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https://www.readbyqxmd.com/read/28230815/conceptual-foundations-of-systems-biology-explaining-complex-cardiac-diseases
#1
REVIEW
George E Louridas, Katerina G Lourida
Systems biology is an important concept that connects molecular biology and genomics with computing science, mathematics and engineering. An endeavor is made in this paper to associate basic conceptual ideas of systems biology with clinical medicine. Complex cardiac diseases are clinical phenotypes generated by integration of genetic, molecular and environmental factors. Basic concepts of systems biology like network construction, modular thinking, biological constraints (downward biological direction) and emergence (upward biological direction) could be applied to clinical medicine...
February 21, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#2
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28228767/identification-of-zoupi-orthologs-in-soybean-potentially-involved-in-endosperm-breakdown-and-embryogenic-development
#3
Yaohua Zhang, Xin Li, Suxin Yang, Xianzhong Feng
Soybean (Glycine max Merr.) is the world's most widely grown legume and provides an important source of protein and oil. Improvement of seed quality requires deep insights into the genetic regulation of seed development. The endosperm serves as a temporary source of nutrients that are transported from maternal to filial tissues, and it also generates signals for proper embryo formation. Endosperm cell death is associated with the processes of nutrient transfer and embryo expansion. The bHLH domain transcription factor AtZHOUPI (AtZOU) plays a key role in both the lysis of the transient endosperm and the formation of embryo cuticle in Arabidopsis thaliana...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28228157/genetics-and-genomics-of-dilated-cardiomyopathy-and-systolic-heart-failure
#4
REVIEW
Upasana Tayal, Sanjay Prasad, Stuart A Cook
Heart failure is a major health burden, affecting 40 million people globally. One of the main causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global indication for heart transplantation. Our understanding of the genetic basis of both DCM and systolic heart failure has improved in recent years with the application of next-generation sequencing and genome-wide association studies (GWAS). This has enabled rapid sequencing at scale, leading to the discovery of many novel rare variants in DCM and of common variants in both systolic heart failure and DCM...
February 22, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#5
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28227426/characterization-of-patient-specific-biventricular-mechanics-in-heart-failure-with-preserved-ejection-fraction-hyperelastic-warping
#6
Hua Zou, Xiaodan Zhao, Xi Ce, Lik Chuan Lee, Martin Genet, Yi Su, Rusan Tan, Liang Zhong, Hua Zou, Xiaodan Zhao, Xi Ce, Lik Chuan Lee, Martin Genet, Yi Su, Rusan Tan, Liang Zhong, Rusan Tan, Martin Genet, Hua Zou, Lik Chuan Lee, Yi Su, Liang Zhong, Xiaodan Zhao, Xi Ce
Heart failure with preserved ejection fraction (HFPEF) is considered as a major public health problem. Traditionally, HFPEF is diagnosed based on a "normal" EF, but the studies have explored the potential role of left ventricular mechanics. Furthermore, right ventricular mechanics and bi-ventricular interaction in HFPEF is currently not well understood. In this study, we aim to develop a framework using a hyperelastic warping approach to quantify bi-ventricular and septum strains from cardiac magnetic resonance (CMR) images...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226599/identifying-glaucoma-patients-by-applying-multivariate-analyses-of-cardiovascular-signals
#7
Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Claudia Fischer, Kathleen Kunert, Niklas Plange, Cristina Gonzalez Martinez, Eva Koch, Andreas Voss
Glaucoma is a disease that damages the eye's optic nerve. However, the exact cause of this optic nerve damage is not yet fully understood. Besides the factors of age, genetics and others, such as obesity, medication and migraines, a vascular dysfunction is believed to be a significant factor leading to glaucoma. This study's objective was to investigate whether these vascular dysfunctions could be recognized by analyzing cardiovascular regulation in glaucoma patients. Linear and nonlinear methods were applied to the extracted heart rate (HR), and systolic/ diastolic blood pressure (DBP) time series to discriminate between 35 healthy controls and 20 glaucoma patients...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225781/chronic-pain-depression-and-cardiovascular-disease-linked-through-a-shared-genetic-predisposition-analysis-of-a-family-based-cohort-and-twin-study
#8
Oliver van Hecke, Lynne J Hocking, Nicola Torrance, Archie Campbell, Sandosh Padmanabhan, David J Porteous, Andrew M McIntosh, Andrea V Burri, Haruka Tanaka, Frances M K Williams, Blair H Smith
BACKGROUND: Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors...
2017: PloS One
https://www.readbyqxmd.com/read/28225290/screenpro-fh-screening-project-for-familial-hypercholesterolemia-in-central-southern-and-eastern-europe-rationale-and-design
#9
Richard Češka, György Paragh, Željko Reiner, Maciej Banach, Lale Tokgözoğlu, Andrey V Susekov, Katarína Rašlová, Tomáš Freiberger, Branislav Vohnout, Andrzej Rynkiewicz, Assen Goudev, Gheorghe-Andrei Dan, Dan Gaiţă, Belma Pojskić, Ivan Pećin, Meral Kayıkçıoğlu, Olena Mitchenko, Marat V Ezhov, Gustavs Latkovskis, Žaneta Petrulionienė, Zlatko Fras, Nebojsa Tasić, Erkin M Mirrakhimov, Tolkun Murataliev, Alexander B Shek, Vladimír Tuka, Alexandros D Tselepis, Elie M Moubarak, Khalid Al Rasadi
Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. The ScreenPro FH Project is an international network project aiming at improving complex care - from timely screening, through diagnosis to up-to-date treatment of familial hypercholesterolemia in Central, Eastern and Southern Europe...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28225053/genetically-predicted-milk-consumption-and-bone-health-ischemic-heart-disease-and-type-2-diabetes-a-mendelian-randomization-study
#10
Q Yang, S L Lin, S L Au Yeung, M K Kwok, L Xu, G M Leung, C M Schooling
BACKGROUND/OBJECTIVES: Milk provides protein and micronutrients, and is recommended by some dietary guidelines, particularly for bone health. Meta-analysis of small randomized controlled trials suggests that milk may increase bone mineral density, but they are very heterogeneous. No randomized controlled trial has assessed the effects of milk on major chronic diseases. Previous Mendelian randomization studies of milk did not consider bone health, found no effects on ischemic heart disease (IHD) or type 2 diabetes (T2D) but higher body mass index...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28224759/genomic-variants-at-20p11-associated-with-body-fat-mass-in-the-european-population
#11
Yu-Fang Pei, Hai-Gang Ren, Lu Liu, Xiao Li, Chen Fang, Yun Huang, Wen-Zhu Hu, Wei-Wen Kong, An-Ping Feng, Xin-Yi You, Wen Zhao, Hui Shen, Qing Tian, Yong-Hong Zhang, Hong-Wen Deng, Lei Zhang
OBJECTIVE: Body fat mass (BFM) is more homogeneous and accurate than body total mass in measuring obesity but has rarely been studied. Aiming to uncover the genetic basis of fat-induced obesity, a genome-wide association meta-analysis of BFM, after adjustment by body lean mass, was performed in the European population. METHODS: Three samples of European ancestry were included in the meta-analysis: the Framingham Heart Study (N = 6,004), the Kansas City osteoporosis study (N = 2,207), and the Omaha osteoporosis study (N = 968)...
February 22, 2017: Obesity
https://www.readbyqxmd.com/read/28224467/appropriate-use-of-genetic-testing-in-congenital-heart-disease-patients
#12
REVIEW
Seiji Ito, Kimberly A Chapman, Monisha Kisling, Anitha S John
PURPOSE OF REVIEW: Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD. RECENT FINDINGS: Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28223407/polygenic-risk-score-identifies-subgroup-with-higher-burden-of-atherosclerosis-and-greater-relative-benefit-from-statin-therapy-in-the-primary-prevention-setting
#13
Pradeep Natarajan, Robin Young, Nathan O Stitziel, Sandosh Padmanabhan, Usman Baber, Roxana Mehran, Samantha Sartori, Valentin Fuster, Dermot F Reilly, Adam S Butterworth, Daniel J Rader, Ian Ford, Naveed Sattar, Sekar Kathiresan
Background -Relative risk reduction with statin therapy has been consistent across nearly all subgroups studied to date. However, in analyses of two randomized controlled primary prevention trials (ASCOT and JUPITER), statin therapy led to a greater relative risk reduction among a subgroup at high genetic risk. Here, we sought to confirm this observation in a third primary prevention randomized controlled trial. Additionally, we assessed if those at high genetic risk had a greater burden of subclinical coronary atherosclerosis...
February 21, 2017: Circulation
https://www.readbyqxmd.com/read/28223051/functional-status-and-quality-of-life-in-survivors-of-extracorporeal-membrane-oxygenation-after-the-norwood-operation
#14
Joshua M Friedland-Little, Karen Uzark, Sunkyung Yu, Ray Lowery, Ranjit Aiyagari, Jennifer C Hirsch-Romano
BACKGROUND: Infants who require extracorporeal membrane oxygenation (ECMO) support after a Norwood operation are at increased risk for early and late death compared with patients who do not require ECMO post-Norwood. Little is known about the effect that ECMO post-Norwood has on functional status and quality of life among long-term survivors. METHODS: We prospectively evaluated functional status and health-related quality of life in 12 surviving patients (cases) and 19 corresponding patients (controls) from a previous retrospective case-control assessment of long-term survival in patients requiring ECMO post-Norwood...
February 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28222501/a-molecular-case-control-study-of-association-of-hnf1a-gene-polymorphisms-rs2259816-and-rs7310409-with-risk-of-coronary-artery-disease-in-iranian-patients
#15
Samaneh Adami Barzi, Sayyed Mohammad Hossein Ghaderian, Zahra Noormohammadi
BACKGROUND: Coronary artery disease (CAD) is the one of the most common heart diseases, being the main factor of mortality and morbidity worldwide. CAD has been known as a multifactorial disease and its progression depends on genetic and environmental factors. Numerous studies have shown evidence for association between 12q24.3 locus and CAD. OBJECTIVES: In the present study, the association of two HNF1A polymorphisms, rs2259816 and rs7310409, located on 12q24.3 locus with CAD was investigated in Iranian patients...
January 24, 2017: Human Antibodies
https://www.readbyqxmd.com/read/28219980/activation-of-neuronal-endothelin-b-receptors-mediates-pressor-response-through-alpha-1-adrenergic-receptors
#16
Bryan K Becker, Joshua S Speed, Mackenzie Powell, David M Pollock
Abnormalities in activity of the endothelin (ET) system have been widely reported in a number of cardiovascular disease states such as hypertension and heart failure. Although the vascular responses to ET are well established, the interaction between ET and other important modulators of blood pressure, such as the sympathetic nervous system, are less understood. Previous reports implicate ET signaling through ET type B (ETB) receptors in increasing neuronal activity. Therefore, we hypothesized that activation of ETB receptors on sympathetic nerves would increase blood pressure through an adrenergic-mediated mechanism...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28217939/pitx2-dependent-gene-regulation-in-atrial-fibrillation-and-rhythm-control
#17
Fahima Syeda, Paulus Kirchhof, Larissa Fabritz
Atrial fibrillation (AF) is a common arrhythmia. Better prevention and treatment of AF are needed to reduce AF-associated morbidity and mortality. There are several major mechanisms that cause AF in patients, including a genetic predisposition to develop AF. Genome-wide association studies (GWAS) have identified genetic variants associated with AF populations, with the strongest hits clustering on chromosome 4q25, close to the gene for the homeobox transcription factor PITX2. The effect of these common gene variants on cardiac PITX2 mRNA is currently under study...
February 19, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28213480/a-common-genetic-variant-risk-score-is-associated-with-drug-induced-qt-prolongation-and-torsade-de-pointes-risk-a-pilot-study
#18
David G Strauss, Jose Vicente, Lars Johannesen, Ksenia Blinova, Jay W Mason, Peter Weeke, Elijah R Behr, Dan M Roden, Raymond Woosley, Gulum Kosova, Michael A Rosenberg, Christopher Newton-Cheh
Background -Drug-induced QT interval prolongation, a risk factor for life-threatening ventricular arrhythmias, is a potential side effect of many marketed and withdrawn medications. The contribution of common genetic variants previously associated with baseline QT interval to drug-induced QT prolongation and arrhythmias is not known. Methods -We tested the hypothesis that a weighted combination of common genetic variants contributing to QT interval at baseline, identified through genome-wide association studies, can predict individual response to multiple QT-prolonging drugs...
February 17, 2017: Circulation
https://www.readbyqxmd.com/read/28212922/organ-specific-biomarkers-in-lupus
#19
REVIEW
Haijing Wu, Jinrong Zeng, Ming Zhao, Qianjin Lu
Systemic lupus erythematosus (SLE) is a complex and highly heterogeneous disease, which affects multiple organs, including joints, skin, kidneys, heart, hematopoietic system, and nerve system. While the etiopathogenesis of SLE still remains unclear, genetic susceptibilities and aberrant epigenetic modifications are believed to be involved. For precision therapy, it is necessary to assess accurately and objectively organ involvements and disease activity, which is difficult by current clinical laboratory tests...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28212842/pathophysiological-consequences-of-receptor-mistraffic-tales-from-the-platelet-p2y12-receptor
#20
Margaret R Cunningham, Riyaad Aungraheeta, Stuart J Mundell
Genetic variations in G protein-coupled receptor (GPCR) genes can disrupt receptor function in a wide variety of human genetic diseases, including platelet bleeding disorders. Platelets are critical for haemostasis with inappropriate platelet activation leading to the development of arterial thrombosis, which can result in heart attack and stroke whilst decreased platelet activity is associated with an increased risk of bleeding. GPCRs expressed on the surface of platelets play key roles in regulating platelet activity and therefore function...
February 14, 2017: Molecular and Cellular Endocrinology
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