Review
Immunology
Erica L. Katz, John E. Harris
Summary: Vitiligo is a skin disease characterized by white spots, and significant progress has been made in understanding its pathogenesis over the past 30 years through perseverance, collaboration, and open-minded discussion. Researchers have explored various possible mechanisms through innervation, microvascular anomalies, oxidative stress, defects in melanocyte adhesion, autoimmunity, somatic mosaicism, and genetics, with animal models and improved patient sample collection methods playing important roles in translational studies.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Minh B. Nguyen, Seema Mital, Luc Mertens, Aamir Jeewa, Mark K. Friedberg, Julien Aguet, Arnon Adler, Christopher Z. Lam, Andreea Dragulescu, Harry Rakowski, Olivier Villemain
Summary: This review examines the association between genetic variations and outcomes in pediatric hypertrophic cardiomyopathy (HCM), discussing current approaches to phenotyping cardiovascular characteristics and exploring potential avenues for improving risk assessment of sudden cardiac death in children with HCM.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Biology
Dan Hu, Hector Barajas-Martinez, Zhong-He Zhang, Hong-Yi Duan, Qing-Yan Zhao, Ming-Wei Bao, Yi-Mei Du, Alexander Burashnikov, Michelle M. Monasky, Carlo Pappone, Cong-Xin Huang, Charles Antzelevitch, Hong Jiang
Summary: Atrial fibrillation (AF) is a common cardiac arrhythmia with a high prevalence worldwide. It is associated with an increased risk of death, stroke, and peripheral embolism. Despite genetic studies identifying AF-associated genes, their definitive impact is not yet established. This review discusses recent advances in understanding and managing AF, including epidemiology, genetics, pathophysiology, and potential treatment options.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger
Summary: A systematic curation of 51 genes related to DCM revealed that 19 genes have high evidence (12 definitive/strong, 7 moderate), but these genes only explain a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed.
Article
Psychology, Developmental
Arianna Manzini, Emily J. H. Jones, Tony Charman, Mayada Elsabbagh, Mark H. Johnson, Ilina Singh
Summary: This paper outlines the current research on early markers for autism and highlights the ethical concerns surrounding the understanding of children's neurodevelopment. It emphasizes the importance of collaboration between researchers, autistic individuals, and their families to address early interventions that accommodate diverse experiences and preferences.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Review
Genetics & Heredity
Hadley Stevens Smith, Kyle B. Brothers, Sara J. Knight, Sara L. Ackerman, Christine Rini, David L. Veenstra, Amy L. McGuire, Benjamin S. Wilfond, Janet Malek
Summary: The ambiguity in conceptualizing utility in translational genomics research can lead to communication challenges within research teams and study designs that do not meet stakeholder needs. By studying scholars' conceptual understanding of utility and term usage in different fields, researchers can increase clarity and cohesion in future research, helping to better integrate multidisciplinary investigations.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Nutrition & Dietetics
Ghassan Bkaily, Yanick Simon, Alexandre Normand, Ashley Jazzar, Houssein Najibeddine, Abdelouahed Khalil, Danielle Jacques
Summary: This study demonstrates that short-term treatment with taurine prevents cardiac hypertrophy associated with HCM in a sex-dependent manner, but prevents early death in a sex-independent fashion.
Article
Medicine, General & Internal
Barry J. Maron, Ethan J. Rowin, Shray P. Ambe, Martin S. Maron
Summary: This study found that patients with hypertrophic cardiomyopathy are now older and more likely to have outflow obstruction compared to previous years. However, the maximum left ventricular wall thickness has decreased. These observations may impact disease recognition and diagnostic criteria.
AMERICAN JOURNAL OF MEDICINE
(2022)
Review
Cell Biology
XueLi Cheng, Kai Wang, Yan Zhao, Kun Wang
Summary: Cardiovascular diseases (CVDs) are major threats to human health worldwide, and epigenetic changes have been extensively studied for their influence on CVDs. Post-translational modifications (PTMs) play important roles in the normal functioning of the cardiovascular system and can lead to CVDs. The article summarizes the mechanisms underlying several common PTMs involved in the occurrence and development of CVDs.
CELL DEATH DISCOVERY
(2023)
Review
Biochemistry & Molecular Biology
Valeria Olguin, Anyelo Duran, Macarena Las Heras, Juan Carlos Rubilar, Francisco A. Cubillos, Patricio Olguin, Andres D. Klein
Summary: We are all similar but have some differences, which are partially due to variations in our genomes. Most animal studies are performed using a single strain, but this lack of variability can lead to inconsistent treatments when translated to humans. Sequenced organism panels are valuable tools for simulating human heterogeneity and gene mapping. This review highlights the current knowledge of mouse, fly, and yeast panels and their applications in translational research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
News Item
Multidisciplinary Sciences
Nicky Phillips
Summary: Kathleen Folbigg, considered Australia's worst female serial killer after the deaths of her four young children, may have her conviction overturned with new genetic evidence.
Review
Psychiatry
Han Cao, Xudong Hong, Heike Tost, Andreas Meyer-Lindenberg, Emanuel Schwarz
Summary: This review discusses the potential utility and methodological development of multi-task learning (MTL) in multi-modal data analyses in neuroscience, and provides a step-by-step guide for its application.
FRONTIERS IN PSYCHIATRY
(2022)
Review
Cardiac & Cardiovascular Systems
YingYan Zhu, Dan Jackson, Benjamin Hunter, Lorna Beattie, Lisa Turner, Brett D. Hambly, Richmond W. Jeremy, Cassandra Malecki, Elizabeth N. Robertson, Amy Li, Cris dos Remedios, David Richmond, Christopher Semsarian, John F. O'Sullivan, Paul G. Bannon, Sean Lal
Summary: Biobanking in healthcare has evolved to become essential for modern medical research, with cardiovascular tissue biobanking providing a unique opportunity for translational research into heart failure and related pathologies. However, challenges like data collection, privacy issues, consent, and governance still need to be addressed in order to fully maximize the potential of tissue biobanking for advancing precision medicine in cardiovascular pathology.
Article
Biochemistry & Molecular Biology
Maryam Farazandeh, Maryam Mahmoudabady, Ali Akbar Asghari, Saeed Niazmand
Summary: Cinnamon extract can prevent diabetic heart damage by alleviating cardiac inflammation and fibrosis, in addition to its hypoglycemic and antioxidant properties.
JOURNAL OF FOOD BIOCHEMISTRY
(2022)
Article
Cardiac & Cardiovascular Systems
Rebecca K. Hughes, Claudia Camaioni, Joao B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon
Summary: This study revealed that regional and global impaired myocardial perfusion can occur in HCM mutation carriers, even in the absence of significant hypertrophy or scarring.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Review
Urology & Nephrology
Borja Quiroga, Alberto Ortiz, Juan F. Navarro-Gonzalez, Rafael Santamaria, Patricia de Sequera, Javier Diez
Summary: Cardiorenal syndromes refer to disorders of the heart and kidneys that mutually influence each other. Nephrologists need specialized training in cardiology and collaboration with cardiologists to address the challenges posed by these syndromes.
CLINICAL KIDNEY JOURNAL
(2023)
Review
Peripheral Vascular Disease
Javier Diez, Javed Butler
Summary: Hypertensive heart disease is a significant cause of heart failure and its prevalence has been increasing despite improvements in hypertension treatment. The prevention of heart failure in patients with hypertensive heart disease is an important unmet medical need. This article proposes a new perspective that focuses on the detection and reversal of histological changes in the hypertensive heart, particularly myocardial interstitial fibrosis.
Article
Cardiac & Cardiovascular Systems
Joao Pedro Ferreirra, John G. Cleland, Nicolas Girerd, Patrick Rossignol, Pierpaolo Pellicori, Franco Cosmi, Beatrice Mariottoni, Arantxa Gonzalez, Javier Diez, Scott D. Solomon, Brian Claggett, Marc A. Pfeffer, Bertram Pitt, Johannes Petutschnigg, Burkert Pieske, Frank Edelmann, Faiez Zannad
Summary: Spironolactone reduces serum concentrations of PICP in patients with HFpEF, indicating its anti-fibrotic effect.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Vishal N. Rao, Javier Diez, Finn Gustafsson, Robert J. Mentz, Michele Senni, Ewa A. Jankowska, Johann Bauersachs
Summary: Vericiguat is a recommended therapy for reducing morbidity and mortality in patients with worsening chronic heart failure. However, there are potential barriers to its prescription, such as lack of familiarity among providers and concerns about adverse effects. This review provides an overview of vericiguat therapy, proposes a guidance strategy, and summarizes patient counseling points.
JOURNAL OF CARDIAC FAILURE
(2023)
Review
Endocrinology & Metabolism
Robinson Ramirez-Velez, Arantxa Gonzalez, Antonio Garcia-Hermoso, Inigo Latasa Amezqueta, Mikel Izquierdo, Javier Diez
Summary: Exercise intolerance remains a major unmet medical need in patients with heart failure, and skeletal myopathy is considered as the major limiting factor. Recent studies have suggested that circulating myokines synthesized and secreted by skeletal muscle may provide new insights into the pathophysiology and classification of HF-related skeletal myopathy. These myokines may also serve as biomarkers to personalize physical training for patients with HF and exercise intolerance. Furthermore, the production and secretion of myokines in patients with HF may interact with systemic alterations and affect cardiac structure and function, which can influence adverse cardiac remodeling and clinical outcomes in HF patients.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2023)
Review
Hospitality, Leisure, Sport & Tourism
Antonio Garcia-Hermoso, Robinson Ramirez-Velez, Javier Diez, Arantxa Gonzalez, Mikel Izquierdo
Summary: This study investigates the effects of exercise training on exerkines in patients with type 2 diabetes mellitus and determines the optimal exercise prescription. The results show that exercise training can induce changes in exerkine levels, with positive effects on glycated hemoglobin, fasting glucose, waist circumference, and body mass. Therefore, exercise training is an important therapeutic approach for patients with type 2 diabetes mellitus.
JOURNAL OF SPORT AND HEALTH SCIENCE
(2023)
Article
Peripheral Vascular Disease
Maud van Dinther, Jonathan Bennett, George D. Thornton, Paulien H. M. Voorter, Ana Ezponda Casajus, Alun Hughes, Gabriella Captur, Robert J. Holtackers, Julie H. Staals, Walter Backes, Gorka Bastarika, Elizabeth A. V. Jones, Arantxa Gonzalez, Robert van Oostenbrugge, Thomas A. Treibel
Summary: Microvascular rarefaction plays an important role in the pathophysiology of vascular cognitive impairment and heart failure with preserved ejection fraction. Our consortium aims to investigate novel non-invasive tools to quantify microvascular health and rarefaction, and to find surrogate biomarkers for cerebral and/or cardiac rarefaction. The understanding of microvascular rarefaction may provide new avenues for research and therapeutic targets.
CEREBROVASCULAR DISEASES EXTRA
(2023)
Article
Cardiac & Cardiovascular Systems
Nicolas Girerd, Daniel Levy, Kevin Duarte, Joao Pedro Ferreira, Christie Ballantyne, Timothy Collier, Anne Pizard, Jens Bjoerkman, Javed Butler, Andrew Clark, John G. Cleland, Christian Delles, Javier Diez, Arantxa Gonzalez, Mark Hazebroek, Jennifer Ho, Anne-Cecile Huby, Shih-Jen Hwang, Roberto Latini, Beatrice Mariottoni, Alexandre Mebazaa, Pierpaolo Pellicori, Naveed Sattar, Peter Sever, Jan A. Staessen, Job Verdonschot, Stephane Heymans, Patrick Rossignol, Faiez Zannad
Summary: This study identified protein biomarkers associated with new-onset heart failure in three independent cohorts. The inclusion of these biomarkers in addition to clinical risk factors improved the prediction of heart failure risk. The B-type natriuretic peptide and N-terminal pro-B-type natriuretic peptide were found to be particularly relevant in predicting heart failure.
CIRCULATION-HEART FAILURE
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Javier Diez, Giuseppe M. C. Rosano, Javed Butler
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Editorial Material
Urology & Nephrology
Borja Quiroga, Javier Diez
Summary: The progressive reduction in estimated glomerular filtration rate (eGFR) resulting in chronic kidney disease (CKD) is associated with increased risk of cardiovascular disease (CVD). Creatinine plus cystatin C-based eGFR and cystatin C-based eGFR can better assess the risk of adverse cardiovascular outcomes. It is suggested to use cystatin C and/or creatinine plus cystatin C-based eGFR for routine clinical practice in cardiorenal patients to accurately stratify cardiovascular risk and evaluate the kidney and cardiovascular protective effects of SGLT2 inhibitors.
CLINICAL KIDNEY JOURNAL
(2023)
Review
Biochemistry & Molecular Biology
Susana Ravassa, Begona Lopez, Thomas A. Treibel, Gorka San Jose, Blanca Losada-Fuentenebroa, Leire Tapia, Antoni Bayes-Genis, Javier Diez, Arantxa Gonzalez
Summary: Heart failure is a major cause of mortality and hospitalization worldwide. Cardiac fibrosis, characterized by excessive collagen deposition, is common in heart failure and contributes to its development and poor clinical outcomes. However, specific cardiac antifibrotic therapies are currently lacking, making it an urgent unmet medical need. This review discusses the importance of phenotyping cardiac fibrosis in heart failure and the potential use of imaging techniques and circulating biomarkers for non-invasive characterization and tracking of this condition, as well as summarizes existing drugs with antifibrotic effects and potential strategies for targeting cardiac fibroblasts and extracardiac processes.
MOLECULAR ASPECTS OF MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Christoph Grani, Marius R. Bigler, Raymond Y. Kwong
Summary: The purpose of this review is to evaluate how noninvasive comprehensive anatomic- and physiologic evaluation can guide patient management for anomalous aortic origin of a coronary artery (AAOCA). The review explores the role of noninvasive multimodality imaging in characterizing AAOCA, with a focus on the pathophysiology of myocardial ischemia and stress testing protocols.
CURRENT CARDIOLOGY REPORTS
(2023)