To achieve a single fully harmonised research data set suitable for analysis from data collected at multiple sites requires not only semantic integration of collection concepts and convergence onto single collection units, but harmonisation of data collection processes. We describe our experience of identifying harmonisation challenges in the Precision ALS project, with particular focus on process alignment challenges in a multi-site multi-national research data collection project.
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http://dx.doi.org/10.3233/SHTI240675 | DOI Listing |
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
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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.
View Article and Find Full Text PDFRheumatol Int
December 2024
Department of General Practice N2, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
We discuss the paper recently published in Rheumatology Internationa. This article reflects on the prevalence of autoimmune rheumatic diseases (ARD) during the COVID-19 pandemic (2020-2023) and compares the same with the pre-pandemic period (2016-2019). We assume that SARS-CoV-2 triggers ARD.
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December 2024
Division of Rheumatology, Department of Internal Medicine, Sorlandet Hospital, Kristiansand, Norway.
Axial spondyloarthritis (ax-SpA) causes pain, fatigue, stiffness, loss of physical function, and poor health status, which can influence sexual activity and enjoyment. To explore whether patients with ax-SpA perceive that their health status effects their sexual activity and to identify predictors of these perceived effects on sexual activity after a 5-year follow-up. Data about demographics, disease, medication, health-related quality of life (HRQOL), and sexual quality of life (SQOL) were collected at the baseline and 5-year follow-up.
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December 2024
Department of Anesthesiology, The First Hospital of Putian City, Putian, China.
This study aimed to investigate the relationship between unintentional weight loss and 30-day mortality in sepsis patients in the intensive care unit (ICU). A retrospective cohort study sepsis patients in the ICU was conducted using data from the Medical Information Mart for Intensive Care IV (MIMIC-IV) database, involving 1842 sepsis patients in the ICU. We utilized multivariate Cox regression analysis to evaluate the association between unintentional weight loss and the risk of 30-day mortality.
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