Il neonato che “sa di sale”

2021

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…

IL-1 BLOCKADE IN PAEDIATRIC RECURRENT PERICARDITIS: A MULTICENTRIC RETROSPECTIVE STUDY OF THE ITALIAN COHORT

2019

Introduction: Acute pericarditis is an inflammatory condition causing the occurrence of pericardial effusion. In a third of patients, the disease is recurrent. First line treatment of idiopathic pericarditis consists in non-steroidal anti-inflammatory drugs (NSAIDs) and colchicine; glucocorticoids represent the second line treatment in resistant or intolerant cases. A recent clinical trial has enlightened the effectiveness of anakinra in adults and paediatric patients with colchicine-resistant recurrent pericarditis. Objectives: To describe the clinical characteristics and response to treatment in a cohort of paediatric patients with recurrent pericarditis treated with IL inhibitors. Method…

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

2018

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…

ISOLATED PYODERMA GANGRENOSUM AND ADALIMUMAB:CASE REPORT IN PAEDIATRIC AGE

2018

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

2016

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…

La MIS-C fra presente e futuro: cardio-RMN e prognosi cardiologica a medio e lungo termine. Esperienza di un singolo centro.

2021

Anakinra drug retention rate and predictive factors of long-term response in systemic juvenile idiopathic arthritis and adult onset still disease

2019

Background and Objective: Only a few studies have reported long-term efficacy of interleukin (IL)-1 inhibition in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still disease (AOSD). Herein we report on the effectiveness of anakinra (ANA), expressed in terms of drug retention rate (DRR), and evaluate the predictive factors of drug survival in a cohort of patients with sJIA and AOSD. Patients and Methods: This is a multicenter study reviewing retrospectively the medical records from 61 patients with sJIA and 76 with AOSD, all treated with ANA in 25 Italian tertiary referral centers. Results: The cumulative retention rate of ANA at 12-, 24-, 48-, and 60-month of follow-up was 7…

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

2015

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…

Familial Mediterranean Fever: an unusual cause of liver disease

2019

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 …

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

2021

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…

Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sec…

2021

Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology cen…

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

2017

Tubulointerstitial nephritis and uveitis syndrome post-COVID-19

2023

PARVOVIRUS INFECTION AND KAWASAKI DISEASE: ONE DISEASE FOR TWO SIBLINGS

2018

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

2018

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…

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

2018

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…

Are Kawasaki Disease and Pediatric Multi-Inflammatory Syndrome Two Distinct Entities? Results from a Multicenter Survey During SARS-CoV-2 Epidemic in…

2020

Background: There is mounting evidence on the existence of a childhood multi-inflammatory syndrome related to SARS-CoV-2, sharing similarities with Kawasaki Disease (KD).  Methods: On April 24th,2020 the Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD or KD-like disease. Classification was: 1) classical and incomplete KD, named Kawasaki Disease Group (KDG); 2) KD-like multi-inflammatory syndrome, named KawaCOVID Group (KCG). Demographic, clinical, and laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAPO). Chi square test or exact Fisher test and non parametric W…

Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicent…

2017

Summary Background Little evidence-based information is available to guide the treatment of oligoarticular juvenile idiopathic arthritis. We aimed to investigate whether oral methotrexate increases the efficacy of intra-articular corticosteroid therapy. Methods We did this prospective, open-label, randomised trial at ten hospitals in Italy. Using a concealed computer-generated list, children younger than 18 years with oligoarticular-onset disease were randomly assigned (1:1) to intra-articular corticosteroids alone or in combination with oral methotrexate (15 mg/m 2 ; maximum 20 mg). Corticosteroids used were triamcinolone hexacetonide (shoulder, elbow, wrist, knee, and tibiotalar joints) o…

National guidelines for dental diagnostic imaging in the developmental age

2019

This document aims to support the dental professional in choosing the adequate diagnostic technique, minimising the radiation dose in observance of the As Low As Reasonably Achievable (ALARA) principle (7). This principle states that the biological cost can only be justifed when the beneft, that is, the diagnosis, outweighs the risk related to radiation exposure. In this guideline paper, we report recommendations for radiologists, medical physicists, paediatrician, dentists and maxillofacial surgeons, with reference to the specifc felds.

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

2013

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…

Development and implementation of the AIDA international registry for patients with Still's disease

2022

ObjectiveAim of this paper is to present the design, construction, and modalities of dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for patients with systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD), which are the pediatric and adult forms of the same autoinflammatory disorder.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument implemented for the retrospective and prospective collection of real-world data. The collection of data is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain evidence drawn from routine patients' management. The co…

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407

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

2021

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…

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

2022

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thu…

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

2019

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<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…

Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis.

2019

Introduction: The advent of biologic agents has revolutionized therapeutic approaches in systemic juvenile idiopatic arthritis (sJIA) as their introduction has been shown to modify disease course and improve overall outcomes, particularly when initiated early. Few studies have reported the drug retention rate (DRR) of biologic drugs in JIA, and none of them has specifically investigated the DRR of interleukin (IL)-1 inhibitors on sJIA. Objectives: The primary aim of the study was to examine the overall DRR of IL-1 blockers in sJIA patients. Secondary aims of our study were to: (i) explore the influence of biologic line of treatment, adverse events (AEs), type of anti-IL-1 agent and the conc…

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

2022

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.

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

2019

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>C: p.Glu138Asp of the exon 3). The same mutation was first confirme…

A 7-Year-Old Boy and a 14-Year-Old Girl Initially Diagnosed with Toxic Shock Syndrome and Tested Positive for SARS-CoV-2 Infection, Supporting a Diag…

2021

Case series Patients: Male, 7-year-old • Female, 14-year-old Final Diagnosis: Multisystem inflammatory syndrome in children (MIS-C) Symptoms: Muscular weakness • shock Medication: — Clinical Procedure: — Specialty: Critical Care Medicine • Infectious Diseases • Pediatrics and Neonatology • Rheumatology Objective: Unusual clinical course Background: Multisystem inflammatory syndrome in children (MIS-C) has recently been described in children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This report describes 2 children with MIS-C who were initially diagnosed with toxic shock syndrome but who tested positive for SARS-CoV-2 infection on reverse transcription-polym…

Canakinumab as first-line biological therapy in Still’s disease and differences between the systemic and the chronic-articular courses: Real-life exp…

2022

ObjectiveInterleukin (IL)-1 inhibitors are largely employed in patients with Still’s disease; in cases with refractory arthritis, IL-6 inhibitors have shown to be effective on articular inflammatory involvement. The aim of the present study is to assess any difference in the effectiveness of the IL-1β antagonist canakinumab prescribed as first-line biologic agent between the systemic and the chronic-articular Still’s disease.MethodsData were drawn from the retrospective phase of the AutoInflammatory Disease Alliance (AIDA) international registry dedicated to Still’s disease. Patients with Still’s disease classified according to internationally accepted criteria (Yamaguchi criteria and/or Fa…

Evaluation of fitness levels of children with a diagnosis of acute leukemia and lymphoma after completion of chemotherapy and autologous hematopoieti…

2014

The aim of this study was to assess the fitness levels and possible deficits in physical performance in children with a diagnosis of childhood acute leukemia and lymphoma after 10 months of therapy ending through a specific test battery. A total of 58 subjects were enrolled in this study. The experimental group (EG) (7.55 ± 2.43 years; 41.8 ± 16.37 kg; 144.6 ± 10.21 cm) consisted of 18 children with diagnosed leukemia and lymphoma after completion of 10 months of therapy intervention and 40 healthy children who were enrolled in a control group (CG) (7.92 ± 1.78 years; 37.4 ± 12.37 kg; 140.6 ± 12.61 cm). A testing battery including the standing broad jump; the sit-up test; the 4 × 10 m shutt…

Genetic and clinical profile of a sicilian population with R92Q mutation

2017

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…

The diagnostic role of pathergy test in patients with Behçet's disease from the Western Europe.

2022

The aim of the study is to evaluate the frequency and features of positive pathergy test (PPT) in Italy, its role in the diagnosis of Behçet's disease (BD), and any association with other BD-related manifestations. 52 BD patients, 52 patients with axial spondyloarthritis (ax-SpA), and 26 healthy controls (HCs) underwent intradermal injection of normal saline and intradermal needle soaked with fresh self-saliva. The results of pathergy tests were statistically analysed in the light of demographic, clinical, and therapeutic features of subjects enrolled. Pathergy test performed with saline resulted always negative in all groups. Skin prick test using self-saliva resulted in the occurrence of …

A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

2017

Abstract Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. …

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

2017

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…

Interleukin 1α: a comprehensive review on the role of IL-1α in the pathogenesis and treatment of autoimmune and inflammatory diseases.

2021

Abstract The interleukin (IL)-1 family member IL-1α is a ubiquitous and pivotal pro-inflammatory cytokine. The IL-1α precursor is constitutively present in nearly all cell types in health, but is released upon necrotic cell death as a bioactive mediator. IL-1α is also expressed by infiltrating myeloid cells within injured tissues. The cytokine binds the IL-1 receptor 1 (IL-1R1), as does IL-1β, and induces the same pro-inflammatory effects. Being a bioactive precursor released upon tissue damage and necrotic cell death, IL-1α is central to the pathogenesis of numerous conditions characterized by organ or tissue inflammation. These include conditions affecting the lung and respiratory tract, …

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

2018

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

2021

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…

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

2011

Covid-19 temporally related multisystem inflammatory syndrome (MIS-C): una finestra precoce di opportunità terapeutica è una strategia vincente? COVI…

2021

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

2014

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.

Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort

2021

Abstract Objective The objective of this study was to use real-world data to evaluate the effectiveness and safety of canakinumab in Italian patients with systemic JIA (sJIA). Methods A retrospective multicentre study of children with sJIA was performed. Clinical features, laboratory parameters and adverse events were collected at baseline, and 6 and 12 months after starting canakinumab. The primary outcome measure of effectiveness was clinically inactive disease (CID) off glucocorticoids (GCs) treatment at 6 months. Results A total of 80 children from 15 Italian centres were analysed. Of the 12 patients who started canakinumab in CID while receiving anakinra, all maintained CID. Of the 68 …

The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

2018

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their paren…

VDR MUTATION IN TWO SISTERS: PHENOTYPE VARIABILITY AND CLINICAL OUTCOME

2017

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…

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

2019

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…

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

2019

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…

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

2019

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 …

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

2021

INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

2021

Contains fulltext : 231528.pdf (Publisher’s version ) (Closed access) BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classifica…

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

2011

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…

ADIPOKINES IN CHILDREN WITH CHRONIC RENAL FAILURE

2015

Chronic Renal Failure (CRF) has negative impact on nutrition, growth, puberty, glycometabolic homeostasis, adipokines secretion. Adipokines play a role on these patients' short term complications and they influence their long term outcome. Many studies highlighted the influence of adipokines on cardiovascular complications, glycometabolic assess, nutrition of adults and children with CRF. High serum resistin and adiponectin levels can have a possible role in the development of protein-energy wasting among CRF patients. Elevated serum leptin levels were thought to contribute to the anorexia and poor nutrition in children on haemodialysis for CRF. Several studies have demonstrated leptin infl…

Systemic lupus erythematosus and bullous pemphigoid with dramatic response to dapsone

2017

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…

Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)

2019

Introduction: Cryopyrin associated periodic syndromes (CAPS) are rare autoinflammatory disorders associated with dominantly gain-offunction mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. It has been reported that oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) are released together with IL-1beta and active caspase-1 subunits after activation of the inflammosome complex and that patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: The diagnosis of CAPS is a critical factor due…

PAPA syndrome: novelties from the Eurofever registry

2019

Introduction: PAPA syndrome is a very rare autoinflammatory condition. Few data are nowadays available about the clinical characteristic, the response to treatment and the outcome of this disease. Objectives:To analyse the data of the PAPA patients enrolled to the Eurofever registry. Methods: the data analysed in the study were extracted from the Eurofever registry, which is hosted in the PRINTO website (www.printo. it). The patients were included in the study in the presence of mutations in the PSTPIP1 gene or, in genetically negative patients, in the presence of at least two of the following clinical manifestation: recurrent pyogenic arthritis, pyoderma gangrenousm or skin abscess with ne…

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

2022

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 …

Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry

2021

Abstract Objectives To investigate survival of IL-1 inhibitors in monogenic autoinflammatory disorders (mAID) through drug retention rate (DRR) and identify potential predictive factors of drug survival from a real-life perspective. Patients and methods Multicentre retrospective study analysing patients affected by the most common mAID treated with anakinra or canakinumab. Survival curves were analysed with the Kaplan-Meier method. Statistical analysis included a Cox-proportional hazard model to detect factors responsible for drug discontinuation. Results Seventy-eight patients for a total of 102 treatment regimens were enrolled. The mean treatment duration was 29.59 months. The estimated D…

Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders.

2013

<b><i>Background/Aim:</i></b> Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). <b><i>Methods:</i></b> A questionnaire was sent and if a patient was identified, data on growth and diabetes management were collected. <b><i>Results:</i></b> Data from 42 centers (84%) were obtained. Of these, 29 centers reported that the use of combined therapy was usually avoided. A total of 17 patients were treated in 13 centers (GH was started before T1…

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

2020

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…

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

2018

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.

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

2020

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…

Development and implementation of the AIDA international registry for patients with Schnitzler's syndrome.

2022

ObjectiveThe present paper describes the design, development, and implementation of the AutoInflammatory Disease Alliance (AIDA) International Registry specifically dedicated to patients with Schnitzler's syndrome.MethodsThis is a clinical physician-driven, population- and electronic-based registry implemented for the retrospective and prospective collection of real-life data from patients with Schnitzler's syndrome; the registry is based on the Research Electronic Data Capture (REDCap) tool, which is designed to collect standardized information for clinical research, and has been realized to change over time according to future scientific acquisitions and potentially communicate with other…

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

2019

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>C: p.Glu138Asp dell’esone 3) ed iniziata terapia con GH. La ste…

The AutoInflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

2022

ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner …

A physical activity program dedicated to adolescents

2014

Adolescence is a life stage in which the development of individuality and self-identity occurs. The recent study of the SIP evaluated the life style in adolescents, highlighting the low participation to continuative sports programs and the high incidence to sports drop out, interesting more than 30% of adolescents. These problems are partially linked to low compliance of adolescents to coaches training, partially to the request of a sport close to adolescents requirements. However sports participation is beneficial for physical and psychological development of adolescents. Sports programs promote responsible social behaviours and greater academic success, confidence in personal physical abi…

Intra- and Juxta-Articular Osteoid Osteoma Mimicking Arthritis: Case Series and Literature Review

2023

Background: Intra- and juxta-articular osteoid osteomas are rare, representing less than 10% of all osteomas. Compared to the classic diaphyseal or metaphyseal site of long bones, they often have an atypical onset, a longest diagnostic delay, and frequent initial misdiagnoses, with pictures that can mimic inflammatory monoarthritis. We aimed to describe a case series, and to provide a literature review of this uncommon and misleading tumor location. Methods: We performed a retrospective analysis of patients referred to three pediatric rheumatology centers, with a final diagnosis of articular osteoid osteoma. A review of the literature was additionally conducted. Results: We included 10 pati…

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

2017

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

2019

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.

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

2017

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).

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

2015

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…

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

2020

Objective. To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods. Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results. 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in …

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…

2020

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…

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

2019

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…

Disease status, reasons for discontinuation and adverse events in 1038 Italian children with juvenile idiopathic arthritis treated with etanercept

2016

Background: Data from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN). Methods: In 2013, all centers of the Italian Pediatric Rheumatology Study Group were asked to make a census of patients given ETN after January 2000. Patients were classified in three groups: group 1 = patients still taking ETN; group 2 = patients discontinued from ETN for any reasons; group 3 = patients lost to follow-up while receiving ETN. All three…

The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

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

2019

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>C (E148Q), which is typical of…

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

2023

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…

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

2016

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,…

JUVENILE IDIOPATHIC ARTHRITIS AND FITNESS: A TEAMWORK

2018

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 …

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

2017

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.

Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.

2012

<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. <b><i>Patients and Design:</i></b> We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…

DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling

2021

Introduction: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated to a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: Here, we report on four patients with pathogenic variations in DNASE1L3, including 2 previously undescribed causal variants, and expand the phenotype from SLE to vasculitis with gut involvement. To explore whether or not the interferon cascade was strongly and sustainably induced, Interferon stimulated genes (ISGs) expression was assessed for each patient. …

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

2018

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…

Interleukin-6 Is a Promising Marker of COVID-19 in Children: A Case Series of 2 Brothers with Severe COVID-19 Pneumonia.

2022

BACKGROUND To date, Coronavirus disease 2019 (COVID-19) remains a global health concern, with fatalities mostly in older age groups with underlying medical conditions, while children are less likely to manifest severe symptoms. CASE REPORT We describe the clinical cases of 2 brothers admitted to our Children's Hospital for persistent fever and cough during the COVID-19 pandemic. Case 1. A 1.5-year-old boy had fever, expiratory dyspnea, desaturation, oxygen saturation 94-96% with O2, and bilateral hissing and crackling rales. His interleukin-6 level in the acute phase of the disease was 100.41 and at the resolution it was 46.2 pg/ml. Treatment with amoxicillin plus clavulanic acid, methylpre…

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

2019

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…

Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Ad…

2022

ObjectiveAim of this paper is to illustrate the methodology, design, and development of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to patients with the Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome.MethodsThis is a physician-driven, non-population- and electronic-based registry proposed to gather real-world demographics, clinical, laboratory, instrumental and socioeconomic data from PFAPA patients. Data recruitment is realized through the on-line Research Electronic Data Capture (REDCap) tool. This registry is thought to collect standardized information for clinical research leading to solid real-life evidence. Th…

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

2021

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…

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

2017

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…

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated perio…

2015

Abstract TNFR-associated periodic syndrome is an autoinflammatory disorder caused by autosomal-dominant mutations in TNFRSF1A, the gene encoding for TNFR superfamily 1A. The lack of knowledge in the field of TNFR-associated periodic syndrome biology is clear, particularly in the context of control of immune self-tolerance. We investigated how TNF-α/TNFR superfamily 1A signaling can affect T cell biology, focusing on conventional CD4+CD25− and regulatory CD4+CD25+ T cell functions in patients with TNFR-associated periodic syndrome carrying either high or low penetrance TNFRSF1A mutations. Specifically, we observed that in high penetrance TNFR-associated periodic syndrome, at the molecular le…

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

2018

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…

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

2019

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.

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

2017

Persistence of disease flares is associated with an inadequate colchicine dose in familial Mediterranean fever: A national multicenter longitudinal s…

2021

Familial Mediterranean fever (FMF) is characterized by self limited episodes of fever and polyserositis.1 MEFV gene en codes for a protein named Pyrin, which plays a pivotal role in the activation and secretion of IL-1.2 Daily colchicine is highly effective in preventing attacks in this disorder in a dose-related fashion.3 Many definitions of colchicine resistance are available in the literature. The European League Against Rheumatism (EULAR) guidelines defined resistance as one or more attacks per month in compliant patients who had been receiving the maxi mally tolerated dose for at least 6 months.4 A similar definition was confirmed by a recent consensus among experts.5 In the present na…

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

2017

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…

Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

2019

Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile …

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 RI…

2021

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…

Development and Implementation of the AIDA International Registry for Patients With Undifferentiated Systemic AutoInflammatory Diseases

2022

ObjectiveThis paper points out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients affected by Undifferentiated Systemic AutoInflammatory Diseases (USAIDs).MethodsThis is an electronic registry employed for real-world data collection about demographics, clinical, laboratory, instrumental and socioeconomic data of USAIDs patients. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is designed to obtain standardized information for real-life research. The instrument is endowed with flexibility, and it could change over time according to the scientific acquisitions an…

Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and manag…

2018

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…

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

2017

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

2017

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…

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

2018

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…

Un esordio atipico di malattia di Behçet

2021

Introduzione: La malattia di Behçet è una vasculite sistemica caratterizzata da ulcere orali e genitali associate a manifestazioni cutanee, oculari, articolari, gastrointestinali e neurologiche. Per avere un quadro clinico che confermi la diagnosi, spesso età adulta. Tipicamente i pazienti affetti esprimono HLA B51 e HLA B57. In questo lavoro presentiamo un esordio peculiare di malattia di Behçet [1]. Materiali e Metodi: Descriviamo il caso di un bambino di nove anni con uveite anteriore bilaterale recidivante, cefalea e paralisi periferica del VII nervo cranico destro. Nel sospetto di patologia neuroimmunologica sono stati eseguiti Angio-RMN, RMN encefalo, esame del liquor e ricerca HLA. s…

Metabolic bone disease and osteoporosis in children

2016

To understand the basics of pediatric bone metabolism and mechanisms underlying osteoporosis.

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

2013

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…

Un caso di malattia di Kawasaki refrattaria

2021

Evaluation of the disease course of Italian children with juvenile idiopathic arthritis treated with etanercept: preliminary results in 772 patients

2014

The advent of biologic medications has considerably increased the potential for treatment benefit in juvenile idiopathic arthritis (JIA), with clinical remission being now achievable in a substantial proportion of patients.

Infliximab administration effective in the treatment of refractory Kawasaki Disease

2010

Idiopathic Seidlmayer's Purpura: A Case Report

2014

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.

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

2021

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…

Parametri di laboratorio tradizionali e nuovi biomarcatori nella sindrome da attivazione macrofagica e nella linfoistiocitosi emofagocitica secondaria

2021

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

2020

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 …

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

2019

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…

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

2017

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 …

Development and initial validation of a composite disease activity score for systemic juvenile idiopathic arthritis

2020

Made available in DSpace on 2021-06-25T10:38:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-11-01 Healthway Objective. To develop a composite disease activity score for systemic JIA (sJIA) and to provide preliminary evidence of its validity. Methods. The systemic Juvenile Arthritis Disease Activity Score (sJADAS) was constructed by adding to the four items of the original JADAS a fifth item that aimed to quantify the activity of systemic features. Validation analyses were conducted on patients with definite or probable/possible sJIA enrolled at first visit or at the time of a flare, who had active systemic manifestations, which should include fever. Patients were reassessed 2 wee…

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

2018

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…

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

2017

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…

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

2017

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…

Nuovi percorsi e modalità assistenziali nel follow up di pazienti con deficit di GH in trattamento sostitutivo durante la pandemia da Sars Cov2

2021

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…

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

2014

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…

Risk factors for refractory Kawasaki disease: clinical records of the paediatric clinic of palermo

2014

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.

Rickets as Precocious Sign of Celiac Disease

2016

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

2019

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…

Genetic and clinical profile of a paediatric population with FMF in Sicily

2017

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.

THE USE OF INTERLEUKIN 1 RECEPTOR ANTAGONIST (ANAKINRA) IN KAWASAKI DISEASE: A RETROSPECTIVE CASES SERIES

2018

Introduction: Persistent fever and inflammation after infusion of 2g/kg of IVIG, the standard treatment of KD represents a high-risk situation for coronary aneurysms in Kawasaki disease. Identifying patients at risk for IVIG resistance is difficult outside the Asian population, and there remains a critical unmet need to identify an anti-inflammatory treatment that is efficacious in all KD patients. Recent evidence from studies in animals and humans suggest a critical role for interleukin-1 (IL-1) α and β in the pathogenesis of KD. Objectives: To identify the clinical characteristics, reasons for use and response to treatment with anakinra in a retrospective series of patients with Kawasaki …

Efficacy and safety of tocilizumab in adult-onset Still's disease: Real-life experience from the international AIDA registry

2022

© 2022 Elsevier Inc.Background/objectives: Long-term efficacy and safety of tocilizumab (TCZ) in adult-onset Still's disease (AOSD) mostly derive from small case series. Herein we report a registry-based study investigating TCZ efficacy and safety in a cohort of patients with AOSD evaluated by clinical and serum inflammatory markers as well as drug retention rate analysis. Methods: This is an international multicentre study analyzing data from patients with AOSD regularly enrolled in the AIDA registry. TCZ efficacy was evaluated between baseline and last follow-up assessment in terms of changes in the Pouchot score and laboratory findings. Drug-retention rate was estimated by the Kaplan-Mei…

Revised recommendations of the Italian Society of Pediatrics about the general management of Kawasaki disease

2021

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…

Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome-Therapeutic Outcome and Predictors of Response:…

2021

Objective: To describe the role of biotechnological therapies in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and to identify any predictor of complete response.Methods: Clinical, laboratory, and therapeutic data from 44 Caucasian TRAPS patients treated with biologic agents were retrospectively collected in 16 Italian tertiary Centers.Results: A total of 55 biological courses with anakinra (n = 26), canakinumab (n = 16), anti-TNF-α agents (n = 10), and tocilizumab (n = 3) were analyzed. A complete response was observed in 41 (74.5%) cases, a partial response in 9 (16.4%) cases and a treatment failure in 5 (9.1%) cases. The frequency of TRAPS exacerbation…

THE “SALT-TASTING” NEWBORN

2021

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…

Comparison of Postural Features and Muscle Strength between Children with Idiopathic Short Stature and Healthy Peers in Relation to Physical Exercise

2020

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…

A case of Kawasaki disease mimicking acute appendicitis

2007

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…

Pediatric Recurrent Pericarditis: Appropriateness of the Standard of Care and Response to IL-1 Blockade

2022

Objective: To analyze, in a cohort of pediatric patients with recurrent pericarditis undergoing anti-interleukin (IL)-1 treatment: the agent and dosing used as first-line treatment, the long-term efficacy of IL-1 blockers, the percentage of patients achieving a drug-free remission, and the presence of variables associated with drug-free remission. Study design: Data were collected from patients' charts. The annualized relapse rate (ARR) was used for evaluation of treatment efficacy, and bivariate logistic regression analysis was used for variables associated with drug-free remission. Results: Fifty-eight patients, treated between 2008 and 2018, were included in the study (mean follow-up. 2.…

MODELLO DI PREVISIONE DELLA STATURA FINALE IN PAZIENTI PEDIATRICI ITALIANI AFFETTI DA DEFICIT DI GH TRATTATI CON SOMATROPINA

2021

Obiettivi: elaborare un modello di previsione della statura finale in pazienti pediatrici con deficit di GH trattati con somatropina ricombinante, valutando quali siano le variabili più importanti nel determinismo della statura finale. Metodi: 1043 pazienti trattati per deficit di GH (picco di GH &lt;10 ng/dl a 2 test di stimolo) giunti ad altezza finale. Mediana età a inizio trattamento 11 (IQR 8.7/12.8) anni; mediana altezza a inizio trattamento -2.43 (IQR -2.80/-2.01) SDS; mediana altezza bersaglio -1.09 (IQR -1.63/-0.48) SDS; dose iniziale di somatropina mediana altezza finale -1.08 SDS (IQR -1.64/-0.50 SDS, vs altezza a inizio trattamento p &lt;0.001, vs altezza bersaglio p=ns). Analis…

SHOX Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

2018

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 …

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

Gluten-free diet impact on leptin levels in asymptomatic coeliac adolescents: one year of follow-up.

2006

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…

Serum leptin and interleukin-6 levels in pediatric patients with HIV.

2003

Recent therapeutic approaches have improved the prognosis of children with HIV. Many new efforts could be involved in their quality of life and therefore could need additional diagnostic strategies. Leptin regulates pubertal development; furthermore a continuous immune stimulus, as in chronic infectious diseases, can enhance leptin's secretion by the action of cytokines such as interleukin (IL)-6. To clarify this role in patients infected with HIV, we assayed leptin and IL-6 and evaluated the influence of HIV severity on its secretion. IL-6 (380.5 +/- 257.6 pg/ml; range: 22-900 pg/ml) showed a significant correlation with leptinemia, HIV-1 RNA, and viremia related to the stage of HIV diseas…

Typical Kawasaki disease with atypical pneumonia: a paediatric case report.

2020

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

2019

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…

Un caso inusuale di anemia emolitica

2007

Infezione da EBV e malattia di Stevens-Johnson.

2008

UNA STRANA RECIDIVA DI “MALATTIA DI KAWASAKI"

2010

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

2009

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

2005

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

2010

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

2014

Sport e patologie croniche: cosa fare ?

2012

ACROCEPHALIA AND SYNDACTYLY IN A NEW BORN

2005

Un caso inusuale di malattia emolitica.

2007

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

2009

UNA STRANA FORMA DI PSEUDOCCLUSIONE INTESTINALE

2007

TROMBOSI VENOSA PROFONDA DA ESTROPROGESTINICI IN TETRASOMIA X

2009

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

2012

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

2005

RABDOMIOLISI IN CORSO DI INFEZIONE DA VIRUS PARAINFLUENZALE TRATTATA CON PARACETAMOLO

2009

Precocious puberty in Costello syndrome: case report.

2012

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…

DEVELOPMENT AND INITIAL VALIDATION OF THE SYSTEMIC JADAS, A NEW COMPOSITE DISEASE ACTIVITY SCORE FOR SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS

2019

Background: Juvenile Arthritis Disease Activity Score (JADAS) has gained increasing popularity for the measurement of the level of disease activity in patients with juvenile idiopathic arthritis (JIA). However, so far the JADAS has been validated only in children with the non-systemic categories of JIA. Objectives: To develop and validate the systemic JADAS (sJADAS), a new version of the JADAS specific to systemic JIA (sJIA). Methods: The sJADAS is made up by adding a fifth item, named Systemic Manifestation Score (SMS), to the four items included in the original tool (physician global assessment of disease activity, parent/patient global assessment of well-being, active joint count and ery…

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

2012

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…

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

2007

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

2014

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

2017

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

2009

INSULINORESISTENZA IN PAZIENTI CON INSUFFICIENZA RENALE CRONICA IN ETA’ PEDIATRICA

2010

Neonatal presentation of Prader Willi sindrome. Personal records.

2007

Fattori di rischio per doping in popolazione giovanile.

2012

Sclerodermia sistemica: descrizione di un caso in età pediatrica.

2007

Impaired energy expenditure and physical activity in children affected by GH deficiency measured by SenseWear Armband: preliminary results.

2012

Background: Influence of growth hormone on energy expenditure and physical performance is clearly known. Objective and hypotheses: The aim of our study is to evaluate the energy expenditure (EE) during physical (PA) and sedentary activities (SA), in a group of children/adolescents affected by growth hormone deficiency (GHD) compared to healthy subjects, using an objective measure as SenseWear Armband (SWA-BodyMedia). Patients, methods and results: These preliminary data included 13 untreated, consecutive GHD children and adolescents (6 males) (GH peak 3 Mets) (1.5 ±0.8 vs 2.3±1 h/d), especially moderate (3-6 Mets)(1.4±0.8 vs 2.2±0.9 h/d; 5.8±3.1 vs 9.2±3.9% of daily hours) compared with hea…

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

2009

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

2004

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

2011

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

2007

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

2006

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

2011

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

2006

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

2005

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

2009

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

2011

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

2006

MALATTIA DI KAWASAKI: MODALITA’ DI ESORDIO E DECORSO CLINICO

2007

Hypogonadotropic hypogonadism in Kabuki syndrome: the story of two adolescents

2007

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

2011

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

2012

Terapia con inibitori dell'IL-1 in pazienti con mutazioni di malattie autoinfiammatorie a bassa penetranza: una casistica dall'età pediatrica al giov…

2017

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

2012

MICROLITIASI TESTICOLARE BILATERALE IN SINDROME ADRENOGENITALE LATE ONSET

2006

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

2005

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

2012

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

2011

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

2011

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

2008

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

2012

TIROIDITE AUTOIMMUNE IN FENILCHETONURIA: DESCRIZIONE DI UNA NUOVA ASSOCIAZIONE

2011

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

2007

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

2011

Additional file 2 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during S…

2021

Additional file 2: Appendix 2. Clinical comparison between Kawasaki Disease patients seen during SARS-CoV-2 epidemic and a Historical Cohort of Kawasaki Disease Patients.

Pulmonary tuberculosis in Italian children by age at presentation

2004

Apoptosi linfocitaria CD95 e trail mediata in pazienti con pubertà precoce

2007

Adolescenti con celiachia asintomatica e livelli plasmatici di Leptina, FSH, LH: markers endocrini e predittori di una corretta adesione alla dieta C…

2004

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

2010

ADIPONECTIN, LEPTIN, RESISTIN LEVELS IN CYSTIC FIBROSIS ADOLESCENTS

2012

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 ?

2014

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

2011

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

2011

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

2014

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

2009

The characteristics of patients with COVID-19-associated pediatric vasculitis: an international, multicenter study

2023

Objective: COVID-19-associated pediatric vasculitis, other than Kawasaki disease (KD)-like vasculitis in multisystem inflammatory syndrome in children (MIS-C), is very rare. This study sought to analyze the characteristics, treatment, and outcomes in patients with COVID-19-associated pediatric vasculitis (excluding KD-like vasculitis in MIS-C). Methods: The inclusion criteria were as follows: 1) age <18 years at vasculitis onset; 2) evidence of vasculitis; 3) evidence of SARS-CoV-2 exposure; and 4) ≤3 months between SARS-CoV-2 exposure and vasculitis onset. Patients with MIS-C were excluded. The features of the subset of patients in our cohort who had COVID-19-associated pediatric IgA vascu…

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

2006

L’alta statura è davvero un problema?

2004

Policistosi ovarica e gonadoblastoma in sindrome di Turner SRY positiva

2005

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

2014

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

2010

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

2011

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

2006

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

2012

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

2007

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

2006

IL DEFICIT DI GH IN EPOCA NEONATALE: INQUADRAMENTO CLINICO E DIAGNOSTICO

2011

Il deficit neonatale di GH è una patologia endocrina rara, clinicamente grave, la cui identificazione diagnostica richiede l'integrazione multidisciplinare di competenze specifiche neonatologiche ed endocrinologiche pediatriche. La diagnosi tempestiva e il successivo intervento terapeutico precoce sono determinanti sulla prognosi a breve e lungo termine di questi piccoli pazienti.

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

2009

GROWTH HORMONE TREATMENT IN A PATIENT WITH LANGER MESOMELIC DYSPLASIA

2011

Dalla FUO alla sindrome da iper-IgD (HIDS).

2008

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

2009

Additional file 1 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during S…

2021

Additional file 1: Appendix 1.

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

2005

IL-1 BLOCKADE IN PEDIATRIC RECURRENT PERICARDITIS: A MULTICENTRIC RETROSPECTIVE STUDY ON THE ITALIAN COHORT

2019

Background: Acute pericarditis is an inflammatory condition causing the occurrence of pericardial effusion. In a third of patients, the disease is recurrent. Most of the cases are idiopathic or occur after a pericardial procedure. First line treatment of idiopathic pericarditis consists in NSAIDs and colchicine; glucocorticoids represent the second line treatment in resistant or intolerant cases. The use of different biologics and immunosoppressant has been reported, with variable responses. A recent clinical trial has enlightened the effectiveness of anakinra in patients with colchicine-resistant recurrent pericarditis. Objectives: To describe the clinical characteristics and response to t…

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

2006

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

2010

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

2012

EDEMA EMORRAGICO ACUTO DEL LATTANTE: DESCRIZIONE DI UN CASO

2009

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

2009

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

2014

Prevalenza tiroidite autoimmune in una popolazione di bambini e adolescenti diabetici vs diabetici celiaci

2007

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

2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

2014

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

2007

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

2004

Pseudoipoaldosteronismo transitorio in pretermine

2004

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

2014

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

2012

APLOINSUFFICIENZA DEL GENE SHOX E TRATTAMENTO CON RHGH IN ETÀ EVOLUTIVA: STUDIO MULTICENTRICO

2011

Mycoplasma Pneumoniae: analisi di una casistica annuale.

2008

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

2010

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

2012

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

2014

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

2014

Transitional care of young people with juvenile idiopathic arthritis in Italy: results of a Delphi consensus survey

2018

OBJECTIVES: To present the results of a Delphi consensus survey among Italian paediatric and adult rheumatologists on transitional care (TC) of young people (YP) with juvenile idiopathic arthritis (JIA). METHODS: A taskforce of 27 paediatric and adult rheumatologists evaluated the applicability of the 2016 EULAR/PReS recommendations for TC to the Italian rheumatology practice and healthcare system and formulated additional country-specific statements aimed to increase their suitability. After a two-round discussion, applicability of EULAR/PReS recommendations and agreement with newly-proposed statements were voted on a 0-10 scale (where 0 = no applicability/agreement and 10 = total applicab…

Autoimmune thyroiditis and phenilketonuria: a new association

2011

IRSUTISMO SEVERO IN SINDROME DI KABUKI: DESCRIZIONE DI UN CASO

2006

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

2005

American College of Rheumatology Provisional Criteria for Clinically Relevant Improvement in Children and Adolescents With Childhood-Onset Systemic L…

2019

OBJECTIVE: To develop a Childhood Lupus Improvement Index (CHILI) as a tool to measure response to therapy in childhood-onset systemic lupus erythematosus (cSLE), with a focus on clinically relevant improvement (CRIc SLE ). METHODS: Pediatric nephrology and rheumatology subspecialists (n = 213) experienced in cSLE management were invited to define CRIc SLE and rate a total of 433 unique patient profiles for the presence/absence of CRIc SLE . Patient profiles included the following cSLE core response variables (CRVs): global assessment of patient well-being (patient-global), physician assessment of cSLE activity (MD-global), disease activity index score (here, we used the Systemic Lupus Eryt…

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

2011

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

2011

Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry

2023

AbstractThis study aims to describe musculoskeletal manifestations (MSM) in children with Behçet’s syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet’s Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (…

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

2014

Un caso di sindrome di Mauriac nel 2007

2008

TERAPIA CON SURFACTANTE PER VIA AEROSOLICA NELL’INALAZIONE DA BOROTALCO

2009

THE EFFECTS OF PHYSICAL FITNESS ON CHILDREN WITH PREVIOUS NEOPLASIA

2013

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…

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

2009

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

2006

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

2008

Infliximab administration effective in the treatment of refractory Kawasaki Disease

2010

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

2009

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

2011

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

2014

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

2004

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

2014

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

2012

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

2005

Additional file 4 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during S…

2021

Additional file 4: Appendix 4. Clinical comparison between Kawasaki Disease patients seen during SARS-CoV-2 in high epidemic regions (Piedmont and Lombardy) and Kawasaki Disease Patients in low epidemic regions.

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

2006

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

2006

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

2015

ipoplasia emisferica, DDMS, dilatazione ventricolare

Malattia di Kawasaki: un caso veramente "atipico"

2014

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

2004

ADOLESCENTE CON DATTILITE DELLE MANI DA INFEZIONE DA HELICOBACTER PYLORI

2009

Enhanced 17hydroxyprogesterone levels in children with multiple sclerosis receving glatiramer

2009

Esordio precoce di febbre mediterranea familiare in paziente con triplice mutazione

2012

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

2005

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

2005

Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up

2013

We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.

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

2017

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

2017

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

2004

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

2017

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

2014

Complicanze endocrine nella talassemia: studio di 256 pazienti

2005

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

2014

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

2014

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

2012

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

2008

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

2005

Adolescenti con celiachia asintomatica e livelli plasmatici di Leptina, FSH, LH: markers endocrini e predittori di una corretta adesione alla dieta

2004

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

2012

Follow up auxologico, BMI ed assetto endocrino in bambini con ipotiroidismo congenito: esperienza della clinica pediatrica di Palermo

2014

Un caso di pericardite recidivante colchicina-resistente

2023

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…

Mycoplasma Pneumoniae e neuropatia periferica.

2008

Idatidosi polmonare in età pediatrica: descrizione di un caso.

2008

[Fetal pseudohypoaldosteronism: rare cause of hydramnios].

2005

PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.

Patologia Muscolare Autoimmune: dermatomiosite. La nostra casistica.

2017

Additional file 5 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during S…

2021

Additional file 5: Appendix 5. Comparison of laboratory tests between Kawasaki Disease patients seen during SARS-CoV-2 in high epidemic regions (Piedmont and Lombardy) and Kawasaki Disease Patients in low epidemic regions.

Isolated childhood growth hormone deficiency: a 30-year experience on final height and a new prediction model

2022

Purpose We aimed to evaluate the near-final height (nFHt) in a large cohort of pediatricpatients with growth hormone deficiency (GHD) and to elaborate a new predictive method of nFHt. Methods We recruited GHD patients diagnosed between 1987 and 2014 and followed-up until nFHt. To predict the values of nFHt, each predictor was run in a univariable spline. Results We enrolled 1051 patients. Pre-treatment height was -2.43 SDS, lower than parental height (THt) (-1.09 SDS, p &lt; 0.001). The dose of recombinant human GH (rhGH) was 0.21mg/kg/week at start of treatment. nFHt was -1.08 SDS (height gain 1.27 SDS), higher than pre-treatment height (p &lt; 0.001) and comparable to THt. 1.6% of the pat…

Pseudoermafroditismo maschile con completo sex reverse: studio clinico, endocrinologico e genetico molecolare di 33 pazienti

2005

La porpora di Seidlmayer: descrizione di cinque casi

2014

EVALUATION OF SERUM LEVELS OF ASC FOR THE DIAGNOSIS AND MONITORING OF CRYOPYRIN ASSOCIATED PERIODIC SYNDROMES (CAPS)

2019

Background: Dominantly gain-of-function mutations in the NLRP3 gene lead to Cryopyrin associated periodic syndromes (CAPS) characterized by constitutive activation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. IL-1beta and active caspase-1 subunits are released in the serum together with the oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) after activation of the inflammosome complex and, as a consequence, patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: Patients suffering from CAPS are characterized by clinical manifestation si…

Deficit di 17-alfa-idrossilasi: follow up sino alla statura definitiva

2005

Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study.

2019

Objective-The aim of the study is to evaluate the compliance rate to secondary prophylaxis and the presence of Rheumatic Heart Disease (RHD) in a cohort of Italian patients with Acute Rheumatic Fever (ARF). Methods-This is a multicentre retrospective study. Patients were divided into two groups according to the presence or absence at last follow-up of RHD. Clinical features, ARF recurrences and the rate of compliance to secondary prophylaxis were evaluated. Results-wo hundred and ninety patients were enrolled (137 females, 153 males). Carditis at onset was present in 244 patients (84.7%). At the end of follow-up, 173 patients showed RHD. Adherence to secondary prophylaxis was low in 26% of …

Echinococcosi polmonare: un caso clinico

2008

Ipotiroidismo in sindrome di Crigler-Najjar di tipo 2 ed eterozigoti per sindrome di Gilbert: quando l’ittero non può regredire.

2005

Malattia di Kawasaki: modalità di esordio e decorso clinico

2007

Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

2017

Lo scorbuto in età pediatrica: descrizione di due casi recenti

2008

Sindrome Nefrosica Congenita di tipo Finlandese ed ipotiroidismo: descrizione di un caso

2004

ADOLESCENTI IMMIGRATE E SINDROME DI TURNER: PROBLEMATICITA’ DI UN FOLLOW UP E DI UNA TERAPIA CRONICA IN DIFFERENTI ETNIE

2006

FOLLOW UP DI UN CASO DI SINDROME DI COSTELLO CON PUBERTA’ PRECOCE

2011

Terapia con Mecasermina in un bambino con iperinsulinismo congenito da mutazione INS-R

2017

DIAGNOSI E PROGNOSI DELLA MALATTIA DI KAWASAKI FRA MARKERS EMATOCHIMICI E CLINICI

2012

Pelvic magnetic resonance imaging in Turner syndrome.

2012

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…

UNA NUOVA MUTAZIONE DEL GENE CREBBP IN UN BAMBINO CON SINDROME DI RUBINSTEIN TAYBI

2009

UN CASO INUSUALE DI ANEMIA EMOLITICA

2007

Fibrosi cistica e tolleranza glucidica: esperienza del Centro Regionale di Palermo

2007

SCLERODEMIA SISTEMICA: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA

2007

INFEZIONE DA MICOPLASMA ED ANEMIA EMOLITICA: DA TRIGGER AD INDUTTORE DI AUTOIMMUNITA'

2011

Insulin resistance in paediatric patients with mild-moderate chronic renal insufficiency

2010

Irsutismo in sindrome microcefalia con sinostosi radio-ulnare: prima segnalazione di una associazione

2005

Additional file 3 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during S…

2021

Additional file 3: Appendix 3. Laboratory comparison between Kawasaki Disease patients seen during SARS-CoV-2 epidemic and a Historical Cohort of Kawasaki Disease Patients.

"Un mare di bambini": progetto pilota condiviso LNI-SIP

2014

DOWN REGULATION OF LYMPHOCYTES APOPTOSIS IN GIRLS WITH PRECOCIOUS PUBERTY

2011

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…

Prognosi neurocognitiva in bambini ELBW: a quale età ?

2007