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Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.
Mol Inform
January 2025
Institute of Pharmaceutical and Medicinal Chemistry, University of Münster, Corrensstr. 48, 48149, Muenster, Germany.
Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of PCD-causing mutations, focusing on the N32S variant. Using an alpha-fold model, molecular dynamics simulations reveal altered interactions and dynamics suggesting potential mechanistic changes in carnitine transport.
View Article and Find Full Text PDFAltered circadian rhythmicity of the QT interval predicts mortality in a large real-world academic hospital population.
Heliyon
January 2025
Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
Objective And Rationale: Small studies have shown that the QT interval follows a circadian rhythm. This finding has never been confirmed in a large real-world hospital population and the clinical meaning of disrupted rhythmicity remains unknown.
Methods: In this cohort study, all consecutive adult patients with at least one 12-lead ECG acquired between 1991 and 2021 were considered.
Development, Optimization, and Evaluation of Rutin-Loaded Liposomes in the Management of Rheumatoid Arthritis.
Curr Drug Deliv
January 2025
Department of Pharmaceutical Sciences, Gurugram University, Gurugram - 122018, India.
Background: Rheumatoid arthritis is a chronic autoimmune disease, progressively distinctive via cartilage destruction, auto-antibody production, severe joint pain, and synovial inflammation. Nanotechnology represents one of the utmost promising scientific technologies of the 21st century. Nanocarriers could be the key to unlocking its potential by encapsulating Rutin in targeted drug delivery systems, potentially for targeted Rheumatoid arthritis therapy.
View Article and Find Full Text PDFPrecision psychiatry: thinking beyond simple prediction models - enhancing causal predictions.
Br J Psychiatry
January 2025
Department of Psychiatry, University of Cambridge, Cambridge, UK.
Making informed clinical decisions based on individualised outcome predictions is the cornerstone of precision psychiatry. Prediction models currently employed in psychiatry rely on algorithms that map a statistical relationship between clinical features (predictors/risk factors) and subsequent clinical outcomes. They rely on associations that overlook the underlying causal structures within the data, including the presence of latent variables, and the evolution of predictors and outcomes over time.
View Article and Find Full Text PDFAn introduction to MyBFF@school, a school-based childhood obesity intervention program: a cluster randomized controlled trial.
BMC Public Health
January 2025
Department of Pediatrics, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, 50603, Malaysia.
Obesity trend among Malaysian children is on the rise. Noting that the tendency for them to grow into obese adults and the relationship of obesity to many non-communicable diseases, the My Body is Fit and Fabulous at School (MyBFF@school program) was designed to combat obesity among the schoolchildren. The program was piloted in 2014 in Putrajaya, Malaysia.
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