Results 151 to 160 of about 1,559,915 (394)

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

INNER EAR AND THE COCHLEO-VESTIBULAR NERVE ASSESSMENT ON COMPUTER TOMOGRAPHY IMAGING IN PATIENTS WITH SENSORINEURAL HEARING LOSS

open access: yesRomanian Journal of Medical and Dental Education, 2019
The aim of the study is to identify the most common minor malformations encountered in the inner ear and cochlear nerve in patients with profound bilateral sensorineural hearing loss (SNHL) of unspecified cause.
Cristian Martu   +5 more
doaj  

Murine CMV-Induced Hearing Loss Is Associated with Inner Ear Inflammation and Loss of Spiral Ganglia Neurons

open access: yesPLoS Pathogens, 2015
Congenital human cytomegalovirus (HCMV) occurs in 0.5–1% of live births and approximately 10% of infected infants develop hearing loss. The mechanism(s) of hearing loss remain unknown.
R. Bradford   +5 more
semanticscholar   +1 more source

3D Printed Ear Canal Model [PDF]

open access: yes, 2017
A multi-material ear canal model was designed and created from CT scans of an actual patient. This ear canal model serves as a training model for trainees, surgeons and doctors to develop a better understanding of the anatomy and physiology of the ear ...
Ali, Ahmad   +2 more
core   +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

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo

open access: yesNeural Plasticity, 2016
Mammalian inner ear harbors diverse cell types that are essential for hearing and balance. Adenovirus is one of the major vectors to deliver genes into the inner ear for functional studies and hair cell regeneration.
Yilai Shu   +5 more
doaj   +1 more source

Cerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.
Mark A. Eckert   +3 more
wiley   +1 more source

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