Search results for "38"
showing 10 items of 1730 documents
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…
A national multicentre study on severe paediatric recurrent idiopathic pericarditis treated with IL-1 blockers: appropriateness of the standard of ca…
2020
Recurrent pericarditis (RP) is a rare cause of morbidity in children. Non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids and colchicine are the standard of care in adults. Recently, anakinra has been proven to be effective in patients with steroid-dependence and colchicine resistance.
MULTIPLE PREGNANCY NEWBORN BABIES
2009
LO SCREENING PER L’IPOTIROIDISMO CONGENITO: DATI RETROSPETTIVI DEGLI ULTIMI 5 ANNI IN UN SINGOLO CENTRO
2018
Introduzione: L’incidenza dell’ipotiroidismo congenito (IC) in Italia varia da 1:2000-1:3000 nati. Il numero delle diagnosi è aumentato da quando il cut-off per il TSH su spot è stato ridotto, rispetto al valore di 10. Obiettivi: Lo studio si prefigge di raccogliere i dati del Centro Screening Neonatale dell’Ospedale dei Bambini “G. Di Cristina”, ARNAS Palermo, al quale pervengono i prelievi di tutti i nati nella Sicilia occidentale, al fine di valutare l’incidenza dell’IC. Materiali e Metodi: Da gennaio 2013 a dicembre 2017, sono stati screenati 79.699 neonati, tramite determinazione del TSH su spot. I neonati con TSH 6mU/L sono stati richiamati per dosare fT4, fT3, TSH, Ab anti-TG e anti-…
MANIFESTAZIONI ADDOMINALI E GONADICHE NELLA PORPORA DI SCHÖNLEIN-HENOCH: ESTRAPOLAZIONE DALLA CASISTICA DELLA CLINICA PEDIATRICA DI PALERMO
2011
MVK E DEFICIT ACCRESCITIVO IN BAMBINA NATA SGA
2019
I pazienti in età evolutiva affetti da Deficit di Mevalonato kinasi (MVK), caratterizzato nelle forme clinicamente più gravi da alterazioni neurologiche, ritardo psicomotorio, mancanza di coordinazione dei movimenti, disturbi visivi, possono sviluppare un deficit accrescitivo severo, secondario allo stato infiammatorio. Nei pazienti con S. da iper IgD (HIDS) la crescita è, in genere, garantita e, in caso di bassa statura, vanno escluse altre cause. I pazienti con HIDS, per la parzialità del deficit enzimatico, hanno una clinica più sfumata (febbre ricorrente, linfoadenopatia, dolori addominali, vomito, diarrea, artralgie, cefalea, rash cutanei, ulcere della bocca ed epatosplenomegalia). Des…
The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study
2014
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 …
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.