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
A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.850
Abstract: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. read more here.
Keywords: mutation linked; novel mutation; congenital deafness; linked recessive ... See more keywords
Descending projections from the inferior colliculus to medial olivocochlear efferents: Mice with normal hearing, early onset hearing loss, and congenital deafness
Sign Up to like & getrecommendations! Published in 2017 at "Hearing Research"
DOI: 10.1016/j.heares.2016.06.014
Abstract: ABSTRACT Auditory efferent neurons reside in the brain and innervate the sensory hair cells of the cochlea to modulate incoming acoustic signals. Two groups of efferents have been described in mouse and this report will… read more here.
Keywords: hearing loss; normal hearing; deafness; medial olivocochlear ... See more keywords
Delayed traumatic intracerebral hematoma presenting as cortical deafness: case report
Sign Up to like & getrecommendations! Published in 2020 at "Heliyon"
DOI: 10.1016/j.heliyon.2020.e03443
Abstract: Cortical deafness is a rare condition and is usually caused by bilateral cerebral lesions. Several cases of sudden cortical deafness caused by ischemic stroke or hypertensive intracerebral hematoma have been reported, however, no cases of… read more here.
Keywords: traumatic intracerebral; deafness; delayed traumatic; cortical deafness ... See more keywords
Les surdités de l’adulte : vers de nouveaux paradigmes
Sign Up to like & getrecommendations! Published in 2017 at "Presse Medicale"
DOI: 10.1016/j.lpm.2017.09.004
Abstract: Screening and early treatment of deafness regardless of age is essential. Deafness leads to social isolation, depression, and decreased cognitive function. The diagnosis requires an otoscopy and a confirmation of the type and degree of… read more here.
Keywords: adulte vers; nouveaux paradigmes; les surdit; surdit adulte ... See more keywords
miR-182 prevented ototoxic deafness induced by co-administration of kanamycin and furosemide in rats
Sign Up to like & getrecommendations! Published in 2020 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2020.134861
Abstract: Ototoxic drugs may induce auditory sensory hair cell loss and permanent deafness; however, there is still no effective treatments or prevention strategies for this side effect. A recent study found that microRNA182 (miR-182) protected cochlear… read more here.
Keywords: hair; mir 182; administration kanamycin; kanamycin furosemide ... See more keywords
A Nationwide Study Examining Deafness Among Hospitalized Adults.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of audiology"
DOI: 10.1044/2021_aja-20-00156
Abstract: Background It is unknown whether hospital outcomes differ among nonspeaking deaf patients compared to those without this disability. Objective This article aims to compare clinical outcomes and utilization data among patients with and without deafness.… read more here.
Keywords: deafness; hospitalized adults; deaf patients; compared controls ... See more keywords
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2204084119
Abstract: Significance Molecular components of hearing in mammalians are not completely delineated. Via a genetic approach conducted in families with sensorineural hearing loss, this study presents MINAR2 as an indispensable element of hearing in humans. Similarly,… read more here.
Keywords: hearing; hair cells; humans mice; mutations minar2 ... See more keywords
The Organization of Working Memory Networks is Shaped by Early Sensory Experience
Sign Up to like & getrecommendations! Published in 2018 at "Cerebral Cortex"
DOI: 10.1093/cercor/bhx222
Abstract: Abstract Early deafness results in crossmodal reorganization of the superior temporal cortex (STC). Here, we investigated the effect of deafness on cognitive processing. Specifically, we studied the reorganization, due to deafness and sign language (SL)… read more here.
Keywords: networks shaped; working memory; deafness; organization working ... See more keywords
Visuospatial and Tactile Working Memory in Individuals with Congenital Deafness.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of deaf studies and deaf education"
DOI: 10.1093/deafed/enab005
Abstract: Studies examining visuospatial working memory (WM) in individuals with congenital deafness have yielded inconsistent results, and tactile WM has rarely been examined. The current study examined WM span tasks in the two modalities among 20… read more here.
Keywords: congenital deafness; individuals congenital; visuospatial tactile; working memory ... See more keywords
Attitudes Toward Deafness Affect Impressions of Young Adults With Cochlear Implants.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of deaf studies and deaf education"
DOI: 10.1093/deafed/eny026
Abstract: This study continues a project on speech-based impressions of early-implanted cochlear implant (CI) users. It examined relationships between listeners' attitudes or personal traits and how they judged CI users upon hearing their speech. College students… read more here.
Keywords: intelligibility; rated speakers; deafness; attitudes toward ... See more keywords