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.
Xiangjian Zhang, Junmin Chen
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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
doaj +3 more sources
Sensorineural deafness in purebred white Devon Rex cats [PDF]
Journal of Veterinary Internal MedicineBackground Data regarding congenital sensorineural deafness (CSD) in client‐owned, white Devon Rex cats is limited because most of the information on this disease comes from experiments on mixed‐breed cats.
Annemarie Kortas +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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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation [PDF]
Annals 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
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Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia
Annals 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
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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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A Case Report Management of Bilateral Sudden Deafness
Jurnal Otorinolaringologi Kepala dan Leher Indonesia, 2023 Introduction: Sudden deafness or sudden sensorineural hearing loss (SSNHL) is defined as sensorineural hearing loss of more than 30 dB at three consecutive frequencies within 3 days of onset, often unilateral, and only 0,4-3,4 % of patients with ...
Yunita Wulandari, Jacky Munilson
doaj +1 more source
Deafness gene screening based on a multilevel cascaded BPNN model
BMC Bioinformatics, 2023 Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these
Xiao Liu +5 more
doaj +1 more source
IJU Case Reports, 2020 Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura +9 more
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