Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals.

The risk of thrombosis in individuals with rare compound thrombophilias, homozygous factor V Leiden (FVL) plus heterozygous prothrombin G20210A (PTM), homozygous PTM plus heterozygous FVL, and homozygous FVL plus homozygous PTM, is unknown. We identified, worldwide, individuals with these compound thrombophilias, predominantly through mailing members of the International Society on Thrombosis and Haemostasis. Physicians were sent a clinical questionnaire.

[Consensus statement: Stroke prevention in nonvalvular atrial fibrillation in special consideration of the new direct oral anticoagulants].

The introduction of new direct oral anticoagulants has changed the treatment of nonvalvular atrial fibrillation. However, these changes are not yet fully reflected in current guidelines.This consensus statement, endorsed by six Austrian medical societies, provides guidance to current prophylactic approaches of thromboembolic events in nonvalvular atrial fibrillation on the basis of current evidence and published guidelines.

Management of dabigatran-induced bleeding: expert statement.

The interdisciplinary group of experts has compiled a clinical guidance for manifest dabigatran-induced haemorrhage and envisaged invasive interventions on patients under dabigatran. It recommends an escalation of treatment measures as summarized in a pocket guide (see electronic supplementary material online and insert in the print issue).

Interference of the new oral anticoagulant dabigatran with frequently used coagulation tests.

Background: Dabigatran etexilate is a new oral anticoagulant for the therapy and prophylaxis of venous thromboembolism and stroke prevention in patients with atrial fibrillation. To investigate the extent of interactions of this new anticoagulant with frequently used coagulation assays, we completed a multicenter in vitro trial with Conformité Européenne(CE)-labeled dabigatran-spiked plasma samples.

Methods: Lyophilized plasma samples with dabigatran concentrations ranging from 0.

Dabigatran in patients with atrial fibrillation: perioperative and periinterventional management.

In any type of invasive surgery, the patient's individual risk of thromboembolism has to be weighed against the risk of bleeding. Based on various everyday situations in clinical routine, the purpose of the present expert recommendations is to provide appropriate perioperative and periinterventional management for patients with atrial fibrillation undergoing long-term treatment with the thrombin inhibitor dabigatran. As we currently have no routine laboratory test to measure therapeutic levels of the substance or the risk of bleeding, general measures such as a standardized documentation of the patient's history, a sufficient time interval between the last preoperative dose and the procedure, and careful control of local hemostasis should be given special attention.

Homocysteine, folate and vitamin b12 in patients with coronary heart disease.

Background/aims: Homocysteine and possibly also folate and vitamin B(12) are involved in the pathogenesis of cardiovascular disease. We investigated the prevalence of hyperhomocysteinemia in patients with coronary heart disease (CHD), as well as folate and vitamin B(12), the main nutritional factors determining the level of homocysteine.

Methods: Patients with angiographically documented CHD were prospectively investigated (n = 315, 70% male, mean age 61 [range 36-81] years).

Prediction of recurrent venous thromboembolism by the activated partial thromboplastin time.

Background: Venous thromboembolism (VTE) is a multi-factorial disease. Extensive thrombophilia screening is costly and often inconclusive. Simple laboratory methods are required to predict the risk of recurrence.

[Recurrent miscarriage or failed in-vitro fertilization: antibodies against annexin V, cardiolipin, beta-2-glycoprotein-1 and APC-resistance].

Unlabelled: Antibodies against annexin-V, a potent anticoagulant abundant in placental tissues, were recently controversially reported to be associated with recurrent miscarriages or failures of in-vitro-fertilization (IVF) attempts.

Patients, Material, Methods: We screened 56 women (34.7 +/- 4.

Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation.

The Scientific Committee of Molecular Biology Techniques (C-MBT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs) for the analysis of the human prothrombin gene G20210A mutation. Although DNA tests have a high impact on clinical decision-making and the number of tests performed in diagnostic laboratories is high, issues of quality and quality assurance exist, and currently only a few RMs for clinical genetic testing are available. A gene fragment chosen was produced that spans all primer annealing sites published to date.

[Monitoring of tienopyridines or glycoprotein IIb/IIIa-receptor antagonists: simple platelet function tests].

Platelet function analyses were known as mystified, complicated, and time consuming laboratory investigations with a high coefficient of variation. Only in rare cases they led to precise interpretations under routine clinical laboratory conditions. In the first line they were focussed on bleeding tendencies.

No evidence of hepatitis B virus activity in patients with anti-HBc antibody positivity with or without anti-hepatitis C virus antibody positivity.

Background: The serological pattern of anti-HBc antibody positivity without both, HBsAg and anti-HBs antibody positivity may be present in up to 4% of the population of Europe and the United States.

Objectives: The aim of the present study was to determine the hepatitis B virus (HBV) activity by detection of serum HBV DNA in patients with anti-HBc antibody positivity only and with confirmed anti-hepatitis C virus (anti-HCV) antibody positivity or without anti-HCV antibody positivity.

Study Design: A total of 141 patients positive for anti-HBc antibodies only, were investigated on serum HBV DNA load.

Hyperlipidemia coincides with reversible growth impairment of cultured human autologous endothelial cells.

Patient-related risk factors for the growth of autologous endothelial cells were assessed in a clinical series of 100 consecutive recipients of in vitro endothelialized prosthetic vascular grafts. For all patients, the indication for bypass operation was arteriosclerotic occlusive disease of the distal arteries. Endothelial cells were harvested from a small piece of subdermal vein and cultured in medium containing 20% of autologous serum.

Hepatitis B virus activity in patients with anti-hepatitis C virus antibody positivity and hepatitis B antigen positivity.

Background: Co-infection with hepatitis B virus (HBV) and HCV seems to be relatively frequent. There might be a mutual influence on replication activity of HBV and HCV.

Objectives: To determine the HBV activity in patients with serum HCV RNA and HBsAg positivity and in those with confirmed anti-HCV antibody and HBsAg positivity but serum HCV RNA negativity.

Relation of homocysteine, vitamin B(12), and folate to coronary in-stent restenosis.

Coronary in-stent restenosis represents a clinical problem. Because homocysteine is being discussed as a new risk factor for atherosclerosis and thrombosis, this study investigated the relations of homocysteine, folate, and vitamin B(12) to the rate of in-stent restenosis. Patients undergoing successful percutaneous transluminal coronary angioplasty of native coronary lesions with stent implantation were investigated for fasting total serum homocysteine, folic acid, and vitamin B(12).

HCV genotypes and age distribution in patients of Vienna and surrounding areas.

Background: Chronic hepatitis C (CHC) can result in liver cirrhosis and hepatocellular carcinoma. Determination of the hepatitis C virus (HCV) genotype/subtype may be of prognostic value to estimate the risk of development of liver cirrhosis.

Objective: The HCV genotype/subtype was determined in patients with CHC and possible associations with age, source of HCV transmission, duration of HCV infection, and development of liver cirrhosis were investigated.

Rational, high quality laboratory monitoring before, during, and after infusion of prothrombin complex concentrates.

Prothrombin complex concentrates (PCCs) have been used for over thirty years to treat or prevent bleeding due to hemophilia B, vitamin K deficiency, warfarin overdose, liver disease, or deficiency of one of the prothrombin complex factors. This article tries to answer the questions of which profile of laboratory assays is required for the establishment of the diagnosis; what are indications of replacement therapy with PCCs; how to monitor the therapeutic effect; and how to monitor a possible prethrombotic state after PCC infusion. After proposing basic, standard, and optimal profiles of hemostaseological assays, the basic principal characteristics of a quality management satisfying the requirements of good laboratory practice are discussed.

Venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor V Leiden mutation.

We report on members of a Turkish thrombophilic family with coinheritance of the prothrombin mutation PT20210A and the factor V Leiden mutation. The 23-year-old propositus and his elder sister both had episodes of venous theomboembolism at a young age (23 years and 26 years, respectively) and are homozygous for the PT20210A mutation and heterozygous for the factor V Leiden mutation. The 51-year-old father is suffering from coronary heart disease and is heterozygous for both thrombophilic mutations.

A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.

A hitherto unknown splice site mutation, in the splice acceptor of intron B (tctag to tctgg), was identified in a symptomatic patient with type III protein S deficiency. The mutation co-segregated with type I/III protein S deficiency in the patient's family. RNA analysis showed allelic exclusion of the mutant transcript in affected individuals.

Mutations in the human factor XII gene.

The factor XII gene from 31 unrelated factor XII-deficient patients from Germany, Switzerland, and Austria was screened for mutations at the genomic level. Several novel mutations were detected and their absence in a control group of 74 healthy unrelated individuals was checked. Most changes are in the serine protease domain affecting the catalytic triad His-393-Asp-442-Ser-544; two missense mutations, R398Q (arginine 398 to glutamine; gene bank accession no.