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https://www.readbyqxmd.com/read/28643218/empagliflozin-improves-left-ventricular-diastolic-dysfunction-in-a-genetic-model-of-type-2-diabetes
#1
Nadjib Hammoudi, Dongtak Jeong, Rajvir Singh, Ahmed Farhat, Michel Komajda, Eric Mayoux, Roger Hajjar, Djamel Lebeche
PURPOSE: Cardiovascular (CV) diseases in type 2 diabetes (T2DM) represent an enormous burden with high mortality and morbidity. Sodium-glucose cotransporter 2 (SGLT2) inhibitors have recently emerged as a new antidiabetic class that improves glucose control, as well as body weight and blood pressure with no increased risk of hypoglycemia. The first CV outcome study terminated with empagliflozin, a specific SGLT2 inhibitor, has shown a reduction in CV mortality and in heart failure hospitalization, suggesting a beneficial impact on cardiac function which remains to be demonstrated...
June 22, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28642868/an-exploration-of-gene-gene-interactions-and-their-effects-on-hypertension
#2
Ying Meng, Susan Groth, Jill R Quinn, John Bisognano, Tong Tong Wu
Hypertension tends to perpetuate in families and the heritability of hypertension is estimated to be around 20-60%. So far, the main proportion of this heritability has not been found by single-locus genome-wide association studies. Therefore, the current study explored gene-gene interactions that have the potential to partially fill in the missing heritability. A two-stage discovery-confirmatory analysis was carried out in the Framingham Heart Study cohorts. The first stage was an exhaustive pairwise search performed in 2320 early-onset hypertensive cases with matched normotensive controls from the offspring cohort...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28641522/advances-on-ppar%C3%AE-research-in-the-emerging-era-of-precision-medicine
#3
Pinyi Lu, Zhongming Zhao
BACKGROUND: Peroxisome proliferator-activated receptor gamma (PPARγ) is a member of the nuclear receptor superfamily that functions as a ligand-inducible transcription factor. It regulates glucose and lipid metabolism, immunity, and cellular growth and differentiation. Thiazolidinediones (TZDs) are potent insulin sensitizers that function by activating PPARs, with a high specificity for PPARγ. Due to their ability to preserve pancreatic beta cell function and reduce insulin resistance, TZDs have become one of the most prescribed classes of medications for type 2 diabetes (T2D) since their approval by the US Food and Drug Administration (FDA) and initial use in 1997...
June 21, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28641521/lncrna-hotair-polymorphisms-association-with-cancer-susceptibility-in-different-tumor-types
#4
Gerardo Botti, Francesca Collina, Giosuè Scognamiglio, Gabriella Aquino, Margherita Cerrone, Giuseppina Liguori, Vincenzo Gigantino, Maria Gabriella Malzone, Monica Cantile
Single nucleotide polymorphisms (SNPs) in non coding RNAs (ncRNA) molecules affect gene and protein expression and generate genetic variability influencing the risk of tumor diseases. HOTAIR is locates at the heart of the cell memory gene program and represents a prototype of long non coding RNA (LncRNA) due to its capacity to regulate in-trans a distant chromosome landscape. Aberrant expression of HOTAIR is frequently associated with pathogenesis and mostly with metastatic progression of several human cancers...
June 21, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28640647/influence-of-prkch-gene-polymorphism-on-antihypertensive-response-to-amlodipine-and-telmisartan
#5
Zan-Ling Zhang, Miao-Miao Zhu, Hui-Lan Li, Li-Hong Shi, Xiao-Ping Chen, Jia Luo, Jin-Feng Zhao
This study aimed to evaluate the effect of PRKCH rs2230500 genetic polymorphism on efficacy of amlodipine and telmisartan for patients with hypertension. A total of 136 essential hypertension (EH) patients were treated with amlodipine (70 patients) or telmisartan (66 patients), respectively. Genetic polymorphism was genotyped by Sanger sequencing. Both baseline and post-treatment blood pressure (BP) and heart rate were measured to evaluate the influence of genetic polymorphism on the antihypertensive response...
June 22, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28639375/challenges-in-regenerating-the-diabetic-heart-a-comprehensive-review
#6
REVIEW
Venkata R Satthenapalli, Regis R Lamberts, Rajesh Katare
Stem cell therapy is one of the promising regenerative strategies developed to improve cardiac function in patients with ischemic heart diseases (IHD). However, this approach is limited in IHD patients with diabetes due to a progressive decline in the regenerative capacity of stem cells. This decline is mainly attributed to the metabolic memory incurred by diabetes on stem cell niche and their systemic cues. Understanding the molecular pathways involved in the diabetes-induced deterioration of stem cell function will be critical for developing new cardiac regeneration therapies...
June 22, 2017: Stem Cells
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#7
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637897/heritability-of-resting-heart-rate-and-association-with-mortality-in-middle-aged-and-elderly-twins
#8
Magnus T Jensen, Mette Wod, Søren Galatius, Jacob B Hjelmborg, Gorm B Jensen, Kaare Christensen
OBJECTIVE: Resting heart rate (RHR) possibly has a hereditary component and is associated with longevity. We used the classical biometric twin study design to investigate the heritability of RHR in a population of middle-aged and elderly twins and, furthermore, studied the association between RHR and mortality. METHODS: In total, 4282 twins without cardiovascular disease were included from the Danish Twin Registry, hereof 1233 twin pairs and 1816 'single twins' (twins with a non-participating co-twin); mean age 61...
June 21, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28637782/the-brugada-syndrome-susceptibility-gene-hey2-modulates-cardiac-transmural-ion-channel-patterning-and-electrical-heterogeneity
#9
Christiaan C Veerman, Svitlana Podliesna, Rafik Tadros, Elisabeth M Lodder, Isabella Mengarelli, Berend de Jonge, Leander Beekman, Julien Barc, Ronald Wilders, Arthur A Wilde, Bastiaan J Boukens, Ruben Coronel, Arie Verkerk, Carol Ann Remme, Connie R Bezzina
Rationale: Genome-wide association studies previously identified an association of rs9388451 at chromosome 6q22.3 (near HEY2) with Brugada syndrome (BrS). The causal gene and underlying mechanism remain unresolved. Objective: We used an integrative approach entailing transcriptomic studies in human hearts and electrophysiological studies in Hey2 heterozygous knockout mice (Hey2(+/-) ) to dissect the underpinnings of the 6q22.31 association with BrS. Methods and Results: We queried expression quantitative trait locus (eQTL) data acquired in 190 human left ventricular (LV) samples from the Genotype-Tissue Expression (GTEx) consortium for cis-eQTL effects of rs9388451 which revealed an association between BrS risk allele dosage and HEY2 expression (β=+0...
June 21, 2017: Circulation Research
https://www.readbyqxmd.com/read/28637196/chronological-change-of-right-ventricle-by-chronic-intermittent-hypoxia-in-mice
#10
Hyung-Ju Cho, Woon Heo, Jung Woo Han, Yong Hyuk Lee, Jin Myung Park, Min Jung Kang, Joo-Heon Yoon, Min Goo Lee, Chang-Hoon Kim, Joo Young Kim
Study Objective: No studies have investigated sequential changes in the heart on MRI, along with observation of functional lung phenotypes and genetics, over the duration of chronic intermittent hypoxia (CIH). We investigated chronological changes in heart and lung phenotypes after CIH using a mouse model to provide new insights into the pathophysiology of sleep apnea-induced cardiovascular disease. Methods: C57BL/6J adult male mice were randomized to 4 weeks or 8 weeks of CIH...
June 20, 2017: Sleep
https://www.readbyqxmd.com/read/28636371/iron-oxidation-and-core-formation-in-recombinant-heteropolymeric-human-ferritins
#11
Matthew R Mehlenbacher, Maura Poli, Paolo Arosio, Paolo Santambrogio, Sonia Levi, N Dennis Chasteen, Fadi Bou-Abdallah
In animals, the iron storage and detoxification protein, ferritin, is composed of two functionally and genetically distinct subunit types, H (Heavy) and L (Light), which co-assemble in various ratios with tissue specific distributions to form shell-like protein structures of 24 subunits within which a mineralized iron core is stored. The H-subunit possesses a ferroxidase center (FC) which catalyzes Fe(II) oxidation whereas the L-subunit does not. To assess the role of the L-subunit in iron oxidation and core formation, two human recombinant heteropolymeric ferritins, designated H-rich and L-rich with ratios of ~ 20H:4L and ~ 22L:2H, respectively, were employed and compared to the human homopolymeric H-subunit ferritin (HuHF)...
June 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/28633205/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#12
EDITORIAL
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, Timothy J Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group of experts from June 2 to 3, 2016, in Bethesda, Maryland, to develop NHLBI recommendations aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MCS devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
July 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#13
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28629487/learning-and-memory-in-adolescents-with-critical-biventricular-congenital-heart-disease
#14
Adam R Cassidy, Jane W Newburger, David C Bellinger
OBJECTIVES: Although evidence exists of broadly defined memory impairment among adolescents with critical congenital heart disease (CHD), nuanced investigations of declarative memory in this at-risk population have not been conducted. This study had two primary aims: (1) to conduct a fine-grained analysis of a range of relevant learning and memory processes in adolescents with critical biventricular CHD, and (2) to identify risk, odds, and predictors of memory impairment. METHODS: Data were combined from two single-center studies of neurodevelopmental outcomes in critical CHD...
June 20, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28628345/personalizing-antiplatelet-therapies-what-have-we-learned-from-recent-trials
#15
Sébastien Landry, Jean-François Tanguay, Marie Lordkipanidzé
Dual antiplatelet therapy with aspirin and a P2Y12 receptor antagonist is currently the standard of care for the prevention of ischemic events in patients with acute coronary syndrome or undergoing percutaneous coronary intervention. Several studies have shown that not all patients benefit from the treatment to the same degree and demonstrated that high on-treatment platelet reactivity may be associated with an increased risk of thrombotic events, while low on-treatment platelet reactivity may be linked to a higher risk of bleeding...
June 19, 2017: Platelets
https://www.readbyqxmd.com/read/28627836/dna-based-identification-of-a-carbonized-victim-by-kinship-analysis
#16
Raluca Dumache, Alexandru F Rogobete, Veronica Ciocan, Camelia O Muresan, Alexandra Enache
BACKGROUND: Our study will present the DNA identification of a carbonized victim using the DNA genotyping and by comparing the victim's DNA genotype with his parents' genotypes. METHODS: Blood obtained from the heart chambers was used for the identification of the carbonized body's genotype. Biological samples were also obtained by buccal swabs from his biological parents. We used an ABI 7500 real-time PCR system for quantification and a ProFlex PCR System to amplify...
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28627637/lentiviral-vector-mediated-co-overexpression-of-vegf-and-bcl-2-improves-mesenchymal-stem-cell-survival-and-enhances-paracrine-effects-in%C3%A2-vitro
#17
Xiaobin Ni, Caiwen Ou, Jingbin Guo, Bei Liu, Jianwu Zhang, Zhiye Wu, Hekai Li, Minsheng Chen
Mesenchymal stem cell (MSC) transplantation has emerged as a promising therapy for ischemic heart disease; however, the low survival rate of transplanted cells limits their therapeutic efficacy. The aim of this study was to investigate whether the dual genetic modification of vascular endothelial growth factor (VEGF) and B‑cell lymphoma‑2 (Bcl‑2) confers a higher expression level of the target genes, better survival and a stronger paracrine effect in MSCs in an adverse environment than the modification of the individual genes...
June 12, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#18
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28625550/maternal-exposure-to-western-diet-affects-adult-body-composition-and-voluntary-wheel-running-in-a-genotype-specific-manner-in-mice
#19
Layla Hiramatsu, Jarren Kay, Zoe Thompson, Jennifer Singleton, Gerald Claghorn, Ralph Lacerda de Albuquerque, Brittany Ho, Brett Ho, Gabriela Sanchez, Theodore Garland
Some human diseases, including obesity, Type II diabetes, and numerous cancers, are thought to be influenced by environments experienced in early life, including in utero. Maternal diet during the perinatal period may be especially important for adult offspring energy balance, potentially affecting both body composition and physical activity. This effect may be mediated by the genetic background of individuals, including, for example, potential "protective" mechanisms for individuals with inherently high levels of physical activity or high basal metabolic rates...
June 15, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28624653/giant-ring-mitochondria-in-a-patient-with-heart-failure-and-cerebral-white-matter-disease-due-to-mt-tl1-mitochondrial-gene-mutation
#20
Brian A Houston, Daniel P Judge, Emily Brown, Marc Halushka, Lili A Barouch
BACKGROUND: The presence of giant ring mitochondria on endomyocardial biopsy is rarely reported and does not have a well-defined differential diagnosis. METHODS: We report the case of a 54-year-old man with heart failure with preserved ejection fraction and left ventricular hypertrophy, initially thought to have an infiltrative cardiomyopathy. RESULTS: The patient was found to have extensive vacuolization caused by the presence of giant ring mitochondria on endomyocardial biopsy...
June 14, 2017: Journal of Cardiac Failure
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