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Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFIntraepithelial ILC1-Like NK Cells Increase Lymphocyte Infiltration into the Tumor Microenvironment via the CXCL10 Axis.
Otolaryngol Head Neck Surg
December 2024
Department of Otolaryngology-Head & Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.
Intraepithelial type 1 innate lymphoid cells (ieILC1s) are tissue-resident lymphocytes in the microenvironment of head and neck squamous cell carcinoma. Here, we evaluate how these cells influence T-cell trafficking to tumors. We generated cytotoxic ieILC1-like cells from natural killer (NK) cells in vitro.
View Article and Find Full Text PDFAssociation of Polycystic Ovary Syndrome With Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
Otolaryngol Head Neck Surg
December 2024
Department of Otolaryngology-Head and Neck Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Objective: Despite certain studies indicating hearing impairments in individuals with polycystic ovary syndrome (PCOS), the correlation between PCOS and sensorineural hearing loss (SNHL) remains inconclusive. This study aimed to investigate the association between PCOS and SNHL.
Data Sources: A systematic literature search was conducted using PubMed, MEDLINE, EMBASE, and the Cochrane Library from inception to June 24, 2024.
Pituitary Gland Macroadenoma with Associated Hearing Loss.
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Jeonbuk National University, Jeonju, Republic of Korea.
Pituitary macroadenomas are benign neoplasms that can cause a range of symptoms due to a mass effect on surrounding structures. This case report describes a 51-year-old male presenting with progressive bilateral hearing impairment and significant deterioration in speech discrimination over several years. Examination revealed normal tympanic membranes and no neurological deficits, while pure tone audiometry indicated mild to moderate sensorineural hearing loss.
View Article and Find Full Text PDFDiagnostic Values of Fine Needle Aspiration Cytology and Frozen Section in Management of Parotid Tumors.
Ear Nose Throat J
December 2024
Department of Otolaryngology-Head and Neck Surgery, Bursa Uludag University, Faculty of Medicine, Bursa, Turkey.
This study aims to investigate the diagnostic values of fine needle aspiration cytology (FNAC) and frozen section (FS) in evaluating parotid gland masses subjected to parotidectomy. A retrospective analysis of data from 274 patients who underwent parotidectomy for parotid gland masses was performed at the Department of Otolaryngology of the University Hospital between 2013 and 2019. We compared the preoperative FNAC and intraoperative FS records with the definitive histopathological diagnoses obtained from the surgical resection specimens.
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