Search results for " hearing loss"
showing 10 items of 105 documents
IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss
2021
This article belongs to the Collection Insulin-Like Growth Factors in Development, Cancers and Aging.
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…
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…
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…
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…
[Clinical and radiological evolution of a group of untreated acoustic neuromas].
2013
Abstract Introduction The acoustic neuroma is a benign tumour that originates in the vestibular branch of the eighth cranial nerve. The main treatment is surgery, but many authors suggest that with elderly patients or in small neuromas we can opt for watchful waiting. Methods This was a retrospective study from 2007 to 2013 that included 27 patients diagnosed of acoustic neuroma that had not been treated due to the size of the tumour, age and comorbidities, or by patient choice. We evaluated overall condition, hearing thresholds, degree of canal paresis and central disorders. Results After 6 years of follow up, clinical manifestations of 18 patients remained unchanged, 5 patients underwent …
Clinical observations and risk factors for tinnitus in a Sicilian cohort.
2014
The aims of this study were to determine the distribution of risk factors associated with tinnitus analysing their role in the development of tinnitus and the effects of their interaction; to evidence the importance of a suitable and adequate clinical and audiologic assessment to avoid those modifiable risk factors responsible for cochlear dysfunction and tinnitus onset. 46 subjects with tinnitus and 74 controls were studied according to: age, sex, Body Mass Index (BMI), neck circumference, tobacco smoking, feeling fatigue or headache, self reporting snoring, hypertension, diabetes, coronary heart disease, and/or hyperlipidemia, and laboratory finding as lipid profile and levels of reactive…
Sudden Sensorineural Hearing Loss: Results of intratympanic steroids as salvage treatment
2012
Objective: The aim of the present study was to verify the efficacy and the safety of intratympanic dexamethasone to treat sudden sensorineural hearing loss as salvage therapy. Materials and methods: A prospective study was conducted on patients affected by idiopathic sudden hearing loss who were treated before with some systemic therapy, but without recovery of the hearing The patients able to undergo the study, but who refused salvage treatment were considered as control group. A solution of Dexamethasone 4 mg/ml was then injected through the posterior–inferior quadrant filling completely the middle ear. The follow-up in the following 6 months included an audiogram every month. Results: Th…