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Cardiovascular genetics

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https://www.readbyqxmd.com/read/28526632/erythrocytosis-following-testosterone-therapy
#1
REVIEW
Samuel J Ohlander, Bibin Varghese, Alexander W Pastuszak
INTRODUCTION: A rapid increase in awareness of androgen deficiency has led to substantial increases in prescribing of testosterone therapy (TTh), with benefits of improvements in mood, libido, bone density, muscle mass, body composition, energy, and cognition. However, TTh can be limited by its side effects, particularly erythrocytosis. This review examines the literature on testosterone-induced erythrocytosis and polycythemia. AIM: To review the available literature on testosterone-induced erythrocytosis, discuss possible mechanisms for pathophysiology, determine the significance of formulation, and elucidate potential thromboembolic risk...
May 16, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28526149/pharmacogenomics-in-anesthesia
#2
REVIEW
Ramsey Saba, Alan D Kaye, Richard D Urman
A significant number of commonly administered medications in anesthesia show wide clinical interpatient variability. Some of these include neuromuscular blockers, opioids, local anesthetics, and inhalation anesthetics. Individual genetic makeup may account for and predict cardiovascular outcomes after cardiac surgery. These interactions can manifest at any point in the perioperative period and may also only affect a specific system. A better understanding of pharmacogenomics will allow for more individually tailored anesthetics and may ultimately lead to better outcomes, decreased hospital stays, and improved patient satisfaction...
June 2017: Anesthesiology Clinics
https://www.readbyqxmd.com/read/28525818/hypertension-update-jnc8-and-beyond
#3
REVIEW
Tara Shrout, David W Rudy, Michael T Piascik
Hypertension is the most preventable major risk factor for cardiovascular morbidity and mortality. The etiology of elevated blood pressure is a complex process involving the interaction of genetics, demographics, comorbid disorders, and environmental influences. Effective hypertensive therapy has been shown to reduce cardiovascular morbidity and mortality. JNC reports have served as a valuable source of guidelines, and JNC 8 is the most recently updated guideline for the prevention, diagnosis, and treatment of hypertension...
May 16, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28518114/preparation-and-in-vitro-characterization-of-magnetized-mir-modified-endothelial-cells
#4
Natalia Voronina, Heiko Lemcke, Frank Wiekhorst, Jens-Peter Kühn, Markus Frank, Gustav Steinhoff, Robert David
To date, the available surgical and pharmacological treatments for cardiovascular diseases (CVD) are limited and often palliative. At the same time, gene and cell therapies are highly promising alternative approaches for CVD treatment. However, the broad clinical application of gene therapy is greatly limited by the lack of suitable gene delivery systems. The development of appropriate gene delivery vectors can provide a solution to current challenges in cell therapy. In particular, existing drawbacks, such as limited efficiency and low cell retention in the injured organ, could be overcome by appropriate cell engineering (i...
May 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#5
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#6
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28513223/activation-of-thromboxane-a2-receptors-mediates-endothelial-dysfunction-in-diabetic-mice
#7
Xiaona Xie, Wanchun Sun, Jun Wang, Xiaoou Li, Xiaofeng Liu, Ning Liu
BACKGROUND: Diabetes is one of high-risk factors for cardiovascular disease. Improvement of endothelial dysfunction in diabetes reduces vascular complications. However, the underlying mechanism needs to be uncovered. This study was conducted to elucidate whether and how thromboxane A2 receptor (TPr) activation contributes to endothelial dysfunction in diabetes. METHODS AND RESULTS: Exposure of human umbilical vein endothelial cells (HUVECs) to either TPr agonists, two structurally related thromboxane A2 (TxA2) mimetics, significantly reduced phosphorylations of endothelial nitric oxide synthase (eNOS) at Ser(1177) and Akt at Ser(473)...
May 17, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28512139/a-genome-wide-association-meta-analysis-on-lipoprotein-a-concentrations-adjusted-for-apolipoprotein-a-isoforms
#8
Salome Mack, Stefan Coassin, Rico Rueedi, Noha A Yousri, Ilkka Seppälä, Christian Gieger, Sebastian Schönherr, Lukas Forer, Gertraud Erhart, Pedro Marques-Vidal, Janina Ried, Gerard Waeber, Sven Bergmann, Doreen Dähnhardt, Andrea Stöckl, Olli T Raitakari, Mika Kähönen, Annette Peters, Thomas Meitinger, Konstantin Strauch, Ludmilla Kedenko, Bernhard Paulweber, Terho Lehtimäki, Steven C Hunt, Peter Vollenweider, Claudia Lamina, Florian Kronenberg
High lipoprotein(a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes. Concentrations are strongly influenced by apo(a) KIV repeat isoforms. We aimed to identify genetic loci associated with Lp(a) concentrations using data from five genome-wide association studies (n=13,781). We identified 48 independent SNPs in the LPA and 1 SNP in the APOE gene region to be significantly associated with Lp(a) concentrations. We also adjusted for apo(a) isoforms to identify loci affecting Lp(a) levels independently from them, which resulted in 31 SNPs (30 in the LPA, 1 in the APOE gene region)...
May 16, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28507930/non-alcoholic-fatty-liver-disease-in-south-asians-a-review-of-the-literature
#9
REVIEW
Sital Singh, Gabriela N Kuftinec, Souvik Sarkar
Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are national and global epidemics. The disease is characterized by a spectrum of liver steatosis (fat deposition), inflammation (in NASH) and fibrosis. NAFLD and specifically NASH can lead to cirrhosis, which carry risks of progression to portal hypertension and hepatocellular carcinoma (HCC). NASH is also associated with higher mortality from cardiovascular causes. Most of the data for NAFLD has been obtained from the perspective of developed nations, although the disease is increasing and threatening to reach epidemic proportions across the world...
March 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28507169/human-neutrophil-elastase-induces-endothelial-cell-apoptosis-by-activating-the-perk-chop-branch-of-the-unfolded-protein-response
#10
Irina Grechowa, Sven Horke, Anja Wallrath, Christian-Friedrich Vahl, Bernhard Dorweiler
Human neutrophil elastase impacts on atherosclerotic plaque stability by inducing apoptosis in endothelial cells. Our aim was to investigate the proapoptotic mechanism of elastase on endothelial cells and to evaluate the presence of elastase in human plaque material. Human endothelial cells were treated with purified human neutrophil elastase. Apoptosis was assayed by capsase-3/7 activation, TUNEL, and sub-G1 assay. Activation of unfolded protein response (UPR) effector molecules binding Ig protein, soluble X-binding protein-1, protein kinase RNA-like ER kinase (PERK), and C/EBP-homologous protein (CHOP) was analyzed by RT-PCR, immunocytochemistry, and Western blot...
May 15, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28505046/south-asians-why-are-they-at-a-higher-risk-for-cardiovascular-disease
#11
Anjly Jain, Rajeev Puri, Devaki R Nair
PURPOSE OF REVIEW: We comment on the high prevalence of cardiovascular disease (CVD) in South Asians (SA). The effect of various risk factors, for example biochemical, genetic, lifestyle, socioeconomic factors and psychosocial stress on CVD risk is discussed. RECENT FINDINGS: 'Prediabetes' is common in SA, but its relationship with coronary artery disease (CAD) is not significant unlike for the white population. At the same time, 'prediabetes' in SA is associated with an increased risk for cerebrovascular disease (CeVD)...
May 12, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28503909/genetic-risk-score-and-cardiovascular-mortality-in-a-southern-european-population-with-coronary-artery-disease
#12
Andreia Pereira, Maria Isabel Mendonca, Ana Célia Sousa, Sofia Borges, Sónia Freitas, Eva Henriques, Mariana Rodrigues, Ana Isabel Freitas, Graça Guerra, Ilídio Ornelas, Décio Pereira, António Brehm, Roberto Palma Dos Reis
Several genetic risk scores (GRS) have been associated with cardiovascular disease; their role, however, in survival from proven coronary artery disease (CAD) have yielded conflicting results. OBJECTIVE: The objective of this study was to evaluate long-term cardiovascular mortality according to the genetic risk score in a Southern European population with CAD. METHODS: A cohort of 1464 CAD patients with angiographic proven CAD were followed up prospectively for up to 58...
May 15, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28502971/targeting-the-keap1-nrf2-system-to-prevent-kidney-disease-progression
#13
Masahiro Nezu, Norio Suzuki, Masayuki Yamamoto
BACKGROUND: Nuclear factor erythroid 2-related factor 2 (NRF2) is a critical transcription factor for the antioxidative stress response and it activates a variety of cytoprotective genes related to redox and detoxification. NRF2 activity is regulated by the oxidative-stress sensor molecule Kelch-like ECH-associated protein 1 (KEAP1) that induces proteasomal degradation of NRF2 through ubiquitinating NRF2 under unstressed conditions. Because oxidative stress is a major pathogenic and aggravating factor for kidney diseases, the KEAP1-NRF2 system has been proposed to be a therapeutic target for renal protection...
May 13, 2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28502819/functional-relevance-of-mirnas-in-premature-ageing
#14
REVIEW
Xurde M Caravia, David Roiz-Valle, Alba Morán-Álvarez, Carlos López-Otín
Ageing is a complex biological process characterized by the progressive loss of biological fitness due to the accumulation of macromolecular and cellular damage that affects most living organisms. Moreover, ageing is an important risk factor for many pathologies, including cardiovascular diseases, neurological disorders, and cancer. However, the ageing rate can be modulated by genetic, nutritional, and pharmacological factors, highlighting the concept of "ageing plasticity". Progeroid syndromes are a group of rare genetic diseases that resemble many characteristics of physiological ageing...
May 11, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28502510/preliminary-spectrum-of-genetic-variants-in-familial-hypercholesterolemia-in-argentina
#15
Virginia G Bañares, Pablo Corral, Ana Margarida Medeiros, María Beatriz Araujo, Alfredo Lozada, Juan Bustamante, Roxana Cerretini, Graciela López, Mafalda Bourbon, Laura E Schreier
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. As cardiovascular disease is a leading cause of mortality in Argentina, early identification of patients with FH is of great public health importance. OBJECTIVE: The aim of our study was to identify families with FH and to approximate to the characterization of the genetic spectrum mutations of FH in Argentina...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502497/the-9p21-3-locus-and-cardiovascular-risk-in-familial-hypercholesterolemia
#16
Martine Paquette, Michael Chong, Yascara Grisel Luna Saavedra, Guillaume Paré, Robert Dufour, Alexis Baass
BACKGROUND: Carrying a risk variant in the 9p21.3 locus represents one of the strongest genetic risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, the effect of these polymorphisms in patients with familial hypercholesterolemia (FH) has never been studied. OBJECTIVE: The objective of this study was to investigate the association between the sentinel 9p21.3 single nucleotide polymorphisms (SNP) rs1333047 and ASCVD susceptibility in FH subjects...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28501806/exercise-in-type-2-diabetes-genetic-metabolic-and-neuromuscular-adaptations-a-review-of-the-evidence
#17
REVIEW
Silvano Zanuso, Massimo Sacchetti, Carl Johan Sundberg, Giorgio Orlando, Paolo Benvenuti, Stefano Balducci
The biological responses to exercise training are complex, as almost all organs and systems are involved in interactions that result in a plethora of adaptations at the genetic, metabolic and neuromuscular levels.To provide the general practitioner and the sports medicine professionals with a basic understanding of the genetic, metabolic and neuromuscular adaptations at a cellular level that occur with aerobic and resistance exercise in subjects with type 2 diabetes.For each of the three domains (genetic, metabolic and neuromuscular), the results of the major systematic reviews and original research published in relevant journals, indexed in PubMed, were selected...
May 13, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28501414/editorial-commentary-genetic-contributions-to-cardiovascular-disease-the-blurred-lines-between-monogenic-and-polygenic-traits
#18
EDITORIAL
Jodie Ingles, J Martijn Bos
No abstract text is available yet for this article.
April 11, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28500604/a-primer-to-angiotensin-peptide-isolation-stability-and-analysis-by-nano-liquid-chromatography-with-mass-detection
#19
Mariola Olkowicz, Stefan Chlopicki, Ryszard T Smolenski
The renin-angiotensin system (RAS) is an important element of cardiovascular and renal physiology and targeting the RAS by renin inhibitors, angiotensin (Ang) converting enzyme (ACE) inhibitors and Ang II type 1 receptor antagonists is effective in the treatment of hypertension, heart failure, and atherosclerosis. Quantification of Ang peptides is critical to establish the status of the RAS, but it is challenging due to low Ang peptides concentrations (fmol/mL or fmol/g), abundance of interfering substances, post sampling conversions, and difficulties with the specificity of the assay...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28500476/update-on-apoa5-genetics-toward-a-better-understanding-of-its-physiological-impact
#20
REVIEW
Montse Guardiola, Josep Ribalta
PURPOSE OF REVIEW: This review is intended to summarize the genetic studies published during the last 3 years that help us understand the physiology of apoAV and its clinical implications. RECENT FINDINGS: APOA5 is probably the gene with the strongest effect on triglyceride (TG) metabolism. APOA5 is almost exclusively expressed in the liver, and its product apoAV has a very low circulating concentration. New physiological roles of apoAV have been recently elucidated, such as control of chylomicron production in the intestine and TG accumulation in adipose tissue...
July 2017: Current Atherosclerosis Reports
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