Search results for "PEDIATRIA"
showing 10 items of 692 documents
PROFILO ENDOCRINO, LIVELLI DI ADIPONECTINA, RESISTINA, LEPTINA IN PAZIENTI CON INSUFFICIENZA RENALE CRONICA IN ETA’ EVOLUTIVA
2009
Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry
2023
AbstractThis study aims to describe musculoskeletal manifestations (MSM) in children with Behçet’s syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet’s Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (…
Prevalenza delle mutazioni in GJB2 nella popolazione siciliana affetta da sordità neuro-sensoriale non sindromica
2006
FOLLOW-UP AFTER PEDIATRIC MYRINGOPLASTY: OUTCOME AT 5 YEARS
2014
Aim. The aim of this paper was to evaluate anatomical and functional outcomes 5 years after myringoplasty in children affected by perforated eardrum. To analyze the main differences in the frequency of postoperative complications between patients under and over 9 years of age. Methods. One hundred and thirty-two children, aged from 4 to 15 years, who underwent myringoplasty with or without mastoidectomy, were followed for a five-year period after surgery. The cohort was divided in two groups: children from 4 to 9 years old (G1) and patients older than 9 years (G2); all subjects underwent a pre- and post-operatively clinical exam and were evaluated through audiometry and impedenzometry. Aden…
Screening e post-screening (Audiologia essenziale)
2014
Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and linguistic deficits [1,2,3,4,5,6]. The incidence of bilateral sensorineural hearing loss (SNHL) in Sicily is 2.35 cases per 1000 newborns; this value increases to 2.95 if we consider also unilateral SNHL [2,3] and to 10 cases per 1000 births among infants at risk [7,8,9]. A correct newborn hearing screening programme is based on different protocols depending on the presence/absence of audiologic risk factors: • Newborns without risk factors: [1,2,3] In…
16P11.2 microdeletion/microduplication syndrome: Further characterization of a critical region for neuropsychiatric development
2013
A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.
2011
Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…