Precision medicine promises to dramatically improve patient outcomes and reduce health care costs through a shift in focus from disease treatment to prevention and individualized therapies. For families with inherited cardiomyopathies, efforts to date have been directed toward discovery and functional characterization of single disease-causing variants. With advances in sequencing, the cataloging of personal genetic variation has been expedited, providing improved insights into the key importance of the genes in which variants occur. These advances have propelled seminal opportunities for successful variant-targeted disease-reversing therapy. New challenges have also emerged-particularly interpretation of the rapidly rising numbers of "variants of unknown significance." For treatments based on patient genotype to be feasible on a wider scale, these obstacles need to be overcome. Here the authors focus on genetics of dilated cardiomyopathy and provide a roadmap for implementing genomic information into future patient management.
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http://dx.doi.org/10.1016/j.jacc.2019.10.011 | DOI Listing |
Nucleosides Nucleotides Nucleic Acids
January 2025
Faculty of Agriculture and Allied Sciences, C.V. Raman Global University, Bhubaneswar, India.
The field of biomedical science has witnessed another milestone with the advent of RNA-based therapeutics. This review explores three major RNA molecules, namely: messenger RNA (mRNA), RNA interference technology (RNAi), and Antisense Oligonucleotide (ASO), and analyses U.S.
View Article and Find Full Text PDFInt J Cardiovasc Imaging
January 2025
Artificial Intelligence Center, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Coronary artery calcification (CAC) is a key marker of coronary artery disease (CAD) but is often underreported in cancer patients undergoing non-gated CT or PET/CT scans. Traditional CAC assessment requires gated CT scans, leading to increased radiation exposure and the need for specialized personnel. This study aims to develop an artificial intelligence (AI) method to automatically detect CAC from non-gated, freely-breathing, low-dose CT images obtained from positron emission tomography/computed tomography scans.
View Article and Find Full Text PDFPsychooncology
January 2025
Cancer Prevention Precision Control Institute, Center for Discovery and Innovation, Hackensack Meridian Health, Nutley, New Jersey, USA.
Background: Although scanxiety is common and impactful for people with advanced lung cancer, few interventions address this psychosocial concern.
Aims: To create a stress management program for scanxiety.
Methods: We conducted a structured intervention adaptation process guided by the ADAPT-ITT framework.
Protein Cell
January 2025
Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou 510080, China.
Extensive epigenetic reprogramming involves in memory CD8+ T-cell differentiation. The elaborate epigenetic rewiring underlying the heterogeneous functional states of CD8+ T cells remains hidden. Here, we profile single-cell chromatin accessibility and map enhancer-promoter interactomes to characterize the differentiation trajectory of memory CD8+ T cells.
View Article and Find Full Text PDFPrehosp Emerg Care
January 2025
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
Objectives: Abusive head trauma (AHT) is a leading cause of death in young children. Analyses of patient characteristics presenting to Emergency Medical Services (EMS) are often limited to structured data fields. Artificial Intelligence (AI) and Large Language Models (LLM) may identify rare presentations like AHT through factors not found in structured data.
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