Results 61 to 70 of about 2,587 (173)

A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7

Human Mutation, Volume 2026, Issue 1, 2026.
Pathogenic variants in the LIM‐homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel heterozygous frameshift variant, LMX1A c.405delT (p.Phe135LeufsTer3), identified in a three ...
Chenyang Xu, Zhipeng Nie, Suyang Wang, Yiming Zhu, Xiaowen Liu, Yufen Guo, Stuart Scott   +6 more
wiley   +1 more source

Modulation of hearing function following the downgrading or upgrading of endolymphatic hydrops in Meniere's disease patients with endolymphatic duct blockage.

PLoS ONE, 2020
The present study was to investigate the dynamics of endolymphatic hydrops (EH) and hearing function, and explore whether the hearing loss is caused by EH alone and whether the hearing function can be modulated by changes in the EH.
Anquan Peng, Junjiao Hu, Qin Wang, Wenqi Jiang, Wei Liu, Zhiwen Zhang, Chao Huang, Yichao Chen   +7 more
doaj   +1 more source

Otopathologic Patterns of Cellular Degeneration in the Peripheral Vestibular Organ Secondary to Head Trauma

The Laryngoscope, Volume 135, Issue 10, Page 3859-3866, October 2025.
This study examines vestibular degeneration following head trauma, comparing cases with and without fractures. Histopathological analysis of 26 temporal bones showed more severe damage in nonfracture cases, particularly in Scarpa's ganglion cells and vestibular hair cells.
Tomotaka Shimura, Mio Takeuchi, Nevra Keskin Yilmaz, Dilshan Rajan, Sebahattin Cureoglu, Sei Kobayashi, Rafael da Costa Monsanto   +6 more
wiley   +1 more source

Blood Labyrinth Barrier Waste Clearance as Assessed by GBCAs on MRI: A Scoping Review

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
ABSTRACT Objective The discovery of the glymphatic system in the brain and eye has raised the hypothesis of a similar system in the inner ear. Dysfunctional lymph fluid dynamics may contribute to inner ear conditions such as Meniere's Disease (MD) and endolymphatic hydrops (EH).
Syed Ameen Ahmad, Emily Y. Huang, Joon Soo Kim, Yassine Balhi, Marcus Spann, Bryan K. Ward   +5 more
wiley   +1 more source

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

MedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera, Paula Robles‐Bolivar, Patricia Perez‐Carpena, Jose A. Lopez‐Escamez   +5 more
wiley   +1 more source

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early‐Onset, Bilateral Meniere's Disease

OTO Open, Volume 9, Issue 4, October-December 2025.
Abstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Keshav V. Shah, Christian Jung, Daniel Talian, Sherrie Davis, Douglas J. Epstein, Michael J. Ruckenstein, Tiffany P. Hwa   +6 more
wiley   +1 more source

MRI in Menière’s Disease

Journal of the Belgian Society of Radiology, 2018
The visualization of the morphologic substrate of Menière’s disease -the endolymphatic hydrops – can be performed using non-contrast as well as contrast-enhanced magnetic resonance imaging techniques. The non-contrast magnetic resonance imaging technique
Anja Bernaerts
doaj   +1 more source

Severe self‐limiting acute bilateral hearing loss following a low dose of methylphenidate for ADHD treatment: A case report

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 1, March 2026.
Atefeh Zandifar, Rahim Badrfam
wiley   +1 more source

Tone Burst Electrocochleography for the Diagnosis of Clinically Certain Meniere's Disease

Frontiers in Neuroscience, 2017
The technique of transtympanic electrocochleography was initially developed as an objective hearing threshold test by Eggermont. Gibson et al. (1977) claimed that an enlarged direct current component of the action potential (AP) called the summating ...
Jeremy Hornibrook
doaj   +1 more source

Reuniting and Endolymphatic Duct Macrophages: Localization and Possible Roles

Audiology Research
Background: The inner ear hosts several macrophage populations. Endolymphatic sac macrophages can phagocytose otoconia, and spiral limbus macrophages express genes for fluid shear stress sensing and bone remodeling.
Elisa Vivado, Daniele Cossellu, Paola Perin   +2 more
doaj   +1 more source