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Otolaryngological manifestations of cystic fibrosis in children: A systematic review.
Int J Pediatr Otorhinolaryngol
January 2025
Department of Otorhinolaryngology and Head and Neck Surgery, Antwerp University Hospital, Edegem, Belgium; Department of Translational Neuroscience, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. Electronic address:
Purpose: Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population. Otolaryngological manifestations pose a significant impact on the quality of life of children with CF. The primary aim of this review is to provide a state of the art update of current literature on the otolaryngological manifestations of CF in children.
View Article and Find Full Text PDFHearing care in low-resourced and humanitarian settings: findings from a pilot study in South Sudan.
Int J Audiol
January 2025
Cochlear Center for Hearing and Public Health, Johns Hopkins University, Baltimore, MD, USA.
Objectives: This longitudinal experimental study aimed to profile audiometric hearing loss, explore the feasibility and efficacy of low-cost hearing devices, and examine their social and emotional impact on participants in South Sudan, a low-resource humanitarian setting.
Design: We performed pure tone hearing screenings on adults with self-reported hearing disability, randomly providing eligible participants with one of two inexpensive devices-Asana Pro 800, a non-customizable hearing device fit unilaterally, or the Super Ear SE9000, a hand-held amplifier with headphones given one per individual.
Study Sample: Between October 2022 and January 2023, 142 adults underwent hearing screening at the Juba Teaching Hospital ENT clinic, of whom 19 eligible individuals were provided with hearing devices.
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Mol Genet Genomic Med
February 2025
Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.
View Article and Find Full Text PDFEffects of Korean red ginseng on auditory, cognitive, and liver functions in a naturally aged mouse model.
J Ginseng Res
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Department of Oriental Medicine Biotechnology, Graduate School of Biotechnology, Kyung Hee University, Global Campus, Yongin, Gyeonggi-do, Republic of Korea.
Background: Korean Red Ginseng and ginsenosides have been studied for their efficacy against various diseases, including those related to aging. However, most aging studies use D-galactose to induce aging, which often does not accurately represent natural aging. This study aimed to verify improvements in auditory, cognitive, and liver function through administering red ginseng to an 18-month-old naturally aging mouse model.
View Article and Find Full Text PDFLong-Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model.
Adv Sci (Weinh)
January 2025
Department of Otolaryngology, Case Western Reserve University, Cleveland, OH, 44106, USA.
Usher syndrome type 1C (USH1C) is a genetic disorder caused by mutations in the USH1C gene, which encodes harmonin, a key component of the mechanoelectrical transduction complex in auditory and vestibular hair cells. USH1C leads to deafness and vestibular dysfunction in humans. An Ush1c knockout (KO) mouse model displaying these characteristic deficits is generated in our laboratory.
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