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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
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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 PDFAssociations between systemic inflammatory biomarkers and metabolic dysfunction associated steatotic liver disease: a cross-sectional study of NHANES 2017-2020.
BMC Gastroenterol
January 2025
Department of Gastroenterology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a primary cause of chronic liver disease, with potential progression to cirrhosis and hepatocellular carcinoma (HCC). Although systemic inflammatory biomarkers are associated with liver diseases, their specific role in MASLD remains unclear. This study examines the association between systemic inflammatory biomarkers and MASLD.
View Article and Find Full Text PDFHarnessing multivariate insights coupled with susceptibility indices to reveal morpho-physiological and biochemical traits in heat tolerance of cotton.
BMC Plant Biol
January 2025
Plant Breeding and Genetics Division, Nuclear Institute for Agriculture and Biology (NIAB), Faisalabad, Pakistan.
Cotton is essential for the global textile industry however, climate change, especially extreme temperatures, threatens sustainable cotton production. This research aims to identify breeding strategies to improve heat tolerance and utilize stress-resistant traits in cotton cultivars. This study investigated heat tolerance for 50 cotton genotypes at the seedling stage by examining various traits at three temperatures (32 °C, 45 °C and 48 °C) in a randomized plot experiment.
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
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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 PDFEngaging Patients in Discussions About Medication Deprescribing.
J Gen Intern Med
January 2025
Center for Health Optimization and Implementation Research, VA Boston Healthcare System and VA Bedford Healthcare System, Boston and Bedford, MA, USA.
Background: Deprescribing, intentional medication discontinuation or dose reduction, can reduce potentially inappropriate medication use and medication-related harms. Engaging patients in deprescribing discussions may increase likelihood of deprescribing and promote shared decision-making.
Objective: To examine the impact of patient-directed educational brochures on patient engagement and deprescribing discussions with primary care providers (PCPs).
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