Search results for "38"

Maculopapular rash and fever: a diagnostic challenge to the paediatrician in the COVID-19 pandemic

2021

Introduction: Several clinical conditions can manifest with fever and a maculopapular rash in paediatric age. Although some presentations are benign, others may be medical emergencies, which demand a prompt diagnosis and treatment. Some of the more common causes of fever and maculopapular rash include infectious diseases (Sars-CoV-2, Parvovirus B19; Coxsackie; Epstein-Barr virus infection, Mycoplasma Pneumoniae, etc), hypersensitivity reactions, Autoinflammatory syndromes, vasculitis, Kawasaki disease (KD), autoimmune diseases. Objectives: In the COVID-19 pandemic era these symptoms need a well-organized hospital strategy to rapidly exclude Sars-CoV-2 infection and to distinguish severe and…

SORVEGLIANZA DELLE COLONIZZAZIONI DA CANDIDA SPP. IN TERAPIA INTENSIVA NEONATALE

2016

Candida spp., colonizzazione, UTIN

CUTANEOUS MANIFESTATIONS IN PEDIATRIC COELIAC DISEASE

2013

Effetti dell'allattamento al seno e dell'epoca di introduzione del glutine sullo sviluppo della malattia celiaca

2010

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

2010

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

2014

Adherence to colchicine treatment and colchicine resistance in a multicentric FMF national cohort

2020

Introduction: Colchicine is the standard treatment for Familiar Mediterranean Fever (FMF), however about 5% of patients (pts) experience colchicine resistance. There is no standard definition of colchicine resistance. Recently a panel of experts elaborated a new definition based on a Delphi consensus approach. Objectives: We aim to describe main features of the disease and clinical outcome of a cohort of FMF pts with particular interest on the colchicine resistance and tolerability according to the definitions proposed by the recent consensus.

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

2013

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

2014

Sindrome di di Crigler-Najjar tipo 2: due nuove mutazioni missense nel gene UGT1A1.

2009

La sindrome di Crigler-Najjar (CNS) è una malattia molto rara (prevalenza 1/1.000.000 nati) a trasmissione autosomica recessiva, caratterizzata da un incremento cronico e grave di bilirubina sierica indiretta (non coniugata), dovuta alla parziale (tipo 2) o completa (tipo 1) assenza funzionale dell’enzima epatico glucoronosil transferasi UGT1. La malattia si manifesta in età neonatale con un ittero precoce e intenso, dovuto alla presenza di bilirubina non coniugata e l'esame fisico è nella norma; in epoca di sviluppo gli effetti clinici della CNS tipo 1 sono letali in quanto l’eccesso di bilirubina porta inevitabilmente ad una encefalopatia essendo tale pigmento fortemente liposolubile. Le …