Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 of its members manifesting ADNSHL, using a genome-wide linkage mapping approach. We found a novel locus DFNA59 between the D11S929 and D11S480 markers in the chromosome location 11p14.2-q12.3. The highest two-point lod score of 5.72 at recombination fraction = 0 was obtained for D11S4152, D11S4154, D11S1301, D11S905 and D11S1344. The critical genomic region comprising about 37 megabases of DNA is proposed to carry a gene for ADNSHL in the family. About 50 cochlear-expressed genes mapping to the region are strong candidates which we propose to examine to identify the gene responsible for the hearing impairment.
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http://dx.doi.org/10.1007/s00439-008-0596-3 | DOI Listing |
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFAdv Sci (Weinh)
January 2025
ENT Institute and Department of Otolaryngology, Eye & ENT Hospital of Fudan University, Shanghai, 200031, China.
Tinnitus, a widespread condition affecting numerous individuals worldwide, remains a significant challenge due to limited effective therapeutic interventions. Intriguingly, patients using cochlear implants (CIs) have reported significant relief from tinnitus symptoms, although the underlying mechanisms remain unclear and intracochlear implantation risks cochlear damage and hearing loss. This study demonstrates that targeted intracochlear electrical stimulation (ES) in guinea pigs with noise-induced hearing loss reversed tinnitus-related maladaptive plasticity in the cochlear nucleus (CN), characterized by reduced auditory innervation, increased somatosensory innervation, and diminished inhibitory neural networks.
View Article and Find Full Text PDFHeliyon
January 2025
Department of Laboratory Medicine, Fujian Medical University, Fuzhou, 350122, China.
Presbycusis, also referred to as age-related hearing loss, poses a substantial burden on both individuals and society. The hallmark of presbycusis is a progressive decrease in auditory sensitivity. Irreversible hearing loss occurs due to the limited regenerative capacity of spiral neurons and peripheral cochlear hair cells (HCs).
View Article and Find Full Text PDFJ Korean Med Sci
January 2025
Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Hanyang University, Seoul, Korea.
Background: Hearing level reference values based on the results of recent audiometry have not been established for the general population of South Korea. This study aimed to evaluate the mean hearing levels of each age group and to measure the annual progression of hearing loss.
Methods: We used the database of the eighth and ninth Korea National Health and Nutrition Examination Survey from 2020 to 2022, and included participants with normal tympanic membranes and without occupational noise exposure.
BMJ Open
December 2024
Department of Environmental and Occupational Health and Safety, College of Medicine and Health Science, Institute of Public Health, University of Gondar, Gondar, Ethiopia.
Objectives: This study was designed to assess occupational noise exposure levels, prevalence of temporary hearing loss and associated factors among textile industry workers in Amhara region, Ethiopia.
Design: An institution-based, cross-sectional study was conducted between June and July 2022. Participants were selected via a simple random sampling technique.
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