Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two distinct mechanisms.

Effect of rivaroxaban and dabigatran on platelet functions: in vitro study.

Introduction: Clinical benefit-risk balance of direct oral anticoagulants (DOAC) in atherothrombosis prevention differs between anti-Xa and anti-IIa drugs and their specific effect on platelet functions remains controversial. We hence investigated rivaroxaban and dabigatran effect on platelets in identical experimental conditions.

Materials And Methods: Blood of fifteen healthy volunteers was spiked with DOAC which plasma concentrations were measured by specific anti-Xa or anti-IIa assays.

[Vitamine K antagonists overdose: Physician adherence to the French guidelines].

Introduction: Vitamin K antagonists (VKA) are drugs with a major risk of side effect. Guidelines have been published in 2008 by the Haute Autorité de santé (HAS) concerning the management of an excessively elevated INR ratio. Our research aimed to assess physicians' adherence to those guidelines.

Impact of a pneumatic tube system transport on hemostasis parameters measurement: the experiment of Cochin universitary hospital (AP-HP, Paris, France).

Samples transported by pneumatic tube system are submitted to forces of acceleration and deceleration which can affect laboratory parameters. At Cochin hospital, majority of samples of hemostasis, except for platelets tests, are transported by pneumatic tube system. The objective of this study was to evaluate the impact of a pneumatic tube system (PTS) transport compared to hand-delivered transport on samples and to qualify Cochin hospital PTS according to requirements of standard ISO 15189.

PT, aPTT, TT and the hemostatic safety threshold of dabigatran and rivaroxaban.

The proposals of the Working group on perioperative hemostasis (Groupe d'intérêt en hémostase péri-opératoire (GIHP)) concerning the perioperative management of patients receiving the direct oral anticoagulants (DOACs) are based on the measure of their anticoagulant activities (anti-Xa for rivaroxaban and anti-IIa for dabigatran) with a safety threshold ≤ 30 ng/mL. If the dosage of the drug is not available, proposals are based on the combination of a PT ≥80% and an aPTT ≤1.20.

Peri-procedural management of dabigatran and rivaroxaban: Duration of anticoagulant discontinuation and drug concentrations.

Background: Peri-procedural management of direct oral anticoagulants (DOAC) is challenging. The optimal duration of pre-procedural discontinuation that guarantees a minimal DOAC concentration ([DOAC]) at surgery is unknown. The usual 48-hour discontinuation might not be sufficient for all patients.

Prevalence of Hereditary Thrombophilia in Patients Older Than 75 Years With Venous Thromboembolism Referred for Thrombophilia Screening.

Background: Few studies focused on genetic risk factors for venous thromboembolism (VTE) in the very elderly people. In patients aged 75 years and older with VTE referred for laboratory screening tests for thrombophilia, we aimed: (i) to estimate the F5G1691A and F2G20210A mutation prevalence; (ii) to compare prevalence rates with those of a control group; and (iii) to compare the prevalence rates between patient subgroups, defined as with one or multiple VTE episodes and with provoked/unprovoked VTE.

Methods: Data were extracted from two prospective thrombophilia registries according to the following inclusion criteria: Caucasian patients aged 75 years and older presenting with at least one confirmed VTE episode.

Expanding the scope of metathesis: a survey of polyfunctional, single-site supported tungsten systems for hydrocarbon valorization.

Olefin metathesis is increasingly incorporated in polyfunctional industrial processes. The classical WO3/SiO2 olefin metathesis catalyst is combined to other catalysts in order to afford higher added-value chemicals. However, the combination of several reactions, not only in a single reactor, but also stemming from a single, multifunctional surface species is a desirable improvement regarding process issues.

Hepatosplenic candidiasis in the era of new antifungal drugs: a study in Paris 2000-2007.

We report a retrospective study of 24 patients with haematological malignancy and hepatosplenic candidiasis. Clinical and biological features were similar to previous reports. No patient previously received antifungal prophylaxis.

High selectivity production of propylene from 2-butene: non-degenerate pathways to convert symmetric olefins via olefin metathesis.

The first example of propylene production from 2-butene in promising yield is described by reacting trans-2-butene over tungsten hydrides precursor W-H/Al(2)O(3) at 150 °C and different pressures in a continuous flow reactor. The tungsten carbene-hydride active site operates as a "bi-functional catalyst" through the disfavoured 2-butene isomerisation on W-hydride and 2-butenes/1-butene cross-metathesis on W-carbene.

Development of the first well-defined tungsten oxo alkyl derivatives supported on silica by SOMC: towards a model of WO3/SiO2 olefin metathesis catalyst.

A well-defined, silica-supported tungsten oxo alkyl species prepared by the surface organometallic chemistry approach displays high and sustained activity in propene metathesis. Remarkably, its catalytic performances outpace those of the parent imido derivative, underlining the importance of the oxo ligand in the design of robust catalysts.

Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms.

Activating mutations in signaling molecules, such as JAK2-V617F, have been associated with myeloproliferative neoplasms (MPNs). Mice lacking the inhibitory adaptor protein Lnk display deregulation of thrombopoietin/thrombopoietin receptor signaling pathways and exhibit similar myeloproliferative characteristics to those found in MPN patients, suggesting a role for Lnk in the molecular pathogenesis of these diseases. Here, we showed that LNK levels are up-regulated and correlate with an increase in the JAK2-V617F mutant allele burden in MPN patients.

Prothrombin G20210A carriers the genetic mutation and a history of venous thrombosis contributes to thrombin generation independently of factor II plasma levels.

Summary Background: The prothrombin (PT) G20210A gene mutation is a common risk factor for venous thrombosis (VT), which is mainly mediated through an increase in factor II (FII) plasma levels. High FII plasma levels may act through an increase in endogenous thrombin potential (ETP) a key step in hemostasis and thrombosis. While FII may be the main contributor to ETP in PT G20210A carriers, the knowledge of other environmental or genetic factors influencing ETP may help to better identify those at risk of VT.

Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distribution.

Among inherited risk factors for venous thrombosis, the most common are the FV-G1691A and FII-G20210A polymorphisms. The FV-G1691A polymorphism is preferentially observed in Europe, with differences between European countries. The FII-G20210A polymorphism is observed all over the world.

Coagulation disorders in patients with venous malformation of the limbs and trunk: a case series of 118 patients.

Objective: To investigate the clinical characteristics of venous malformation of the limbs and trunk and known but poorly appraised associated coagulation disorders. Venous malformations are ubiquitous, slow-flow vascular anomalies known to be occasionally painful because of thrombotic episodes inside the lesion.

Design: Large case series, with screening of accepted standard coagulation tests.

Abrupt oxygen decrease influences thrombosis and bleeding in stenosed and endothelium-injured rabbit carotid arteries.

Background And Objective: Blood oxygen concentration decrease may be associated with haemostatic impairments. We aimed to study the effect of oxygen decrease in a rabbit model of thrombosis and bleeding.

Methods: A total of 44 rabbits were anaesthetized, ventilated and monitored for blood pressure, blood arterial gas, temperature and carotid blood flow.

A case report of adenovirus-related acute interstitial nephritis in a patient with AIDS.

In immunosuppressed individuals, such as hematopoietic stem cell transplant recipients, adenoviruses (ADVs) are a well-known cause of morbidity and mortality, with limited treatment options. However, only a few cases were reported in patients with acquired immunodeficiency syndrome (AIDS), and little is known about the relevance of such an infection in these patients with many other concomitant opportunistic infections. We report the case of a 34-year-old man with AIDS presenting with gross hematuria, right flank pain, and acute decrease in kidney function superimposed on chronic kidney disease.

Trapping and apoptosis of novel subsets of memory T lymphocytes expressing CCR6 in the spleen of HIV-infected patients.

CCR6, a homeostatic chemokine receptor, is shown here to characterize subsets of both central and effector memory T cells that secrete high levels of IL-2 and TNF-alpha in response to polyclonal and antigen-specific stimulation. CCR6(+) T lymphocytes disappeared dramatically from the peripheral blood of HIV-infected patients as HIV disease progressed. The capacity of CD4(+)CCR6(+) to secrete multiple cytokines remained intact among HIV-infected long-term nonprogressors but was partially lost from subjects with standard disease progression.

Interaction between paracetamol and warfarin in patients: a double-blind, placebo-controlled, randomized study.

Background And Objectives: Paracetamol (acetaminophen) has occasionally been reported to interact with warfarin. The primary end-point of this study was to investigate whether paracetamol initiation potentiates the anticoagulant effect of warfarin and the mechanism of the interaction.

Design And Methods: In a double-blind placebo-controlled, randomized, cross-over study, 20 patients on stable oral anticoagulant therapy with warfarin for at least 1 month were randomized to receive placebo or paracetamol 1g four times daily for 14 days.

Recombinant activated factor VII efficacy and safety in a model of bleeding and thrombosis in hypothermic rabbits: a blind study.

Background: Recombinant activated factor VII (rFVIIa) is increasingly used to secure hemostasis in hemorrhagic situations in trauma and surgical patients. Hypothermia is often observed in these clinical settings.

Objective: To study the efficacy and safety of rFVIIa in hypothermia in a rabbit model of bleeding and thrombosis.

[Digestive surgery and varicose vein surgery].

The thromboembolic risk related to surgery may be considered as low for varicose vein surgery and non major digestive surgery. It could be defined as moderate in case of large dissection, long duration of procedures and emergency cases. The risk may be considered as high for major abdominal surgery involving cancer surgery or not and bariatric surgery.