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https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#1
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/29777510/clopidogrel-pharmacogenetics-in-iranian-patients-undergoing-percutaneous-coronary-intervention
#2
Nejat Mahdieh, Ahmad Rabbani, Ata Firouzi, Ali Zahedmehr, Maryam Hoseinimoghaddam, Sedigheh Saeidi, Hamidreza Sanati, Hosseinali Basiri, Feridoun Noohi, Bahareh Rabbani, Majid Maleki
Clopidogrel is used in patients with coronary syndromes and at risk of thrombotic events or receiving percutaneous coronary intervention (PCI) for reducing heart attack and stroke. Here we present genotype and phenotype study of Iranian patients undergoing PCI treated with clopidogrel during a 6-month period of follow-up; common variants of CYP2C19, CYP3A5, CYP3A4, and ABCB1 genes were determined as well as the patients' cardiovascular outcomes to find out the effect of these variants individually and in combination...
May 18, 2018: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/29777114/microrna-expression-profile-of-human-advanced-coronary-atherosclerotic-plaques
#3
Mariana S Parahuleva, Christoph Lipps, Behnoush Parviz, Hans Hölschermann, Bernhard Schieffer, Rainer Schulz, Gerhild Euler
MicroRNA (miR) is reported to be involved in vascular inflammation and may represent a novel class of diagnostic biomarkers in cardiovascular disease. We aimed to identify the miR expression profile in human advanced coronary atherosclerotic plaques (CAP) and to connect this expression to the processes in atherosclerosis. Microarray techniques and TaqMan polymerase chain reaction were used to analyse the global expression of 352 miRs in CAP obtained during ACS MULTI-LINK study. 11 miRs were selected on the basis of their implication in atherosclerosis, endothelial activation, and inflammation...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29775961/antioxidant-response-elements-discovery-classes-regulation-and-potential-applications
#4
REVIEW
Azhwar Raghunath, Kiruthika Sundarraj, Raju Nagarajan, Frank Arfuso, Jinsong Bian, Alan P Kumar, Gautam Sethi, Ekambaram Perumal
Exposure to antioxidants and xenobiotics triggers the expression of a myriad of genes encoding antioxidant proteins, detoxifying enzymes, and xenobiotic transporters to offer protection against oxidative stress. This articulated universal mechanism is regulated through the cis-acting elements in an array of Nrf2 target genes called antioxidant response elements (AREs), which play a critical role in redox homeostasis. Though the Keap1/Nrf2/ARE system involves many players, AREs hold the key in transcriptional regulation of cytoprotective genes...
May 7, 2018: Redox Biology
https://www.readbyqxmd.com/read/29775897/the-gastric-mucosal-protective-effects-of-astragaloside-iv-in-mnng-induced-gpl-rats
#5
Tiantian Cai, Chengzhe Zhang, Ziming Zhao, Siyi Li, Haobin Cai, Xiaodong Chen, Dake Cai, Wei Liu, Yan Yan, Kaifeng Xie, Huafeng Pan, Xiaohui Zeng
Gastric Cancer is one of the most common types of cancer. And the occurrence of gastric carcinoma is an evolutionary histopathological stage. As a result, further research of GPL, which is a borderline of gastric cancer, is indispensable for preventing the formation and development of gastric carcinoma. Several studies have demonstrated a correlation between the expression of autophagy, apoptosis and Gastric cancer (GC). However, the effects of autophagy and apoptosis on human gastric cancer progression, particularly on gastric precancerous lesions (GPL), have not totally been investigated...
May 15, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29775643/myocardial-infarction-induced-hippocampal-microtubule-damage-by-cardiac-originating-microrna-1-in-mice
#6
Lin-Lin Sun, Ming-Jing Duan, Ji-Chao Ma, Ling Xu, Meng Mao, Das Biddyut, Qin Wang, Chao Yang, Shuai Zhang, Yi Xu, Lin Yang, You Tian, Ying Liu, Sheng-Nan Xia, Ke-Xin Li, Zhuo Jin, Qiaojie Xiong, Jing Ai
Cardiovascular diseases are risk factors for dementia, but the mechanisms remain elusive. Here, we report that myocardial infarction (MI) generated by the ligation of the left coronary artery (LCA) could lead to increased miR-1 levels in the hippocampus and blood with neuronal microtubule damage and decreased TPPP/p25 protein expression in the hippocampus. These changes could be prevented by a knockdown of miR-1 using hippocampal stereotaxic injections of anti-miR-1 oligonucleotide fragments carried by a lentivirus vector (lenti-pre-AMO-miR-1)...
May 15, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#7
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/29774121/mir-33-promotes-myocardial-fibrosis-by-inhibiting-mmp16-and-stimulating-p38-mapk-signaling
#8
Zhen Chen, Hua-Sheng Ding, Xin Guo, Jing-Jing Shen, Di Fan, Yan Huang, Cong-Xin Huang
Myocardial fibrosis occurs in the late stages of many cardiovascular diseases, and appears to be stimulated by various microRNAs (miRNAs). We previously found that miR-33 may stimulate cardiac remodeling. Here, we examined the involvement of miR-33 in myocardial fibrosis. Proximal left coronary descending artery occlusion was performed in rat, and antagomiR-33a was injected. Primary cardiac fibroblasts were cultured and transfected with miR-33a mimics and inhibitors. miR-33a levels were increased in the rat after surgery, and collagen deposition and heart fibrosis were observed in vivo ...
April 24, 2018: Oncotarget
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
#9
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/29773421/r46l-polymorphism-in-the-pcsk9-gene-relationship-to-lipid-levels-subclinical-vascular-disease-and-erectile-dysfunction
#10
Jose M Mostaza, Carlos Lahoz, Miguel A Salinero-Fort, Olaya de Dios, Elisa Castillo, Teresa González-Alegre, Francisca García-Iglesias, Eva Estirado, Fernando Laguna, Concesa Sabín, Silvia López, Victor Cornejo, Carmen de Burgos, Vanesa Sanchez, Carmen Garcés
BACKGROUND: The R46L variant of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene has been related to lipid levels and cardiovascular disease. OBJECTIVE: To evaluate the influence of this polymorphism on subclinical vascular disease and erectile dysfunction (ED). METHODS: We analyzed the association of the PCSK9 rs11591147 single-nucleotide polymorphism with lipid levels, intima-media thickness (IMT), and the ankle-brachial index, in 1188 adults free of cardiovascular disease, randomly selected from the population...
April 21, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29773082/no-detectable-differential-microrna-expression-between-non-atherosclerotic-arteries-of-type-2-diabetic-patients-treated-or-untreated-with-metformin-and-non-diabetic-patients
#11
Lasse Bach Steffensen, Søren Feddersen, Simone Rørdam Preil, Lars Melholt Rasmussen
BACKGROUND: Type 2 diabetes mellitus (T2DM) is an independent risk factor of cardiovascular disease (CVD), however, the underlying mechanisms are largely unknown. Using non-atherosclerotic internal thoracic arteries (ITAs) obtained from coronary artery bypass grafting, we previously identified a distinct elevation in the level of proteins comprising the arterial basement membrane in T2DM patients not treated with metformin. Altered transcription of genes encoding these proteins has not been observed, indicating alternative mechanisms of dysregulation...
May 17, 2018: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/29769800/the-therapeutic-potential-of-blocking-galectin-3-expression-in-acute-myocardial-infarction-and-mitigating-inflammation-of-infarct-region-a-clinical-outcome-based-translational-study
#12
Wassim Mosleh, Milind R Chaudhari, Swati Sonkawade, Supriya Mahajan, Charl Khalil, Kevin Frodey, Tanvi Shah, Suraj Dahal, Roshan Karki, Rujuta Katkar, W Matthijs Blankesteijn, Brian Page, Saraswati Pokharel, Minhyung Kim, Umesh C Sharma
Introduction: Increased galectin-3 is associated with ischemic cardiomyopathy, although its role in early remodeling post-myocardial infarction (MI) has not been fully elucidated. There are no data demonstrating that blocking galectin-3 expression would have an impact on the heart and that its relationship to remodeling is not simply an epiphenomenon. The direct association between galectin-3 and myocardial inflammation, dysfunction, and adverse cardiovascular outcomes post-MI was examined using clinical and translational studies...
2018: Biomarker Insights
https://www.readbyqxmd.com/read/29769317/lysophospholipids-induce-innate-immune-transdifferentiation-of-endothelial-cells-resulting-in-prolonged-endothelial-activation
#13
Xinyuan Li, Luqiao Wang, Pu Fang, Yu Sun, Xiaohua Jiang, Hong Wang, Xiao-Feng Yang
Innate immune cells express danger-associated molecular pattern (DAMP) receptors, T-cell co-stimulation/co-inhibition receptors, and the major histocompatibility complex II (MHC-II). We have recently proposed that endothelial cells can serve as innate immune cells, but the molecular mechanisms involved still await discovery. Here, we investigated whether human aortic endothelial cells (HAECs) could be transdifferentiated into innate immune cells by exposing them to hyperlipidemia-upregulated DAMP molecules, i...
May 16, 2018: Journal of Biological Chemistry
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
#14
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
https://www.readbyqxmd.com/read/29767793/inhalation-of-house-dust-and-ozone-alters-systemic-levels-of-endothelial-progenitor-cells-oxidative-stress-and-inflammation-in-elderly-subjects
#15
Kim Jantzen, Annie Jensen, Ali Kermanizadeh, Grethe Elholm, Torben Sigsgaard, Peter Møller, Martin Roursgaard, Steffen Loft
Ambient air pollution including ozone and especially particulate matter represents important causes of cardiovascular disease. However, there is limited knowledge on indoor air dust with respect to this risk and the potential interactions between dust and ozone. Here, we exposed 23 healthy elderly subjects for 5.5 h, to either clean air, house dust at 275 µg/m3 (diameter < 2.5 µm), ozone at 100 ppb or combined house dust and ozone in a double-blinded randomized cross-over study. The combined house dust and ozone exposure was associated with a 48% (95% CI 24%-65%) decrease as compared with the clean air exposure, in CD34+KDR+ late endothelial progenitor cells (EPCs) per leukocyte in the blood shortly after exposure, whereas none of the single exposures resulted in a significant effect...
May 14, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29767668/genetic-variations-in-circadian-rhythm-genes-and-susceptibility-for-myocardial-infarction
#16
Ivana Škrlec, Jakov Milic, Marija Heffer, Borut Peterlin, Jasenka Wagner
Disruption of endogenous circadian rhythms has been shown to increase the risk of developing myocardial infarction (MI), suggesting that circadian genes might play a role in determining disease susceptibility. We conducted a case-control study on 200 patients hospitalized due to MI and 200 healthy controls, investigating the association between MI and single nucleotide polymorphisms (SNPs) in four circadian genes (ARNTL, CLOCK, CRY2, and PER2). The variants of all four genes were chosen based on their previously reported association with cardiovascular risk factors, which have a major influence on the occurrence of myocardial infarction...
May 14, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29767458/overlapping-but-distinct-roles-for-notch-receptors-in-human-cardiovascular-disease
#17
REVIEW
J A N Meester, A Verstraeten, M Alaerts, D Schepers, L Van Laer, B L Loeys
The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29765988/genetic-variability-of-the-glucose-dependent-insulinotropic-peptide-gene-is-involved-in-the-premature-coronary-artery-disease-in-a-chinese-population-with-type-2-diabetes
#18
Xiaowei Ma, Jia Huang, Difei Lu, Nan Gu, Ran Lu, Jianwei Zhang, Hong Zhang, Jianping Li, Junqing Zhang, Xiaohui Guo
Background: Glucose-dependent insulinotropic polypeptide (GIP) is closely related to diabetes and obesity, both of which are confirmed to increase the risk of coronary artery disease (CAD). Our study aimed to investigate whether the polymorphisms in GIP genes could affect the risk of cardiovascular disease in type 2 diabetic patients in the Chinese Han population. Methods: We selected and genotyped two haplotype-tagging single nucleotide polymorphisms (tag-SNPs) (rs2291725 C>T, rs8078510 G>A) of GIP gene based on CHB data in HapMap Phase II database ( r 2 < 0...
2018: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29764315/effects-of-egg-consumption-and-choline-supplementation-on-plasma-choline-and-trimethylamine-n-oxide-in-a-young-population
#19
Bruno S Lemos, Isabel Medina-Vera, Olga V Malysheva, Marie A Caudill, Maria Luz Fernandez
BACKGROUND: Plasma trimethylamine-N-oxide (TMAO) concentrations have been associated with cardiovascular disease risk. Eggs are a rich source of choline, which is a precursor of TMAO. OBJECTIVE: The effects of egg intake versus daily choline supplementation were evaluated on plasma choline and TMAO in a young, healthy population. METHODS: Thirty participants (14 males, 16 females; 25.6 ± 2.3 years; body mass index = 24.3 ± 2.9 kg/m2 ) were enrolled in this 13-week crossover intervention...
May 15, 2018: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/29762069/a-common-variation-in-the-caveolin-1-gene-is-associated-with-high-serum-triglycerides-and-metabolic-syndrome-in-an-admixed-latin-american-population
#20
Gustavo Mora-García, Doris Gómez-Camargo, Ángelo Alario, Claudio Gómez-Alegría
BACKGROUND: The caveolin 1 (CAV1) gene has been associated with metabolic traits in animal models and human cohorts. Recently, a prevalent variant in CAV1 has been found to be related to metabolic syndrome in Hispanics living in North America. Since Hispanics represent an admixed population at high risk for cardiovascular diseases, in this study a Latin American population with a similar genetic background was assessed. OBJECTIVE: To analyze a genetic association between CAV1 and metabolic traits in an admixed Latin American population...
May 15, 2018: Metabolic Syndrome and related Disorders
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