Results 41 to 50 of about 76,904 (360)

Convalescence of auditory brainstem response following idiopathic sudden onset sensorineural hearing loss

open access: yesPediatria i Medycyna Rodzinna, 2018
Sudden onset sensorineural hearing loss is an emergency condition in otorhinolaryngology. Despite its common occurrence, the investigation and treatment of this condition are still controversial. Auditory brainstem response is one of hearing assessment
Khairunnisak Misron   +2 more
doaj   +1 more source

Conductive Nanocomposite Hydrogels for Neural Tissue Engineering: A Systematic Scoping Review of Recent Trends

open access: yesAdvanced Science, EarlyView.
This systematic scoping review explores conductive nanocomposite hydrogels for neural tissue engineering(NTE), focusing on composition, cellular interactions, and neural differentiation capabilities. The review synthesizes data from 125 studies, examining important features including commonly used materials, cell types, and differentiation strategies ...
Mohammad Moghaddasi   +6 more
wiley   +1 more source

Evaluation of hearing and cochlear function by audiometric testing in patients with hyperemesis gravidarum [PDF]

open access: yes, 2015
INTRODUCTION: The aim of this study was to investigate cochlear functions in patients with hyperemesis gravidarum (HG).METHODS: Twenty-nine HG patients (58 ears) and 31 healthy control subjects (62 ears) were included.
Demirtas, Ömer   +5 more
core   +2 more sources

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Can unilateral, progressive or sudden hearing loss be immune-mediated in origin? [PDF]

open access: yes, 2017
OBJECTIVE: The aim of the present study was to demonstrate that the positivity of nonspecific immunological tests could be found not only in bilateral hearing loss but also in unilateral cases, either sudden or progressive. METHOD: An observational case
Atturo, Francesca   +4 more
core   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

open access: yesSAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar   +8 more
doaj   +1 more source

A Rare Case of Vertebrobasilar Dolichoectasia Presenting with Ipsilateral Facial Paresis and Concomitant Severe Sensorineural Hearing Loss

open access: yesPhilippine Journal of Otolaryngology Head and Neck Surgery, 2014
Objective: To report a case of vertebrobasilar dolichoectasia presenting with ipsilateral facial nerve paresis and concomitant severe sensorineural hearing loss.
Mee Ling Tang   +3 more
doaj   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

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