Enlarged Vestibular Aqueduct and Associated Inner Ear Malformations: Hearing Loss Prognostic Factors and Data Modeling from an International Cohort. [PDF]
J Int Adv Otol, 2023 ACKGROUND: There is a need to operationalize existing clinical data to support precision medicine in progressive hearing loss (HL). By utilizing enlarged vestibular aqueduct (EVA) and its associated inner ear abnormalities as an exemplar, we model data ...
Saeed HS +9 more
europepmc +2 more sources
Enlarged Vestibular Aqueduct: Audiological and Vestibular Profiles in Siblings with Genetic Mutations. [PDF]
Indian J Otolaryngol Head Neck SurgThis study examines audiological and vestibular profiles in siblings with Enlarged Vestibular Aqueduct (EVA) and gene mutations. Despite normal vestibular test results, the elder sibling reported falls, highlighting subclinical vestibular dysfunction ...
Bhogade M +3 more
europepmc +2 more sources
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants. [PDF]
Otolaryngol Head Neck SurgAbstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Vigouroux A +9 more
europepmc +2 more sources
Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article
Pakistan Journal of Medicine and DentistryBackground: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig +3 more
doaj +1 more source
Enlarged vestibular aqueduct with bilateral sensorineural hearing loss following cranial trauma: a case report [PDF]
Brazilian Journal of OtorhinolaryngologyAlexandre Camilotti Gasperin +5 more
doaj +2 more sources
Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features. [PDF]
Eur Arch Otorhinolaryngol, 2021 Purpose: When referring to enlarged vestibular aqueduct (EVA) we should differentiate between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome (PDS), a disease continuum associated with pathogenic sequence variants of Pendrin’s Gene
Forli F +4 more
europepmc +2 more sources
Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria [PDF]
International Journal of Molecular Sciences, 2018 Miklós Tóth +2 more
exaly +2 more sources
, 2021 Objective: There is a need to highlight individual prognostic factors determining hearing loss in enlarged (wide) vestibular aqueduct, as currently clinicians cannot counsel parents about the expected clinical course, nor provide individualized hearing ...
Saeed, Haroon
core +1 more source
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. [PDF]
PLoS ONE, 2016 The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a ...
Hong Wu +11 more
doaj +1 more source
Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene
Stem Cell Research, 2022 The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene.
SiJun Li +9 more
doaj +1 more source