0000000001103501
AUTHOR
G Corsello
LA NUTRIZIONE PARENTERALE e L'INTESTINO RESIDUO: quale relazione nel decorso dei pazienti con Sindrome da Intestino Corto? Valutazione da una Casistica Nazionale Multicentrica
In età pediatrica la Sindrome da INtestino Corto (SIC), il più delle volte conseguenza di un intervento chirurgico di resezione intestinale massiva, è la più frequente causa di Insufficienza Intestinale (ID). L'esigenza di conoscere la realtà delle SIC ha promosso uno Studio Nazionale Multicentrico retrospettivo ("SIC 91" ) per valutare i casi di SIC osservati dal 1991 al 2001, avvalendosi inoltre dei dati del Network Italiano "Insufficienza Intestinale in Età Pediatrica". I dati preliminari sono già stati presenatti e pubblicati in altra sede ed hanno permesso di esprimere alcune considerazioni iniziali. Gli obiettivi di questo Studio sono quelli di valutare l'outcome dei pazienti in relaz…
Guideline on management of the acute asthma attack in children by Italian Society of Pediatrics
Abstract Background Acute asthma attack is a frequent condition in children. It is one of the most common reasons for emergency department (ED) visit and hospitalization. Appropriate care is fundamental, considering both the high prevalence of asthma in children, and its life-threatening risks. Italian Society of Pediatrics recently issued a guideline on the management of acute asthma attack in children over age 2, in ambulatory and emergency department settings. Methods The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was adopted. A literature search was performed using the Cochrane Library and Medline/PubMed databases, retrieving studies in Englis…
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…