Results 11 to 20 of about 66,726 (167)
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
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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Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome [PDF]
Frontiers in GeneticsThis article reports a case of a young woman who was admitted to the hospital with “sudden convulsions for 3 h.” She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism–
Jinyan Yang +5 more
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Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome [PDF]
Genetics and Molecular Biology, 2003 We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira +3 more
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Developmental window of sensorineural deafness in biotinidase-deficient mice. [PDF]
J Inherit Metab Dis, 2017 Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits ...
Maheras KJ, Pindolia K, Wolf B, Gow A.
europepmc +3 more sources
Ear, Nose & Throat Journal, 2021 Bilateral sensorineural deafness and unilateral cochlear ossification have rarely been described in patients with chronic myeloid leukemia (CML). A 21-year-old man presented to a hospital with right-sided sudden hearing loss and tinnitus.
Xianhai Zeng MM +6 more
doaj +1 more source
Barakat syndrome diagnosed decades after initial presentation
Endocrinology, Diabetes & Metabolism Case Reports, 2023 Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato +9 more
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Hearing in 44-45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. [PDF]
, 2012 Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose.
Pearce, K +9 more
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Wolfram Syndrome in a Family with Variable Expression
Acta Medica, 2001 Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy.
Abdurrahman Kadayifci +3 more
doaj +1 more source
PLoS 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 +1 more source