Abstract:
:Thirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA-->TCA) resulting in an alanine to serine substitution. Six families (11 individuals) were identified by the screening of individuals with thromboembolic disease or with a family history of thromboembolic disease, whilst the remaining 12 families (20 individuals) were identified by screening of asymptomatic blood donors. Four individuals had a history of venous thrombotic disease, a further 2 gave a history of superficial thrombophlebitis but the remaining 25 individuals were asymptomatic. Affected individuals demonstrated normal immunological levels of antithrombin but a decrease in anti-IIa activity in the presence of heparin. Haplotype analysis was used to examine the possibility of a founder effect to explain the high frequency of this non-CpG mutation. 29/31 individuals showed a single common "core" haplotype, the only variation existing in the number of copies of an (ATT)n repeat polymorphism--13, 14, 15 or 17. The results suggest that at most there are four independent origins for this mutation.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Perry DJ,Daly ME,Tait RC,Walker ID,Brown K,Beauchamp NJ,Preston FE,Gyde H,Harper PL,Carrell RWsubject
Has Abstractpub_date
1998-02-01 00:00:00pages
249-53issue
2eissn
0340-6245issn
2567-689Xpii
98020249journal_volume
79pub_type
杂志文章abstract::An experimental model incorporating cultured endothelial cells (EC) was used to study the "factor VIII bypassing" activity of prothrombin complex concentrates (PCC), a property exploited in the treatment of hemophiliacs with alloantibodies to factor VIII. Two PCC preparations were ineffective as stimuli of tissue fact...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1991-11-01 00:00:00
abstract::Hemorrhagic diathesis was observed in patients with renal insufficiency after carbenicillin at serum levels greater than 300 mug/ml. Normal coagulation factors (F. I, II, V, VII, VIII, X), normal PTT, normal platelet counts, negative ethanol gelation test (fibrin monomers) were found as well as a prolongation of throm...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1976-08-31 00:00:00
abstract::In an international collaborative study three candidate reference and the local APTT reagent have been tested with lyophilized plasmas containing heparin added in vitro and fresh plasmas from heparinized patients to determine whether it was possible to standardize APTT heparin monitoring. The APTT responses of patient...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1995-01-01 00:00:00
abstract::Phospholipase C (PLC)-β2 (gene PLCB2) is a critical regulator of platelet responses upon activation. Mechanisms regulating of PLC-β2 expression in platelets/MKs are unknown. Our studies in a patient with platelet PLC-β2 deficiency revealed the PLCB2 coding sequence to be normal and decreased platelet PLC-β2 mRNA, sugg...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH15-09-0749
更新日期:2016-10-28 00:00:00
abstract::According to some authors factor VIII procoagulant activity may be dissociable from carrier protein (MW approximately 2 X 10(6) by agarose gel filtration, e.g. at high ionic strength. We were able to reproduce this phenomenon. However, addition of protease inhibitor (Trasylol) prevented the appearance of low molecular...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1976-02-29 00:00:00
abstract:: ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1657075
更新日期:1979-07-01 00:00:00
abstract::We investigated the influence of low molecular weight dextran sulfate (LMWdxs) and low molecular weight heparins (LMWH: dalteparin, enoxaparin and nadroparin) on the inhibition of FXIa by C1-inhibitor, alpha1-antitrypsin, alpha2-antiplasmin and antithrombin in a purified system and in plasma. The second order rate con...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1998-07-01 00:00:00
abstract::Mature circulating endothelial cells (CECs) are novel cellular markers of endothelial damage/dysfunction. The two main techniques of CEC enumeration are flow cytometry (FC) and immunomagnetic bead (IB) isolation. Both quantify CECs accurately, but a direct comparison of both methods has not been reported. We sought to...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH06-04-0185
更新日期:2006-07-01 00:00:00
abstract::Experimental studies have suggested that TNF alpha, a pro-inflammatory cytokine, may contribute to the deterioration of cardiovascular function through various mechanisms, including the generation of reactive oxygen species. It has not yet been demonstrated whether TNF alpha has prooxidant activity in patients with he...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-02-0105
更新日期:2003-08-01 00:00:00
abstract::As an adjunct to a European multicentre prospective study, five quality assessment (QA) exercises, spanning a period of 2.5 years, were undertaken. In these, fifteen laboratories from eight countries each performed ten haemostatic factor assays. The design of the QA exercises allowed the between-duplicate, between-day...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1991-02-12 00:00:00
abstract::Coumarin oral anticoagulant drugs have proven to be effective for the prevention of thromboembolic events. World-wide, warfarin is the most prescribed drug. In Europe, acenocoumarol and phenprocoumon are also administered. Yet it has been proven that variant alleles of the VKORC1 and CYP2C9 genotypes influence the pha...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:2008-12-01 00:00:00
abstract::Megakaryocyte (MK)-derived miRNAs have been detected in platelets. Here, we analysed the expression of platelet and circulating miR-223, miR-26b, miR-126 and miR-140 that might be altered with their target mRNAs in type 2 diabetes mellitus (DM2). MiRNAs were isolated from leukocyte-depleted platelets and plasma sample...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH16-04-0322
更新日期:2017-02-28 00:00:00
abstract::Pharmacological prophylaxis for postoperative venous thromboembolism is generally restricted to the hospital stay. A high incidence of deep vein thrombosis (DVT) and pulmonary embolism presenting after hospital discharge has been reported and thus it has been claimed that pharmacological prophylaxis should be continue...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1995-10-01 00:00:00
abstract::Clotting factor VIII (fVIII)-inhibitory antibodies represent a major problem in the treatment of haemophilia A. To understand the inactivation mechanisms and to pave the way towards modifications of recombinant clotting factors that reduce their immunogenicity, the exact localization of immunodominant epitopes is requ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-07-0473
更新日期:2004-03-01 00:00:00
abstract:BACKGROUND:Patients undergoing surgery for cancer are at high risk for venous thromboembolism (VTE). Agents that selectively inhibit thrombin, such as dermatan sulphate, have potential for a favourable benefit-risk ratio in the prevention of this complication. METHODS:Patients scheduled for elective abdominal, thoraci...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1999-07-01 00:00:00
abstract::Aspirin prevents thrombotic events by inhibiting platelet cyclooxygenase-1 (COX-1), thus reducing thromboxane A2 formation and platelet aggregation. The C50T polymorphism of COX-1 is associated with an impaired inhibition of both thromboxane production and in-vitro platelet aggregation by aspirin. We studied whether t...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章
doi:10.1160/TH08-03-0172
更新日期:2008-07-01 00:00:00
abstract::We studied a murine monoclonal antibody (211 A6) to von Willebrand factor (vWF) with a view to investigating structure-relationship of plasma vWF. The specificity of this antibody has been substantiated by ELISA tests and indirect immunofluorescence. It reacts with purified vWF, normal plasma but not with plasma or pl...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1987-06-03 00:00:00
abstract::Much research in venous thrombotic diseases focuses on the acute thrombotic process such as anticoagulation and risk factors. Deep-vein thrombosis directly leads to post thrombotic syndrome, and this can cause significant patient disability. Little research has focused on the vein wall injury response to the thromboti...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH10-03-0183
更新日期:2010-10-01 00:00:00
abstract::Factor VIII inhibitors in mild haemophilia are uncommon and the management of such patients is controversial. The development of a persistently high responding F VIII inhibitor in a mild haemophiliac is reported and the behaviour of the inhibitor discussed in the context of the various therapeutic regimes employed for...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1984-08-31 00:00:00
abstract::The introduction of venography into patient care was a major advance because it was the first accurate method for the diagnosis of DVT. Compression ultrasound has since become the preferred test for patients with suspected DVT because, unlike venography, it is simple, non-invasive and widely available. Venography has ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH13-07-0562
更新日期:2014-01-01 00:00:00
abstract::A new immunoadsorbent-amidolytic assay (IAA) for the specific differential detection of two-chain urokinase-type plasminogen activator (tcu-PA) and its single-chain precursor (scu-PA) in cell culture supernatants has been developed. The assay combines the selectivity of immunoassays with the specificity of enzyme acti...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1986-12-15 00:00:00
abstract::The effects of etamsylate on human platelet aggregation and ATP release as well as on the arachidonate metabolism by the platelet have been studied. Etamsylate enhanced these platelet functions induced by arachidonic acid (AA), thromboxane A2, collagen and calcium ionophore A23187 but not those induced by ADP and epin...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1982-12-27 00:00:00
abstract::In this review the interaction between invasive human pathogens expressing plasmin(ogen) receptors and/or producing plasminogen activators with the human plasmin(ogen) system is described. Evidence is presented for multiple mechanisms by which human pathogens can acquire a surface bound form of plasmin that cannot be ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Preliminary evidence suggests that use of antipsychotic drugs is associated with an increased risk of venous thromboembolism. OBJECTIVE:To evaluate the relationship between antipsychotic or antidepressant drug use and venous thromboembolism among adults aged 65 years and older. DESIGN:Retrospective cohort ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2002-08-01 00:00:00
abstract::We have tried to offer a unifying hypothesis tying vessel wall narrowing in atherosclerotic plaques to plaque rupture and healing (Fig. 7). This hypothesis is supported by evidence that smooth muscle cells are capable of interacting with a fibrin clot, specifically contracting a fibrin clot, and that inhibition of coa...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1999-08-01 00:00:00
abstract::We analyzed the protein C gene (PROC) with the denaturing gradient gel electrophoresis (DGGE) scanning strategy in a series of 129 patients with suspected protein C (PC) deficiency (93 with low plasma PC levels and 36 with borderline level). At least one sequence variation was found in 104 of the 129 patients. Thirty-...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::In patients with atrial fibrillation (AF) undergoing coronary stent implantation, the optimal antithrombotic strategy is unclear. We evaluated whether use of oral anticoagulation (OAC) was associated with any benefit in morbidity or mortality in patients with AF, high risk of thromboembolism (TE) (CHA2DS2-VASC score ≥...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH13-04-0351
更新日期:2013-09-01 00:00:00
abstract::Using an in vitro model of clot lysis, the individual response to a pharmacological concentration of recombinant tissue plasminogen activator (rt-PA) and the influence on this response of the physiological variations of blood parameters known to interfere with the fibrinolytic/thrombolytic process were investigated in...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::The effect of selective activation of platelet prostaglandin (PG) E2 receptor subtype EP2 or EP4 on platelet aggregation remains to be determined. In platelets prepared from wild-type mice (WT platelets), high concentrations of PGE2 inhibited platelet aggregation induced by U-46619, a thromboxane receptor agonist. How...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH10-01-0043
更新日期:2010-10-01 00:00:00
abstract::Neonatal platelets are hypo-reactive to the tyrosine kinase-linked receptor agonist collagen. Here, we have investigated whether the hypo-responsiveness is related to altered levels of glycoprotein VI (GPVI) and integrin α2β1, or to defects in downstream signalling events by comparison to platelet activation by C-type...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1646924
更新日期:2018-06-01 00:00:00