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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 PDFUnveiling the Etiopathogenic Role of Epstein-Barr Virus in Periodontitis.
J Dent Res
January 2025
MICORALIS, Faculté de Chirurgie Dentaire, Université Côte d'Azur, Nice, France.
Periodontitis, a prevalent and costly oral disease, remains incompletely understood in its etiopathogenesis. The conventional model attributes it to pathogenic bacteria, but emerging evidence suggests dysbiosis involving bacteria, herpesviruses, and an exaggerated host immune response. Among herpesviruses, Epstein-Barr virus (EBV) closely links to severe periodontitis, yet the mechanisms underlying EBV-related pathogenesis remain elusive.
View Article and Find Full Text PDFPrevalence and morphology of middle mesial canals in mandibular first molars and their relationship with anatomical aspects of the mesial root: a CBCT analysis.
BMC Oral Health
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Department of Endodontics, Shaanxi Provincial People's Hospital, Xi'an, China.
Background: This study aims to investigate the prevalence and morphology of middle mesial canal (MMC) in mandibular first molar (M1M) among a Northwestern Chinese population, and to analyze their relationship with anatomical aspects of the mesial root.
Methods: Cone beam computed tomography (CBCT) was utilized to evaluate 898 M1Ms and assess the incidence and morphology of MMC. The following parameters for M1M with or without MMC were obtained: the vertical distance between the first appearance of MMC and canal orifices (D), the distance between mesiobuccal (MB) and mesiolingual (ML) canals (D1), the buccolingual width(L1) and mesiodistal width (L2) of mesial roots, and the flatness degree(L1/L2) of mesial roots.
Experiences with HIV stigma, among other barriers, in oral healthcare settings in Türkiye.
AIDS Care
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Faculty of Medicine, Department of Internal Medicine, Department of Public Health, Hacettepe University, Ankara, Türkiye.
Oral healthcare settings can be a challenging environment for people with HIV. Combined with problematic insurance policies, insufficient health literacy, and higher treatment fees, HIV stigma contributes to barriers when accessing oral healthcare. We conducted a descriptive study via an online survey with open-ended questions to understand the experiences of people with HIV in oral healthcare settings.
View Article and Find Full Text PDFComprehensive management and oral rehabilitation of amelogenesis imperfecta: a multidisciplinary treatment approach.
BMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
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