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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFCross-Sectoral Comparisons of Process Quality Indicators of Health Care Across Residential Regions Using Restricted Mean Survival Time.
Med Care
November 2024
Institute of Clinical Biometrics, Center for Medical Data Science, Medical University of Vienna, Vienna, Austria.
Background: Practice guidelines recommend patient management based on scientific evidence. Quality indicators gauge adherence to such recommendations and assess health care quality. They are usually defined as adverse event rates, which may not fully capture guideline adherence over time.
View Article and Find Full Text PDFMitochondrial epigenetics brings new perspectives on doubly uniparental inheritance in bivalves.
Sci Rep
December 2024
Department of Biological Sciences, Université de Montréal, Montréal, QC, Canada.
Mitochondrial epigenetics, particularly mtDNA methylation, is a flourishing field of research. MtDNA methylation appears to play multiple roles, including regulating mitochondrial transcription, cell metabolism and mitochondrial inheritance. In animals, bivalves with doubly uniparental inheritance (DUI) of mitochondria are the exception to the rule of maternal mitochondrial inheritance since DUI also involve a paternal mtDNA transmitted from the father to sons.
View Article and Find Full Text PDFUncovering the complexity of source mechanism in an anisotropic coal mine using sequential inversion.
Sci Rep
December 2024
Department of Geophysics, Graduate School of Science, Tohoku University, Sendai, 980-8578, Japan.
Accurate characterisation of seismic source mechanisms in mining environments is crucial for effective hazard mitigation, but it is complicated by the presence of anisotropic geological conditions. Neglecting anisotropic effects during moment tensor (MT) inversion introduces significant distortions in the retrieved source characteristics. In this study, we investigated the impact of ignoring anisotropy during MT inversion on the reliability of hazard assessment.
View Article and Find Full Text PDFGold nanoclusters/manganese dioxide nanosheets hybrid nanozyme with fluorescence and oxidase-like activity for dual-mode detection of acetylcholinesterase and inhibitors screening.
Anal Bioanal Chem
December 2024
College of Pharmacy, Key Laboratory of Innovative Drug Development and Evaluation, Hebei Medical University, Shijiazhuang, 050017, China.
The abnormal expression of acetylcholinesterase (AChE) is linked to the development of various diseases. Accurate determination of AChE activity as well as screening AChE inhibitors (AChEIs) holds paramount importance for early diagnosis and treatment of AChE-related diseases. Herein, a fluorescent and colorimetric dual-channel probe based on gold nanoclusters (AuNCs) and manganese dioxide nanosheets (MnO NSs) was developed.
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