218 results match your criteria: "Service of Internal Medicine and Vascular Pathology St. André Hospital[Affiliation]"
Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial.
Res Pract Thromb Haemost
November 2024
Hemocentro University of Campinas, Department of Internal Medicine, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
Background: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection.
Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment.
Methods: In the phase 3 GENEr8-1 trial, 134 adult male persons with severe hemophilia A without inhibitors and previously using FVIII prophylaxis received a 6 × 10 vg/kg infusion of valoctocogene roxaparvovec.
Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease.
Haemophilia
December 2024
Center for Thrombosis and Hemorrhagic Diseases, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Article Synopsis
Article Synopsis
- The text discusses the importance of forecasting future health issues in the USA for effective planning and public awareness regarding disease and injury burdens.
- It describes the methodology for predicting life expectancy, cause-specific mortality, and disability-adjusted life-years (DALYs) from 2022 to 2050 using the Global Burden of Diseases framework.
- The forecasting includes various scenarios to assess the potential impacts of health risks and improvements across the country, focusing on demographic trends and health-related risk factors.
International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.
Haemophilia
December 2024
Thrombosis and Hemostasis Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Introduction: Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact.
View Article and Find Full Text PDFScreening and surveillance practices for Multiple Endocrine Neoplasia type 1-related Neuroendocrine Tumours in European Neuroendocrine Tumor Society Centers of Excellence (ENETS CoE)-An ENETS MEN1 task force questionnaire study.
J Neuroendocrinol
November 2024
Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, the Netherlands.
Multiple Endocrine Neoplasia type 1 (MEN1) Clinical Practice Guidelines (2012) are predominantly based on expert opinion due to limited available evidence at the time, leaving room for interpretation and variation in practices. Evidence on the natural course of MEN1-related neuroendocrine tumours (NET) and the value of screening programs has increased and new imaging techniques have emerged. The aim of this study is to provide insight in the current practices of screening and surveillance for MEN1-related NETs in ENETS Centers of Excellence (CoEs).
View Article and Find Full Text PDFAntibiotic Treatment for 7 versus 14 Days in Patients with Bloodstream Infections.
N Engl J Med
November 2024
From the Division of Infectious Diseases, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto (N.D.), Sunnybrook Research Institute, Sunnybrook Health Sciences Centre, University of Toronto, Toronto (A.R.), the Department of Critical Care Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto (R. Pinto); the Department of Infectious Diseases, Monash University, Clayton, Melbourne, VIC, Australia (B.A.R.), the Department of Intensive Care, Monash Medical Centre, Melbourne, VIC, Australia (Y.S.); the Cardiothoracic and Vascular Intensive Care Unit, Auckland City Hospital, Auckland, New Zealand (R. Parke); the Department of Medicine, Faculty of Health Sciences, McMaster University, Hamilton, ON, Canada (D.C.); the Intensive Care Department, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia (Y.A.); the Department of Critical Care Medicine, Queen's University, Kingston, ON, Canada (J. Muscedere), the Department of Critical Care Medicine, Royal Columbian Hospital, Vancouver, BC, Canada (S. Reynolds), Critical Care Medicine, Capital District Health Authority, Dalhousie University, Halifax, NS, Canada (R.H.); Monash Medical Centre, Clayton, VIC, Australia (D.B.D.); Critical Care Medicine, Auckland City Hospital, New Zealand (C. McArthur), the Cardiothoracic and Vascular Intensive Care Unit, Auckland City Hospital, Auckland, New Zealand. (S. McGuinness); the Infectious Diseases Unit, Sheba Medical Center, Ramat-Gan, and Faculty of medicine, Ramat-Aviv, Tel-Aviv, Israel (D.Y.); Infectious Diseases, University Health Network, University of Toronto, Toronto (B.C.); Critical Care Medicine, North York General Hospital, Toronto (A.G., P.S.), Infectious Diseases, North York General Hospital, Toronto (P. Das), Critical Care Medicine, Mount Sinai Hospital, Unity Health Toronto, Toronto (M. Detsky), the Department of Medicine, University of Toronto, Toronto (A.M.); Sinai Health, Division of General Internal Medicine, Toronto, Toronto (M.F.), Infectious Diseases, Michael Garron Hospital, University of Toronto, Toronto (J.E.P.), Infectious Diseases, Michael Garron Hospital, Toronto (C. Kandel), Critical Care Medicine and Infectious Diseases, University of Alberta, Edmonton, Canada (W.S.), Department of Critical Care Medicine, University of Alberta and Alberta Health Services, Edmonton, Canada (S.M.B.), the Department of Medicine, Hamilton Health Sciences, McMaster University, Hamilton, ON, Canada (N.S.), the Department of Anaesthesia, Hamilton General Hospital, McMaster University, Hamilton, ON, Canada (E.B.-C.), the Faculty of Health Sciences, Hamilton General Hospital, McMaster University, Hamilton, ON, Canada (R.W.), the Departments of Surgery and Critical Care, McGill University Health Center, Montreal (K.K.); the Departments of Infectious Diseases and Pathology, Middlemore hospital, University of Auckland, New Zealand (S. Morpeth), Organ Donation New Zealand, New Zealand Blood Service, Auckland, New Zealand (A. Kazemi), Intensive Care Medicine, Middlemore Hospital, Auckland, New Zealand (A.W.); the Division of Infectious Diseases, Ottawa Hospital, Ottawa Hospital Research Institute, Ottawa (D.R.M.), the Department of Medicine, Ottawa Hospital, University of Ottawa, Ottawa (L.M.), Niagara Health Knowledge Institute, Niagara Health, St. Catharines, ON, Canada (J.T.), the Department of Medicine, Université de Sherbrooke, QC, Canada (F. Lamontagne); the Department of Microbiology and Infectious Diseases, Université de Sherbrooke, QC, Canada (A.C.), Surgery and Critical Care Medicine, Unity Health Toronto, University of Toronto, Toronto (J. Marshall); Critical Care and Medicine, Unity Health Toronto-St. Michael's Hospital, University of Toronto, Toronto (J.O.F.), Critical Care Medicine, Unity Health Toronto, Toronto (R.C.), the Department of Medicine, Unity Health Toronto, Toronto (M. Downing), the Department of Medicine, Infectious Diseases, Trillium Health Partners, University of Toronto, Toronto (C.G.); the School of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia (J.D.); the Division of Critical Care, Department of Medicine, McMaster University, Hamilton, ON, Canada (E.D.), St. Joseph's Healthcare Hamilton, McMaster University, Hamilton, ON, Canada (J.N.), the Department of Medicine (Infectious Diseases), Queen's University, Kingston, ON, Canada (G.E.); the Department of Medicine, King Faisal Specialist Hospital and Research Center, Al Faisal University, Jeddah, Saudi Arabia (B.A.), the Department of Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia (S.A.); the Department of Medicine, University of Western Ontario, London, Canada (C. Martin); the Department of Medicine, London Health Sciences Centre, London, ON, Canada (S.E.), the Department of Medicine, Western University, London, ON, Canada (I.B.), the Department of Medicine, Université Laval, Quebec, QC, Canada (F. Lauzier), the Department of Anesthesiology and Critical Care Medicine, Faculty of Medicine, Université Laval, Quebec, QC, Canada (A.T.), the Population Health and Optimal Health Practice Research Unit, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec, QC, Canada (A.T.), the Department of Critical Care, University of Calgary Cumming School of Medicine, Calgary, AB, Canada (H.T.S.), the Department of Medicine, University of Calgary and Alberta Health Services (Calgary), Calgary, AB, Canada (J.C.), the Division of General Internal Medicine, Department of Medicine, McGill University Health Centre, Montreal (E.G.M.), the Division of Infectious Diseases, Department of Medicine, McGill University, Montreal (T.C.L.); the Department Infectious Diseases, St. George Hospital, UNSW Medicine and Health, Sydney (R.S.); the Divisions of Infectious Diseases and Medical Microbiology, University of British Columbia, Vancouver, Canada (J.G.); the Intensive Care Unit, Rabin Medical Centers, Tel Aviv University, Tel Aviv, Israel (I.K.); the Intensive Care Research Programme, Medical Research Institute of New Zealand, Wellington, New Zealand (P.Y.), Medical Research Institute of New Zealand, Wellington, New Zealand. (C.L.); the Department of Infectious Diseases, Redcliffe Hospital, Redcliffe, QLD, Australia (K.O.), Infectious Diseases, Redcliffe Hospital, University of Queensland, Redcliffe, Australia (M.E.), Infectious Diseases, Sunshine Coast University Hospital, Sunshine Coast University Hospital, Birtinya, QLD, Australia (K.C.); Medicine, Centre Hospitalier de l'Université de Montréal, Université de Montréal, Montreal (P.A.); the Department of Anaesthesia, Rotorua Hospital, Rotorua, New Zealand (U.B.); Infectious Diseases, William Osler Health System, Brampton, ON, Canada (T. Havey), Critical Care Medicine, William Osler Health System, Brampton, ON, Canada (A.B.); the Department of Intensive Care Medicine, Bern University Hospital, University of Bern, Bern, Switzerland (J.P.); Brantford General Hospital, McMaster University, Brantford, ON, Canada (B.R.); the Intensive Care Unit, Fiona Stanley Hospital, University of Western Australia, Murdoch, WA, Australia (E.L.); the Department of Medicine, University of Manitoba, Winnipeg, Canada (S.L.), the Division of Critical Care Medicine and Infectious Diseases, Health Sciences Centre, University of Manitoba, Winnipeg, Canada (A. Kumar), the Department of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada (R.Z.); the Infectious Diseases Unit, Sheba Medical Center, Ramat Gan, Israel (T. Hoffman); the Infectious Diseases Unit, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia. (D.P.); Infectious Diseases, Memorial University, St. John's, NL, Canada (P. Daley); General and Subspecialty Medicine, Grampians Health Ballarat, Ballarat, VIC, Australia (R.J.C.); Service des soins intensifs, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal (E.C.), Critical Care Medicine, CIUSSS MCQ CHAUR, University of Montreal, Montreal (J.-F.N.); Clinical Microbiology and Infection Prevention and Control, Auckland Hospital, Auckland, New Zealand (S. Roberts); the Department of Intensive Care Medicine, Frankston Hospital, Frankston, VIC, Australia (R.T.), the Department of Intensive Care Medicine, Monash University, Melbourne, VIC, Australia (S.G.); the Department of Critical Care, Island Health Authority, Royal Jubilee Hospital, British Columbia, Victoria, Canada (G.W.); Infectious Diseases, Wollongong Hospital, Wollongong, NSW, Australia (O.S.), Infectious Diseases, Wollongong Hospital, University of Wollongong, Wollongong, NSW, Australia (S. Miyakis); the Department of Medicine, St. Paul's Hospital, University of British Columbia, Vancouver, Canada (P. Dodek), Infectious Diseases, Richmond Hospital, Richmond, BC, Canada (C. Kwok), and the Interdepartmental Division of Critical Care Medicine, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto (R.A.F.).
Background: Bloodstream infections are associated with substantial morbidity and mortality. Early, appropriate antibiotic therapy is important, but the duration of treatment is uncertain.
Methods: In a multicenter, noninferiority trial, we randomly assigned hospitalized patients (including patients in the intensive care unit [ICU]) who had bloodstream infection to receive antibiotic treatment for 7 days or 14 days.
Prediction of homologous recombination deficiency from routine histology with attention-based multiple instance learning in nine different tumor types.
BMC Biol
October 2024
Else Kroener Fresenius Center for Digital Health, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.
Article Synopsis
- Homologous recombination deficiency (HRD) is a key biomarker for predicting which cancer patients might respond to PARP inhibitors, but testing for HRD is complex.* -
- The researchers created a deep learning pipeline using attention-weighted multiple instance learning (attMIL) to predict HRD status from routine histology images, achieving varying accuracy rates across different cancer types.* -
- Results showed that HRD can be predicted directly from histology slides for multiple cancers, with the model demonstrating promising accuracy, particularly for endometrial, pancreatic, and lung cancers.*
Article Synopsis
- * Recent efforts to stop smoking haven't been put into action yet, and it’s important to see what could happen if smoking rates stay the same or improve.
- * Researchers used models to predict health outcomes by 2050 based on different scenarios of smoking rates, showing that cutting smoking could greatly improve health and life expectancy.
Corrigendum to "Development of an international glossary for clinical guidelines collaboration" "[Journal of Clinical Epidemiology 158 (2023) 84-91]".
J Clin Epidemiol
November 2024
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Otolaryngology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:
Inhibition of hepatic oxalate overproduction ameliorates metabolic dysfunction-associated steatohepatitis.
Nat Metab
October 2024
Department of Pathology and Translational Pathobiology, Louisiana State University Health Sciences Center-Shreveport, Shreveport, LA, USA.
The incidence of metabolic dysfunction-associated steatohepatitis (MASH) is on the rise, and with limited pharmacological therapy available, identification of new metabolic targets is urgently needed. Oxalate is a terminal metabolite produced from glyoxylate by hepatic lactate dehydrogenase (LDHA). The liver-specific alanine-glyoxylate aminotransferase (AGXT) detoxifies glyoxylate, preventing oxalate accumulation.
View Article and Find Full Text PDFArticle Synopsis
- Researchers studied strokes from 1990 to 2021 to understand how many people get them and how they are affected around the world.
- In 2021, strokes caused about 7.3 million deaths and were a major cause of health problems, especially in specific regions like Southeast Asia and Oceania.
- There are differences in stroke risks based on where people live and their age, and some areas actually saw more strokes happening since 2015.
Article Synopsis
- Moyamoya disease (MMD) is a rare condition that causes blood vessels in the brain to narrow and form weak new ones, leading to problems like speech loss.
- POEMS syndrome is another rare condition that has symptoms like nerve damage, organ enlargement, hormone issues, and skin changes.
- A 54-year-old man had both MMD and POEMS syndrome, and after proper testing and treatment, including special medications, his health improved, showing that it's important to diagnose and treat these complex conditions correctly.
Preoperative Chemoradiotherapy vs Chemotherapy for Adenocarcinoma of the Esophagogastric Junction: A Network Meta-Analysis.
JAMA Netw Open
August 2024
Institute of Medical Biometry, University of Heidelberg, Heidelberg, Germany.
Importance: The prognosis of patients with adenocarcinoma of the esophagus and esophagogastric junction (AEG) is poor. From current evidence, it remains unclear to what extent preoperative chemoradiotherapy (CRT) or preoperative and/or perioperative chemotherapy achieve better outcomes than surgery alone.
Objective: To assess the association of preoperative CRT and preoperative and/or perioperative chemotherapy in patients with AEG with overall survival and other outcomes.
Cardiovascular toxicities of immune therapies for cancer - a scientific statement of the Heart Failure Association (HFA) of the ESC and the ESC Council of Cardio-Oncology.
Eur J Heart Fail
October 2024
Cardio-Oncology Service, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK.
Article Synopsis
- Immunological therapies, including immune checkpoint inhibitors (ICIs) and cell-based therapies like CAR-T, have transformed cancer treatment by enabling the immune system to target cancer cells.
- While these therapies are generally effective, they can cause immune-related adverse events (irAEs) that vary in severity and timing, from mild skin rashes to serious complications such as myocarditis or cytokine release syndrome.
- The statement discusses the growing understanding of cardiovascular toxicities associated with these therapies, outlines their diagnosis and management, and identifies gaps in current research that need further exploration.
Atrial cardiomyopathy revisited-evolution of a concept: a clinical consensus statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asian Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).
Europace
August 2024
Hospital Renascentista, R. Salvador dos Santos Nora 76, Santa Doroteia - Pouso Alegre (Minas Gerais), 37553-628 Brazil.
Aims: The concept of "atrial cardiomyopathy" (AtCM) had been percolating through the literature since its first mention in 1972. Since then, publications using the term were sporadic until the decision was made to convene an expert working group with representation from four multinational arrhythmia organizations to prepare a consensus document on atrial cardiomyopathy in 2016 (EHRA/HRS/APHRS/SOLAECE expert consensus on atrial cardiomyopathies: definition, characterization, and clinical implication). Subsequently, publications on AtCM have increased progressively.
View Article and Find Full Text PDFA genome-wide association meta-analysis of all-cause and vascular dementia.
Alzheimers Dement
September 2024
Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.
Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.
Competency-based cardiac imaging for patient-centred care. A statement of the European Society of Cardiology (ESC). With the contribution of the European Association of Cardiovascular Imaging (EACVI), and the support of the Association of Cardiovascular Nursing & Allied Professions (ACNAP), the Association for Acute CardioVascular Care (ACVC), the European Association of Preventive Cardiology (EAPC), the European Association of Percutaneous Cardiovascular Interventions (EAPCI), the European Heart Rhythm Association (EHRA), and the Heart Failure Association (HFA) of the ESC.
Eur Heart J Imaging Methods Pract
September 2023
William Harvey Research Institute, Queen Mary University of London,Charterhouse Square, London EC1M 6BQ, United Kingdom.
Article Synopsis
- Imaging is essential for diagnosing and managing heart disease, and cardiologists must be skilled in cardiac imaging techniques and heart disease knowledge.
- The European Society of Cardiology has created a certification program to train cardiologists in all aspects of cardiac imaging for high-quality service delivery.
- This program promotes competency-based practices that enhance patient care through proper imaging processes from test selection to result analysis.
Standardization and clinical applications of retinal imaging biomarkers for cardiovascular disease: a Roadmap from an NHLBI workshop.
Nat Rev Cardiol
January 2025
Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Article Synopsis
- The text discusses how non-invasive and affordable eye imaging techniques can enhance the detection and monitoring of systemic diseases, particularly cardiovascular issues.
- A workshop held by the National Heart, Lung, and Blood Institute in October 2022 outlined research opportunities and knowledge gaps related to retinal biomarkers and their connection to cardiovascular diseases.
- Notable gaps include improving image capture methods, standardizing techniques for healthcare workers, integrating advanced imaging with lifestyle and health data, and leveraging AI to enhance risk identification in diverse populations.
Association of aortic diameters and mortality in the general population-an MRI-based study.
Eur Radiol
January 2025
Department of Radiology, University Hospital LMU Munich, Munich, Germany.
Background: Increased diameters of the aorta are associated with increased mortality risk. In the present analyses, we assessed whether aortic diameters are associated with cardiovascular and all-cause mortality in community-dwelling individuals free of known cardiovascular disease (CVD).
Methods: MRI-derived vascular parameters of the thoracic and abdominal aorta from 2668 participants (median age = 53 years; 51.
Involvement of the choroid plexus in Alzheimer's disease pathophysiology: findings from mouse and human proteomic studies.
Fluids Barriers CNS
July 2024
Department of Psychiatry and Neuropsychology, Alzheimer Centrum Limburg, School for Mental Health and Neuroscience, Maastricht University, P.O. Box 616, Maastricht, 6200 MD, The Netherlands.
Background: Structural and functional changes of the choroid plexus (ChP) have been reported in Alzheimer's disease (AD). Nonetheless, the role of the ChP in the pathogenesis of AD remains largely unknown. We aim to unravel the relation between ChP functioning and core AD pathogenesis using a unique proteomic approach in mice and humans.
View Article and Find Full Text PDFStudy of the impact of the vascular systemic risk factors on peripapillary vascular density by optical coherence tomography angiography.
Graefes Arch Clin Exp Ophthalmol
December 2024
Department of Immunology, Ophthalmology and ORL. IIORC, Faculty of Optics and Optometry, Complutense University of Madrid, Madrid, Spain.
Background: The focus of therapeutic tools in glaucoma has been mainly to control of intraocular pressure. Recently there has been a growing interest in investigating the relationship of vascular risk factors in the development of glaucoma. The aim of this study was to assess the association between systemic arterial hypertension, diabetes mellitus and hypercholesterolemia, and peripapillary vascularization measured by Optical Coherence Tomography Angiography (OCTA) in glaucoma and healthy subjects.
View Article and Find Full Text PDFSex and gender differences in cognitive resilience to aging and Alzheimer's disease.
Alzheimers Dement
August 2024
Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Sex and gender-biological and social constructs-significantly impact the prevalence of protective and risk factors, influencing the burden of Alzheimer's disease (AD; amyloid beta and tau) and other pathologies (e.g., cerebrovascular disease) which ultimately shape cognitive trajectories.
View Article and Find Full Text PDFDiagnosis of acute myocardial infarction in patients with renal failure using high-sensitivity cardiac troponin T.
Eur Heart J Acute Cardiovasc Care
July 2024
Department of Cardiovascular Diseases, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA.
Aims: Diagnosing myocardial infarction (MI) in patients with chronic kidney disease (CKD) is difficult as they often have increased high-sensitivity cardiac troponin T (hs-cTnT) concentrations.
Methods And Results: Observational US cohort study of emergency department patients undergoing hs-cTnT measurement. Cases with ≥1 hs-cTnT increase > 99th percentile were adjudicated following the Fourth Universal Definition of MI.
Scientific integrity in the era of predatory journals: Insights from an editors in chief symposium.
Br J Pharmacol
August 2024
Department of Pharmacology and Pharmacotherapy, Semmelweis University, Budapest, Hungary.
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.
Nat Cardiovasc Res
December 2023
Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Article Synopsis
- Coronary artery calcification (CAC) is linked to heart disease and assessed through a genome-wide association study (GWAS) involving 22,400 participants from various backgrounds.
- The study confirmed connections with four known genetic loci and discovered two new loci related to CAC, with supportive replication findings for both.
- Functional tests suggest that ARSE promotes calcification in vascular smooth muscle cells and its variants may influence CAC levels, identifying ARSE as a key target for potential treatments in vascular calcific diseases.