نتایج جستجو برای: factor v leiden mutation

تعداد نتایج: 1368807  

2017
Jing Miao Geetha Naik Sivakumar Muddana Xiaohuan Li Supriya Bhimasani Ronald Alvin Mitchell Dariush Alaie Richard L. Petrillo

BACKGROUND Deep vein thrombosis (DVT) is a type of venous thromboembolism with diverse clinical and environmental risk factors. Very few cases of DVT with multiple high risk factors have been reported. Here, we report an uncommon DVT case with multiple etiological causes, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and heterozygous facto...

Journal: :Human reproduction update 2000
V Spina V Aleandri F Morini

A resistance to the anticoagulant activity of activated protein C (APC), most frequently due to a point mutation in the Factor V gene (the Leiden mutation), represents the most common genetic cause of thrombophilia. The Leiden mutation has been significantly related to pregnancy complications associated with hypercoagulation, e.g. deep vein thrombosis during pregnancy (8-fold increased risk), p...

2009
R Kreidy N Irani-Hakime

AIM Factor V Leiden (R506Q) mutation is the most commonly observed inherited genetic abnormality related to vein thrombosis. Lebanon has one of the highest frequencies of this mutation in the world with a prevalence of 14.4% in the general population. The aim of this study is to define risk factors including inherited genetic abnormalities among Lebanese patients with lower extremity deep vein ...

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2002
Kenneth A Bauer

In 1993, individuals with a hereditary predisposition to venous thromboembolism whose plasmas exhibited a poor response to activated protein C (APC) in an activated partial thromboplastin time assay were identified.1 The molecular basis for this laboratory phenotype of resistance to APC was a guanine to adenine mutation at nucleotide 1691 in the factor V gene.2 This results in the replacement o...

Journal: :British journal of haematology 1996
C Legnani G Palareti R Biagi S Coccheri F Bernardi F R Rosendaal P H Reitsma H de Ronde R M Bertina

Resistance to the anticoagulant effect of activated protein C (APC resistance), a frequent abnormality in patients with a history of venous thrombosis, is known to be due, in the large majority of cases, to the presence of an abnormal factor V: the factor V Leiden. It is reasonable to surmise that screening for this abnormality should be performed with a clotting method for APC resistance, befo...

Journal: :Pediatrics 1997
U Nowak-Göttl O Debus M Findeisen R Kassenböhmer H G Koch H Pollmann C Postler P Weber H Vielhaber

PURPOSE Elevated lipoprotein (a) [LP (a)] concentrations are independent risk factors of coronary heart disease or stroke in young adults. To clarify its role in childhood thromboembolism, Lp (a) was measured in 72 children with thromboembolism. METHODS In addition to Lp (a), defects of the protein C anticoagulant system, antithrombin, and antiphospholipid antibodies were investigated in chil...

Journal: :Blood 2000
J Cui D T Eitzman R J Westrick P D Christie Z J Xu A Y Yang A A Purkayastha T L Yang A L Metz K P Gallagher J A Tyson R D Rosenberg D Ginsburg

A polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime. In a small subset of patients, thrombosis is associated with coinheritance of other prothrombotic gene mutations. However, the potential contribution of additional ge...

Journal: :reports of biochemistry and molecular biology 0
fatemeh keify pardis clinical and genetics laboratory, mashhad, iran. mohsen azimi-nezhad pardis clinical and genetics laboratory, mashhad, iran - department of medical genetics, school of medicine, mashhad university of medical sciences, mashhad, iran - université de lorraine, unité de recherche “interactions gène-environnement en physiopathologie cardio vasculaire” l’umr inserm u 1122, ige-pcv, nancy, france. narges zhiyan-abed pardis clinical and genetics laboratory, mashhad, iran - razavi’s social welfare organization, mashhad, iran. mojila nasseri pardis clinical and genetics laboratory, mashhad, iran. mohammad reza abbaszadegan tel: +98 5117112343; fax: +98 5117112343

background: thrombophilia is a main predisposition to thrombosis due to a procoagulant state. several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. these thrombophilic mutations are methylenetetrahydrofolate reductase (mthfr, c677t, and a1298c), factor v leiden (g1691a), prothrombin gene mutation (factor ii, g20210a), and plasminogen...

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