Abstract:
:Inherited severe hypoplasminogenaemia is a multisystemic disorder leading to deficient extravascular fibrinolysis. As a clinical consequence wound healing capacity of mucous membranes is markedly impaired leading to ligneous conjunctivitis and several other manifestations. Here we report the molecular genetic and clinical findings on 23 new cases with severe hypoplasminogenaemia. Homozygous or compound-heterozygous mutations in the plasminogen (PLG) gene were found in 16 of 23 patients (70%), three of which were novel mutations reported here for the first time (C166Y, Y264S, IVS10-7T/G). Compared to 79 previously published cases, clinical manifestations of the current group of patients showed higher percentages of ligneous periodontitis, congenital hydrocephalus, and involvement of the female genital tract. In contrast, involvement of the gastrointestinal or urogenital tract was not observed in any of the cases. Patients originated to a large extent (61%) from Turkey and the Middle East, and showed a comparably frequent occurrence of consanguinity of affected families and a greater female to male ratio than was derived from previous reports in the literature. Individual treatment of ligneous conjunctivitis included topical plasminogen or heparin eye drops, topical or systemic fresh frozen plasma, and surgical removal of ligneous pseudomembranes, mostly with modest or transient efficacy. In conclusion, the present study underscores the broad range of clinical manifestations in PLG-deficient patients with a trend to regional differences. Transmission of genetic and clinical data to the recently established Plasminogen Deficiency Registry should help to determine the prevalence of the disease and to develop more efficient treatment strategies.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Klammt J,Kobelt L,Aktas D,Durak I,Gokbuget A,Hughes Q,Irkec M,Kurtulus I,Lapi E,Mechoulam H,Mendoza-Londono R,Palumbo JS,Steitzer H,Tabbara KF,Ozbek Z,Pucci N,Sotomayor T,Sturm M,Drogies T,Ziegler M,Schuster Vdoi
10.1160/TH10-04-0216subject
Has Abstractpub_date
2011-03-01 00:00:00pages
454-60issue
3eissn
0340-6245issn
2567-689Xpii
10-04-0216journal_volume
105pub_type
杂志文章abstract::Factor XI (FXI) plays a dual role in haemostasis and thrombosis. It contributes to thrombin generation and promotes inhibition of fibrinolysis. Severe FXI deficiency was shown to confer protection against arterial and venous thrombosis in animal models without compromising haemostasis. We have previously shown that pa...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH10-05-0307
更新日期:2011-02-01 00:00:00
abstract::Both the HEPTEST and amidolytic anti factor Xa assays are currently being used for heparin activity detection in plasma from patients receiving standard heparin or low molecular weight heparin (LMWH). In this study we have investigated the influence of recombinant and endogenous Tissue Factor Pathway Inhibitor (TFPI) ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1992-09-07 00:00:00
abstract::Bacteraemia and viraemia are characterised by pathogens entering the bloodstream. Endothelial cells are among the first cells coming into contact with the microbes and also some endogenous molecules which are released by tissue damage. As part of the innate immune system, endothelial cells respond to these contacts by...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH09-05-0323
更新日期:2009-12-01 00:00:00
abstract::The efficacy and safety of dabigatran for treatment of venous thromboembolism (VTE) were demonstrated in two trials. It is unclear if the results pertain to patients with cancer and VTE. Data from two randomised trials comparing dabigatran and warfarin for acute VTE were pooled. Primary efficacy outcome was symptomati...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH14-11-0977
更新日期:2015-07-01 00:00:00
abstract::Calibration of local standards for ristocetin cofactor activity of von Willebrand's factor (vWF:Rcof) against reference preparations is required to achieve a better standardization of this measurement. We have observed that in calibration assays (multiple line parallel bioassay) for vWF:Rcof, measured aggregometricall...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1987-12-18 00:00:00
abstract::It is known that thrombosis is a leading cause of vascular access failure and that the formation of thrombus requires platelets. The activation of platelets induces the increase in intracellular Ca 2(+) levels ([Ca(2+)](i)) leading to aggregation and thrombosis. We compared the platelet [Ca(2+)](i) before and after st...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-01-0048
更新日期:2004-09-01 00:00:00
abstract::Background Polycystic ovarian syndrome (PCOS) affects up to 18% of reproductive-aged women with increased risks of cardiovascular disease and venous thromboembolic disease, related to metabolic and hormonal features, obesity and an apparent hypofibrinolytic state, possibly exacerbated by current PCOS treatments. Objec...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH17-04-0248
更新日期:2017-11-01 00:00:00
abstract::Platelets play an important role in diseases such as cardiovascular disease and cancer, especially through their release of extracellular vesicles (EVs) and role in thrombosis. The effects of the anti-inflammatory drug colchicine on platelets are not well understood. We investigated the effect of colchicine on the rel...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1636915
更新日期:2018-04-01 00:00:00
abstract::Monocytes play a central role in the inflammatory disease atherosclerosis. CD14+CD16+ monocytes are considered proinflammatory monocytes, as they have an increased capacity to produce proinflammatory cytokines, such as TNF-alpha, and are elevated in various inflammatory diseases. We hypothesized that patients with cor...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-02-0095
更新日期:2004-08-01 00:00:00
abstract::A congenitally abnormal fibrinogen was isolated from blood of a young man with deep-vein thrombosis. Two other affected members of his family had three episodes of severe arterial thrombosis. The fibrinogen showed a delayed clotting by thrombin, but a normal clotting by Arvin, Reptilase, and prothrombin-staphylocoagul...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1986-02-28 00:00:00
abstract::The emergency management of ST-elevation myocardial infarction (STEMI) involves treatment with dual-antiplatelet therapy (DAPT) and primary percutaneous coronary intervention (PPCI). Pain is generally treated with opiates, which may delay gastric transit and reduce DAPT absorption. We sought to assess the effect of mo...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1629896
更新日期:2018-03-01 00:00:00
abstract::Multiple clinical trials have proven that thrombolytic therapy is an effective treatment for acute myocardial infarction. Spontaneous intracranial hemorrhage (ICH) occurs in a small percentage of patients as a result of the treatment. The etiology of the ICH is unknown and there is currently no established experimenta...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract::Developmental haemostasis is a concept, now universally accepted, introduced by Andrew et al. in the late 1980's. However, coagulation analysers and reagents have changed significantly over the past 15 years. Coagulation testing is known to be sensitive to changes in individual reagents and analysers. We hypothesised ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH05-01-0047
更新日期:2006-02-01 00:00:00
abstract::Thrombocytopenia and platelet dysfunction induced by extracorporeal blood circulation are thought to contribute to postsurgical bleeding complications in neonates undergoing cardiac surgery with cardiopulmonary bypass (CPB). In this study, we examined how changes in platelet function relate to changes in platelet coun...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0039-1700517
更新日期:2020-01-01 00:00:00
abstract::We have previously shown that both mental stress and administration of the muscarinic receptor agonist methacholine induce an acute release of tissue-type plasminogen activator (t-PA) across the human forearm. There are data indicating that the regulated acute release of t-PA from the endothelium is closely interrelat...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1990-06-28 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-11-01 00:00:00
abstract::Tissue factor (thromboplastin or Factor III), a glycoprotein cofactor, is required for Factor VII to express its catalytic activity, thereby initiating the extrinsic as well as intrinsic pathway of blood coagulation. Human brain tissue factor was purified 2,500-fold to 98% homogeneity from 2% Triton X-100 extraction o...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1988-06-16 00:00:00
abstract::The recombinant plasminogen activator BM 06.022 consists of the kringle 2 and the protease domains of human t-PA and is unglycosylated because of the expression in Escherichia coli. The thrombolytic and pharmacokinetic properties as well as the hemostasis effects of BM 06.022 were investigated in the rabbit model of j...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1991-05-06 00:00:00
abstract::Factor Xa (fXa)-inhibitors are as effective and safer than vitamin-K-antagonists (VKA) in the treatment of venous thromboembolism (VTE). We previously classified the severity of clinical presentation and course of all major bleeding events from the EINSTEIN, AMPLIFY and HOKUSAI-VTE trials separately. The current aim w...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH16-12-0946
更新日期:2017-10-01 00:00:00
abstract::The inhibitory capacity of antithrombin III (AT III) was measured by a quantitative method independent of the velocity of inhibition. When AT III was in excess of thrombin in plasma or in purified system the capacity of inhibitor decreased quantitatively in proportion to the amount of thrombin neutralized. Heparin pre...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1977-08-31 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH05-03-0158
更新日期:2005-12-01 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2007-10-01 00:00:00
abstract::In order to assess the value of I.P.G. for the diagnosis of D.V.T. in general practice, an I.P.G. was carried out by a skilled technician in 255 consecutive patients with suspected D.V.T. at home. Ascending venography was carried out in 185 of these patients. In addition, blood for assay of AT III, platelet count, fib...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1982-12-27 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1979-08-31 00:00:00
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journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract::The physiologic activation of the plasma kallikrein-kinin system requires the assembly of its constituents on a cell membrane. High- molecular-weight kininogen (HK) and cleaved HK (HKa) both interact with at least three endothelial cell binding proteins: urokinase plasminogen activator receptor (uPAR), globular C1q re...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH10-09-0591
更新日期:2011-06-01 00:00:00
abstract::Fibrin(ogen) is the major matrix ligand for beta3 integrins. If alpha(v)beta3 is the major receptor for fibrin(ogen) on intimal smooth muscle cells, we might expect to see this integrin associated with fibrin(ogen). Eighty-four specimens obtained from endarterectomies of 14 patients were studied. Fibrin was frequently...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract::The standard treatment of deep vein thrombosis is given by continuous intravenous infusion of unfractionated heparin. This entails hospitalisation, nursing care, immobility and repeated laboratory tests (e.g. activated partial thromboplastin time [APTT], platelet count). In addition approximately 10% of patients suffe...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:1991-03-04 00:00:00
abstract::Carboxypeptidase U (CPU, CPB2, TAFIa) is a basic carboxypeptidase that is able to attenuate fibrinolysis. The inactive precursor procarboxypeptidase U is converted to its active form by thrombin, the thrombin-thrombomodulin complex or plasmin. The aim of this study was to investigate and characterise the time course o...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH17-02-0097
更新日期:2017-07-26 00:00:00