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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 PDFMetabolic/bariatric surgery optimization: a position statement by Arabic association for the study of diabetes and metabolism (AASD).
Diabetol Metab Syndr
January 2025
Faculty of Medicine, Cairo University,Internal Medicine Diabetes and Endocrinology Department, Cairo, Egypt.
For patients considering bariatric surgery, it is essential to have clear answers to common questions to ensure the success of the procedure. Patients should understand that surgery is not a quick fix but a tool that must be complemented by lifestyle changes, including dietary adjustments and regular physical activity. The procedure carries potential risks that should be weighed against the potential benefits.
View Article and Find Full Text PDFCritical factors influencing live birth rates in fresh embryo transfer for IVF: insights from cluster ensemble algorithms.
Sci Rep
January 2025
Acupuncture and Tuina School, Chengdu University of Traditional Chinese Medicine, Chengdu, 610075, China.
Infertility has emerged as a significant global health concern. Assisted reproductive technology (ART) assists numerous infertile couples in conceiving, yet some experience repeated, unsuccessful cycles. This study aims to identify the pivotal clinical factors influencing the success of fresh embryo transfer of in vitro fertilization (IVF).
View Article and Find Full Text PDFIncreased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage.
Pediatr Res
January 2025
Department of Pediatrics, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI, USA.
Background: The immune heterogeneity of biliary atresia (BA) presents a challenge for development of prognostic biomarkers. This study aimed to identify early immune signatures associated with biliary drainage after Kasai Portoenterostomy (KPE).
Methods: Serum samples, liver slides, and clinical data were obtained from patients enrolled in the NIDDK-supported Childhood Liver Disease Research Network.
[Pathologies of joint endoprostheses : Histopathological diagnostics for endoprosthetic centers].
Pathologie (Heidelb)
January 2025
Orthopädische Klinik und Poliklinik, Universitätsmedizin Rostock, Rostock, Deutschland.
Joint endoprosthetics is one of the most successful surgical-orthopedic procedures worldwide, enabling pain reduction and complete restoration of mobility. In the Federal Republic of Germany, around 400,000 joint endoprostheses, hip and knee joints are currently implanted every year ( https://www.eprd.
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