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https://www.readbyqxmd.com/read/28628911/a-carasil-patient-from-americas-with-novel-mutation-and-atypical-features-case-presentation-and-literature-review
#1
Muhammad Ibrahimi, Hiroaki Nozaki, Angelica Lee, Osamu Onodera, Raymond Reichwein, Matthew Wicklund, Mohammad El-Ghanem
OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes...
June 21, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28628592/genetic-variation-and-neuroplasticity-role-in-rehabilitation-after-stroke
#2
Jill Campbell Stewart, Steven C Cramer
BACKGROUND AND PURPOSE: In many neurologic diagnoses, significant interindividual variability exists in the outcomes of rehabilitation. One factor that may impact response to rehabilitation interventions is genetic variation. Genetic variation refers to the presence of differences in the DNA sequence among individuals in a population. Genetic polymorphisms are variations that occur relatively commonly and, while not disease-causing, can impact the function of biological systems. The purpose of this article is to describe genetic polymorphisms that may impact neuroplasticity, motor learning, and recovery after stroke...
July 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/28625324/esr2-genetic-variants-and-combined-oral-contraceptive-use-associated-with-the-risk-of-stroke
#3
Zhenlin Xu, Ying Li, Xiaoping Huang, Wei Shen, Jianling Bai, Chong Shen, Yang Zhao
BACKGROUND AND AIM: There is accumulating evidence suggesting an important role of estrogen receptor-β in the development of cardiovascular disease. The present study aims to investigate the relationship of estrogen receptor β gene (ESR2) polymorphisms with stroke risk in Chinese women, and further evaluate the gene-environment interaction of ESR2 and combined oral contraceptive (COC) use on stroke risk. METHODS: A case-control study was conducted with 446 first-ever stroke patients and 864 control subjects recruited from our prospective female cohort...
February 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28623937/the-association-of-lipid-metabolism-relative-gene-polymorphisms-and-ischemic-stroke-in-han-and-uighur-population-of-xinjiang
#4
Yun-Hua Yue, Ling-Yun Liu, Liang Hu, You-Mei Li, Jie-Ping Mao, Xiao-Ying Yang, Na-Mu Dila
BACKGROUND: The present study is aimed to evaluate difference of lipid metabolism related gene single nucleotide polymorphisms (SNPs) with ischemic stroke (IS) in Han and Uighur population of Xinjiang, China. METHODS: Four hundred eight patients with ischemic stroke and 347 unrelated healthy individuals of age and sex matched were genotyped for Apolipoprotein A5 (ApoA5), lipoprotein lipase (LPL), Cholesteryl ester transfer protein (CETP) and low-density lipoprotein receptor (LDL-R) genes...
June 17, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28622698/interactions-between-acyp2-genetic-polymorphisms-and-environment-factors-with-susceptibility-to-ischemic-stroke-in-a-han-chinese-population
#5
Qiong Cheng, Yong-Kun Li, Feng Lu, Lianhua Yin, Yin-Zhou Wang, Wen Wei, Qian Lin
AIMS: To investigate the association of several single nucleotide polymorphisms (SNPs) within ACYP2 gene and additional gene- environment interaction with ischemic stroke (IS) risk in a Chinese population. RESULTS: IS risk was significantly higher in carriers with the G allele of rs11896604 than those with CC genotype (CG or GG versus CC), adjusted OR (95%CI) =1.60 (1.18-2.20), and higher in carriers with the A allele of rs12615793 than those with GG genotype (GA or AA versus GG), adjusted OR (95%CI) = 1...
June 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620551/mitochondrial-cardiomyopathy-presenting-as-dilated-phase-of-hypertrophic-cardiomyopathy-diagnosed-with-histological-and-genetic-analyses
#6
Toshiki Kuno, Syohei Imaeda, Yohei Asakawa, Hiroshi Nakamura, Genzou Takemura, Daisuke Asahara, Akira Kanamori, Tomoyuki Kabutoya, Yohei Numasawa
We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-(123)I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in diagnosing mitochondrial cardiomyopathy. Muscle biopsy was also compatible with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and DNA analysis also concluded it...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28614786/association-of-mir-146a-mir-149-mir-196a2-mir-499-gene-polymorphisms-with-ischemic-stroke-in-a-chinese-people
#7
Hong-Cheng Luo, Qi-Sheng Luo, Chun-Fang Wang, Ming Lei, Bei-Lin Li, Ye-Sheng Wei
This study aimed to investigate genetic polymorphisms of miR-146a, miR-149, miR-196a2, and miR-499 and genetic susceptibility of ischemic stroke in the population of Guangxi in China. A case-control study was used to investigate miRNAs genetic polymorphisms in 298 patients with ischemic stroke and 303 healthy controls. Single-base extension polymerase chain reaction genotyping principle was used to detect genetic polymorphisms of miRNAs,and the relationship of genotype in each group and blood lipid was compared and analyzed...
June 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28611085/ccr6-cc-chemokine-receptor-6-is-essential-for-the-migration-of-detrimental-natural-interleukin-17-producing-%C3%AE-%C3%AE-t-cells-in-stroke
#8
Priyadharshini Arunachalam, Peter Ludewig, Patrick Melich, Thiruma Valavan Arumugam, Christian Gerloff, Immo Prinz, Tim Magnus, Mathias Gelderblom
BACKGROUND AND PURPOSE: Immune-mediated tissue damage after stroke evolves within the first days, and lymphocytes contribute to the secondary injury. Our goal was to identify T-cell subpopulations, which trigger the immune response. METHODS: In a model of experimental stroke, we analyzed the immune phenotype of interleukin-17 (IL-17)-producing γδ T cells and explored the therapeutic potential of neutralizing anti-IL-17 antibodies in combination with mild therapeutic hypothermia...
June 13, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28608522/lipoprotein-a-a-missing-culprit-in-the-management-of-athero-thrombosis
#9
REVIEW
Gianna Ferretti, Tiziana Bacchetti, Thomas P Johnston, Maciej Banach, Matteo Pirro, Amirhossein Sahebkar
Lipoprotein(a) Lp(a) is a cholesterol-rich, LDL-like particle that is independently associated with an increased risk for ischemic heart disease, atherosclerosis, thrombosis, and stroke. Genetic variation in the Lp(a) locus and some other genes related to Lp(a) synthesis and metabolism play a critical role in regulating plasma Lp(a) levels. The pathophysiological potential of Lp(a) is related to proatherogenic and prothrombotic effects on the vasculature. Different molecular mechanisms underlying the atherothrombotic potential of Lp(a), free apolipoprotein(a), and oxidized-Lp(a) have been proposed...
June 13, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28607169/cdc25a-is-a-critical-mediator-of-ischemic-neuronal-death-in-vitro-and-in-vivo
#10
Grace O Iyirhiaro, Doo Soon Im, Wassamon Boonying, Steve M Callaghan, Matthew J During, Ruth S Slack, David S Park
Dysregulation of cell cycle machinery is implicated in a number of neuronal death contexts, including stroke. Increasing evidence suggests that cyclin-dependent kinases (Cdks) are inappropriately activated in mature neurons under ischemic stress conditions. We previously demonstrated a functional role for cyclin D1/Cdk4/pRb pathway in delayed neuronal death induced by ischemia. However, the molecular signal(s) leading to cyclin D/Cdk4/pRb activation following ischemic insult is presently not clear. Here, we investigate the cell division cycle 25 (Cdc25) dual specificity phosphatases as potential upstream regulators of ischemic neuronal death and Cdk4 activation...
June 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28606676/burden-and-impact-of-congenital-syndromes-and-comorbidities-among-adults-with-congenital-heart-disease
#11
Isabelle Bracher, Maria Padrutt, Francesca Bonassin, Bruno Santos Lopes, Christiane Gruner, Simon F Stämpfli, Angela Oxenius, Gabriella De Pasquale, Theresa Seeliger, Thomas F Lüscher, Christine Attenhofer Jost, Matthias Greutmann
BACKGROUND: Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. METHODS: Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed...
August 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28597404/relevance-of-microrna-21-in-different-types-of-hypertension
#12
REVIEW
Durairaj Sekar, B R Shilpa, Anupam J Das
Hypertension (HTN) is a chronic medical condition that commonly affects the aging population worldwide. The prevalence of HTN is increasing in developing countries and is one of the leading causes of death in older individuals. HTN results from a complex interplay of genetic and environmental factors. Besides, HTN can result in various other health complications such as stroke and chronic kidney diseases, if not treated. Although various studies have explained the underlying mechanisms in the pathogenesis of HTN, limited information is available on their biomarkers...
July 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28596458/prevalence-of-fabry-disease-and-outcomes-in-young-canadian-patients-with-cryptogenic-ischemic-cerebrovascular-events
#13
Sylvain Lanthier, Gustavo Saposnik, Gerald Lebovic, Karen Pope, Daniel Selchen, David F Moore
BACKGROUND AND PURPOSE: Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA). METHODS: We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. α-galactosidase-A gene was sequenced for Fabry diagnosis...
June 8, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28583195/effects-of-phosphodiesterase-3a-modulation-on-murine-cerebral-microhemorrhages
#14
Rachita K Sumbria, Vitaly Vasilevko, Mher Mahoney Grigoryan, Annlia Paganini-Hill, Ronald Kim, David H Cribbs, Mark J Fisher
BACKGROUND: Cerebral microbleeds (CMB) are MRI-demonstrable cerebral microhemorrhages (CMH) which commonly coexist with ischemic stroke. This creates a challenging therapeutic milieu, and a strategy that simultaneously protects the vessel wall and provides anti-thrombotic activity is an attractive potential approach. Phosphodiesterase 3A (PDE3A) inhibition is known to provide cerebral vessel wall protection combined with anti-thrombotic effects. As an initial step in the development of a therapy that simultaneously treats CMB and ischemic stroke, we hypothesized that inhibition of the PDE3A pathway is protective against CMH development...
June 5, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28582318/recent-advances-in-childhood-vasculitis
#15
Seza Ozen, Nazire Pinar Acar-Ozen
PURPOSE OF REVIEW: The review aims to summarize the recent findings in vasculitis that may have an impact in our understanding or management of these diseases. RECENT FINDINGS: We are learning more about monogenic diseases that closely mimic the pediatric vasculitides. Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy...
June 2, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28577991/inhibition-of-na-k-2cl-cotransporter-attenuates-blood-brain-barrier-disruption-in-a-mouse-model-of-traumatic-brain-injury
#16
Jun Zhang, Hongjian Pu, Haiyue Zhang, Zhishuo Wei, Xiaoyan Jiang, Mingyue Xu, Lili Zhang, Wenting Zhang, Jialin Liu, Hengxing Meng, R Anne Stetler, Dandan Sun, Jun Chen, Yanqin Gao, Ling Chen
Traumatic brain injury (TBI) can lead to long-term motor and cognitive dysfunction, which can be at least partly attributed to blood-brain barrier (BBB) disruption. The mechanisms underlying post-TBI BBB disruption, however, are poorly understood thus far. Na(+)-K(+)-2Cl(-) cotransporter isoform 1 (NKCC1) is a universally expressed ion transporter that maintains intracellular ion homeostasis by increasing intracellular K(+) and Cl(-). Having been characterized in stroke models, NKCC1 is activated in various cell types in the ischemic brain, and is thought to mediate BBB disruption, brain edema, and neuronal cell death...
May 31, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28576652/platelet-function-testing-in-patients-with-acute-ischemic-stroke-an-observational-study
#17
Francesca Rosafio, Nicoletta Lelli, Stefano Mimmi, Laura Vandelli, Guido Bigliardi, Maria Luisa Dell'Acqua, Livio Picchetto, Roberta Pentore, Diana Ferraro, Tommaso Trenti, Paolo Nichelli, Andrea Zini
BACKGROUND: The measurement of platelet reactivity in patients with stroke undergoing antiplatelet therapies is not commonly performed in clinical practice. We assessed the prevalence of therapy responsiveness in patients with stroke and further investigated differences between patients on prevention therapy at stroke onset and patients naive to antiplatelet medications. We also sought differences in responsiveness between etiological subtypes and correlations between Clopidogrel responsiveness and genetic polymorphisms...
May 30, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28575878/kidney-calculi-pathophysiology-and-as-a-systemic-disorder
#18
Arash Shadman, Bahar Bastani
The pathophysiology of urinary stone formation is complex, involving a combination of metabolic, genetic, and environmental factors. Over the past decades, remarkable advances have been emerged in the understanding of the pathogenesis, diagnosis, and treatment of calcium kidney calculi. For this review, both original and review articles were found via PubMed search on pathophysiology, diagnosis, and management of urinary calculi. These resources were integrated with the authors' knowledge of the field. Nephrolithiasis is suggested to be associated with systemic disorders, including chronic kidney insufficiency, hematologic malignancies, endocrine disorders, autoimmune diseases, inflammatory bowel diseases, bone loss and fractures, hypertension, type 2 diabetes mellitus, metabolic syndrome, and vascular diseases like coronary heart diseases and most recently ischemic strokes...
May 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28575299/mortality-in-children-receiving-growth-hormone-treatment-for-growth-disorders-data-from-the-genesis-observational-program
#19
Charmian A Quigley, Christopher J Child, Alan G Zimmermann, Ron G Rosenfeld, Leslie L Robison, Werner F Blum
Context: Although pediatric GH treatment is generally considered safe for approved indications, there have been long-held concerns regarding potential for increased risk of neoplasia and, more recently, of stroke and mortality in adults treated with GH during childhood. Objective: To assess mortality in children receiving GH. Design: Prospective, multi-national, observational study. Setting: Genetics and Neuroendocrinology of Short-stature International Study (GeNeSIS)...
May 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28566152/sonographic-evaluation-of-atherosclerosis-burden-in-carotid-arteries-of-ischemic-stroke-patients-and-its-relation-to-paraoxonase-1-and-2-mthfr-and-at1r-genetic-variants
#20
Carmen Rosa Hernández-Socorro, Francisco Javier Rodríguez-Esparragón, Jennifer Celli, Juan Carlos López-Fernández
OBJECTIVE: Common variants of the Paraoxonase (PON), 5-Methyl-Tetrahydrofolate-Reductase (MTHFR) and Angiotensin-II receptor 1 (AT1R) genes have been associated with ischemic stroke (IS) risk. Moreover, carotid atherosclerosis is a common cause of IS. The aim of this study is to explore whether variants in these genes associate with the severity of ultrasonographic determined atherosclerosis assessed in carotid arteries. PATIENTS AND METHODS: Etiologic subtype of cerebral ischemia was determined according to the TOAST classification...
July 15, 2017: Journal of the Neurological Sciences
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