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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFWellbeing and the Lived Experience of Injured Workers Following Finalisation of a Workers' Compensation Claim.
J Occup Rehabil
January 2025
Faculty of Health Sciences, Curtin School of Allied Health, Curtin University, Perth, WA, Australia.
Purpose: Workers' compensation claims can negatively affect the wellbeing of injured workers. For some, these negative effects continue beyond finalisation of the workers' compensation claim. It is unclear what factors influence wellbeing following finalisation of a workers' compensation claim.
View Article and Find Full Text PDFTreatment patterns for chronic obstructive pulmonary disease under the tiered medical system.
Sci Rep
January 2025
Department of Respiratory and Critical Care Medicine, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
China has implemented the "tiered medical services" policy since 2015, while there is a paucity of data evaluating the the current status of chronic obstructive pulmonary disease (COPD) management under the system. Characteristics and treatments from 11,905 COPD patients in 88 hospitals across different tiers in China were included and analyzed. We assessed the statistical significance of differences by one way analysis of variance (ANOVA) for continuous variables and with the chi-squared test for categorical variables.
View Article and Find Full Text PDFUnveiling nature's antidiabetic potential in Berberis orthobotrys seeds for alloxan-induced diabetic rats.
Sci Rep
January 2025
Department of Biotechnology, College of Science, Taif University, P.O. Box 11099, Taif, 21944, Saudi Arabia.
To illustrate the anti-diabetic properties of Berberis orthobotrys seeds was the aim of the current study. After a series of experiments, two doses of aqueous methanolic extract of the seeds were selected i.e.
View Article and Find Full Text PDFSegmentation aware probabilistic phenotyping of single-cell spatial protein expression data.
Nat Commun
January 2025
Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Spatial protein expression technologies can map cellular content and organization by simultaneously quantifying the expression of >40 proteins at subcellular resolution within intact tissue sections and cell lines. However, necessary image segmentation to single cells is challenging and error prone, easily confounding the interpretation of cellular phenotypes and cell clusters. To address these limitations, we present STARLING, a probabilistic machine learning model designed to quantify cell populations from spatial protein expression data while accounting for segmentation errors.
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