A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations

2015

The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of t…

Parietal subdural empyema as complication of acute odontogenic sinusitis: a case report

2014

Introduction: To date intracranial complication caused by tooth extractions are extremely rare. In particular parietal subdural empyema of odontogenic origin has not been described. A literature review is presented here to emphasize the extreme rarity of this clinical entity. Case presentation: An 18-year-old Caucasian man with a history of dental extraction developed dysarthria, lethargy, purulent rhinorrhea, and fever. A computed tomography scan demonstrated extensive sinusitis involving maxillary sinus, anterior ethmoid and frontal sinus on the left side and a subdural fluid collection in the temporal-parietal site on the same side. He underwent vancomycin, metronidazole and meropenem th…

Psychopathologic disease in patients with tinnitus: a case control of an outpatient cohort

2012

The goal of this work was to study if patients suffering from tinnitus, that affects 14.5% of Italian people, are more susceptible to psychological distress than those who are not affected by tinnitus; to evaluate the prevalence of psychopathological disorders among the cohort, their relationship with the severity of tinnitus and eventual correlation between the distress caused by tinnitus and age of patients. 191 cases and 237 controls were enrolled between 2009-2011. Cases were 80 females and 111 males with mean age of 48.06. Controls were 106 females and 131 males with mean age of 47.09. Overall subjects completed Symptom CheckList-90 R (SCL 90-R) and some brief questionnaire about audio…

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.…

Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

2014

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…

Audiologic profile of OSAS and simple snoring patients: the effect of chronic nocturnal intermittent hypoxia on auditory function

2016

The objective of this work was to study the effect of nocturnal intermittent hypoxia on auditory function of simple snoring patients and subjects affected by OSAS; we compared the audiologic profile with the severity of OSAS to detect early signs of cochlear damage. One hundred-sixty patients underwent overnight polysomnography, micro-otoscopy, multi-frequency audiometry, acufenometry, TEOAE recording and d-ROMs test. All subjects were divided in four groups, based on presence/absence of AHI (simple snoring without OSAS, mild OSAS, moderate OSAS, severe OSAS). Sixty (37.5 %) patients were not affected by OSAS, 58 (36.25 %) presented a mild OSAS, 18 (11.25 %) a moderate OSAS and 24 (15 %) a …

Essential of audiology: screening and postscreening

2014

Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (…

Risk Factors for Sensorineural Hearing Loss and Auditory Maturation in Children Admitted to Neonatal Intensive Care Units: Who Recovered?

2022

Background: Newborns admitted to neonatal intensive care units (NICUs) are at higher risk of developing sensorineural hearing loss (SNHL), which may improve over time. The aim of this study was to describe the prevalence of the main risk factors for SNHL in a NICU cohort, focusing on children who underwent auditory maturation. Methods: An observational study of 378 children admitted to NICUs, who were followed for at least 18 months, with periodic audiologic assessments. Results: Out of 378 patients, 338 had normal hearing and 40 were hearing-impaired; we found a higher percentage of extremely preterm (EPT) and extremely low-birthweight (ELBW) infants in SNHL children (p < 0.05). Sevente…

Fatores que influenciam a ocorrência de otite media entre crianças sicilianas com infecções de vias aéreas superiores

2016

ABSTRACT INTRODUCTION: Upper respiratory tract infection is a nonspecific term used to describe an acute infection involving the nose, paranasal sinuses, pharynx and larynx. Upper respiratory tract infections in children are often associated with Eustachian tube dysfunction and complicated by otitis media, an inflammatory process within the middle ear. Environmental, epidemiologic and familial risk factors for otitis media (such as sex, socioeconomic and educational factors, smoke exposure, allergy or duration of breastfeeding) have been previously reported, but actually no data about their diffusion among Sicilian children with upper respiratory tract infections are available. OBJECTIVE: T…

Prelingual sensorineural hearing loss and infants at risk: Western Sicily report.

2013

Objective: To evaluate independent etiologic factor associated with sensorineural hearing loss (SNHL) in newborn at risk; to study the role of their interaction especially in NICU infants who present often multiple risk factors for SNHL. Methods: The main risk factors for SNHL reported by JCIH 2007 were evaluated on 508 infant at risk ranging from 4 to 20 weeks of life, transferred to the Audiology Department of Palermo from the main births centers of Western Sicily. After a global audiological assessment, performed with TEOAE, tympanometry and ABR, the prevalence and the effect of risk factors was statistically studied through univariate and multivariate analysis on the total population (n…