Search results for " Specialist"

Frequenza e fenotipo delle mutazioni GJB2 in pazienti con ipoacusia neurosensoriale non-sindromica congenita: analisi di una coorte della Sicilia Occ…

Circa il 60% delle ipoacusie congenite sono associate a cause genetiche nei paesi sviluppati. La sordità genetica è classificata in sindromica (30%) e non sindromica (70%), quest’ultima riconducibile in più del 50% dei casi a mutazioni del gene GJB2. Tale gene, espresso nella coclea, codifica per la proteina gap junction “Connessina 26”, la cui funzione è cruciale per la comunicazione intercellulare. L’obiettivo del nostro lavoro è stato quello di stimare la frequenza delle mutazioni GJB2 e la loro correlazione con il fenotipo audiologico in 102 pazienti siciliani affetti da sordità neurosensoriale congenita non sindromica (NSHL) bilaterale e portatori di almeno una mutazione del gene GJB2.…

Acute pancreatitis in children. An Italian multicentre study

2002

Abstract Aim . To evaluate the clinical, morphological and aetiological aspects of acute pancreatitis in children in Italy. Patients . The hospital records of 50 consecutive patients with acute pancreatitis observed in 5 Italian Pediatric Departments were reviewed. Results . A total of 25 males and 25 females (median age 10.5 years, range 2–17) were studied. Of these patients, 48 (96%) had abdominal pain. The pancreatitis was associated with biliary disease in 10 patients (20%); it was due to viral infection in 6 patients (12%), pancreatic duct abnormalities in 4 (8%), familial chronic pancreatitis in 3 (6%), trauma in 5 (10%) and other causes in 5 (10%); the pancreatitis was of unknown ori…

Implementare le politiche sanitarie a livello regionale per l'eliminazione dell'epatite C ai tempi del COVID-19

2022

Viral hepatitis C is an important public health problem and its elimination by 2030, defined by the World Health Organization, is an ambitious goal. The chance of free screening for HCV infection represents an important achievement that requires a successful State-Regions coordination and an effective regional organisation, that guarantees an interdisciplinary course between local and specialized healthcare. A structured communication program to increase the sensitivity of target populations as well as health professionals is the key for success. The implementation of the proactive screening, defined by the Milleproroghe Law, is crucial because it will define the tracks for the whole HCV co…

De novo GRIN2A variants associated with epilepsy and autism and literature review

2021

N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…

EDEMA EMORRAGICO ACUTO DEL LATTANTE: DESCRIZIONE DI UN CASO

2009

The long QT syndrome in pediatric age: Prognosis and risk factor

2008

AIM: Long QT syndrome is a rare arrhythmic disease with a low incidence in the general population. There are no sure clinical or electrocardiographic parameters that could lead to a correct prognostic stratification in patients affected by this syndrome. The correlation between the incidence of a sudden death or dangerous ventricular arrhythmias and the duration of QTc interval is still a controversial topic. METHODS: Twenty nine children affected by QT long syndrome were admitted to the Division of Pediatric Cardiology of the Casa del Sole Hospital of Palermo (Italy). Their diagnosis was made by electrocardiogram (ECG). The average age of the patients was 7.6 years. The average follow-up w…

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…

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

2002

A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was prese…

Environmental risk factors and lung diseases in children: From guidelines to health effects

2013

Abstract During the last decades research all over the world has highlighted the deleterious effects of outdoor and indoor pollution on respiratory health of adults and children. The World Health Organization (WHO) “ Air quality guidelines for Europe ” played a fundamental role in providing information and guidance to authorities involved in the air pollution field and they are considered the key source on which the European Commission's directive on air quality is based. Children appear to be most vulnerable to the harmful effects of outdoor pollutants, which can cause both acute exacerbations, as well as chronic respiratory symptoms and diseases. Possible mechanisms include the induction …

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…