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https://www.readbyqxmd.com/read/29665072/an-update-on-canine-cardiomyopathies-is-it-all-in-the-genes
#1
REVIEW
E Dutton, J López-Alvarez
Dilated cardiomyopathy is the second most common cardiac disease in dogs and causes considerable morbidity and mortality. Primary dilated cardiomyopathy is suspected to be familial, and genetic loci have been associated with the disease in a number of breeds. Because it is an adult-onset disease, usually with late onset, testing breeding dogs and bitches before breeding for a genetic mutation that could lead to dilated cardiomyopathy would be helpful to prevent disease. There is growing evidence that the genetic basis may be multigenic rather than monogenic in the majority of studied breeds...
April 17, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29565423/short-term-costs-of-integrating-whole-genome-sequencing-into-primary-care-and-cardiology-settings-a-pilot-randomized-trial
#2
Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29562793/wolff-parkinson-white-syndrome-and-noncompaction-in-leber-s-hereditary-optic-neuropathy-due-to-the-variant-m-3460g-a
#3
Josef Finsterer, Claudia Stollberger, Edmund Gatterer
This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29543226/effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#4
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29506731/common-presentation-of-rare-cardiac-diseases-arrhythmias
#5
Iacopo Olivotto, Gherardo Finocchiaro, Niccolò Maurizi, Lia Crotti
Ventricular or supraventricular ectopic beats or atrial fibrillation may be the first presentation of uncommon cardiac disease, both acquired and genetically determined. In some patients, these manifestations can be the first sign of the underlying cardiac disorder. In others, however, they are also important as prognostic indicators, reflecting electrical instability and risk. Most cardiology clinics are busy environments where the implementation of complex diagnostic algorithms is not feasible. However, it is equally impossible to reach a final diagnosis, among the thousands of rare diseases that involve the heart, moving from a first line clinical and instrumental examination...
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29486707/genomic-analysis-in-patients-with-myxomatous-mitral-valve-prolapse-current-state-of-knowledge
#6
S Gasser, H Reichenspurner, E Girdauskas
BACKGROUND: Myxomatous mitral valve prolapse is a common cardiac abnormality. Morbus Barlow is characterized by excess myxomatous leaflet tissue, bileaflet prolapse or billowing, chordae elongation and annular dilatation with or without calcification. Extensive myxoid degeneration with destruction of the normal three-layered leaflet tissue architecture is observed histologically in such patients. Autosomal dominant inheritance with an age and sex-dependent expression has long been recognised...
February 27, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29466211/-the-role-of-macrophages-in-repair-of-injured-myocardium-and-perspectives-of-metabolic-reprogramming-of-immune-cells-for-myocardial-post-infarction-recovery
#7
I S Stafeev, M Y Menshikov, V A Tkachuk, E V Parfenova
A new trend in modern experimental cardiology is the development of approaches to correction of reparation after myocardial infarction (MI) with the use of specific effects on immune cells. One of the main targets for such interventions is the process of macrophage's polarization in the infarction zone. Proinflammatory M1‑macrophages contribute to hampered myocardial repair, in contrast to M2‑macrophages that promote regeneration. Currently, there are two main ways of targeted delivery of agents necessary for macrophage reprogramming - inlipoid and inglycan-encapsulated particles...
December 2017: Kardiologiia
https://www.readbyqxmd.com/read/29456889/a-bibliometric-analysis-in-gene-research-of-myocardial-infarction-from-2001-to-2015
#8
Huaqiang Zhou, Wulin Tan, Zeting Qiu, Yiyan Song, Shaowei Gao
Objectives: We aimed to evaluate the global scientific output of gene research of myocardial infarction and explore their hotspots and frontiers from 2001 to 2015, using bibliometric methods. Methods: Articles about the gene research of myocardial infarction between 2001 and 2015 were retrieved from the Web of Science Core Collection (WoSCC). We used the bibliometric method and Citespace V to analyze publication years, journals, countries, institutions, research areas, authors, research hotspots, and trends...
2018: PeerJ
https://www.readbyqxmd.com/read/29454680/cardiomyopathy-in-the-pediatric-patients
#9
REVIEW
Shi-Min Yuan
Pediatric cardiomyopathies are a group of myocardial diseases with complex taxonomies. Cardiomyopathy can occur in children at any age, and it is a common cause of heart failure and heart transplantation in children. The incidence of pediatric cardiomyopathy is increasing with time. They may be associated with variable comorbidities, which are most often arrhythmia, heart failure, and sudden death. Medical imaging technologies, including echocardiography, cardiac magnetic resonance, and nuclear cardiology, are helpful in reaching a diagnosis of cardiomyopathy...
January 31, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29423274/a-diseasome-cluster-based-drug-repurposing-of-soluble-guanylate-cyclase-activators-from-smooth-muscle-relaxation-to-direct-neuroprotection
#10
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
#11
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
#12
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
#13
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
#14
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 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
#15
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
#16
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...
March 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
#17
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-severity-of-coronary-artery-disease-and-cardiovascular-risk-in-acute-coronary-syndrome-in-patients-with-metabolic-syndrome
#18
Katarzyna Widecka, Krzysztof Safranow, Maciej Lewandowski, Krzysztof Przybycień, Jarosław Gorący, Zdzisława Kornacewicz-Jach
BACKGROUND: The extent of angiographic lesions, size of infarct, and in-hospital and long-term prognosis in patients with metabolic syndrome (MS) have not been clearly determined. AIM: The aim of the study was to investigate the effect of MS on the severity of coronary artery disease (CAD) and cardio-vascular risk evaluated using the GRACE 2.0 risk score and left ventricular ejection fraction (LVEF) in patients with first acute coronary syndrome (ACS) treated with coronary angioplasty...
2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29295838/genetic-evidence-that-carbohydrate-stimulated-insulin-secretion-leads-to-obesity
#19
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
#20
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
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