Search results for " Sensorineural"
showing 10 items of 62 documents
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
2018
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In co…
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
2016
Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…
The Effect of Adaptive Nonlinear Frequency Compression on Phoneme Perception
2017
Purpose This study implemented a fitting method, developed for use with frequency lowering hearing aids, across multiple testing sites, participants, and hearing aid conditions to evaluate speech perception with a novel type of frequency lowering. Method A total of 8 participants, including children and young adults, participated in real-world hearing aid trials. A blinded crossover design, including posttrial withdrawal testing, was used to assess aided phoneme perception. The hearing aid conditions included adaptive nonlinear frequency compression (NFC), static NFC, and conventional processing. Results Enabling either adaptive NFC or static NFC improved group-level detection and recognit…
Characteristics of tinnitus with or without hearing loss: Clinical observations in Sicilian tinnitus patients
2010
Objective: To analyze the clinical characteristics of tinnitus both in normal hearing subjects and in patients with hearing loss. Methods: The study considered 312 tinnitus sufferers, 176 males and 136 females, ranging from 21 to 83 years of age, who were referred to the Audiology Section of the Department of Bio-technology of Palermo University. The following parameters were considered: age, sex, hearing threshold, tinnitus laterality, tinnitus duration, tinnitus measurements and subjective disturbance caused by tinnitus. The sample was divided into two groups: Group 1 (G1) subjects with normal hearing; Group 2 (G2) subjects with hearing loss. Results: Among the patients considered, 115 ha…
Brainstem evoked potentials and magnetic resonance imaging abnormalities in differential diagnosis of intracranial hypotension.
2019
Summary Objective To compare brainstem acoustic evoked potentials (BAEP) and magnetic resonance imaging (MRI) in the differential diagnosis of intracranial hypotension (IH), Chiari malformation (CM) and sensorineural hearing loss (SNHL). Methods BAEP were recorded in 18 IH, 18 CM, 20 SNHL patients and 52 controls. MRI were acquired in all IH and CM patients. Results Abnormal BAEP were observed in 94% of IH patients, in 33% of CM and 70% of SNHL patients. After recovery from IH, BAEP abnormalities disappeared. Internal auditory canal (IAC) MRI abnormalities were described in 88% of IH patients. MRI signs of IH were observed in 33–78% in IH patients, but the most frequent MRI sign was 8th ner…
Hearing loss in Fabry disease: data from the Fabry Outcome Survey
2006
Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). When compared to an age-matched population (ISO 70…
Cochlear origin of early hearing loss in vestibular schwannoma.
2007
Objective: To test whether early hearing loss (HL) is cochlear in origin in patients with vestibular schwannoma (VS). Study Design: Retrospective case review in an academic tertiary referral center. Methods: A group of 19 VS patients with normal/symmetrical hearing and a group of 20 VS patients with mild HL (threshold at any tested frequency better than 45 dB HL) on the tumor ear side. Differences of the amplitudes of the distortion products of otoacoustic emissions (DPOAEs) between the tumor ear and the nontumor ear were studied at frequencies of 1, 1.4, 2, 2.8, and 4 kHz. The Wilcoxon test was used to compare the ears for both groups and to test for possible differences in tumor size betw…
Assessing audiological, pathophysiological and psychological variables in tinnitus patients with or without hearing loss
2010
The aim of this work is to study the characteristics of tinnitus both in normal hearing subjects and in patients with hearing loss. The study considered tinnitus sufferers, ranging from 21 to 83 years of age, who were referred to the Audiology Section of Palermo University in the years 2006–2008. The following parameters were considered: age, sex, hearing threshold, tinnitus laterality, tinnitus duration, tinnitus measurements and subjective disturbance caused by tinnitus. The sample was divided into Group1 (G1), 115 subjects with normal hearing, and Group2 (G2), 197 subjects with hearing loss. Especially for G2, there was a predominance of males compared to females (P = 0.011); the highest…