Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol

The follow-up protocol, which we describe in this study can serve as a practical proposal for clinicians, and as a basis for future studies. We strongly urge the clinician to start an early surveillance of the gastrointestinal tract including regular endoscopy. The main management goals in PHTS patients are to detect colon cancer early, and to prevent polyp-related complications (bowel obstruction from intussusception). The presence of multiple nonmalignant polyps in patients with PTEN mutations may complicate noninvasive methods of colon evaluation [Tan et al., 2012]. In addition, there is a high variability in severity of polyps progression, and the malignant potential of these lesions is…

Il neonato che “sa di sale”

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two forms of the disease - renal and systemic – have been described, which are genetically distinct and with wide clinical expressivity. The most severe generalized PHA1 is caused by mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC). The paper reports the case of a newborn of the first pregnancy of healthy and consanguineous Sicilian parents, with a clinical and hormonal pic…

Benign and severe early-life seizures: a round in the first year of life

Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…

Current Insights on Early Life Nutrition and Prevention of Allergy

The incidence of allergic diseases in childhood appears to have significantly increased over the last decades. Since environmental factors, including diet, have been thought to play a significant role in the development of these diseases, there is great interest in identifying prevention strategies related to early nutritional interventions. Breastfeeding is critical for the immune development of newborns and infants through immune-modulating properties and it impacts the establishment of a healthy gut microbiota. However, the evidence for a protective role of breastfeeding against the development of food allergy in childhood is controversial, and there is little evidence to support the ben…

Prematurity and twinning

Aim of the study: Newborns from multiple pregnancies are increasing in number and demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role and their prenatal evaluation may improve the overall outcome. Main findings: Prematurity is six times more frequent in twins and therefore birth weight is significantly lower compared to singletons. Thus, twins are more exposed to prematurity related diseases (respiratory, cardiovas- cular, infectious, etc.) and to long-term complications (especially neurological disabilities). Results: It is very difficult to estimate the increa…

Un caso inusuale di anemia emolitica

The Health Risks of Electronic Cigarettes Use in Adolescents

The evidence to date suggests that vaping is not a safe alternative to smoking tobacco. This, coupled with the worrying trend of young nonsmokers being attracted to vaping, raises fears of yet another generation suffering from chronic lung disease and other acute and chronic health conditions. Finally, due to the insufficient regulations in several countries, up-to-date data on the prevalence of e-cigarette use and studies on the health's implications of their use are urgently needed to inform policy at a national and international level (ie, European Union). Pediatricians are typically on the front line for identifying emerging risks for children and adolescents ; therefore, they may effec…

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

A novel NF1 mutation in a pediatric patient with renal artery aneurysm

Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. Case presentation We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. Conclusion Vasculop…

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

Effects of Infant Formula With Human Milk Oligosaccharides on Growth and Morbidity: A Randomized Multicenter Trial

Objectives:The aim of the study was to evaluate the effects of infant formula supplemented with 2 human milk oligosaccharides (HMOs) on infant growth, tolerance, and morbidity. Methods:Healthy infants, 0 to 14 days old, were randomized to an intact-protein, cow's milk-based infant formula (control, n=87) or the same formula with 1.0g/L 2fucosyllactose (2FL) and 0.5g/L lacto-N-neotetraose (LNnT) (test, n=88) from enrollment to 6 months; all infants received standard follow-up formula without HMOs from 6 to 12 months. Primary endpoint was weight gain through 4 months. Secondary endpoints included additional anthropometric measures, gastrointestinal tolerance, behavioral patterns, and morbidit…

Perché non bere e non fumare in gravidanza – Le conseguenze dell’alcool sul feto e sul neonato

Ipertransaminasemia: analisi di una casistica di bambini ricoverati presso la UO "Clinica Pediatrica" Ospedale dei Bambini "G. Di Cristina" di Palermo.

Infezione da EBV e malattia di Stevens-Johnson.

The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: A 5-Years Retrospective Study

Congenital hypothyroidism (CH) occurs in approximately 1:2,000-1:3,000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH from blood spots. The neonates with TSH≥6mU/L were recalled measuring serum fT4, fT3, TSH, anti- TG and anti-TG antibodies, and thyroid echography. To evaluate the effect in lowering the TSH cut-off, we compared the cases of confi…

Celiac Disease: a widespread emerging condition in mediterranean countries.

ISOLATED PYODERMA GANGRENOSUM AND ADALIMUMAB:CASE REPORT IN PAEDIATRIC AGE

Introduction: Pyoderma Gangrenosum (PG) is a sterile neutrophilic disorder, rarely described in children and adolescents, and frequently it is known as secondary to other chronic inflammatory diseases. However, epidemiological, clinical and therapeutic data on paediatric PG are numerically limited and no randomized controlled trials have been published. Associated diseases in paediatric cases are inflammatory bowel diseases, vasculitis, immune deficiencies, PAPA Syndrome. The treatment with systemic steroids and cyclosporine is well documented in the literature as the first-line treatment. In nonresponders, other treatment lines are indicated, as: corticosteroids and mycophenolate mofetil, …

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods. Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms. Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (!K5 SDS), 33 kg (! K3 SDS); SPAN: 122 cm; PH2B2, bone age: 11 years; mild psychomotor delay, facial dysmorphism (malformed years with a low-set, microcephaly) and feet malformations (flexion deformities, broad halluces). Born SGA, with a growth velocity ! K3 SDS, a severe short stature s…

Atresia esofagea: management intensivo neonatale

Best practices, challenges and innovations in pediatrics in 2019

AbstractThis paper runs through key progresses in epidemiology, pathomechanisms and therapy of various diseases in children that were issued in the Italian Journal of Pediatrics at the end of last year. Novel research and documents that explore areas such as allergy, critical care, endocrinology, gastroenterology, infectious diseases, neonatology, neurology, nutrition, and respiratory tract illnesses in children have been reported. These observations will help to control childhood illnesses.

Reply to Drs. Machin and Knisely

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

UNA STRANA RECIDIVA DI “MALATTIA DI KAWASAKI"

Colonizzazione da gram negativi multiresistenti produttori di beta-lattamasi ad ampio spettro (ESBL) in una UTIN.

NEUROFIBROMATOSI E MALATTIE NEOPLASTICHE NELL’INFANZIA

Profilo auxologico, metabolico ed endocrino in pazienti epilettici in età evolutiva in terapia con acido valproico

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

Abstract Background Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period. Methods The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement),…

Oxidative stress markers at birth: Analyses of a neonatal population

In order to further understand neonatal stress and, thus, control it efficaciously, there is a need for more information on the manifestations of stress at the molecular level in the newborn, with particular regard to oxidants, and anti-oxidant and anti-stress mechanisms, including mitochondrial heat shock protein-chaperones such as Hsp60. We investigated patterns of anti-oxidants, biomarkers of oxidative stress, and Hsp60 levels in sera from newborns and found significant associations between glutathione (GSH) levels and gestational age, delivery modality, and lipid hydroperoxydes (LOOH) level. LOOH levels and spontaneous (vaginal) delivery were independently associated with increased GSH …

Sindrome di Turner 45,XO/46,XY: Una diagnosi citogenetica di rischio neoplastico

PROTOCOLLO MULTIDISCIPLINARE DEI GENITALI AMBIGUI

Registro ISMAC Sicilia Occidentale - Attività 2000-2004

LA MALATTIA DI KAWASAKI: LA CASISTICA DELLA CLINICA PEDIATRICA DI PALERMO

OGM e nutrizione umana: dubbi e certezze.

From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project

Background. Neonatal brain injury (NBI) can lead to a significant neurological disability or even death. After decades of intense efforts to improve neonatal intensive care and survival of critically ill newborns, the focus today is an improved long-term neurological outcome through brain-focused care. The goal of neuroprotection in the neonatal intensive care unit (NICU) is the prevention of new or worsening NBI in premature and term newborns. As a result, the neonatal neurocritical care unit (NNCU) has been emerging as a model of care to decrease NBI and improve the long-term neurodevelopment in critically ill neonates. Purpose. Neurocritical care (NCC) Sicilian project includes three aca…

Transient hepatic nodular lesions associated with patent ductus venosus in preterm infants.

We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure. Physiopathologic interactions are discussed regarding altered portal blood supply caused by ductus venosus shunt.

Facial masks in children: the position statement of the Italian pediatric society

AbstractFacial masks may be one of the most cost-effective strategies to prevent the diffusion of COVID 19 infection. Nevertheless, fake news are spreading, alerting parents on dangerous side effects in children, such as hypercapnia, hypoxia, gut dysbiosis and immune system weakness. Aim of the Italian Pediatric Society statement is to face misconception towards the use of face masks and to spread scientific trustable information.

PD13 ‐ Gender differences in rhinitic children

Gender differential effects on rhinitis are infrequently studied. Aim of our study is to assess gender differences in host and environmental characteristics and in rhinitis severity level within the IBIM Pulmonary and Allergy Pediatric Clinic. A series of rhinitic (R) patients (September 2011 - May 2013) were investigated through standardized questionnaire and spirometry. Statistical analyses were performed with SPSS. Preliminary results refer to 122 R patients: 77 males (M) (63.1%) and 45 females (F) (36.9%); age (years): 9.23 ± 3.42M vs 9.38 ± 3.02F; maternal history of rhinitis: 45.5%M vs 32.3%F (p<0.090); exposure to maternal smoking during pregnancy:15.6%M vs 2.2%F (p<0.021); exposure …

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life. Objective and hypotheses: Recent longitudinal studies stressed that the follow-up of children with treated congenital hypothyroidism (CHT) should not be limited to the cognitive domain. This study attempted to evaluate the emotional–behavioural profiles in children with CHT and the parenting st…

Effetti dell'obesità sulla funzionalità respiratoria in età pediatrica e fattori di rischio associati

3 nuovi pazienti con piccolo cromosoma soprannumerario derivato dal cromosoma 5

Ipotiroidismo e sindrome di Down: valutazione su 328 soggetti in età evolutiva

ONLINE MENDELIAN INHERITANCE IN MAN (OMIM)

A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations

A newnborn admitted to NICU showed a severe clinical profile

Pseudoacondroplasia: descrizione di un caso con piena espressività clinica

Ermafroditismo vero da traslocazione X;Y in un lattante

Un caso inusuale di malattia emolitica.

Malformazioni congenite nei neonati da genitori stranieri

Malattia di Kawasaki tipica resistente a immunoglobuline e steroidi: uso di Infliximab.

UNA STRANA FORMA DI PSEUDOCCLUSIONE INTESTINALE

Trisomia terziaria da segregazione 3:1, descrizione di due casi clinici

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…

Familial Mediterranean Fever: an unusual cause of liver disease

Abstract Background Familial Mediterranean Fever is an autoinflammatory disease typically expressed with recurrent attacks of fever, serositis, aphthous stomatitis, rash. Only a few reports describe the association with hepatic involvement. Case presentation We describe the clinical case of a child affected, since the age of 1 year, by recurrent fever, aphthous stomatitis, rash, arthralgia, associated with abdominal pain, vomiting, lymphadenopathy. The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented. A partial control of attacks was obtained with colchicine. The child continued to manifest only …

Additional file 1 of Identification of bronchiolitis profiles in Italian children through the application of latent class analysis

Additional file 1: Figure S1. Response probabilities among the three latent classes excluding children aged ≥12 months.

Intestinal tuberculosis in a child living in a country with a low incidence of tuberculosis : a case report

Background: Relatively common in adults, intestinal tuberculosis is considered rare in children and adolescents. The protean manifestations of intestinal tuberculosis mean that the diagnosis is often delayed (sometimes even for years), thus leading to increased mortality and unnecessary surgery. The main diagnostic dilemma is to differentiate intestinal tuberculosis and Crohn’s disease because a misdiagnosis can have dramatic consequences. Case presentation: A 13-year-old Caucasian, Italian female adolescent attended the Emergency Department complaining of abdominal pain, a fever of up to 38°C, night sweats, diarrhea with blood in stool, and a weight loss of about three kilograms over the p…

TROMBOSI VENOSA PROFONDA DA ESTROPROGESTINICI IN TETRASOMIA X

Sindrome di Turner in mosaico in madre e figlia con anomalie del cariotipo apparentemente non correlate.

Il counselling genetico.

Patologia cromosomica rara: duplicazione 22qter

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…

Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases

Abstract Background In 2019, a multidisciplinary panel of experts from eight Italian scientific paediatric societies developed a consensus document for the use of inhaled corticosteroids in the management and prevention of the most common paediatric airways disorders. The aim is to provide healthcare providers with a multidisciplinary document including indications useful in the clinical practice. The consensus document was intended to be addressed to paediatricians who work in the Paediatric Divisions, the Primary Care Services and the Emergency Departments, as well as to Residents or PhD students, paediatric nurses and specialists or consultants in paediatric pulmonology, allergy, infecti…

Additional file 1 of Epidemiology of enuresis: a large number of children at risk of low regard

Additional file 1.

Additional file 1 of Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Additional file 1.

Additional file 1 of Safety and efficacy of a probiotic-containing infant formula supplemented with 2���-fucosyllactose: a double-blind randomized controlled trial

Additional file 1.

LA SEDAZIONE PROCEDURALE IN ONCOEMATOLOGIA PEDIATRICA

I gemelli. Un profilo di Medicina Perinatale e Pediatrica

School in Italy: a safe place for children and adolescents

AbstractBackgroundDuring the first SARS-CoV-2 pandemic phase, the sudden closure of schools was one of the main measures to minimize the spread of the virus. In the second phase, several safety procedures were implemented to avoid school closure.To evaluate if the school is a safe place, students and staff of two school complexes of Rome were monitored to evaluate the efficacy of prevention measures inside the school buildings.MethodsOral secretions specimens were collected from 1262 subjects for a total of 3431 samples, collected over a 3 months period.Detection of Coronavirus SARS-CoV-2 was performed by real-time PCR. Target genes were represented by E gene, RdRP/S gene and N gene.Results…

Congenital muscular dystrophy: from muscle to brain.

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…

LA PRESA IN CARICO INTEGRATA DELL’ ADOLESCENTE CON PATOLOGIA CRONICA: PROGETTO PILOTA PER UN AMBULATORIO DI ADOLESCENTOLOGIA

Squilibrio elettrolitico e iperpigmentazione di cute e mucose: un'associazione temibile

Bovine lactoferrin prevents invasive fungal infections in very low birth weight infants: a randomized controlled trial.

Background: Lactoferrin is a mammalian milk glycoprotein involved in innate immunity. Recent data show that bovine lactoferrin (bLF) prevents late-onset sepsis in preterm very low birth weight (VLBW) neonates. Methods: This is a secondary analysis of data from a multicenter randomized controlled trial where preterm VLBW neonates randomly received bLF (100 mg/day; group A1), bLF + Lactobacillus rhamnosus GG (106 colony-forming units per day; group A2), or placebo (group B) for 6 weeks. Here we analyze the incidence rates of fungal colonization, invasive fungal infection (IFI), and rate of progression from colonization to infection in all groups. Results: This study included 472 neonates who…

EDEME GENERALIZZATO, IPOTONIA E IPERECCITABILITA' ALLA NASCITA IN NEONATO A TERMINE CON GALATTOSIALIDOSI:APPROCCIO CLINICO E DIAGNOSTICO

RABDOMIOLISI IN CORSO DI INFEZIONE DA VIRUS PARAINFLUENZALE TRATTATA CON PARACETAMOLO

Precocious puberty in Costello syndrome: case report.

Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with: macrocephaly, coarse face with hypertelorism, epicanthal folds, prominent eyes, short nose, low-set ears, large mouth, short stature and failure to thrive, curly hairs, macro glossy, short neck, hyperkeratosis, hyperpigmentation, papillomata around the anus, mouth and nares, thick and loose skin of the hands and feet, cardiomyopathy, mental retardation, increased neoplastic risk. The majority of patients (80-90%) with CS have de novo heterozygous mutations in the HRAS gene (11p15.5). Sporadic cases with GH deficiency are described, even if GH treatment is non clearly associated to a signifi…

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

Successful control of an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae sequence type 258 in a neonatal intensive care unit, Italy

This article reports an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) sequence type (ST) 258 in a neonatal intensive care unit (NICU) in Palermo, Italy. KPC-Kp ST258 was detected by an active surveillance culture programme. Between 18th September and 14th November 2012, KPC-Kp was isolated from 10 out of 54 neonates admitted in the outbreak period. No cases of infection were recorded. Male sex was associated with colonization, whereas administration of ampicilline-sulbactam plus gentamicin was protective. Infection control interventions interrupted the spread of KPC-Kp without the need to close the NICU to new admissions. (C) 2013 The Healt…

A retrospective follow up study on maternal age and infant mortality in two Sicilian districts

Abstract Background Infant mortality rate (IMR) is a key public health indicator. Maternal age is a well-known determinant of pregnancy and delivery complications and of infant morbidity and mortality. In Italy the Infant Mortality Rate was 3.7/1000 during 2005, lower than the average IMR for the European Union (4.94/1000). Sicily is the Italian region with the highest IMR, 5/1000, and neonatal mortality rate (NMR), 3.8/1000, with substantial variation among its nine districts. The present study compared a high IMR/NMR district (Messina) with a low IMR/NMR district (Palermo) during the period 2004-2006 to evaluate potential determinants of the IMRs' differences between the two districts and…

Caratteristiche epidemiologiche dell’Infezione da virus respiratorio sinciziale in Sicilia: dati preliminari su una casistica di infettivologia pediatrica

New insights in pediatrics in 2021: choices in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, neurology, nutrition, palliative care, respiratory tract illnesses and telemedicine

AbstractIn this review, we report the developments across pediatric subspecialties that have been published in the Italian Journal of Pediatrics in 2021. We highlight advances in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, hematology, infectious diseases, neonatology, neurology, nutrition, palliative care, respiratory tract illnesses and telemedicine.

Tubulointerstitial nephritis and uveitis syndrome post-COVID-19

The Economic Burden of Child Maltreatment in High Income Countries.

Maltreatment is a common cause of children’s functional and emotional impairment. Costs for the society are high, as a substantial amount of resources have been allocated for various types of services connected to maltreatment of children. These include acute treatment, long-termcare, family rehabilitation programs, and judiciary activities.There is a long-lasting debate on how child abuse could be prevented or reduced. How can the costs of related services be contained? What is the role of pediatricians in such efforts? This article raises these important questions within the framework of the debate opened by the article by Gerber-Grote et al regarding the role of health economics in impro…

Molecular analysis of the APP gene overexpression and his relationship with early onset of Alzheimer Dementia in young adults with Down Syndrome

Genetica e infezioni neonatali

Post-chemotherapy physical fitness level on children with diagnosis of leukemia: results of a pilot study

Introduction: Children with diagnosis of leukemia are at risk for developing neuromuscular and musculoskeletal complications such as decreased muscle strength, impaired gross and fine motor performance, decreased energy expenditure, osteonecrosis, and osteoporosis. These secondary complications due to the medical interventions may lead to activity limitations and participation restrictions in daily life experiences. However, few Authors suggest that if children participate in an individualized physical therapy exercise program, these limitations may be prevented or at least reduced. We evaluated the level of physical fitness on children with diagnosis of leukemia (C-LK) during the post-chem…

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Funder: Università degli Studi di Catania

Early intestinal perforation secondary to congenital mesenteric defects

Abstract Gastrointestinal perforation (GIP) in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC), or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome), twinning, and use of assisted reproductive technologies. These cases prompted us to rev…

Screening ecografico cerebrale nel neonato sano:descrizione di 3 casi di cisti aracnoidea

Caratteristiche del neonato sano e adattamento alla vita extrauterina. Il pediatra-neonatologo in sala parto

Monozygotic monoamniotic twins discordant for uretrhal and anal atresia with vesicorectal fistula: a favourable

Monosomia parziale 4p e trisomia parziale 22q: quadro elettroclinico

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.

What Is the Impact of Innovative Electronic Health Interventions in Improving Treatment Adherence in Asthma? The Pediatric Perspective

Suboptimal adherence to treatment is a significant issue in the management of pediatric asthma and is a major cause of uncontrolled disease, life-threatening attacks, and increased utilization of healthcare resources. Electronic health (e-Health) solutions have the potential to positively impact asthma self-management in children and adolescents and their families, thereby improving treatment adherence and asthma outcomes. However, there is a lack of sufficient data to support widespread adoption of e-Health tools in pediatric asthma practice. A critical evaluation of the impact of these new interventions on treatment adherence in childhood asthma must consider unmet needs, heterogeneity of…

I nanismi come problema

Disabilità Intellettiva, riarrangiamenti genomici, ittioli

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

Dieci anni di pediatria: che cosa è cambiato nella genetica

PSEUDOIPOALDOSTERONISMO DI TIPO III IN NEONATO CON GRAVE REFLUSSO VESCICO‐URETERALE BILATERALE

Spread of a new MBL-producing strain of Pseudomonas aeruginosa in NICU during microbiological surbeillance in 2003

Indagine Clinico Epidemiologica su 132 Nati da Gravidanze Multiple

AbstractL'epidemiologia delle gravidanze multiple si è notevolemente modificata nel corso degli ultimi due decenni in virtù del perfezionamento e della diffusione delle tecniche di riproduzione assistita. L'utilizzazione di induttori farmacologici della ovulazione (specie le gonadotropine ed il citrato di clomifene) e l'impianto in utero di più embrioni fecondati in vitro, sono fattori che maggiormente hanno contribuito a fare impennare verso l'alto il numero di nati da gravidanze plurigemine. L'incidenza di parti trigemini, ad esempio, considerata gli inizi degli anni '70 di circa 1:10,000 parti, oggi si è elevata sino ad 1:3,500 circa.Presentiamo i dati relativi a 132 soggetti nati da gra…

Educational Interventions on Pregnancy Vaccinations during Childbirth Classes Improves Vaccine Coverages among Pregnant Women in Palermo’s Province

Maternal immunization is considered the best intervention in order to prevent influenza infection of pregnant women and influenza and pertussis infection of newborns. Despite the existing recommendations, vaccination coverage rates in Italy remain very low. Starting from August 2018, maternal immunization against influenza and diphtheria-tetanus-pertussis were strongly recommended by the Italian Ministry of Health. We conducted a cross sectional study to estimate the effectiveness of an educational intervention, conducted during childbirth classes in three general hospitals in the Palermo metropolitan area, Italy, on vaccination adherence during pregnancy. To this end, a questionnaire on kn…

Kawasaki disease epidemic: pitfalls

AbstractRecent reports have described in the pediatric population a new type of hyperinflammatory response manifested following contact with SARS-CoV-2, with some of the clinical features attributable to Kawasaki disease (KD). The purpose of this commentary is to remark on a possible recent association between SARS-CoV-2 and KD. Although today little is known about the etiology of KD, the most accepted hypothesis is that of a probable viral etiology, therefore, even the SARS-CoV-2 virus could trigger, in genetically predisposed subjects, an exaggerated inflammatory response that is clinically evident like the one described in KD.

Aracnodattilia contrattuale congenita (ACC) presentazione clinica in epoca neonatale.

IL volume piastrinico medio nei pazienti con febbre mediterranea familiare in età pediatrica

Efficacia di Omalizumab in una bambina con sindrome autoinfiammatoria e orticaria cronica

Sindrome di Feingold da delezione 2p24

Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis

Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk. Conclusion It could be appropriate to incl…

Transposition of the great arteries and aortopulmonary window in the same patient: clinical report and follow-up.

Trasnposition of great arteries (TGA) Has been reported in combination with several congenital defects. Only one case of TGA has been described in association with aortopulmonary window (APW).

PARVOVIRUS INFECTION AND KAWASAKI DISEASE: ONE DISEASE FOR TWO SIBLINGS

Introduction: Kawasaki disease (KD) is rarely described in siblings in the same time. In these cases, an infectious trigger must be excluded. Objectives: We describe the clinical course of two brothers who showed severe KD all at once, secondary to Parvovirus infection. Methods: A 9-month-old female showed fever, pallor, vomiting, bilateral non-secreting conjunctivitis, rash. Anamnesis revealed that 12 days before, she had fever, spontaneously resolved. At admission, 9 days after fever onset, she showed fever, conjunctivitis, pharyngitis, rash, and cervical adenopathy. Haematological parameters showed: leukocytosis, neutrophilia; anaemia; CRP: 2.31; ESR: 120. ECG and echocardiography were n…

AUDITORY EVOKED POTENTIALS AND VISUAL EVOKED POTENTIALS: A HELPFUL TEST IN THE DIAGNOSIS AND FOLLOW UP OF KAWASAKI DISEASE

Introduction: Kawasaki disease is a systemic vasculitis affecting mainly children; the most serious complications are coronary artery lesions (CAL). Nonetheless, the spectrum of complications involves all the vascular districts, such as the eyes, skin, kidneys, gallbladder, liver, central nervous system. Sensorineural hearing loss is a low diagnosed complication of KD, however, it may be permanent. Objectives: Auditory evoked potentials (ABR) and visual evoked potentials (VEPs) are useful in evaluating children without auditory and/or visual symptoms but with diseases that could sub clinically involve these functions. Methods: We enrolled 52 children (31 M, 21 F; age: 3 months-10 years) wit…

TIROIDITE AUTOIMMUNE IN S. DI LOWE: SEGNALAZIONE DI UNA NUOVA ASSOCIAZIONE

Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases.

AbstractFIRES is defined as a disorder that requires a prior febrile infection starting between 2 weeks and 24 h before the onset of the refractory status epilepticus with or without fever at the onset of status epilepticus. The patients, previously normal, present in the acute phase recurrent seizures and status epilepticus followed by a severe course with usually persistent seizures and residual cognitive impairment. Boundary with “new onset refractory status epilepticus (NORSE) has not clearly established. Pathogenetic hypothesis includes inflammatory or autoimmune mechanism with a possible genetic predisposition for an immune response dysfunction.Various types of treatment have been pro…

Acute renal insufficiency and pancreatitis in a child with atypical Henoch–Schönlein purpura: efficacy of a single dose of cyclophosphamide

A 9-year-old boy with petechiae on the legs and abdominal pain was unsuccessfully treated with steroids. He was admitted to our hospital for the onset of fever, ecchymosis, and arthralgia. Skin lesions suggested vasculitis, but they were not typical of Henoch–Schönlein purpura. He showed ecchymosis of the scrotal bursa, diffusion of petechiae to the trunk and arms, vomiting, severe abdominal pain, oliguria with hyponatremia, hypoalbuminemia, low C3 levels, high levels of creatinine, blood urea nitrogen, and tubular enzymes, proteinuria, and glycosuria. The urinary sediment showed macrohaematuria, and hyaline and cellular casts. Ultrasound showed polyserositis. He was treated with intraveno…

INSULINORESISTENZA IN PAZIENTI CON INSUFFICIENZA RENALE CRONICA IN ETA’ PEDIATRICA

Nutrizione a tutto tondo

Array CGH defined interstitial deletion on chromosome 14: a new case

Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents

Abstract Background The lives of many children and adolescents are today increasingly influenced by new technological devices, including smartphones. The coronavirus disease 2019 (COVID-19) pandemic occurred in a time of outstanding scientific progress and global digitalization. Young people had relevant adverse psychological and behavioral effects due to the COVID-19 pandemic, mainly related to infection control measures, which led them to spend more time at home and with major use of technological tools. The goal this study proposes is to evaluate health and social outcomes of smartphone overuse among Italian children and adolescents during the COVID-19 pandemic, analyzing patterns and ai…

Coronary Artery Fistula in Down Syndrome: A Hidden Association

Sclerodermia sistemica: descrizione di un caso in età pediatrica.

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This …

Additional file 2 of Safety and efficacy of a probiotic-containing infant formula supplemented with 2���-fucosyllactose: a double-blind randomized controlled trial

Additional file 2.

INFEZIONI DELLE VIE URINARIE

In puero homo: la vita prenatale, il parto e il neonato

Perché non bere e non fumare in gravidanza – Le conseguenze del fumo sul feto e sul neonato

Rabdomiolisi in corso di infezione da virus parainfluenzale: descrizione di un caso in età pediatrica.

Impact of Distressing Media Imagery on Children

Children are particularly fragile and vulnerable to the impact of traumatic events or their mediated representation because they lack the skills and experience in the management of difficult information. Children have different concepts of health and disaster than adults and institutions, depending mainly on their cognitive, emotional, social, psychological, and physical development. If left alone with threatening messages, children are less able to fully understand the information to which they had been exposed. Therefore, they may fail to integrate the external data into their psychological schema of coping strategies. Children usually count on caregivers to deal with stressors, and they …

Pyridoxine dependent epilepsies: new therapeutical point of view

Abstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) a…

Outbreak of colonizations by extended-spectrum β-lactamase-producing Escherichia coli sequence type 131 in a neonatal intensive care unit, Italy

Abstract Background Extended spectrum β-lactamases (ESBLs) often associated with resistance to aminoglycosides and fluoroquinolones have recently emerged in community-associated Escherichia coli. The worldwide clonal dissemination of E. coli sequence type (ST)131 is playing a prominent role. We describe an outbreak of colonizations by ESBL-producing E. coli (ESBL-E. coli) in the neonatal intensive care unit (NICU) of the University Hospital, Palermo, Italy. Methods An epidemiological investigation was conducted with the support of molecular typing. All children admitted to the NICU and colonized by ESBL-E. coli between January and June 2012, were included in the study. Cases were defined as…

L’obesità nella Sindrome di Down: analisi di 320 soggetti in età evolutiva

The Use of Social Media in Children and Adolescents: Scoping Review on the Potential Risks.

In recent years, social media has become part of our lives, even among children. From the beginning of COVID-19 pandemic period, media device and Internet access rapidly increased. Adolescents connected Internet alone, consulting social media, mostly Instagram, TikTok, and YouTube. During &ldquo;lockdown&rdquo;, the Internet usage allowed communication with peers and the continuity activities such as school teaching. However, we have to keep in mind that media usage may be related to some adverse consequences especially in the most vulnerable people, such as the young. Aim of the review is to focus on risks correlated to social media use by children and adolescents, identifying spies of ris…

Genotyping and Antifungal Susceptibility of Dipodascus capitatus Isolated in a Neonatal Intensive Care Unit of a Sicilian Hospital

In August 2015, Dipodascus capitatus was isolated from two patients admitted to the neonatal intensive care unit. Nosocomial acquisition of the fungus was suspected and epidemiological studies were undertaken. The patients were simultaneously hospitalized, and the comparison of the two isolates by two independent molecular typing methods have confirmed clonal dissemination of a single strain of D. capitatus. Antimicrobial susceptibility testing was useful for identifying the appropriated antifungal therapy in micafungin. To our knowledge these are the first described cases of neonatal D. capitatus infection and also the first report of successful treatment by micafungin.

TIROIDITE DI HASHIMOTO IN BAMBINI CON FENILCHETONURIA: ASSOCIAZIONE CASUALE O CAUSALE?

Un vettore NON-virale contenente un elemento S-MAR (Scafold/Matrix Attachment)consente un'espressione persistente nel tessuto epatico nel modello murino.

Un vettore ideale dovrebbe consentire l'espressione di un transgene senza alcuna limitazione di sicurezza e di riproducibilità. Qui riportiamo lo sviluppo di un nuovo vettore NON-virale basato su DNA episomale plasmidico (pDNA) che sembra soddisfare al pieno le caratteristiche del vettore ideale nel tessuto epatico. Questo pDNA deriva dalla combinazione tra un promotore epatospecifico (AAT promoter) posto a monte del transgene e un elemento S-MAR (Scafold/Matrix Attachment) posto a valle, mentre il reporter è gene della luciferasi. L'applicazione nel tessuto epatico è stata effettuata mediante iniezione ad alta pressione per via vena caudale del modello murino (hydrodynamic delivery). L'esp…

Studio neurofisiologico dei potenziali evocati uditivi e visivi in bambini affetti da malattia di Kawasaki: contributo personale.

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…

CISTI CONGENITA DELLA TESTA DEL PANCREAS: DALLA DIAGNOSI PRENATALE ALL’INTERVENTO PRECOCE

Aspetti di etica e management nelle UTIN ed intorno alla rianimazione neonatale

ENDOCRINE PROFILE, BMD EVALUATION, ESTROPROGESTINIC TREATMENT IN THE FOLLOW UP OF GIRLS WITH CONGENITAL COAGULOPATHIES

Esperienze regionali in neonatologia. Ultime novità in devolution: la Sicilia

Position Statement on Breastfeeding from the Italian Pediatric Societies

The 2015 Position Statement on Breastfeeding of The Italian Pediatric Societies (SIP, SIN, SICupp, SIGENP) recognizes breastfeeding as an healthy behaviour with many short and long term benefits for both mother and infant. While protecting, promoting and supporting breastfeeding, neonatologists and pediatricians need specific knowledge, skills and a positive attitude toward breastfeeding. In Maternity Hospitals and in Neonatal Units, appropriate organizative interventions should be applied in order to facilitate the beginning of breastfeeding and the use of mother’s/human milk. The Italian Pediatric Societies indicate the desiderable goal of around 6 months exclusive breastfeeding if the in…

DIAGNOSI DIFFERENZIALE DELLE POLMONITI VIRALI NEL NEONATO

PATTERN ENDOCRINO DELLA SINDROME DI WILLIAMS IN ETA’ EVOLUTIVA: CASISTICA PERSONALE

Irsutismo in sindrome microcefalica e sinostosi radio-ulnare: prima segnalazione di una associazione

A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol.

Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacol…

Bronchiolitis: The New American Academy of Pediatrics Guidelines

Respiratory Syncytial Virus (RSV) is the leading cause of hospitalization for lower respiratory tract infections (LRTI) in young children worldwide. RSV is an important cause of LRTI in infants and a variety of factors, such as gender, age at admission, gestational age, birth weight, and exposure to tobacco smoke and breast feeding may affect the prevalence of RSV-related disease and, possibly, the risk of developing asthma-like symptoms during the school years. AAP in 2006 formulated the new guidelines on diagnosis and management of bronchiolitis, giving recommendations on different conditions requesting clinical decisions also in terms of prevention.

Role of oxidative stress in neonatal respiratory distress syndrome

Respiratory distress syndrome is the commonest respiratory disorder in preterm infants. Although it is well known that preterm birth has a key role, the mechanisms of lung injury have not been fully elucidated. The pathogenesis of this neonatal condition is based on the rapid formation of the oxygen reactive species, which surpasses the detoxification capacity of anti-oxidative defense system. The high reactivity of free radical leads to damage to a variety of molecules and may induce respiratory cell death. There is evidence that the oxidative stress involved in the physiopathology of this disease, is particularly related to oxygen supplementation, mechanical ventilation, inflammation/infe…

Third-hand smoke exposure and health hazards in children

Smoking still represents a huge public health problem. Millions of children suffer the detrimental effects of passive smoking. An increasing number of countries have recently issued laws to regulate smoking in public places. Instead, homes remain a site where children are dangerously exposed to environmental tobacco smoke (ETS). The combination of tobacco smoke pollutants which remain in an indoor environment, the so-called ‘third-hand smoke’ (THS), represent a new concept in the field of tobacco control. THS consists of pollutants that remain on surfaces and in dust after tobacco has been smoked, are re-emitted into the gas-phase, or react with other compounds in the environment to form se…

L'umanizzazione dell'assistenza in Terapia Intensiva Neonatale

Childhood Dietary Intake in Italy: The Epidemiological "MY FOOD DIARY" Survey

Promoting a healthy lifestyle during the first years of life is a key strategy for controlling obesity risk in later life

Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication

The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and languag…

Sindrome da microduplicazione 17p13.3: caratterizzazione di una nuova regione critica per la variante clinica con palatoschisi

Sindrome da microduplicazione 17p13.3, palatoschisi

Trisomia 8 in mosaico: descrizione di un caso in epoca neonatale con piena espressività clinica.

Adiponectin, resistin and leptin in paediatric chronic renal failure: Correlation with auxological and endocrine profiles

Introduction: Chronic renal failure (CRF) compromises nutrition, growth, puberty, glycometabolic homeostasis, and adipokine secretion (i.e. adiponectin, resistin, and leptin). Adipokines play a role in the clinical outcome, but data in paediatric patients is scant. Aim: To evaluate the link between kidney function, adiponectin, resistin, leptin, hormonal status, nutritional state and late outcome of CRF children. Materials and methods: We studied leptin, adiponectin and resistin levels in 31 CRF patients (19 males, 12 females, aged 12.1 ± 4.47 years) managed conservatively, and 30 healthy age- and gender-matched controls. Clinical, auxological, biochemical, hormonal data, glucose and insuli…

Monitoring neonatal fungal infection with metabolomics

Abstract The objective of our study was to evaluate the capability of the metabolomics approach to identify the variations of urine metabolites over time related to the neonatal fungal septic condition. The study population included a clinical case of a preterm neonate with invasive fungal infection and 13 healthy preterm controls. This study showed a unique urine metabolic profile of the patient affected by fungal sepsis compared to urine of controls and it was also possible to evaluate the efficacy of therapy in improving patient health.

PROFILO ENDOCRINO, LIVELLI DI ADIPONECTINA, RESISTINA, LEPTINA IN PAZIENTI CON INSUFFICIENZA RENALE CRONICA IN ETA’ EVOLUTIVA

West syndrome: a comprehensive review

AbstractSince its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside…

Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Mielodisplasia transitoria in un neonato con sindrome di Down

NEUROFIBROMATOSI DI TIPO 1 ED IPOTIROIDISMO SUB-CLINICO DA TIROIDITE AUTOIMMUNE: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA

Safety of Rotavirus Vaccination in Preterm Infants Admitted in Neonatal Intensive Care Units in Sicily, Italy: A Multicenter Observational Study

Rotavirus (RV) is among the most common vaccine-preventable diseases in children under five years of age. Despite the severity of rotavirus pathology in early childhood, rotavirus vaccination for children admitted to the neonatal intensive care unit (NICU), who are often born preterm and with various previous illnesses, is not performed. This multicenter, 3-year project aims to evaluate the safety of RV vaccine administration within the six main neonatal intensive care units of the Sicilian Region to preterm infants. Methods: Monovalent live attenuated anti-RV vaccination (RV1) was administered from April 2018 to December 2019 to preterm infants with gestational age &ge; 28 weeks. Vaccine a…

VALUTAZIONE AUXOLOGICA ED ENDOCRINA NELLA S. DI AARSKORG: CASISTICA PEDIATRICA

MALATTIA DI KAWASAKI: MODALITA’ DI ESORDIO E DECORSO CLINICO

Gemellarità e prematurità

Hypogonadotropic hypogonadism in Kabuki syndrome: the story of two adolescents

Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features

Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…

7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review

Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …

Predictive Factors of Abdominal Compartment Syndrome in Neonatal Age

In the pediatric population, abdominal compartment syndrome (ACS) is a known complication of abdominal wall defect repair. However, there are only few reports on ACS in newborns and only a proposal of critical intra-abdominal pressure value (IAP) in term newborns, absent in preterm newborns. Although the prevalent clinical sign is tense abdominal distension, it may be difficult to distinguish ACS from pathologies that will not require decompression. The purpose of this study was to identify predictors for ACS and therefore morbidity or mortality indicators. We reviewed newborns presenting with tense abdominal distension and end organ failure. Anamnestic, clinical, laboratory, and instrument…

UTILITÀ DELLO SCREENING ECO-DOPPLER TIROIDEO NEL DIABETE MELLITO TIPO 1

Awareness of radiation protection issue in paediatric trainees. A questionnaire study.

Il pediatra ed i nati da fecondazione artificiale

Triplice mutazione del gene della febbre mediterranea familiare in paziente con malattia di Kawasaki ed infezione da EBV

Ruolo della lungodegenza come rischio di sepsi neonatali late onset: esperienza di un biennio in UTIN

Ernia diaframmatica congenita. Analisi dei fattori prognostici in 27 pazienti (2000-2006)

Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy

Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK bo…

Terapia con inibitori dell'IL-1 in pazienti con mutazioni di malattie autoinfiammatorie a bassa penetranza: una casistica dall'età pediatrica al giovane adulta tra Sicilia e Toscana

CASO CLINICO: triplicazione del gene SHOX in un paziente con disgenesia gonadica mista e mosaicismo 46,X,i(Y)(p10)[94]/45,X[13]

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA Descriviamo il caso di un bambino di 2.5 anni con bassa statura, altezza 84cm (-2DS), SPAN 82.5cm, peso 10 kg (-2.5DS). Nato SGA (EG:40.5), con p.c.: 2480 g (-2.44DS), lunghezza: 47cm (-1.64DS), c.c.: 33 cm (-1.84DS).Stadio PH1G1, volume testicolare: 2 ml con genitali esterni normo-conformati. Era stato sottoposto ad amniocentesi, con diagnosi prenatale di disgenesia gonadica mista associata a cariotipo a mosaico 45,X[25]/46,X,i(Y)[18]. IPOTESI DIAGNOSTICHE • deficit accrescitivo in nato SGA • bassa statura da SHOX-D • ritardo della crescita costituzionale o secondario a malassorbimento INDAGINI DI I E II LIVELLO Per la ridotta velocit…

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study

Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …

New diagnostic possibilities in systemic neonatal infections: metabolomics

Systemic neonatal infection is a serious complication in preterm and term infants and is defined as a complex clinical syndrome caused by bacteria, fungi and virus. Sepsis remains among the leading causes of death in both developed and underdeveloped countries above all in the neonatal period. Earlier diagnosis may offer the ability to initiate treatment to prevent adverse outcomes. There have been many studies on various diagnostic haematological markers like acute phase reactants, C-reactive protein, procalcitonin, interleukins and presepsin. However, there is still no single test that satisfies the criteria as being the ideal marker for the early diagnosis of neonatal sepsis. In this reg…

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

Key Clinical Message Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith–Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.

The Role of Pediatricians in Caring for the Well-Being of Children Living in New Types of Families.

Pediatricians are on the front line of child care and advocacy, and it is their role to promote children's well-being and to help parents raise healthy children, independent of the configuration of their families. This report aims to draw attention to the evolving social scenarios and to emphasize that pediatricians must be trained to coordinate new challenges that may arise from differently configured families, particularly single-parent and same-sex–parent families.

CASO CLINICO: L’UTILIZZO DELL’ORMONE DELLA CRESCITA IN SOGGETTO CON SINDROME DA MICRODELEZIONE E SBILANCIAMENTO CROMOSOMICO (CR3-6)

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA. Descriviamo il caso di una bambina di 8 anni giunta alla nostra osservazione per scarso accrescimento all’età di 4 anni (statura&lt;3DS). Nata pretermine (EG:35+3) con parto spontaneo, SGA. Distress respiratorio alla nascita per cui è stata ricoverata in UTIN per la prima settimana di vita. Parametri auxologici alla nascita: PN: 1600gr (-1,94DS), lunghezza 39cm (-2,72DS), cc 28cm (-2,65DS). Presentava inoltre note dismorfiche al volto, schisi del palato molle, piede talo valgo bilaterale e ritardo neuromotorio. Dato il quadro sindromico si eseguivano dopo poche settimane dalla nascita indagini genetiche; all’array CGH si evidenziava d…

Artrogriposi multipla congenita da lesione del II motoneurone, descrizione di un caso e considerazioni clinico-diagnostiche.

Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children

The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.

Biochemical selection of prepubertal patients with androgen insensitivity syndrome by sex hormone-binding globulin response to the human chorionic gonadotropin test.

Before puberty, the diagnosis of androgen insensitivity syndrome (AIS) can be difficult. We studied whether the decrease of sex hormone-binding globulin (SHBG) during the human chorionic gonadotropin (hCG) test may represent a biochemical test to select prepubertal patients with AIS. We examined prepubertal patients with AIS (n = 9, age 0.9-8.2 y), male pseudohermaphroditism not due to AIS (other-MPH) (n = 8, age 0.6-10.7 y), and control boys (n = 12, age 0.8-12.5 y). Testosterone and SHBG levels (mean +/- SD) were measured before (d 0) and after (d 5) a hCG test (1500 IU X 3 d). Testosterone levels (nmol/L) increased in all groups [AIS: from 1.5 +/- 1.2 to 22.1 +/- 11.8 (p0.001); other-MPH…

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…

LE ALTERAZIONI DEI POTENZIALI EVOCATI NELLA MALATTIA DI KAWASAKI: SUPPORTO DIAGNOSTICO IN UN ITER DIFFICILE

Un figlio su misura

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes

Down’s syndrome (DS) is one of the most common numer- ical chromosomal aberrations, usually caused by trisomy of chromosome 21, and is frequently complicated with congen- ital heart defects, duodenal obs truction and other conditions including undescended testis (UDT) (Fonkalsrud 1970). The incidence of undescended testes in DS was reported to be 6.52% (Chew and Hutson 2004) while the incidence of UDT in the first year is approximately 0.2%–0.8% in the nor- mal population (Benson et al . 1991; Ichiyanagi et al . 1998). Rapley et al . (2000) provided evidence for a testicular germ- cell tumours (TGCT) predisposition locus at Xq27; the au- thors obtained an hlod score of 4.7 from families wit…

Sotos syndrome and lymphoproliferative disorders: Reply to T. Cole and J. Allanson

Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy

Recent studies have shown that neurologic inflammation may both precipitate and sustain seizures, suggesting that inflammation may be involved not only in epileptogenesis but also in determining the drug-resistant profile. Extensive literature data during these last years have identified a number of inflammatory markers involved in these processes of “neuroimmunoinflammation” in epilepsy, with key roles for pro-inflammatory cytokines such as: IL-6, IL-17 and IL-17 Receptor (IL-17R) axis, Tumor-Necrosis-Factor Alpha (TNF-α) and Transforming-Growth-Factor Beta (TGF-β), all responsible for the induction of processes of blood-brain barrier (BBB) disruption and inflammation of the Central Nervou…

Pediatric routine vaccinations in the COVID 19 lockdown period: the survey of the Italian Pediatric Society

Abstract Background COVID-19 pandemic was responsible for disrupting routine immunization activities all over the world. Aim of the study was to investigate the reduced adherence to the national children vaccination schedule during the lockdown period in Italy. Materials and methods Through social channels, the Italian Pediatric Society conducted a survey among Italian families on children vaccination during lockdown period. Results In the study period, 1474 responders were collected. More than one third (34%) of them skipped the vaccine appointment as they were afraid of SARS-CoV-2-virus (44%), vaccination services postponed the appointment (42%) or was closed to public (13%). Discussion R…

MICROLITIASI TESTICOLARE BILATERALE IN SINDROME ADRENOGENITALE LATE ONSET

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q

We report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the d…

Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging

Spondylo-costal dysostosis in two siblings

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

Neonatal sepsis caused by Ralstonia pickettii

e describe the clinical case of apremature newborn, born at 26weeks by cesarean delivery, followed inthe neonatal intensive care unit. Themother was diabetic with adequate con-trol during pregnancy.Neonatal weight was 930 g;APGAR score 3 at 1 minute and 8 at 5minutes. She received forced ventilationby endotracheal tube and parenteralnutrition by a central venous catheter.She was treated with ampicillin for thefirst 20 days of life. At 25 days, apneaand bradychardia episodes occurredwith a progressive increment in sever-ity and frequency. Leukocytes, C-re-active protein, cerebral echography,and echocardiogram were normal.Oralfeeding was transiently stopped and rani-tidine treatment was starte…

New insights in respiratory impedance in young children after repair of congenital diaphragmatic hernia: a cross-sectional study

Abstract Lung function impairment is common in Congenital Diaphragmatic Hernia (CDH) survivors. The aim of this study was to evaluate, in children who underwent CDH surgical repair, mid and long-term consequences on respiratory impedance, investigating the impact of CDH on both resistance and reactance parameters, as well as bronchodilator response. Forced Oscillation Technique (FOT) parameters were collected from 12 patients (2–11 years). Resistance and reactance values at 8 Hz (Rrs8, Xrs8) and the area under the reactance curve (AX) were measured pre and post-salbutamol. Quantitative variables were compared using Mann-Whitney U test. Differences of categorical variables were evaluated usi…

Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect

Objective: To investigate whether exposure to inhibitors of gastric acidity, such as H2 blockers or proton pump inhibitors, can independently increase the risk of infections in very low birth weight (VLBW) preterm infants in the neonatal intensive care unit. Study design: This is a secondary analysis of prospectively collected data from a multicenter, randomized controlled trial of bovine lactoferrin (BLF) supplementation (with or without the probiotic Lactobacillus rhamnosus GG) vs placebo in prevention of late-onset sepsis (LOS) and necrotizing enterocolitis (NEC) in preterm infants. Inhibitors of gastric acidity were used at the recommended dosages/schedules based on the clinical judgmen…

LO SCORBUTO, SEGNALE DI ALLARME DI UN DISTURBO DELLO SPETTRO AUTISTICO

The authors describe the case of a 3-year-old girl with bleeding gums and leg pain finally diagnosed with vitamin C deficiency (scurvy) and autistic spectrum disorder (ASD). The increased risk of developing scurvy due to a restricted diet in children affected by ASD is stressed.

Il neonato ipotonico

Epidemiological assessment of Respiratory Syncytial Virus infection in hospitalized infants, during the season 2005–2006 in Palermo, Italy

Abstract Objectives Respiratory Syncytial Virus (RSV) is the leading cause of hospitalization for lower respiratory tract infections (LRTI) in young children worldwide. We evaluate the epidemiological and clinical patterns of RSV infection in infants hospitalized for LRTI in in Palermo, South Italy, Sicily. Methods We collected the demographic details of infants hospitalized to G. Di Cristina Children's Hospital in Palermo for LRTI between November 2005 and May 2006. We also included all cases occurred in newborns hospitalized in the Neonatal Intensive Care Unit (NICU) Of Palermo. Results During the studied period, 335/705 hospitalized infants for LRTI were enrolled in the study. The trend …

FOLLOW UP AUXOLOGICO IN UN BAMBINO CON FIBROSI CISTICA E DEFICIT DI GH

Espressività clinica in soggetti con mutazioni della marenostrina "asintomatiche": descrizione di una casistica.

Applicazione della PFGE nella sorveglianza da gram negativi multiresistenti in UTIN”, I Congresso Nazionale SIMPIOS; Bergamo, 20-22 maggio 2004

INFLIXIMAB IN THE TREATMENT OF PEDIATRIC IBD: A SINGLE CENTRE EXPERIENCE

MANIFESTAZIONI ADDOMINALI E GONADICHE NELLA PORPORA DI SCHÖNLEIN-HENOCH: ESTRAPOLAZIONE DALLA CASISTICA DELLA CLINICA PEDIATRICA DI PALERMO

Mutation analysis of the ΔR 608 mutation causing Niemann-Pick disease type B from blood spot cards in sicilian people

I POTENZIALI EVOCATI UDITIVI E VISIVI: MARKERS DI VASCULITE IN CORSO DI MALATTIA DI KAWASAKI

Epidemiology and diagnostic and therapeutic management of febrile seizures in the Italian pediatric emergency departments: A prospective observational study

AIM: Febrile seizures (FS) involve 2-5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs. METHODS: A multicenter prospective observational study was performed between April 2014 and March 2015. Patients between 1 and 60 months of age, randomly accessing to ED for ongoing FS or reported FS at home were included. Demographic features and diagnostic-therapeutic follow-up were recorded. FS were categorized in simple (&lt;10min), prolonged (10-30min) and status epilepticus (&gt;3…

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

not available

L'ipotonia congenita: cause genetiche

Resistin, adinonectin, leptin levels in adolescent with cystic fibrosis.

Duplication 12q21 in a patient with autistic disorder

Neonato con spettro facio-auricolo-vertebrale a piena espressività clinica e grave compromissione funzionale.

Definizione prognostica della malattia di Kawasaki: identificazione di markers ematochimici e clinici in una casistica personale

Survey of Italian Pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

&#x0D; Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto-consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents.&#x0D; Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package.&#x0D; Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them…

An unusual association of left‐sided gastroschisis and persistent right umbilical vein

Key Clinical Message Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team.

SINDROME DI PALLISTER KILLIAN. DESCRIZIONE DI UN CASO E CORRELAZIONE CLINICO GENETICA

SINDROME DI PALLISTER KILLIAN

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and The Impact On Final Height: Report of a Pedigree

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth. We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; father: 160 cm). ZM was first evaluated at the age of 6.8 years for disharmonic short stature: stature: 103.5 cm; SPAN: 99 cm. She was affected by SHOX-D (heterozygous missense mutation c414G&gt;C: p.Glu138Asp of the exon 3). The same mutation was first confirme…

Tante promesse... anche da noi

Monozygotic twins in history: enlightenment by mythology and ethnography

Abstract Birth in mankind is planned in single. The birth of twins is a rare event, occurring in about 1% of pregnancies. This chapter presents different aspects of mythology, history and ethnography for the better understanding of the meaning of twins throughout times. Twins are and will always be a source of artistic inspiration, cultural inheritance and social (re)interpretation.

2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype

In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.

WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS

Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.

TIROIDITE AUTOIMMUNE IN FENILCHETONURIA: DESCRIZIONE DI UNA NUOVA ASSOCIAZIONE

Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…

Gambling disorder in adolescents: what do we know about this social problem and its consequences?

Abstract Gambling disorder (GD) is a psychiatric condition and it is characterized by a maladaptive pattern of gambling behavior that persists despite negative consequences in major areas of life functioning. In Italy, CNR (National Research Council) underlined how over 17 million, 42.8% of the population aged 15–64 have a gambling behavior. Among them, there are over one million students, aged 15–19, equal to 44.2% of Italian students; the number of minors in Italy with GD in 2017 was 580,000, equal to 33.6%. Various psychosocial treatment models have been adapted for GD; on the other hand no drug has received regulatory approval in any jurisdiction as a specific psychopharmacological trea…

Deficit di G6PD: diagnosi fenotipica e genetica. Prevalenza e caratterizzazione molecolare delle varianti genetiche nella popolazione pediatrica siciliana.

Cisti congenita del surrene ad esordio intrauterino: dalla diagnosi prenatale all'intervento precoce

Empirical examination of the indicator ‘pediatric gastroenteritis hospitalization rate’ based on administrative hospital data in Italy

Background: Awareness of the importance of strengthening investments in child health and monitoring the quality of services in the pediatric field is increasing. The Pediatric Quality Indicators developed by the US Agency for Healthcare Research and Quality (AHRQ), use hospital administrative data to identify admissions that could be avoided through high-quality outpatient care. Building on this approach, the purpose of this study is to perform an empirical examination of the 'pediatric gastroenteritis admission rate' indicator in Italy, under the assumption that lower admission rates are associated with better management at the primary care level and with overall better quality of care for…

Lymphoproliferative disorders in Sotos syndrome: Observation of two cases

Sotos syndrome is included among the overgrowth disorders, most of which have an increased risk of neoplasms. Sotos syndrome does not appear to be related to a specific tumor type, but rather to the development of solid tumors of ectodermal or mesodermal origin in general. We report on two Sotos syndrome patients who developed a non-Hodgkin lymphoma and an acute lymphoblastic leukaemia, respectively. Our experience suggests that there may exist a high frequency of lymphoproliferative disorders in Sotos syndrome, and points out the importance of a long-term follow-up of Sotos syndrome patients, to detect a possible neoplastic evolution. ©1996 Wiley-Liss, Inc.

Outcome neonatale in stati di ipovitaminosiD

IDENTIFICAZIONE DI MARKERS EMATOCHIMICI E CLINICI UTILI NELLA DEFINIZIONE PROGNOSTICA DELLA MALATTIA DI KAWASAKI: ANALISI DI UNA CASISTICA PERSONALE

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based o…

Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect.

Intestinal atresia type III B (apple peel) and gastroschisis are both congenital malformations who require early surgical correction in neonatal age. Their association is very rare. We present the case of a full term infant with partial apple peel ileal atresia and a small defect of the anterior abdominal wall, complicated by in utero intestinal perforation and subsequent meconial peritonitis. We observed a partial atresia of small intestine, with involvement of terminal ileus savings of jejunum and a large part of the proximal ileum, small anterior abdominal wall defect with herniation of few bowel loops, intestinal malrotation. Paralytic ileus and infections are the main causes of morbidi…

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.

Abstract Background Congenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including stillbirths, neonatal death, and asymptomatic cases. Preterm infants with CS may have more severe features of disease than the term ones, due to the combined pathogenic effect of both CS and prematurity. Case presentation We report on a female preterm (32+6 weeks of gestation) newborn showing most of the typical CS manifestations, in addition to gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorp…

Malformazione Adenomatoide Cistica del polmone (CAM): il neonato asintomatico

DETECTION OF A NEW VIM TYPE METALLO-BETA-LACTAMASE (VIM 11) IN A PSEUDOMONAS AERUGINOSA CLINICAL ISOLATE FROM ITALY

Corsello G, Maresi E, Corrao AM, Dimita U, Lo Cascio M, Cammarata M, Giuffrè L (1992): VATER/VACTERL association: Clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet 44:813-815

Preterm birth: seven-year retrospective study in a single centre population

Preterm birth is a health and social problem, considered the leading cause of neonatal mortality worldwide. It is associated with higher rates of neurodevelopmental morbidity, sensorineural impairments and other complications. The aim of the study was to describe the incidence and the major risk factors associated with preterm birth. METHODS: We performed a single center, observational and retrospective Cohort study in the Division of Obstetrics and Gynaecology, University Hospital "G. Martino", Messina. Clinical records of all pregnant women who delivered from 1st January 2010 to 31 of December 2016 were collected. RESULTS: In the 7 years considered, a total of 7954 pregnant women were inc…

Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study

AbstractNecrotizing enterocolitis (NEC) is a typical disorder of preterm newborns, with a high mortality and morbidity rate. The therapeutic and nutritional management of disease depends on several factors. Its prognosis is linked, in addition to the severity of the disease and the need for surgery, to a correct enteral feeding in these patients. This study aims to identify the clinical characteristics of 18 patients with NEC, evaluating the different therapeutic paths undertaken, the type of formula used and the survival rate of this population. Average time of enteral nutrition before the NEC onset was 11,3 ± 11,6 days, with an average fasting period since the onset of 24 ± 18.9 days. 77.…

Genetic and clinical profile of a sicilian population with R92Q mutation

Gene TNFRSF1A mutation is linked to TRAPS, autosomal dominant Autoinflammatory Disease (AID) with recurrent attacks of fever (2-3 weeks long), abdominal pain, vomiting, serositis, arthralgia and/or arthritis, myalgia, fasciitis, rash. The disease starts precociously and amyloidosis is reported in the 25% of the patients. Patients carrying the mutation R92Q usually show a mild clinical phenotype, with an extreme interindividual variability. Arthralgia and serositis are frequently less severe, however oral ulcers and pharyngitis are recurrent. Objectives: We studied the clinical and biochemical impact of the mutation R92Q in our population and the treatment outcome in all the patients with cl…

Second hand smoke (SHS) exposure in asthmatic children is associated with social disadvantage and atopy

Atypical presentation of anti-N-methyl-D-aspartate receptor encephalitis: two case reports

Abstract Background Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and a difficult diagnosis. The disease is often secondary to a neoplastic lesion, seldom diagnosed years later. Psychiatric symptoms are prevalent in adults; neurologic symptoms are more evident in children, who typically present primarily with neurological symptoms. To the best of our knowledge, the association with juvenile idiopathic arthritis has not been described. Case presentation We report the cases of two caucasian girls with an atypical presentation. The first patient was an 8-year-old girl with normal psychomotor developmen…

ILDOLORE NELLA FIBROSI CISTICA

Cyberbullying a modern form of bullying: Let's talk about this health and social problem

Abstract Cyberbullying or electronic aggression has already been designated as a serious public health threat. Cyberbullying should also be considered as a cause for new onset psychological symptoms, somatic symptoms of unclear etiology or a drop in academic performance. Pediatricians should be trained to play a major role in caring for and supporting the social and developmental well-being of children.

Shotgun Proteomics of Isolated Urinary Extracellular Vesicles for Investigating Respiratory Impedance in Healthy Preschoolers

Urine proteomic applications in children suggested their potential in discriminating between healthy subjects from those with respiratory diseases. The aim of the current study was to combine protein fractionation, by urinary extracellular vesicle isolation, and proteomics analysis in order to establish whether different patterns of respiratory impedance in healthy preschoolers can be characterized from a protein fingerprint. Twenty-one 3–5-yr-old healthy children, representative of 66 recruited subjects, were selected: 12 late preterm (LP) and 9 full-term (T) born. Children underwent measurement of respiratory impedance through Forced Oscillation Technique (FOT) and no significant differen…

SINDROME DA ASTINENZA NEONATALE

Apoptosi linfocitaria CD95 e trail mediata in pazienti con pubertà precoce

Thyroid dysfunction in pediatric patients with mild-moderate chronic renal insufficiency

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.

INFLIXIMAB THERAPY IN MANAGING PEDIATRIC IBD

Chronic spontaneous urticaria or autoinflammatory disease? The therapeutic effect of omalizumab in a pediatric patient.

Chronic spontaneous urticaria (CSU) is a clinical condition characterized by spontaneous or inducible recurrent wheals. This condition may significantly affect quality of life of patients and of their families. Etiology is not identified in 25-85% of cases that are indicated as 'idiopathic', because all diagnostic tests are negative. Autoimmune processes may be present in 30-50% of patients, although a definite etiological diagnosis is seldom possible. Some patients, in fact, have autoantibodies against the high-affinity IgE receptor FceR1 or IgE. These patients show an increased incidence of anti-thyroid autoantibodies and represent 30-50% of the patients designated as having CSU. Familial…

Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study

Abstract Introduction Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Objectives Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. Materials and methods The TSH threshold of the neonatal screening was established as…

Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …

Stevens-Johnson syndrome and cholestatic hepatitis induced by acute Epstein-Barr virus infection

IL NEONATO VARIAMENTE GROSSO

Additional file 1 of The awareness and acceptance of anti-COVID 19 vaccination in adolescence

Additional file 1.

Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father

The coexistence of mutations in more than one gene, linked to Autoinflammatory Diesases, can confuse and make difficult the diagnosis and management of these patients, especially in childhood, when the clinical history is still brief.

Etiological heterogeneity and clinical variability in newborns with esophageal atresia

Abstract Background The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. Methods Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). Results We recruited 67 infants with EA (with or without tracheoesophageal f…

I gemelli: eterogeneità clinica e approccio multidisciplinare [Twins: Clinical heterogeneity and multidisciplinary approach]

The incidence of multiple pregnancy has increased during the last 15 years, particularly in relation to the advances in assisted reproductive technologies. Twins are conceived in about 1 in 80 pregnancies. Multiple gestations are high risk pregnancies, which may be complicated by pre-eclampsia, anemia, postpartum hemorrhage, pre-maturity, intrauterine growth restriction (IUGR), small for gestational age (SGA) newborn, neonatal morbidity and high perinatal, neonatal and infant mortality. Main complication is the twin-to-twin transfusion syndrome (TTTS) in monochorionic twin gestations; it is associated to high perinatal mortality and increased neurological, cardiovascular and renal dysfuncti…

Gestione clinica dei pazienti con trisomia a lunga sopravvivenza

Cocleo-labirintopatie nel bambino. Come non perdere l'equilibrio.

Cochleo-labyrinthopathy (CL) is an affection that involves cochlea and vestibular system. It occurs with the association of auditory symptoms (sensorineural hearing loss and tinnitus), vestibular symptoms (objective vertigo, unidirectional horizontal-rotary nystagmus and static or dynamic balance disorders) and neurovegetative signs (nausea, vomiting, pallor, sweating, etc.). The diagnosis may be difficult in paediatric age since the child is unable to clearly express their discomfort and symptoms. Multiple causes have been recognized but, in acute cases, infection is the most frequent etiological agent. The paper describes a case of CL due to Herpes Virus 1-2 infection responsive to acyclo…

QUELLE STRANE CHIAZZE....

ADIPONECTIN, LEPTIN, RESISTIN LEVELS IN CYSTIC FIBROSIS ADOLESCENTS

INTRODUCTION: Patients with Cystic Fibrosis, especially in adolescence, could develop endocrine and metabolic complications, related to nutritional state and chronic inflammation. They develop a progressive decrease in lean body mass correlated with the progression of lung disease. Adipose tissue is involved as well and adipocytokines are a possible link between malnutrition and long term complications. PATIENTS AND METHODS: In 24 Cystic Fibrosis adolescents we studied auxological, nutritional, glycometabolic, endocrine patterns, together with leptin, adiponectin and resistin levels. We selected patients not affected by diabetes, insulin resistance, malnutrition, acute inflammatory states s…

Deficit di GH e scarso accrescimento in fibrosi cistica: associazione casuale o causale ?

Patologia cromosomica complessa: mosaicismo a tre linee cellulari [(45,X/46,X,der (X)/46,X,der(X),t(X;12)] de novo in una paziente con note dismorfiche

Apolipoprotein E Genotypic Frequencies Among Down Syndrome Patients Imply Early Unsuccessful Aging for ApoE4 Carriers

Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.…

Il taglio cesareo tra urgenza ed elezione

Maxima debetur puero reverentia

Corticosteroidi nella HSP: l’enigma continua…

L’ADOLESCENTE CON PATOLOGIA DELL’EMOSTASI E MENOMETRORRAGIA: DALLA PROFILASSI AL FOLLOW-UP ENDOCRINO

The Italian paediatric society raccomandations on children and adolescents extra-domestic activities during the SARS COV-2 emergency phase 2

Abstract Background Due to novel coronavirus infection emergency, restricting measures have been imposed in Italy. As well as adults, also children are limited in their daily routine. Main text As the lockdown period is expected to end on 3rd May 2020, we discuss the opportunity for children to practice safely recreational or physical activity outdoor. Conclusion The Italian Paediatric Society recommends specific recreational and physical activities according to the age of the children and respecting social distancing.

A novel VIM‐type metallo‐beta‐lactamase (VIM‐14) in a Pseudomonas aeruginosa clinical isolate from a neonatal intensive care unit

AbstractA Pseudomonas aeruginosa highly resistant to carbapenems was isolated in a neonatal intensive care unit in Palermo, Italy. The strain was found to carry a novel VIM‐type enzyme, classified as VIM‐14. The novel enzyme differs from VIM‐4 in a G31S mutation. VIM‐14 was harboured in a class 1 integron with a new organization. The integron carried the genes aac7, blaVIM‐14, blaOXA‐20 and aac4 in that order.

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…

VDR MUTATION IN TWO SISTERS: PHENOTYPE VARIABILITY AND CLINICAL OUTCOME

Objectives: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease secondary to the mutation of vitamin D receptor (VDR) gene. These children show an early onset of rickets and in some of them alopecia is associated. Methods: We describe clinical features and laboratory findings in two sisters affected by HVDRR, as well as their response to treatment. Results: The first born is now 4 years old and had a severe and resistant hypocalcaemia, with low response to high doses of calcium per os, the requirement of intravenous infusion of calcium for a prolonged period, hypocalcaemic seizures resolved with high doses of intravenous calcium and high doses of vitamin D. Clin…

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Regarding the paucity of data in the literature, we describe the presented case with a view to further establishing: (1) a genotype/phenotype correlation in order to define a BFNE phenotype associated with favourable outcome; (2) a…

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…

Congenital malformations.

Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi- fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ita…

New application of heart rate variability in newborns at developmental risk

The correlation of functional pain and psychological distress: a study in Italian school students.

Abstract Background Functional Pain (not detectable organic cause) is often associated with psychological problems and, according to literature, it can lead to severe manifestations. The purpose of the study was to investigate the correlation between functional pain and psychological disagreement, in a series of school students. Methods An observational questionnaire-based study was performed. A questionnaire was given to a group of students of primary school; the following data were collected in the questionnaire: a) sex and age; b) functional pain; c) relation with relatives, teachers and schoolfellows: d) school failure. Statistical methods: P-value of concordance test and P-value of cor…

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…

La sequenza di Pierre Robin: quando l’approccio conservativo fallisce

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report

Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. “Pyogenic arthritis, pyoderma gangrenosum and acne syndrome” is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid …

PROFILO ENDOCRINO E DENSITA’ MINERALE OSSEA IN ADOLESCENTI CON COAGULOPATIE CONGENITE IN TERAPIA CON ESTROPROGESTINICI

Associazione CHARGE: descrizione di 2 casi con elevata espressività clinica.

Safety and efficacy of a probiotic-containing infant formula supplemented with 2'-fucosyllactose: a double-blind randomized controlled trial

Abstract Background Human milk oligosaccharides (HMOs) have important and diverse biological functions in early life. This study tested the safety and efficacy of a starter infant formula containing Limosilactobacillus (L.) reuteri DSM 17938 and supplemented with 2’-fucosyllactose (2’FL). Methods Healthy infants &lt; 14 days old (n = 289) were randomly assigned to a bovine milk-based formula containing L. reuteri DSM 17938 at 1 × 107 CFU/g (control group; CG) or the same formula with added 1.0 g/L 2’FL (experimental group; EG) until 6 months of age. A non-randomized breastfed group served as reference (BF; n = 60). The primary endpoint was weight gain through 4 months of age in the formula-…

Neuropatia periferica in corso di infezione da Helicobacter pylori e Mycoplasma Pneumoniae.

Non c'é due senza tre: una sindrome autoinfiammatoria "complessa"

L'alimentazione del neonato oggi.

Current status of laboratory and imaging diagnosis of neonatal necrotizing enterocolitis

Abstract Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not definitively understood. It is known that necrotizing enterocolitis is secondary to a complex interaction of multiple factors that results in mucosal damage, which leads to intestinal ischemia and necrosis. Advances in neonatal care, including resuscitation and ventilation support technology, have seen increased survival rates among premature neonates and a concomitant detection in the incidence of this intestinal disease. Diagnosis can be difficult, and identifying infants at …

Communication about vaccination: A shared responsibility

ABSTRACT Vaccine hesitancy is an important issue to be addressed, due to the risk of decrease of vaccination coverage and consequent control of preventable diseases. While it is not considered a specific determinant, poor or inadequate communication can contribute to vaccine hesitancy and negatively influence vaccination uptake. As a contribution to the ongoing discussion regarding this theme and in the perspective of the implementation of the upcoming national vaccination plan in Italy, the Erice Declaration was drafted by experts in the field of immunization following a 5-day residential, independent workshop regarding communication topics in vaccinology. The aim of the current letter is …

Sindrome di Pfeiffer:identificazione di una nuova mutazione nel gene FGFR2

Metabolomics in the diagnosis of sepsis

IntroductionSepsis is an important cause of mortality and morbidityfor preterm and hospitalized newborn babies. Today, nosingle test satisfies the criteria as being the ideal markerfor the early diagnosis of neonatal sepsis. Analysis of theentire metabolome is a promising method for determin-ing metabolic variations correlated with sepsis [1-6].Metabolomics profiling and sepsisWorks on metabolomics concerning sepsis conductedon animals and humans of different ages (newborn andadults) have recently been published and are presentedin Table 1. In septic patients compared to controls (inplasma and urine) it is possible to observe an increaseof metabolites which are part of the oxidative metabo-…

Il Neonato con genitali ambigui: attivazione del Registro Nazionale del Protocollo Diagnostico Multidisciplinare della SIN

Incremento dei livelli di 17-idrossiprogesterone in pazienti con sclerosi multipla in età pediatrica

SAIApp: un'app dell'Università di Palermo dedicata ai bambini con malattie autoinfiammatorie

Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

Background The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test for numerous diseases using new technique such as tandem mass spectrometry have made it practical to greatly expand the number of conditions tested. The expanded neonatal screening is now available and relatively simple, but this represents only a part of the picture. Positive results require follow-up confirmation. Most disorders screened require confirmatory biochemical or genetic tests and specialist visits. An efficient system is needed …

Children Witnessing Domestic and Family Violence: A Widespread Occurrence during the Coronavirus Disease 2019 (COVID-19) Pandemic

Across the world, children and adolescents are exposed daily to toxic levels of violent behaviors, including domestic and family violence. Violence increasingly has permeated and profoundly affected the lives of children, who are the most vulnerable members of society.1 Pediatric societies in Europe and North America have raised great concern over the effect that abusive experiences will have on present and future generations.1, 2, 3, 4 The global spread of coronavirus disease 2019 (COVID-19) during the past year has dramatically worsened the situation, contributing to a further increase in violence and aggression within households. Reports of domestic abuse and family violence have increas…

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de no…

La medicina preventiva, patrimonio culturale dei pediatri. I. Argomenti emergenti per il bambino, anzi, già per il neonato

Mandatory vaccinations in European countries, undocumented information, false news and the impact on vaccination uptake: the position of the Italian pediatric society

Abstract Background High rates of vaccination coverage are important in preventing infectious diseases. Enforcing mandatory vaccinations is one of the strategies that some Countries adopted to protect the community when vaccination coverage is not satisfactory. In Italy, in 2017 vaccination against diphtheria, tetanus, pertussis, hepatitis B, poliovirus, Haemophilus influenzae type b, measles, mumps, rubella and varicella became compulsory in childhood. In order to contrast vaccination policies, anti-vaccination campaigns contribute to the spread of fake news. Among them, there is the false information that Italy is the only one country with mandatory vaccination policy. Aim of our study is…

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations

Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…

Media use during adolescence: the recommendations of the Italian Pediatric Society

Abstract Background The use of media device, such as smartphone and tablet, is currently increasing, especially among the youngest. Adolescents spend more and more time with their smartphones consulting social media, mainly Facebook, Instagram and Twitter because. Adolescents often feel the necessity to use a media device as a means to construct a social identity and express themselves. For some children, smartphone ownership starts even sooner as young as 7 yrs, according to internet safety experts. Material and methods We analyzed the evidence on media use and its consequences in adolescence. Results In literature, smartphones and tablets use may negatively influences the psychophysical d…

Recognizable neonatal clinical features of aplasia cutis congenita

Abstract Background Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological cutaneous protection and to limit the risk of fluid leakage or rupture of the exposed organs. We aimed to review our institutional prevalence, comorbidities, treatment and outcome of newborns with ACC. Methods We conducted a retrospective study including all newborns affected by ACC and …

Inhaled Surfactant in the treatment of accidental Talc Powder inhalation: a new case report

Abstract The use of talcum powder is incorrectly part of the traditional care of infants. Its acute aspiration is a very dangerous condition in childhood. Although the use of baby powder has been discouraged from many authors and the reports of its accidental inhalation have been ever more rare, sometimes new cases with several fatalities have been reported. We report on a patient in which accidental inhalation of baby powder induced severe respiratory difficulties. We also point out the benefits of surfactant administration. Surfactant contributed to the rapid improvement of the medical and radiological condition, preventing severe early and late complications and avoiding invasive approac…

The Burden of Respiratory Syncytial Virus Disease in Pre-Term Infants

This mini-review summarises the risk factors for acquiring Respiratory Syncitial Virus (RSV) infection, and describes the harmful effects of the infection in pre-term infants. Moreover, theoretical considerations are discussed for the prevention of RSV infection in high-risk infant categories, such as pre-term infants. Background: Neonates positive for RSV are more prone to severe infection than neonates infected with other common respiratory viruses. Despite RSV infection being more common in late neonates than in early ones, pre-term infants ≤ 35 wk gestational age (GA) are at high risk for developing severe RSV disease. Efforts to prevent infection include case management, vaccination an…

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

AbstractBackgroundHypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood.Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis.Case presentationWe report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significanc…

Systemic lupus erythematosus and bullous pemphigoid with dramatic response to dapsone

Patient: Female, 11 Final Diagnosis: Bullous pemphigoid in systemic lupus erythematosus Symptoms: Bullous lupus • photosensitive rash • synovitis Medication:— Clinical Procedure: Pharmacological treatment Specialty: Rheumatology Objective: Unusual clinical course Background: Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. Case Report: We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin les…

ENDOCRINE, AUXOLOGICAL AND CLINICAL FOLLOW UP IN CONNATAL HIV-INFECTED CHILDREN: PERSONAL EXPERIENCE

Due casi di sclerosi tuberosa (o malattia di Bourneville) da mutazione del gene TSC2.

Utilità degli ASCA nel follow up della malattia di Crohn.

LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS

Human growth and development, starting from conception, are characterized by a progressive increase in body and organ dimensions, as well as specific functional maturity, under the influence of genetic as well as environmental and epigenetic determinants. Beyond a possible normal familial trait, increased fetal growth resulting in a large for gestational age newborn, isolated macrosomia or that associated with congenital malformation, can be attributable to both maternal metabolic and genetic pathology. Overgrowth syndromes are a heterogeneous group of diseases characterized by excessive tissue development often concomitant to neurodevelopmental involvement. Recently, an increased risk of f…

Il Dolore nelle malattie infantili

Policistosi ovarica e gonadoblastoma in sindrome di Turner SRY positiva

Perinatal management of gastroschisis

Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burden…

TUBEROUS SCLEROSIS COMPLEX IN A PATIENT CARRYING AN ATYPICAL GENOMIC REARRANGEMENT

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

Preventive Effect of Cow's Milk Fermented with Lactobacillus paracasei CBA L74 on Common Infectious Diseases in Children: A Multicenter Randomized Controlled Trial

Background: Fermented foods have been proposed to prevent common infectious diseases (CIDs) in children attending day care or preschool. Objectives: To investigate the efficacy of dietary supplementation with cow’s skim milk fermented with the probiotic Lactobacillus paracasei CBA L74 in reducing CIDs in children attending day care or preschool. Methods: Multicenter, randomized, double-blind, placebo-controlled trial on healthy children (aged 12–48 months) consuming daily 7 grams of cow’s skim milk fermented with L. paracasei CBA L74 (group A), or placebo (maltodextrins group B) attending day care or preschool during the winter season. The main outcome was the proportion of children who exp…

Advances in paediatrics in 2019: current practices and challenges in allergy, endocrinology, gastroenterology, public health, neonatology, nutrition, nephrology, neurology, respiratory diseases and rheumatic diseases

AbstractWe highlight the main developments that have been published during the first semester of the last year in the Italian Journal of Pediatrics. We have carefully chosen information from numerous exciting progresses issued in the Journal in the field of allergy, endocrinology, gastroenterology, neonatology, nutrition, nephrology, neurology, public health, respiratory diseases and rheumatic diseases. The impact on the care of patients has been placed in the broader context of studies that appeared in other journals. We think that many observations can be used directly to upgrade management of patients.

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…

Il neonato ipossico

Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving the chromosomes X and 21. First report in a male newborn patient

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including …

Le insidie dell'orticaria cronica: dall'iter diagnostico condiviso alle strategie terapeutiche

Il latante: le particolari attenzioni nel primo anno di vita

UTILIZZO DI FONTI INFORMATIVE MULTIPLE E PUNTI DI CRITICITA’ PER INTERVENTI DI SANITA’ PUBBLICA IN TEMA DI MORTALITA’ INFANTILE. Un’esperienza condotta in SICILIA

Multiple food intolerance or refractory celiac sprue?

The Italian longitudinal cohort of newborn twins: A research opportunity

La trombofilia ereditaria e le complicanze gravidiche nella popolazione siciliana.

STUDIO DELLA FUNZIONALITA’ TIROIDEA NELL’INSUFFICIENZA RENALE CRONICA LIEVE-MODERATA: CASISTICA PEDIATRICA

Sorveglianza dello sviluppo in soggetti con anomalie del setto pellucido. descrizione di un caso con agenzia isolata.

malformazioni cerebrali, anomalie setto pellucido

Test genetici: ambiti di applicazione, limiti, prospettive.

Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.

Abstract Background In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. Aims To evaluate a possible correlation between TNFα, IFNγ and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods Single nucleotide polymorphisms of TNFα (−308G → A promoter region), IFNγ (+874T → A promoter region) and IL-10 (−1082G → A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease–Down syndrome patients. Results The 10 coeliac disease–D…

Infliximab and emerging biological treatment for pediatric Crohn’s disease.

PUBERTA’ PRECOCE IN SINDROME DI COSTELLO: FOLLOW-UP DI UNA RARA ASSOCIAZIONE

Unusual paroxysmal autonomic manifestations in a 22 month old girl

10qter deletion: A new case

Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes. So far, over 19,000 patients with mental retardation have been tested and reported of whom -2.5% appeared to have a subtelomeric rearrange¬ment [Ravnan et al., 2006; Ballif et al., 2007; Ledbetter and Martin, 2007]. Since the identification of sub¬microscopic subtelomeric rearrangements as a major cause of mental retardation [Flint et al., 1995], testing for s…

Clinical and genetic approach in the characterization of newborns with anorectal malformation

Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). Study design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. Results: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: with…

Displasia setto-ottica,; descrizione di un caso ad esordio precoce.

FOLLOW-UP 2003-2008 DEI NATI VERY LOW BIRTH WEIGHT: ESITI NEUROLOGICI

Il dolore nell'ambulatorio del pediatra

NF1 microdeletion syndrome: case report of two new patients

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…

Identification of bronchiolitis profiles in Italian children through the application of latent class analysis

AbstractBackgroundBronchiolitis is the primary infection of the lower respiratory tract in children under 2 years of age. Although it is generally considered a single nosological entity, recent studies suggested remarkable clinical heterogeneity. To date, no studies have identified classes of children with bronchiolitis within the Italian population. This study aimed to identify discrete profiles of Italian children hospitalized with bronchiolitis using a clustering approach and to compare findings with those obtained in international cohorts.MethodsThis was a retrospective single-centre study conducted on children aged ≤2 years hospitalised with bronchiolitis (n = 401) at the Department of…

Da uno a 14 anni e dai 15 a 19: fra gioco e scuola

Una nuova mutazione nell’esone 4 del gene del FVIII causa un quadro di emofilia moderata.

INTRODUZIONE. L’emofilia su scala mondiale rappresenta la più comune diatesi emorragica X linked. In Sicilia circa 140 famiglie sono soggette a tale condizione. Clinicamente l’emofilia è distinta in forma severa, moderata e lieve in base all’attività del fattore VIII (F8). La forma grave dell’emofilia A è caratterizzata dalla assenza di fattore VIII plasmatico e dall’attività del fattore VIII plasmatico < 1% ed è causata per il 50 % dalla inversione dell’introne 22 del gene del fattore VIII e per il 5% dalla inversione dell’introne 1. La restante parte di alterazioni genetiche riguarda numerose mutazioni puntiformi tipo missense, non-sense e frameshift. La forma moderata è dovuta più freque…

Preditttori fetali di aterosclerosi

Trisomia parziale prossimale 1q in diagnosi prenatale

Reference values of blood cell counts in the first days of life

The lack of updated neonatal reference values for hematological parameters impacts significantly with clinical management of both healthy and sick newborns. The present pilot study was thus aimed at assessing updated hematological Italian reference values in late preterm and term newborns. From January 2004 to December 2008 hematological laboratory tests were performed in 1175 newborns (820 healthy and 355 sick controls) between 33-41 weeks of gestation, during the first four days after birth. Hematological parameters were sorted for gender and gestational age and statistically analyzed. No gender-related differences were observed at different weeks of gestation and no significant differenc…

High mobility group box 1 and markers of oxidative stress in human cord blood.

Background Parturition induces considerable oxidative stress and many inflammatory mediators, such as high mobility group box 1 (HMGB1), are involved from the beginning of the pregnancy to birth. The aim of the present study was to evaluate serum cord blood concentration of diacron-reactive oxygen metabolites (d-ROM), biological antioxidant potential (BAP), and HMGB1 to investigate the perinatal oxidative status of neonates and correlation with mode of delivery, as well as the influence of labor. Methods The subjects consisted of 214 neonates delivered at University Hospital "G. Martino", Messina, in a 6 months period. Venous blood samples were collected from the umbilical cord after cord s…

Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence.

Abstract Maternal hyperphenylalanemia during pregnancy may induce a severe embryopathy characterized by microcephaly, mental retardation, facial dysmorphy and congenital heart defects. Four subjects, two pairs of sibs, with maternal hyperphenylalaninemia syndrome were included in this study and their neuropsychological performances were assessed. Maternal levels of hyperphenylalaninemia were similar in both mothers, one of them had not been diagnosed with the condition until her two children were examined at the ages of 10 and 6 years. A severe cognitive deficit was detected in all 4 subjects, with a typical profile of impaired perceptive abilities, behavioural disturbances, motor difficult…

Displasia multicistica renale in rene ectopico: descrizione di un caso con anamnesi positiva per assunzione di farmaci antiepilettici della madre in gravidanza

The "Honeymoon Phase" in Children with Type 1 Diabetes Mellitus (T1DM): Frequency, Duration and Predictive Factors at Onset

Abstract: Aim of thè study was: to analyze thè epidemiological features of paediatric T1DM at onset and their relation to remission frequency and duration in thè first year of disease, to assess clinical effìcacy of Glucose Evaluation Trial REMission (GETREM) protocol in terms of induction and maintenance of thè "honeymoon phase" and to evaluate Insulin Dose-Adjusted A1C values at onset [IDAA1C = HbAlc% + (Insulin U/Kg/die x 4)] as a predictor of remission. 181 patients less than 15 years of age were admitted at our Department for T1DM onset and were treated according to GETREM protocol in thè years 2008-2011. The following data were recorded at onset: age, sex, modality of onset according …

Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study

Abstract Background Hypospadias is a congenital displacement of the urethral meatus in male newborns, being either an isolated defect at birth or a sign of sexual development disorders. The aim of this study was to assess the prevalence rate of hypospadias in different Districts of Italy, in order to make a comparison with other countries all over the world. Methods We reviewed all the newborns file records (years 2001–2004) in 15 Italian Hospitals. Results We found an overall hypospadias prevalence rate of 3.066 ± 0.99 per 1000 live births (82.48% mild hypospadias, 17.52% moderate-severe). In newborns Small for Gestational Age (birthweight th percentile) of any gestational age the prevalen…

Duplicazione de novo 9p22.3 in diagnosi prenatale

Cardiofacio cutaneous syndrome: Notes on clinical variability and natural history

Role of poultry meat in a balanced diet aimed at maintaining health and wellbeing: an Italian consensus document

The relationship between the consumption of meat and health is multifaceted, and it needs to be analyzed in detail, with specific attention to the relevant differences that characterize the effects of the different meat types, as yet considered by only a limited literature. A variable but moderate energy content, highly digestible proteins (with low levels of collagen) of good nutritional quality, unsaturated lipids (mainly found in the skin and easily removed), B-group vitamins (mainly thiamin, vitamin B6, and pantothenic acid), and minerals (like iron, zinc, and copper) make poultry meat a valuable food. Epidemiological studies performed across the world, in highly diverse populations wit…

Identificazione di due nuove mutazioni del gene NF1 in pazienti affetti da neurofibromatosi

Studio dei potenziali evocati uditivi e visivi nella malattia di Kawasaki: markers di vasculite e conferma diagnostica

Displasia setto-ottica: descrizione di un caso con progressivo deterioramento dei PEV

COVID 19 vaccine in the pediatric age: the recommendation of the Italian Pediatric Society

AbstractVaccine is an important and effective tool to protect from preventable infectious diseases. Neverthless, in the COVID-19 pandemic era, scientific and accurate information are required to responde to false and misleading information on efficacy and safety of immunization in the pediatric age.

LEPTIN LEVELS IN ASYMPTOMATIC COELIAC ADOLESCENTS: ONE YEAR OF FOLLOW-UP IN GLUTEN-FREE DIET

Sviluppo dell'apparato genitale maschile - Genitali piccoli

The value of FeNO measurement in childhood asthma: uncertainties and perspectives

Asthma is considered an heterogeneous disease, requiring multiple biomarkers for diagnosis and management. Fractional exhaled nitric oxide in exhaled breath (FeNO) was the first useful non-invasive marker of airway inflammation in asthma and still is the most widely used. The non-invasive nature and the relatively easy use of FeNO technique make it an interesting tool to monitor airway inflammation and rationalize corticosteroid therapy in asthmatic patients, together with the traditional clinical tools (history, physical examination and lung function tests), even if some controversies have been published regarding the use of FeNO to support the management of asthma in children. The problem…

The power of stories in Pediatrics and Genetics

On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was “Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel”. The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, h…

L’ADOLESCENTE CON IPOGONADISMO IPOGONADOTROPO: LA CENTRALITA’ DEL RUOLO DEL PEDIATRA

Diagnosi genetica pre e post-natale: clinica ed etica

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparent…

Brainstem Auditory Evoked Potentials and Visual Potentials in Kawasaki Disease: An Observational Monocentric Study

Background: Kawasaki Disease is a systemic vasculitis, particularly involving coronary arteries. Rare involvement of other vascular districts is described, as central nervous system arteries, leading to a vasculitic neuropathy. Sensorineural hearing loss and alterations of evoked potentials are uncommonly reported complications.Methods: In an observational monocentric study, 59 children (37 males; 22 females; mean age: 2.7 ± 2.2 years) with documented Kawasaki Disease were enrolled. No risk factors for hearing loss and/or neurological impairment were identified in the cohort. Brainstem auditory evoked potentials and visual evoked potentials were correlated with clinical, hamatological and r…

Surveillance of multidrug-resistant gram-negative bacilli in a neonatal intensive care unit: prominent role of cross transmission

Background Multidrug-resistant gram-negative bacilli (MDRGN) are an important cause of nosocomial infections in neonatal intensive care units (NICUs). We conducted a 1-year prospective surveillance study in an NICU to assess the epidemiology of MDRGN among newborns and the relative importance of acquisition routes. Methods Neonates admitted at the NICU of the Dipartimento Materno-Infantile, University Hospital, Palermo, Italy, from January 7, 2003, to January 6, 2004, were included in the study. Colonization of patients with MDRGN was assessed by cultures of rectal swabs sampled twice a week. Pulsed-field gel electrophoresis was used to determine relatedness among MDRGN isolates. Extended-s…

GROWTH HORMONE TREATMENT IN A PATIENT WITH LANGER MESOMELIC DYSPLASIA

An Unusual Oral Swelling

A 7-year-old female was admitted for worsening swelling under her tongue associated with fever and difficulty swallowing. She had sustained head and neck bicycle handlebar trauma 2 weeks before the admission. She was noted to have a cystic and ballotable mass appearing in the floor of mouth. The lesion was evaluated by an otorhinolaryngologist who aspirated 15 mL of mucoid- appearing fluid, which led to collapse of the floor of mouth swelling and alleviation of dysphagia. The patient was placed on a clear liquid diet, which was advanced to a regular diet over 3 days and completed a 10-day course of clindamycin. Neck magnetic resonance imaging revealed persistence of a single cystic mass of …

Autosomal dominant and sporadic radio-ulnar synostosis.

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.

Kawasaki disease: Guidelines of Italian Society of Pediatrics, part II - Treatment of resistant forms and cardiovascular complications, follow-up, lifestyle and prevention of cardiovascular risks

Abstract This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications, including non-pharmacologic treatments, follow-up, lifestyle and prevention of cardiovascular risks in the long-term through a set of 17 recommendations. Guidelines, however, should not be considered a norm that limits the treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient’s condition, and disease severity or individual complications.

Epidemiology, Clinical Features and Prognostic Factors of Pediatric SARS-CoV-2 Infection: Results From an Italian Multicenter Study

Background: Many aspects of SARS-CoV-2 infection in children and adolescents remain unclear and optimal treatment is debated. The objective of our study was to investigate epidemiological, clinical and therapeutic characteristics of pediatric SARS-CoV-2 infection, focusing on risk factors for complicated and critical disease.Methods: The present multicenter Italian study was promoted by the Italian Society of Pediatric Infectious Diseases, involving both pediatric hospitals and general pediatricians/family doctors. All subjects under 18 years of age with documented SARS-CoV-2 infection and referred to the coordinating center were enrolled from March 2020.Results: As of 15 September 2020, 75…

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…

Vantaggi della RMN intestinale a doppio contrasto nel monitoraggio del Crohn Pediatrico Fistolizzante

Le cardiopatie congenite nella sindrome di Down: contributo clinico

Congenital rubella sindrome in an extremely low birth weight infant

RELATIONSHIP BETWEEN SECOND HAND SMOKE (SHS) EXPOSURE AND ATOPY IN SOCIAL DISADVANTAGED ASTHMATIC CHILDREN

Upper and Lower Limb Strength and Body Posture in Children with Congenital Hypothyroidism: An Observational Case-Control Study

Background: Congenital hypothyroidism (CH) is an endocrine disease with a precocious significant impairment of growth and neuromotor development. Thyroid hormones are essential for central nervous system development, maturation, and myelination. Furthermore, thyroid hormone deficiency affects the function of several systems, including the musculoskeletal system. The disease has a significant incidence in the general population (1:3000–1:2000 newborns in Italy). The aim of the present study was to evaluate any differences in upper and lower limb strength, body sway, and plantar loading distribution in children with CH compared to healthy children. Methods: In this study, the case group was c…

Le problematiche IUGR nei gemelli

Intrauterin Growth Retardation is more common among twins than singleton. The reduction of intrauterine enviroment and level of transplacental diffusion of nutrients are main responsible factors. Moreover, anastomosis of vessels between the arterial and venous systems of twins may induce a different irroration and a discordance of growth. Levels of discordane greater than 25% between twin may be associated with a twin¬twin transfusion syndrome, in which the donor is pale and ischemic and the recipient shows hemodynamic troubles within the spectrum of a hyperviscosity syn¬drome. These twins show an additional risk of morta¬lity and morbidity with respect to singleton and con¬cordant twins. T…

Generalized anasarca as way of presentation of severe protein losing enteropathy.

GENDER DIFFERENCES IN RHINITIC CHILDREN

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.

No abstract available

Un nuovo caso di microdelezione 15qter: valutazioni cliniche, genetiche e molecolari

Per una migliore comprensione patogenetica del ritardo mentale (RM) in combinazione o meno con le manifestazioni malformative, i tests di laboratorio sono di notevole importanza. La metodica CGH Array ha migliorato la sensibilità nella valutazione dei punti di rottura nelle delezioni cromosomiche. Qui presentiamo un caso di delezione 15q26.2-15qter in un bambina con medie note dismorfiche esterne (come la clinodattilia), interne (doppio distretto renale a destra) ed alcune alterazioni del linguaggio. L'analisi GCH Microarray è stata effettuata estraendo da linfociti di sangue periferico (Puregene DNA isolation kit, Gentra) e marcando (Cy5) il DNA del probando e realizzando l'Array CGH (Agil…

IX SINDROME DI RETT DA AMPIA DELEZIONE DEL GENE MeCP2.

STATURA DEFINITIVA NELL’APLOINSUFFICIENZA DEL GENE SHOX: VARIABILITA’ INTRA-FAMILIARE

Causa genetica di bassa statura disarmonica, l’aploinsufficienza del gene SHOX (SHOX-D) presenta differente espressione fenotipica anche in pazienti con eguale genotipo, con verosimile influenza di fattori epigenetici in grado di condizionare anche la risposta alla terapia con GH e la statura definitiva. Descriviamo il caso di un nucleo familiare (madre, 2 sorelle) con SHOX-D. Statura target: 146.8 cm (-2.6SDS); madre: 146.5 cm; padre: 160 cm). ZM è stata studiata all’età di 6,8 aa per bassa statura disarmonica: statura: 103.5 cm (-3SDS); SPAN: 99 cm; (BA: 6 aa). È stata documentata la mutazione missenso del gene SHOX (c414G&gt;C: p.Glu138Asp dell’esone 3) ed iniziata terapia con GH. La ste…

Anastomosi primaria nell'atresia esofagea: risultati del follow-up

Il sistema di educazione continua in medicina [The system of continuous medical education]

The system of continuous education in medicine, recently revisited in Italy by the Minister/ of Health, is a pool of procedures finalized to guarantee the periodic accumulation of credits for the sanitary personnel, on the basis of the needs and requests of medical activities. Pediatricians, those medical doctors which take care of newborns, infants, children and adolescents, both in primary and hospital care, must receive both residential and distance formation. A multidisciplinary approach of general and spécialiste pediatrics must be guaranteed by scientific societies and sponsors.

Duplicazione parziale Xq22.3-Xq25 in un soggetto di sesso femminile con anomalie fenotipiche

Grave ipotonia neonatale con artrogriposi: descrizione di un caso clinico e problematiche diagnostiche

Febbre mediterranea familiare: un caso atipico con esordio precoce.

DOLORE PSICOGENO IN BAMBINI E ADOLESCENTI A SCUOLA E IN OSPEDALE. DATI PRELIMINARI

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment

The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by arra…

Effect of fermented milk with Lactobacillus paracasei CBA L74 on gastrointestinal and respiratory infections in children: multicenter randomized controlled trial

ALTERAZIONI PRECLINICHE CAROTIDEE E PATTERN PRESSORI IN UNA POPOLAZIONE DI BAMBINI E ADOLESCENTI CON DIABETE MELLITO DI TIPO 1: STUDIO PRELIMINARE

OBIETTIVI Il diabete mellito tipo 1 (DMT1) è caratterizzato da un’ elevata mortalità per cardiovasculopatie e l’ipertensione contribuisce signifi cativamente allo sviluppo e progressione del processo aterosclerotico. Scopo di questo studio è quello di valutare, in bambini e adolescenti con DMT1, la prevalenza di anomalie dei pattern pressori rilevati dal monitoraggio ambulatoriale 24h della pressione arteriosa (ABPM) e di alterazioni morfologiche precliniche carotidee. METODI I soggetti affetti da DMT1, in trattamento insulinico multiiniettivo, normoalbuminurici e con durata di malattia &gt; di 2 anni, sono stati reclutati tra quelli afferenti alla U.O.S. di Diabetologia Pediatrica della U.…

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Trisomia da interscambio da traslocazione cromosomica reciproca bilanciata materna

Do children and adolescents with idiopathic short stature show postural alterations? Possible influence of SHOX haploinsufficiency in a pilot study

Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may affect posture. The aim of this study was to evaluate postural characteristics in patients with ISS.

Impact of Candida species colonization and azoles resistance in a neonatal intensive care unit

Background: Candida species are among the top 10 most frequently isolated nosocomial bloodstream pathogens in Europe. In particular, in neonatal intensive care units (NICUs) Candida infections are an emerging concern because of the increasing incidence, the related high morbidity and mortality rates reported. Moreover, the epidemiology of Candida infection rapidly changed in these years leading to the selection of less sensitive strains and species. Surveillance studies are mandatory to identify the local distribution of species, their antifungal susceptibility profiles and the emergence of resistance strains. Material/methods: From December 2012 we performed a cohort prospective surveillan…

Urinary (1)H-NMR and GC-MS metabolomics predicts early and late onset neonatal sepsis.

The purpose of this article is to study one of the most significant causes of neonatal morbidity and mortality: neonatal sepsis. This pathology is due to a bacterial or fungal infection acquired during the perinatal period. Neonatal sepsis has been categorized into two groups: early onset if it occurs within 3-6 days and late onset after 4-7 days. Due to the not-specific clinical signs, along with the inaccuracy of available biomarkers, the diagnosis is still a major challenge. In this regard, the use of a combined approach based on both nuclear magnetic resonance (H-1-NMR) and gas-chromatography-mass spectrometry (GC-MS) techniques, coupled with a multivariate statistical analysis, may hel…

Biochemical markers in Celiac disease.

Celiac Disease is a worldwide spread condition affecting 1:100-1:200 individuals. It is a permanent food intolerance to ingested gluten in genetically predisposed subjects. In this review we analyze the biochemical markers of the disease going from laboratory findings to histology passing through genetics. Gluten intolerance is a unique model of autoimmune disease in which we can recognize the main environmental factor (gluten) and the more complex genetic background. In additional way, serological markers for monitoring the disease and a safe and effective therapy (gluten free diet) are also available. In deed the environmental factor such as gluten intake is necessary to trigger the disea…

La sindrome di prader-Willi: una realtà nuova per una malattia già classica

Maternal Diet and Nutrient Requirements in Pregnancy and Breastfeeding. An Italian Consensus Document.

The importance of lifestyle and dietary habits during pregnancy and breastfeeding, for health of mothers and their offspring, is widely supported by the most recent scientific literature. The consumption of a varied and balanced diet from the preconceptional period is essential to ensure both maternal well-being and pregnancy outcomes. However, the risk of inadequate intakes of specific micronutrients in pregnancy and lactation is high even in the most industrialized countries. This particularly applies to docosahexaenoic acid (DHA), iron, iodine, calcium, folic acid, and vitamin D, also in the Italian population. Moreover, the risk of not reaching the adequate nutrient supply is increased …

Aplasia surrenalica congenita X-Linked in una coppia di fratelli: follow up sino all'età puberale

An unusual traumatic ulceration of the tongue

No abstract

Duodenal Giardiasis: a diagnosis we should not neglect

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…

Platelet count and MPV as predictive markers of atherosclerosis in familial Mediterranean fever

Familial Mediterranean Fever (FMF) is an auto inflammatory syndrome, characterized by recurrent febrile episodes, arthritis, oral aphthous stomatitis, rash, serositis, abdominal and thoracic pain. Longterm outcome is conventionally linked to the severity of the recurrent attacks and to the risk of systemic amyloidosis. However recent studies highlighted the role of chronic inflammatory diseases in the insurance of atherosclerosis. Risk factors for atherosclerosis are also recently identified in a higher medium platelet volume (MPV).

Nutrizione e genetica

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. Objective and hypotheses: Isolated aldosterone synthase deficiency should be considered in neonates and infants with failure to thrive and salt wasting. Normal levels of…

Epidemiologia Della Sordità Geneticamente Trasmessa Nella Popolazione Siciliana

Epilessia temporale e manifestazioni parossistiche neurovegetative in età prescolare: descrizione di un caso clinico emblematico

Circolazione di Gram-negativi produttori di ESBL in una unità di terapia intensiva neonatale.

Perlman syndrome: Clinical report and nine-year follow-up

We present the clinical and follow-up data of a female infant with Perlman syndrome from birth to the age of 9 years. Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor. In our patient, the nephromegaly with nephroblastomatosis was not present at birth or during the neonatal period; it became evident in the first months of postnatal life. A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected…

Mild twin–twin transfusion syndrome: Clinical report.

Sindrome di Sotos: descrizione di un caso da ampia delezione del gene NSD1

FOLLOW-UP AUXOLOGICO ED ENDOCRINO IN PAZIENTI CON SINDROME DI WILLIAMS IN ETA’ EVOLUTIVA

Auxological, metabolic and endocrine follow-up in patients treated with valproic acid

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…

Levetiracetam in Neonatal Seizures as First-line Treatment: A Prospective Study

Aim of the Study: The aim of this study is to evaluate the efficacy and safety of levetiracetam (LEV) as first-line treatment of neonatal seizures. Materials and Methods: This study was conducted in patients of Neonatal Intensive Care Unit of Santo Bambino Hospital, University of Catania, Italy, from January to August 2016. A total of 16 neonates with convulsions not associated with major syndromes, which required anticonvulsant therapy, were included and underwent IV LEV at standard doses. Results: All patients responded to treatment, with a variety range of seizure resolution period (from 24 h to 15 days; mean hours: 96 ± 110.95). No patient required a second anticonvulsant therapy. Regar…

Colonizzazione da gram negativi multiresistenti produttori di ESBL in una UTIN”, I Congresso Nazionale SIMPIOS; Bergamo, 20-22 maggio 2004;

ADOLESCENTI CON SINDROME DI TURNER E MENARCA SPONTANEO: CORRELAZIONE CON CARIOTIPO, PARAMETRI ORMONALI E IMAGING PELVICA

EDEMA EMORRAGICO ACUTO DEL LATTANTE: DESCRIZIONE DI UN CASO

Adiponectin, resistin, leptin levels in paediatric patients with chronic renal insufficiency: relationships with clinical, auxological and endocrine profiles

Influenza vaccination: opinions of health care professionals working in pediatric emergency departments

Abstract Background Vaccine coverage of health care professionals against influenza is still low in Italy, as well as in other European countries. Methods Between March and May 2018, this study was performed to collect the opinions of Pediatric health care professionals, working in emergency departments, regarding the efficacy and safety of the influenza vaccine. An anonymous online survey was employed to evaluate socio-demographic and professional characteristics, knowledges, beliefs and attitudes. Results Five hundred four health care professionals completed the survey: 331 physicians, 140 nurses and 33 other health are professionals. During the 2017–18 season, 55.8% of physicians, 19.3% …

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…

Radiation risks knowledge in resident and fellow in paediatrics: a questionnaire survey

Background: Analyse through a multi-choice anonymous questionnaire the knowledge's level in paediatric residents and fellows in two different main Italian hospital, looking mainly to the information to patients and relatives related to risks of ionizing radiation used in common radiological investigations in children. Methods: 65 multi choice questionnaires were distributed to paediatric residents and fellows of two different hospitals, an University Hospital (A.O.U.P. "P. Giaccone"- University of Palermo) and a national reference centre for paediatrics (Ospedale Pediatrico Bambino Gesù - Rome). The questionnaire included twelve multiple-choice questions with the aim of analyzing the knowle…

Miositi dell'età pediatrica: Analisi di una casistica biennale.

Marker cromosomico soprannumerario: iso 18p

CASO CLINICO: CARCINOMA TIROIDEO ASSOCIATO A IPERTIROIDISMO IN ETÀ PEDIATRICA: UNA RARA ASSOCIAZIONE

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA R, 8 anni, sesso femminile. Nulla di rilevante all’anamnesi fisiologica e patologica remota. Bimba in sovrappeso (BMI 24,65 Kg/m2). Familiarità per neoplasia tiroidea (zia materna), tiroidite di Hashimoto e per neoplasie di altri organi. Un mese prima, tonsillite essudativa trattata con terapia antibiotica; simultaneamente comparsa di tumefazione laterocervicale dx non dolente; insorgenza di dolore e progressivo incremento del volume della tumefazione per veniva condotta in PS; all’EO: aspetto non sofferente, tumefazione laterocervicale di consistenza parenchimatosa dura, mobile nei piani sopra e sottostanti; linfoadenopatie multiple i…

Milk intolerance: a big trouble for little patients.

Il “late preterm”: un neonato pretermine attempato

Sindrome di S.A.P.H.O. e acne fulminans: storia di una rara associazione

Sindrome di Rett da ampia delezione del gene MeCP2

Riarrangiamento cromosomico subtelomerico Del 10Q25: descrizione di un caso con elevata espressività clinica.

Aspetti endocrini e profilo auxologico in bambini e adolescenti con fibrosi cistica

Additional file 1 of The pandemic within the pandemic: the surge of neuropsychological disorders in Italian children during the COVID-19 era

Additional file1: Table S1. Regional centers enrolled in the study, list of hospitals and departments involved in the study.

Serum Leptin Levels in young patients with beta-thalassemia major: personal records

I nati da procreazione assistita – Rischio perinatale

P609 New and old criteria for diagnosing celiac disease

Background CD is an immune-mediated systemic disease elicited by gluten and related prolamines, it affects genetically susceptible individuals and it is characterized by the presence of gluten-dependent clinical manifestations, CD-specific antibodies, HLA-DQ2 or HLA-DQ8 haplotypes and enteropathy. According to the guidelines published by ESPGHAN in 2012, it is possible to diagnose celiac disease without intestinal biopsy, in symptomatic children and adolescents with very high levels of transglutaminases type-2 antibodies and positive HLA DQ2/DQ8. Aims The aim of our study is to analyse two groups of patients: one in which diagnosis was based on the new ESPGHAN criteria, and another based on…

Prevention and contrast of child abuse and neglect in the practice of European paediatricians: a multi-national pilot study

AbstractBackgroundChild abuse and neglect, or maltreatment, is a serious public health problem, which may cause long-term effects on children’s health and wellbeing and expose them to further adulthood vulnerabilities. Studies on child maltreatment performed in Europe are scarce, and the number of participants enrolled relatively small. The aim of this multi-national European pilot study, was to evaluate the level of understanding and perception of the concepts of child abuse and neglect by European paediatricians working in different medical settings, and the attitude toward these forms of maltreatment in their practice.MethodsThe study was performed by a cross-sectional, descriptive, onli…

Influenza dell’accrescimento in utero sui livelli plasmatici di Leptina, IGF-1 e IGF-BP3

Il dosaggio del lattato in neonati con distensione addominale come fattore prognostico di sindrome da compartimento addominale

L'ipertensione intraaddominale (IAH) e la risultante sindrome da compartimento addominale (ACS), caratterizzata da incremento della pressione >20 mmHg e insufficienza d’organo o multiorgano, sono state descritte in neonati con patologie addominali chirurgiche. La gestione effettiva e preventiva dell'IAH è associata a minore morbidità. In uno studio retrospettivo abbiamo analizzato 20 neonati con distensione addominale persistente per individuare fattori predittivi di IAH ed ACS. Il Gold-Standard della misurazione dell'IAH è la misurazione pressoria intravescicale ancora non standardizzata c/o le UTIN. Per definire l'IAH abbiamo quindi utilizzato il monitoraggio della saturazione di ossigeno…

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

Rara aneuploidia cromosomica, trisomia parziale 14 (q24.3_ter) de novo

Green nail syndrome

DOUBLE BLIND PLACEBO CONTROLLED FOOD CHALLENGE USEFUL TO DISCONFIRM OVER ESTIMATED DIAGNOSIS OF CMPA IN CHILDREN

PROGETTO PILOTA PER LO SVOLGIMENTO DELL’ATTIVITA’ MOTORIA IN BAMBINI E ADOLESCENTI CON PREGRESSA NEOPLASIA

Mycoplasma Pneumoniae: analisi di una casistica annuale.

ANGIOEDEMA EREDITARIO DA DEFICIT DI C1-INIBITORE: IDENTIFICAZIONE GENETICA PRECOCE IN UN NUCLEO FAMILIARE

CONTROLLO GLICOMETABOLICO E ABITUDINI ALIMENTARI IN ADOLESCENTI CON DIABETE MELLITO TIPO 1

Background: Gli studi che hanno valutato le abitudini alimentari dei bambini e adolescenti con diabete, hanno riportato una percentuale di assunzione di carboidrati più bassa di quella minima raccomandata spesso associata ad un maggiore consumo di grassi e ad una ridotta assunzione di fibre . Alcuni studi che hanno valutato il rapporto tra composizione della dieta e controllo glicometabolico in soggetti con diabete tipo 1, hanno evidenziato che una dieta ricca di grassi e povera di fibre è associata ad un peggior controllo glicometabolico. Obiettivo: Valutare in adolescenti affetti da diabete mellito tipo 1, con diverso grado di controllo metabolico, la frequenza di consumo settimanale dei …

Circolazione di MRSA in età pediatrica in ambiente ospedaliero e in comunità

Introduzione. Negli ultimi anni si è assistito ad un generale incremento e ad una sempre più estesa diffusione, sia in ambito ospedaliero che comunitario, di microrganismi multiresistenti. In assenza ed in attesa di trattamenti farmacologici efficaci maggiore attenzione deve essere impiegata alla realizzazione di strategie di sorveglianza mirate. Il primo isolamento di un ceppo di Staphylococcus aureus meticillinoresistente (MRSA) risale al 1961 e fu seguito da una repentina diffusione negli ospedali di tutto il mondo. Ad oggi MRSA è riconosciuto come uno dei principali agenti responsabili delle infezioni nosocomiali e le percentuali di isolamento variano da Paese in Paese in maniera notevo…

CANDIDA SEPTIC THROMBOSIS OF THE LEFT ATRIUM IN TWINS: REPORT OF TWO CASES

Background: Preterms are often exposed to nosocomial infections in NICU. Candida infections are particularly common and can result in progressive organization of intracardiac thrombosis, usually in the right atrium. Design and population: GB (24.4 wg, 460 g, bigeminal pregnancy): he was affected by RDS, PDA, jaundice, anaemia and had been submitted to TPN with CVC, also because of anus imperforate. On the 50th day, haemoculture resulted positive for Candida parapsilosis and, by echocardiography, hyperecogen peduncolate formation in the appendix of left auricola. Despite antifungal therapy, exitus occurred. CM (32.4 wg, 1390 g, bigeminal pregnancy): on 2nd day, she was operated for “apple-pe…

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…

Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report of an Adolescent Girl

Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G&gt;C (E148Q), which is typical of…

Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age.

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0–14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive im…

Sindrome di Down da duplicazione della regione critica 21q22.2-q22.3

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associate…

Analysis of risk and prognostic factors in a population of pediatric patients hospitalized for acute malnutrition at the Chiulo hospital, Angola

Abstract Background Malnutrition is a multifactorial pathology in which genetic, epigenetic, cultural, environmental, socio-economic factors interact with each other. The impact that this disease has on the health of children worldwide is dramatic. Severe acute malnutrition in particular is a disease affecting nearly 20 million preschool children worldwide, most of them in Africa and South East Asia. Objectives This work aims to investigate potential prognostic factors in the clinical evolution of acute malnutrition and potential risk factors for the development of the disease. Methods Our study was carried out at the “Hospital da Missão Catolica do Chiulo”, in Angola, where the NGO Doctors…

Genetic analysis about the wellknown relationship between Alzheimer Demaentia outbreak and APP gene overexpression in Down young patients

DFGI: Dinamica osservazione di una casistica pediatrica

Ten-month follow-up of patients with covid-19 temporally related multi-system inflammatory syndrome in children: the experience of the children hospital of Palermo

Abstract Background In Sicily, the first wave of COVID-19 showed a low epidemic impact in paediatric population, while the second and the third waves had a higher impact on clinical presentation of COVID-19 in children and a significantly higher severe outcome in patients with multisystem inflammatory syndrome in children (MIS-C), with a frequent life-threatening progression. Methods We describe a cohort of 22 Sicilian children (11 M; 11 F; age: 1.4–14 years), presenting with clinical features compatible with MIS-C. Patients with negative swab had a history of recent personal or parental infection. Results The following diagnostic criteria were detected: fever (100%); cheilitis and/or phary…

Epidemiology of Toxoplasma and CMV serology and of GBS colonization in pregnancy and neonatal outcome in a Sicilian population

Background: Aim of our study is to analyze the immunological status in pregnancy for two main TORCH agents, Toxoplasma and Cytomegalovirus (CMV), and the results of group B streptococcus (GBS) screening, assessing the risk for congenital infection in a population from Palermo, Italy. Methods: We retrospectively analyzed the medical records of all inborn live newborns who were born in our division during 2012, gathering information about the mother, the pregnancy and neonatal hospitalization at birth. Whenever data were available, we categorized the serologic status of the mothers for Toxoplasma and CMV. We also considered the results of rectal and vaginal swabs for GBS. We compared the resu…

Potenziali Evocati Visivi precoci in tre soggetti con sindrome di Apert

Diagnosi precoce di disabilità intellettiva sindromica

delezione 17p11.2, Sindrome di Smith-Magenis, anomalie congenite multiple

L’ATTIVITA’ FISICA NEI BAMBINI CON PREGRESSA NEOPLASIA: PREVENZIONE DEL RISCHIO NEUROMUSCOLARE E MUSCOLO-SCHELETRICO

Ospedalizzazione da VRS: popolazione a rischio e curva epidemica in Sicilia

The "Invisible Children": Uncertain Future of Unaccompanied Minor Migrants in Europe.

Because of their particular helpless condition, the unaccompanied minor migrants are at serious risk to be further deprived of their rights, and to become de facto “invisible” to the authorities, to the public health services, and in general to the public opinion. Furthermore, when they arrive at a destination, or during their journey through Europe, many children often vanish. The full dimension of such phenomenon that further hits the unaccompanied minors along their European migration routes currently is unknown. However, the intense migration that has affected the south Mediterranean borders of the EU over the last 10 years has allowed the collection of sufficient data to raise the high…

Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study

Background: Twins, compared to singletons, have an increased risk of perinatal mortality and morbidity, due mainly to a higher prevalence of preterm birth and low birthweight. Intrauterine growth restriction (IUGR) is also common and can affect one or both fetuses. In some cases, however, one twin is much smaller than the other (growth discordance). Usually, high birthweight discordance is associated with increased perinatal morbidity. The aim of this study is to describe the epidemiological features of a population of twins at birth, with particular reference to the interpretation and clinical effects of birthweight discordance. Methods: We evaluated retrospectively the clinical features o…

Il Problema del nato morto in Italia

Colonizzazione da Gram negativi multiresistenti produttori di ESBL in una UTIN.

Adolescents with Chronic Endocrine Diseases:a Multidisciplinary Approach: the Experience of the Paediatric Clinic of Palermo

Kawasaki disease in Sicily: clinical description and markers of disease severity

Background: Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods: We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks,…

Peritonite meconiale in una rara associazione di atresia ileale apple-peel con difetto di parete addominale

L’atresia intestinale tipo III B (apple peel) e la gastroschisi sono entrambe malformazioni congenite che necessitano di correzione chirurgica precoce in epoca neonatale. La loro associazione è un evento molto raro. Presentiamo il caso di un neonato a termine con l’associazione di atresia ileale apple-peel parziale e piccolo difetto della parete addominale anteriore, complicate con perforazione intestinale in utero e conseguente peritonite meconiale. Abbiamo riscontrato un’atresia parziale delle anse intestinali, coninteressamento dell’ileo terminale e risparmio del digiuno e di buona parte dell’ileo prossimale, difetto della parete addominale di piccole dimensioni e con poche anse erniate,…

JUVENILE IDIOPATHIC ARTHRITIS AND FITNESS: A TEAMWORK

Introduction: Patients with Juvenile Idiopathic Arthritis (JIA) have limited fitness and reduced aerobic and anaerobic exercise capacity vs. healthy peers. Furthermore, low intensity exercise programs are safe in children with JIA and may improve fitness, joint excursion and quality of life, reduce pain, fatigue and the employ to antiinflammatory drugs. Objectives: The purpose of the study was to evaluate postural and balance deficits and fitness with specific test battery in children and adolescents affected by JIA. Methods: We enrolled 30 patients with JIA (13 M; 17 F; age: 8-18 years); among those, 7 were evaluated longitudinally in the period 2016-2018, comparing the tests in different …

MOESM1 of NF1 microdeletion syndrome: case report of two new patients

Additional file 1. Timelines of the clinical cases.

Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the d…

Seidlmayer’s purpura: five cases and review of the literature

Stipiti di Pseudomonas aeruginosa MBL produttori in Unità di Terapia Intensiva Neonatale (UTIN)

Le infezioni nosocomiali

Sindrome di Pfeiffer: identificazione di una nuova mutazione nel gene FGFR2.

Infarto cerebrale in nato a termine:esiti a 12 mesi

Ventilation, oxidative stress and risk of brain injury in preterm newborn

AbstractPreterm infants have an increased risk of cognitive and behavioral deficits and cerebral palsy compared to term born babies. Especially before 32 weeks of gestation, infants may require respiratory support, but at the same time, ventilation is known to induce oxidative stress, increasing the risk of brain injury. Ventilation may cause brain damage through two pathways: localized cerebral inflammatory response and hemodynamic instability. During ventilation, the most important causes of pro-inflammatory cytokine release are oxygen toxicity, barotrauma and volutrauma. The purpose of this review was to analyze the mechanism of ventilation-induced lung injury (VILI) and the relationship…

Anti-IL1 in patients with low penetrance mutations for autoinflammatory diseases: tuscany and sicilian case series from paediatric to adult age

Patients with low penetrance mutations for Autoinflammatory syndromes (AID) can have severe clinical manifestations, which require to be treated with biological drugs anti-IL-1. Objectives: To evaluate the response of AID to treatment with the recombinant human IL-1 receptor antagonist anakinra or with the anti-IL-1b.

Sindrome da duplicazione 1q21: variabile penetranza ed espressività clinica intrafamiliare di un riarrangimento genomico di circa 6 Mb non precedentemente descritto

Sindrome da duplicazione 1q21, riarrangimento genomico

The future outlook on allergen immunotherapy in children: 2018 and beyond

Abstract Allergen immunotherapy (AIT) is the only currently available immune-modifying and aetiological treatment for patients suffering from IgE-mediated diseases. In childhood, it represents a suitable therapeutic option to intervene during the early phases of respiratory allergic diseases such as rhino-conjunctivitis and asthma, which is when their progression may be more easily influenced. A growing body of evidence shows that oral immunotherapy represents a promising treatment option in children with persistent IgE- mediated food allergy. The efficacy of AIT is under investigation also in patients with extrinsic atopic dermatitis, currently with controversial results. Furthermore, AIT …

Leri-Weill’s syndrome: clinical, radiological and genetic investigations in five patients

SAT0513 Brainstem Auditory Evoked Potentials and Visual Potentials in Kawasaki Disease: Expression of CNS Vasculitis?

Background Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and children that is nowadays the most common cause of acquired heart disease in children. Transient sensorineural hearing loss (20 to 35 dB) is a possible complication of acute phase KD and may be related to salicylate toxicity in some patients. Objectives Brainstem Auditory Evoked Potentials (BAEPs) , and Visual Evoked Potentials (VEPs) were examined in 43 children (age: 0,8-7,5 years) affected by KD. No risk factors for hearing loss and/or neurological impairment of CNS were identified in all the patients. BAEPs showed altered waves II to V, in 18 patients (42%). Among these, in 4 patients (20%) VEPs showed …

Ketogenic diet for infants with epilepsy: A literature review.

Abstract The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0–23 months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0–23 months, and we considered only articles published between …

Improvement of treatment adherence with growth hormone by easypod™ device: experience of an Italian centre

Abstract Background One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correlation between r-hGH treatment efficacy and adherence in real-life setting using easypod™. Methods Forty patients younger than 18 years, affected by a clinical condition in which r-hGH is available and treated with r-hGH easypod™, were enrolled in a retrospective, observational, real-world data, monocentric trial. The study design provided the retrospective collection of records collected by a questionnaire proposed to the patients and their parents and compared with…

Autoimmune thyroiditis and phenilketonuria: a new association

Intellectual disabilitiy in developmental age

Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellec…

IRSUTISMO SEVERO IN SINDROME DI KABUKI: DESCRIZIONE DI UN CASO

Diabete insipido centrale da idrocefalo congenito in un neonato di genitori immigrati

Nosocomial colonization due to imipenem-resistant Pseudomonas aeruginosa epidemiologically linked to breast milk feeding in a neonatal intensive care unit.

Aim: We describe a one-year investigation of colonization by imipenemresistant, metallo-β-lactamase (MBL) producing Pseudomonas aeruginosa in a neonatal intensive care unit (NICU) of the University Hospital of Palermo, Italy. Methods: A prospective epidemiological investigation was conducted in the period 2003 January to 2004 January. Rectal swabs were collected twice a week from all neonates throughout their NICU stay. MBL production by imipenem-resistant strains of P aeruginosa was detected by phenotypic and molecular methods. Pulsed field gel electrophoresis (PFGE) was carried out on all isolates of P aeruginosa. The association between risk factors and colonization by imipenem-resistant…

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C &gt; T (rs 1…

Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.

A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…

Kawasaki disease triggered by parvovirus infection: an atypical case report of two siblings.

Abstract Background There are reports of the familial occurrence of Kawasaki disease but only a few reports described Kawasaki disease in siblings. However, the familial cases were not simultaneous. In these patients the idea of infective agents as trigger must be considered. Case presentation We describe two siblings with atypical presentations of Kawasaki disease; the sister was first diagnosed as having parvovirus infection with anemia and the brother was diagnosed as having myocarditis. The first patient was a 9-month-old Caucasian girl with fever, conjunctivitis, rash, and pharyngitis, and later she had cervical adenopathy, diarrhea and vomiting, leukocytosis, and anemia, which were ex…

OBESITA'. I FATTORI PRECOCI DI RISCHIO

GENITALI PICCOLI

p Natural polyphenols as anti-inflammatory agents p

Celiac Disease is a worldwide spread condition affecting 1:100-1:200 individuals. It is a permanent food intolerance to ingested gluten in genetically predisposed subjects. In this review we analyze the biochemical markers of the disease going from laboratory findings to histology passing through genetics. Gluten intolerance is a unique model of autoimmune disease in which we can recognize the main environmental factor (gluten) and the more complex genetic background. In additional way, serological markers for monitoring the disease and a safe and effective therapy (gluten free diet) are also available. In deed the environmental factor such as gluten intake is necessary to trigger the disea…

LA DIAGNOSI DI IPOTIROIDISMO CONGENITO AI TEMPI DELLA PANDEMIA DA SARS-CoV-2: L’ESPERIENZA DELLA CLINICA PEDIATRICA DI PALERMO

Obiettivi La pandemia da SARS-CoV-2 ha severamente compromesso i programmi di assistenza sanitaria, specie in casi in cui l’accesso alle cure ha richiesto tempi brevi, non programmabili. Lo screening neonatale per l’ipotiroidismo congenito (IC) rientra fra queste necessità assistenziali, con cooperazione fra componenti di un team multi-specialistico. E’ indispensabile l’integrazione fra medici e infermieri professionali, con competenze ed esperienza in ambito neonatologico. Metodi Abbiamo valutato l’attività integrata diagnostico-terapeutica del nostro centro di Endocrinologia Pediatrica, nel periodo gennaio 2020–aprile 2021, corrispondente alla diffusione del SARS-CoV-2 in Italia. Risultat…

Sindromi con macrosomia neonatale: esperienza clinica

Caratterizzazione citogenetica e clinica di un caso con der(22)(22qter- >22p11.2::16p11.2->16pter)mat

Deletion of NSD1 exon 14 in Sotos syndrome: first description.

Global (pharmacological and non pharmacological) prevention of RSV infection

Increased Exposure to Violence and Risk of Neurodevelopmental Disorders in Children

Exposure of children and adolescents to violence has significant short and long-term consequences in terms of academic, social, physical, and psychological functioning.1,2 The relationship of exposure to traumatic events, including various forms of violence, with depression, anger, anxiety, dissociation, posttraumatic stress, and total trauma symptoms has been widely debated.1-3 It is largely accepted that adverse early life experiences and abusive events suffered during childhood can cause profound effects on the development and function of the nervous system and increase the risk of neurodevelopmental disorders.4 Studies investigating the relationship between various types of neurodevelop…

SLIT's Prevention of the Allergic March.

PURPOSE OF REVIEW: The progression of atopic disorders from atopic dermatitis in infants to allergic rhinitis and asthma in children, adolescents, and adults defines the allergy march. Allergen immunotherapy is the only causal treatment altering the immunological mechanism underlying the allergic diseases. The sublingual administration route is more acceptable than the subcutaneous one in pediatric age. RECENT FINDINGS: Several studies show the efficacy and safety profile of sublingual immunotherapy (SLIT) for the treatment of respiratory allergy diseases, but few data are available on its effect of primary and secondary prevention of allergic disease. The purpose of this manuscript is to r…

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

Abstract Background Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation. Methods A retrospective study was carried out on newborns with prenatally diagnosed intrathoracic mass. Gathering for respiratory distress syndrome (RDS), 35 neonates were compared for clinical course, cardiovascular enzymes, ECG, and ultrasound. Results The analysis revealed a high left heart defect rate in patients with severe RDS, without being influenced by the laterality. Ultrasound or laboratory assessment did not detect altered cardiac dimension or cardiomyopathy. Solely ECG signs…

Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici

The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching the diagnosis and the therapy of ASD is discussed.

Gestione pre eperinatale della malformazione adenoido-cistica polmonare congenita

VALUTAZIONE CON EASYPODTM DELL’ADERENZA ALLA TERAPIA CON GH IN ETÀ PEDIATRICA E ADOLESCENZIALE: DATI DI UN CENTRO ITALIANO

OBIETTIVI L’aderenza condiziona l’effi cacia a medio e lungo termine della terapia con GH in pazienti in età evolutiva. Il nostro studio si prefi gge di monitorare la terapia con GH, utilizzando il dispositivo elettronico easypodTM e di analizzare correlazioni con effi cacia terapeutica e livelli di IGF-1. METODI Abbiamo condotto uno studio retrospettivo sui dati raccolti tramite easypodTM al fi ne di valutare l’aderenza alla terapia in percentuale di dosi somministrate. In 40 pazienti in età pediatrica affetti da: defi cit di GH, S. di Turner, S. di Prader-Willi, IRC, nati SGA, sono state valutate velocità di crescita in cm/anno e incremento della statura in DS durante il follow-up. RISULT…

RUOLO DELLA RMN NELLO STUDIO DELL’ASSETTO OVARICO ED UTERINO IN ADOLESCENTI CON S. DI TURNER

Maxima debetur puro reverentia

Methemoglobinemia Associated with Late-Onset Neonatal Sepsis: A Single-Center Experience

Objective Methemoglobinemia (MetHb) is a rare congenital or acquired cause of infantile cyanosis. We examined the role of MetHb in a neonatal intensive care unit (NICU). Study Design A retrospective observational study was conducted reviewing blood gas analyses of hospitalized newborns over a 2-year period. MetHb-positive patients (MetHb &gt;1.8%) were matched with a control group for gestational age, weight, disease, and illness severity at admission. Maternal, neonatal, clinical, and laboratory parameters were collected and analyzed in both groups. Results MetHb incidence was 6%. The mean MetHb in the case group was 7.2%, and the first positive samples were observed at a mean of 22 days …

Management of multiple pregnancy with an affected twin

Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prema- turity related diseases (respiratory, cardiovascular, infec- tious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal mor- bidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major …

SINDROME DA MICRODELEZIONE 17q21.31: DESCRIZIONE DI UN CASO CON ELEVATA ESPRESSIVITA' CLINICA

La sr da microdelezione 17q21.31(prevalenza 1:16.000)è un disordine genomico di recente identificazione.I segni clinici comprendono: ritardo mentale e di sviluppo, ipotonia, dismorfismi faciali, voce nasale, dita affusolate, cardiopatia, anomalie cerebrali, convulsioni, anomalie renali ed urogenitali, iperlassità articolare, ipoacusia trasmissiva, anomalie dentarie, deformità del piede e della colonna, strabismo e ipermetropia.La diagnosi è confermata dal riscontro,all’analisi molecolare,della delezione della regione critica, che si estende per 424 kb in 17q21.31 ed include almeno sei geni, tra cui MAPT, altamente espresso nell’encefalo e coinvolto in numerose patologie neurodegenerative. D…

Un problema tuttora aperto: update sulle infezioni respiratorie virali nei neonati a rischio.

EPATITE AUTOIMMUNE E COINFEZIONE DA HHV6: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA

Internet Addiction: Starting the Debate on Health and Well-Being of Children Overexposed to Digital Media.

Previous articles published in the European Paediatric Association (EPA) pages have discussed the importance of children's well-being and its role in different areas of children's health, such as well-child care and child-friendly health care. The goal of this commentary is to raise pediatricians' awareness on the risks of children's overexposure to digital media. It is important to protect the psychological and emotional health of children from uncontrolled external influences to preserve their well-being. We also emphasize the importance of alerting parents and tutors to the risks related to the unrefrained use of the Internet.

The care pathway for children with urticaria, angioedema, mastocytosis

Cutaneous involvement characterized by urticarial lesions with or without angioedema and itch is commonly observed in routine medical practice. The clinical approach may still remain complex in real life, because several diseases may display similar cutaneous manifestations. Urticaria is a common disease, characterized by the sudden appearance of wheals, with/without angioedema. The term Chronic Urticaria (CU) encompasses a group of conditions with different underlying causes and different mechanisms, but sharing the clinical picture of recurring wheals and/or angioedema for at least 6 weeks. Hereditary Angioedema (HAE) is a rare disorder characterized by recurrent episodes of non-pruritic,…

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and p…

Sindrome del 13q intervento comportamentale e relazionale

La dimissione del neonato “ a rischio”.

“Aneurisma del setto interatriale associato a flutter atriale ad esordio prenatale”.

New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis

To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …

The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome

Abstract Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mosaicism. However, it is not always predictable considering hormonal pattern and pelvic transabdominal ultrasound scan (US). The aim of the study is to compare the accuracy of Magnetic Resonance Imaging (MRI) and US to evaluate uterine and gonads volume, to visualize the presence of follicles and to predict spontaneous puberty and menarche in girls with TS. In a retrospective study, we evaluated 19 TS patients (age: 9–16 years), who underwent transabdominal pelvic US and pelvic…

Programmi di sorveglianza nosocomiale: esperienza di una UTIN; XXXV Congresso Regionale SIP, X Congresso Regionale SIN, III Congresso Regionale SIMEUP, Ragusa 16-18 novembre 2006.

Iperinsulinismo congenito da mutazione in omozigosi di INS-R: descrizione di un caso

A clinical review on megalencephaly

Abstract Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders …

Smoke exposure as a risk factor for asthma in childhood: A review of current evidence

Asthma is a common chronic multifactorial disease that affects >300 million people worldwide. Outdoor and indoor pollution exposure has been associated with respiratory health effects in adults and children. Smoking still represents a huge public health problem and millions of children suffer the detrimental effects of passive smoke exposure. This study was designed to review the current evidences on exposure to passive smoke as a risk factor for asthma onset in childhood. A review of the most recent studies on this topic was undertaken to provide evidence about the magnitude of the effect of passive smoking on the risk of incidence of asthma in children. The effects of passive smoking are …

SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.

POTENZIALI EVOCATI VISIVI (PEV) IN NEONATI DA GRAVIDANZA PLURIMA: RELAZIONE CON LA DISCORDANZA IN PESO (AGA VS SGA)

Premessa: I PEV consentono di valutare nel neonato lo sviluppo delle vie ottiche e del SNC. Un ritardo della maturazione morfologica del tracciato, una marcata riduzione di ampiezza, o un significativo aumento di latenza delle principali componenti è frequente in neonati con encefalopatia ipossico ischemica od emorragica, o affetti da patologia cerebrale sia congenita che secondaria a grave compromissione sistemica. Nelle gravidanze plurime è frequente il rilievo di una discordanza per il peso alla nascita (neonati AGA e SGA). Obiettivo: Valutare in un campione selezionato costituito da nati da gravidanza plurima, prevalentemente pretermine e con assenza di fattori di rischio perinatali per…

Effects of physical activity on postural balance in children with juvenile idiopathic arthritis: results from pilot study

Un caso di sindrome di Mauriac nel 2007

Compliance ed efficacia del Palivizumab a distanza. La nostra esperienza relativa al triennio 2002-2005.

Case-control study on intestinal intussusception: implications for anti-rotavirus vaccination.

Background: Intussusception represents the most common cause of abdominal emergency among young children but nearly 75% of cases are still considered idiopathic. Research design and methods: A case–control study was conducted among Sicilian children aged 0–59 months with a hospital admission for intussusception between 2009 and 2015 to identify factors associated with intussusception onset. Results: Overall, 125 cases and 190 controls were recruited for the study. Birth order (OR 1.49, 95%CI: 1.10, 2.02, P = 0.02) and having had gastroenteritis or having taken antibiotics during the 30 days prior to hospitalization (OR 11.55, 95%CI: 3.23, 41.23, P < 0.001; 3.09, 95%CI: 1.17, 8.12, P = 0.009…

Sportomics in professional soccer players: metabolomics results during preseason.

BACKGROUND Sportomics is the application of metabolomics to study the metabolism shifts of individuals that practice sports or do physical exercise. This aim was reached by the analysis of low molecular weight metabolites (<1.5 kDa) present in biological fluids such as blood, saliva or urine. METHODS In this study, authors performed a 1H-NMR analysis of urine from 21 professional soccer players collected at 3 different time points during the preseason preparation period before the beginning of Serie A Championship (first division) in Italy. RESULTS Urine profile changed during the observational period. In particular, significant variations were observed for trimethylamine-N-oxide, dimethyla…

GH TREATMENT ADHERENCE IN CHILDHOOD AND ADOLESCENCE IMPROVES USING EASYPODTM DEVICE: DATA DEMONSTRATION IN AN ITALIAN CENTRE

Objectives: Poor adherence to GH treatment is one of the pitfalls affecting the treatment efficacy. This study evaluates the GH treatment, using easypodTM in young patients over 6 months of therapy and describes the relationship between treatment efficacy and adherence. Methods: We collected the retrospective data registered in the electronic device easypodTM in 40 patients treated with GH. Number and doses of injection were used to calculate the percentage of treatment adherence. The inclusion criteria were: GH deficiency and the existence of one of the clinical condition in which GH is available: GHD, SGA, chronic renal failure, Turner syndrome. The GH efficacy was evaluated using the hei…

797 Infliximab in the Treatment of Pediatric Ibd: A Single Centre Experience

Background and aims: The biological treatment of IBD acts on different stages of immunophysiopathological processes of the disease. We describe evolution and clinical response to Infliximab in paediatric patients affected by IBD diagnosed and followed at our centre. Methods: In the last triennial period at our Department of Paediatrics in Palermo 53 infusions of Infliximab were administrated to our patients affected by severe forms of IBD. All patients but one were affected by several forms of CD. Only one child was affected by U.C. associated to pyoderma gangrenosum. The total number of infusions were administrated according the ACCENT 1 study at a dose of 5 mg/Kg. All the infusions were p…

Antimicrobial therapy in neonatal intensive care unit

Severe infections represent the main cause of neonatal mortality accounting for more than one million neonatal deaths worldwide every year. Antibiotics are the most commonly prescribed medications in neonatal intensive care units (NICUs) and in industrialized countries about 1% of neonates are exposed to antibiotic therapy. Sepsis has often nonspecific signs and symptoms and empiric antimicrobial therapy is promptly initiated in high risk of sepsis or symptomatic infants. However continued use of empiric broad-spectrum antibiotic treatment in the setting of negative cultures especially in preterm infants may not be harmless. The benefits of antibiotic therapy when indicated are clearly enor…

Adequate Training and Multidisciplinary Support May Assist Pediatricians in Properly Handling and Managing Gender Incongruence and Dysphoria.

What we call “sexual identity” refers to the complex relationship between biological sex, gender identity and role, and sexual orientation.1 “Gender identity” means the unified and persistent perception of oneself as belonging to the male or the female gender or ambivalent. For many, gender identity coincides with sexual identity; traditional culture has long provided for the definition of only 2 genders, corresponding to the 2 biological sexes. The person with gender incongruence experiences a disharmony between biological aspects and gender identity, with the constant awareness that he or she belongs to the opposite gender and is imprisoned in a body that does not represent him or her. Ge…

PROGETTO DI SMART WORKING DURANTE LA PANDEMIA DI COVID-19: SMART CO-WORKING PER LA RETE ASSISTENZIALE FRA PEDIATRI DI LIBERA SCELTA E UN CENTRO DI RIFERIMENTO IN SICILIA PER L’IPOTIROIDISMO CONGENITO

Obiettivi La pandemia di COVID-19 ha modificato le strategie assistenziali in modo radicale. Le necessità di distanziamento sociale hanno condizionato l’accesso alle cure ospedaliere, con il rischio che i pazienti cronici, più vulnerabili, venissero gestiti con inadeguata interazione con le famiglie e i pediatri di famiglia (PdF), con gravi ritardi diagnostici e terapeutici. Metodi Un questionario con 10 domande sulla gestione dei pazienti con ipotiroidismo congenito (IC) è stato inviato ai PdF della regione Sicilia (Palermo, Agrigento, Trapani, Enna, Caltanissetta, Siracusa). Risultati Hanno risposto 55 PdF che seguono da 2 a 3 pazienti con IC, con prevalenza più elevata in aree ad alta en…

TERAPIA CON SURFACTANTE PER VIA AEROSOLICA NELL’INALAZIONE DA BOROTALCO

THE EFFECTS OF PHYSICAL FITNESS ON CHILDREN WITH PREVIOUS NEOPLASIA

Introduction:There is a lack of data investigating the effects of physical activity (PA) on adolescent and young adultsurvivors of child- hoods’leukemia, moreover some authors suggest that children with diagnosis of leukemia (LK) are showing decreased level of fitness and a moderate risk for developing neuromuscular and musculoskeletal complications.We aim to verify if, in children involved in an individualized physical exercise program, the above-mentionedlow fitness level may be prevented or at least reduced. Subjects and methods:We assessed the level of physical fitness on children with diagnosis of leukemia during the post-chemotherapy period. We evaluated the fitness in 9 children (8.3…

Association of maternal hypertension and chorioamnionitis with preterm outcomes

OBJECTIVES: We compared the relative effect of hypertensive disorders of pregnancy and chorioamnionitis on adverse neonatal outcomes in very preterm neonates, and studied whether gestational age (GA) modulates these effects. METHODS: A cohort of neonates 23 to 30 weeks' GA, born in 2008 to 2011 in 82 hospitals adhering to the Italian Neonatal Network, was analyzed. Infants born from mothers who had hypertensive disorders (N = 2096) were compared with those born after chorioamnionitis (N = 1510). Statistical analysis employed logistic models, adjusting for GA, hospital, and potential confounders. RESULTS: Overall mortality was higher after hypertension than after chorioamnionitis (odds rati…

La neurofibromatosi 1 in età evolutiva: contributo casistico e revisione clinica

Il dolore da procedura in età neonatale

FOLLOW-UP AUXOLOGICO, METABOLICO ED ENDOCRINO IN PAZIENTI IN ETÀ EVOLUTIVA IN TRATTAMENTO CON ACIDO VALPROICO

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol

PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ-line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, end…

APPENDICITE ACUTA COME ESORDIO DI MALATTIA DI KAWASAKI: DESCRIZIONE DI UN CASO

CD 95 and TRAIL induced lymphocytes apoptosis in girls with precocious puberty.

Infliximab administration effective in the treatment of refractory Kawasaki Disease

Sindrome di Noonan: esperienza personale su ventuno pazienti

I nati da procreazione assistita – Rischio genetico e malformativo

Awarness of radiation protection issue in paediatric trainees. A questionnaire study.

TRATTAMENTO CON INFLIXIMAB IN UN LATTANTE CON MALATTIA DI KAWASAKI RESISTENTE ALLE TERAPIE CONVENZIONALI

HYPERINSULINEMIA AND INCREASED HOMA-IR IN PAEDIATRIC PATIENTS WITH MODERATE CHRONIC RENAL INSUFFICIENCY

Quando pensare ad una sindrome genetica in un adolescente

FOLLOW-UP DI SVILUPPO NEUROPSICOMOTORIO E CORRELAZIONI CON IL PONDERAL INDEX IN UN CAMPIONE DI NEONATI LATE PRETERM

late preterm, sviluppo neuropsicomotorio, ponderal index

MYCOPLASMA PNEUMONIAE INFECTIONS IN PAEDIATRIC AGE: CLINICAL VARIABILITY

Il sostegno multidisciplinare dell'adolescente con patologia reumatologica: progetto pilota della Clinica Pediatrica di Palermo

Media devices in pre-school children: the recommendations of the Italian pediatric society

Abstract Background Young children are too often exposed to mobile devices (MD) and most of them had their own device. The adverse effects of a early and prolonged exposure to digital technology on pre-school children has been described by several studies. Aim of the study is to analyze the consequences of MD exposure in pre-school children. Methods We analyzed the documented effects of media exposure on children’s mental and physical health. Results According to recent studies, MD may interfere with learning, children development, well being, sleep, sight, listening, caregiver-child relationship. Discussion Pediatricians should be aware of both the beneficial and side effects of MD and giv…

Management of chronic urticaria in children: a clinical guideline

Abstract The aim of this guidance is to provide recommendations to clinicians and other interested parties on chronic urticaria in children. The Italian Society for Pediatrics (SIP), the Italian Society for Allergy and Immunology (SIAIP), the Italian Society for Pediatric dermatology (SIDerP) convened a multidisciplinary panel that prepared clinical guidelines for diagnosis and management of chronic urticaria in childhood. Key questions on epidemiology, natural history, diagnosis, and management were developed. The literature was systematically searched and evaluated, recommendations were rated and algorithms for diagnosis and treatment were developed. The recommendations focus on identific…

Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and management of the acute phase

Abstract The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations. Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD. Guidelines, however, should…

17β-hydrossisteroid deydrogenase-3 deficiency (17 βHSD): clinical and endocrine features and molecular biology in two prepubertal patients

Hypocomplementemia in children with juvenile idiopatic arthritis treated with tocilizumab: personal records

The relieve of a reduction in complement levels was recently reported in adults with Rheumatoid Arthritis treated with tocilizumab (TCZ). However, there are no data in children with Juvenile Idiopathic Arthritis (JIA) treated with TCZ.

TERAPIA CON MECASERMINA IN UN BAMBINO CON IPERINSULINISMO CONGENITO DA MUTAZIONE DI INS-R

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA L’uso per fi ni terapeutici della Mecasermina, insulin-like growth factor 1 (IGF1) umano ricombinante trova indicazione nella terapia della bassa statura di bambini con un defi cit primitivo documentato di IGF-1. Il Leprecaunismo, noto come S. di Donohue, è una rara patologia congenita caratterizzata da insulino-resistenza, severo defi cit accrescitivo intra-uterino e post-natale, fenotipie caratteristiche, alterazione del controllo dell’assetto glicemico, con iperinsulinismo e iperandrogenismo associato. L’outcome prognostico è segnato da morte entro il primo anno di vita in quasi tutti i pazienti descritti. Descriviamo l’outcome di u…

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…

PANCREATITIS IN HENOCH-SCHONLEIN PURPURA. A SINGLE CENTRE OBSERVATIONAL STUDY

Introduction: Henoch-Schönlein purpura (HSP) is the most frequent vasculitis in children. Typically, it is characterized by palpable purpura, joints swelling, arthralgia, abdominal pain with possible intestinal bleeding. In more severe cases, the patients show acute abdomen. Acute pancreatitis is a rare dramatically evolutive, life-treating manifestation of SHS and it can be associated with a fulminant course. Persistent abdominal pain, need to be investigated by the dosage of serum pancreatic amylase, lipase and by abdominal MRI. In these patients, corticosteroid treatment is recommended and must be associated with parenteral feeding. Objectives: We analysed the full series of children wit…

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

PD48 - Relationship between Second Hand Smoke (SHS) exposure and atopy in social disadvantaged asthmatic children

The evidence of a relationship between second hand smoke (SHS) exposure and atopy is inadequate. Smoke habit prevalence is higher in lower parental educational levels. The aim of this study was to investigate the relationship between SHS and atopy in asthmatic children focusing on socioeconomic status (SES). We studied 170 outpatient asthmatic children with different levels of asthma (GINA guidelines). Medical history was taken in standardized way to determine prevalence of SHS exposure and maternal smoking during pregnancy. Information about the highest level of parental education was collected as a proxy of SES level. All patients underwent skin prick test (SPT) and spirometry according t…

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.

Patologia cromosomica rara:47,XXX / 48 XXXX.

LA RMN NEL FOLLOW UP DELLA FUNZIONALITA’ GONADICA NELLE ADOLESCENTI CON S. DI TURNER

What’s the name? Weight stigma and the battle against obesity

AbstractChildhood obesity has spread worldwide, it is on the rise, starts earlier and is more severe, despite all treatment attempts.According to recent studies, weight stigma is a factor that can hinder the success of therapies. Healthcare workers, mainly paediatricians, need to feel the urgency of anti-stigma training. The use of non-stigmatizing terminologies and images in various areas (school, sports clubs, healthcare, media, society in general) can improve disease management.

The Child Health Care System in Italy

Pediatric care in Italy has been based during the last 40 years on the increased awareness of the importance of meeting the psychosocial and developmental needs of children and of the role of families in promoting the health and well-being of their children. The pediatric health care system in Italy is part of the national health system. It is made up of 3 main levels of intervention: first access/primary care, secondary care/hospital care, and tertiary care based on specialty hospital care. This overview will also include a brief report on neonatal care, pediatric preventive health care, health service accreditation programs, and postgraduate training in pediatrics. The quality of the Ital…

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…

Il trattamento dei disturbi da comportamento dirompente in età evolutiva

Atresia delle vie biliari in situs viscerum inversus, destrocardia ed idronefrosi: descrizione di un caso

MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS

Introduction: Macrocephaly, defined as a head circumference more than two standard deviations from the normal distribution, is among the most frequently requested neuropediatric consultations. Materials: we conducted a retrospective study on 189 subjects with macrocephaly, from birth to 18 years old, enrolled from October 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has been performed in all infants and CT or MR in selected patients. Results: macrocephaly was prevalent in males (62.4%), a head circumference &gt;3SD (8.5%) has been associated with a neurodevelopmental impairment. A genetic and/or concomitant malformation were present…

Methicillin-resistant Staphylococcus aureus nasal colonization in a level III neonatal intensive care unit: Incidence and risk factors

Objective: To describe epidemiologic features and identify risk factors for methicillin-resistant Staphylococcus aureus (MRSA) acquisition in a level III neonatal intensive care unit (NICU). Setting: A prospective, cohort study in a university-affiliated NICU with an infection control program including weekly nasal cultures of all neonates. Methods: Demographic, clinical, and microbiologic data were prospectively collected between June 2009 and June 2013. Molecular characterization of MRSA isolates was done by multilocus variable number tandem repeat fingerprinting, staphylococcal cassette chromosome mec typing, and on representative isolates by multilocus sequence typing and s. pa typing. …

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Endocrine, auxological and clinical follow up of connatally HIV-infected children: personal experience

A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: <8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at…

Symptomatic seizures in preterm newborns: A review on clinical features and prognosis

Abstract Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements. Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial…

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

Abstract We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6…

IPOGONADISMO IPOGONADOTROPO IN SINDROME DI KABUKI: DESCRIZIONE DI DUE CASI IN ETA’ EVOLUTIVA

Prevalenza delle mutazioni in GJB2 nella popolazione siciliana affetta da sordità neuro-sensoriale non sindromica

Un caso di malattia di Kawasaki refrattaria

SPREAD OF A NEW MBL-PRODUCING STRAIN OF PSEUDOMONAS AERUGINOSA IN NICU DURING MICROBIOLGICAL SURVEILLANCE IN 2003

Duplicazione della regione critica per la sindrome di Down in un feto con cardiopatia

Osservazioni cliniche su due coppie di gemelli monozigotici discordanti per la presenza di anencefalia

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit b…

Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”

The incidence of multiple pregnancy has increased, particularly because of the advances in assisted reproductive technologies. Multiple gestations are high risk pregnancies, especially the monochorionic ones. Two/thirds of initially twin pregnancies result in singles at birth, a condition defined as vanishing twin syndrome. The intrauterine death of one of the twins can cause direct fetal damage to the surviving one on several levels. The paper describes the case of a child born from twin pregnancy that was interrupted for one of the co-twins at early second trimester of gestation who presented with aplasia cutis congenita.

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

Abstract Background Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. Methods Anamnestic, clinical, and imaging data of newborns …

Methicillin-resistant Staphylococcus aureus colonization: a three-year prospective study in a neonatal intensive care unit in Italy.

Background: Methicillin resistant Staphylococcus aureus (MRSA) is a major etiological agent of infection in neonatal intensive care units (NICUs). Routes of entry of this organism can be different and the transmission pathway complex. Colonized neonates are the main endogenous reservoir. Methods and Results: We conducted a prospective three-year study on MRSA colonization recruiting 722 neonates admitted between 2009 and 2012. Nasal swabs were cultured weekly and MRSA isolates were submitted to molecular typing. The annual incidence density of acquisition of MRSA ranged from a maximum of 20.2 cases for 1000 patient-days during the first year to a minimum of 8.8 cases in the second one to ra…

Lissencephalic syndromes: brain and beyond

Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new mol…

DYKE DAVIDOFF MASSON SYNDROME:PROFILO DI SVILUPPO NEURO-COGNITIVO A 4 ANNI IN UN PAZIENTE CON DIAGNOSI IN EPOCA NEONATALE

ipoplasia emisferica, DDMS, dilatazione ventricolare

Malattia di Kawasaki: un caso veramente "atipico"

Obesità nella sindrome di Down: analisi di 320 soggetti in età evolutiva

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli

Intolleranza al latte: nuovo algoritmo diagnostico.

Prospettive in Pediatria: innovazione nella tradizione. L'integrazione delle conoscenza tra neonatololgia e chirugia neonatale

La sindrome di Silver Russell: un caso da disomia uniparentale del cromosoma 7

UN EDEMA MOLTO SOSPETTO IN UN NEONATO IPOTONICO

ADOLESCENTE CON DATTILITE DELLE MANI DA INFEZIONE DA HELICOBACTER PYLORI

ASPETTI PATOFISIOLOGICI DEL VIRUS RESPIRATORIO SNCIZIALE

Enhanced 17hydroxyprogesterone levels in children with multiple sclerosis receving glatiramer

Additional file 1 of Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

Additional file 1: S1. AHC diagnostic and laboratory test. Routine laboratory examination, plasma amino acids, urine organic acids, blood lactate, pyruvate, urea, ammonia, thyroid functions, arterial blood gases (ABG), EEG, Video-EEG, MRI and MRI angiography are effective to exclude metabolic disorders and vascular diseases having the same pattern of features such as homocystinuria, organic acidurias (glutaric aciduria), urea cycle disorders (ornithine transcarbamylase deficiency, carbamoyl phosphate synthetase I deficiency, and citrullinemia) and Moyamoya disease. Diagnostic check-up may also include analysis of pterins, 5-methyltetrahydrofolate (5-MTHF) and monoamine metabolites in the ce…

Empirical validation of the "Pediatric asthma Hospitalization rate" indicator

Background: Quality assessment in pediatric care has recently gained momentum. Although many of the approaches to indicator development are similar regardless of the population of interest, few nationwide sets of indicators specifically designed for assessment of primary care of children exist. We performed an empirical analysis of the validity of "Pediatric Asthma Hospitalization Rate" indicator under the assumption that lower admission rates are associated with better performance of primary health care. Methods: The validity of "Pediatric Asthma Hospitalization Rate" indicator proposed by the Agency for Healthcare Research and Quality in the Italian context was investigated with a focus o…

Murdered women’s children: A social emergency and gloomy reality

Femicide, defined as the killing of females by males because they are females, is be-coming recognized worldwide as an im-portant ongoing manifestation of gender inequality. Actual or imminent separation, abuser’s access to firearms, prior threats with a weapon, prior threats to kill the victim, a stepchild in the household, prob-lematic alcohol and illicit drug use, as well as mental health problems, are associated with a substantially higher risk of femi-cide. Little is known about the number of orphaned children who have instantane-ously lost both parents. Sparse attention has been focused on children whose moth-er was murdered: these are difficult cases for child psychiatry teams. Decis…

Variazioni delle frequenze degli alleli di ApoE in soggetti anziani ed in pazienti affetti da sindrome di Down.

The multicenter Italian birth cohort study on incidence and determinants of lower respiratory tract infection hospitalization in infants at 33 weeks of gestation or more: preliminary results.

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …

Sindrome CDG tipo I: un caso ad elevata espressività clinica

Coronary Artery Fistula in Down Syndrome: A Hidden Association

PA1 INFLIXIMAB AND TOPICAL TACROLIMUS ADMINISTRATION EFFECTIVE IN THE TREATMENT OF PYODERMA GANGRENOSUM

Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins

Intestinal atresia in both twins from the same pregnancy is very rare. Only seven pairs of twins have been described. The authors report on two cases of monozygotic twins with different types of intestinal atresia and clinical evolution. Both pairs of observed twins turned out to be concordant for the presence of intestinal malformations and for the absence of other linked malformations; nevertheless, the atresic lesions were anatomically discordant in each pair of monozygotic twins. Therefore, the diagnostic and therapeutic procedures have shown some differences in phenotypic expression between the twins of both pairs. Possible etiologic factors and pathogenetic pathways are discussed, and…

Displasia multicistica monolaterale in due neonati esposti in utero a farmaci antiepilettici

Il neonato in "cammino". Dalla Nipiologia e dalla Puericultura alla Neonatologia e alla Terapia Intensiva Neonatale

Esordio precoce di febbre mediterranea familiare in paziente con triplice mutazione

Sonographic monitoring of pelvic organs during pubertal maturation in girls treated for childhood acute leukemia

Abstract Study Objective: To describe pubertal maturation of pelvic organs in long-term female survivors of acute childhood leukemia. Design: A case-control study comparing the uterine and ovarian biometry and the ovarian ultrasonographic patterns. Data were ordered according to age and Tanner staging. Setting: Department of Pediatrics, University of Palermo, Italy. Participants: Department of Obstetrics and Gynecology, Department of Pediatrics, University of Palermo, Italy. Subjects: 11 long-term pubertal female survivors of acute childhood leukemia. 53 healthy pubertal schoolgirls as control group. Interventions: Assessment of pubertal development by Tanner staging and by recording age at…

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.

Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…

Infliximab administration effective in the treatment of refractory Kawasaki Disease

Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery

Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population.

Sindrome di Cornelia de Lange con deficit parziale di 21-Idrossilasi: segnalazione di una possibile associazione

Effetti a breve termine del Diabate Mellito Materno sulla maturazione ossea

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dys…

Epidemiology of enuresis: a large number of children at risk of low regard

Abstract Aim To describe the epidemiological aspects of nocturnal enuresis (NE). In this study we identify the prevalence and the familial conditions in a large, representative sample of children with monosymptomatic NE (MNE) and nonmonosyptomatic NE (NMNE). Material and methods In this descriptive-analytic study the Italian Society of Pediatrics (SIP) promoted a prevalence study of NE using a questionnaire involved 320 primary care Pediatricians from Northern, Central and Southern Italy, from January 2019 to July 2019, with a total of 130,000 children analyzed by questionnaire related to epidemiology and type of NE, familiarity, quality of sleep, eating and drinking habits, pharmacological…

Arteria ombelicale unica (AOU): un marker di anomalie congenite

Epidemiologia della sordità geneticamente trasmessa nella popolazione siciliana

IPOTIROIDISMO IN SINDROME DI CRIGLER-NAJJAR DI TIPO 2 ED ETEROZIGOSI PER SINDROME DI GILBERT: QUANDO L’ITTERO NON PUO’ REGREDIRE

Growth patterns and associated risk factors of congenital malformations in twins.

AbstractBackgroundThe rate of twinning continues to increase due to the combined effect of a rise in parental age and increased use of assisted reproductive technology. The risk of congenital anomalies in twins is higher than in singletons, but it is less well reported in relation to growth patterns. We focused to the auxological outcome of twin pregnancies when one or both of twins are affected by one or more malformations.MethodsWe conducted a retrospective observational study reviewing the clinical charts of twins admitted in the period between January 2003 and December 2018 at the University Hospital of Palermo. The associations between malformations and anthropometric variables at birt…

Genetics and"democracy".

Abstract Background The spread of knowledge on the important implications of a diagnosis of genetic disease does not correspond to a sharing of the knowledge and equal rights of children. Main body It is estimated that about 5% of newborns may have a rare disease that in some cases, if diagnosed early, could have specific treatments that may be able to modify the natural history of the disease. However, in most countries the diagnosis during the first hours of life is limited to a few diseases, due to the high costs and time required for genetic investigations with classical methods. Recently, experimental projects to subject all newborns to a complete DNA analysis, with Next Generation Seq…

Local Complications And Adverse Drug Reactions In Paediatric Inflammatory Bowel Disease

Epileptic seizures as a manifestation of cow's milk allergy: a studied relationship and description of our pediatric experience

Adverse reactions after ingestion of cow's milk proteins can occur at any age, from birth and even amongst exclusively breast-fed infants, although not all of these are hypersensitivity reactions. The most common presentations related to cow's milk protein allergy are skin reactions, failure to thrive, anaphylaxis as well as gastrointestinal and respiratory disorders. In addition, several cases of cow's milk protein allergy in the literature have documented neurological involvement, manifesting with convulsive seizures in children. This may be due to CNS spread of a peripheral inflammatory response. Furthermore, there is evidence that pro-inflammatory cytokines are responsible for disruptin…

Malattia polmonare cronica nei neonati VLBW: studio di una casistica 2005-2007

VRS: Applicazione di uno "score di rischio" italiano su data base nazionali.

The Hikikomori Phenomenon of Social Withdrawal: An Emerging Condition Involving Youth's Mental Health and Social Participation.

The objective of this editorial is to raise awareness on the burden and risks faced by adolescents developing this emerging form of social withdrawal. The hikikomori phenomenon is part of the group of new morbidities causing children and adolescents to limit their activity owing to a chronic health condition with attendant psychological problems. We further emphasize the importance of including new morbidities involving mental health and social participation in formal pediatric training, to enable new generations of pediatricians to identify and properly manage these disorders.

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…

CUTANEOUS MANIFESTATIONS IN PEDIATRIC COELIAC DISEASE

Diastematomelia:descrizione di un caso con quadro clinico peculiare

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study

Objective: Metabolic alterations of intrauterine environment in diabetes mellitus (DM) lead to fetal cardiac dysfunctions that can persist after birth. The aim of the study was to assess the cardiovascular adaptation in infants born to diabetic mothers (IDM) with different degrees of glycometabolic control, in relation to revised guidelines for diagnosis of DM and quality improvements in neonatal care. Materials and methods: An observational case-control study was conducted on IDM with gestational, type 1 and type 2 DM. Relevant maternal and neonatal anamnestic, clinical and laboratory data were analyzed. Electrocardiographic and echocardiographic analyses, including structural and systo-…

Standard and Specialized Infant Formulas in Europe: Making, Marketing, and Health Outcomes

Infant formulas are the only suitable substitute for human milk. The most common infant formulas are standard formulas based on cow's milk. In addition, there are formulas for infants showing signs and symptoms of intolerance and for clinical conditions such as allergy, prematurity, and gastrointestinal diseases. A comprehensive review of the literature was made to review the composition of standard and specialized infant formulas and analyze indications for use, real or presumed nutrition differences and properties, and impact on infant growth. A brief consideration on costs is outlined for each formula. Over the past few years, industrial production and advertising of infant formulas have…

Idiopathic Seidlmayer's Purpura: A Case Report

Acute hemorrhagic edema of infancy (AHEI) was considered a rare form of Henoch-Schönlein purpura; however, it is now regarded as an independent disease typically involving patients aged 4-24 months. The authors describe the clinical case of a toddler aged 8 months, with skin erythematous pomphoid&lt;b&gt; &lt;/b&gt;lesions, treated at home with topical steroids without benefits. The appearance of new lesions and the worsening of the previous skin signs induced the parents to drive the child to the hospital. The medical history revealed the administration of a vaccine dose 2 months before.

Dall'aderenza all'efficacia della terapia con GH: monitoraggio con device elettronico

Allattamento al seno: indagine conoscitiva SIP Sicilia. Risultati e commenti

Per riflettere su alcuni aspetti di bioetica intorno alla rianimazione neonatale.

Health of immigrant children: Congenital disease

Obiettivi comuni per la pediatria

PO-0994 Ltri In Paediatrics: Analysis Of An Annual Survey

Background and aims Lower tract respiratory infections (LTRI) are very frequent in paediatric population. We collected epidemiological, etiological and clinical data and correlated them to some variables. Methods We performed an observational study of all children with a LTRI, admitted to our Paediatric Unit from February 2013 to January 2014. The population was grouped in three classes of ages (0–2yr, 3–6yr, >6yr). All patients underwent to a questionnaire focused on exposition to protective and risk factors for respiratory diseases. Results 83 children were included. We grouped them according to discharge diagnosis and analysed the distribution for ages, sex and season of onset. At the ad…

Rare sex chromosome aneuploidies in humans: Report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes

Utilità del test di provocazione orale in doppio cieco nell'esclusione della diagnosi di APLV

Dolore da disturbi psichici nei bambini

Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63

An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ears, hypoplasia of the distal phalange of left index, widely spaced nipples and polythelia. The hallmarks of ankyloblepharon-ectodermal dysplasia-clefting syndrome (or Hay-Wells syndrome) as well as persistent scalp erosions led to exclude more frequent skin disorders like congenital ichthyosiform erythroderma or epidermolysis bullosa and to diagnose Hay-Wells syndrome by genetic analysis. Target sequencing of the tumour protein p63 (TP63) gene r…

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery

Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…

Precise reply and clarifications on behalf of Sicilian Public Health Authorities to the case report published by La Rosa and collegues

The intussusception is one of the most frequent causes of occlusive syndrome in infants and in children.1 The mesenteric lymphadenopathy, wich is very rare post rotavirus vaccination, can cause intussusception,2-5 especially in genetically predisposed individuals.6 There is an association between intussusception and some classes of genotype.7-9 Two infants aged 3 months, vaccinated against rotavirus. After about a week, one of the 2 identical infants presented inconsolable crying, vomiting, loose stools mixed with blood, and was diagnosed with bowel obstruction with intussusception. He was operated in urgency. After a few hours, his brother presented vomiting, and was admitted to our Hospit…

Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the mea…

Nutrizione del neonato pretermine: attualità e prospettive

Scurvy as an alarm bell of autistic spectrum disorder in the first world: A case report of a 3-year-old girl

Patient: Female, 3-year-old Final Diagnosis: Scurvy and autistic spectrum disorder Symptoms: Bleeding gums • pain • petechia Medication: — Clinical Procedure: Haematochemical blood examinations • radiographic study Specialty: Endocrinology and Metabolic Objective: Rare disease Background: Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. Case Report: A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ra…

Follow-Up to Ensure Continuity of Care and Support Preventive Care

Over the last decades, the prevalence of chronic health conditions and disabilities among children rose steadily, thanks to medical advances in both treating the primary condition and managing its complications. The improved long-term survival rates led to persistently high rates of pediatric chronic health conditions, which are often burdened with limitation in daily activity and dependence on medication, special diets, medical technology, assistive devices, and specialized staff. Therefore, children with complex chronic conditions are a frail population who generally need healthcare services beyond what is usual for healthy children. Indeed, their health issues often require specialized a…

An Appeal for Implementing Social Assistance and Welfare Programs for European Children Challenged by Parental Loss

The authors of this commentary, many of whom are part of a working group on social pediatrics supported by some of the European national pediatric societies member of EPA-UNEPSA, conclude that more studies are needed to cross the boundaries between disciplines, for example, looking at the inter-relationship of family life and child health and how parental loss is affecting the micro and macro level of child healthcare service systems. Therefore, this article aims to alert pediatricians to the impact of parental loss on child health and wellbeing. It emphasizes the importance of implementing preventive and social support programs for achieving health promotion and health-protective effects.

Effetti dell'attività fisica in pazienti in età evolutiva con AIG e deficit posturali e di equilibrio: uno studio pilota

Amido di mais nel management della dumping syndrome: una lezione maturata dalla malattia di Von Gierke.

Sindrome di Smith Magenis da delezione 17 q 11.2: descrizione di un caso ad elevata espressività clinica

IL DOLORE NELLE EMOPATIE INFANTILI

Fish Odour Sindrome e deficit di GH: descrizione di una insolita associazione

Effects of physical activity on postural balance in children with juvenile idiopathic arthritis: results from a pilot study

Background: The juvenile idiopathic arthritis (JIA) is the main rheumatic disease in pediatric age. The rheumatic diseases are main causes of physical disability and have high economic costs for society. The aim of this study was to evaluate if the physical activity can prevent the decline in balance related diseases in children with previous diagnosis of JIA. Materials and Methods: Fifty-six subjects were enrolled in this study. Thirty-nine healthy subjects were included in the control group (CG) and seventeen in juvenile idiopathic arthritis group (JIAG). Subsequently, the JIAG was stratified in two ones, respectively: JIAG active (JIAG-ACT) and JIAG sedentary (JIAG-SED). The analysis was…

Bmi and Auxological Follow Up in Children with Hashimoto Thyroiditis: Utility of a Phisical Activity Program

Complicanze endocrine nella talassemia: studio di 256 pazienti

FMF is not always "fever": from clinical presentation to "treat to target".

AbstractFamilial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease.Symptoms frequently start before 20 years of age and are characterized by a more severe phenotype in patients who begin earlier.Attacks consist of …

Atresie del canale digerente nel neonato: esperienza di 4 anni

PREVENTION OF NOSOCOMIAL INFECTIONS AND SURVEILLANCE OF EMERGING RESISTANCES IN A NEONATAL INTENSIVE CARE UNIT (NICU): A SIX-YEAR PROSPECTIVE COHORT STUDY

NOSOCOMIAL INFECTIONS, EMERGING RESISTANCES SURVEILLANCE, NICU

EFFETTI AVVERSI NEI PAZIENTI IN TERAPIA CON GH IN UN CENTRO PEDIATRICO: DATI REAL LIFE

OBIETTIVI Abbiamo analizzato la nostra casistica di pazienti in trattamento con GH: 145 pz (86M; 59F), età : 4-17 anni, al fine di valutare efficacia della terapia, eventuali eventi avversi, endocrinopatie insorte dopo l’inizio della terapia (tiroidite autoimmune; insufficienza surrenalica, etc) e/o iperglicemia o franco DM. METODI La casistica esaminata comprende: 6 pz con SHOX-D; 28 pz SGA; 5 con S. di Turner; 4 in terapia con GH per indicazioni diverse, previste dalla nota 39 (IRC, S. di Prader Willi). RISULTATI 3 pz (2 pz con S. di Turner; 1 pz con GHD) hanno manifestato, durante la terapia, tiroidite autoimmune e sono in terapia con L-tiroxina. 1 pz ha una diagnosi di iperinsulinismo c…

Non sempre la MICI viaggia da sola.

RACHITISMO VITAMINA-D RESISTENTE DA MUTAZIONE DEL RECETTORE DELLA VITAMINA D: VARIABILITÀ FENOTIPICA IN DUE SORELLE

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA Il rachitismo vitamina-D resistente (HVDRR), è una patologia a trasmissione autosomica recessiva dovuta a mutazione del gene del recettore per la vitamina D (VDR). L’esordio del rachitismo è precoce e si può associare alopecia. Descriviamo il caso di due sorelle con HVDRR, la loro presentazione clinica e la risposta alla terapia. La primogenita in atto ha 4 anni di età, una ipocalcemia severa e resistente, con scarsa risposta al calcio per via orale somministrato ad alte dosi, ha avuto necessità -nel primo anno di vita- di somministrazione endovenosa di calcio per diversi mesi. La diagnosi è stata posta per l’insorgenza, in assenza di …

Encefalopatia neonatale e disfunzione multiorgano, considerazioni eziologiche e correlati clinici. Valutazione di una casistica

encefalopatia neonatale, disfunzione multiorgano

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery

Abstract This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. Many studies have informed on epidemiologic observations. Promising outcomes in prevention, diagnosis and treatment have been reported. We think that advances realized in 2018 can now be utilized to ameliorate patient care.

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of thePediatric Clinic of Palermo

Una gonartrite postinfettiva: tre virus....un'articolazione

Le adolescenti con coagulopatie congenite: dalla terapia con estroprogestinici al follow-up endocrino.

Osteogenesi imperfetta e deficit di GH: descrizione di una rara associazione.

The awareness and acceptance of anti-COVID 19 vaccination in adolescence

Abstract Background COVID-19 had devastating effects on children’s and adolescents’ life, including neuropsychological impairment, discontinuation of social life and education. Since June 2021, antiCOVID19 vaccination has become available to adolescents in Italy up to 12 years and since December 2021 to children aged more than 5 years. The pediatric population represents a challenging target for vaccination. Aim of the study is to perform a survey among adolescents to explore factors associated with COVID 19 immunization and their perceptions about COVID-19 vaccines. Methods Italian students aged 10–17 years were invited to participate in an anonymous online survey regarding their immunizat…

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these patients are signed by a high precocious lethality into the first 1-2 years of life. Anecdotical cases are described with a longer survival. We describe the clinical case of a child with Leprechaunism, born from consan…

Il follow-up della sindrome di Down oggi: un modello esportabile.

SINDROME DI APERT, SVILUPPO NEUROPSICOMOTORIO E FUNZIONE VISIVA: FATTORI DI RISCHIO PROGNOSTICO IN TRE PAZIENTI

Premessa: La sindrome di Apert, è causata da mutazione (Pro253Arg e Ser253Trp) a livello dell’esone 8 del gene FGFR2 (10q26). Tra i fattori di rischio in termini di prognosi evolutiva si annoverano il tipo di mutazione (1), la presenza di anomalie dello sviluppo cerebrale, la prematurità, la sofferenza cerebrale perinatale, lo stato di ossigenazione, la strategia e i tempi di intervento neurochirurgico e correttivo. Obiettivi: Valutare in soggetti con S. di Apert la correlazione tra fattori di rischio e lo sviluppo neuropsicomotorio e neurosensoriale visivo. Metodologia:Tre soggetti con diversa combinazione dei fattori di rischio, sono stati valutati con potenziali evocati visivi da flash (…

Trappole nella diagnosi di APLV in età pediatrica.

DIABETE INSIPIDO E PANIPOPITUITARISMO IN IDROCEFALO CONGENITO: DESCRIZIONE DI UN CASO

DOUBLE BLIND PLACEBO CONTROLLED FOOD CHALLENGE USEFUL TO DISCONFIRM OVER ESTIMATED DIAGNOSIS OF CMPA IN CHILDREN

VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance

Evaluation of Fitness and the Balance Levels of Children with a Diagnosis of Juvenile Idiopathic Arthritis: A Pilot Study

Background: Juvenile idiopathic arthritis is a main cause of physical disability and has high economic costs for society. The purpose of this study was to assess the fitness levels and the postural and balance deficits with a specific test battery. Methods: Fifty-six subjects were enrolled in this study. Thirty-nine healthy subjects were included in the control group and seventeen in the juvenile idiopathic arthritis group. All subjects were evaluated using a posturography system. The fitness level was evaluated with a battery of tests (Abalakov test, sit-up test, hand grip test, backsaver sit and reach, the toe touch test). An unpaired t-test was used to determine differences. Pearson’s co…

Epidemic spread of ST1-MRSA-IVa in a neonatal intensive care unit, Italy

Abstract Background Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has recently emerged as an important pathogen in neonatal intensive care units (NICUs). The purposes of this study were to characterize methicillin-resistant isolates from an outbreak in a NICU, to examine the genetic traits and clonality of CA-MRSA, and to review the characteristics and outcomes of the neonatal cases and investigate the routes of entry and transmission of the MRSA outbreak strain in the NICU under study. Methods The study NICU practiced an active surveillance program for multidrug-resistant organisms, including weekly cultures for detection of MRSA from nasal swabs among all the …

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal…

New diagnostic criteria of acute rheumatic fever: prevalence of silent carditis in a pediatric population

Acute rheumatic fever and its sequel, chronic rheumatic heart disease, are important global health issues with an annual incidence of about 500.000 new cases and a prevalence of 34 million people worldwide affected by rheumatic heart disease. During the 20th century the incidence of ARF and the prevalence declined substantially in Europe, North America, and developed nations in other geographic locations. In Italy the incidence is about 4,1:100.000. Acute rheumatic fever is a systemic inflammatory response to group A streptococcal infection, which typically affects children and occurs two or three weeks after a throat infection. Although arthritis is the most common sign, carditis which com…

Microvillous Inclusion Disease in a newborn with positive family history of intractable diarrhoea

Epidemiology of severe RSV infection in Palermo, a sicilian pediatric population: identifying risk factors, epidemic wave and severity

MALATTIA DI KAWASAKI ED INFEZIONE DA EBV IN PAZIENTE CON TRIPLICE MUTAZIONE DEL GENE DELLA FEBBRE MEDITERRANEA FAMILIARE

Congenital Malformations and Syndromes: Early Diagnosis and Prognosis

Congenital malformations are defects of the morphogenesis of organs or body regions identified during intrauterine development or at birth. They may be isolated and single, or multiple. Their global birth prevalence is about 2–3%. Congenital defects may be caused by genetic and/or environmental factors, acting singly or in combination. Diagnostic and therapeutic tools have allowed better identification of congenital malformations and have reduced long-term morbidity and mortality in affected patients. Because of increased life expectancy, congenital malformations today represent a major issue in health care because of the resources needed for multidisciplinary care.

Twins among history, mith and arts

Functional gastrointestinal disorders: Dynamic observation of pediatric cases

Introduction: Functional gastrointestinal disorders (FGID) are a variable set of clinical cases characterized by recurrent/chronic symptoms not associated with an organic pathology. These disorders are classified using the Rome III criteria. Objective: The study wanted to evaluate the prevalence by gender and age of FGIDs in a pediatric population recruited on the basis of recurrent/chronic abdominal pain, and to follow up patients for six months by administering questionnaires aimed at verifying any changes in symptoms. We also evaluated the possible involvement of factors responsible for these changes. Results: 62 patients between 4 and 17 years of age (27 males and 35 females) were inclu…

Follow up auxologico, BMI ed assetto endocrino in bambini con ipotiroidismo congenito: esperienza della clinica pediatrica di Palermo

Nuovi percorsi e modalità assistenziali nel follow up di pazienti con deficit di GH in trattamento sostitutivo durante la pandemia da Sars Cov2

INTRODUZIONE: La pandemia da Sars Cov 2 ha generato nuovi scenari nella gestione assistenziale di pazienti con patologie croniche, in particolare nei pazienti con endocrinopatie, che richiedono un costante e periodico follow-up anche in relazione alla necessità dell’adeguamento terapeutico. La qualità della vita dei bambini e degli adolescenti è stata qualitativamente segnata dai periodi di lockdown, dalla didattica a distanza (DAD), dall’impossibilità parziale o totale di praticare attività fisica, dalla difficoltà di accesso alle reti ospedaliere e territoriali con esecuzione periodica di misure di screening (tamponi orofaringei). Queste problematiche hanno coinvolto anche i bambini, affe…

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

Acute bronchiolitis is the leading cause of lower respiratory t ract infection and hospitalization in children less than 1y ear of age worldwide. It is usually a mild disease, but some children may develop severe symptoms, requiring hospital admission and ventilatory support in the ICU. Infants with pre-existing risk factors (prematurity, bronchopulmonary dysplasia, congenital heart diseases and immunodeficiency) may be predisposed to a severe form of the disease. Clinical diagnosis of bronchiolitis is manly based on medical history and physical examination (rhinorrhea, cough, crackles, wheezing and signs of respiratory distress). Etiological diagnosis, with antigen or genome detection to i…

VRS ed asma: l'ipotesi immunogenica

Un caso di pericardite recidivante colchicina-resistente

La pericardite è una patologia infiammatoria del pericardio che si manifesta con dolore toracico e che spesso, ma non sempre, si associa a versamento pericardico. Rappresenta circa il 5% degli accessi in Pronto Soccorso (PS) per dolore toracico (di cui è la principale causa in età pediatrica). Le pericarditi si classificano a seconda della durata della sintomatologia o in base all’agente eziologico. A seconda della durata della sintomatologia si distinguono: forme acute, forme ricorrenti, quando si assiste a una ricomparsa dei sintomi dopo un periodo libero di almeno 6 settimane, e forme persistenti, quando i sintomi perdurano oltre le 6 settimane o quando si verifica una ricaduta del quadr…

Il bambino non è un adulto in miniatura

Epidemiologia dell'infezione da VRS a Palermo: 2 anni di esperienza

Effects of Coronavirus Disease 2019 (COVID-19) on Family Functioning

More than a year and a half after the first clinical manifestations of coronavirus disease 2019 (COVID-19) were reported in Wuhan, China,1 , 2 the magnitude of the pandemic across the globe and its related clinical and social effects3 remain unclear.4 The pandemic has affected lives and sparked concerns about everything from health to job security. In high–Gross Domestic Product (GDP) countries, despite trillions in coronavirus aid released by governments, many families still struggle to pay for basic necessities like food and rent, and these difficulties worsened during the pandemic.5 , 6 The general social uncertainty caused by the pandemic seems to have also affected family resilience, w…

Macronutrient balance and micronutrient amounts through growth and development

AbstractNutrition is essential for human growth, particularly in newborns and children. An optimal growth needs a correct diet, in order to ensure an adequate intake of macronutrients and micronutrients. Macronutrients are the compounds that humans consume in largest quantities, mainly classified in carbohydrates, proteins and fats. Micronutrients are instead introduced in small quantities, but they are required for an adequate growth in the pediatric age, especially zinc, iron, vitamin D and folic acid. In this manuscript we describe the most important macro and micronutrients for children’s growth.

Mycoplasma Pneumoniae e neuropatia periferica.

Sindrome di Aicardi: correlati elettroclinici e follow-up in un caso con associate multiple anomalie cerebrali.

Patologia malformativa ed ostruzione nasale

Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience

Background. Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in neonates. Objectives. The aim of our study was to compare the effect of PB vs. LEV on short-term neurodevelopmental outcome in infants treated for neonatal seizures. Method. This randomized, one-blind prospective study was conducted on term neonates admitted to the Neonatal Intensive Care Unit of S. Bambino Hospital, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy, from February 2016 to February 2018. Thirty term neonates with s…

Development of a new S/MAR containing Minicircle DNA vector: a new promise for Gene Therapy.

A barrier limiting the use of nonviral vectors for gene therapy is related to the short duration of transgene expression in vivo. Development, evaluation, and optimisation of a long term transgene expression using a non viral vector is currently the primary aim in our research field. Recently, we have demonstrate that a nonviral episomal plasmid (pDNA) vector combined with a scaffold/matrix attachment region (S/MAR) is able to sustain long-term expression in murine liver for at least six months following hydrodynamic injection. However, plasmids contain sequences, which are essential for propagation in bacteria but are unnecessary for expression in mammalian cells. These bacterial component…

Idatidosi polmonare in età pediatrica: descrizione di un caso.

Storia e tradizioni su nascita e alimentazione del bambino in Sicilia

Le frontiere della neonatologia

LA NUTRIZIONE PARENTERALE E L’INTESTINO RESIDUO: QUALE RELAZIONE NEL DECORSO DI PAZIENTI CON SINDROME DA INTESTINO CORTO? VALUTAZIONE DA UNA CASISTICA NAZIONALE MULTICENTRICA

Spread of a new MBL-producing strani of Pseudomonas Aeruginosa in NICU during microbiological surveillance in 2003

Patologia Muscolare Autoimmune: dermatomiosite. La nostra casistica.

Salute e ambiente. Un nuovo impegno di coscienza

Additional file 1 of Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Additional file 1.

Seidlmayer’s purpura: five cases and review of the litterature

About 100 cases of AHEI have been published in medical literature worldwide. Although initially considered a variant of Henoch-Schonlein purpura (HSP), it is now considered a separate entity: in fact it shows infrequently visceral involvement and IgA skin depositions. Furthermore these patients show a better prognosis than HSP patients. Onset age for AHEI usually ranges between 4 and 24 months but it spreads from birth to 60 months. AHEI, also defined Seidlmayer’s purpura (SP), is characterized by the triad: fever, oedema and purpura. The latter is usually rosette-, annular- or targeted-shaped primarily over the face, ears and extremities in a nontoxic infant. The development and the rapidi…

Infliximab indispensabile per la remissione clinica nella malattia di Crohn refrattaria alla terapia tradizionale.

Risk factors for refractory Kawasaki disease: clinical records of the paediatric clinic of palermo

Kawasaki disease (KD) is an acute, self-limited febrile illness that mainly affecting small- to medium-sized vessels and occurs in early childhood. The etiology is currently unknown, however it likely results from an immunologic response triggered by microbial agents, with documented genetic susceptibility. Intravenous administration of immunoglobulin (IVIG) is the gold standard therapy for coronary arteritis in the acute phase of KD; some patients do not respond to IVIG and coronary aneurysms continue to develop in 5%. The most serious complications are coronary vasculitis and aneurysms. 15% of these patients do not respond to IVIG (Refractory KD:RMK) and have a higher risk of aneurysms.

N-BiPAP vs n-CPAP in term neonate with respiratory distress syndrome

Abstract Background Non-invasive respiratory ventilation has greatly improved the evolution of respiratory distress in neonates, especially for preterm infants, but few studies have investigated the use of non-invasive ventilation (NIV) in term infants. It is useful for neonatologists and nurses to identify the optimal ventilation strategy in terms of effectiveness for this group of newborns. The aim of our study was to investigate what type of respiratory support between nasal Continuous Positive Airway Pressure (nCPAP) or nasal Biphasic Positive Airway Pressure (nBiPAP) is more effective in term neonates with RDS. Methods Our study was a retrospective observational study of 78 full term n…

La porpora di Seidlmayer: descrizione di cinque casi

Spread of a new MBL-producing strain of pseudomanas aeruginosa in NICU during microbiological surveillance in 2003

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

Scuola e pediatria

Disostosi acrofacciale tipo Nager

Deficit di 17-alfa-idrossilasi: follow up sino alla statura definitiva

Rickets as Precocious Sign of Celiac Disease

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians. Objective and hypotheses: Explain clinical severity by a genetic background. Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (108 Cent), 12.5 kg (3–108 Cent); PH1B1. She showed typical rickets-linked signs (costochondral swelling; Harrison’s groove; genu varum; widening of wrist; skull bossing). She underwent a total-body X-ray study that showed: poor bone mineralization, femurs bowing; rachitic rosary; curved back; wrist and malleolus cupping. She had anamnestic reco…

The role of physical activity on postural stability and fitness characteristics in pediatric patients with GH deficiency

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and muscular features in physically active children with GHD, treated with GH with a high adherence to the treatment, and compared with sedentary pediatric patients. Methods: 13 children (7 males, 6 females) with GHD were enrolled at the Univ…

Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt…

Intestinal Involvement in Kawasaki Disease

Objectives To describe a case of Kawasaki disease with intestinal involvement and to analyze other published reports to define clinical characteristics, diagnostic issues, and therapeutic approaches of gastrointestinal involvement in Kawasaki disease. Study design A computerized search without language restriction was conducted using PubMed and SCOPUS. An article was considered eligible for inclusion in the systematic review if it reported data on patient(s) with intestinal involvement in Kawasaki disease. Our case was also included in the analysis. Results Thirty-three articles reporting 48 cases of Kawasaki disease with intestinal involvement were considered. Fever, abdominal pain, and vo…

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Ital…

Marker cromosomico soprannumerario invdup10)(q10q11.22) de novo in adulto con azoospermia

AB0996 Rheumathologic Diseases in Adolescence: Psychological Profile of a Difficult Age

Background Chronic disease significantly interfere with the quality of life at every age, expecially in a period of life characterized by the need to assume a role in the society and the research of a specific identity. The personal image is often destroyed by the disease, the long term sequelae of pharmacological treatment. Adolescents are frequently obligated to quit many possibilities of experience with peers. Objectives We realized a plurispecialistic approach to adolescents with rheumatologic diseases, with the figures of neuropsychiatric, psychologists, rheumatologists, endocrinologists, to give an answer to the complex requests of these patients. Methods We evaluated 20 patients with…

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …

ASSOCIATION BETWEEN CELIAC DISEASE AND ENDOCRINE AUTOIMMUNE PATHOLOGIES

Efficacia di FK506 per uso topico e Infliximab nel trattamento del coinvolgimento cutaneo nelle malattie infiammatorie croniche intestinali.

Pubertal maturation in girls treated for childhood acute leukaemia.

Eleven girlds treated during childhood for acute leukaemia were followed up during their pubertal development. At each examination weight, height, pubertal stage, FSH, LH, oestradiol, testosterone, androstenedione and dehydroepiandrosterone sulphate levels were evaluated. Clinical and endocrinological studies were performed according to age and pubertal stage and compared to those of healthy girls matched for age and pubertal stage. Results showed that pubertal maturation and gonadal function were not affected by oncotherapy; however menarche was attained earlier. Early menarche was explained by the overweight of treated girls during early puberty. No evidence of early hypothalamic activati…

Prevention of nosocomial infections and surveillance of emerging resistances in NICU

Neonates hospitalized in NICU are at risk for healthcare associated infections because of their poor immune defenses, related to gestational age, colonization of mucous membranes and skin with nosocomial microorganisms, exposure to antibiotics, invasive procedures and frequent contacts with healthcare workers (HCWs). Healthcare associated infections are the major source of morbidity and mortality in NICU in the developed world. Most infections are caused by Gram-positive organisms, fulminant sepsis are often associated to Gram-negative organisms, fungal sepsis occurs frequently in ELBW infants. Hand hygiene is the most important preventive procedure, nevertheless hand hygiene compliance amo…

Nuova mutazione del gene NIPBL in paziente affetto da Sindrome di Cornelia de Lange: report clinico e correlazione genotipo-fenotipo

gene NIPBL, Sindrome Cornelia de Lange

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Abstract Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. Patient presentation We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomitin…

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biop…

Ipotiroidismo in sindrome di Crigler-Najjar di tipo 2 ed eterozigoti per sindrome di Gilbert: quando l’ittero non può regredire.

Genetic and clinical profile of a paediatric population with FMF in Sicily

Familial Mediterranean fever (FMF) is an Autoinflammatory syndrome that is common in children in Mediterranean countries. The real prevalence of FMF in Sicilian children is unknown and need a wide population study. Furthermore, there are no data on the real prevalence of the different mutations between FMF patients and the concordance and/or discordance in clinical and biochemical parameters between patients of different generations.

Il sistema di educazione continua in medicina

Riassunto Il sistema di educazione continua in medicina, recentemente rivisitato da norme e indicazioni ministeriali, si pone come un insieme di procedure finalizzate a garantire l’acquisizione periodica di crediti per il personale sanitario, sulla scorta di esigenze e bisogni formativi in linea con gli standard della professione. Il pediatra, professionista che cura e prende in carico neonato, bambino e adolescente nel territorio e in ospedale, deve avere la possibilita di una formazione residenziale e a distanza che rispecchi le necessita multidisciplinari di una disciplina generale e specialistica, sulla base di dossier formativi personali e di gruppo, e in armonia con i piani formativi …

Candida thrombophlebitis in children: a systematic review of the literature

Abstract Objective To describe a case of thrombophlebitis associated with Candida infection and to analyze other published reports to define clinical characteristics, prognostic data, diagnostic and therapeutic strategies. Study design A computerized search was performed without language restriction using PubMed and Scopus databases. An article was considered eligible for inclusion if it reported cases with Candida thrombophlebitis. Our case was also included in the analysis. Results A total of 16 articles reporting 27 cases of Candida thrombophlebitis were included in our review. The median age of patients was 4 years. In 10 cases there was a thrombophlebitis of peripheral veins; in the re…

Disturbo di regolazione in un campione a rischio: risultati di una intervista di screening ai genitori.

Malattia di Kawasaki: modalità di esordio e decorso clinico

Apnea events in neonatal age: A case report and literature review.

Abstract Background Among the most common autonomic signs visible in preterm neonates, apnea can represent the first sign of several neurologic and non-neurologic disorders, and seizure is a relatively infrequent cause. Herein authors present a case of neonatal autonomic apnea, discussing the polygraphic video-EEG features of this pathological entity and the differential diagnosis with central apnea and autonomic apnea. Case report A female preterm Caucasian infant (29 + 4 weeks' gestational age (GA)), first twin of a twin pregnancy, at birth was intubated and surfactant administration was performed. She was ventilated via invasive ventilation for three days, with subsequent weaning with no…

An acute headache due a nodulary swell- ing of the skull

Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Advances in pediatrics in 2017: current practices and challenges in allergy, endocrinology, gastroenterology, genetics, immunology, infectious diseases, neonatology, nephrology, neurology, pulmonology from the perspective of Italian Journal of Pediatrics

Abstract This review provides an overview of a remarkable number of significant studies in pediatrics that have been published over the past year in the Italian Journal of Pediatrics. We have selected information from papers presented in the Journal that deal with allergy, endocrinology, gastroenterology, genetics, immunology, infectious diseases, neonatology, nephrology, neurology, pulmonology. The relevant epidemiologic findings, and developments in prevention, diagnosis and treatment of the last year have been discussed and placed in context. We think that advances achieved in 2017 will help readers to make the future of patients better.

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare, it is most often syndromic in etiology. Case presentation Clinical management of a female newborn with oromaxillofacial abnormities (synechiae, cleft palate, craniofacial dysmorphisms, dental anomaly) and extraoral malformations (skinfold overlying the nails of both halluces, syndactyly, abnormal external genitalia) is presented. The associated malformations addressed to molecular genetic invest…

Efficacy of a coordinated strategy for containment of multidrug-resistant Gram-negative bacteria carriage in a Neonatal Intensive Care Unit in the context of an active surveillance program

AbstractBackgroundAntimicrobial resistance in neonatal intensive care unit (NICU) patients is a threat, due to the frequent use of antimicrobial treatment and invasive devices in fragile babies. Since 2014 an active surveillance program of multidrug-resistant Gram-negative bacteria (MDR-GNB) carriage has been in place in the five NICUs of Palermo, Italy. In 2017 an increase in the prevalence of MDR-GNB, and in particular of extended-spectrum β-lactamases-producingKlebsiella pneumoniae(ESBL-KP), was observed in “Civico” hospital NICU.AimTo assess the impact of a coordinated intervention strategy in achieving long-lasting reduction of MDR-GNB prevalence in the NICU.MethodsRectal swabs were ob…

IBD does not always travel alone.

Marker cromosomico soprannumerario inv/dup 15 ed autismo

Lo scorbuto in età pediatrica: descrizione di due casi recenti

LONG GAP ESOPHAGEAL ATRESIA AND ASSOCIATED ANOMALIES ATRESIA ESOFAGEA “LONG GAP” ED ANOMALIE ASSOCIATE

Patients with long gap esophageal atresia are often managed with gastrostomy and tube drainage of the proximal pouch, despite the high risk of aspiration and nosocomial infections. Long gap esophageal atresia has been reported in the presence of congenital anomalies, most often within the spectrum of the VACTERL association. We report on three preterm newborns in whom the association of long gap esophageal atresia, prematurity and congenital anomalies led to a significant reduction of the patients' life span, amplifying many clinical problems. Patients with long gap esophageal atresia are often managed with gastrostomy and tube drainage of the proximal pouch, despite the high risk of aspira…

Sindrome Nefrosica Congenita di tipo Finlandese ed ipotiroidismo: descrizione di un caso

ADOLESCENTI IMMIGRATE E SINDROME DI TURNER: PROBLEMATICITA’ DI UN FOLLOW UP E DI UNA TERAPIA CRONICA IN DIFFERENTI ETNIE

Revised recommendations of the Italian Society of Pediatrics about the general management of Kawasaki disease

AbstractAim of these revised recommendations for the general management of Kawasaki disease is to encourage its prompter recognition and warrant the most appropriate therapy, based on ascertained scientific data, raising awareness of the complications related to misdiagnosis or delayed treatment. A set of 20 synthetic operative statements is herein provided, including the definition of Kawasaki disease, its protean presentations, clinical course and seminal treatment modalities of all disease phases. The application of these recommendations should improve prognosis of Kawasaki disease and prevent the progression to permanent vascular abnormalities, thereby diminishing morbidity and mortalit…

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G &amp;gt;C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?

Abstract BackgroundHypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED Is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. Case PresentationWe report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain signific…

Quando l’amnios si rompe troppo presto e… da solo

Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as early amnion rupture sequence or ADAM (Amniotic Deformity, Adhesions, Mutilations) complex, characterized by asymmetrical congenital anomalies, including limb reduction and craniofacial defects, usually arising during the 2nd or 3rd trimester of gestation. The paper reports the case of a 4-month-old infant who was referred for genetic counselling in the suspicion of malformation syndrome with asymmetrical limb reduction defects. The present case un…

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…

FOLLOW UP DI UN CASO DI SINDROME DI COSTELLO CON PUBERTA’ PRECOCE

Terapia con Mecasermina in un bambino con iperinsulinismo congenito da mutazione INS-R

Quando la MICI va dal reumatologo

ERNIA DIAFRAMMATICA CONGENITA: COMPROMISSIONE TORACO-POLMONARE E DIAGNOSI GENETICA

L’ernia diaframmatica congenita (EDC) è una malformazione caratterizzata da un difetto di formazione del diaframma che rimane incompleto, determinando un diverso grado di risalita degli organi addominali nel torace durante la vita fetale. La sopravvivenza è condizionata principalmente dalla compromissione del parenchima polmonare che causa un mancato sviluppo alveolare e vascolare con conseguenti ipoplasia e ipertensione polmonare. L’aumentata sopravvivenza alla nascita dei neonati con EDC ha comportato un parallelo aumento della morbilità respiratoria a lungo termine. In oltre il 70% dei casi l’evento patogenetico dell’EDC è sconosciuto; tuttavia è sempre più evidente il ruolo dei fattori …

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…

The social role of pediatrics in the past and present times.

AbstractPediatrics and society are closely related. This link is as old as the history of Pediatrics, and dates to the second half of the eighteenth century. The vocation of the first European pediatric schools, indeed, was clinical and scientific, as well as social. The founding fathers of Pediatrics were scientists of great talent, and many of them benefactors and philanthropists. They spent their lives assisting the suffering childhood, and became promoters and organizers of social securities for the poorest and most vulnerable categories. The attention to the problems of abandonment was closely linked to study, prevention, and treatment of pathologies (especially infectious, deficiency …

Caring for Infants and Children Following Alternative Dietary Patterns

The number of people that refrain from eating meat has apparently increased. This is due to a variety of factors other than economic constraints or religious concerns, which have long been reasons for such dietetic conduct. Several reasons for adopting diets excluding meat include improved health, concerns regarding animal welfare, the use of antibiotics and hormones in livestock, and the excessive exploitation of environmental resource. Consequently, the number of children whose parents decide to follow alternative diets, such as vegetarian, vegan, macrobiotic, or fruitarian, is also growing. Clinical research regarding adults adopting such diets has expanded, and their nutritional impact …

Atresia digiuno-ileale tipo apple-peel: raro esordio neonatale di fibrosi cistica

fibrosi cistica, atresia digiuno-ileale, apple-peel

Il follow-up del neonato pretermine

DIAGNOSI E PROGNOSI DELLA MALATTIA DI KAWASAKI FRA MARKERS EMATOCHIMICI E CLINICI

La vita prenatale, il parto e il neonato

Congenital generalized hypertrichosis: the skin as a clue to complex malformation Syndromes.

Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution. Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertri…

Pelvic magnetic resonance imaging in Turner syndrome.

Background: Adolescents with Turner Syndrome (TS) live a difficulty related to the prospective to have spontaneous pubertal development and menarche as well as to their future fertility. These questions have relevant psychological-therapeutic implications on clinical and endocrine follow-up and represent critical points in the TS management. Some patients have spontaneous menarche and do not need estroprogestinic replacement in the first years of adolescence. This evolution is not always predictable on the basis of hormonal pattern and echographic imaging, while it is described in patients with mosaicism. Methods: We studied 17 patients with TS, age: 9-16 years, caryotype 45,X in 9 patients…

Familial Protein Losing Enteropathy

THE “SALT-TASTING” NEWBORN

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two forms of the disease - renal and systemic – have been described, which are genetically distinct and with wide clinical expressivity. The most severe generalized PHA1 is caused by mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC). The paper reports the case of a newborn of the first pregnancy of healthy and consanguineous Sicilian parents, with a clinical and hormonal pic…

Rapid molecular diagnosis of Gilbert’s syndrome

Delayed neonatal visual evoked potentials are associated to asymmetric growth pattern in twins

Abstract Objectives To study the association between intrauterine growth and visual pathways maturation by neonatal visual evoked potentials (VEPs) in twins, in view of a possible prognostic role. Methods Seventy-four twin neonates from 37 pregnancies were selected based on gestational age of more than 30 weeks and uneventful perinatal clinical course. Flash VEPs were recorded at the same postmenstrual age in each twin pair. The association between P2 latency and anthropometric variables at birth was analyzed by comparison within each twin pair and regarding each variable as ordered difference between the two twins. Results Analysis of differences within each twin pair highlighted that inte…

Comparison of Postural Features and Muscle Strength between Children with Idiopathic Short Stature and Healthy Peers in Relation to Physical Exercise

Previous research has reported that children with idiopathic short stature (ISS) showed functional and cognitive impairments. The purpose of this study was to compare muscle strength and body posture between children with ISS treated with growth hormone (GH) and healthy peers (healthy children, HC), and to analyze whether these parameters were affected by physical exercise. Eighteen children for the ISS group (mean age: 10.96 ± 1.68 years) and 26 children for the HC group (mean age: 10.19 ± 1.06 years) were recruited for the study. All participants performed the following assessments: handgrip and Sargent test for the muscle strength evaluation; baropodometric and stabilometric test for the…

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

A case of Kawasaki disease mimicking acute appendicitis

Kawasaki disease (KD) is an acute vasculitis of unknown aetiology occurring mostly in infants and young children. KD is characterized by fever (≥5 days), conjunctivitis, rash, cervical lymphadenopathy, lips, oral mucosa, palms and soles erythema, hands and feet oedema [1]. Coronary artery aneurysms develop in 15-25% of untreated children [2] with risk of ischemic heart disease, myocardial infarction, sudden death [3;4]. Treatment with intravenous gamma globulins (IVIG) within the first 10 days reduces the incidence of aneurysms to <5% [4]. The KD diagnosis is clinical, based on the recognition of a characteristic set of signs and symptoms [4]. Children not meeting traditional criteria are c…

Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature.

Abstract Background Acute pancreatitis is a disorder of reversible inflammation of the pancreas. Only a few cases are related to infections and the most common pathogens are the viruses responsible for mumps, parotitis, and influenza. Epstein-Barr virus (EBV)-associated acute pancreatitis is a rare condition and it may occur in children and adults. Case presentation A 3-year-old female was admitted to the “G. Di Cristina” Children's Hospital in Palermo for vomiting and abdominal pain. Laboratory investigations revealed elevated amylase and lipase, with normal liver function tests. Abdominal ultrasound demonstrated an enlarged pancreas, with hypoechogenic areas; no biliary lithiasis was obse…

Sensitivity of three commercial tests for SARS-CoV-2 serology in children: an Italian multicentre prospective study

Abstract Background US Food and Drug Administration has issued Emergency Use Authorizations for hundreds of serological assays to support Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) diagnosis. The aim of this study is to evaluate, for the first time in children, the performance of three widely utilized SARS-CoV-2 serology commercial assays, Diesse Diagnostics (IgG, IgA, IgM) and Roche Diagnostics, both Roche Nucleocapsid (N) IgG and Roche Spike (S) IgG assays. Methods Sensitivity and 95% confidence intervals (CIs) were estimated for each of the three different serological tests and mixed and direct comparison were performed. Univariate and multivariate Poisson regression mo…

Femicide and murdered women’s children: which future for these children orphans of a living parent?

Background: To assess the prevalence of femicides in Italy over the last three years and the potential long lasting effects of these traumatic events for the children of a woman who dies a violent death. Methods: The data used in this study come from an internet search for the number of femicides occurring in Italy between 1st January, 2012 and 31st October, 2014. Results: The total number of femicides was 319; the average age of murdered women was 47.50∈±∈19.26. Cold arms in the form of sharp object -mostly knives- have caused the death of 102/319 women; firearms were used in 87/319 cases; asphyxiation was the chosen method in 52/319 cases. About the place where the femicides occurred, 209…

Colonizzazione da Staphylococcus Aureus Meticillino-Resistente (MRSA) in epoca di vita neonatale nell’U.O. Neonatologia e TIN dell’AOUP “P.Giaccone” di Palermo nel periodo 2009 - 2015

Colonizzazione, MRSA, UTIN

Foster Care: A Fragile Reality Needing Social Attention, and Economic Investments.

The combination of psychosocial, medical, and educational care usually leads to immediate and long-term extra cost, which may pay out only decades later. This social and economic investment may be regarded by economists as being hardly affordable, especially during recession periods. However, we strongly believe that there are alternatives allowing adequate care even in times of economic turmoil. The aim of this report is to raise the awareness of the pediatric community and the public opinion toward the importance of investing in health programs offering adequate protection, prevention, and provision of care for orphan, abandoned, maltreated, and neglected children.

UNA NUOVA MUTAZIONE DEL GENE CREBBP IN UN BAMBINO CON SINDROME DI RUBINSTEIN TAYBI

UN CASO INUSUALE DI ANEMIA EMOLITICA

Associazione VACTERL incompleta: descrizione di 2 neonati senza atresia esofagea

Fibrosi cistica e tolleranza glucidica: esperienza del Centro Regionale di Palermo

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…

Urinary metabolomics of bronchopulmonary dysplasia (BPD): preliminary data at birth suggest it is a congenital disease

Abstract Objective: Bronchopulmonary dysplasia (BPD) or chronic lung disease is one of the principal causes of mortality and morbidity in preterm infants. Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications. The trigger cause of the disease comprehends the impairment of the alveolar development and the increased angiogenesis. Nevertheless, the molecular pathways characterizing the disease are still unclear. Therefore, the use of the metabolomics technique, due to the capability of identifying instantaneous metabolic perturbation, might help to recognize metabolic patterns associated with the cond…

Breastfeeding and COVID-19 vaccination: position statement of the Italian scientific societies

AbstractThe availability of a COVID-19 vaccine has raised the issue of its compatibility with breastfeeding. Consequently, the Italian Society of Neonatology (SIN), the Italian Society of Pediatrics (SIP), the Italian Society of Perinatal Medicine (SIMP), the Italian Society of Obstetrics and Gynecology (SIGO), the Italian Association of Hospital Obstetricians-Gynecologists (AOGOI) and the Italian Society of Infectious and Tropical Diseases (SIMIT) have made an ad hoc consensus statement. Currently, knowledge regarding the administration of COVID-19 vaccine to the breastfeeding mother is limited. Nevertheless, as health benefits of breastfeeding are well demonstrated and since biological pl…

The world of twins: an update

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

SHOX Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014-2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We selected 6 patients (5 females; 1 male; age: 1.2-11 years), with documented mutations of the SHOX gene or of the promoter. One patient was already treated with low doses of GH for GHD, documented by 2 tests. One patient had type …

Effetti dell'allattamento al seno e dell'epoca di introduzione del glutine sullo sviluppo della malattia celiaca

Dottore, mio figlio non impara a leggere”. I Disturbi Specifici dell’Apprendimento (DSA) e il pediatra di famiglia

Si parla di Disturbo Specifico di Apprendimento (DSA) quando sono presenti delle difficoltà isolate e circoscritte nella lettura (Dislessia) e/o nella scrittura (Disortografia) e/o nel calcolo (Discalculia) nonostante la presenza di adeguate capacità cognitive e opportunità scolastiche. Tali difficoltà hanno carattere evolutivo e persistente, presentandosi con diversa espressività clinica nelle varie fasi dello sviluppo. La prevalenza mondiale del disturbo si attesta tra il 5 e il 15% (DSM 5, 2013). L’incidenza è maggiore nei maschi, con un rapporto M/F stimato intorno a 2:1, 3:1 (DSM 5, 2013). In Italia la stima di prevalenza dei DSA fra i bambini in età scolare oscilla fra il 3 e il 5% (C…

SCLERODEMIA SISTEMICA: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA

Physical, psychological and social impact of school violence on children.

Abstract Violence against children includes all forms of violence against people under 18 years old whether perpetrated by parents or other caregivers, peers, partners, teacher or strangers. This is a public health, human rights, and social problem: levels of violence against children are frightfully high and it is estimated that up to 1 billion children aged 2–17 years, have experienced a type of violence. Very few studies provided physical violence perpetrated at school but it can have a physical impact, causing psychological distress, permanent physical disability and long-term physical or mental ill-health. Children who experienced any type of violence at school may develop reactive att…

The year 2021 in COVID-19 pandemic in children

AbstractIn this article, the developments in the field of COVID-19 pandemic published in the Italian Journal of Pediatrics in 2021 are reflected. We describe progresses in SARS-CoV-2 transmission route, clinical presentation, diagnosis, treatment, and access to health care facilities in children. They led to substantial changes in the clinical approach.

Il dolore nelle emopatie infantili. Dati preliminari.

INFEZIONE DA MICOPLASMA ED ANEMIA EMOLITICA: DA TRIGGER AD INDUTTORE DI AUTOIMMUNITA'

Gluten-free diet impact on leptin levels in asymptomatic coeliac adolescents: one year of follow-up.

Coeliac disease, daily more frequently diagnosed in our population, involves many organs also in oligosymptomatic patients and with an adequate nutritional regime. Possible endocrine implications include failure to thrive, pubertal delay and reproduction diseases due to deregulation of GH, FSH and LH secretion. Leptin, an adipose tissue hormone, can be decreased as well and its deficiency could be related to growth and puberty anomalies. We studied 14 asymptomatic coeliac patients in peripubertal age (7.5–13.8 years) and tested their leptin levels in order to correlate them with endocrine and anthropometric data. Before the diet was started leptinaemia (M±DS) was: 4.94 ± 5.53 ng/ml. In 10/1…

Respiratory syncytial virus infection in a Sicilian pediatric population: Risk factors, epidemiology, and severity

Respiratory syncytial virus (RSV) is the leading cause of hospitalization for lower respiratory tract infections (LRTIs) in young children worldwide. This study evaluated the epidemiological and clinical patterns of RSV infection in infants hospitalized for LRTIs in Sicily. Over a 7-month period (October 1, 2005 to April 30, 2006), all children 6 months old, with a gestational age (GA) of >36 weeks, with a birth weight of >2.50 g, with previous hospitalizations due to LRTI, with smokers in the household, and with a history of breast-feeding (p < 0.05 for each). RSV infection was associated with a higher likelihood to be admitted to neonatal intensive care units and to longer hospitalization…

Insulin resistance in paediatric patients with mild-moderate chronic renal insufficiency

Irsutismo in sindrome microcefalia con sinostosi radio-ulnare: prima segnalazione di una associazione

Il neonato con malformazioni congenite

Prevalenza delle mutazioni in GJB2 nella popolazione siciliana affetta da sordità neurosensoriale.

Congenital cytomegalovirus related intestinal malrotation: a case report

Background: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. Case presentation: We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete i…

Sciwora con mioclono spinale.Descrizione di un caso in età adolescenziale

Composition of Human Breast Milk Microbiota and Its Role in Children's Health

: Human milk contains a number of nutritional and bioactive molecules including microorganisms that constitute the so-called "Human Milk Microbiota (HMM)". Recent studies have shown that not only bacterial but also viral, fungal, and archaeal components are present in the HMM. Previous research has established, a "core" microbiome, consisting of Firmicutes (i.e., Streptococcus, Staphylococcus), Proteobacteria (i.e., Serratia, Pseudomonas, Ralstonia, Sphingomonas, Bradyrhizobium), and Actinobacteria (i.e., Propionibacterium, Corynebacterium). This review aims to summarize the main characteristics of HMM and the role it plays in shaping a child's health. We reviewed the most recent literature…

Perinatal and newborn care in a two years retrospective study in a first level peripheral hospital in Sicily (Italy)

Abstract Background Two hundred seventy-five thousand maternal deaths, 2.7 million neonatal deaths, and 2.6 million stillbirths have been estimated in 2015 worldwide, almost all in low-income countries (LICs). Moreover, more than 20 million severe disabilities result from the complications of pregnancy, childbirth or its management each year. A significant decrease of mortality/morbidity rates could be achieved by providing effective perinatal and newborn care also in high-income countries (HICs), especially in peripheral hospitals and/or rural areas, where the number of childbirths per year is often under the minimal threshold recognized by the reference legislation. We report on a 2 years…

Vitamin D in pediatric age: consensus of the Italian Pediatric Society and the Italian Society of Preventive and Social Pediatrics, jointly with the Italian Federation of Pediatricians.

Abstract Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur. Besides its historical skeletal functions, in the last years it has been demonstrated that vitamin D directly or indirectly regulates up to 1250 genes, playing so-called extraskeletal actions. Indeed, recent data suggest a possible role of vitamin D in the pathogenesis of several pathological conditions, including infectious, allergic and autoimmune diseases. Thus, vitamin D deficiency may affect not only musculoskeletal health but also a potentially wide range of acute and chronic conditions. At …

Prevenzione della patologia respiratoria virale nel neonato di bassissimo peso.

A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.

Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…

"Un mare di bambini": progetto pilota condiviso LNI-SIP

Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature

Abstract Background Ocular paroxysmal events can accompany a variety of neurological disorders. Particularly in infants, ocular paroxysmal events often represent a diagnostic challenge. Distinguishing between epileptic and nonepileptic events or between physiological and pathologic paroxysmal events can be challenging at this age because the clinical evaluation and physical examination are often limited. Continuous polygraphic video-electroencephalography (EEG) monitoring can be helpful in these situations. Methods We review ocular paroxysmal events in newborns and infants. The aim is to improve clinical recognition of ocular paroxysmal events and provide a guide to further management. Usin…

ASMA, ATTIVITA’ FISICA E INQUINAMENTO IN PEDIATRIA

DOWN REGULATION OF LYMPHOCYTES APOPTOSIS IN GIRLS WITH PRECOCIOUS PUBERTY

The effects of sexual hormones secretion in children with precocious puberty induce significant somatic and psychological changes, with systemic implications on several organs and tissues. Besides immune system and blood cells are involved in these changes. Recent studies on mice lymphocytes have demonstrated a protection of estrogens against apoptosis Fas-FasL pathway. These data could partially elucidate why autoimmune diseases are more frequent in females adolescents, whereas males have higher mortality associated with infectious diseases. We studied ten girls (age: 4-7 years) affected by idiopathic precocious puberty, with pubertal stage B3-PH3-4. All presented increased bone age/chrono…

Applicazione della PFGE nella sorveglianza delle colonizzazioni da gram negativi multiresistenti in UTIN

Infliximab and topical tacrolimus administration effective in the treatment of Pyoderma Gangrenosum.

Macrocefalia: analisi dei fattori predittivi di compromissione dello sviluppo neuropsicomotorio in un campione selezionato di 22 casi.

The Dark Side of the Web—A Risk for Children and Adolescents Challenged by Isolation during the Novel Coronavirus 2019 Pandemic

In response to the global novel coronavirus disease 2019 (COVID-19) pandemic, many countries around the world adopted social isolation measures to contain the spread of the virus.1 For children and adolescents, limitations in faceto-face activities and interactions with their traditional peer groups has been a frustrating experience. After disease containment measures, which included school closures, social distancing, and home quarantine, children and adolescents faced a prolonged state of physical isolation from their peers, teachers, extended family, and community networks that affects their emotional and behavioral health.2 Parents and pediatricians are reporting signs of mental distres…

Developments in pediatrics in 2020: choices in allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, ortopedics, respiratory tract illnesses and rheumatology

AbstractIn this article, we describe the advances in the field of pediatrics that have been published in the Italian Journal of Pediatrics in 2020. We report progresses in understanding allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, orthopedics, respiratory tract illnesses, rheumatology in childhood.

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

Abstract Background Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the liter…

Providing pediatric well-care and sick visits in the COVID-19 pandemic era: the recommendations of the Italian pediatric society.

AbstractPediatricians have observed a significant decrease in in-person child health visits during the COVID-19 pandemic. In the post lockdown period, the coronavirus trend remains positive in Italy but fears of a second wave have recently grown in Italy due to active hotbeds of contagion. The pandemic may negatively affect the care of pediatric patients and overall children welfare as it may present with severe signs and symptoms or it may complicate. The Italian Pediatric Society recommend to separate well visits from sick ones, to educate families and to promote hygienic strategies to provide an adequate pediatric assistance in case of a second pandemic wave.

Integrated management of children with malformations: the example of Down's syndrome

Typical Kawasaki disease with atypical pneumonia: a paediatric case report.

Patients with complete Kawasaki disease (KD), in approximately 10–20% of cases, fail to defervesce with intravenous immunoglobulin (IVIG) infusion and acetylsalicylic acid (ASA) (1–5). Failure is u...

Kawasaki disease triggered by EBV virus in a child with Familial Mediterranean Fever

Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa. Kawasaki Disease, an acute systemic vasculitis with persistent fever (5 or more days), rash, stomatitis, conjunctivitis, lymphadenopathy, changes in extremities, is currently considered a multifactorial autoinflammatory disease. An infection, as Epstein Barr virus, can be the trigger of Kawasaki Disease. Case presentation We describe the clinical case of a 3-year-old boy with Kawasaki disease. Successfully treated with intravenous immune globulin, ac…

855 Double Blind Placebo Controlled Food Challenge Useful to Disconfirm Over Estimated Diagnosis of Cmpa in Children

Background and aims: The incidence of CMPA in infancy seems to be approximately 3%. In Italy diagnosis of CMPA is often over estimated. The double-blind, placebo controlled food challenge(DBPCFC) is widely considered as the “gold standard” for the diagnosis of food allergy. Methods: 14 patients, (12 months-12 yrs) previously diagnosed as having CMPA, underwent our diagnostic algorithm in order to confirm or to exclude diagnosis. Diagnostic algorithm includes: total blood cell count, serum IgE assay, RAST, betalactotest, Prick by prick with fresh milk, chemical examination and eosinophilic cell count of the stools. DBPCFC was performed with extensively hydrolyzed formula (as placebo) VS a la…

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Sindrome 13 q: intervento comportamentale e relazionale

Correlazione tra valori di PCDAI e livelli di ASCA in un gruppo di pazienti pediatrici affetti da malattia di Crohn

General Movements (GMs): assessment and predictive value