Results 51 to 60 of about 247,945 (341)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Synaptic mitochondria regulate hair-cell synapse size and function
eLife, 2019 Sensory hair cells in the ear utilize specialized ribbon synapses. These synapses are defined by electron-dense presynaptic structures called ribbons, composed primarily of the structural protein Ribeye.
Hiu-tung C Wong +5 more
doaj +1 more source
Deaf epistemologies as a critique and alternative to the practice of science: an anthropological perspective [PDF]
, 2010 IN THE LAST DECADE, and responding to the criticism of orientalism, anthropology has engaged in a self-critical practice, working toward a postcolonial perspective on science and an epistemological stance of partial and situated knowledge (Pinxten, 2006;
De CLERCK, Goedele
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
Cognitive ResearchThe use of face coverings can make communication more difficult by removing access to visual cues as well as affecting the physical transmission of speech sounds.
I. R. Jackson +3 more
doaj +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
Cisplatin is retained in the cochlea indefinitely following chemotherapy
Nature Communications, 2017 Permanent hearing loss occurs in many cancer patients treated with cisplatin. In this study, the authors examine cisplatin pharmacokinetics in the cochleae of mice and humans showing that cisplatin is retained for months to years after treatment.
Andrew M. Breglio +8 more
doaj +1 more source
Deafness gene screening based on a multilevel cascaded BPNN model
BMC Bioinformatics, 2023 Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these
Xiao Liu +5 more
doaj +1 more source
Rehabilitation of hearing impaired children in India – An update [PDF]
, 2013 The prevalence of deafness in India is fairly significant. It is the second most common cause of disability. Approximately 63 million people (6.3%) in India suffer from significant auditory loss.1 Rehabilitation of hearing impaired children in India ...
Naik, Mahendra S +2 more
core +1 more source