Abstract：
:Indirect genetic diagnosis using polymorphic DNA markers can be useful in large-scale screening programs, which is technically simpler, more rapid and amenable. The main objective of this study was to test the informativeness of two common intragenic markers (TaqI and XmnI) in Iranian haemophilia B families to detect the carriers by using a strategy that would be accurate and informative, yet less expensive compared to direct mutation analysis. The efficacy of these sites has been examined in 50 unrelated Iranian haemophilia B families and 50 normal females. The method used was polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP), which is economical and the enzymes XmnI and TaqI are cheap enough to be accessible in most of laboratories in developing countries. Our results show that 25% of X-chromosomes had the restriction site for TaqI enzyme. The XmnI site was 21%. The heterozygosity rates for TaqI and XmnI polymorphisms were 37% and 38%, respectively. Using the two polymorphisms together, the informative rate reached 46%. Taking advantage of TaqI and XmnI polymorphisms, carrier detection was performed for seven females with unknown status in five haemophilia B families (including one large extended family) with positive history. Six of the girls were normal and one was haemophilia B carrier. Therefore, carrier detection might be possible for informative Iranian haemophilia B families in the familial cases. Additionally, similarities in term of heterozygosity rates for these two polymorphic sites were seen between some European and Iranian populations.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Ghandil P,Ghadiri A,Farhud D,Zeinali Sdoi
10.1016/j.thromres.2004.03.009subject
Has Abstractpub_date
2004-01-01 00:00:00pages
289-93issue
5eissn
0049-3848issn
1879-2472pii
S0049384804001574journal_volume
113pub_type
杂志文章abstract：INTRODUCTION:Inherited thrombophilia has been associated with unexplained recurrent pregnancy loss (RPL) and stillbirth. This thrombotic tendency can manifest as thrombotic lesions in the placenta, and may lead to abortion and stillbirth. The aim of our case-control study was to investigate the prevalence of FVL and FI...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2005.06.005
更新日期：2006-01-01 00:00:00
abstract：:Eicosapentaenoic acid (EPA) has been reported to have a potent anti-aggregatory activity and to be efficiently metabolized by 12-lipoxygenase, not by cyclooxygenase in platelets. In vitro effect of 12-lipoxygenase metabolites of EPA on platelet function was studied and compared with those of arachidonic acid (AA). The...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(86)90248-3
更新日期：1986-02-01 00:00:00
abstract：:Platelet and clotting abnormalities have been described in diabetes, but little is known about their relationship to daily stresses. In order to evaluate whether states of abnormal carbohydrate metabolism modify the hemostatic response to stress, 12 subjects with type I diabetes mellitus, 9 with type II, 7 with impair...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(88)90348-9
更新日期：1988-06-15 00:00:00
abstract：INTRODUCTION:This study aimed to determine the risk factors for subclinical umbilical catheter-related thrombosis (UCRT) and its association with clinical morbidities. MATERIALS AND METHODS:In infants without any symptoms associated with umbilical catheterization, the presence of thrombosis was monitored using abdomin...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2020.05.034
更新日期：2020-10-01 00:00:00
abstract：:The aim of this study was to compare the efficacy and safety of prolonged (35 days) thromboprophylaxis with a standard length (7 days) regimen of a low molecular weight heparin in patients undergoing total hip arthroplasty. The study was multicentre, randomised, double-blind, and prospective with two groups. Following...
journal_title：Thrombosis research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0049-3848(98)00018-8
更新日期：1998-03-15 00:00:00
abstract：OBJECTIVE:To date, only a few case studies have reported occurrence of thrombosis in patients with VonWillebrand disease (VWD). No studies have looked at its incidence in this patient population. The aim of this study was to test our hypothesis that decreased VonWillebrand factor (VWF) levels confer a protective effect...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2012.09.005
更新日期：2012-11-01 00:00:00
abstract：:Current therapies for treatment of hemophilia A involve infusion of factor VIII, but are ineffective for patients who develop inhibitory antibodies. We have previously proposed that bypassing the intrinsic pathway (VIIIa/IXa) with reversibly acylated factor Xa offers an improvement on existing therapies as it provides...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(97)00267-3
更新日期：1997-11-15 00:00:00
abstract：BACKGROUND:Thrombosis and complement activation are pathogenic features of antiphospholipid syndrome (APS). Their molecular link is Plasma carboxypeptidase-B, also known as thrombin activatable fibrinolysis inhibitor (TAFIa), which plays a dual role: anti-fibrinolytic, by cleaving carboxyl-terminal lysine residues from...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2017.06.028
更新日期：2017-10-01 00:00:00
abstract：:Porcine and human umbilical vein and adult blood vessels were studied for the presence and synthesis of factor VIII related antigen (VIIIR:Ag) and fibronectin (Fn) by immunofluorescence histology and immunoautoradiography. Investigation of human tissue confirmed the widespread distribution of VIIIR:Ag on the endotheli...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(83)90042-7
更新日期：1983-02-01 00:00:00
abstract：:Fibrinogen has been reported to interact with phospholipid; however, the properties of this binding interaction have not been characterized. Purified preparations of human fibrinogen bound to small unilamellar vesicles containing phosphatidylserine (PS) as measured by light scattering and radioisotope filtration. Bind...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(99)00058-4
更新日期：1999-09-15 00:00:00
abstract：INTRODUCTION:Circulating microparticles support thrombin generation. The aim of this study is to determine the indirect microparticle activity and the parameters of thrombin generation in healthy infants. MATERIALS AND METHODS:A total of 85 infants who were brought to follow-up visits were taken into the study. Blood ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2013.11.011
更新日期：2014-02-01 00:00:00
abstract：INTRODUCTION:Congenital factor V (FV) deficiency is a rare inherited disorder. Three compound heterozygous missense mutations, Asp68His, His147Arg, and Arg2074Cys, were observed in a Taiwanese patient with moderately severe FV deficiency. METHOD:The novel His147Arg mutation in the A1 domain was investigated by protein...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2014.04.005
更新日期：2014-07-01 00:00:00
abstract：:The incidence of thrombotic events is higher in neonates compared to children of other age groups. Perinatal and maternal risk factors, as well as the developing neonatal hemostatic system, are contributing factors in the higher rate of thrombosis in this pediatric population. This review summarizes the available lite...
journal_title：Thrombosis research
pub_type： 杂志文章,评审
doi：10.1016/j.thromres.2010.10.009
更新日期：2010-12-01 00:00:00
abstract：:Von Willebrand disease (VWD) is classified into three primary subtypes; type 1 includes partial quantitative deficiency, type 2 (A, B, M and N) includes qualitative defects and type 3 includes virtually complete deficiency of von Willebrand factor (VWF). Type 2A includes variants with decreased platelet adhesion cause...
journal_title：Thrombosis research
pub_type： 杂志文章,评审
doi：10.1016/j.thromres.2007.03.014
更新日期：2007-01-01 00:00:00
abstract：:Cross reactive antigens to factor VIII have been measured in a range of vertebrate phyla. VIII coagulant antigen (VIII:CAg) measured using a human antibody was in general, much lower than reported values of VIII coagulant activity (VIII:C) except in simians and the guinea pig. The dose response curve for the assay was...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(82)90132-3
更新日期：1982-03-01 00:00:00
abstract：INTRODUCTION:Different Klebsiella pneumoniae strains carry different virulence factors and antibiotic resistance and may cause thrombocytopenia. This study aimed to investigate the effects of different infections caused by K. pneumoniae on platelets. METHODS:Two hypermucoviscous K. pneumoniae strains and two classic s...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2018.09.053
更新日期：2018-11-01 00:00:00
abstract：:The influence of transmembrane Na+ and Ca2+ gradients on cytosolic pH (pHi) and free Ca2+ concentration ([Ca2+]i) have been examined in unstimulated human platelets with the aid of BCECF and Fura-2 fluorescent dyes. The removal of external Na+ (Na+o) acidified the cytosol in a pHo-dependent manner which was insensitiv...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(92)90233-z
更新日期：1992-01-15 00:00:00
abstract：:Clinical and epidemiological trials often involve central laboratory analyses of coagulation tests, including fibrinogen, which requires freezing of the plasma samples. Although rapid freezing by immersion of sample tubes in liquid nitrogen and storage at -70 degrees C is recommended, plasma samples are often transfer...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2008.11.010
更新日期：2009-05-01 00:00:00
abstract：:Heparanase is an endo-beta-D-glucuronidase capable of cleaving heparan sulfate (HS) side chains of heparan sulfate proteoglycans (HSPG) on cell surfaces and the extracellular matrix, activity that is strongly implicated in tumor metastasis and angiogenesis. Evidence was provided that heparanase over-expression in canc...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/S0049-3848(10)70018-9
更新日期：2010-04-01 00:00:00
abstract：:Plasma membranes of pig platelets were isolated and subjected to solubilization with digitonin. Binding of [3H]ketanserin to the solubilized membrane fraction, optimal at pH 7.5, was time and protein dependent and was greatly reduced by increasing ionic strength of the incubation buffer. Saturation analysis and inhibi...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(85)90253-1
更新日期：1985-09-15 00:00:00
abstract：:Two isozymes of a native form of human plasminogen (plg), Glu-plg I and II, were isolated. Glu-plg I or II was activated by urokinase (UK) or streptokinase (SK) in the presence of fibrinogen or fibrin. The activation of Glu-plg I was enhanced more than that of Glu-plg II in the presence of fibrin. Fibrin caused better...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(85)90224-5
更新日期：1985-08-01 00:00:00
abstract：INTRODUCTION:There is an exponential rise of thromboembolic risk with age because of co-morbidities, immobility and pharmacotherapy. We aimed to investigate the benefits and risks of heparin prophylaxis in very elderly patients ≥80 years and the type of heparin used in a subgroup analysis of the CERTIFY trial. PATIENT...
journal_title：Thrombosis research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.thromres.2011.05.002
更新日期：2011-11-01 00:00:00
abstract：:Enzymatic treatment used for passaging of endothelial cells may induce release of von Willebrand factor (vWF). Decreased ability to replenish intracellular stores results in decreased secretion of vWF in later passages of cells. Since both trypsin and pancreatin complex have been used for passaging endothelial cells, ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(00)00401-1
更新日期：2001-02-15 00:00:00
abstract：:Stimulation of rat platelets with U46619 induced Ca2+ mobilization and platelet shape change, but aggregation and secretion were induced when platelets were stimulated with U46619 plus phorbol 12-myristate 13-acetate (PMA). However, stimulation of rabbit platelets with U46619 induced all the three platelet responses. ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(89)90171-0
更新日期：1989-10-15 00:00:00
abstract：BACKGROUND:Serious bleeding is a frequent and feared treatment complication in patients treated with oral anticoagulants (OACs). Levels of von Willebrand factor (VWF) antigen have been linked to the risk of bleeding complications, mortality, and cardiovascular events. OBJECTIVES:In this longitudinal cohort study of ev...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2015.08.016
更新日期：2015-11-01 00:00:00
abstract：:Since the first description by Dahlbäck et al (1) of a hereditary defect in the plasma of three unrelated thrombophilic patients characterized by a poor anticoagulant response to activated protein C (APC), many reports have shown a high prevalence of the APC resistance in both the general and thrombophilic populations...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(97)00022-4
更新日期：1997-02-15 00:00:00
abstract：INTRODUCTION:In contrast to unfractionated heparin (UFH), use of low-molecular weight heparin (LMWH) during pregnancy has not been reported to be associated with a significant decrease in bone mineral density (BMD). The aim of this study was to investigate whether long-term use of LMWH during pregnancy is associated wi...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2016.05.016
更新日期：2016-07-01 00:00:00
abstract：INTRODUCTION:Only sparse information exists on the use of direct oral anticoagulant (DOAC) testing and the impact on clinical management. Here, we evaluated the clinical impact of DOAC measurements in a real-life clinical setting. Moreover, number of tests performed in relation to number of DOAC-treated patients was ev...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2019.01.016
更新日期：2019-03-01 00:00:00
abstract：:Low circulating protein C (PC) levels have been observed in sepsis, especially in patients with Neisseriae Meningitides infections. Poor clinical outcome and high limb amputation rates have been associated in infected patients with low circulating PC levels. Published studies using activated PC replacement therapy pat...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2014.04.019
更新日期：2014-07-01 00:00:00
abstract：INTRODUCTION:The kinetics of the thrombin inhibition by heparin cofactor II (HCII) and antithrombin (AT) have been studied as a function of the concentration of a dermatan sulfate (DS) from the skin of the ray Raja radula. MATERIALS AND METHODS:The initial concentrations of inhibitor (I), HCII or AT, and thrombin (E) ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2008.10.003
更新日期：2009-04-01 00:00:00
