Results 101 to 110 of about 161,807 (290)

Case of Waardenburg Shah syndrome in a family with review of literature

Journal of Otology, 2018
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah
Setty.L.N. Chandra Mohan
doaj   +1 more source

Early assessment of vestibular function after unilateral cochlear implant surgery [PDF]

, 2019
Introduction : Cochlear implantation (CI) has been reported to negatively effect on the vestibular function. The study of the vestibular function has variably been conducted by different types of diagnostic tools. The combined use of modern, rapidly
Barbara, M, Benincasa, AT, Covelli, E, Filippi, C, Monini, S, Talamonti, R, Tarentini, S   +6 more
core   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source

Clinical Diagnostics After Failed Hearing Screening in People With Intellectual Disabilities Do Not Often Take Place

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with intellectual disabilities are at higher risk of undiagnosed or inadequately treated hearing loss. This situation requires easily accessible hearing screening, diagnostics and intervention programmes in the living environment, i.e., in nurseries, schools, workplaces and homes.
Anna Wiegand, Philipp Mathmann, Susanne Wasmuth, Lukas Prein, Ross Parfitt, Martin Scharpenberg, Vincent Jankovic, Katharina Schwarze, Anja Neumann, Karolin Schäfer, Christian Speckemeier, Sven Baessler, Sarah Schlierenkamp, Sandra Diekmann, Nicole Stuhrmann, Ruth Lang‐Roth, Muhittin Demir, Werner Brannath, Awa Naghipour, Susanna Marie Zielonkowski, Anna Sophia Schwalen, Corinna Gietmann, Katrin Neumann   +22 more
wiley   +1 more source

GPi‐DBS for SERAC1‐Related Dystonia‐Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Vidal Yahya, Alessandro Di Maio, Mauro Treddenti, Ludovica Tundo, Giulia Scacciatella, Costanza Masetti, Marta Pengo, Chiara Casellato, Desiree Lattanzi, Marcello Egidi, Sara Marceglia, Tommaso Bocci, Alberto Priori, Gaia Oggioni   +13 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 733-737, March 2026.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Adult‐Onset Acute Cerebellar Ataxia with Preceding Essential Tremor‐like Syndrome Associated with a Novel Variant in ATP1A3

Movement Disorders Clinical Practice, EarlyView.
Lukas Gattermeyer‐Kell, Sebastian Franthal, Maria Tscherner, Mariella Kögl, Petra Katschnig‐Winter, Christian Windpassinger, Petra Schwingenschuh   +6 more
wiley   +1 more source

Hearing Loss: From Basic to Clinical Science

Advanced Science, Volume 13, Issue 7, 3 February 2026.
Abstract Hearing loss (HL) affects over 1.5 billion people globally, with genetic factors accounting for ≈50% of congenital cases. Therefore, HL has become a global health issue, driving extensive research from basic science to clinical applications. This Special Collection includes a total of 31 papers, among which 9 are review papers, 21 are research
Renjie Chai, Hai Huang, Jing Zou
wiley   +1 more source

Tympanogenic Labyrinthitis (Cochlear Deafness) due to chronic suppurative otitis media (CSOM)

مجله كليه طب الكندي, 2011
Background: It has been accepted that in patients with CSOM, conductive deafness results from mechanical break-down of sound conduction ,whilist the cochlea remains unaffected.
Raad A Al-Obaydi
doaj  

Exogenous neuritin restores auditory following cochlear spiral ganglion neuron denervation of gerbils

Neuroscience Research
Spiral ganglion neurons (SGNs) transmit sound signals received by hair cells to the auditory center to produce hearing. The quantity and function are important for maintaining normal hearing function. Limited by the regenerative capacity, SGNs are unable
Gui Fei, Song Dandan, Wang Haiyan, Zhang Shuai, Sun Xiaopin, Hong Yu, Yang Yi, Chen Rong, Huang Jin, Song Xiaoming, Yang Lei   +10 more
doaj   +1 more source