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Transcriptomic and genetic profiling in a spontaneous non-human primate model of hypertrophic cardiomyopathy and sudden cardiac death.
Sci Rep
December 2024
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC, 27607, USA.
Hypertrophic cardiomyopathy (HCM) afflicts humans, cats, pigs, and rhesus macaques. Disease sequelae include congestive heart failure, thromboembolism, and sudden cardiac death (SCD). Sarcomeric mutations explain some human and cat cases, however, the molecular basis in rhesus macaques remains unknown.
View Article and Find Full Text PDFLoss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
View Article and Find Full Text PDFA novel generative multi-task representation learning approach for predicting postoperative complications in cardiac surgery patients.
J Am Med Inform Assoc
December 2024
AI for Health Institute, Washington University in St Louis, St Louis, MO 63130, United States.
Objective: Early detection of surgical complications allows for timely therapy and proactive risk mitigation. Machine learning (ML) can be leveraged to identify and predict patient risks for postoperative complications. We developed and validated the effectiveness of predicting postoperative complications using a novel surgical Variational Autoencoder (surgVAE) that uncovers intrinsic patterns via cross-task and cross-cohort presentation learning.
View Article and Find Full Text PDFA hands-free carotid Doppler can identify spontaneous circulation without interrupting cardiopulmonary resuscitation: an animal study.
Intensive Care Med Exp
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Faculty of Nursing and Health Sciences, Nord University, Bodø, Norway.
Background: Identifying spontaneous circulation during cardiopulmonary resuscitation (CPR) is challenging. Current methods, which involve intermittent and time-consuming pulse checks, necessitate pauses in chest compressions. This issue is problematic in both in-hospital cardiac arrest and out-of-hospital cardiac arrest situations, where resources for identifying circulation during CPR may be limited.
View Article and Find Full Text PDFA novel translational bioinformatics framework for facilitating multimodal data analyses in preclinical models of neurological injury.
Sci Rep
December 2024
Resuscitation Science Center and Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Pediatric neurological injury and disease is a critical public health issue due to increasing rates of survival from primary injuries (e.g., cardiac arrest, traumatic brain injury) and a lack of monitoring technologies and therapeutics for treatment of secondary neurological injury.
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