Outbreak of ST395 KPC-Producing Klebsiella pneumoniae in a Neonatal Intensive Care Unit in Palermo, Italy

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

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

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with latent transforming growth factor beta-1 (TGF- β1) and anchors it on the cell surface; this anchoring is required for activation of TGF-β1 in macrophages and microglia. We report six individuals from four families with bi-allelic variants in NRROS. All affected individuals had neurodegenerative disease with refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination. The clinical course in affected individuals began with normal development or mild developmental delay, and the onset of seizures occurred within the first ye…

Disabilità Intellettiva, riarrangiamenti genomici, ittioli

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

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

Global health training in paediatric residency programs: the Italian experience

Osservatorio Nazionale Specializzandi Pediatria (ONSP) is an Italian association of residents in paediatrics, and one of its interests is to support paediatric training in developing countries. In 2014, for this purpose, ONSP performed a survey with the aim of describing interest, participation, resources, and obstacles of residents who are involved in global health training within paediatric residency programs. Once the final data were known, an informative brochure was produced for publicizing the results of this survey and the projects that Italian Pediatric Schools have activated in developing countries. 35 of 38 paediatric residency schools (92%) participated in the survey. 67% of them…

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

Sindrome da microduplicazione 17p13.3, palatoschisi

Il neonato dismorfico

La nascita di un neonato è un evento atteso con grande intensità emotiva dalla coppia genitoriale e dalla famiglia e rappresenta ancora oggi un momento di primo approccio clinico essenziale per la valutazione dello stato di salute globale del nuovo nato, nonostante le molteplici metodiche di indagine prenatale che si rendono ogni giorno sempre più disponibili. Il pediatra-neonatologo nei primi giorni di vita presso il centro nascita ed il pediatra di libera scelta nelle settimane successive hanno il compito di valutarne il corretto adattamento alla vita extrauterina, le condizioni cliniche e il benessere fisico. L’evidenza di eventuali alterazioni morfostrutturali, che possono porre anche s…

Indagine SiPPS sulle opinioni dei pediatri sulle vaccinazioni.

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

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

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

SINDROME DI PALLISTER KILLIAN

Candida SPP. Colonization in NICU: A 2-Year Surveillance Study

Introduction: Fungal infections are an important cause of increased morbidity and mortality in infants admitted to neonatal intensive care units (NICUs). In VLBW infants, Candida (C.) albicans is the third most common cause of neonatal late onset sepsis (LOS). The overall incidence of candidemia in NICU is increasing because of the longer survival and the invasive procedures related with the intensive care of extremely preterm infants. Prevention of candidemia in neonates is supported by the identification and adequate management of specific risk factors, including low birth weight, use of invasive devices, prolonged hospitalization and use of broad-spectrum antimicrobial agents. Effective …

QUELLE STRANE CHIAZZE....

Communication about vaccination: A shared responsibility

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

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

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

TUBEROUS SCLEROSIS COMPLEX IN A PATIENT CARRYING AN ATYPICAL GENOMIC REARRANGEMENT

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

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

malformazioni cerebrali, anomalie setto pellucido

Unusual paroxysmal autonomic manifestations in a 22 month old girl

Vaccinazione anti-influenzale dei pediatri nella stagione 2014-2015.

A Snapshot on MRSA Epidemiology in a Neonatal Intensive Care Unit Network, Palermo, Italy

Objectives. We performed a one-year prospective surveillance study on MRSA colonization within the five NICUs of the metropolitan area of Palermo, Italy. The purpose of the study was to assess epidemiology of MRSA in NICU from a network perspective. Methods. Transfer of patients between NICUs during 2014 was traced based on the annual hospital discharge records. In the period February 2014 – January 2015, in the NICU B, at the University teaching hospital, nasal swabs from all infants were collected weekly, whereas in the other four NICUs (A, C, D, E) at four week-intervals of time. MRSA isolates were submitted to antibiotic susceptibility testing, SCCmec typing, PCR to detect lukS-PV and l…

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

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

SORVEGLIANZA DELLE COLONIZZAZIONI DA CANDIDA SPP. IN TERAPIA INTENSIVA NEONATALE

Candida spp., colonizzazione, UTIN

An Unusual Oral Swelling

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

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

No abstract available

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

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

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

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

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

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

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

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

Efficacia della terapia con zonisamide in add-on nel trattamento dell’epilessia farmaco-resistente in un paziente con polimicrogiria e pattern CSWS

Green nail syndrome

Diagnosi precoce di disabilità intellettiva sindromica

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

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

Sindrome da duplicazione 1q21, riarrangimento genomico

Intellectual disabilitiy in developmental age

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

Management of multiple pregnancy with an affected twin

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

SCUOLE DI SPECIALIZZAZIONE IN PEDIATRIA: SURVEY SULLA FORMAZIONE IN PNEUMOLOGIA PEDIATRICA

Decreto interministeriale di riordino delle scuole di specializzazioni mediche cosa cambia nella formazione dei pediatri?

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

late preterm, sviluppo neuropsicomotorio, ponderal index

Il trattamento dei disturbi da comportamento dirompente in età evolutiva

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

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

Specializzazione e Paesi in via di sviluppo: Occasione di una grande esperienza

Sindrome CDG tipo I: un caso ad elevata espressività clinica

European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future

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

NOSOCOMIAL INFECTIONS, EMERGING RESISTANCES SURVEILLANCE, NICU

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

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

Marker cromosomico soprannumerario invdup10)(q10q11.22) de novo in adulto con azoospermia

Nuova mutazione del gene NIPBL in paziente affetto da Sindrome di Cornelia de Lange: report clinico e correlazione genotipo-fenotipo

gene NIPBL, Sindrome Cornelia de Lange

The Increasing Challenge of Multidrug-Resistant Gram-Negative Bacilli: Results of a 5-Year Active Surveillance Program in a Neonatal Intensive Care Unit

Colonization and infection by multidrug-resistant gram-negative bacilli (MDR GNB) in neonatal intensive care units (NICUs) are increasingly reported.We conducted a 5-year prospective cohort surveillance study in a tertiary NICU of the hospital "Paolo Giaccone," Palermo, Italy. Our objectives were to describe incidence and trends of MDR GNB colonization and the characteristics of the most prevalent organisms and to identify the risk factors for colonization. Demographic, clinical, and microbiological data were prospectively collected. Active surveillance cultures (ASCs) were obtained weekly. Clusters of colonization by extended spectrum β-lactamase (ESBL) producing Escherichia coli and Klebs…

An acute headache due a nodulary swell- ing of the skull

Atresia digiuno-ileale tipo apple-peel: raro esordio neonatale di fibrosi cistica

fibrosi cistica, atresia digiuno-ileale, apple-peel

Colonizzazione da Staphylococcus Aureus Meticillino-Resistente (MRSA) in epoca di vita neonatale nell’U.O. Neonatologia e TIN dell’AOUP “P.Giaccone” di Palermo nel periodo 2009 - 2015

Colonizzazione, MRSA, UTIN

The burden of Candida species colonization in NICU patients: a colonization surveillance study

Fungal infections are an important cause of morbidity and mortality in neonatal intensive care units (NICUs). The identifi-cation of specific risk factors supports pre-vention of candidemia in neonates. Effec-tive prophylactic strategies have recently become available, but the identification and adequate management of high-risk in-fants is still a priority. Prior colonization is a key risk factor for candidemia. For this reason, surveillance studies to monitor in-cidence, species distribution, and antifun-gal susceptibility profiles, are mandatory. Among 520 infants admitted to our NICU between January 2013 and December 2014, 472 (90.77%) were included in the study. Forty-eight out of 472 (…

The Coat-Hanger Angle Sign

An infant boy, the second child of healthy parents, was born at 35.5 weeks of gestation by cesarean delivery performed in emergency because of fetal bradycardia and polyhydramnios. At birth his weight was 2770 g (62nd percentile), length 48.3 cm (69th percentile), and head circumference 33.5 cm (64th percentile). Findings of a phys- ical examination showed a broad forehead, a depressed nasal bridge, anteverted nares, a long and protruding philtrum, a high arched palate, retrognathia, joint contractures, and an umbilical hernia. The Apgar score was 6/8 at 1/5 minutes. Because of progressive respiratory distress he required hos- pitalization and noninvasive support ventilation for the first 3…

Dottore, mio figlio non impara a leggere”. I Disturbi Specifici dell’Apprendimento (DSA) e il pediatra di famiglia

Si parla di Disturbo Specifico di Apprendimento (DSA) quando sono presenti delle difficoltà isolate e circoscritte nella lettura (Dislessia) e/o nella scrittura (Disortografia) e/o nel calcolo (Discalculia) nonostante la presenza di adeguate capacità cognitive e opportunità scolastiche. Tali difficoltà hanno carattere evolutivo e persistente, presentandosi con diversa espressività clinica nelle varie fasi dello sviluppo. La prevalenza mondiale del disturbo si attesta tra il 5 e il 15% (DSM 5, 2013). L’incidenza è maggiore nei maschi, con un rapporto M/F stimato intorno a 2:1, 3:1 (DSM 5, 2013). In Italia la stima di prevalenza dei DSA fra i bambini in età scolare oscilla fra il 3 e il 5% (C…