Journal of thrombosis and haemostasis : JTH
May 7, 2024
BACKGROUND: Hemophilia A (HA) is an X-linked congenital bleeding disorder, which leads to deficiency of clotting factor (F) VIII. It mostly affects males, and females are considered carriers. However, it is now recognized that variants of F8 in femal...
Inherited arrhythmia disorders account for a significant proportion of sudden cardiac death, particularly among young individuals. Recent advances in our understanding of these syndromes have improved patient diagnosis and care, yet certain clinical ...
Integration of multiple data sources presents a challenge for accurate prediction of molecular patho-phenotypic features in automated analysis of data from human model systems. Here, we applied a machine learning-based data integration to distinguish...
Distinguishing clinical subgroups for patients suffering with diseases characterized by a wide phenotypic spectrum is essential for developing precision therapies. Patients with gain-of-function (GOF) variants in the SCN8A gene exhibit substantial cl...
The mechanisms underlying the many phenotypic manifestations of post-acute COVID-19 syndrome (PACS) are poorly understood. Herein, we characterized the gut microbiome in heterogeneous cohorts of subjects with PACS and developed a multi-label machine ...
Journal of cachexia, sarcopenia and muscle
Apr 22, 2024
BACKGROUND: Computed tomography (CT) body compositions reflect age-related metabolic derangements. We aimed to develop a multi-outcome deep learning model using CT multi-level body composition parameters to detect metabolic syndrome (MS), osteoporosi...
American journal of physiology. Cell physiology
Apr 22, 2024
Bleomycin (BLM)-induced lung injury in mice is a valuable model for investigating the molecular mechanisms that drive inflammation and fibrosis and for evaluating potential therapeutic approaches to treat the disease. Given high variability in the BL...
PURPOSE: Patients with spinal cord injuries (SCIs) experience variable urinary symptoms and quality of life (QOL). Our objective was to use machine learning to identify bladder-relevant phenotypes after SCI and assess their association with urinary s...
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