Abstract:
:Individuals with more than one defect in the natural anticoagulant system exhibit an increased risk for thrombosis. We report on a family with two cases of combined protein C (PROC) and protein S (PROS) deficiency, five cases of isolated PROC deficiency Type I, and two cases of isolated PROS deficiency Type I. PROC and PROS deficiency were documented by functional and immunologic tests. The sequencing of all exons and splice junctions of the PROC gene led to the identification of a new, unpublished G-->A transition at nt 8490, leading to an exchange of alanine 259 by threonine. The mutation was present in all family members with PROC deficiency. The carriers of the isolated PROC mutation were asymptomatic at ages of 4, 7, 10, 11, and 80 years. The combination of the PROC mutation with a PROS deficiency in two family members triggered venous thromboembolism at age 31 and 6 years, respectively. The PROS deficiency was associated with complete exclusion of one PROS allele. Two family members with isolated PROS deficiency are still asymptomatic at age 21 and 9 years, respectively. Our findings in this family suggest that the heterozygous mutation at codon 259 of the PROC gene represents a mild thrombotic risk factor and only confers a high thrombotic risk in combination with a second defect, such as the complete exclusion of one PROS allele.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Knoll B,Hach-Wunderle V,Rieger S,Häring D,Mannhalter Cdoi
10.1016/s0049-3848(01)00232-8subject
Has Abstractpub_date
2001-07-01 00:00:00pages
3-8issue
1eissn
0049-3848issn
1879-2472pii
S0049-3848(01)00232-8journal_volume
103pub_type
杂志文章abstract::The placental transfer of Org 10172, a low-molecular weight heparinoid, was determined in 12 awake late-pregnant guinea pigs. Nine animals receiving placebo served as controls. After 5 days i.v. treatment with Org 10172 (2 x 300 anti-Xa U/kg/day), anti-Xa activity in fetal plasma amounted to 2.4% of the maternal conce...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(86)90002-2
更新日期:1986-11-01 00:00:00
abstract::Previous studies indicated that human placental anticoagulant protein, a member of the lipocortin family, prolonged the clotting time of normal plasma when clotting was induced by brain thromboplastin or by kaolin in the presence of cephalin and calcium. Using a two-stage amidolytic assay to assess factor X activation...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90402-6
更新日期:1987-11-15 00:00:00
abstract::An issue of great importance and continuing concern with regard to all products derived from human plasma is their safety from potential contaminants in the source material from which they are purified. Since viral contaminants are a major safety consideration with these products, a number of different methods, includ...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/s0049-3848(02)00044-0
更新日期:2002-03-01 00:00:00
abstract::To determine whether homocysteine, a risk factor for possible endothelial cell dysfunction, procoagulant effects and premature vascular disease but with a potential nutritional role for fetal and neonatal metabolism and development, is elevated in women at time of elective caesarean section with nitrous oxide general ...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章
doi:10.1016/j.thromres.2003.11.004
更新日期:2003-01-01 00:00:00
abstract::Heparin cofactor II (HCII) is a specific thrombin inhibitor; its inhibitory activity is stimulated by heparin (Hep) and dermatan sulfate (DS). Vitronectin (VN), a heparin binding adhesive glycoprotein present in plasma and extracellular matrix, has been shown to decrease the stimulatory effect of Hep but not of DS on ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(92)90310-7
更新日期:1992-06-01 00:00:00
abstract::Heat treatment is employed to diminish the transmission of hepatitis when blood products are administered. It is possible that such a procedure could reduce the biological activity of the proteins and induce changes in structure and aggregation state. We have therefore made in vitro and pharmacokinetic studies of heat...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90435-x
更新日期:1987-12-15 00:00:00
abstract::Selected coagulation and fibrinolytic parameters were assessed in 40 insulin dependent diabetes mellitus patients with varying degrees of metabolic control; 30 healthy subjects matched for age and sex formed the control group. Activated Partial Thromboplastin Time, Prothrombin Time, Fibrinogen, Factor VII, Antithrombi...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(92)90068-l
更新日期:1992-09-15 00:00:00
abstract:INTRODUCTION:The outstanding importance of (soluble) CD40L to cardiovascular disease (CVD) is becoming increasingly apparent as CD40L is an important mediator of thrombotic and inflammatory processes. Platelets are the main source for CD40 ligand, linking platelet stimulatory events to inflammation and adverse adaptive...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2012.04.017
更新日期:2012-09-01 00:00:00
abstract:INTRODUCTION:A close association exists between oral health and cardiovascular disease. Periodontal disease induces early vascular changes while oral pathogens have been detected in sub gingival and atheromatous plaques. We examined the interrelationship between Periodontal disease, oral bacteria, surrogate sub-clinica...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.04.023
更新日期:2013-07-01 00:00:00
abstract:INTRODUCTION:Following the Fontan procedure, children require lifelong anticoagulant therapy to minimise the risk of thrombosis. Factors influencing the management of warfarin therapy in children post-Fontan procedure are poorly understood. This study investigated factors affecting warfarin therapy stability and time t...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.01.018
更新日期:2013-04-01 00:00:00
abstract::Dextran sulfate and polybrene were immobilized on polypropylene tubes with plastic adhesive. Serum albumin was also immobilized on the tube by heat-denaturation. In the those tubes thrombin was protected from inactivation in the presence of 0.1 M NaCl remarkably. Cholesterol coated on the tube also protected the enzym...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(88)90277-0
更新日期:1988-07-01 00:00:00
abstract::Eight patients with femoro-popliteal or sural DVT, confirmed by phlebography, were treated with intravenous Desmin (LMW-dermatan sulphate): on the first day, after an initial i.v. injection of 400 mg, all patients received an infusion of 800 mg in 500 ml of saline, during 24 hours; this infusion was repeated in each o...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章
doi:10.1016/s0049-3848(96)00207-1
更新日期:1996-12-15 00:00:00
abstract::Whole blood electrical aggregometry (WBEA) has become an accepted method to gain quick information on platelet disorders. Compared to the optical method WBEA is closer to physiology and less complicated, but on the other hand more difficult to standardize. Different approaches have been attempted in the past to improv...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(90)90232-2
更新日期:1990-12-15 00:00:00
abstract::Endothelial cells synthesize and release different proteins involved in their function, and some of these proteins may play important roles in the cellular response to injury, infection, or glucocorticoids. We have examined the profile of proteins released from rabbit coronary microvascular endothelial (RCME) and huma...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(90)90202-n
更新日期:1990-01-01 00:00:00
abstract::An insertion/deletion (4G/5G) polymorphism in what has been shown to be an enhancer/repressor binding site in the promoter region of the PAI-1 gene has been related to plasma PAI-1 activity. Transfection studies demonstrated increased interleukin-1 stimulated PAI-1 synthesis in cells containing the 4G sequence. To stu...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(98)00132-7
更新日期:1998-12-01 00:00:00
abstract::The effects of hydrogen peroxide on factor Xa-catalyzed prothrombin activation on the surface of vascular endothelial cells, and the inhibitory effect of sphingosine on prothrombin activation were studied in cultured calf pulmonary artery endothelial cells (CPAEC). Hydrogen peroxide enhanced factor Xa-catalyzed prothr...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(92)90263-a
更新日期:1992-07-01 00:00:00
abstract::Ethamsylate possesses antihemorrhagic properties, but whether or not it directly activates blood platelets is unclear. Here we investigated the platelet activation potential of ethamsylate, by measuring membrane P-selectin expression with flow cytometry in human whole blood and also by immunofluorescence imaging of is...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(02)00353-5
更新日期:2002-09-15 00:00:00
abstract:INTRODUCTION:We conducted this prospective study in order to investigate the hypotheses that an alternative pathway for fibrinolysis is activated in patients who have undergone cardiopulmonary bypass (CPB) surgery and major abdominal surgery and that the levels of fibrin degradation products digested by polymorphonucle...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章
doi:10.1016/j.thromres.2006.07.009
更新日期:2007-01-01 00:00:00
abstract::Endothelial cells from human umbilical vein were incubated in vitro with thrombin in the absence or presence of unfractionated heparin (UFH), low molecular weight heparin (LMWH) or dermatan sulfate (DS) to clarify the effect of these glycosaminoglycans on thrombin-stimulated prostaglandin I2 (PGI2) production. Althoug...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(90)90065-k
更新日期:1990-02-15 00:00:00
abstract:BACKGROUND:The AMPLIFY trial found significantly lower major bleeding (MB) and similar recurrent venous thromboembolism (VTE) risks associated with apixaban vs warfarin among patients with VTE. OBJECTIVES:To compare MB, clinically-relevant non-major (CRNM) bleeding, and recurrent VTE risks among clinically-relevant su...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2020.11.039
更新日期:2020-12-08 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::Cathepsin A-like enzyme released from human platelets by thrombin hydrolyzed at the highest rate Cbz-Phe-Ala, Cbz-Phe-Met and Cbz-Phe-Leu, did not require activators and was inhibited by DFP, DCI and mercurial compounds (mersalyl acid, PCMS, PCMB and HgCl2). The optimum activity of secreted enzyme was at pH 5.0-6.0. C...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(97)00084-4
更新日期:1997-06-01 00:00:00
abstract:INTRODUCTION:Dermatan sulfate, a sulfated glycosaminoglycan, acts as an anticoagulant by accelerating the inhibition of thrombin by heparin cofactor II. MATERIALS AND METHODS:A low molecular mass dermatan sulfate was obtained by peroxy-radical depolymerization from a parent dermatan sulfate. Chemical characterization ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2007.09.001
更新日期:2008-01-01 00:00:00
abstract::Venous thromboembolism remains an important cause of maternal mortality. For women at risk during pregnancy, the recommended venous thromboembolismprophylaxis is unfractionated heparin. Low molecular weight heparins, such as dalteparin, also may be suitable, but randomised trials have not been performed. Pregnant wome...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0049-3848(99)00110-3
更新日期:1999-11-15 00:00:00
abstract::Seven peptides were synthesized to analyze the mechanism of the intramolecular binding of the N-terminal peptide of Glu-plasminogen (Glu-plg) to its kringles. They were Ala44-Lys50, Ala44-Glu51, Ala44-Ser49, Val17-Gly23, Lys19-Gly23, Lys19-Gln21 and Lys19-Lys20. Ala44-Lys50, Ala44-Glu51 and Lys19-Lys20.enhanced the ac...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(93)90156-i
更新日期:1993-04-15 00:00:00
abstract:BACKGROUND:Acquired von Willebrand Syndrome is a rare bleeding disorder, which arises in individuals with no personal or family history of bleeding, associated with lymphoproliferative and myeloproliferative disorders or other diseases. AIM:To develop a two-step approach assay to detect autoantibodies against VWF and ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2014.09.020
更新日期:2014-12-01 00:00:00
abstract:INTRODUCTION:Endothelium-derived nitric oxide (NO) is synthesized from l-arginine by endothelial nitric oxide synthase (eNOS) encoded by the eNOS3 gene on chromosome 7. The effects of the eNOS polymorphisms with the risk of coronary artery disease are conflicting. In this study, we investigated the association of the e...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2006.06.005
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Lung cancer is the leading cause of cancer-related death worldwide. Small cell lung cancer (SCLC) is thereby a highly aggressive neuroendocrine carcinoma representing about 15% of all lung cancer cases. Due to the highly metastatic behavior and multidrug resistance, the long-term survival of patients is ve...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/S0049-3848(16)30166-9
更新日期:2016-04-01 00:00:00
abstract::Reproducible disseminated intravascular coagulation in rabbits was provoked by two intravenous injections 24 hours apart of endotoxin from Salmonella enteritidis. There were mild symptoms of DIC before the second injection which considerably increased thereafter. In detail there was a sharp drop of the platelet count ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(93)90029-n
更新日期:1993-02-01 00:00:00
abstract:INTRODUCTION:Warfarin is the most widely prescribed vitamin K antagonist and in the United States and Europe more than 10 million people are currently in long-term oral anticoagulant treatment. This study aims to retrospectively validate a dynamic statistical model providing dosage suggestions to patients in warfarin t...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.12.042
更新日期:2014-03-01 00:00:00