Results 11 to 20 of about 151,047 (293)

Etiology of Sensorineural Deafness

Pediatric Neurology Briefs, 1996
Children with a bilateral sensorineural hearing impairment averaging 30 dBHL or or more were investigated for possible congenital or intrauterine infection as causes at the Centre for Audiology, Manchester University, UK.
J Gordon Millichap
doaj   +3 more sources

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene.
Luke Vroegindewey, John Kim, Dennis J Joseph   +2 more
doaj   +2 more sources

Reversible splenial lesion syndrome in sisters with sensorineural deafness as the first manifestation [PDF]

Heliyon, 2021
Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder syndrome with unclear pathophysiology. Here, two sisters with sensorineural deafness as the chief complaint diagnosed with RESLES was reported.
Jinbo Yang, Xiaodan Ma, Rujuan Li, Xiaohui Ma, Junmin Chen, Xiangjian Zhang   +5 more
doaj   +2 more sources

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

Journal of Veterinary Internal Medicine, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +2 more sources

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Diabetes, 2017
Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes.
Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley   +15 more
openalex   +2 more sources

Sensorineural Deafness and Pigmentation Genes [PDF]

Neuron, 2001
However, before we can even begin to consider the Mitf and its interacting signaling cascades as targets for potential therapeutics, there are still many questions that remain to be answered. An essential remaining goal is the identification of Mitf transcriptional targets in the contexts of its specific physiologic activities, such as modulation of ...
Edwin R. Price, David E. Fisher
openalex   +4 more sources

Sympathetic ophthalmia with sensorineural deafness - report of a case [PDF]

Journal of Ophthalmic Inflammation and Infection, 2013
The aim of this study is to report a case of sympathetic ophthalmia with sensorineural hearing loss following penetrating trauma. This is an interventional case report. A 23-year-old male presented with bilateral, sudden, profound visual and hearing loss, disorientation, and dizziness. He had a past history of penetrating trauma with an iron rod in the
Ramesh Venkatesh, Manisha Agarwal, Vidya Ramesh, Shalini Singh, Meha Kantha, Jyotirmay Biswas   +5 more
openalex   +4 more sources

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness [PDF]

Neural Plasticity, 2016
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness ...
Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu   +5 more
doaj   +2 more sources

Antenatal Bartter′s syndrome with sensorineural deafness

Indian Journal of Nephrology, 2009
Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.
A Gajendragadkar, RP Bhamkar
openalex   +3 more sources

Viagra deafness—Sensorineural hearing loss and phosphodiesterase‐5 inhibitors [PDF]

The Laryngoscope, 2011
Viagra and PDE‐5 inhibitors use has mushroomed since its launch over a decade ago. A growing body of evidence indicates significant morbidity associated with the side effect profile of this class of drug.
Afroze S. Khan, Zishan Sheikh, Shahnawaz Khan, Raghav C. Dwivedi, Elliot Benjamin   +4 more
openalex   +2 more sources