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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 PDFDevelopment and application of a clinical core data set for deep brain stimulation in Parkinson's disease, dystonia or tremor: from data collection to data exchange and data sharing.
Neurol Res Pract
January 2025
Institute of Clinical Epidemiology and Biometry, Julius-Maximilians-Universität Würzburg (JMU), Haus D7, Josef-Schneider-Straße 2, 97080, Würzburg, Germany.
Background: Comprehensive clinical data regarding factors influencing the individual disease course of patients with movement disorders treated with deep brain stimulation might help to better understand disease progression and to develop individualized treatment approaches.
Methods: The clinical core data set was developed by a multidisciplinary working group within the German transregional collaborative research network ReTune. The development followed standardized methodology comprising review of available evidence, a consensus process and performance of the first phase of the study.
Prospective multi-centre analysis of rural trauma team development training for medical trainees and traffic law enforcement professionals in Uganda: an interrupted time series study.
BMC Med Educ
January 2025
Heidelberg Institute of Global Health (HIGH), University Hospital and University of Heidelberg, Heidelberg, Germany.
Background: Research shows that trauma team formation could potentially improve effectiveness of injury care in rural settings. The aim of this study was to determine the feasibility of rural trauma team training amongst medical trainees and traffic law enforcement professionals in Uganda.
Methods: Prospective multi-centre interrupted time series analysis of an interventional training based on the 4th edition of rural trauma team development course of the American College of Surgeons.
Exploring the role of oxidative stress in carotid atherosclerosis: insights from transcriptomic data and single-cell sequencing combined with machine learning.
Biol Direct
January 2025
National Key Laboratory for Innovation and Transformation of Luobing Theory; The Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Jinan, China.
Background: Carotid atherosclerotic plaque is the primary cause of cardiovascular and cerebrovascular diseases. It is closely related to oxidative stress and immune inflammation. This bioinformatic study was conducted to identify key oxidative stress-related genes and key immune cell infiltration involved in the formation, progression, and stabilization of plaques and investigate the relationship between them.
View Article and Find Full Text PDFmHealth Incentivized Adherence Plus Patient Navigation (MIAPP): protocol for a pilot randomized controlled trial to improve linkage and retention on buprenorphine for hospitalized patients with methamphetamine use and opioid use disorder.
Addict Sci Clin Pract
January 2025
Department of Medicine, Division of General Internal Medicine, University of Washington/Harborview Medical Center, 325 9Th Avenue, Box 359780, Seattle, WA, 98104, USA.
Background: Initiation of buprenorphine for treatment of opioid use disorder (OUD) in acute care settings improves access and outcomes, however patients who use methamphetamine are less likely to link to ongoing treatment. We describe the intervention and design from a pilot randomized controlled trial of an intervention to increase linkage to and retention in outpatient buprenorphine services for patients with OUD and methamphetamine use who initiate buprenorphine in the hospital.
Methods: The study is a two-arm pilot randomized controlled trial (N = 40) comparing the mHealth Incentivized Adherence Plus Patient Navigation (MIAPP) intervention to treatment as usual.
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