Search results for " Hearing"
showing 10 items of 301 documents
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
2004
AbstractPendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P. An audiological long-term follow-up of 23 yr showed that the mutation T416P is associated with a …
[Treatment of sensorineural hearing loss in acute viral otitis media with intratympanic dexamethasone and hyaluronic acid in comparison with intraven…
2006
Background: Intratympanic dexamethasone with hyaluronic acid has shown to be an effective treatment of the inner ear damage in sudden hearing loss and Meniere's disease. It is not known yet if the same applies to the toxic inner ear damage in acute viral otitis media. Patients: Retrospectively, 26 patients who suffered from acute viral otitis media with sensorineural hearing loss were examined with regard to the improvement of their inner ear hearing loss. Twelve patients were treated with intravenous therapy only, consisting of hydroxyethylstarch, pentoxifylline and prednisolone. Fourteen patients additionally received intratympanic injections, consisting of dexamethasone and hyaluronic ac…
Otosclerosis associated with type B-1 inner ear malformation
2010
Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral ot…
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…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Effect of changing pulse rate on profile parameters of perceptual thresholds and loudness comfort levels and relation to ECAP thresholds in recipient…
2010
Abstract: The Nucleus CI24RE Freedom device offers higher stimulation rates and lower noise levels in action potential measurements (ECAPs) than previous devices. A study including ten European implant teams showed that the effect of changes in rate from 250 to 3500 pulses per second on tilt and curvature of the T and C profiles is insignificant. When changing rate one may change the levels at all electrodes by the same amount. Using an automated procedure ECAPs could be measured quickly and reliably at a noise level of only 1 μV. However, this did not result in improved correlations between the tilt and curvature parameters of the ECAP profiles and those of the T and C profiles. Average C …
Speech perception performance as a function of stimulus pulse rate and processing strategy preference for the Cochlear™ Nucleus®CI24RE device: Relati…
2010
Current cochlear implants can operate at high pulse rates. The effect of increasing pulse rate on speech performance is not yet clear. Habituation to low rates may affect the outcome. This paper presents the results of three subsequent studies using different experimental paradigms, applying the Nucleus CI24RE device, and conducted by ten European implant teams. Pulse rate per channel varied from 500 to 3500 pulses per second with ACE and from 1200 to 3500 pps with CIS strategy. The results showed that the first rate presented had little effect on the finally preferred rate. Lower rates were preferred. The effect of pulse rate on word scores of post-linguistic implantees was small; high rat…
Early Life Influences on Hearing in Adulthood : a Systematic Review and Two-Step Individual Patient Data Meta-Analysis
2021
Objectives: Adverse prenatal and early childhood development may increase susceptibility of hearing loss in adulthood. The objective was to assess whether indices of early development are associated with adult-onset hearing loss in adults ≥18 years. Design: In a systematic review and meta-analysis, four electronic databases were searched for studies reporting associations between indices of early development (birth weight and adult height) and adult-onset hearing loss in adults ≥18 years. We screened studies, extracted data, and assessed risk of bias. Authors were contacted to provide adjusted odds ratios from a logistic regression model for relationships between birth weight/adult height a…
Adaptation and psychometric data of the Exploration of Natural Metalinguistic Skills in Aphasia Protocol (MetAphAs) - Chilean version.
2019
This study aimed to cross culturally adapt the Protocol for the Exploration of Natural Metalinguistic Skills in Aphasia (MetAphAs), contributing to the future application in the aphasic Chilean population.The sample corresponds to 72 healthy subjects in the region of Valparaíso, between the ages of 50 to 85. The MetAphAs measures natural metalinguistic skills and presents the basic elements on which to base the exploration of the metacognitive dimensions involved in verbal behavior. The validity was ascertained by means of Cronbach's Alpha Coefficient, including the values of each of the 6 sections; the correlations between variables were analyzed by the Pearson coefficient.We observed that…
Genetic and environmental influences on hearing at different frequencies separately for the better and worse hearing ear in older women
2007
The purpose of the present study was to examine the relative contribution of genetic and environmental effects on the air-conducted hearing threshold levels at low (0.125-0.5 kHz), mid (1-2 kHz), and high (4-8 kHz) frequencies separately for the better and worse hearing ear in older women. We also examined the distribution of audiogram configurations. Data was analysed using quantitative genetic modelling. As part of the Finnish twin study on aging (FITSA), hearing was measured in 103 monozygotic and 114 dizygotic female twin pairs aged 63-76 years. Approximately every third subject had a flat type, and two-thirds a descending type of audiogram configuration. No significant difference was o…