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Motor neuron diseases are not exclusively motor; the SSR paradigm.
Amyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
View Article and Find Full Text PDFAlternative splicing of vascular calcification: Insights, opportunities, and challenges.
Cell Signal
January 2025
Jinhua Advanced Research Institute, Jinhua 321019, China. Electronic address:
Vascular calcification(VC) significantly increases the risk of cardiovascular events, leading to thickening of the myocardium and arteries, coronary heart disease, heart failure, and potentially triggering myocardial infarction and sudden cardiac death. Although VC is a reversible process, there are currently no methods or medications in clinical practice that can completely reverse or cure it. The current treatment strategies primarily focus on slowing the progression of VC and exploring new diagnostic and therapeutic approaches, making the identification of early diagnostic markers for VC particularly important.
View Article and Find Full Text PDFPatient Preferences in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Screening and ICD Implantation: Canadian ARVC Registry Substudy.
CJC Open
January 2025
Population Health Research Institute, Hamilton, Ontario, Canada.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically diagnosed following an arrhythmic event or during screening after a family member experiences sudden cardiac death. Implantation of a defibrillator (ICD) improves survival but can be associated with morbidity and risks, an important consideration within a shared decision-making context. This study examined patient decisional needs and preferences surrounding ARVC screening and prophylactic ICD implantation.
View Article and Find Full Text PDFImplementation of a Sudden Cardiac Death Risk Prediction Tool in Clinical Practice Through Electronic Health Records (INSERT-HCM Study Design).
CJC Open
January 2025
Genetics and Genome Biology, Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sudden cardiac death is a leading cause of mortality in children with hypertrophic cardiomyopathy (HCM). The PRecIsion Medicine in CardiomYopathy consortium developed a validated tool (PRIMaCY) for sudden cardiac death risk prediction to help with implantable cardioverter defibrillator shared decision-making, as recommended by clinical practice guidelines. The mplemeting a udden Cardiac Dath isk Assessment ool in hildhood (INSERT-HCM) study aims to implement PRIMaCY into electronic health records (EHRs) and assess implementation determinants and outcomes.
View Article and Find Full Text PDFPioneering Use of Extracorporeal Life Support in Intraoperative Cardiac Arrest in Dubai: A Case Report.
Cureus
December 2024
Department of Anaesthesia and Intensive Care, Latifa Hospital, Dubai Health, Dubai, ARE.
We describe, to our knowledge, the first use in Dubai of extracorporeal life support (ECLS) in a patient who suffered intraoperative cardiac arrest due to presumed cardiac channelopathy. A 40-year-old patient presented for open myomectomy surgery. She had no other medical problems apart from obesity.
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