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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
Orphanet J Rare Dis
January 2025
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.
View Article and Find Full Text PDFIs middle East pain syndrome (MEPS) a variant of fibromyalgia syndrome or a distinct disease?
BMC Rheumatol
January 2025
Rheumatology Department, Al-Azhar University Faculty of Medicine for Girls, 74 Ali Amin St, Nasr City, PO 11727, Cairo, Egypt.
Background: Fibromyalgia Syndrome (FMS) is a chronic disabling musculoskeletal condition of unknown aetiology characterized by generalized musculoskeletal pain, extreme fatigue, mood disturbance, impaired cognition, and lack of refreshing sleep. Middle East pain syndrome (MEPS) is a newly described pollution-induced syndrome of hyperparathyroidism and fibromyalgia mimicking rheumatoid arthritis, characterized by the radiological presence of spur-like excrescences in terminal phalanges. This study aimed to explore the inflammatory nature of Middle East pain and Fibromyalgia syndromes.
View Article and Find Full Text PDFCOVID-19 workplace countermeasures that occupational physicians could not change in Japan: a qualitative study.
BMC Public Health
January 2025
Department of Occupational Health Practice and Management, Institute of Industrial Ecological Sciences, University of Occupational and Environmental Health, Fukuoka, Japan.
Background: During the COVID-19 pandemic, information and circumstances changed from moment to moment, including the accumulation of scientific knowledge, the emergence of variants, social tolerance, and government policy. Therefore, it was important to adapt workplace countermeasures punctually and flexibly based on scientific evidence and according to circumstances. However, there has been no assessment of changes in workplace countermeasures.
View Article and Find Full Text PDFDry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis.
J Cyst Fibros
January 2025
Pulmonology Department, Regional University Hospital of Malaga, Department of Medicine and Dermatology, University of Malaga, Biomedical Research Institute of Malaga (IBIMA) - Bionand Platform, Malaga, Spain. Electronic address:
Background: Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF.
Methods: Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS).
[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
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