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https://www.readbyqxmd.com/read/29341865/evidence-of-genetic-predisposition-for-metabolically-healthy-obesity-and-metabolically-obese-normal-weight
#1
Lam Opal Huang, Ruth Loos, Tuomas Oskari Kilpeläinen
Obesity has evolved into a global pandemic, which constitutes a major threat to public health. The majority of obesity-related health care costs are due to cardiometabolic complications, such as insulin resistance, dyslipidemia, and hypertension, which are risk factors for type 2 diabetes and cardiovascular disease. However, many obese individuals, often called metabolically healthy obese (MHO), seem to be protected from these cardiometabolic complications. Conversely, there is a group of individuals who suffer from cardiometabolic complications despite being of normal weight; a condition termed metabolically obese normal weight (MONW)...
December 20, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/29336212/simulated-microgravity-impairs-cardiac-autonomic-neurogenesis-from-neural-crest-cells
#2
Konstantinos E Hatzistergos, Zhijie Jiang, Krystalenia Valasaki, Lauro M Takeuchi, Wayne Balkan, Preethi Atluri, Dieter Saur, Barbara Seidler, Nicholas Tsinoremas, Darcy DiFede, Joshua M Hare
Microgravity-induced alterations in the autonomic nervous system (ANS) contribute to derangements in both the mechanical and electrophysiologic function of the cardiovascular system, leading to severe symptoms in humans following space travel. Because the ANS forms embryonically from neural crest progenitors (NCs), we hypothesized that microgravity can impair NC derived cardiac structures. Accordingly, we conducted in vitro simulated microgravity experiments employing NC genetic lineage-tracing in mice with cKitCreERT2/+, Isl1nLacZ and Wnt1-Cre reporter alleles...
January 16, 2018: Stem Cells and Development
https://www.readbyqxmd.com/read/29334954/association-between-non-cholesterol-sterol-concentrations-and-achilles-tendon-thickness-in-patients-with-genetic-familial-hypercholesterolemia
#3
Lucía Baila-Rueda, Itziar Lamiquiz-Moneo, Estíbaliz Jarauta, Rocío Mateo-Gallego, Sofía Perez-Calahorra, Victoria Marco-Benedí, Ana M Bea, Ana Cenarro, Fernando Civeira
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. If non-cholesterol sterols are involved in the development of TX in FH has not been analyzed. METHODS: Clinical and biochemical characteristics, non-cholesterol sterols concentrations and Aquilles tendon thickness were determined in subjects with genetic FH with (n = 63) and without (n = 40) TX...
January 15, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29334670/genetic-ablation-of-trpv1-exacerbates-pressure-overload-induced-cardiac-hypertrophy
#4
Beihua Zhong, Jack Rubinstein, Shuangtao Ma, Donna H Wang
Transient receptor potential vanilloid 1 (TRPV1) channels expressed in sensory nerves may regulate vascular tone and cardiovascular function via their anti-inflammatory effects by releasing neuropeptide calcitonin gene-related peptide (CGRP). Inflammation plays a role in the progression of cardiac hypertrophy and TRPV1 activation may be key to cardiac inflammatory processes. The aim of this study was to test the hypothesis that TRPV1 modulates inflammatory processes to protect the heart from pressure overload-induced hypertrophy and inflammatory responses...
January 12, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#5
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
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
#6
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/29332572/lipoprotein-associated-phospholipase-a2-and-coronary-heart-disease
#7
Areti Sofogianni, Stelina Alkagiet, Konstantinos Tziomalos
In the last decades, the role of inflammation in the pathogenesis of atherosclerosis has been the topic of intense research. Several markers of inflammation have shown predictive value for first and recurrent coronary events in patients without and with established coronary heart disease (CHD). Among these markers, lipoprotein-associated phospholipase A2 (Lp-PLA2) has recently received considerable attention. In the present review, the potential role of Lp-PLA2 as a marker of CHD risk and as a therapeutic target is discussed...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#8
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29331785/causal-nature-of-neighborhood-deprivation-on-individual-risk-of-coronary-heart-disease-or-ischemic-stroke-a-prospective-national-swedish-co-relative-control-study-in-men-and-women
#9
Per-Ola Forsberg, Henrik Ohlsson, Kristina Sundquist
We studied the association between neighborhood socioeconomic status (SES) and incidence of coronary heart disease (CHD) or ischemic stroke in the total population and in full- and half-siblings to determine whether these associations are causal or a result from familial confounding. Data were retrieved from nationwide Swedish registers containing individual clinical data linked to neighborhood of residence. After adjustment for individual SES, the association between neighborhood SES and CHD showed no decrease with increasing genetic resemblance, particularly in women...
January 10, 2018: Health & Place
https://www.readbyqxmd.com/read/29331057/manifestations-and-mechanisms-of-myocardial-lipotoxicity-in-obesity
#10
Arthur C Sletten, Linda R Peterson, Jean E Schaffer
Environmental and socioeconomic changes over the past thirty years have contributed to a dramatic rise in the worldwide prevalence of obesity. Heart disease is among the most serious health risks of obesity, with increases in both atherosclerotic coronary heart disease and heart failure among obese individuals. In this review, we focus on primary myocardial alterations in obesity that include hypertrophic remodeling and diastolic dysfunction. Obesity-associated perturbations in myocardial and systemic lipid metabolism are important contributors to cardiovascular complications of obesity...
January 13, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29329947/-pseudoexfoliation-syndrome-and-pseudoexfoliation-glaucoma
#11
REVIEW
C Schweitzer
Pseudoexfoliation syndrome is an age-related systemic disease that mainly affects the anterior structures of the eye. Despite a worldwide distribution, reported incidence and prevalence of this syndrome vary widely between ethnicities and geographical areas. The exfoliative material is composed mainly of abnormal cross-linked fibrils that accumulate progressively in some organs such as the heart, blood vessels, lungs or meninges, and particularly in the anterior structures of the eye. The exact pathophysiological process still remains unclear but the association of genetic and environmental factors are thought to play a role in the development and progressive extracellular accumulation of exfoliative material...
January 9, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29328364/genetically%C3%A2-modified-stem-cells-in-treatment-of-human-diseases-tissue-kallikrein-klk1-%C3%A2-based-targeted-therapy-review
#12
Marina Devetzi, Maria Goulielmaki, Nicolas Khoury, Demetrios A Spandidos, Georgia Sotiropoulou, Ioannis Christodoulou, Vassilis Zoumpourlis
The tissue kallikrein‑kinin system (KKS) is an endogenous multiprotein metabolic cascade which is implicated in the homeostasis of the cardiovascular, renal and central nervous system. Human tissue kallikrein (KLK1) is a serine protease, component of the KKS that has been demonstrated to exert pleiotropic beneficial effects in protection from tissue injury through its anti‑inflammatory, anti‑apoptotic, anti‑fibrotic and anti‑oxidative actions. Mesenchymal stem cells (MSCs) or endothelial progenitor cells (EPCs) constitute populations of well‑characterized, readily obtainable multipotent cells with special immunomodulatory, migratory and paracrine properties rendering them appealing potential therapeutics in experimental animal models of various diseases...
January 3, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#13
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29325795/insertional-mutagenesis-confounds-the-mechanism-of-the-morbid-phenotype-of-a-plnr9c-transgenic-mouse-line
#14
Alexander Kraev
BACKGROUND: A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLNR9C) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure and premature death. METHODS AND RESULTS: Determination of transgene chromosomal localization by conventional methods shows that in this line the transgenic array of 13 PLNR9C expression cassettes, arranged in a head-to-tail tandem orientation, has integrated into the bi-directional promoter of the αMHC (Myh6) gene and the gene for the regulatory non-coding RNA Myheart (Mhrt), both of which are known to be involved in cardiac development and pathology...
January 8, 2018: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/29325733/associations-of-gbp2-gene-copy-number-variations-with-growth-traits-and-transcriptional-expression-in-chinese-cattle
#15
REVIEW
Gui-Min Zhang, Li Zheng, Hua He, Cheng-Chuang Song, Zi-Jing Zhang, Xiu-Kai Cao, Chu-Zhao Lei, Xian-Yong Lan, Xing-Lei Qi, Hong Chen, Yong-Zhen Huang
Copy number variations (CNVs) recently have been recognized as another important genetic variability followed single nucleotide polymorphisms (SNPs). The guanylate binding protein 2 (GBP2) gene plays an important role in cell proliferation. This study was performed to determine the presence of GBP2 CNV (relative to Angus cattle) in 466 individuals representing six main cattle breeds from China, identify its relationship with growth, and explore the biological effects of gene expression. There were two CNV regions in the GBP2 gene, for three types, CNV1 loss type (relative to Angus cattle) was more frequent in XN than other breeds, and CNV2 loss type (relative to Angus cattle) was more frequent in XN and CDM than other breeds...
January 8, 2018: Gene
https://www.readbyqxmd.com/read/29325642/nhlbi-working-group-recommendations-to-reduce-lipoprotein-a-mediated-risk%C3%A2-of%C3%A2-cardiovascular-disease-and-aortic%C3%A2-stenosis
#16
REVIEW
Sotirios Tsimikas, Sergio Fazio, Keith C Ferdinand, Henry N Ginsberg, Marlys L Koschinsky, Santica M Marcovina, Patrick M Moriarty, Daniel J Rader, Alan T Remaley, Gissette Reyes-Soffer, Raul D Santos, George Thanassoulis, Joseph L Witztum, Simhan Danthi, Michelle Olive, Lijuan Liu
Pathophysiological, epidemiological, and genetic studies provide strong evidence that lipoprotein(a) [Lp(a)] is a causal mediator of cardiovascular disease (CVD) and calcific aortic valve disease (CAVD). Specific therapies to address Lp(a)-mediated CVD and CAVD are in clinical development. Due to knowledge gaps, the National Heart, Lung, and Blood Institute organized a working group that identified challenges in fully understanding the role of Lp(a) in CVD/CAVD. These included the lack of research funding, inadequate experimental models, lack of globally standardized Lp(a) assays, and inadequate understanding of the mechanisms underlying current drug therapies on Lp(a) levels...
January 16, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29324309/the-promising-future-of-ventricular-restraint-therapy-for-the-management-of-end-stage-heart-failure
#17
REVIEW
Muhammad Naveed, Imran Shair Mohammad, Li Xue, Sara Khan, Wang Gang, Yanfang Cao, Yijie Cheng, Xingxing Cui, Chen DingDing, Yu Feng, Wang Zhijie, Zhou Xiaohui
Complicated pathophysiological syndrome associated with irregular functioning of the heart leading to insufficient blood supply to the organs is linked to congestive heart failure (CHF) which is the leading cause of death in developed countries. Numerous factors can add to heart failure (HF) pathogenesis, including myocardial infarction (MI), genetic factors, coronary artery disease (CAD), ischemia or hypertension. Presently, most of the therapies against CHF cause modest symptom relief but incapable of giving significant recovery for long-term survival outcomes...
January 8, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29323716/oxidative-burden-in-familial-hypercholesterolemia
#18
REVIEW
Hamid Mollazadeh, Federico Carbone, Fabrizio Montecucco, Matteo Pirro, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein cholesterol (LDL-c). FH is characterized by accelerated development of atherosclerosis and represents the most frequent hereditary cause of premature coronary heart disease. Mutations of the LDL receptor gene are the genetic signature of FH, resulting in abnormal levels of circulating LDLs. Moreover, FH promotes the generation of reactive oxygen species (ROS) which is another key mechanism involved in atherosclerosis development and progression...
January 11, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29321517/genome-wide-association-study-of-homocysteine-in-african-americans-from-the-jackson-heart-study-the-multi-ethnic-study-of-atherosclerosis-and-the-coronary-artery-risk-in-young-adults-study
#19
Laura M Raffield, Jaclyn Ellis, Nels C Olson, Qing Duan, Jin Li, Peter Durda, Nathan Pankratz, Brendan J Keating, Christina L Wassel, Mary Cushman, James G Wilson, Myron D Gross, Russell P Tracy, Stephen S Rich, Alex P Reiner, Yun Li, Monte S Willis, Ethan M Lange, Leslie A Lange
Homocysteine (Hcy) is a heritable biomarker for CVD, peripheral artery disease, stroke, and dementia. Little is known about genetic associations with Hcy in individuals of African ancestry. We performed a genome-wide association study for Hcy in 4927 AAs from the Jackson Heart Study (JHS), the Multi-Ethnic Study of Atherosclerosis (MESA), and the Coronary Artery Risk in Young Adults (CARDIA) study. Analyses were stratified by sex and results were meta-analyzed within and across sex. In the sex-combined meta-analysis, we observed genome-wide significant evidence (p < 5...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29321364/illumina-based-de-novo-transcriptome-sequencing-and-analysis-of-chinese-forest-musk-deer
#20
Zhongxian Xu, Hang Jie, Binlong Chen, Uma Gaur, Nan Wu, Jian Gao, Pinming Li, Guijun Zhao, Dejun Zeng, Mingyao Yang, Diyan Li
The Chinese forest musk deer (Moschus berezovskii Flerov) is an endangered artiodactyl mammal. The musk secreted by sexually mature males is highly valued for alleged pharmaceutical properties and perfume manufacturing. However, the genomic and transcriptomic resources of musk deer remain deficiently represented and poorly understood. Next-generation sequencing technique is an efficient method for generating an enormous amount of sequence data that can represent a large number of genes and their expression levels...
December 2017: Journal of Genetics
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