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https://www.readbyqxmd.com/read/29033513/the-endothelial-nitric-oxide-synthase-nos3-786t-c-genetic-polymorphism-in-chronic-heart-failure-effects-of-mutant-786c-allele-on-long-term-mortality
#1
Sait Terzi, Ayşe Emre, Kemal Yesilcimen, Selçuk Yazıcı, Aysun Erdem, Ufuk Sadik Ceylan, Figen Ciloglu
BACKGROUND: Nitric oxide plays an important role in the regulation of basal vascular tone and cardiac myocyte function. We investigated the NOS3-786T>C polymorphism in chronic heart failure (CHF) and its effects on long-term mortality. METHODS: Ninety-one patients with CHF who were referred to the Department of Cardiology of Siyami Ersek Cardiovascular and Thoracic Surgery Center for cardiopulmonary exercise testing between April 2001 and January 2004 and 30 controls were enrolled in this study...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#2
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
October 17, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28986455/genomic-triangulation-and-coverage-analysis-in-whole-exome-sequencing-based-molecular-autopsies
#3
Garrett W Shanks, David J Tester, Sneha Nishtala, Jared M Evans, Michael J Ackerman
BACKGROUND: WEMA (Whole-Exome Molecular Autopsy) and surveillance of cardiac channelopathy and cardiomyopathy genes represents the latest molecular autopsy for sudden death in the young (SDY). To date, the majority of WEMA has been performed on the SDY case only. METHODS AND RESULTS: We performed whole-exome sequencing and nucleotide-level coverage analysis on 28 SDY cases (18.4±7.8 years) and their parents to determine the inheritance patterns of ultrarare, nonsynonymous variants in 99 sudden death-susceptibility genes...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28984111/dysfunctional-lamins-as-mediators-of-oxidative-stress-in-emery-dreifuss-muscular-dystrophy
#4
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined. The total oxidant/antioxidant status in serum was examined in 29 cases of Emery-Dreifuss muscular dystrophy. The study included 12 autosomal-dominant laminopathies (AD-EDMD), 17 X-linked emerinopathies (X-EDMD) and 20 age-matched normal subjects. Total oxidant status (TOS) was reduced in all cases, and the total antioxidant capacity (TAC) was found to be decreased in the majority of the patients (in 82...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28984030/epigenetics-for-the-pediatric-cardiologist
#5
Andrew D Spearman
A genetic basis of congenital heart disease (CHD) has been known for decades. In addition to the sequence of the genome, the contribution of epigenetics to pediatric cardiology is increasingly recognized. Multiple epigenetic mechanisms, including DNA methylation, histone modification, and RNA-based regulation, are known mediators of cardiovascular disease, including both development and progression of CHD and its sequelae. Basic understanding of the concepts of epigenetics will be essential to all pediatric cardiologists in order to understand mechanisms of pathophysiology, pharmacotherapeutic concepts, and to understand the role of epigenetics in precision medicine...
October 5, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28971649/-rambam-where-medicine-technology-and-humanity-intertwine
#6
Rafael Beyar
In this issue, we present a series of articles written by Rambam's physicians, which reflect the scope of research that takes place in the hospital. This incorporates physicians, nurses and related professions, and progress in health care attained through research and technology-based medicine. A central part of our values is a combination of medicine, technology and humanity. Thanks to our unique location in close proximity to the Technion's Baruch and Ruth Rappaport Faculty of Medicine, our commitment to the combination of research and medicine has a unique impact...
September 2017: Harefuah
https://www.readbyqxmd.com/read/28949844/when-bins-blur-patient-perspectives-on-categories-of-results-from-clinical-whole-genome-sequencing
#7
Leila Jamal, Jill O Robinson, Kurt D Christensen, Jennifer Blumenthal-Barby, Melody J Slashinski, Denise Lautenbach Perry, Jason L Vassy, Julia Wycliff, Robert C Green, Amy L McGuire
BACKGROUND: Clinical genome and exome sequencing (CGES) is being used in an expanding range of clinical settings. Most approaches to offering patients choices about learning CGES results classify results according to expert definitions of clinical actionability. Little is known about how patients conceptualize different categories of CGES results. METHODS: The MedSeq Project is a randomized controlled trial studying the use of whole-genome sequencing (WGS) in primary care and cardiology...
April 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/28948327/abnormal-longitudinal-growth-of-the-aorta-in-children-with-familial-bicuspid-aortic-valve
#8
Holly Nadorlik, Jessica L Bowman, Sara Fitzgerald-Butt, May Ling Mah, Kim L McBride, John P Kovalchin, Vidu Garg
Bicuspid aortic valve (BAV) is the most common type of congenital heart defect (CHD) and is associated with clinically significant cardiovascular complications including valve calcification and ascending aortopathy (AscAo), predominantly occurring in adulthood. While a limited number of genetic etiologies for BAV have been defined, family members of affected individuals display BAV along with other left-sided CHD. This has led to guidelines from the American Heart Association and American College of Cardiology that recommend echocardiographic screening of first-degree relatives of affected adults...
September 25, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#9
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28898880/personalized-management-of-cardiovascular-disorders
#10
Kewal K Jain
Personalized management of cardiovascular disorders (CVDs), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is the selection of best treatment for an individual patient. It involves the integration of various 'omics' technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring of therapy. Because CVDs involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms and modeling of personalized benefit-of-treatment may be helpful for guiding choice of intervention...
September 11, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28888913/the-renaissance-of-lipoprotein-a-brave-new-world-for-preventive-cardiology
#11
REVIEW
Katrina L Ellis, Michael B Boffa, Amirhossein Sahebkar, Marlys L Koschinsky, Gerald F Watts
Lipoprotein(a) [Lp(a)] is a highly heritable cardiovascular risk factor. Although discovered more than 50 years ago, Lp(a) has recently re-emerged as a major focus in the fields of lipidology and preventive cardiology owing to findings from genetic studies and the possibility of lowering elevated plasma concentrations with new antisense therapy. Data from genetic, epidemiological and clinical studies have provided compelling evidence establishing Lp(a) as a causal risk factor for atherosclerotic cardiovascular disease...
September 6, 2017: Progress in Lipid Research
https://www.readbyqxmd.com/read/28886926/2017-focused-update-of-the-2016%C3%A2-acc%C3%A2-expert-consensus-decision-pathway-on-the-role-of-non-statin-therapies-for-ldl-cholesterol-lowering-in%C3%A2-the-management-of-atherosclerotic-cardiovascular-disease-risk-a-report-of-the-american-college-of-cardiology-task-force
#12
Donald M Lloyd-Jones, Pamela B Morris, Christie M Ballantyne, Kim K Birtcher, David D Daly, Sondra M DePalma, Margo B Minissian, Carl E Orringer, Sidney C Smith
In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28883714/vascular-aging-and-subclinical-atherosclerosis-why-such-a-never-ending-and-challenging-story-in-cardiology
#13
EDITORIAL
Stela Iurciuc, Anca Maria Cimpean, Florin Mitu, Rodica Heredea, Mircea Iurciuc
The true onset of atherosclerosis remains one of the biggest challenges for cardiologists. Is atheroma plaque development considered the earliest step of vascular aging? If so, when it starts? Before or after birth? If it starts before birth or early during childhood, it seems that Thomas Sydenham was right: "A man is as old as his arteries." Except disorganization of elastic fibers, less is known about the morphology of vascular aging and also about the molecular events influencing the age of arteries, arterial stiffness, and their role in the appearance of future complications...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28880457/development-of-quality-metrics-for-ambulatory-care-in-pediatric-patients-with-tetralogy-of-fallot
#14
Juan Villafane, Thomas C Edwards, Karim A Diab, Gary M Satou, Elizabeth Saarel, Wyman W Lai, Gerald A Serwer, Peter P Karpawich, Russell Cross, Russell Schiff, Devyani Chowdhury, Thomas J Hougen
OBJECTIVE: The objective of this study was to develop quality metrics (QMs) relating to the ambulatory care of children after complete repair of tetralogy of Fallot (TOF). DESIGN: A workgroup team (WT) of pediatric cardiologists with expertise in all aspects of ambulatory cardiac management was formed at the request of the American College of Cardiology (ACC) and the Adult Congenital and Pediatric Cardiology Council (ACPC), to review published guidelines and consensus data relating to the ambulatory care of repaired TOF patients under the age of 18 years...
September 7, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28880023/sudden-infant-death-syndrome-and-inherited-cardiac-conditions
#15
REVIEW
Alban-Elouen Baruteau, David J Tester, Jamie D Kapplinger, Michael J Ackerman, Elijah R Behr
Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality in developed countries, characterized by the death of infants for no obvious reason and without prior warning. The complex interaction of multiple factors in the pathogenesis of SIDS is illustrated by the 'triple risk hypothesis', which proposed that SIDS results from a convergence of three overlapping risk factors: a critical developmental period, an exogenous stressor, and underlying genetic and/or nongenetic vulnerability in the infant...
September 7, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28877973/heritable-pulmonary-hypertension-from-bench-to-bedside
#16
REVIEW
Barbara Girerd, Jason Weatherald, David Montani, Marc Humbert
Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28854079/identification-of-patients-with-statin-intolerance-in-a-managed-care-plan-a-comparison-of-2-claims-based-algorithms
#17
Brandon K Bellows, Amy M Sainski-Nguyen, Cody J Olsen, Susan H Boklage, Scott Charland, Matthew P Mitchell, Diana I Brixner
BACKGROUND: While statins are safe and efficacious, some patients may experience statin intolerance or treatment-limiting adverse events. Identifying patients with statin intolerance may allow optimal management of cardiovascular event risk through other strategies. Recently, an administrative claims data (ACD) algorithm was developed to identify patients with statin intolerance and validated against electronic medical records. However, how this algorithm compared with perceptions of statin intolerance by integrated delivery networks remains largely unknown...
September 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#18
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28808507/cyp2c19-genetic-variation-and-individualized-clopidogrel-prescription-in-a-cardiology-clinic
#19
Seyed Abbas Mirabbasi, Koroush Khalighi, Yin Wu, Stanley Walker, Bahar Khalighi, Wuqiang Fan, Archana Kodali, Gang Cheng
Background: Clopidogrel (Plavix) is an antiplatelet medication that is routinely used in patients with cardiovascular disease. Cytochrome P2C19 enzymes play a major role in its metabolism, which determines its varied therapeutic level and its effectiveness. Objectives: To customize clopidogrel therapy and evaluate its efficacy by using CYP2C19 genotypic and phenotypic information to improve clinical outcomes in patients. Methods: A total of 465 patients with underlying cardiovascular disease were selected from our out-patient cardiology clinic...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#20
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
October 2017: Current Opinion in Pediatrics
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