Results 1 to 10 of about 35,387 (230)

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

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, D. R. Palangasinghe, C. L. Fonseka, P. U. T. De Silva, T. E. Kanakkahewa, N. J. Dahanayaka   +5 more
doaj   +2 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

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, Katerina Foska, John Ioannou, Mato Nagel   +3 more
doaj   +2 more sources

Sudden Sensorineural Deafness [PDF]

Proceedings of the Royal Society of Medicine, 1976
A. W. Morrison
  +8 more sources

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

Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report [PDF]

Frontiers in Genetics
BackgroundRetinitis 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, Jiyong Gao, Meng Sun, Li Fan, Shuhua Wang, Xue Li, Shuangyu Gu, Bingjuan Han   +7 more
doaj   +2 more sources

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, Bahman Bashardoust, Manouchehr Iranparvar Alamdari, Zahra Tavosi   +3 more
doaj   +3 more sources

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia. [PDF]

JCEM Case Rep, 2023
Gandolfi A, Ratnasamy K, Minutti C.
europepmc   +3 more sources

Decline in prevalence of congenital sensorineural deafness in Dalmatian dogs in the United Kingdom. [PDF]

J Vet Intern Med, 2020
Lewis T, Freeman J, De Risio L.
europepmc   +3 more sources