77 research outputs found
Combined factor V and factor VII deficiency due to an independent segregation of the two defects.
A patient with combined factor V and factor VII deficiency is described together with a family study. The pro positus appeared to be double heterozygous for factor V and factor VII deficiency. Since the patient showed a parallel de crease of activity and antigen, he appeared to be double het erozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguin eous. Other family members were found to have isolated factor V or factor VII deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays
Thrombosis and thrombophilia in children: a systematic review.
Thrombotic events are uncommon disorders in childhood but increasingly recognized due to the progress made in the understanding of the hemostasis system and the importance of thromboembolic disorders in children. Multiple clinical underlying conditions and prothrombotic disorders contribute to the development of thrombosis in neonates and children. In recent years programs have emerged that specialize in the diagnosis, prevention, and treatment of thrombosis in children. This review summarizes the current knowledge of the risk factors for thromboembolic events in the venous and arterial systems in children, the use of antithrombotic prophylaxis, and the role of thrombophilia. First, the clinical manifestations and the problems of diagnosing venous thromboembolic diseases and cerebrovascular diseases in children are reviewed. The prophylactic use of anticoagulants in children is also discussed. Unfortunately there are no large prospective randomized trials in children, thus guidelines are based on small studies or on extrapolation of data from adults. Second, the impact of prothrombotic defects in pediatric patients and the issue of routine testing for these disturbances are reviewed
Long term use of oral contraceptives without thrombosis in patients with FV Leiden polymorphism: a study of 37 patients (2 homozygous and 35 heterozygous).
Effect on thrombin generation of the "in vitro" addition of low-dose LMWH to plasma of healthy pregnant and nonpregnant women.
A protein S functional assay yields unsatisfactory results in patients with activated protein C resistance.
Peculiar laboratory phenotype/ genotype relationship due to compound inherited protein C defects in a child with severe venous thromboembolism
Factor VIIa-antithrombin complexes plasma levels in cancer patients with and without thrombosis.
Thrombin activatable fibrinolysis inhibitor in cancer patients with and without venous thromboembolism.
Factor IX activity/antigen ratio and the risk of first unprovoked venous thromboembolism.
Identification of a novel frameshift mutation causing a premature stop codon in a young Nigerian man with type I antithrombin deficiency.
- …