Results 1 to 10 of about 29,031 (301)

Sensorineural Deafness and MMR Immunization

open access: hybridPediatric Neurology Briefs, 1993
Nine reports of sensorineural hearing loss after measles, mumps, and rubella (MMR) immunization were evaluated at the Radcliffe Infirmary, Oxford, England.
J Gordon Millichap
doaj   +5 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]

open access: yesCase 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
doaj   +2 more sources

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

open access: yesHeliyon, 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

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

open access: yesEndocrinology, 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   +2 more
doaj   +2 more sources

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report [PDF]

open access: yesSAGE 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
doaj   +2 more sources

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2015
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15.
Yong Suk Shim   +3 more
doaj   +2 more sources

Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10. [PDF]

open access: yesPLoS ONE, 2010
BackgroundCongenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD). This deafness is evident in young pups and may affect one ear (unilateral) or both ears (bilateral).
Susan Sommerlad   +6 more
doaj   +4 more sources

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

open access: yesNeural 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
doaj   +2 more sources

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]

open access: yesCase 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

Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia

open access: yesAnnals of Indian Academy of Neurology, 2023
Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness ...
Sruthi Kola   +6 more
doaj   +1 more source

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