We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDA gene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions.
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http://dx.doi.org/10.1002/ana.20421 | DOI Listing |
J Radiol Prot
January 2025
The University of Manchester, Manchester, M13 9PL, UNITED KINGDOM OF GREAT BRITAIN AND NORTHERN IRELAND.
Epidemiological studies of nuclear industry workers are of substantial importance to understanding the risk of cancer consequent to low-level exposure to radiation, and these studies should provide vital evidence for the construction of the international system of radiological protection. Recent studies involve large numbers of workers and include health outcomes for workers who accumulated moderate (and even high) doses over prolonged periods while employed during the earlier years of the nuclear industry. The interpretation of the findings of these recent studies has proved to be disappointingly difficult.
View Article and Find Full Text PDFEye Contact Lens
January 2025
Department of Ophthalmology (O.O.), Niğde Ömer Halisdemir University, Niğde, Turkey; Department of Ophthalmology (O.D.), Mersin University, Mersin, Turkey; Department of Ophthalmology (P.E.), Tarsus State Hospital, Mersin, Turkey; and Department of Ophthalmology (E.S.G.), Mersin State Hospital, Mersin, Turkey.
Objectives: To investigate the effect of cataract surgery on visual acuity, stereoacuity, balance, and falls in patients with senile cataract.
Methods: Prospective, cross-sectional study. The patients were divided into group 1 if the first surgery was performed on the dominant eye and group 2 on the nondominant eye.
PLoS One
January 2025
Department of Orthopaedics, Lanzhou University Second Hospital, Lanzhou, Gansu Province, China.
Purpose: This meta-analysis was carried out to evaluate the clinical effectiveness of rotator cuff repair surgery in treating rotator cuff tears in individuals with mild glenohumeral osteoarthritis (GHOA).
Methods: A computer-based search was conducted across multiple databases including PubMed, Embase, Web of Science, and Cochrane Library using the keywords "Shoulder Joints", "Osteoarthrosis", and "rotator cuff". Only studies focusing on patients with GHOA who underwent rotator cuff repair were considered for inclusion.
Sleep Breath
January 2025
Pulmonary Medicine, Universidad Austral, Hospital Universitario Austral, Pilar, Argentina.
Purpose: Obstructive sleep apnea (OSA) affects up to 936 million adults globally and is linked to significant health risks, including neurocognitive impairment, cardiovascular diseases, and metabolic conditions. Despite its prevalence, OSA remains largely underdiagnosed. This study aimed to enhance OSA awareness and risk assessment using the STOP-Bang questionnaire in a telemedicine format.
View Article and Find Full Text PDFClin Oral Investig
January 2025
Rio de Janeiro State University, Rio de Janeiro, Brazil.
Aim: Assess the prevalence and severity of molar incisor hypomineralization (MIH) in children 6- to 12-year-old and correlate MIH severity with the complexity of treatment demands.
Materials And Methods: Between March and October 2023, 2,136 children were screened for MIH by two calibrated examiners. MIH severity was categorized in mild, moderate, severe, and very severe.
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