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A systematic review on the imaging findings in auditory neuropathy spectrum disorder.
J Otol
July 2024
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, Karnataka, India.
Purpose: The present systematic review examined imaging findings in the Auditory Neuropathy Spectrum Disorder (ANSD) population.
Methods: Electronic databases such as Pub Med, Google Scholar, J Gate, and Science Direct were used to conduct a literature search. The articles retrieved through the literature search were assessed in two stages.
[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the gene].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Department of Otorhinolaryngology, the Affiliated Children Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.
View Article and Find Full Text PDFCurrent trends and hotspots of etiology of auditory neuropathy in the past 30 years: A bibliometric analysis.
J Otol
April 2024
Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100853, China.
Objective: To make an overview of global research trends in the etiology of auditory neuropathy (AN) over the past 30 years using a bibliometric approach.
Methods: Bibliometric analyses were conducted by GraphPad Prism 9.0, Citespace 6.
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.
Int J Mol Sci
November 2024
The Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 117513 Moscow, Russia.
Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes.
View Article and Find Full Text PDFCanonical MAPK signaling in auditory neuropathy.
Biochim Biophys Acta Mol Basis Dis
December 2024
Otorhinolaryngology Hospital, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China; Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:
Auditory neuropathy (AN) is an under-recognized form of hearing loss characterized by lesions in inner hair cells (IHCs), ribbon synapses and spiral ganglion neurons (SGNs). The lack of a targeted therapy for AN has increased the need for a better understanding of the pathogenic mechanism of AN. As mitogen-activated protein kinase (MAPK) signaling is ubiquitous in many biological processes, its alteration may facilitate the pathogenesis of multiple sites in AN.
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