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Inherited cardiovascular

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https://www.readbyqxmd.com/read/28820484/platelet-aggregometry-testing-molecular-mechanisms-techniques-and-clinical-implications
#1
REVIEW
Katalin Koltai, Gabor Kesmarky, Gergely Feher, Antal Tibold, Kalman Toth
Platelets play a fundamental role in normal hemostasis, while their inherited or acquired dysfunctions are involved in a variety of bleeding disorders or thrombotic events. Several laboratory methodologies or point-of-care testing methods are currently available for clinical and experimental settings. These methods describe different aspects of platelet function based on platelet aggregation, platelet adhesion, the viscoelastic properties during clot formation, the evaluation of thromboxane metabolism or certain flow cytometry techniques...
August 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28801030/lipoprotein-a-screening-in-patients-with-controlled-traditional-risk-factors-undergoing-percutaneous-coronary-intervention
#2
Matthew C Weiss, Jeffrey S Berger, Eugenia Gianos, Edward Fisher, Arthur Schwartzbard, James Underberg, Howard Weintraub
BACKGROUND: Lipoprotein(a) [Lp(a)] is an inherited atherogenic lipoprotein and an independent risk factor for atherosclerotic cardiovascular disease; however, its clinical role remains limited. OBJECTIVE: We hypothesized that Lp(a) screening in high cardiovascular risk patients could provide insight into disease pathogenesis and modify physician behavior for treatment intensification targeting traditional risk factors when Lp(a)-related risk was identified. METHODS: We screened 113 patients presenting electively for percutaneous coronary intervention (PCI) for Lp(a) who met any of the following criteria: (1) premature coronary artery disease (male age <55 years, female age <65 years); (2) family history of premature coronary artery disease; (3) progression to PCI despite well-controlled traditional risk factors (blood pressure <140/90 mm Hg, and low-density lipoprotein cholesterol <100 mg/dL, and HbA1c <7%, and nonsmoker); or (4) progression to PCI despite at least moderate intensity statin use (simvastatin 40, atorvastatin 40-80, or rosuvastatin 20-40 mg daily)...
July 22, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28793796/platelet-enriched-micrornas-and-cardiovascular-homeostasis
#3
Amro Elgheznawy, Ingrid Fleming
SIGNIFICANCE: Platelets are anucleate blood cells involved in hemostasis and thrombosis. Although no longer able to generate RNA de novo, platelets contain mRNA, YRNA fragments and premature microRNAs (miRNAs) that inherit from megakaryocytes. Recent Advances. Novel sequencing techniques have helped identify the unexpectedly large number of RNA species present in platelets. Throughout their life time platelets can process the pre-existing pool of premature miRNA to give the fully functional miRNA that can regulated platelet protein expression and function...
August 10, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28793145/role-of-genetic-testing-in-inherited-cardiovascular-disease-a-review
#4
Allison L Cirino, Stephanie Harris, Neal K Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M Day, Dominic J Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P Judge, Carolyn Y Ho
Importance: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28772107/family-specific-aggregation-of-lipid-gwas-variants-confers-the-susceptibility-to-familial-hypercholesterolemia-in-a-large-austrian-family
#5
Elina Nikkola, Arthur Ko, Marcus Alvarez, Rita M Cantor, Kristina Garske, Elliot Kim, Stephanie Gee, Alejandra Rodriguez, Reinhard Muxel, Niina Matikainen, Sanni Söderlund, Mahdi M Motazacker, Jan Borén, Claudia Lamina, Florian Kronenberg, Wolfgang J Schneider, Aarno Palotie, Markku Laakso, Marja-Riitta Taskinen, Päivi Pajukanta
BACKGROUND AND AIMS: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find genetic causes leading to high LDL-C levels and ultimately CVD in a large Austrian family presenting with what appears to be autosomal dominant inheritance for familial hypercholesterolemia (FH)...
July 22, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28750703/translational-perspective-on-epigenetics-in%C3%A2-cardiovascular-disease
#6
REVIEW
Pim van der Harst, Leon J de Windt, John C Chambers
A plethora of environmental and behavioral factors interact, resulting in changes in gene expression and providing a basis for the development and progression of cardiovascular diseases. Heterogeneity in gene expression responses among cells and individuals involves epigenetic mechanisms. Advancing technology allowing genome-scale interrogation of epigenetic marks provides a rapidly expanding view of the complexity and diversity of the epigenome. In this review, the authors discuss the expanding landscape of epigenetic modifications and highlight their importance for future understanding of disease...
August 1, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28747541/obesity-a-serious-etiologic-factor-for-male-subfertility-in-modern-society
#7
Yue Liu, Zhide Ding
Obesity, defined as excessive accumulation of fat in adipose tissue, is a metabolic disorder resulting from behavioral, environmental and heritable causes. Such malfunction increases the risk of developing hypertension, diabetes, cardiovascular disease, respiratory problems, osteoarthritis and cancer. Meanwhile, the negative impact of obesity on male reproduction is gradually being recognized. According to clinical investigations and animal experiments, obesity is correlated with reductions in sperm concentration and motility, increases in sperm DNA damage and changes in reproductive hormonal levels...
July 26, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#8
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28716248/interleukin-6-il-6-rs1800796-and-cyclin-dependent-kinase-inhibitor-cdkn2a-cdkn2b-rs2383207-are-associated-with-ischemic-stroke-in-indigenous-west-african-men
#9
Rufus Akinyemi, Donna K Arnett, Hemant K Tiwari, Bruce Ovbiagele, Fred Sarfo, Vinodh Srinivasasainagendra, Marguerite Ryan Irvin, Abiodun Adeoye, Rodney T Perry, Albert Akpalu, Carolyn Jenkins, Lukman Owolabi, Reginald Obiako, Kolawole Wahab, Emmanuel Sanya, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Godwin Osaigbovo, Taofiki Sunmonu, Paul Olowoyo, Innocent Chukwuonye, Yahaya Obiabo, Onoja Akpa, Sylvia Melikam, Raelle Saulson, Raj Kalaria, Adesola Ogunniyi, Mayowa Owolabi
BACKGROUND: Inherited genetic variations offer a possible explanation for the observed peculiarities of stroke in sub - Saharan African populations. Interleukin-6 polymorphisms have been previously associated with ischemic stroke in some non-African populations. AIM: Herein we investigated, for the first time, the association of genetic polymorphisms of IL-6, CDKN2A- CDKN2B and other genes with ischemic stroke among indigenous West African participants in the Stroke Investigative Research and Education Network (SIREN) Study...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28713862/metabolic-surgery-gastric-bypass-for-the-treatment-of-type-2-diabetes-mellitus
#10
REVIEW
Maria Del Pilar Quevedo, Mariano Palermo, Edgardo Serra, Marianela A Ackermann
Type 2 diabetes mellitus (T2DM) is one of the largest health emergencies of the 21st century given the worldwide increase of obesity during the last decades and its close association. T2DM is an inherited, polygenic and chronic disease caused by the interaction between several genetic variants in genes and the environment. The continuous search for new and more effective tools to achieve appropriate glycemic control became imperative in order to reduce long-term complications and mortality rates related to T2DM...
2017: Translational Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28694860/postpartum-aortic-bifurcation-thrombosis-on-the-background-of-thrombophilic-disorder
#11
Roxana Elena Bohîltea, Natalia Turcan, Horia Muresian, Silvia Condu, Elvira Bratila, Monica Mihaela Cîrstoiu
Two main causes of arterial thrombosis are known: fi rst - atherosclerosis, extensively studied, and the second - atrial fi brillation. The lack of any risk factors and the occurrence at young age of a thrombotic event requires us to investigate possible other conditions, including inherited thrombophilia that is represented by a series of genetic disorders that increase the risk of thromboembolic disease. The role of thrombophilia in the occurrence of arterial thrombosis is inconsequential; this disorder is characterized by the tendency of developing venous thrombosis...
September 2016: Mædica
https://www.readbyqxmd.com/read/28685504/statins-for-children-with-familial-hypercholesterolemia
#12
REVIEW
Alpo Vuorio, Jaana Kuoppala, Petri T Kovanen, Steve E Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Diagnosis of familial hypercholesterolemia in children is based on elevated total cholesterol and low-density lipoprotein cholesterol levels or DNA-based analysis, or both...
July 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28684050/thrombophilic-and-cardiovascular-risk-factors-for-retinal-vein-occlusion
#13
Paolo Bucciarelli, Serena M Passamonti, Francesca Gianniello, Andrea Artoni, Ida Martinelli
BACKGROUND: The role of thrombophilic and cardiovascular risk factors in different manifestations of retinal vein occlusion (RVO), i.e., central or branch RVO, and at different ages is still debated. AIMS: To evaluate the association between thrombophilic and cardiovascular risk factors and the risk of RVO (overall, separately for central and branch RVO, and at different ages). METHODS: Case-control study on 313 patients with a first objectively-confirmed RVO (216 central and 97 branch RVO) and 415 healthy individuals...
July 3, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28682033/-adpkd-and-heart
#14
Francesca Liut, Claudia Izzi, Nadia Dallera, Francesco Scolari
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28644091/prevention-of-cardiovascular-disease-in-patients-with-familial-hypercholesterolaemia-the-role-of-pcsk9-inhibitors
#15
Ivan Pećin, Merel L Hartgers, G Kees Hovingh, Ricardo Dent, Željko Reiner
Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolaemia is relatively common, but is often underdiagnosed and undertreated. Cardiologists are likely to encounter many individuals with familial hypercholesterolaemia; however, patients presenting with premature ASCVD are rarely screened for familial hypercholesterolaemia and fasting lipid levels are infrequently documented...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28636007/analysis-of-association-of-gene-variants-with-obesity-traits-in-new-zealand-european-children-at-6-years-of-age
#16
Mohanraj Krishnan, John M D Thompson, Edwin A Mitchell, Rinki Murphy, Lesley M E McCowan, Andrew N Shelling, G On Behalf Of The Children Of Scope Study Group
Childhood obesity is a public health problem, which is associated with a long-term increased risk of cardiovascular disease and premature mortality. Several gene variants have previously been identified that have provided novel insights into biological factors that contribute to the development of obesity. As obesity tracks through childhood into adulthood, identification of the genetic factors for obesity in early life is important. The objective of this study was to identify putative associations between genetic variants and obesity traits in children at 6 years of age...
July 25, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#17
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28611029/whole-exome-sequencing-identifies-truncating-variants-in-nuclear-envelope-genes-in-patients-with-cardiovascular-disease
#18
Gloria T Haskell, Brian C Jensen, Leigh Ann Samsa, Daniel Marchuk, Wei Huang, Cecile Skrzynia, Christian Tilley, Bryce A Seifert, Edgar A Rivera-Muñoz, Beverly Koller, Kirk C Wilhelmsen, Jiandong Liu, Hassan Alhosaini, Karen E Weck, James P Evans, Jonathan S Berg
BACKGROUND: The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. METHODS AND RESULTS: We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease genes identified pathogenic variants in 21.8% of cases and variants of uncertain significance in 34...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28598687/lomitapide-for-the-treatment-of-hypercholesterolemia
#19
Amanda J Berberich, Robert A Hegele
Homozygous familial hypercholesterolemia (HoFH) is a serious rare inherited condition that leads to extremely elevated levels of low density lipoprotein cholesterol (LDL-C), and predisposes affected individuals to high risk of atherosclerotic vascular disease. Traditional therapies are largely ineffective in managing the hypercholesterolemia in these patients; diet and regular LDL-apheresis are the mainstays of management. Lomitapide is an inhibitor of microsomal triglyceride transfer protein (MTP) that blocks the assembly of metabolic precursors of LDL particles...
July 30, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28584496/marfan-syndrome
#20
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common...
January 2017: Journal of Pharmacy & Bioallied Sciences
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