The examination of 135 patients with neurosensory hypoacusis and 97 otologically healthy persons has determined parameters of delayed otoacoustic emission and otoacoustic emission at the frequency of the distortion product for etiologically different forms of neurosensory hypoacusis. These parameters allowed selection of statistically significant homogeneous groups. Basing on a total of parameters of evoked otoacoustic emission in each homogeneous group and affiliation of an individual patient to one of the above groups one can identify genesis of neurosensory hypoacusis.
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Int J Mol Sci
December 2024
Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.
This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the gene linked to neurosensorial hearing loss.
View Article and Find Full Text PDFTissue Cell
December 2024
ENT Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt. Electronic address:
Background: Sensorineural hearing loss (SNHL) is the most common sensory deficit worldwide. Current solutions for SNHL, including hearing aids, cochlear implants, and hearing assistive devices, do not provide consistent results and fail to address the underlying pathology of hair cell and ganglion cell damage. Stem cell therapy is a cornerstone in regenerative medicine.
View Article and Find Full Text PDFHGG Adv
January 2025
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
Codas
November 2024
Pontifícia Universidade Católica de São Paulo - PUC-SP - São Paulo (SP), Brasil.
Purpose: To verify the relationship between consistency in the use of hearing aids, auditory speech perception and vocabulary in children using hearing aids.
Methods: The population of Pereira's (2023) study was resumed and the database was analyzed containing information about the Speech Intelligibility Index (SII) for input sounds of 65 dBSPL (with or without hearing aids) of 29 children with neurosensorial hearing loss and hearing aid users bilaterally, with oral language, the number of hours per day of use of the device, four-tone average, results of the repetition of words with or without meaning in 65 dBSPL, Peabody Picture Vocabulary Test - PPVT. The consistency of the use was analyzed through measuring the auditory dosage which takes into account the average of use hours and the audibility with or without the device.
Mol Ther
November 2024
Translational Hearing Research, Tübingen Hearing Research Center, Department of Otolaryngology - Head and Neck Surgery, University of Tübingen, Tübingen, Germany; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. Electronic address:
Recent evidence provides strong support for the safe and effective use of gene therapy in humans with hearing loss. By means of a single local injection of a set of adeno-associated virus (AAV) vectors, hearing was partially restored in several children with neurosensory nonsyndromic autosomal recessive deafness 9 (DFNB9), harboring variants in the OTOF gene. Current research focuses on refining endoscopic and transmastoid injection procedures to reduce risks of side effects, as emerging evidence suggests bidirectional fluid exchanges between the ear and the brain.
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