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Cardiovascular genetics

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https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#1
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29153377/iatrogenic-iron-overload-and-its-potential-consequences-in-patients-on-hemodialysis
#2
Guy Rostoker, Nosratola D Vaziri
Iron overload was considered rare in hemodialysis patients until recently, but its clinical frequency is now increasingly recognized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosiderosis and genetic hemochromatosis. Magnetic resonance imaging (MRI) is now the gold standard method for estimating and monitoring LIC. Studies of LIC in hemodialysis patients by magnetic susceptometry thirteen years ago and recently by quantitative MRI have demonstrated a relation between the risk of iron overload and the use of intravenous (IV) iron products prescribed at doses determined by the iron biomarker cutoffs contained in current anemia management guidelines...
November 16, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29153180/a-100-year-review-progress-on-the-chemistry-of-milk-and-its-components
#3
John A Lucey, Don Otter, David S Horne
Understanding the chemistry of milk and its components is critical to the production of consistent, high-quality dairy products as well as the development of new dairy ingredients. Over the past 100 yr we have gone from believing that milk has only 3 protein fractions to identifying all the major and minor types of milk proteins as well as discovering that they have genetic variants. The structure and physical properties of most of the milk proteins have been extensively studied. The structure of the casein micelle has been the subject of many studies, and the initial views on submicelles have given way to the current model of the micelle as being assembled as a result of the concerted action of several types of interactions (including hydrophobic and the formation of calcium phosphate nanoclusters)...
December 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#4
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29150149/pregnancy-and-heart-disease-pregnancy-associated-hypertension-and-peripartum-cardiomyopathy
#5
Tobias Jonathan Pfeffer, Denise Hilfiker-Kleiner
Cardiovascular diseases are major complications in pregnancy worldwide and the number of patients who develop cardiac problems during pregnancy is increasing. Pregnancy-associated hypertensive complications such as pre-eclampsia (PE) or peripartum cardiomyopathy (PPCM) are potentially life-threatening heart diseases emerging during pregnancy, under delivery or in the first postpartal months in previously healthy women. Both disease entities display substantial morbidity and mortality in the acute phase. Long-term effects are just beginning to be evaluated...
October 31, 2017: Current Problems in Cardiology
https://www.readbyqxmd.com/read/29149254/invited-commentary-gestational-hypertension-and-diabetes-a-major-public-health-concern
#6
Lewis H Kuller, Janet Catov
The obesity epidemic in the United States and other countries has contributed to an increase in the rates of gestational diabetes and hypertension. In the past, it was thought that most cases of gestational diabetes and hypertension would resolve after completion of pregnancy. In this issue of the Journal, Pace et al. (Am J Epidemiol. 2017;186(10):1115-1124) clearly documented that both gestational diabetes and hypertension lead to diabetes and hypertension and that the combination of both during pregnancy leads to very high rates of subsequent diabetes and hypertension...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29141531/statins-in-aortic-disease
#7
Vicky Tsigkou, Gerasimos Siasos, Eva Mpletsa, Maria-Paraskevi Panoilia, Aggeliki Papastavrou, Giorgos Kokosias, Evangelos Oikonomou, Marina Zaromitidou, Manolis Vavuranakis, Christodoulos Stefanadis, Dimitris Tousoulis
BACKGROUND: Numerous studies indicate that statins have also multiple beneficial actions (known as 'pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, increased arterial thrombosis, and the stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29141072/association-of-cetp-gene-variants-with-risk-for-vascular-and-nonvascular-diseases-among-chinese-adults
#8
Iona Y Millwood, Derrick A Bennett, Michael V Holmes, Ruth Boxall, Yu Guo, Zheng Bian, Ling Yang, Sam Sansome, Yiping Chen, Huaidong Du, Canqing Yu, Alex Hacker, Dermot F Reilly, Yunlong Tan, Michael R Hill, Junshi Chen, Richard Peto, Hongbing Shen, Rory Collins, Robert Clarke, Liming Li, Robin G Walters, Zhengming Chen
Importance: Increasing levels of high-density lipoprotein (HDL) cholesterol through pharmacologic inhibition of cholesteryl ester transfer protein (CETP) is a potentially important strategy for prevention and treatment of cardiovascular disease (CVD). Objective: To use genetic variants in the CETP gene to assess potential risks and benefits of lifelong lower CETP activity on CVD and other outcomes. Design, Setting, and Participants: This prospective biobank study included 151 217 individuals aged 30 to 79 years who were enrolled from 5 urban and 5 rural areas of China from June 25, 2004, through July 15, 2008...
November 15, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29138634/the-synergistic-interplay-between-vitamins-d-and-k-for-bone-and-cardiovascular-health-a-narrative-review
#9
REVIEW
Adriana J van Ballegooijen, Stefan Pilz, Andreas Tomaschitz, Martin R Grübler, Nicolas Verheyen
Vitamins D and K are both fat-soluble vitamins and play a central role in calcium metabolism. Vitamin D promotes the production of vitamin K-dependent proteins, which require vitamin K for carboxylation in order to function properly. The purpose of this review is to summarize available evidence of the synergistic interplay between vitamins D and K on bone and cardiovascular health. Animal and human studies suggest that optimal concentrations of both vitamin D and vitamin K are beneficial for bone and cardiovascular health as supported by genetic, molecular, cellular, and human studies...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29138211/transcriptome-sequencing-of-the-naked-mole-rat-heterocephalus-glaber-and-identification-of-hypoxia-tolerance-genes
#10
Bang Xiao, Li Li, Chang Xu, Shanmin Zhao, Lifang Lin, Jishuai Cheng, Wenjing Yang, Wei Cong, Guanghan Kan, Shufang Cui
The naked mole rat (NMR; Heterocephalus glaber) is a small rodent species found in regions of Kenya, Ethiopia and Somalia. It has a high tolerance for hypoxia and is thus, considered one of the most important natural models for studying hypoxia tolerance mechanisms. The various mechanisms underlying the NMR's hypoxia tolerance are beginning to be understood at different levels of organization, and next-generation sequencing methods promise to expand this understanding to the level of gene expression. In this study, we examined the sequence and transcript abundance data of the muscle transcriptome of NMRs exposed to hypoxia using the Illumina HiSeq 2500 system to clarify the possible genomic adaptive responses to the hypoxic underground surroundings...
November 14, 2017: Biology Open
https://www.readbyqxmd.com/read/29135687/environmental-and-epigenetic-regulation-of-postprandial-lipemia
#11
Laurence D Parnell, Jose M Ordovas, Chao-Qiang Lai
PURPOSE OF REVIEW: Postprandial lipemia (PPL), the prolonged increase in plasma triglyceride-rich lipoproteins following food consumption, is an independent risk factor for cardiovascular disease. Genetic variation, environment and the interplay between these direct an individual's postprandial lipid response. From such interplay, inducible and reversible epigenetic changes arise. Increasing evidence suggests epigenetic variation contributes to postprandial response in lipids and risk...
November 11, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29135487/update-on-endocrine-aspects-of-childhood-obesity
#12
Charumathi Baskaran, Nurgun Kandemir
PURPOSE OF REVIEW: Although childhood obesity has leveled off in the last decade, 'severe obesity' continues to be on the rise. Various genetic, environmental and hormonal factors contribute to obesity. This article reviews the most current understanding of obesity's multifactorial origin and recent recommendations for its management in childhood and adolescence. RECENT FINDINGS: Epigenetics plays a key role in transmitting obesity risk to offspring. Single-nucleotide polymorphisms at genetic loci for adipokines and their receptors are associated with obesity...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29133521/circulating-total-bilirubin-and-future-risk-of-hypertension-in-the-general-population-the-prevention-of-renal-and-vascular-end-stage-disease-prevend-prospective-study-and-a-mendelian-randomization-approach
#13
Setor K Kunutsor, Lyanne M Kieneker, Stephen Burgess, Stephan J L Bakker, Robin P F Dullaart
BACKGROUND: Circulating total bilirubin is known to be inversely and independently associated with future risk of cardiovascular disease. However, the relationship of circulating total bilirubin with incident hypertension is uncertain. We aimed to assess the association of total bilirubin with future hypertension risk and supplemented this with a Mendelian randomization approach to investigate any causal relevance to the association. METHODS AND RESULTS: Plasma total bilirubin levels were measured at baseline in the PREVEND (Prevention of Renal and Vascular End-Stage Disease) prospective study of 3989 men and women without hypertension...
November 13, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29133215/myocardial-infarction-and-gut-microbiota-an-incidental-connection
#14
REVIEW
Sepideh Zununi Vahed, Abolfazl Barzegari, Marisol Zuluaga, Didier Letourneur, Graciela Pavon-Djavid
Myocardial infarction (MI) is the main cause of cardiovascular crises that entails serious concerns in mortality, morbidity, and cost to the society. The main therapeutic goal of modern cardiology is to develop novel approaches to minimize inflammation, myocardial necrosis/apoptosis, and enhance cardiac repair after MI. Though MI can be affected by genetic and environmental factors, the search for targeting lifestyle factors has been of greater interest. One such potential factor is the microbiota, the human intestinal microbial community...
November 10, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29130312/protein-s-nitrosylation-determinants-of-specificity-and-enzymatic-regulation-of-s-nitrosothiol-based-signaling
#15
Colin T Stomberski, Douglas T Hess, Jonathan Stamler
SIGNIFICANCE: Protein S-nitrosylation, the oxidative modification of cysteine by nitric oxide (NO) to form protein S-nitrosothiols (SNOs), mediates redox-based signaling that largely conveys the ubiquitous influence of NO on cellular function. S-nitrosylation regulates protein activity, stability, localization and protein-protein interactions across myriad physiological processes, and aberrant S-nitrosylation is associated with diverse pathophysiologies. Recent Advances: It is recently recognized that S-nitrosylation endows SNO-proteins with trans-S-nitrosylase activity, i...
November 12, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29130076/crispr-correction-of-a-homozygous-low-density-lipoprotein-receptor-mutation-in-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#16
Linda Omer, Elizabeth A Hudson, Shirong Zheng, James B Hoying, Yuan Shan, Nolan L Boyd
Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered. Liver transplant can resolve HoFH, and hepatocyte transplantation has shown promising results in animals and humans...
November 2017: Hepatol Commun
https://www.readbyqxmd.com/read/29129812/influence-of-lgals3-gene-polymorphisms-on-susceptibility-and-prognosis-of-dilated-cardiomyopathy-in-a-northern-han-chinese-population
#17
Yuhui Zhang, Yunhong Wang, Mei Zhai, Tianyi Gan, Xuemei Zhao, Rongcheng Zhang, Tao An, Yan Huang, Qiong Zhou, Jian Zhang
BACKGROUND: Galectin-3 plays an important role in modulating cardiac inflammation and fibrosis. It also takes part in the pathways underlying cardiac remodeling. Therefore, LGALS3 gene, encoding galectin-3 protein, is a promising candidate for the genetic study of dilated cardiomyopathy (DCM). To date, there has been no research evaluating the association between LGALS3 gene polymorphisms and the susceptibility and prognosis of DCM. METHODS AND RESULTS: Genotyping of 4 single nucleotide polymorphisms (SNPs) in the LGALS3 gene, which were reported to be functional in the literature, was performed in 279 unrelated clinically diagnosed DCM patients and 363 apparently healthy controls from Northern Han Chinese population using iPLEX SNP Genotyping analysis on a Sequenom MassARRAY System...
November 9, 2017: Gene
https://www.readbyqxmd.com/read/29128916/cardiometabolic-risk-in-pcos-more-than-a-reproductive-disorder
#18
REVIEW
Laura C Torchen
PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is diagnosed by its characteristic reproductive features. However, PCOS is also associated with metabolic abnormalities, including insulin resistance and β-cell dysfunction. The severity of these abnormalities varies according to the reproductive phenotype, with the so-called NIH or classic phenotype conferring the greatest metabolic risk. The increased risk for type 2 diabetes (T2D) is well established among affected women with the NIH phenotype, but whether PCOS also confers an increased risk for cardiovascular events remains unknown...
November 11, 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/29128340/the-interaction-between-a-hsp-70-gene-variant-with-dietary-calories-in-determining-serum-markers-of-inflammation-and-cardiovascular-risk
#19
Mehrane Mehramiz, Seyed Mahdi Hassanian, Maryam Mardan-Nik, Alireza Pasdar, Khadijeh Jamialahmadi, Hamid Fiuji, Mehrdad Moetamani-Ahmadi, Seyed Mohammad Reza Parizadeh, Mohsen Moohebati, Alireza Heidari-Bakavoli, Mahmoud Ebrahimi, Gordon A Ferns, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND: The high prevalence of cardiovascular disease (CVD) globally is attributable to an interaction between environmental and genetic factors. Gene × diet interaction studies aim to explore how a modifiable factor interacts with genetic predispositions. Here we have explored the interaction of a heat shock protein (HSP70) gene polymorphism (+1267A > G) with dietary intake and their possible association with serum C-reactive protein (CRP), an inflammatory marker, that is a major component of CVD risk...
October 24, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29127221/genetics-of-metabolic-syndrome-potential-clues-from-wild-derived-inbred-mouse-strains
#20
Subashini Karunakaran, Susanne Michelle Clee
The metabolic syndrome (MetS) is a complex constellation of metabolic abnormalities including obesity, abnormal glucose metabolism, dyslipidemia, and elevated blood pressure that together substantially increase risk for cardiovascular disease and type 2 diabetes. Both genetic and environmental factors contribute to the development of MetS, but this process is still far from understood. Human studies have revealed only part of the underlying basis. Studies in mice offer many strengths that can complement human studies to help elucidate the etiology and pathophysiology of MetS...
November 10, 2017: Physiological Genomics
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