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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFRationale and Design of the HERZCHECK trial: Detection of Early Heart Failure Using Telemedicine and CMR in Structurally Weak Regions (NCT05122793).
J Cardiovasc Magn Reson
January 2025
Department of Cardiology, Angiology and Intensive Care Medicine, Deutsches Herzzentrum der Charité, Augustenburger Platz 1, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Background And Aims: Heart failure (HF) is an imminent global health problem. Yet established screening algorithms for asymptomatic pre-HF, allowing for early and effective preventive interventions, are largely lacking. The HERZCHECK trial, conducted in structurally underserved rural regions of North-Eastern Germany, aims to close this gap by evaluating the feasibility, diagnostic efficacy, and cost-effectiveness of a fully mobile, telemedically-supervised screening approach, combining cardiac magnetic resonance imaging (CMR) and laboratory testing as central elements.
View Article and Find Full Text PDFImpact of low-carbon economic policies on the corporate environmental responsibility model in China.
PLoS One
January 2025
School of Finance and Economics, Hainan Vocational University of Science and Technology, Haikou, China.
This study investigates the impact of low-carbon economic policies on Corporate Environmental Responsibility (CER) in Chinese A-share listed companies, with a particular focus on the role of financing constraints as a mediating factor. Despite a decrease in environmental pollution incidents in 2022, the economic and social impacts of such incidents remain significant, highlighting the need for stronger environmental governance. Building upon previous research, this study utilizes data from the Shanghai and Shenzhen stock exchanges (2010-2020) and employs a Difference-in-Differences (DID) model to assess the effects of low-carbon economic policies introduced in 2016 on CER.
View Article and Find Full Text PDFConsolidation in an Era of Population Health and Value-Based Care: Implications For Effectiveness, Costs, and Equity.
Med Care
January 2025
Chair Health Systems & Population Health Sciences, Fertitta College of Medicine, University of Houston, Houston, TX.
Consolidation of health care providers, and vertical integration of physicians with hospitals and/or payers has accelerated over the past 15 years. Although there is potential for consolidation to improve patient care, efficiencies and reduce overhead costs, participants in our conference identified that almost all research on consolidation has shown increased cost without improvement in outcomes or the experience of care. To provide a framework for considering the impact of consolidation, future research and analysis we offer 4 themes: (1) to move forward, we need to look back at historical drivers, value creation, and unintended consequences; (2) not all consolidation is created equally; (3) real-time, continuous evaluation is critical for improvement; and (4) a policy blueprint is desperately needed.
View Article and Find Full Text PDFscRNA-seq reveals involvement of monocytes in immune response in SLE patients.
Genomics
January 2025
Anhui University of Science and Technology, Huainan 232000, China. Electronic address:
Background: Systemic Lupus Erythematosus (SLE) is a typical autoimmune disease characterized by a complex pathogenesis and a strong genetic predisposition. The study of inflammatory response in SLE monocytes is not very clear, and exploring the inflammatory factors of monocytes is beneficial to discover new diagnostic targets.
Results: Using scRNA-seq technology, we obtained the quantitative changes in circulating immune cells and various cellular immune metabolic profiles between SLE patients and healthy volunteers.
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