Abstract:
:We performed a DNA analysis on a patient with severe type I factor VII deficiency by the polymerase chain reaction amplification and a direct DNA sequencing method. The proband was a 66-year-old Japanese woman who had recurrent episodes of excessive bleeding after dental extraction. The functional and antigenic levels of plasma factor VII markedly reduced to 1.6% and 2% of normal, respectively. However, she had no serious symptoms such as intracranial or intraarticular hemorrhage. The analysis revealed that the patient was homozygous for a missense mutation, Thr (ACG) to Met (ATG) at codon 359 in the catalytic domain. Her deceased parents were first cousins, and their consanguineous marriage presumably resulted in the homozygosity in her. This patient was the first case of homozygote for the Thr359Met mutation, though heterozygotes for the mutation were previously found in an Italian family.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Ozawa T,Niiya K,Higuchi W,Sakuragawa Nsubject
Has Abstractpub_date
1997-09-01 00:00:00pages
987-9issue
3eissn
0340-6245issn
2567-689Xjournal_volume
78pub_type
杂志文章abstract::There are conflicting views on the effects of age, gene source and familial severity on levels of factor VIII in carriers of haemophilia. Different workers have found that factor VIII increases with age, is higher in paternal carriers, and is higher in carriers from families with more severe haemophilia. Other workers...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1983-10-31 00:00:00
abstract::The GAS6/ProS-TAM system is composed of two vitamin K-dependent ligands (GAS6 and protein S) and their three protein tyrosine kinase receptors TYRO3, AXL and MERTK, known as the TAM receptors. The system plays a prominent role in conditions of injury, inflammation and repair. In murine models of atherosclerotic plaque...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH10-10-0630
更新日期:2011-05-01 00:00:00
abstract::Congenital afibrinogenemia and severe hypofibrinogenemia are severe bleeding disorders characterized by either undetectable or very low levels of fibrinogen in patients' plasma and platelets. A majority of the reported cases are caused by mutations in the fibrinogen Aalpha chain. In this study, we identified a genetic...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH06-01-0020
更新日期:2006-06-01 00:00:00
abstract::Platelet-leukocyte interactions are recognised to have pro-inflammatory effects, which may be important in the pathophysiology of ischaemic heart disease. Clopidogrel and the novel intravenous antithrombotic agent AR-C69931MX act at the level of the platelet P2Y12 receptor, which is known to amplify platelet activatio...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract::Venous thromboembolism, which encompasses deep-vein thrombosis and acute pulmonary embolism (PE), represents a major contributor to global disease burden worldwide. For patients who present with cardiogenic shock or persistent hypotension (acute high-risk PE), there is consensus that immediate reperfusion treatment ap...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH14-11-0998
更新日期:2015-06-01 00:00:00
abstract::Elucidation of the pathophysiological basis of platelet disorders in murine models requires a reliable method for the frequent determinations of platelet counts in individual mice. Here, we present a rapid, reproducible and accurate flow cytometric method for enumeration of platelets that involves fluorescent staining...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2001-08-01 00:00:00
abstract::The vast clinical research programme for the direct, oral factor Xa inhibitor rivaroxaban has generated a wealth of data since the first rivaroxaban approval in 2008 for the prevention of venous thromboembolism (VTE) in patients undergoing elective hip or knee replacement surgery. While rivaroxaban is widely used acro...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH16-06-0484
更新日期:2016-09-28 00:00:00
abstract::Duplex ultrasound is the first-line diagnostic test for detecting lower limb deep-vein thrombosis (DVT) but it is time consuming, requires patient transport, and cannot be interpreted by most physicians. The accuracy of emergency physician-performed ultrasound (EPPU) for the diagnosis of DVT, when performed at the bed...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,meta分析,评审
doi:10.1160/TH12-07-0473
更新日期:2013-01-01 00:00:00
abstract::Atherosclerotic plaque rupture may trigger the formation of mural thrombus. This thrombus formation is apparently affected by very high and complex shear conditions introduced by the luminal narrowing (stenosis) of the atheroma. To study the impact of such blood flow behaviour on thrombus formation we employed a model...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-04-01 00:00:00
abstract::The cellular phospholipid, lysophosphatidic acid (LPA), released by activated platelets and fibroblasts or, at high levels, from ovarian and cervical carcinomas is a powerful serum mitogen that may modulate several signaling pathways in endothelial cells (EC). Hence, LPA could function in a paracrine manner during EC-...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::We compared the antithrombotic and hemorrhagic effects of naturally existing human urinary soluble thrombomodulin (MR-33) with those of low molecular weight heparin (LMW-heparin) in rats. In in vitro experiments, MR-33 prolonged APTT in a dose-dependent fashion; its effect in this respect was as potent as that of LMW-...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Inherited and acquired thrombophilia are associated with recurrent pregnancy loss. Recently, an increased risk for thromboembolic disease was described for patients with elevated coagulation factor VIII, but it is unknown whether there is also an association to early pregnancy loss. We therefore evaluated the relation...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-09-0554
更新日期:2004-04-01 00:00:00
abstract::A procedure for using citrated fresh plasmas for International Sensitivity Index (ISI) calibration of two types of whole blood point-of-care test (POCT) prothrombin time (PT) monitor systems has been assessed in a multicentre study. The CoaguChek Mini and TAS PT-NC systems gave higher ISI with whole blood samples than...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND: Clinical effectiveness of recombinant human soluble thrombomodulin (rhTM) in sepsis or sepsis-induced coagulopathy remains a matter of dispute. Recently, the Sepsis Coagulopathy Asahi Recombinant LEThrombomodulin (SCARLET) trial, the latest multinational multi-centre phase III randomized controlled trial, w...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,meta分析
doi:10.1055/s-0038-1676345
更新日期:2019-01-01 00:00:00
abstract::The incidence of newly diagnosed malignancy is increased in patients with unexplained venous thromboembolism during the first year after a thromboembolic event in comparison to controls (odds ratio, 3.9-36). Extensive screening with computed tomography, endoscopy and tumor markers can identify most of these undetected...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1997-07-01 00:00:00
abstract::Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. This complex is composed of four subunits, GPIbalpha, GPIbbeta, GPIX and GPV. We describe here the genet...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract::In patients with myeloproliferative disorders (MPD) a group of related diseases of the bone marrow stem cell and recurrent haemorrhagic and/or thrombotic complications, the production of aggregating prostaglandins (PGs) may be normal or slightly reduced, while PGI2 production is normal. However, MPD platelet sensitivi...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1988-02-25 00:00:00
abstract::The correlation between homocysteine and vascular disease has been assessed in several clinical studies that demonstrated that elevation of plasma total homocysteine (tHcy) was an independent risk factor for atheriosclerotic disease. Major advances of homocysteine metabolism disorders have been made during the last fe...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH09-06-0393
更新日期:2010-05-01 00:00:00
abstract::Few data are available on thrombophilic risk factors and progression of atherosclerotic peripheral arterial disease (PAD). Thrombophilic alterations can be an aggravating factor when arterial stenoses are present. In a cross-sectional study, we evaluated the presence of the thrombophilic factors fibrinogen, homocystei...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH09-11-0772
更新日期:2010-07-01 00:00:00
abstract::Although intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) play a relevant role in atherosclerosis, little is known about the prognostic impact of their soluble forms (s) in patients with peripheral arterial disease (PAD). The aim of this prospective study was to verify whether ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-07-0440
更新日期:2005-03-01 00:00:00
abstract::The binding of the urokinase plasminogen activator (uPA) to its receptor (uPAR) regulates cell adhesion, surface proteolysis, chemotaxis and cell extravasation in a number of experimental systems. Recent evidences have suggested that uPAR can by itself mediate chemotaxis of human monocytes and cause profound changes i...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1999-09-01 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::Findings from a recent study suggest that earlier start of treatment with factor VIII in patients with severe hemophilia is associated with a higher risk to develop inhibitors. We set out to assess the association between age of first administration of clotting factor VIII and the risk to develop inhibitors in infants...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract::Severe factor XI (FXI) deficiency is a bleeding disorder generally inherited as an autosomal recessive trait and characterized by haemorrhagic symptoms mainly associated with injury or surgery. So far, more than 150 causative molecular defects have been identified throughout the F11 gene. In the present study, we inve...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH07-12-0723
更新日期:2008-03-01 00:00:00
abstract::Previous studies have shown an association between serum C-reactive protein (CRP) and cardiovascular disease (CVD) risk. The roles of interleukin-6 (IL-6) and tumor necrosis factor alpha (TNFalpha) are less well established. The aim of the present study was to analyze the associations of CRP, IL-6 and TNFalpha with in...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH05-08-0571
更新日期:2006-03-01 00:00:00
abstract::A factor VIII inhibitor has been found in a patient with an unusual combination of factor VIII-related properties. The inhibitor is directed specifically against the clotting activity (VIII:C) of the factor VIII complex. It behaves in a similar fashion to high responding inhibitors of factor VIII seen in haemophilia A...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1986-04-30 00:00:00
abstract::This study assessed the frequency and factors associated with failure to correct international normalised ratio (INR) in patients administered fresh frozen plasma (FFP) for warfarin-related major bleeding. This retrospective database analysis used electronic health records from an integrated health system. Patients wh...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH11-09-0646
更新日期:2012-04-01 00:00:00
abstract::Arterial stenosis results in a complex pattern of blood flow containing an extremely fast flow in the throat of stenosis and a post-stenosis low flow. The fast flow generates high shear stress that has been demonstrated in vitro to activate and aggregate platelets. One potential problem of these in vitro studies is th...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract::Fibrinolytic therapy can result in rapid lysis of deep vein thrombi (DVT), but its use is limited by the failure of many patients to respond and by the increased risk of bleeding complications in comparison with anticoagulant therapy alone. Treatment could be improved by the ability to select patients most likely to r...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract::Intraluminal thrombus formation in aortic abdominal aneurysms (AAA) is associated with adverse clinical prognosis. Interplay between coagulation and inflammation, characterised by leukocyte infiltration and cytokine production, has been implicated in AAA thrombus formation. We studied leukocyte (CD45+) content by flow...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH12-05-0339
更新日期:2012-11-01 00:00:00