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 +5 more
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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 +5 more
doaj +2 more sources
PLoS ONE, 2019 Tinnitus and hearing impairment are prevalent among headache patients. This study aims to investigate the risk of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.
Yi-Chun Chen +3 more
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Bilateral Sensorineural Deafness in a Young Pregnant Female Presenting with a Fever: A Rare Complication of a Reemerging Disease—Spotted Fever Group Rickettsioses [PDF]
Case Reports in Infectious Diseases, 2019 Background. Rickettsial illnesses are a group of arthropod-borne remerging diseases. They are subdivided into three groups as typhus, spotted fever, and scrub typhus group.
A. G. T. A. Kariyawasam +5 more
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Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsHDR 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 +2 more
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Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report [PDF]
SAGE Open Medical Case Reports, 2017 Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou +3 more
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Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report [PDF]
Frontiers in GeneticsBackgroundRetinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The DHX16 gene, which encodes a protein involved in RNA processing, has been implicated in several genetic ...
Lei Wang +7 more
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Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]
Case Reports in Nephrology, 2013 Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki +3 more
doaj +3 more sources
De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs. [PDF]
Sci Rep, 2022 Haase B +5 more
europepmc +3 more sources
[The value of quantitative measurement of key structures of inner ear by HRCT in hearing evaluation of patients with congenital severe sensorineural deafness]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2021 Wang L, Xia G, Chen X.
europepmc +3 more sources