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venous thrombosis genetics

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https://www.readbyqxmd.com/read/28810573/warfarin-induced-life-threatening-bleeding-associated-with-a-cyp3a4-loss-of-function-mutation-in-an-acute-limb-ischemia-patient-case-report-and-review-of-the-literature
#1
Xiao-Wei Ma, Chang-Ning Hao, Zhi-Chun Gu, Meng Ye, Min Li, Lan Zhang
Patients with acute limb ischemia, deep venous thrombosis and pulmonary artery embolism may be treated with warfarin. The dose-response interaction of warfarin is associated with numerous factors, depending on which an uncommon life-threatening bleeding may occur. The present case study reported on a patient with acute limb ischemia and a history of warfarin-induced bleeding ten years previously and who again developed life threatening bleeding associated with warfarin treatment and received vascular surgery...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#2
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28781853/unexpected-papilledema-in-a-young-male-with-type-1-diabetes
#3
Juan A Paniagua, Rodrigo Bahamondes, Antonio Cano-Sánchez, Francisco Velasco
In young patients with T1D, neurological manifestations of cerebral hypertension should suggest the possibility of a cerebral venous sinus thrombosis (CVST). In these patients an inherited prothrombotic risk factor, including factor V Leiden G1691A gene mutation, should be considered during an event of thrombosis. Improving the glycemic control is the first factor that should be controlled in a patient who carries a genetic prothrombotic risk factor. Anticoagulant treatment should be started as son as CVST has been diagnosed...
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28750087/risk-prediction-of-developing-venous-thrombosis-in-combined-oral-contraceptive-users
#4
Aaron McDaid, Emmanuelle Logette, Valérie Buchillier, Maude Muriset, Pierre Suchon, Thierry Daniel Pache, Goranka Tanackovic, Zoltán Kutalik, Joëlle Michaud
BACKGROUND: Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by 3 to 7 fold, depending on estrogen dosage and the type of progestin present in the pill. One out of 1'000 women using CC develops thrombosis, often with life-long consequences; a risk assessment is therefore necessary prior to such treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28738977/glutathione-peroxidase-3-gene-polymorphisms-and-the-risk-of-sudden-sensorineural-hearing-loss
#5
Chen-Yu Chien, Tzu-Yen Huang, Shu-Yu Tai, Ning-Chia Chang, Hsun-Mo Wang, Ling-Feng Wang, Kuen-Yao Ho
The glutathione peroxidase 3 gene (GPX3) is reported to be a risk factor for arterial ischaemic stroke and cerebral venous thrombosis. GPX3 may be one of the aetiologies of sudden sensorineural hearing loss (SSNHL), which might be attributed to the genetic effect of GPX3 by influence reactive oxygen species (ROS). Unbalanced ROS have been associated with susceptibility to SSNHL. Therefore, we conducted a case-control study with 416 SSNHL cases and 255 controls. Five single nucleotide polymorphisms (SNPs) were selected...
July 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28730407/venous-thromboembolism-thrombosis-inflammation-and-immunothrombosis-for-clinicians
#6
REVIEW
Eduardo Vazquez-Garza, Carlos Jerjes-Sanchez, Aline Navarrete, Jorge Joya-Harrison, David Rodriguez
Venous thromboembolism (VTE) is a worldwide disease related with mortality, cardiovascular disability, impaired quality of life and, cause major long-term complications. Clinicians related to the acute and long-term patients care must be involved in the molecular mechanisms of thrombosis. The vessel wall and its inner lining of the endothelium are critical to the maintenance of a patent vasculature. After endothelial disruption, collagen (first line of endothelial defense) and intravascular tissue factor (second line of endothelial defense) are exposed to blood flow, starting the formation of a thrombus...
July 20, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28715512/mouse-models-of-deep-vein-thrombosis
#7
T Schönfelder, S Jäckel, P Wenzel
The pathogenesis of venous thromboembolism (VTE) is still not completely understood. Experimental animals in which human deep vein thrombosis can be modeled are useful tools to investigate the pathogenesis of VTE. Besides the availability of transgenic and genetically modified mice, the use of high frequency ultrasound and intravital microscopy plays an important role in identifying thrombotic processes in mouse models. In this article, an overview about the application of various new technologies and existing mouse models is provided, and the impact of venous side branches on deep vein thrombosis in the mouse model is discussed...
2017: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
https://www.readbyqxmd.com/read/28710034/association-of-thrombomodulin-c-1418c-t-polymorphism-and-venous-thromboembolism
#8
Bei Hu, Qing-Yun Wang, Liang Tang, Yu Hu
OBJECTIVES: To investigate the association between thrombomodulin c.1418C>T polymorphism and venous thrombosis. METHODS: Systematic searches of Pubmed, EMBASE, Chinese Biomedical Database, Chinese National Knowledge Infrastructure, the VIP Database and WANFANG Database were performed. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated to assess the strength of the association. Subgroup analysis was conducted to seek for potential sources of heterogeneity...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28698781/idiopathic-pulmonary-embolism-in-a-case-of-severe-family-ankrd26-thrombocytopenia
#9
Jerome Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remy Favier
Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28694860/postpartum-aortic-bifurcation-thrombosis-on-the-background-of-thrombophilic-disorder
#10
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/28688874/the-role-of-endothelial-dysfunction-and-inflammation-in-chronic-venous-disease
#11
REVIEW
Ricardo Castro-Ferreira, Rita Cardoso, Adelino Leite-Moreira, Armando Mansilha
Chronic venous disease is a potentially prevalent and debilitating condition affecting millions of individuals, mostly in Western world. Predisposing genetic and environmental factors contribute to its development. However, the main etiology remains to be elucidated. An extensive literature search was conducted in Medline using the following key words algorithm: ("Chronic venous disease" OR "Chronic venous insufficiency" OR "varicose veins") AND ("endothelial dysfunction" OR "inflammation"). Besides being a multifactorial disease, it is now recognized that the hallmark of chronic venous disease pathophysiology likely remains in inflammation, possibly triggered by sustained venous hypertension and valvular incompetence...
July 6, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28686706/plasminogen-tochigi-mice-exhibit-phenotypes-similar-to-wild-type-mice-under-experimental-thrombotic-conditions
#12
Yuko Tashima, Fumiaki Banno, Toshiyuki Kita, Yasuyuki Matsuda, Hiroji Yanamoto, Toshiyuki Miyata
Plasminogen (Plg) is a precursor of plasmin that degrades fibrin. A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity. The Plg-A620T mutation is present in 3-4% of individuals in East Asian populations, and as many as 50,000 Japanese are estimated to be homozygous for the mutant 620T allele. In the present study, to understand the changes of thrombotic phenotypes in individuals with the mutant 620T allele, we generated knock-in mice carrying the homozygous Plg-A622T mutation (PlgT/T), an equivalent to the A620T mutation in human Plg...
2017: PloS One
https://www.readbyqxmd.com/read/28668241/patient-satisfaction-and-experience-with-intravenously-administered-c1-inhibitor-concentrates-in-the-united-states
#13
Marc A Riedl, Aleena Banerji, Paula J Busse, Douglas T Johnston, Mark A Davis-Lorton, Shital Patel, Howard Parr, Joseph Chiao, Douglas J Watson, Earl Burrell, Thomas Machnig
BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms. OBJECTIVE: To better understand patient experiences with using C1-INH(IV), including level of satisfaction and types and frequency of complications. METHODS: Fifty adult members (≥18 years of age) of the US HAE Association who had HAE type I or II completed a self-administered internet survey...
July 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28615140/imaging-features-of-myeloproliferative-neoplasms
#14
REVIEW
I G Murphy, E L Mitchell, L Raso-Barnett, A L Godfrey, E M Godfrey
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological disorders including polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukaemia (CML). These disorders show large overlap in genetic and clinical presentations, and can have many different imaging manifestations. Unusual thromboses, embolic events throughout the systemic or pulmonary vasculature, or osseous findings can often be clues to the underlying disease. There is limited literature about the imaging features of these disorders, and this may result in under-diagnosis...
June 11, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28598535/functional-impairment-and-risk-of-venous-thrombosis-in-older-adults
#15
Marissa J Engbers, Jeanet W Blom, Mary Cushman, Frits R Rosendaal, Astrid van Hylckama Vlieg
OBJECTIVES: To determine the role of age-specific risk factors for thrombosis in older age, such as functional impairment. DESIGN: Case-control study. SETTING: The Age and Thrombosis-Acquired and Genetic risk factors in the Elderly Study, a two-center study conducted in the Netherlands and the United States from 2008 to 2011. PARTICIPANTS: Individuals aged 70 and older with a first-time deep venous thrombosis in the leg or pulmonary embolism (n = 401) and controls aged 70 and older (n = 431) without a history of thrombosis...
June 9, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28579309/genetic-variation-in-the-first-pass-metabolism-of-ethinylestradiol-sex-hormone-binding-globulin-levels-and-venous-thrombosis-risk
#16
Bernardine H Stegeman, Hans L Vos, Frans M Helmerhorst, Frits R Rosendaal, Pieter H Reitsma, Astrid van Hylckama Vlieg
BACKGROUND: Use of ethinylestradiol, one of the active ingredients in combined oral contraceptives, affects the incidence of venous thrombosis. To explain why some women develop thrombosis when using oral contraceptives and others do not, we hypothesized a role for the first-pass metabolism of ethinylestradiol in the liver. We set out to determine the association between genetic variation in the first-pass metabolism of ethinylestradiol, venous thrombosis risk and the effect on Sex-hormone-binding-globulin (SHBG) levels...
July 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28552956/sex-specific-effect-of-cpb2-ala147thr-but-not-thr325ile-variants-on-the-risk-of-venous-thrombosis-a-comprehensive-meta-analysis
#17
Nora Zwingerman, Alejandra Medina-Rivera, Irfahan Kassam, Michael D Wilson, Pierre-Emmanuel Morange, David-Alexandre Trégouët, France Gagnon
BACKGROUND: Thrombin activatable fibrinolysis inhibitor (TAFI), encoded by the Carboxypeptidase B2 gene (CPB2), is an inhibitor of fibrinolysis and plays a role in the pathogenesis of venous thrombosis. Experimental findings support a functional role of genetic variants in CPB2, while epidemiological studies have been unable to confirm associations with risk of venous thrombosis. Sex-specific effects could underlie the observed inconsistent associations between CPB2 genetic variants and venous thrombosis...
2017: PloS One
https://www.readbyqxmd.com/read/28540474/lipid-levels-and-risk-of-venous-thrombosis-results-from-the-mega-study
#18
Vânia M Morelli, Willem M Lijfering, Mettine H A Bos, Frits R Rosendaal, Suzanne C Cannegieter
The relationship between lipid levels and risk of venous thrombosis is not well established. We aimed to assess the association between several lipids and risk of venous thrombosis using data from a population-based case-control study, and to evaluate the underlying mechanism, considering confounding by common risk factors and mediation via hemostatic factors and C-reactive protein. From the Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis (MEGA) study, 2234 patients with a first venous thrombosis and 2873 controls were included...
May 24, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#19
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28474148/sildenafil-related-cerebral-venous-sinus-thrombosis-and-papilledema-a-case-report-of-a-rare-entity
#20
Dilek Top Karti, Omer Karti, Dilara Aktert, Figen Gokcay, Nese Celebisoy
We present a rare case of cerebral venous sinus thrombosis associated with long-term and high-dose use of sildenafil. A 29-year-old man was referred to our neuroophthalmology clinic for bilateral visual deterioration and severe headache. He had stage 2 papilledema and other clinical and neurological examinations were normal. He had used the drug for nearly 2 years, two to three times a day. All laboratory parameters including blood count cell, coagulation panels, and genetic tests including methylene-tetrahydrofolate reductase and factor V Leiden mutation were unremarkable...
May 4, 2017: Neurological Sciences
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