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https://www.readbyqxmd.com/read/29423274/a-diseasome-cluster-based-drug-repurposing-of-soluble-guanylate-cyclase-activators-from-smooth-muscle-relaxation-to-direct-neuroprotection
#1
Friederike Langhauser, Ana I Casas, Vu-Thao-Vi Dao, Emre Guney, Jörg Menche, Eva Geuss, Pamela W M Kleikers, Manuela G López, Albert-L Barabási, Christoph Kleinschnitz, Harald H H W Schmidt
Network medicine utilizes common genetic origins, markers and co-morbidities to uncover mechanistic links between diseases. These links can be summarized in the diseasome, a comprehensive network of disease-disease relationships and clusters. The diseasome has been influential during the past decade, although most of its links are not followed up experimentally. Here, we investigate a high prevalence unmet medical need cluster of disease phenotypes linked to cyclic GMP. Hitherto, the central cGMP-forming enzyme, soluble guanylate cyclase (sGC), has been targeted pharmacologically exclusively for smooth muscle modulation in cardiology and pulmonology...
2018: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/29389816/lomitapide-in-homozygous-familial-hypercholesterolemia-cardiology-perspective-from-a-single-center-experience
#2
Simona Sperlongano, Felice Gragnano, Francesco Natale, Laura D'Erasmo, Claudia Concilio, Arturo Cesaro, Enrica Golia, Mario Crisci, Rossella Sperlongano, Fabio Fimiani, Mariagiovanna Russo, Marcello Arca, Giuseppe Limongelli, Paolo Calabrò
AIMS: Homozygous familial hypercholesterolemia (HoFH) is a genetic dyslipidemia characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerosis. Frequently, traditional lipid-lowering therapy is ineffective in these patients, and lipoprotein apheresis is required. Lomitapide has been recently approved for HoFH. We reported our experience in HoFH patients treated with lomitapide, evaluating its efficacy and safety profile. METHODS: Probands suspected for familial hypercholesterolemia were extrapolated from the registry of patients admitted to our cardiology department...
March 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29378019/the-cardiomyopathy-registry-of-the-eurobservational-research-programme-of-the-european-society-of-cardiology-baseline-data-and-contemporary-management-of-adult-patients-with-cardiomyopathies
#3
Philippe Charron, Perry M Elliott, Juan R Gimeno, Alida L P Caforio, Juan Pablo Kaski, Luigi Tavazzi, Michal Tendera, Carole Maupain, Cécile Laroche, Pawel Rubis, Ruxandra Jurcut, Leonardo Calò, Tiina M Heliö, Gianfranco Sinagra, Marija Zdravkovic, Aušra Kavoliuniene, Stephan B Felix, Jacek Grzybowski, Maria-Angela Losi, Folkert W Asselbergs, José Manuel García-Pinilla, Joel Salazar-Mendiguchia, Katarzyna Mizia-Stec, Aldo P Maggioni
Aims: The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. Methods and results: A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]...
January 24, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29374175/three-dimensional-reconstruction-and-nurbs-based-structured-meshing-of-coronary-arteries-from-the-conventional-x-ray-angiography-projection-images
#4
Arso M Vukicevic, Serkan Çimen, Nikola Jagic, Gordana Jovicic, Alejandro F Frangi, Nenad Filipovic
Despite its two-dimensional nature, X-ray angiography (XRA) has served as the gold standard imaging technique in the interventional cardiology for over five decades. Accordingly, demands for tools that could increase efficiency of the XRA procedure for the quantitative analysis of coronary arteries (CA) are constantly increasing. The aim of this study was to propose a novel procedure for three-dimensional modeling of CA from uncalibrated XRA projections. A comprehensive mathematical model of the image formation was developed and used with a robust genetic algorithm optimizer to determine the calibration parameters across XRA views...
January 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29358015/the-portuguese-registry-of-hypertrophic-cardiomyopathy-overall-results
#5
Nuno Cardim, Dulce Brito, Luís Rocha Lopes, António Freitas, Carla Araújo, Adriana Belo, Lino Gonçalves, Jorge Mimoso, Iacopo Olivotto, Perry Elliott, Hugo Madeira
INTRODUCTION: We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. METHODS: A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. RESULTS: A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years...
January 19, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#6
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 16, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29333691/the-innate-immune-system-in-chronic-cardiomyopathy-a-european-society-of-cardiology-esc-scientific-statement-from-the-working-group-on-myocardial-function-of-the-esc
#7
REVIEW
Stefan Frantz, Ines Falcao-Pires, Jean-Luc Balligand, Johann Bauersachs, Dirk Brutsaert, Michele Ciccarelli, Dana Dawson, Leon J de Windt, Mauro Giacca, Nazha Hamdani, Denise Hilfiker-Kleiner, Emilio Hirsch, Adelino Leite-Moreira, Manuel Mayr, Thomas Thum, Carlo G Tocchetti, Jolanda van der Velden, Gilda Varricchi, Stephane Heymans
Activation of the immune system in heart failure (HF) has been recognized for over 20 years. Initially, experimental studies demonstrated a maladaptive role of the immune system. However, several phase III trials failed to show beneficial effects in HF with therapies directed against an immune activation. Preclinical studies today describe positive and negative effects of immune activation in HF. These different effects depend on timing and aetiology of HF. Therefore, herein we give a detailed review on immune mechanisms and their importance for the development of HF with a special focus on commonalities and differences between different forms of cardiomyopathies...
January 15, 2018: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29300387/patient-understanding-of-satisfaction-with-and-perceived-utility-of-whole-genome-sequencing-findings-from-the-medseq-project
#8
J Scott Roberts, Jill O Robinson, Pamela M Diamond, Archana Bharadwaj, Kurt D Christensen, Kaitlyn B Lee, Robert C Green, Amy L McGuire
PurposeTo examine patients' experiences with clinical use of whole-genome sequencing (WGS).MethodsA randomized trial compared primary care and cardiology patients receiving WGS and family health history (FH) information or FH information alone. 202 patients were surveyed before (BL) and up to 6 months after disclosure of results (6M).ResultsPatients (mean age = 55 years; 50% female; 81% college graduates) reported low levels of decisional regret (mean: 7.1/100) and high satisfaction with physicians' disclosure of results (median: 29/30)...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29297191/angiographic-advancement-of-the-coronary-disease-and-the-cardiovascular-risk-at-the-acute-coronary-syndrome-in-patients-with-the-metabolic-syndrome
#9
Katarzyna Widecka-Ostrowska, Krzysztof Safranow, Maciej Lewandowski, Krzysztof Przybycień, Jarosław Gorący, Zdzisława Kornacewicz-Jach
BACKGROUND: Extent of angiographic lesions, size of infarct and in-hospital and distant prognosis in patients with the metabolic syndrome have been not clearly determined. Detailed knowledge of markers both for ACS occurrence as well as those affecting early and further prognosis will have key significance at taking correct preventive and therapeutic decisions. AIM: Comparing in patients with first ACS treated with coronary angioplasty the advancement of coronary disease and the cardiovascular risk evaluated using GRACE 2...
January 3, 2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29295838/genetic-evidence-that-carbohydrate-stimulated-insulin-secretion-leads-to-obesity
#10
Christina M Astley, Jennifer N Todd, Rany M Salem, Sailaja Vedantam, Cara B Ebbeling, Paul L Huang, David S Ludwig, Joel N Hirschhorn, Jose C Florez
BACKGROUND: A fundamental precept of the carbohydrate-insulin model of obesity is that insulin secretion drives weight gain. However, fasting hyperinsulinemia can also be driven by obesity-induced insulin resistance. We used genetic variation to isolate and estimate the potentially causal effect of insulin secretion on body weight. METHODS: Genetic instruments of variation of insulin secretion [assessed as insulin concentration 30 min after oral glucose (insulin-30)] were used to estimate the causal relationship between increased insulin secretion and body mass index (BMI), using bidirectional Mendelian randomization analysis of genome-wide association studies...
January 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29280052/patient-and-provider-perspectives-on-the-development-of-personalized-medicine-a-mixed-methods-approach
#11
Lauren Puryear, Natalie Downs, Andrea Nevedal, Eleanor T Lewis, Kelly E Ormond, Maria Bregendahl, Carlos J Suarez, Sean P David, Steven Charlap, Isabella Chu, Steven M Asch, Neda Pakdaman, Sang-Ick Chang, Mark R Cullen, Latha Palaniappan
While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution...
December 27, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29173988/non-compaction-cardiomyopathy-a-short-review-of-a-controversial-entity
#12
REVIEW
Rebeca Lorca, José Rozado, María Martín
Non-compaction cardiomyopathy is a heterogeneous and complex entity concerning which there are still many doubts to be resolved. While the American Heart Association includes it among genetic cardiomyopathies, the European Society of Cardiology treats it as an unclassified cardiomyopathy. It may present in a sporadic or familial form, isolated or associated with other heart diseases, affecting only the left ventricle or both and can sometimes appear as a mixed phenotype in patients with other cardiomyopathies...
November 22, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#13
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29133215/myocardial-infarction-and-gut-microbiota-an-incidental-connection
#14
REVIEW
Sepideh Zununi Vahed, Abolfazl Barzegari, Marisol Zuluaga, Didier Letourneur, Graciela Pavon-Djavid
Myocardial infarction (MI) is the main cause of cardiovascular crises that entails serious concerns in mortality, morbidity, and cost to the society. The main therapeutic goal of modern cardiology is to develop novel approaches to minimize inflammation, myocardial necrosis/apoptosis, and enhance cardiac repair after MI. Though MI can be affected by genetic and environmental factors, the search for targeting lifestyle factors has been of greater interest. One such potential factor is the microbiota, the human intestinal microbial community...
November 10, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29095976/lamin-a-c-cardiomyopathy-young-onset-high-penetrance-and-frequent-need-for-heart-transplantation
#15
Nina Eide Hasselberg, Trine Fink Haland, Jørg Saberniak, Pål Haugar Brekke, Knut Erik Berge, Trond Paul Leren, Thor Edvardsen, Kristina Hermann Haugaa
Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography...
October 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29079493/is-adenosine-associated-with-sudden-death-in-schizophrenia-a-new-framework-linking-the-adenosine-pathway-to-risk-of-sudden-death
#16
REVIEW
Ary Gadelha, André Zugman, Mariana Bendlin Calzavara, Remo Holanda de Mendonça Furtado, Fulvio Alexandre Scorza, Rodrigo Afonsecca Bressan
Schizophrenia is associated with an increased mortality from cardiovascular disease. Relatively few studies have assessed the putative association of schizophrenia pathophysiology with sudden death. Low adenosine levels have been associated with schizophrenia. In cardiology, increased mortality among patients with congestive heart failure has been associated with genetic polymorphisms that potentially lead to lower adenosine levels. Thus, we hypothesize that adenosine could link schizophrenia and cardiovascular mortality, with decreased adenosine levels leading to increased vulnerability to hyperexcitability following hypoxic insults, increasing the odds of fatal arrhythmias...
January 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29067974/telomere-length-as-a-potential-biomarker-of-coronary-artery-disease
#17
REVIEW
Joyeeta Bhattacharyya, Keichiro Mihara, Deborshi Bhattacharjee, Manjarí Mukherjee
Coronary artery disease (CAD) is a multifactorial disease whose prevalence remains unabated especially in developing countries. Both lifestyle factors and genetic predisposition contribute to this disorder. Though notable achievements have been made in the medical, interventional and surgical management of CAD, the need for its prevention is more important. Among other modalities, this calls for defining evidence-based new biomarkers, which on their own or in combination with other known biomarkers may predict the risk of CAD to enable institution of appropriate preventive strategies...
June 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29064067/stem-cells-in-regenerative-cardiology
#18
Semih Arbatlı, Galip Servet Aslan, Fatih Kocabaş
The common prevalence of heart failure and limitations in its treatment are leading cause of attention and interest towards the induction of cardiac regeneration with novel approaches. Recent studies provide growing evidence regarding bona fide cardiac regeneration post genetic manipulations, administration of stimulatory factors and myocardial injuries in animal models and human studies. To this end, stem cells of different sources have been tested to treat heart failure for the development of cellular therapies...
October 25, 2017: Advances in Experimental Medicine and Biology
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
#19
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
#20
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...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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