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Factor v leiden

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
Heiko Rühl, Franziska Isabelle Winterhagen, Christina Berens, Jens Müller, Johannes Oldenburg, Bernd Pötzsch
No abstract text is available yet for this article.
February 21, 2018: Blood
https://www.readbyqxmd.com/read/29454086/high-prevalence-of-factor-v-leiden-and-prothrombin-g20101a-mutations-in-kashmiri-patients-with-venous-thromboembolism
#12
Syed Shafia, Mahrukh H Zargar, Nabeela Khan, Rehana Ahmad, Zafar Amin Shah, Ravouf Asimi
AIM: The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism. METHODOLOGY: A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. RESULT: The factor V Leiden G1691A mutation was found in 17/250 (6...
February 14, 2018: Gene
https://www.readbyqxmd.com/read/29435277/methylenetetrahydrofolate-reductase-gene-c677t-and-a1298c-polymorphisms-and-susceptibility-to-recurrent-pregnancy-loss
#13
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29407626/laboratory-biomarkers-for-venous-thromboembolism-risk-in-patients-with-hematologic-malignancies-a-review
#14
REVIEW
B T Samuelson Bannow, B A Konkle
INTRODUCTION: Despite high rates of venous thromboembolism (VTE) among patients with hematologic malignancies, few tools exist to assist providers in identifying those patients at highest risk for this potentially fatal complication. Laboratory biomarkers, such as d-dimer, have demonstrated utility in some clinical settings to distinguish patients at increased risk. MATERIALS AND METHODS: We performed a systematic review of the literature utilizing search terms including "biomarker", "venous thromboembolism", "hematologic malignancy", "lymphoma", "myeloma" and "leukemia" in the Medline database...
March 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29402471/direct-oral-anticoagulant-use-in-patients-with-thrombophilia-antiphospholipid-syndrome-or-venous-thrombosis-of-unusual-sites-a-narrative-review
#15
REVIEW
Laurent Bertoletti, Ygal Benhamou, Yannick Béjot, Sylvestre Marechaux, Saida Cheggour, Boris Aleil, Nicolas Lellouche, Jean-Guillaume Dillinger, Aurélien Delluc
Direct oral anticoagulants (DOACs) are indicated in the treatment and prevention of venous thromboembolism (VTE). However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data...
February 2, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29372092/intravenous-remifentanil-analgaesia-for-an-obstetric-patient-with-type-i-neurofibromatosis-and-a-factor-v-leiden-mutation
#16
José L Gálvez, Carlos L Errando, Silvia Serrano, Marga Martín-Ayuso, José M Valverde-Mantecón
Type I neurofibromatosis is characterised by altered skin pigmentation and the growth of benign tumours, particularly along the peripheral nerves and central nervous system. We report a 36-year-old primigravida woman in labour who was admitted to the obstetric suite of the Hospital Sant Joan de Déu, Barcelona, Spain, in 2007 with hypothyroidism, type I neurofibromatosis and a factor V Leiden mutation. Due to a lack of cranial and spinal imaging data, an epidural was not indicated; instead, continuous intravenous remifentanil analgaesia was administered...
November 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29372059/factor-v-leiden-g1691a-and-prothrombin-g20210a-mutations-among-palestinian-patients-with-sickle-cell-disease
#17
Fekri Samarah, Mahmoud A Srour
Background: Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. Methods: A total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with sickle β-thalassemia and 25 individuals with sickle cell trait (AS) were studied...
2018: BMC Hematology
https://www.readbyqxmd.com/read/29369598/a-case-of-hereditary-thrombophilia-in-a-chinese-han-patient-with-both-antithrombin-deficiency-and-factor-v-leiden-a-case-report-and-literature-review
#18
Xinyuan Li, Weihong Lin, Lijun Zhu, Yonghong Wang, Shan Liu, Jing Liu, Heqian Du, Shaokuan Fang
Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses...
December 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29367870/epstein-barr-virus-related-cutaneous-necrotizing-vasculitis-in-a-girl-heterozygous-for-factor-v-leiden
#19
Cristina Guerriero, Gaia Moretta, Giulia Bersani, Piero Valentini, Antonio Gatto, Donato Rigante
Background: Necrotizing vasculitides are basically characterized by vessel wall neutrophil infiltration and necrosis and they can occur as a primary process or secondary to an underlying disease. Although Henoch-Schönlein purpura (HSp) is the more frequent primary vasculitis in childhood, sometimes it has to be distinguished from other secondary vasculitides induced by infections, drugs, vaccines, or immune-mediated disorders. Main observations: We report a case of a 14-year-old girl with cutaneous necrotizing vasculitis, appearing in the course of acute Epstein-Barr virus infection...
December 1, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/29320959/factor-v-leiden-paradox-in-a-middle-aged-swedish-population-a-prospective-study
#20
Bengt Zöller, Olle Melander, Peter J Svensson, Gunnar Engström
Few prospective studies have examined the factor V paradox: factor V Leiden (FVL) is a stronger risk factor for deep venous thrombosis (DVT) than for pulmonary embolism (PE). The present study, to the best of our knowledge, is the first population-based study aimed to examine the relationship between FVL and incidence of venous thromboembolism (VTE), DVT and PE in a prospective cohort study of middle-aged Swedish individuals. FVL was determined in 4890 subjects (aged 46-68 years, 57% women) from the general population without previous VTE or cancer, who participated in the Malmö Diet and Cancer study between 1991 and 1994...
February 2018: Vascular Medicine
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