Variants of human CLDN9 cause mild to profound hearing loss
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24260
Abstract: Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing… read more here.
Keywords: hearing loss; cldn9; mild profound; deafness ... See more keywords
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Gene"
DOI: 10.1016/j.gene.2022.146258
Abstract: Hereditary hearing loss is highly heterogeneous. Despite over 120 non-syndromic deafness genes have been identified, there are still some of novel genes and variants being explored. In the study, we investigated 105 Chinese Han children… read more here.
Keywords: profound hearing; hearing; severe profound; non syndromic ... See more keywords
Long-Term Impedance Trend in Cochlear Implant Users with Genetically Determined Congenital Profound Hearing Loss.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the American Academy of Audiology"
DOI: 10.1055/s-0041-1739290
Abstract: BACKGROUND Impedance is a basic parameter registered at any cochlear implant (CI) fitting section. It is useful in monitoring electrode functioning and the status of the surrounding anatomical structures. PURPOSE The main aim of this… read more here.
Keywords: cochlear implant; hearing loss; profound hearing; impedance ... See more keywords
Patients with severe-to-profound hearing impairment and simultaneous severe vision impairment: a quality-of-life study
Sign Up to like & getrecommendations! Published in 2017 at "Acta Oto-Laryngologica"
DOI: 10.1080/00016489.2016.1229025
Abstract: Abstract Conclusions: Patients with severe vision impairment in combination with severe-to-profound hearing loss seem to have a higher risk for effects on QoL, including: mobility, the ability to provide self-care and perform usual activities, and… read more here.
Keywords: severe profound; patients severe; study; severe vision ... See more keywords
Experience of tinnitus in adults who have severe-to-profound hearing loss: A scoping review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.1004059
Abstract: Background Tinnitus is defined as the subjective perception of sound in the absence of an external stimulus, and tinnitus disorder becomes relevant when it is associated with emotional distress, cognitive dysfunction, and/or autonomic arousal. Hearing… read more here.
Keywords: review; hearing loss; profound hearing; tinnitus ... See more keywords
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2017.00401
Abstract: Calcium and integrin-binding protein 2 (CIB2) belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Among the family members, the Cib1 and Cib2 genes… read more here.
Keywords: hearing loss; mice; loss cib2; cib2 ... See more keywords
Patient-Assessed Outcomes following Temporal Bone Fractures
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12020547
Abstract: The long-term impact of neurotological symptoms after a temporal bone fracture (TBF), including facial nerve palsy (FP), hearing loss, tinnitus, and dizziness on the quality of life of patients is often underevaluated. Thus, we retrospectively… read more here.
Keywords: hearing loss; loss; profound hearing; handicap inventory ... See more keywords