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https://www.readbyqxmd.com/read/29782332/detection-of-high-risk-thrombophilia-with-an-automated-global-test-the-coagulation-inhibitor-potential-assay
#1
Barbara Réger, Hajna Losonczy, Ágnes Nagy, Ágnes Péterfalvi, Réka Mózes, László Pótó, Nelli Farkas, Gábor L Kovács, Attila Miseta, Alizadeh Hussain, Orsolya Tóth
: The diagnosis of thrombophilia is a cost-consuming and time-consuming process, as each defect should be separately investigated. The Coagulation Inhibitor Potential (CIP) assay is a promising new global test, sensitive for most of the hereditary thrombophilias, developed for manual methodology. We adapt the original method to an optical coagulation analyser. By this automation, the test will be easier, faster and more precise, and it also allows carrying out 18 measurements simultaneously. The CIP assay was performed in 126 healthy subjects and 193 patients with different types of hereditary thrombophilia conditions...
May 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29775482/risk-of-venous-thromboembolism-in-association-with-factor-v-leiden-in-cancer-patients-the-edith-case-control-study
#2
Adeline Heraudeau, Aurélien Delluc, Mickaël Le Henaff, Karine Lacut, Christophe Leroyer, Benoit Desrues, Francis Couturaud, Cécile Tromeur
BACKGROUND: Cancer and factor V Leiden mutation are both risk factors for venous thromboembolism (VTE). Cancer critically increases the thrombotic risk whereas Factor V Leiden is the most common pro-thrombotic mutation. The impact of the factor V Leiden on the risk of VTE in cancer patients remains uncertain. OBJECTIVE: To assess the impact of factor V Leiden mutation in cancer-associated thrombosis. METHODS: The EDITH hospital-based case-control study enrolled 182 patients with cancer and VTE as well as 182 control patients with cancer, matched for gender, age and cancer location, between 2000 and 2012, in the University Hospital of Brest...
2018: PloS One
https://www.readbyqxmd.com/read/29771426/the-relationship-between-the-levels-and-function-of-endothelial-progenitor-cells-and-factor-v-leiden-and-protein-c-deficiency-in-patients-with-primary-budd-chiari-syndrome
#3
Z-Y Guan, C-W Yu, T Song, Y Gao
OBJECTIVE: Budd-Chiari syndrome (BCS) is a life-threatening hepatic disease characterized by hepatic venous obstruction at the level of hepatic vein, hepatic venules, or inferior vena cava. No evidence reported the relationship between the endothelial progenitor cells and the deficiency of factor V Leiden and protein C in patients with primary Budd-Chiari syndrome. PATIENTS AND METHODS: We recruited participants between June 2014 and July 2015. For primary BCS group, 28 patients were collected...
May 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29762928/early-thrombosis-of-a-mitral-annuloplasty-ring-in-a-patient-with-mthfr-and-factor-v-leiden-mutations
#4
Sinan Cerşit, Emrah Bayam, Sabahattin Gündüz, Mehmet Özkan
Mitral annuloplasty ring thrombosis is an extremely infrequent pathology, for which no evidence-based antithrombotic management has yet been described. Herein is presented a case of heterozygous Factor V Leiden (FVL) and hyperhomocysteinemia with homozygous methylenetetrahydrofolate reductase (MTHFR) mutations that caused early thrombosis of the mitral annuloplasty ring. The clinical management and antithrombotic treatment of the patient, and the implications of hyperhomocysteinemia, are discussed. Video 1: Mobile 9-mm thrombus of mitral annuloplasty ring on two-dimensional (2D) transesophageal echocardiography...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29750744/experience-and-prognosis-of-systemic-neonatal-thrombosis-at-a-level-iii-nicu
#5
Sevim Unal, Deniz Gönülal, Betül Siyah Bilgin, Vildan Koşan Çulha, Neşe Yarali
OBJECTIVE: The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. METHODS: We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. RESULTS: Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29722112/the-development-of-central-venous-thrombosis-in-hemodialyzed-patients-is-associated-with-catheter-tip-depth-and-localization
#6
Vedran Premuzic, Drazen Perkov, Ranko Smiljanic
INTRODUCTION: The aim of our work was to analyze the incidence of tunneled hemodialysis catheters-related thrombosis in hemodialyzed patients depending on catheter tip depth and position and to evaluate the impact of other established risk factors responsible for development of central venous thrombosis. METHODS: The presence of central vein thrombosis, location, and the depth of the catheter tip was reviewed by two experienced radiologists. All patients with suspected central venous thrombosis had factor V Leiden, lupus anticoagulant, and cardiolipin antibodies checked (acIgM and acIgG) and were evaluated with cat-scan venography...
May 2, 2018: Hemodialysis International
https://www.readbyqxmd.com/read/29720864/role-of-thrombophilia-in-splanchnic-venous-thrombosis-in-acute-pancreatitis
#7
Sobur Uddin Ahmed, Surinder S Rana, Jasmina Ahluwalia, Neelam Varma, Ravi Sharma, Rajesh Gupta, Mandeep Kang
Background: Splanchnic venous thrombosis (SVT) is a common vascular complication of acute pancreatitis (AP). We conducted this study to prospectively investigate the frequency, risk factors, and extent of SVT in patients with AP and to evaluate the role of thrombophilia in its causation. Methods: Patients with AP presenting between January 2015 and June 2016 were prospectively evaluated with contrast-enhanced computed tomography (CT) for the presence of SVT. These patients underwent a detailed analysis of coagulation parameters...
May 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29703881/the-association-of-factor-v-g1961a-factor-v-leiden-prothrombin-g20210a-mthfr-c677t-and-pai-1-4g-5g-polymorphisms-with-recurrent-pregnancy-loss-in-bosnian-women
#8
Amela Jusić, Devleta Balić, Aldijana Avdić, Maja Pođanin, Adem Balić
Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages...
August 1, 2018: Medicinski Glasnik
https://www.readbyqxmd.com/read/29703469/prothrombotic-genotypes-and-risk-of-venous-thromboembolism-in-cancer
#9
Olga V Gran, Sigrid K Brækkan, John-Bjarne Hansen
Venous thromboembolism (VTE) is a common and potentially life-threatening complication in cancer. Patients with cancer are at a higher risk of VTE-related complications such as major bleeding during anticoagulant treatment, recurrence and mortality. Therefore, it is important to identify cancer patients with high risk of VTE in order to implement targeted prevention to those with a favorable benefit-to-harm ratio for thromboprophylaxis. VTE is strongly heritable, and during the last decades, several prothrombotic genotypes associated with VTE-risk have been identified...
April 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29671165/polymorphisms-in-park2-and-mrpl37-are-associated-with-higher-risk-of-recurrent-venous-thromboembolism-in-a-sex-specific-manner
#10
Kristina Sundquist, Abrar Ahmad, Peter J Svensson, Bengt Zöller, Jan Sundquist, Ashfaque A Memon
Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). Genetic variants in PARK2 (rs4708928) and MRPL37 (rs10888838) genes have been shown to be associated with altered levels of mtDNA in a sex-specific manner. However, the role of these genetic variants in risk assessment of recurrent venous thromboembolism (VTE) is unknown. We investigated the role of these polymorphisms in VTE recurrence in patients from the Malmö thrombophilia study (MATS, n = 1465), followed for ~ 10 years...
April 18, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29658346/association-between-thrombophilia-gene-polymorphisms-and-recurrent-pregnancy-loss-risk-in-the-iranian-population
#11
Razieh Bigdeli, Mohammad Reza Younesi, Erfan Panahnejad, Vahid Asgary, Samaneh Heidarzadeh, Hoda Mazaheri, Samira Louni Aligoudarzi
Miscarriage is the most common complication in pregnancy. Considering the importance of the problem thrombophilia in pregnant women and its association with recurrent pregnancy loss (RPL), analysis of polymorphisms of genes involved in thrombophilia can be useful. We investigated the frequency and association between ten polymorphisms of seven thrombophilia genes and RPL in an Iranian population. This case-control study was conducted on 200 women with recurrent pregnancy loss and also on 200 women with at least one successful pregnancy as the control group...
April 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29652683/a-case-report-of-recurrent-severe-peripartum-cardiomyopathy-complicated-by-factor-v-leiden-and-multiple-endocrine-neoplasia-type-1-a-management-conundrum
#12
Amanda M Kleiman, Jessica L Sheeran, Mohamed Tiouririne
Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges...
April 15, 2018: A&A practice
https://www.readbyqxmd.com/read/29624150/frequency-and-characteristics-associated-with-inherited-thrombophilia-in-patients-with-intracranial-dural-arteriovenous-fistula
#13
Sara C LaHue, Helen Kim, Ludmila Pawlikowska, Jeffrey Nelson, Daniel L Cooke, Steven W Hetts, Vineeta Singh
OBJECTIVE The pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability. METHODS In this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped...
April 6, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29614525/type-of-combined-contraceptives-factor-v-leiden-mutation-and-risk-of-venous-thromboembolism
#14
Justine Hugon-Rodin, Marie-Hélène Horellou, Jacqueline Conard, Anne Gompel, Geneviève Plu-Bureau
OBJECTIVE:  This article estimates the interaction between types of combined hormonal contraception (CHC) and factor V Leiden (FVL) mutation on the risk of venous thrombosis event (VTE). SUBJECTS AND METHODS:  All premenopausal women with first incident VTE who were referred to our unit (Paris, France) between 2000 and 2009 were included in this case-only study. Differences in interactions by progestin type were assessed on a multiplicative scale, assuming the independence of genotype and prescription of type of CHC...
April 3, 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29576872/pfo-closure-in-high-risk-patient-with-paradoxical-arterial-embolism-deep-vein-thrombosis-pulmonary-embolism-and-factor-v-leiden-genetic-mutation
#15
A Parikh, T P Vacek
Occurrence of paradoxical arterial embolism may cause the first symptoms in patients with a coexisting hypercoagulable state and patent foramen ovale (PFO). This can result in significant morbidity and mortality depending on the location of the embolism. The risks and benefits of closure of small PFOs have not been well elucidated in prior studies. We describe a patient with a history of Factor V Leiden heterozygosity who presented with left arm pain secondary to arterial embolism. The patient was a 51-year-old male who initially presented to the emergency department after awaking from sleep with progressive, severe, burning left arm pain...
March 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29541428/association-of-factor-v-leiden-and-prothrombin-g20210a-polymorphisms-in-women-with-recurrent-pregnancy-loss-in-isfahan-province-iran
#16
Mohammad Taghi Kardi, Elham Yousefian, Azra Allahveisi, Sanaz Alaee
Background: Maternal thrombophilia has been identified as a risk factor for recurrent pregnancy loss (RPL). The aim of this study was to investigate the association between prothrombin G20210A and factor V Leiden (FVL) polymorphisms in women with RPL and a control group of parous women in Isfahan province of Iran. Methods: We studied 250 women with idiopathic RPL and 116 control cases. Prothrombin and FVL different genotypes were determined using polymerase chain reaction and reverse hybridization technique...
2018: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29523337/inherited-thrombophilia-and-pregnancy-loss-study-of-an-argentinian-cohort
#17
Silvia Perés Wingeyer, Federico Aranda, Sebastián Udry, José Latino, Gabriela de Larrañaga
BACKGROUND AND OBJECTIVES: Thrombophilia might increase the risk of suffering from obstetric complications by adversely affecting the normal placental vascular function. Our aim was to study the distributions of five thrombosis-associated genetic variants: factor V Leiden, prothrombin G20210A, -675 4G/5G PAI-1, 10034C/T gamma fibrinogen and 7872C/T factor XI and the frequencies of the deficiencies of protein C, S and antithrombin in Argentinian patients with recurrent pregnancy loss (RPL) and, therefore, to analyse their association with the risk and timing of RPL and the risk of suffering other vascular obstetric pathologies...
March 6, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29523280/can-thrombophilia-worsen-maternal-and-perinatal-outcomes-in-cases-of-severe-preeclampsia
#18
Fernanda Spadotto Baptista, Maria Rita de Figueiredo Lemos Bortolotto, Fabiola Roberta Marim Bianchini, Vera Lucia Jornada Krebs, Marcelo Zugaib, Rossana Pulcinelli Vieira Francisco
OBJECTIVE: To evaluate whether thrombophilia worsens maternal and foetal outcomes among patients with severe preeclampsia (PE). METHOD: From October 2009 to October 2014, an observational retrospective cohort study was performed on pregnant women with severe PE diagnosed before 34 weeks of gestation and their newborns hospitalized at the Clinics Hospital, FMUSP. Patients who had no heart disease, nephropathies, pre-gestational diabetes, gestational trophoblastic disease, foetal malformation, or twin pregnancy and who underwent thrombophilia screening during the postnatal period were included...
January 2018: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29513853/anti-phospholipid-syndrome-in-seven-leprosy-patients-with-thrombotic-events-on-corticosteroid-and-or-thalidomide-regimen-insights-on-genetic-and-laboratory-profiles
#19
Sebastian Vernal, Maria Jose Franco Brochado, Roberto Bueno-Filho, Paulo Louzada-Junior, Ana Maria Roselino
INTRODUCTION: Corticosteroids and/or thalidomides have been associated with thromboembolism events (TBE) in multibacillary (MB) leprosy. This report aimed to determine genetic and laboratory profiles associated with leprosy and TBE. METHODS: Antiphospholipid antibodies (aPL), coagulation-related exams, prothrombin and Leiden's factor V mutations, and ß2-glycoprotein-I (ß2GPI) Val247Leu polymorphism were assessed. RESULTS: Six out of seven patients with leprosy were treated with prednisone and/or thalidomide during TBE and presented at least one positive aPL...
January 2018: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29467181/in-vivo-thrombin-generation-and-subsequent-apc-formation-are-increased-in-factor-v-leiden-carriers
#20
LETTER
Heiko Rühl, Franziska Isabelle Winterhagen, Christina Berens, Jens Müller, Johannes Oldenburg, Bernd Pötzsch
No abstract text is available yet for this article.
March 29, 2018: Blood
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