Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.33441
Abstract: Key Points Question What is the association between rates of genetic diagnosis and sociodemographic and clinical characteristics in children with sensorineural hearing loss, and how often are these diagnoses associated with changes in clinical management?… read more here.
Keywords: hearing; hearing loss; genetic diagnosis; cohort ... See more keywords
A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23686
Abstract: Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural… read more here.
Keywords: bilateral severe; ichthyosis; sensorineural hearing; follicularis bilateral ... See more keywords
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24886
Abstract: The Protein tyrosine phosphatase receptor Q (PTPRQ) gene encodes a member of the type III receptor‐like protein tyrosine phosphatase family found in the stereocilium. Mutations in PTPRQ are mostly associated with deafness, autosomal recessive type… read more here.
Keywords: progressive sensorineural; hearing; delayed progressive; hearing loss ... See more keywords
Quantitative analyses of high‐angular resolution diffusion imaging (HARDI)‐derived long association fibers in children with sensorineural hearing loss
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10071
Abstract: Sensorineural hearing loss (SNHL) is the most common developmental sensory disorder due to a loss of function within the inner ear or its connections to the brain. While successful intervention for auditory deprivation with hearing… read more here.
Keywords: association fibers; long association; diffusion; sensorineural hearing ... See more keywords
Sensorineural hearing loss and cognitive impairments: Contributions of thalamus using multiparametric MRI
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Magnetic Resonance Imaging"
DOI: 10.1002/jmri.26665
Abstract: The thalamus is an integrative hub conveying sensory information between cortical areas and related to cognition. However, alterations of the thalamus following partial hearing deprivation remains unknown. read more here.
Keywords: hearing loss; sensorineural hearing; cognitive impairments; impairments contributions ... See more keywords
Prognostic factors for hearing outcomes in patients that undergo adjuvant hyperbaric oxygen therapy for sudden sensorineural hearing loss
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.768
Abstract: The aim of this study is to explore the potential factors in hearing outcomes and verify the role of oxidant‐antioxidant equilibrium on the prognosis of sudden sensorineural hearing loss (SSNHL) treated with hyperbaric oxygen therapy… read more here.
Keywords: hearing loss; sensorineural hearing; hyperbaric oxygen; hearing outcomes ... See more keywords
Recurrent sudden sensorineural hearing loss—A literature review
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.828
Abstract: Sudden sensorineural hearing loss (SSNHL) is one of the few emergent otologic conditions. Although more than half of all patients would benefit from timely treatment, recurrence occasionally develops unexpectedly. The aim of our study is… read more here.
Keywords: sensorineural hearing; sudden sensorineural; hearing loss; recurrent ... See more keywords
Vascular loops in cerebellopontine angle in patients with unilateral idiopathic sudden sensorineural hearing loss: Evaluations by three radiological grading systems
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.876
Abstract: We aimed to investigate the impact of the position, configuration and neurovascular contact of the anterior inferior cerebellar artery (AICA) in cerebellopontine angle (CPA) and internal auditory canal (IAC) on the clinical features of patients… read more here.
Keywords: cerebellopontine angle; unilateral idiopathic; patients unilateral; sensorineural hearing ... See more keywords
Optimal timing of salvage intratympanic steroids in idiopathic sudden sensorineural hearing loss
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.909
Abstract: Salvage intratympanic steroids (ITS) works in patients with idiopathic sudden sensorineural hearing loss (ISSNHL) after failure of initial therapy, but optimal timing of administration is unknown. read more here.
Keywords: hearing loss; intratympanic steroids; sensorineural hearing; salvage intratympanic ... See more keywords
Diagnostic value and prognostic significance of MRI findings in sudden sensorineural hearing loss
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.922
Abstract: We evaluated the clinical significance of magnetic resonance imaging (MRI) findings and their prognostic value for initial hearing loss and recovery in patients with sudden sensorineural hearing loss (SSNHL). read more here.
Keywords: hearing; hearing loss; mri findings; sensorineural hearing ... See more keywords
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.995
Abstract: Childhood hearing impairment affects language and cognitive development. Profound congenital sensorineural hearing impairment can be due to an abnormal cochleovestibular nerve (CVN) and cochleovestibular malformations, however, the etiology of these conditions remains unclear. read more here.
Keywords: six1 variant; cochleovestibular nerve; novo six1; sensorineural hearing ... See more keywords