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https://www.readbyqxmd.com/read/27905385/-a-role-of-genetic-factors-and-related-disorder-of-the-folate-cycle-in-ischemic-stroke
#1
V M Shklovsky, I P Lukashevich, A Yu Remennik, S M Gerasimova, G S Selishchev, D I Malin, V V Valyaeva
AIM: To study a role of MTHFR mutations and their associations with the disturbances of basic parameters of the folate cycle in the development of ischemic stroke (IS). MATERIAL AND METHODS: Fifty-one post-stroke patients, 26 women and 25 men, aged from 29 to 87 years, were included in the study. The control group consisted of 47 healthy people, 23 women and 24 men, aged from 30 to 83 years. MTHFR: rs1801131 and rs1801133 polymorphisms were genotyped. Contents of folate, B12 and homocysteine were measured...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27904035/reduced-production-of-hydrogen-sulfide-and-sulfane-sulfur-due-to-low-cystathionine-%C3%AE-synthase-levels-in-brain-astrocytes-of-stroke-prone-spontaneously-hypertensive-rats
#2
Sachiko Juman, Yasuo Nara, Naomi Yasui, Hiroko Negishi, Hiroto Okuda, Nichika Takado, Tomohiro Miki
Stroke-prone spontaneously hypertensive rats (SHRSP/Izm; SHRSP) develop severe hypertension and die of cerebral stroke. However, the genetic mechanisms underlying their stroke susceptibility have not been clarified yet. In this study, we used astrocytes from the newborn brain cortex of spontaneously hypertensive rats (SHR/Izm; SHR) and SHRSP to find the difference of genetic characteristics. Astrocytes are known to have functions of vasodilation and nutrient uptake for neurons in the brain. The continuous generation of hydrogen peroxide (H2O2) dose-dependently causes cell death in astrocytes, and SHRSP was more vulnerable than SHR...
2016: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27901252/polymorphism-of-the-complement-5-gene-is-associated-with-large-artery-atherosclerosis-stroke-in-chinese-patients
#3
Hui Wu, Yingfeng Weng, Lan Zheng, Huanyin Li, Qi Gong, Yi Fu, Jing Zhao
Methods: C5 rs17611 genetic variants were investigated in 494 IS patients and 330 control individuals .Ischemic stroke was classified into subtypes and patients were assessed 90 days post-stroke with the modified Rankin Scale to determine stroke outcome. Results: The presence of C5 polymorphism was associated with the incidence of large artery atherosclerosis (LAA)-subtype IS (n =2 00; p = 0.031), which even persisted after adjustment for covariates (OR = 1.518; 95%CI = 1...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27899748/cannabinoid-type-2-receptor-drives-neurogenesis-and-improves-functional-outcome-after-stroke
#4
Isabel Bravo-Ferrer, María I Cuartero, Juan G Zarruk, Jesús M Pradillo, Olivia Hurtado, Víctor G Romera, Javier Díaz-Alonso, Juan M García-Segura, Manuel Guzmán, Ignacio Lizasoain, Ismael Galve-Roperh, María A Moro
BACKGROUND AND PURPOSE: Stroke is a leading cause of adult disability characterized by physical, cognitive, and emotional disturbances. Unfortunately, pharmacological options are scarce. The cannabinoid type-2 receptor (CB2R) is neuroprotective in acute experimental stroke by anti-inflammatory mechanisms. However, its role in chronic stroke is still unknown. METHODS: Stroke was induced by permanent middle cerebral artery occlusion in mice; CB2R modulation was assessed by administering the CB2R agonist JWH133 ((6aR,10aR)-3-(1,1-dimethylbutyl)-6a,7,10,10a-tetrahydro-6,6,9-trimethyl-6H-dibenzo[b,d]pyran) or the CB2R antagonist SR144528 (N-[(1S)-endo-1,3,3-trimethylbicyclo-[2...
November 29, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27898523/role-of-corin-in-the-regulation-of-blood-pressure
#5
Hui Li, Yue Zhang, Qingyu Wu
PURPOSE OF REVIEW: Corin is a transmembrane protease that activates atrial natriuretic peptide (ANP), an important hormone in regulating salt-water balance and blood pressure. This review focuses on the regulation of corin function and potential roles of corin defects in hypertensive, heart, and renal diseases. RECENT FINDINGS: Proprotein convertase subtilisin/kexin-6 has been identified as a primary enzyme that converts zymogen corin to an active protease. Genetic variants that impair corin intracellular trafficking, cell surface expression, and zymogen activation have been found in patients with hypertension, cardiac hypertrophy, and pre-eclampsia...
November 24, 2016: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/27896131/case-report-5%C3%A2-year-follow-up-of-adult-late-onset-mitochondrial-encephalomyopathy-with-lactic-acid-and-stroke-like-episodes-melas
#6
Kiri Sunde, Patrick R Blackburn, Anvir Cheema, Jennifer Gass, Jessica Jackson, Sarah Macklin, Paldeep S Atwal
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A > G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27895449/cadasil-presenting-with-spontaneous-intracerebral-hemorrhage-report-of-a-case-and-description-of-the-first-family-in-northern-greece
#7
I Koutroulou, T Karapanayiotides, N Grigoriadis, D Karacostas
INTRODUCTION: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), the most common inherited cause of stroke and dementia in adults, has been described in six Greek families. Common presenting manifestations include migraine with aura, brain ischemia, mood disorders and cognitive decline. Spontaneous intracerebral hemorrhage (SICH) rarely occurs in CADASIL and only exceptionally as the first clinical manifestation. CASE DESCRIPTION: We have previously reported the sixth Greek family with CADASIL and in particular, two brothers in whom the genetic testing documented a classic mutation of the NOTCH3 gene (Arg169Cys)...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27895004/predictors-of-vascular-cognitive-impairment-poststroke-in-a-middle-eastern-bahrain-cohort-a-proposed-case-control-comparison
#8
Claire Donnellan, Mona Al Banna, Noor Redha, Adel Al Jishi, Isa Al Sharoqi, Safa Taha, Moiz Bakhiet, Fatema Abdulla, Patrick Walsh
BACKGROUND: Poststroke dementia and cognitive impairment are associated with poor long-term outcomes after stroke. The contribution of genetic factors such as the presence of apolipoprotein (ApoE) ɛ4 allele and its association with cognitive impairment poststroke remains inconclusive, particularly in Middle Eastern regions. OBJECTIVE: The aim of this study is to examine all correlates and potential predictors of cognitive impairment including self-awareness and regulation deficits in stroke patients and compare these functions with healthy older adults from a Middle Eastern population...
November 28, 2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/27888760/relationship-between-selected-dna-polymorphisms-and-coronary-artery-disease-complications
#9
Marcin Wirtwein, Olle Melander, Marketa Sjőgren, Michal Hoffmann, Krzysztof Narkiewicz, Marcin Gruchala, Wojciech Sobiczewski
BACKGROUND: Coronary heart disease (CHD) development is complex in origin, with contributions from well-defined lifestyle and not well-determined genetic risk factors. The aim of this study is to report the relationship between certain SNPs and the risk of cardiovascular (CV) complications in patients with CAD confirmed by coronary angiography. METHODS: In the present study, 1345 subjects with CHD were included. The median follow-up period was 8.6years. 19 SNPs were investigated for any association with Major Advanced CV Events (MACE), Acute Coronary Syndromes (ACS) and Revascularizations...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27888580/biology-of-vo2-max-looking-under-the-physiology-lamp
#10
REVIEW
C Lundby, D Montero, M Joyner
In this review, we argue that several key features of maximal oxygen uptake (VO2 max) should underpin discussions about the biological and reductionist determinants of its interindividual variability: (i) training-induced increases in VO2 max are largely facilitated by expansion of red blood cell volume and an associated improvement in stroke volume, which also adapts independent of changes in red blood cell volume. These general concepts are also informed by cross-sectional studies in athletes that have very high values for VO2 max...
November 7, 2016: Acta Physiologica
https://www.readbyqxmd.com/read/27882227/g2691a-and-c2491t-mutations-of-factor-v-gene-and-pre-disposition-to-myocardial-infarction-in-morocco
#11
Wiam Hmimech, Brehima Diakite, Hind Hassani Idrissi, Khalil Hamzi, Farah Korchi, Dalila Baghdadi, Rachida Habbal, Sellama Nadifi
Coagulation factor Leiden mutation has been described as a common genetic risk factor for venous thrombosis; however, this mutation was reported to be practically absent in an African population. Recently, a novel non-sense mutation in the gene encoding factor V has been associated with the risk of occurrence of cardio-cerebrovascular diseases such as stroke and venous thrombosis. The aim of the present study was to investigate whether the factor V Leiden (FVL) and C2491T non-sense mutations are associated with the risk of developing myocardial infarction...
November 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27881558/the-american-heart-association-s-new-institute-for%C3%A2-precision-cardiovascular-medicine
#12
Steven R Houser
"One size does not fit all." These 6 simple words represent the fundamental concept driving an unprecedented initiative of the American Heart Association, the Institute for Precision Cardiovascular Medicine. In the field of heart disease and stroke research, we have seen enormous knowledge advances in recent decades, all of which have led to breakthroughs in our ability to treat and prevent these illnesses. We celebrate these advances because they are allowing us to save and improve more lives than ever before...
November 22, 2016: Circulation
https://www.readbyqxmd.com/read/27881526/towards-the-genetic-basis-of-cerebral-venous-thrombosis-the-beast-consortium-a-study-protocol
#13
Ioana Cotlarciuc, Thomas Marjot, Muhammad S Khan, Sini Hiltunen, Elena Haapaniemi, Tiina M Metso, Jukka Putaala, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Paolo Bucciarelli, Emanuela Pappalardo, Tasmin Patel, Paolo Costa, Marina Colombi, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Maurizio Margaglione, Giovanni Favuzzi, Elvira Grandone, Donatella Colaizzo, Kostas Spengos, Antonio Arauz, Amanda Hodge, Reina Ditta, Stephanie Debette, Marialuisa Zedde, Guillaume Pare, José M Ferro, Vincent Thijs, Alessandro Pezzini, Jennifer J Majersik, Ida Martinelli, Jonathan M Coutinho, Turgut Tatlisumak, Pankaj Sharma
INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations...
November 22, 2016: BMJ Open
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#14
Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with familial hemiplegic migraine and several ataxia disorders as well as the location of the currently identified causative mutations...
November 24, 2016: Human Genomics
https://www.readbyqxmd.com/read/27874938/rank-rankl-opg-pathway-genetic-association-with-history-of-ischemic-stroke-in-italian-population
#15
F Biscetti, S Giovannini, G Straface, F Bertucci, F Angelini, C Porreca, R Landolfi, A Flex
OBJECTIVE: RANKL is a member of the TNF superfamily that stimulates chemokine release, monocyte/macrophage matrix migration and matrix metalloproteinase activity and plays an important role in atherosclerosis. In our study, we have evaluated whether RANKL gene polymorphisms are involved in ischemic stroke in Italian subjects. PATIENTS AND METHODS: In a retrospective study we have included 487 patients (242 males, 245 females) with history of ischemic stroke and 543 control subjects without history of ischemic stroke (277 males, 276 females)...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27871494/current-surgical-management-of-carotid-body-tumors
#16
Victor J Davila, James M Chang, William M Stone, Richard J Fowl, Thomas C Bower, Michael L Hinni, Samuel R Money
BACKGROUND: Carotid body tumors (CBTs) are rare. Management guidelines may include genetic testing for succinate dehydrogenase (SDH) mutations. We performed an institutional review of the surgical management of CBT. METHODS: A retrospective analysis (1994-2015) of CBT excisions at our institution was performed. Data obtained included demographics, genetic testing (if performed), intraoperative details, postoperative morbidity, and long-term outcomes. Data from the first CBT excision were included in patients with bilateral tumors...
December 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27870410/sex-differences-in-neuroinflammation-and-neuroprotection-in-ischemic-stroke
#17
REVIEW
Monica S Spychala, Pedram Honarpisheh, Louise D McCullough
Stroke is not only a leading cause of mortality and morbidity worldwide it also disproportionally affects women. There are currently over 500,000 more women stroke survivors in the US than men, and elderly women bear the brunt of stroke-related disability. Stroke has dropped to the fifth leading cause of death in men, but remains the third in women. This review discusses sex differences in common stroke risk factors, the efficacy of stroke prevention therapies, acute treatment responses, and post-stroke recovery in clinical populations...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27866207/post-stroke-fatigue-may-be-associated-with-the-promoter-region-of-a-monoamine-oxidase-a-gene-polymorphism
#18
Smi Choi-Kwon, Mihye Ko, Sang-Eun Jun, Juhan Kim, Kyung-Hee Cho, Hyun-Wook Nah, Hasup Song, Jong S Kim
BACKGROUND: Post-stroke fatigue (PSF) is a common sequela of stroke. Despite reports of serotonergic involvement in the etiology of PSF, the potential contribution of serotonergic genes in the development of PSF needs to be investigated. METHODS: A total of 373 patients, who experienced ischemic stroke for PSF, were evaluated 3 months after the stroke. PSF was assessed using the Fatigue Severity Scale. The genomic DNA collected and stored in a -70°C freezer was genotyped for 6 polymorphisms in genes associated with serotonin synthesis (tryptophan hydroxylase 1 (TPH1) A218C, TPH2 rs10879355, and TPH2 rs4641528), transport (the promoter region of the serotonin transporter protein), and catabolism (the 30-bp functional variable number tandem repeat) polymorphism in the promoter region of monoamine oxidase A (MAO-A)...
November 19, 2016: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/27864402/molecular-genetic-contributions-to-self-rated-health
#19
Sarah E Harris, Saskia P Hagenaars, Gail Davies, W David Hill, David C M Liewald, Stuart J Ritchie, Riccardo E Marioni, Cathie L M Sudlow, Joanna M Wardlaw, Andrew M McIntosh, Catharine R Gale, Ian J Deary
BACKGROUND: Poorer self-rated health (SRH) predicts worse health outcomes, even when adjusted for objective measures of disease at time of rating. Twin studies indicate SRH has a heritability of up to 60% and that its genetic architecture may overlap with that of personality and cognition. METHODS: We carried out a genome-wide association study (GWAS) of SRH on 111 749 members of the UK Biobank sample. Univariate genome-wide complex trait analysis (GCTA)-GREML analyses were used to estimate the proportion of variance explained by all common autosomal single nucleotide polymorphisms (SNPs) for SRH...
November 17, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27864383/use-of-pharmacogenetic-information-in-the-treatment-of-cardiovascular-disease
#20
REVIEW
Kevin Friede, Josephine Li, Deepak Voora
BACKGROUND: In 1964, Robert A. O'Reilly's research group identified members of a family who required remarkably high warfarin doses (up to 145 mg/day, 20 times the average dose) to achieve appropriate anticoagulation. Since this time, pharmacogenetics has become a mainstay of cardiovascular science, and genetic variants have been implicated in several fundamental classes of medications used in cardiovascular medicine. CONTENT: In this review, we discuss genetic variants that affect drug response to 3 classes of cardiovascular drugs: statins, platelet P2Y12 inhibitors, and anticoagulants...
November 18, 2016: Clinical Chemistry
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