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Development of a User-Centred Chronic Care Model for Patients With Heart Failure in a Limited-Resource Setting: A Codesign Study.
Health Expect
February 2025
School of Nursing and Midwifery, Deakin University, Victoria, Australia.
Background: Health service leaders in Thailand face substantial challenges in addressing the needs of a growing population of patients with moderate to severe Chronic Heart Failure (CHF) who require acute care management and ongoing supportive care in the community. The large number of CHF patients requiring readmission for high-level care places a significant burden on healthcare services.
Methods: The design thinking model proposed by the Hasso-Plattner Institute of Design at Stanford University underpinned an approach to developing a co-designed, tailored, culturally acceptable model of chronic care for people with CHF.
When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.
Am J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFObsessive-compulsive personality disorder increases cognitive inflexibility in people with coronary artery disease.
Compr Psychiatry
December 2024
Laboratory of Behavioral Medicine, Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas-Palanga, Lithuania.
Background: Cardiovascular diseases such as coronary artery disease (CAD) have a high prevalence of psychiatric comorbidities, that may impact clinically relevant outcomes (e.g., cognitive impairment and executive dysfunction).
View Article and Find Full Text PDFCritical procedural steps in intrauterine transfusion: Delphi survey of international experts.
Ultrasound Obstet Gynecol
January 2025
Division of Fetal Medicine, Department of Obstetrics and Gynecology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Objective: To determine consensus, using Delphi methodology, on the critical procedural steps for intravascular intrauterine transfusion (IUT) for the treatment of fetal anemia.
Methods: We conducted a two-part Delphi survey of international experts in fetal intervention. The first round of the survey proposed 32 potentially critical steps for the IUT procedure.
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Genome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
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