The inherited basis of venous thrombosis

Appleby, Ruth D.; Olds, R.J.

doi:10.1080/00313029700169285

Cited by 29 publications

(10 citation statements)

References 36 publications

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“…These mechanisms can provide a possible explanation for the contribution of the ACE D/D genotype to small-vessel infarcts. The Leiden V mutation, which causes activated protein C resistance, however, has been reported to be associated directly with thrombophilia [3]. As an unfavourable direct thrombophilic factor, it might give rise to a large brain infarction.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the roles of the Leiden V mutation and ACE I/D polymorphism in subtypes of ischaemic stroke

Szolnoki¹,

Somogyvári

Kondacs³

et al. 2001

Journal of Neurology

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Section: Discussionmentioning

confidence: 99%

Evaluation of the roles of the Leiden V mutation and ACE I/D polymorphism in subtypes of ischaemic stroke

Szolnoki¹,

Somogyvári

Kondacs³

et al. 2001

Journal of Neurology

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“…The commonest thrombophilic predisposition, however, is a variant of coagulation factor V, factor V Leiden, which results from a single amino acid substitution rendering the factor V molecule resistant to activated protein C. Factor V Leiden is present in approximately 5% of individuals of European origin and is found in up to 40% of those with confirmed venous thrombosis. Increasingly, it is recognized that venous thrombosis should be considered a polygenic disorder, with interactions between the various single gene defects that predispose an individual to thrombosis, as well as normal genetic variation between persons in the levels of both procoagulant and anticoagulant proteins, all determining which individuals will express the phenotype of venous thrombosis 17…”

Section: Coagulationmentioning

confidence: 99%

Contraception in Women at High Risk or with Established Cardiovascular Disease

Pitsavos

Stefanadis

Toutouzas

2000

Annals of the New York Academy of Sciences

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Oral contraceptives are one of the most effective and widely used reversible contraceptive methods. Over 90 million women worldwide, including over 44 million in developing countries, are now using oral contraceptives. Despite their advantages, there is concern about the links between combined oral contraceptives and the risk of cardiovascular disease. The risk attributable to oral contraceptive use in women <35 years of age is small, even if they smoke, but there are substantially increased risks in older women who both smoke and use oral contraceptives. Differences between oral contraceptive types in the relative risk of venous thromboembolism contribute little to the total cardiovascular mortality associated with oral contraceptive use, even though the total number of cardiovascular events is increased. It is important to consider the user's age and smoking status when determining oral contraceptive-attributable risks. Hormonal oral contraceptives have changed and now contain lower doses of estrogen and progestagen.

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“…Factor V Leiden [FVL; or resistance to activated Protein C (APC)] is the most common hereditary blood-coagulation disorder in the United States (5% of the Caucasian population and 1.2% of the African American population (Appleby and Olds, 1997; Makris, et al, 1997; Rao, et al, 1998; Haas, et al, 1998; Hull et al, 1986; Mattson and Crisan, 1998). The heterozygous form of FVL has been estimated to be 3–7% of Caucasians, while the homozygous state occurs in 1 in 5000 individuals (Rao, et al, 1998).…”

Section: Introductionmentioning

confidence: 99%

Near real-time immuno-optical sensor for diagnosing single point mutation

Kang

Ren

Sharma

et al. 2009

Biosensors and Bioelectronics

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Factor V leiden (FVL) is an abnormality of factor V (FV), a blood coagulation factor. It is a hereditary blood coagulation disorder with a high frequency (3-7% of general population). The most common type of FVL is caused by a single amino acid mutation and, therefore, its diagnosis is currently done only by DNA analysis, which takes a long time and is expensive. We have developed a rapid, accurate, and cost-effective, sandwich immuno-optical sensing method. To produce monoclonal antibodies against FV or FVL, having minimal cross-reactivity with the other molecule, a 20 amino acid sequence (20-mer) of FV or FVL at around the mutation site was utilized. The antibodies were screened first with the 20-mers and then with native FV or FVL molecules and they showed some cross reactivity. Using two antibodies having strongest affinity to either FV or FVL molecule, a FV and a FVL preferred sensors, were produced. After verifying that the levels of the antibody affinity to the two different molecules remained constant with changes in analyte concentration, a two-sensor system is developed to quantify FV and FVL in plasma samples. The system quantified the levels of FV and FVL at the maximum error of 0.5 μg/ml-plasma, in their physiological concentration range of 0-12 μg/ml-plasma. The levels of both molecules may provide us whether the patient has FVL or not but also the seriousness level of the disease (homozygous and different level of heterozygous).

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The inherited basis of venous thrombosis

Cited by 29 publications

References 36 publications

Evaluation of the roles of the Leiden V mutation and ACE I/D polymorphism in subtypes of ischaemic stroke

Evaluation of the roles of the Leiden V mutation and ACE I/D polymorphism in subtypes of ischaemic stroke

Contraception in Women at High Risk or with Established Cardiovascular Disease

Near real-time immuno-optical sensor for diagnosing single point mutation

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