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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFSurgical and oncological implications of the presence of hepatic artery anatomical variations in patients undergoing pancreaticoduodenectomy: a single center experience.
Updates Surg
January 2025
Pancreatic and Endocrine Surgical Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy.
The presence of an aberrant right hepatic artery (a-RHA) could influence the oncological and postoperative outcomes after pancreaticoduodenectomy (PD). A comparative study was conducted, including patients who underwent PD with a-RHA or with normal RHA anatomy. The primary endpoints were R1 resection in all margins (pancreatic, anterior, posterior, superior mesenteric artery, and portal groove), overall survival (OS), and disease-free survival (DFS).
View Article and Find Full Text PDFGlobal regional and national burden of intracerebral hemorrhage between 1990 and 2021.
Sci Rep
January 2025
Department of Vascular Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
Intracerebral hemorrhage (ICH) represents one of the most devastating forms of stroke, characterized by spontaneous bleeding into the brain parenchyma. This neurological emergency carries a substantial burden of mortality and long-term disability worldwide. A comprehensive understanding of ICH's evolving global impact from 1990 to 2021 remains essential for healthcare planning and resource allocation.
View Article and Find Full Text PDFMachine learning web application for predicting varicose veins utilizing global prevalence data.
Phlebology
January 2025
Department of Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Aim: This study aimed to develop a web-based machine learning (ML) model to predict the lifetime likelihood of developing varicose veins using global disease prevalence data.
Methods: We utilized data from a systematic review, registered under PROSPERO (CRD42021279513), which included 81 studies on varicose vein prevalence across various geographic regions. The data used to build the ML model included disease prevalence as the outcome (%), along with the following predictors: mean age, gender distribution (%), mean body mass index (BMI) of the study cohort, and the mean gravity field of the study region (mGal), representing variations in Earth's underground mass distribution that influence blood and fluid redistribution in the human body, affecting disease prevalence.
Scrub typhus association with autoimmune biomarkers and clinical implications.
PLoS Negl Trop Dis
January 2025
Department of Internal Medicine, Jeonbuk National University Medical School, Jeonju, Republic of Korea.
Background: Scrub typhus, a disease caused by Orientia tsutsugamushi, triggers systemic vasculitis and is prevalent in Eastern and Southern Asia. This study aimed to uncover the relationship between scrub typhus and autoimmune responses, focusing on antinuclear antibodies (ANAs) and the implications of elevated ANA titers during infection.
Method: Data from a total of 139 patients diagnosed with scrub typhus and 30 healthy controls were retrospectively analyzed through serum samples to assess the levels of ANAs and related autoantibodies.
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