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Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
Case Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFAutomated extraction of post-stroke functional outcomes from unstructured electronic health records.
Eur Stroke J
January 2025
Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA.
Purpose: Population level tracking of post-stroke functional outcomes is critical to guide interventions that reduce the burden of stroke-related disability. However, functional outcomes are often missing or documented in unstructured notes. We developed a natural language processing (NLP) model that reads electronic health records (EHR) notes to automatically determine the modified Rankin Scale (mRS).
View Article and Find Full Text PDFOptimizing the graft size in the Evans osteotomy to minimize the calcaneocuboid joint pressure by highly realistic in-silico analysis.
Sci Rep
January 2025
Division of Mechanical and Biomedical Engineering, Ewha Womans University, Seoul, 03760, Republic of Korea.
This contribution details a new high-fidelity finite element analysis (FEA) methodology for the investigation of the effect of the graft size on the pressure distribution developing at the calcaneocuboid joint after the Evans osteotomy procedure. The FEA model includes all 28 bones of the foot up to the distal end of fibula and tibia as well as soft tissues, tendons, and muscles. The developed FEA model was validated by comparing the in-vivo pressure distribution on the foot plantar with the in-silico results, resulting in a low deviation equal to 7.
View Article and Find Full Text PDFThe impact of cycling on the physical and mental health, and quality of life of people with disabilities: a scoping review.
Front Sports Act Living
January 2025
Department of Human Movement Science, Sport and Health, University of Graz, Graz, Austria.
Adaptive cycling holds potential for promoting physical and mental health among individuals with disabilities, who often face barriers to traditional cycling and other forms of exercise. This scoping review systematically examines existing scientific literature to assess the effects of adaptive cycling on the physical and mental health of individuals with disabilities. Following a widely recognized methodological scoping review framework, 35 qualitative and quantitative studies were identified through comprehensive database searches and manual screenings.
View Article and Find Full Text PDFVisual impairment prevention by early detection of diabetic retinopathy based on stacked auto-encoder.
Sci Rep
January 2025
Department of Robotics, Hanyang University, Ansan, 15588, Republic of Korea.
Diabetic retinopathy (DR) presents a significant concern among diabetic patients, often leading to vision impairment or blindness if left untreated. Traditional diagnosis methods are prone to human error, necessitating accurate alternatives. While various computer-aided systems have been developed to assist in DR detection, there remains a need for accurate and efficient methods to classify its stages.
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