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https://www.readbyqxmd.com/read/29335863/integrative-medicine-on-optimizing-clopidogrel-and-aspirin-therapy
#1
REVIEW
Hui Chen
This article reviews the available published data on optimizing clopidogrel and aspirin therapy using translational and integrative medicine. Translational and evidence-based medical studies show that the CYP2C19 gene mutation (CYP2C19*2 and CYP2C19*3) could affect > 50% of the Chinese population, and that this mutation is closely associated with clopidogrel resistance and an increased risk of major adverse cardiovascular events, particularly stent thrombosis in patients following percutaneous coronary intervention (PCI)...
January 15, 2018: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/29331785/causal-nature-of-neighborhood-deprivation-on-individual-risk-of-coronary-heart-disease-or-ischemic-stroke-a-prospective-national-swedish-co-relative-control-study-in-men-and-women
#2
Per-Ola Forsberg, Henrik Ohlsson, Kristina Sundquist
We studied the association between neighborhood socioeconomic status (SES) and incidence of coronary heart disease (CHD) or ischemic stroke in the total population and in full- and half-siblings to determine whether these associations are causal or a result from familial confounding. Data were retrieved from nationwide Swedish registers containing individual clinical data linked to neighborhood of residence. After adjustment for individual SES, the association between neighborhood SES and CHD showed no decrease with increasing genetic resemblance, particularly in women...
January 10, 2018: Health & Place
https://www.readbyqxmd.com/read/29331631/the-edinburgh-ct-and-genetic-diagnostic-criteria-for-lobar-intracerebral-haemorrhage-associated-with-cerebral-amyloid-angiopathy-model-development-and-diagnostic-test-accuracy-study
#3
Mark A Rodrigues, Neshika Samarasekera, Christine Lerpiniere, Catherine Humphreys, Mark O McCarron, Philip M White, James A R Nicoll, Cathie L M Sudlow, Charlotte Cordonnier, Joanna M Wardlaw, Colin Smith, Rustam Al-Shahi Salman
BACKGROUND: Identification of lobar spontaneous intracerebral haemorrhage associated with cerebral amyloid angiopathy (CAA) is important because it is associated with a higher risk of recurrent intracerebral haemorrhage than arteriolosclerosis-associated intracerebral haemorrhage. We aimed to develop a prediction model for the identification of CAA-associated lobar intracerebral haemorrhage using CT features and genotype. METHODS: We identified adults with first-ever intracerebral haemorrhage diagnosed by CT, who died and underwent research autopsy as part of the Lothian IntraCerebral Haemorrhage, Pathology, Imaging and Neurological Outcome (LINCHPIN) study, a prospective, population-based, inception cohort...
January 10, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#4
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29321517/genome-wide-association-study-of-homocysteine-in-african-americans-from-the-jackson-heart-study-the-multi-ethnic-study-of-atherosclerosis-and-the-coronary-artery-risk-in-young-adults-study
#5
Laura M Raffield, Jaclyn Ellis, Nels C Olson, Qing Duan, Jin Li, Peter Durda, Nathan Pankratz, Brendan J Keating, Christina L Wassel, Mary Cushman, James G Wilson, Myron D Gross, Russell P Tracy, Stephen S Rich, Alex P Reiner, Yun Li, Monte S Willis, Ethan M Lange, Leslie A Lange
Homocysteine (Hcy) is a heritable biomarker for CVD, peripheral artery disease, stroke, and dementia. Little is known about genetic associations with Hcy in individuals of African ancestry. We performed a genome-wide association study for Hcy in 4927 AAs from the Jackson Heart Study (JHS), the Multi-Ethnic Study of Atherosclerosis (MESA), and the Coronary Artery Risk in Young Adults (CARDIA) study. Analyses were stratified by sex and results were meta-analyzed within and across sex. In the sex-combined meta-analysis, we observed genome-wide significant evidence (p < 5...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29318647/realizing-effectiveness-across-continents-with-hydroxyurea-enrollment-and-baseline-characteristics-of-the-multicenter-reach-study-in-sub-saharan-africa
#6
Patrick T McGann, Thomas N Williams, Peter Olupot-Olupot, George A Tomlinson, Adam Lane, José Luís Reis da Fonseca, Robert Kitenge, George Mochamah, Ham Wabwire, Susan Stuber, Thad A Howard, Kathryn McElhinney, Banu Aygun, Teresa Latham, Brígida Santos, Léon Tshilolo, Russell E Ware
Despite its well-described safety and efficacy in the treatment of sickle cell anemia (SCA) in high-income settings, hydroxyurea remains largely unavailable in sub-Saharan Africa, where more than 75% of annual SCA births occur and many comorbidities exist. Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) is a prospective, Phase I/II open-label trial of hydroxyurea designed to evaluate the feasibility, safety, and benefits of hydroxyurea treatment for children with SCA in four sub-Saharan African countries...
January 10, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29318513/targeted-elimination-of-mutant-mitochondrial-dna-in-melas-ipscs-by-mitotalens
#7
Yi Yang, Han Wu, Xiangjin Kang, Yanhui Liang, Ting Lan, Tianjie Li, Tao Tan, Jiangyun Peng, Quanjun Zhang, Geng An, Yali Liu, Qian Yu, Zhenglai Ma, Ying Lian, Boon Seng Soh, Qingfeng Chen, Ping Liu, Yaoyong Chen, Xiaofang Sun, Rong Li, Xiumei Zhen, Ping Liu, Yang Yu, Xiaoping Li, Yong Fan
Mitochondrial diseases are maternally inherited heterogeneous disorders that are primarily caused by mitochondrial DNA (mtDNA) mutations. Depending on the ratio of mutant to wild-type mtDNA, known as heteroplasmy, mitochondrial defects can result in a wide spectrum of clinical manifestations. Mitochondria-targeted endonucleases provide an alternative avenue for treating mitochondrial disorders via targeted destruction of the mutant mtDNA and induction of heteroplasmic shifting. Here, we generated mitochondrial disease patient-specific induced pluripotent stem cells (MiPSCs) that harbored a high proportion of m...
January 9, 2018: Protein & Cell
https://www.readbyqxmd.com/read/29310992/interleukin-1-genotypes-modulate-the-long-term-effect-of-lipoprotein-a-on-cardiovascular-events-the-ioannina-study
#8
Katerina K Naka, Aris Bechlioullis, Aikaterini Marini, Dimitrios Sionis, Konstantinos Vakalis, Georgios Triantis, Leon Wilkins, John Rogus, Kenneth S Kornman, Joseph L Witztum, Lynn Doucette-Stamm, Lampros K Michalis, Sotirios Tsimikas
BACKGROUND: Lipoprotein(a) [Lp(a)] is a genetic risk factor for cardiovascular disease (CVD), and proinflammatory interleukin-1 (IL-1) genotypes may influence Lp(a)-mediated CVD events. The genotype IL-1(+) is associated with higher rates of inflammation than IL-1(-) genotype. Targeting IL-1β was recently shown to decrease CVD events independent of low-density lipoprotein-cholesterol levels. OBJECTIVE: The objective of the study is to assess the modulatory effect of IL-1 genotypes on risk mediated by Lp(a) METHODS: We assessed whether IL-1 genotypes modulate the effect of Lp(a) on major adverse cardiovascular events (cardiovascular death, myocardial infarction, and stroke/transient ischemic attack) and angiographically determined coronary artery disease (CAD)...
December 19, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29306602/alpha-2-antiplasmin-arg407lys-polymorphism-and-cryptogenic-ischemic-cerebrovascular-events-association-with-neurological-deficit
#9
Joanna Wzorek, Marek Karpiński, Ewa Wypasek, Michał Michalski, Andrzej Szczudlik, Krzysztof Piotr Malinowski, Anetta Undas
OBJECTIVE: Genetic background of cryptogenic ischemic stroke (IS) and transient ischemic attack (TIA) remains uncertain. Alpha-2-antiplasmin (α2AP) Arg407Lys polymorphism has been shown to be less common in patients with abdominal aortic aneurysm (AAA) compared with healthy controls. We investigated associations of α2AP Arg407Lys polymorphism with cryptogenic IS and TIA. METHODS: We studied 165 consecutive Caucasian patients who experienced cryptogenic IS (n=123) or TIA (n=42)...
December 26, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29306591/the-frequency-and-risk-factors-for-ischemic-stroke-in-myotonic-dystrophy-type-1-patients
#10
Kosuke Yoshida, Yoko Aburakawa, Yasuhiro Suzuki, Kenji Kuroda, Takashi Kimura
INTRODUCTION: Patients with myotonic dystrophy type 1 have several cardiac abnormalities, especially myocardial conduction disorders. Few studies have investigated cerebral infarction. We investigated the frequency of both symptomatic and asymptomatic ischemic strokes in patients with myotonic dystrophy type 1. METHODS: Patients who were diagnosed with myotonic dystrophy type 1 using genetic testing or clinical examinations at Asahikawa Medical Center were included...
January 3, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29302938/long-term-results-of-aortic-root-surgery-in-marfan-syndrome-patients-a-single-center-experience
#11
Francesco Nicolo, Francesco Romeo, Antonio Lio, Emanuele Bovio, Antonio Scafuri, Carlo Bassano, Patrizio Polisca, Antonio Pellegrino, Paolo Nardi, Luigi Chiariello, Giovanni Ruvolo
BACKGROUND: The study aim was to compare long-term results of Marfan syndrome (MFS) patients affected by aortic root disease undergoing aortic root replacement with the Bentall or David operation. METHODS: Since 1994, a total of 59 patients has been followed at the authors' Marfan Center, having undergone either a Bentall operation (Bentall group, n = 30) or a David operation (David group, n = 29). RESULTS: No operative mortality was recorded...
July 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29302794/evaluation-of-the-neuroprotective-effect-of-sirt3-in-experimental-stroke
#12
Rajkumar Verma, Rodney M Ritzel, Joshua Crapser, Brett D Friedler, Louise D McCullough
Sirtuins (Sirt) are a family of NAD+ dependent histone deacetylase (HDAC) proteins implicated in aging, cell cycle regulation, and metabolism. These proteins are involved in the epigenetic modification of neuromodulatory proteins after strokevia acetylation/deacetylation. The specific role of Sirt3, a mitochondrial sirtuin, in post-stroke injury has been relatively unexplored. Using male Sirt3 knockout (KO) mice and wild-type littermates (WT), we show that Sirt3 KO mice show significant neuroprotection at 3 days after ischemia/reperfusion (I/R) or stroke injury...
January 4, 2018: Translational Stroke Research
https://www.readbyqxmd.com/read/29300776/prevalence-of-relative-systemic-hypertension-in-adults-with-sickle-cell-disease-in-ghana
#13
Amma Benneh-Akwasi Kuma, Amma Twumwa Owusu-Ansah, Mary Akua Ampomah, Fredericka Sey, Edeghonghon Olayemi, Mehdi Nouraie, Solomon Fiifi Ofori-Acquah
Individuals with sickle cell disease particularly with the homozygous (SS) genotype historically have relatively low blood pressure. Nonetheless, they develop vasculopathy-associated organ dysfunction and the risk of organ dysfunction increases at blood pressures that are normal in the general population. This phenomenon is termed relative systemic hypertension (RSH) with a systolic blood pressure range of 120-139 mmHg, and diastolic blood pressure range of 70-89 mmHg. The significance of RSH lies in its association with renal insufficiency, pulmonary hypertension, stroke and propensity to progress to systemic hypertension...
2018: PloS One
https://www.readbyqxmd.com/read/29300374/clinical-history-and-management-recommendations-of-the-smooth-muscle-dysfunction-syndrome-due-to-acta2-arginine-179-alterations
#14
Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, Cori Feist, Kathryn W Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A Morris, Anna L Mitchell, John R Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M Milewicz
PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29298609/interferon-%C3%AE-promotes-neuronal-repair-by-transplanted-neural-stem-cells-in-ischemic-rats
#15
Guilong Zhang, Xiaoyuan Guo, Lukui Chen, Bingqian Li, Bin Gu, Hong Wang, Guojian Wu, Jun Kong, Wanghao Chen, Yongbo Yu
Ischemic stroke represents the leading cause of adult neurological disability, with no effective therapeutic strategy. Stem cell transplantation promises a new promising for treating stroke, via cell replacement and cytokines paracrine. However, due to the effect of hostile immune microenvironment, the survival and differentiation of stem cells is limited in vivo. Furthermore, the delayed inflammatory response to stroke induced secondary neurological injury. IFN-γ as pro-inflammatory cytokine has the potential to protect stem cell population during inflammatory response, as well stimulates neurogenesis of stem cells...
January 3, 2018: Stem Cells and Development
https://www.readbyqxmd.com/read/29298459/embolisation-for-pulmonary-arteriovenous-malformation
#16
REVIEW
Charlie C-T Hsu, Gigi Nc Kwan, Hannah Evans-Barns, Mieke L van Driel
BACKGROUND: Pulmonary arteriovenous malformations are abnormal direct connections between the pulmonary artery and pulmonary vein which result in a right-to-left shunt. They are associated with substantial morbidity and mortality mainly from the effects of paradoxical emboli. Potential complications include stroke, cerebral abscess, pulmonary haemorrhage and hypoxaemia. Embolisation is an endovascular intervention based on the occlusion of the feeding arteries the pulmonary arteriovenous malformations thus eliminating the abnormal right-to-left-shunting...
January 4, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29298116/somatic-activating-kras-mutations-in-arteriovenous-malformations-of-the-brain
#17
Sergey I Nikolaev, Sandra Vetiska, Ximena Bonilla, Emilie Boudreau, Suvi Jauhiainen, Behnam Rezai Jahromi, Nadiya Khyzha, Peter V DiStefano, Santeri Suutarinen, Tim-Rasmus Kiehl, Vitor Mendes Pereira, Alexander M Herman, Timo Krings, Hugo Andrade-Barazarte, Takyee Tung, Taufik Valiante, Gelareh Zadeh, Mike Tymianski, Tuomas Rauramaa, Seppo Ylä-Herttuala, Joshua D Wythe, Stylianos E Antonarakis, Juhana Frösen, Jason E Fish, Ivan Radovanovic
BACKGROUND: Sporadic arteriovenous malformations of the brain, which are morphologically abnormal connections between arteries and veins in the brain vasculature, are a leading cause of hemorrhagic stroke in young adults and children. The genetic cause of this rare focal disorder is unknown. METHODS: We analyzed tissue and blood samples from patients with arteriovenous malformations of the brain to detect somatic mutations. We performed exome DNA sequencing of tissue samples of arteriovenous malformations of the brain from 26 patients in the main study group and of paired blood samples from 17 of those patients...
January 18, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29296197/lack-of-association-between-the-aplnr-variant-rs9943582-with-ischemic-stroke-in-the-chinese-han-geneid-population
#18
Pengyun Wang, Chuchu Wang, Sisi Li, Binbin Wang, Liang Xiong, Xin Tu, Qing K Wang, Cheng-Qi Xu
Stroke is one of the most common causes of death worldwide. Genetic risk factors have been found to play important roles in the pathology of ischemic stroke. In a previous genome-wide association study, a functional variant (rs9943582, -154G/A) in the 5' flanking region of the apelin receptor gene (APLNR) was shown to be significantly associated with stroke in the Japanese population. However, the association required validation in other ethnicities. To validate the genetic relationship between APLNR and ischemic stroke in the Chinese Han population, we genotyped rs9943582 in a case-control population containing 1,158 ischemic stroke patients and 1,265 common controls enrolled from the GeneID database, and performed a genetic association study...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290336/genome-wide-study-of-atrial-fibrillation-identifies-seven-risk-loci-and-highlights-biological-pathways-and-regulatory-elements-involved-in-cardiac-development
#19
Jonas B Nielsen, Lars G Fritsche, Wei Zhou, Tanya M Teslovich, Oddgeir L Holmen, Stefan Gustafsson, Maiken E Gabrielsen, Ellen M Schmidt, Robin Beaumont, Brooke N Wolford, Maoxuan Lin, Chad M Brummett, Michael H Preuss, Lena Refsgaard, Erwin P Bottinger, Sarah E Graham, Ida Surakka, Yunhan Chu, Anne Heidi Skogholt, Håvard Dalen, Alan P Boyle, Hakan Oral, Todd J Herron, Jacob Kitzman, José Jalife, Jesper H Svendsen, Morten S Olesen, Inger Njølstad, Maja-Lisa Løchen, Aris Baras, Omri Gottesman, Anthony Marcketta, Colm O'Dushlaine, Marylyn D Ritchie, Tom Wilsgaard, Ruth J F Loos, Timothy M Frayling, Michael Boehnke, Erik Ingelsson, David J Carey, Frederick E Dewey, Hyun M Kang, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer
Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29273593/novel-susceptibility-loci-for-moyamoya-disease-revealed-by-a-genome-wide-association-study
#20
Lian Duan, Ling Wei, Yanghua Tian, Zhengshan Zhang, Panpan Hu, Qiang Wei, Sugang Liu, Jun Zhang, Yuyang Wang, Desheng Li, Weizhong Yang, Rui Zong, Peng Xian, Cong Han, Xiangyang Bao, Feng Zhao, Jie Feng, Wei Liu, Wuchun Cao, Guoping Zhou, Chunyan Zhu, Fengqiong Yu, Weimin Yang, Yu Meng, Jingye Wang, Xianwen Chen, Yu Wang, Bing Shen, Bing Zhao, Jinghai Wan, Fengyu Zhang, Gang Zhao, Aimin Xu, Xuejun Zhang, Jianjun Liu, Xianbo Zuo, Kai Wang
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by bilateral internal carotid artery stenosis and often leads to stroke in children or young adults. Although familial inheritance is well recognized, the genetic basis of MMD remains poorly understood. METHODS: A 2-stage genome-wide association study was conducted involving 1492 cases and 5084 controls. In the discovery stage, logistic regression was used to test associations, and imputation was conducted based on genotyped single-nucleotide polymorphisms (SNPs)...
January 2018: Stroke; a Journal of Cerebral Circulation
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