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Cardiovascular genetics

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https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#1
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784125/catheter-directed-thrombolysis-for-pulmonary-embolism-the-state-of-practice
#2
Xi Xue, Akhilesh K Sista
Acute pulmonary embolism (PE) is a major public health problem. It is the third most common cause of death in hospitalized patients. In the United States, there are up to 600,000 cases diagnosed per year with 100,000-180,000 acute PE-related deaths. Common risk factors include underlying genetic conditions, acquired conditions, and acquired hypercoagulable states. Acute PE increases the pulmonary vascular resistance and the load on the right ventricle (RV). Increased RV loading causes compensatory RV dilation, impaired contractility, tachycardia, and sympathetic activation...
June 2018: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/29783161/candidate-gene-analysis-in-the-s%C3%A3-o-paulo-epidemiologic-sleep-study-episono-shows-an-association-of-variant-in-pde4d-and-sleepiness
#3
Victoria M Pak, Diego R Mazzotti, Brendan T Keenan, Camila Hirotsu, Philip Gehrman, Lia Bittencourt, Allan I Pack, Sergio Tufik
INTRODUCTION: Sleepiness and cardiovascular disease share common molecular pathways; thus, genetic risk factors for sleepiness may also predict cardiovascular disease risk. This study explored the associations between subjective sleepiness and single-nucleotide polymorphisms (SNPs) in candidate genes within oxidative stress, inflammatory, and neuronal pathways, which may contribute to sleepiness and downstream cardiovascular disease risk: Cytochrome B-245, Alpha Polypeptide (CYBA), Cytochrome B-245, Beta Polypeptide (CYBB), Neutrophil Cytosolic Factor (NCF2), Tumor Necrosis Factor-Alpha (TNFA), and Phosphodiesterase 4D (PDE4D)...
January 12, 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29782204/paraoxonase-1-q192r-genotype-and-activity-affect-homocysteine-thiolactone-levels-in-humans
#4
Joanna Perła-Kaján, Kamila Borowczyk, Rafał Głowacki, Ottar Nygård, Hieronim Jakubowski
Genetic or nutritional deficiencies in 1 carbon and homocysteine (Hcy) metabolism elevate Hcy-thiolactone levels and are associated with cardiovascular and neurologic diseases. Hcy-thiolactone causes protein damage, cellular toxicity, and proatherogenic changes in gene expression in human cells and tissues. A polymorphic cardio-protective enzyme, paraoxonase 1 (PON1), hydrolyzes Hcy-thiolactone in vitro. However, whether Hcy-thiolactone hydrolysis is a physiologic function of the PON1 protein and whether polymorphisms in the PON1 gene affect Hcy-thiolactone levels in humans was unknown...
May 21, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#5
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29777975/geriatric-analysis-from-prodige-20-randomized-phase-ii-trial-evaluating-bevacizumab-chemotherapy-versus-chemotherapy-alone-in-older-patients-with-untreated-metastatic-colorectal-cancer
#6
T Aparicio, O Bouché, E Francois, F Retornaz, E Barbier, J Taieb, S Kirscher, P-L Etienne, R Faroux, F Khemissa Akouz, F El Hajbi, C Locher, Y Rinaldi, T Lecomte, S Lavau-Denes, M Baconnier, A Oden-Gangloff, D Genet, L Bedenne, E Paillaud
BACKGROUND: Older patients have frailty characteristics that impair the transposition of treatment results found in younger patients. Predictive factors are needed to help with treatment choices for older patients. The PRODIGE 20 study is a randomized phase II study that evaluated chemotherapy associated with bevacizumab (BEV) or not (CT) in patients aged 75 years or older. PATIENTS AND METHODS: Patients underwent a geriatric assessment at randomization and at each evaluation...
May 16, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29775496/young-adult-s-knowledge-and-attitudes-towards-cardiovascular-disease-a-systematic-review-and-meta-analysis
#7
REVIEW
Ronald Trejo, Wendy Cross, John Stephenson, Karen-Leigh Edward
AIMS AND OBJECTIVES: To explore young adult's knowledge and attitudes of cardiovascular disease and its risk factors. BACKGROUND: Cardiovascular disease morbidity is rising and mortality is declining among young adults. However, the knowledge of cardiovascular disease by young adults is not well known. DESIGN: A systematic review with meta-analysis was used. METHODS: The databases of CINHAL, Medline Complete, PsychINFO and Psycharticles were searched for all studies published before June 2016...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29775405/the-mouse-heart-attack-research-tool-mhart-1-0-database
#8
Kristine Y DeLeon-Pennell, Rugmani Padmanabhan Iyer, Yonggang Ma, Andriy Yabluchanskiy, Rogelio Zamilpa, Ying Ann Chiao, Presley Cannon, Courtney Cates, Elizabeth R Flynn, Ganesh V Halade, Lisandra E de Castro Bras, Merry L Lindsey
The generation of Big Data has enabled systems-level dissections into the mechanisms of cardiovascular pathology. Integration of genetic, proteomic, and pathophysiological variables across platforms and laboratories fosters discoveries through multidisciplinary investigations and minimizes unnecessary redundancy in research efforts. The Mouse Heart Attack Research Tool (mHART) consolidates a large dataset of over 10 years of experiments from a single laboratory for cardiovascular investigators to generate novel hypotheses and identify new predictive markers of progressive left ventricular remodeling following myocardial infarction (MI) in mice...
May 18, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#9
Vasiliki Karava, Cherine Benzouid, Julien Hogan, Claire Dossier, André Pierre Denjean, Georges Deschênes
BACKGROUND: This study aims to describe the cardiovascular manifestations in children with autosomal dominant polycystic kidney disease (ADPKD) and detect their relation with kidney disease and type of gene mutation. METHODS: Twenty-one patients (7 to 19 years old) were included. Cardiovascular evaluation involved blood pressure (BP), indexed left ventricular mass (LVMI), pulse wave velocity (PWV), and carotid intima media thickness (cIMT) measurement. Patients were classified according to percentile reference values of these parameters in healthy children...
May 17, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#10
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29773828/single-nucleotide-polymorphisms-in-the-g-protein-coupled-receptor-kinase-5-grk5-gene-are-associated-with-plasma-ldl-cholesterol-levels-in-humans
#11
Stefan Z Lutz, Mathias Falcenberg, Fausto Machicao, Andreas Peter, Martin Kächele, Elko Randrianarisoa, Angela Lehn-Stefan, Robert Wagner, Jürgen Machann, Fritz Schick, Martin Heni, Axel Ullrich, Andreas Fritsche, Norbert Stefan, Hans-Ulrich Häring, Harald Staiger, Konstantinos Kantartzis
Genetically modified mice models suggest an important role for G-protein-coupled receptor kinase 5 (GRK5) in the pathophysiology of obesity and related disorders. We investigated whether single nucleotide polymorphisms (SNPs) in the gene encoding GRK5 affect cardiometabolic traits in humans. We genotyped 3 common SNPs in intron 1 (rs1980030, rs10466210, rs9325562) and one SNP in intron 3 (rs10886471) of GRK5 in 2332 subjects at risk for type 2 diabetes. Total- and visceral fat mass were measured by magnetic resonance (MR) tomography and liver fat content by 1 H-MR spectroscopy...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29773810/cardiovascular-disease-risk-varies-by-birth-month-in-canines
#12
Mary Regina Boland, Marc S Kraus, Eddie Dziuk, Anna R Gelzer
The canine heart is a robust physiological model for the human heart. Recently, birth month associations have been reported and replicated in humans using clinical health records. While animals respond readily to their environment in the wild, a systematic investigation of birth season dependencies among pets and specifically canines remains lacking. We obtained data from the Orthopedic Foundation of Animals on 129,778 canines representing 253 distinct breeds. Among canines that were not predisposed to cardiovascular disease, a clear birth season relationship is observed with peak risk occurring in June-August...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29773150/anxiety-depression-and-health-related-quality-of-life-in-heterozygous-familial-hypercholesterolemia-a-systematic-review-and-meta-analysis
#13
Leo E Akioyamen, Jacques Genest, Shubham D Shan, Happy Inibhunu, Anna Chu, Jack V Tu
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. OBJECTIVES: We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). METHODS: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018...
June 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#14
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29771456/serum-serotonin-levels-in-patients-with-epileptic-seizures
#15
Arun Murugesan, M R Sandhya Rani, Johnson Hampson, Bilal Zonjy, Nuria Lacuey, Carl L Faingold, Daniel Friedman, Orrin Devinsky, Rup K Sainju, Stephan Schuele, Beate Diehl, Maromi Nei, Ronald M Harper, Lisa M Bateman, George Richerson, Samden D Lhatoo
Profound cardiovascular and/or respiratory dysfunction is part of the terminal cascade in sudden unexpected death in epilepsy (SUDEP). Central control of ventilation is mediated by brainstem rhythm generators, which are influenced by a variety of inputs, many of which use the modulatory neurotransmitter serotonin to mediate important inputs for breathing. The aim of this study was to investigate epileptic seizure-induced changes in serum serotonin levels and whether there are potential implications for SUDEP...
May 17, 2018: Epilepsia
https://www.readbyqxmd.com/read/29769521/thirty-loci-identified-for-heart-rate-response-to-exercise-and-recovery-implicate-autonomic-nervous-system
#16
Julia Ramírez, Stefan van Duijvenboden, Ioanna Ntalla, Borbala Mifsud, Helen R Warren, Evan Tzanis, Michele Orini, Andrew Tinker, Pier D Lambiase, Patricia B Munroe
Impaired capacity to increase heart rate (HR) during exercise (ΔHRex ), and a reduced rate of recovery post-exercise (ΔHRrec ) are associated with higher cardiovascular mortality rates. Currently, the genetic basis of both phenotypes remains to be elucidated. We conduct genome-wide association studies (GWASs) for ΔHRex and ΔHRrec in ~40,000 individuals, followed by replication in ~27,000 independent samples, all from UK Biobank. Six and seven single-nucleotide polymorphisms for ΔHRex and ΔHRrec , respectively, formally replicate...
May 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29769417/lactate-in-cardiogenic-shock-current-understanding-and-clinical-implications
#17
G M Kubiak, A R Tomasik, K Bartus, R Olszanecki, P Ceranowicz
Adenosine triphosphate (ATP) is an essential substrate metabolite in human beings. Mitochondrial oxidative phosphorylation provides > 95% of ATP with the remainder derived from glycolysis or tricarboxylic acid cycle (TCA). In normal hearts, acetyl-CoA is synthesized from the β-oxidation of free fatty acids (FFA) and the oxidation of pyruvate. Pyruvate is synthesized from glycolysis and can be submitted either for decarboxylation to acetyl-CoA or for dehydrogenation to lactate. Moreover, pyruvate, as well as lactate, plays a key role in aerobic glucose metabolism which is highly dependent on ubiquitous regulatory mechanisms...
February 2018: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/29769239/hypertriglyceridemia-and-cardiovascular-risk-a-cautionary-note-about-metabolic-confounding
#18
Allan D Sniderman, Patrick Couture, Seth B Martin, Jacqueline DeGraaf, Patrick R Lawler, William C Cromwell, John T Wilkins, George Thanassoulis
Triglycerides are the conventional tool to measure very low-density lipoproteins (VLDL) whereas low-density lipoprotein cholesterol (LDL-C) is the conventional tool to measure low-density lipoproteins (LDL). Multiple epidemiological studies, including a series of genetically based analyses, have demonstrated cardiovascular risk is related to triglycerides independently of LDL-C and this has led to a series of new therapeutic agents designed specifically to reduce plasma triglycerides. The triglyceride hypothesis posits that increased levels of triglycerides increase cardiovascular risk and decreasing plasma triglycerides decreases cardiovascular risk...
May 16, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29769070/serum-magnesium-levels-and-risk-of-coronary-artery-disease-mendelian-randomisation-study
#19
Susanna C Larsson, Stephen Burgess, Karl Michaëlsson
BACKGROUND: Observational studies have shown that serum magnesium levels are inversely associated with risk of cardiovascular disease, but whether this association is causal is unknown. We conducted a Mendelian randomisation study to investigate whether serum magnesium levels may be causally associated with coronary artery disease (CAD). METHODS: This Mendelian randomisation analysis is based on summary-level data from the CARDIoGRAMplusC4D consortium's 1000 Genomes-based genome-wide association meta-analysis of 48 studies with a total of 60,801 CAD cases and 123,504 non-cases...
May 17, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29768630/what-determines-mortality-in-malignant-pheochromocytoma-report-of-a-case-with-eighteen-year-survival-and-review-of-the-literature
#20
Matheus de Oliveira Andrade, Vinícius Santos da Cunha, Dayana Carla de Oliveira, Olívia Laquis de Moraes, Adriana Lofrano-Porto
Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term survival in malignant pheochromocytoma. The patient, a 45-year-old man, reported sustained arterial hypertension with paroxysmal episodes of tachycardia, associated with head and neck burning sensation, and hand and foot tremors...
March 2018: Archives of Endocrinology and Metabolism
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