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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFProspective Analysis of Central Nervous System Infection Risks in Varicella-Zoster Virus Reactivation Cases: A Single-Center Prospective Study of 1030 Cases.
Med Sci Monit
December 2024
Department of Neurology, HangZhou Third People's Hospital, Hangzhou, Zhejiang, China.
BACKGROUND This study aimed to analyze the risk factors of central nervous system (CNS) infection caused by reactivation of varicella zoster virus (VZV) and provide reference for the prevention and early diagnosis of VZV-associated CNS infection. MATERIAL AND METHODS A prospective study was conducted on 1030 patients with acute herpes zoster (HZ) admitted to our hospital from January 2021 to June 2023. According to clinical manifestations and auxiliary examinations, they were divided into HZ group of 990 patients and VZV-associated CNS infection group of 40 patients.
View Article and Find Full Text PDFCross-Sectoral Comparisons of Process Quality Indicators of Health Care Across Residential Regions Using Restricted Mean Survival Time.
Med Care
November 2024
Institute of Clinical Biometrics, Center for Medical Data Science, Medical University of Vienna, Vienna, Austria.
Background: Practice guidelines recommend patient management based on scientific evidence. Quality indicators gauge adherence to such recommendations and assess health care quality. They are usually defined as adverse event rates, which may not fully capture guideline adherence over time.
View Article and Find Full Text PDFEstimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.
Biochem Genet
December 2024
College of Medical Laboratory, Dalian Medical University, Dalian, 116044, People's Republic of China.
This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence.
View Article and Find Full Text PDFAssessment of myocardial infarctions knowledge, attitudes and beliefs among adults living in Riyadh Saudi Arabia - insights from cross-sectional study.
Sci Rep
December 2024
Department of Optometry, College of Applied Medical Sciences, King Saud University, Riyadh, 11451, Saudi Arabia.
Globally, the prevalence of coronary artery disease (CAD) is increasing, accounting for a third of all deaths worldwide including myocardial infarctions (MIs) which represent the most severe clinical manifestation of CAD and are among the most dangerous coronary events. Therefore, this study aims to assess the knowledge of symptoms and risk factors of MIs, as well as attitudes and beliefs regarding MIs and confidence in recognizing CAD symptoms in Riyadh, Saudi Arabia. A cross-sectional study was conducted among individuals living in Riyadh, Saudi Arabia between November 2023 and April 2024 to assess their knowledge and beliefs about CAD and MIs.
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