Results 91 to 100 of about 2,727 (206)

Temporal bone radiology report classification using open source machine learning and natural langue processing libraries [PDF]

, 2016
BACKGROUND: Radiology reports are a rich resource for biomedical research. Prior to utilization, trained experts must manually review reports to identify discrete outcomes.
Aaron J. Masino, E. Bryan Crenshaw, Jeffrey W. Pennington, John A. Germiller, Robert W. Grundmeier   +4 more
core   +1 more source

Comparison of Hearing Phenotypes Among Children With Congenital Cytomegalovirus and Other Non‐Cytomegalovirus Conditions

OTO Open, Volume 9, Issue 2, April-June 2025.
Abstract Objective Hearing phenotype of the congenital cytomegalovirus (cCMV)‐infected children with isolated sensorineural hearing loss (SNHL) may be distinct from other types of SNHL and may provide an alternative approach for diagnosis. Study Design A retrospective cohort study.
Shi Liang, Emily Huang, Jordan Stout, Candace Winterton, Chong Zhang, Bridget F. Dorsey, Angela Presson, Matthew Firpo, Albert Park   +8 more
wiley   +1 more source

Large endolymphatic sac. A congenital deformity of the inner ear shown by magnetic resonance imaging [PDF]

, 1997
Fluctuant and progressive hearing impairment in a patient with a wide vestibular aqueduct has been called the 'large vestibular aqueduct syndrome'. Recently reports of magnetic resonance imaging (MRI) studies describe enlargement of the endolymphatic sac
Luxon, LM, Mahoney, CFO, Phelps, PD
core   +1 more source

Reevaluation of Enlarged Vestibular Aqueduct

JAMA Otolaryngology–Head & Neck Surgery
Importance Enlarged vestibular aqueduct (EVA), the most prevalent inner ear malformation causing hearing loss (HL) in various populations, is predominantly genetically mediated. Despite advancements in genetic diagnostics, the comprehensive phenotypic and genotypic spectrum of EVA remains insufficiently ...
Huang, Shasha, Gao, Xue, Jiang, Yi, Guo, Chang, Li, Xiaoge, Wang, Guojian, Han, Mingyu, Zhang, Xin, Yang, Suyan, Wang, Qiuquan, Zhao, Chaoyue, Yang, Jinyuan, Kang, Dongyang, Dai, Pu, Yuan, Yongyi   +14 more
openaire   +2 more sources

Advances in Understanding the Pathogenesis of Sensorineural Hearing Loss: Treatment Strategies and Implications for Auditory Protection

Sensory Neuroscience, Volume 1, Issue 1, April 2025.
Environmental factors and genetic factors damage the cochlear hair cells, which in turn leads to the death of sensory hair cells (This illustration was generated using Biorender.com). ABSTRACT Sensorineural hearing loss (SNHL) is a prevalent multifactorial condition affecting over 1.5 billion people worldwide.
Lin Yan, Yuhua Zhang, Yongjie Wei, Yongjun Zhu, Jiawei Du, Nan Cheng, Yun Xiao, Yan Xu, Lingna Guo, Buwei Shao, Wei Cao, Jianming Yang, Qiaojun Fang   +12 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function

Cellular Physiology and Biochemistry, 2013
The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia.
Philine Wangemann
doaj   +1 more source

Enlarged vestibular aqueduct syndrome mimicking otosclerosis in adults

American Journal of Otolaryngology, 2013
An enlarged vestibular aqueduct (EVA) results in hearing loss which is often progressive and heterogenous, the long-term natural history of which is not well understood. Patients born before the era of newborn hearing screening can present as adults with previously undiagnosed EVA.A retrospective chart review of patients seen at a tertiary adult ...
Stephanie S, Wieczorek, Martin E, Anderson, Dave A, Harris, Anthony A, Mikulec   +3 more
openaire   +2 more sources

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

BMC Nephrology, 2018
Background Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4
Xiangzhong Zhao, Jingru Lu, Yanxia Gao, Xiaoling Wang, Yanhua Lang, Leping Shao   +5 more
doaj   +1 more source

Bilateral large vestibular aqueduct syndrome in an 11-year-old boy. Radiological and clinical findings [PDF]

, 2015
Clinical observations supplemented with imaging examination show that the large vestibular aqueduct syndrome (LVAS) is a rare developmental anomaly of the inner ear, which leads to hearing loss.
Markiet, K., Piątkowski, J., Przewoźny, T.   +2 more
core   +2 more sources