Inherited thrombotic thrombocytopenic purpura in children.

Abstract:

:Congenital thrombotic thrombocytopenic purpura (TTP) or Upshaw-Schulman syndrome is caused by homozygous or compound heterozygous mutations in the ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) gene. We investigated 30 patients with congenital TTP and analyzed clinical data and underlying ADAMTS-13 mutations. All patients showed virtually no ADAMTS-13 activity in plasma. Individual disease burden ranged from mild courses with rare episodes of mild thrombocytopenia to severe courses with chronic kidney disease and central nervous system (CNS) lesions. Two patients died due to complications of TTP. If initiated in a timely manner, plasma transfusions offer a reliable treatment to prevent organ damage. We identified 30 different causative mutations in the ADAMTS-13 gene. Our data do not support the idea of a tight correlation between ADAMTS-13 genotype and severity of disease. The type and magnitude of exogenous triggers for acute bouts of TTP as well as endogenous individual factors participating in the inflammatory response likely represent the foremost determinants of individual clinical courses. Future developments should aim at improving early diagnosis of TTP. To improve feasibility of prophylaxis and treatment of congenital TTP, recombinant ADAMTS-13 therapeutics are highly anticipated.

journal_name

Semin Thromb Hemost

authors

Hassenpflug WA,Budde U,Schneppenheim S,Schneppenheim R

doi

10.1055/s-0034-1376152

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

487-92

issue

4

eissn

0094-6176

issn

1098-9064

journal_volume

40

pub_type

杂志文章
  • A consensus approach to the formulation of guidelines for laboratory testing and reporting of antiphospholipid antibody assays.

    abstract::Despite numerous past and ongoing efforts, there remains significant variation in results from assays for the major antiphospholipid antibodies (aPL), namely anticardiolipin (aCL), anti-beta2 glycoprotein I (anti-beta2GPI), and lupus anticoagulant (LA). There is therefore a need to produce comprehensive guidelines on ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0028-1085479

    authors: Wong RC,Favaloro EJ

    更新日期:2008-06-01 00:00:00

  • Experimental and clinical validation of the prophylactic antithrombotic effects of a low molecular weight heparin (enoxaparin).

    abstract::Several LMWHs are currently available for commercial use. The development status of each of these products in the area of prophylaxis, therapeutics, and other indications is given in Table 4. Enoxaparin and Fraxiparin appear to be the most developed LMWHs in both the surgical and medical areas. Many well-designed clin...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:

    authors: Fareed J,Walenga JM,Hoppensteadt D,Borris LC,Lassen MR

    更新日期:1991-01-01 00:00:00

  • Mechanisms linking tumor cell-associated procoagulant function to tumor dissemination.

    abstract::There is a persuasive body of evidence suggesting that tissue factor (TF) is a major determinant of tumor progression. In addition to its "traditional" function as the initiator of hemostasis, TF may support tumor progression through signaling mechanisms involving either direct signal transduction through the TF cytop...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1079255

    authors: Palumbo JS

    更新日期:2008-03-01 00:00:00

  • Biochemical studies on sulfated lactobionic acid amides.

    abstract::A series of sulfated bis-lactobionic acid amides was prepared. The compounds comprise highly charged poly-anions of very low molecular weight. Usually, the compounds contain 16 sulfate groups per molecule and are homogeneous, monodisperse substances. The molecular weights range from 2388 to 2514. The compounds were ev...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:

    authors: Klauser RJ,Meinetsberger E,Raake W

    更新日期:1991-01-01 00:00:00

  • Vitamin K-Dependent Protein S: Beyond the Protein C Pathway.

    abstract::Protein S is a vitamin K-dependent plasma glycoprotein circulating in plasma at a concentration of around 350 nM. Approximately 60% of protein S in human plasma is bound to the complement regulatory protein C4b-binding protein (C4BP) in a high-affinity, high-molecular-weight complex. Protein S in plasma has multiple a...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0037-1604092

    authors: Dahlbäck B

    更新日期:2018-03-01 00:00:00

  • Comprehensive Assessment of the Hemostatic System in Polycystic Ovarian Syndrome.

    abstract::Polycystic ovarian syndrome (PCOS) affects 12 to 19% of women and has reproductive and metabolic features (endothelial dysfunction, increased diabetes, and cardiovascular risk factors). It also appears to have altered coagulation and fibrinolysis with a prothrombotic state with epidemiological evidence of increased ve...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-0035-1564837

    authors: Burchall GF,Piva TJ,Linden MD,Gibson-Helm ME,Ranasinha S,Teede HJ

    更新日期:2016-02-01 00:00:00

  • Using Artificial Intelligence to Manage Thrombosis Research, Diagnosis, and Clinical Management.

    abstract::Thrombosis development in either arterial or venous system remains a major cause of death and disability worldwide. This poorly controlled in vivo clotting could result in many severe complications including myocardial infarction, venous thromboembolism, stroke, and cerebral venous thrombosis, to name a few. These con...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0039-1697949

    authors: Mishra A,Ashraf MZ

    更新日期:2020-06-01 00:00:00

  • Occurrence of AIDS in hemophiliacs in Japan.

    abstract::This report describes the first two Japanese cases of AIDS developed in patients with hemophilia. One was a 48-year-old man with hemophilia B and the other was a 62-year-old patient with hemophilia A. They had nonspecific prodromal syndromes of AIDS initially, and later developed fatal opportunistic infections with Ca...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-2007-1004393

    authors: Abe T,Kazama M,Kinoshita T,Matuda J,Yoshimura Y,Ryu T,Takahashi I

    更新日期:1985-10-01 00:00:00

  • Laboratory Testing for von Willebrand Disease: The Past, Present, and Future State of Play for von Willebrand Factor Assays that Measure Platelet Binding Activity, with or without Ristocetin.

    abstract::von Willebrand disease (VWD) was first described nearly a century ago in 1924 by Erik Adolf von Willebrand. Diagnostic testing at the time was very limited and it was not until the mid to late 1900s that more tests became available to assist with the diagnosis and classification of VWD. Two of these tests are based on...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0036-1592164

    authors: Just S

    更新日期:2017-02-01 00:00:00

  • Bleeding Scores for the Diagnosis of von Willebrand Disease.

    abstract::Obtaining a personal history of bleeding is a critical component to the diagnosis of von Willebrand disease (VWD). The collection of this information can be challenging for physicians, however, as the reporting and interpretation of bleeding symptoms is subjective. The need for more precise quantification of bleeding ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1597289

    authors: Bowman ML,James PD

    更新日期:2017-07-01 00:00:00

  • The Fibrinolytic Status in Liver Diseases.

    abstract::The liver is the main site of synthesis and/or clearance of proteins involved in fibrinolysis. Therefore, chronic liver disease, including cirrhosis, leads to altered plasma levels of fibrinolytic proteins. Historical studies using in vitro clot lysis assays suggested that patients with chronic liver disease had accel...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0035-1550437

    authors: Leebeek FW,Rijken DC

    更新日期:2015-07-01 00:00:00

  • Seminal vesicle protein IV and its derived active peptides: a possible physiological role in seminal clotting.

    abstract::Seminal vesicle protein 4 (SV-IV) is a highly flexible molecule that in aqueous solution behaves as a concentration-dependent self-associating system in which the degree of association (monomer <--> dimer <--> trimer equilibrium) seems to be related to its biological activities. This review reports the functional role...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2006-958462

    authors: Metafora S,Esposito C,Caputo I,Lepretti M,Cassese D,Dicitore A,Ferranti P,Stiuso P

    更新日期:2007-02-01 00:00:00

  • Transabdominal measurement of oxygenation of the placenta by near-infrared spectroscopy.

    abstract::Near-infrared spectroscopy (NIRS) has been used as a noninvasive method for monitoring the real-time oxygenation status in areas such as the brain and striated muscle. Because the oxygenation status of the placenta is closely related to the fetal condition, monitoring placental oxygenation through the maternal abdomen...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-2005-872435

    authors: Kakogawa J,Sumimoto K,Ho E,Kanayama N

    更新日期:2005-06-01 00:00:00

  • Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease.

    abstract::Platelet-type von Willebrand disease (PT-VWD) and type 2B von Willebrand disease (2B-VWD) are rare bleeding disorders characterized by increased ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. Diagnosis of either condition is not easy and the differential diagnosis between the two e...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0033-1364183

    authors: Woods AI,Sanchez-Luceros A,Bermejo E,Paiva J,Alberto MF,Grosso SH,Kempfer AC,Lazzari MA

    更新日期:2014-03-01 00:00:00

  • Disseminated Intravascular Coagulation in Cancer: An Update.

    abstract::Cancer often leads to the activation of coagulation, manifesting as disseminated intravascular coagulation (DIC) in its most extreme form. DIC is characterized by systemic intravascular coagulation activation (leading to deposition of intravascular platelets and fibrin) and simultaneous consumption of coagulation prot...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0039-1687890

    authors: Levi M

    更新日期:2019-06-01 00:00:00

  • Venous thromboembolism as first manifestation of cancer.

    abstract::Numerous studies, performed in recent years, have provided the convincing demonstration that the incidence of newly diagnosed malignancy is increased among patients with unexplained venous thromboembolism during the first 6 to 12 months after the thromboembolic event. Among malignancies presenting with venous thromboe...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2007-994914

    authors: Monreal M,Prandoni P

    更新日期:1999-01-01 00:00:00

  • Chemical derivatization as a strategy to study structure-activity relationships of glycosaminoglycans.

    abstract::Sulfated glycosaminoglycans (GAGs) are amenable to a number of chemical modifications that modulate their biological activity. N-sulfate groups can be exposed and N-acylated (usually N-acetylated), specific O-sulfate groups can be removed, and free hydroxyl groups (either preexisting in the original GAG or exposed by ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2002-34302

    authors: Casu B,Naggi A,Torri G

    更新日期:2002-08-01 00:00:00

  • Supportive care in pediatric cancer: the road to prevention of thrombosis.

    abstract::The survival rate of children with cancer has increased impressively to almost 80% over the last decades as a result of improved diagnostic procedures and multimodal treatment strategies. Therefore, it becomes more and more important to prevent mortality and morbidity of treatment-associated complications, including v...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1370795

    authors: van Ommen CH,Chan AK

    更新日期:2014-04-01 00:00:00

  • Disseminated intravascular coagulation and related syndromes: a clinical review.

    abstract::Current concepts of the cause, pathophysiologic mechanisms, diagnosis, and management of acute and chronic DIC have been discussed. Considerable attention has been devoted to interrelationships that have remained confusing. Only by clearly understanding these pathophysiologic interrelationships can the clinician and l...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2007-1002793

    authors: Bick RL

    更新日期:1988-10-01 00:00:00

  • Shear-, Sound-, and Light-Sensitive Nanoparticles for Thrombolytic Drug Delivery.

    abstract::Thrombotic diseases, as potentially induced by blood clots or vascular embolization, frequently occur with high rates of mortalities worldwide. Current drug thrombolysis, a primary clinical therapy, may increase fatal risk of hemorrhage when thrombolysis agents become systemically distributed. Given current thrombolys...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0039-1688490

    authors: Qu S,Ding X

    更新日期:2020-07-01 00:00:00

  • Women with thrombophilia: assessing the risks for thrombosis with oral contraceptives or hormone replacement therapy.

    abstract::Women with inherited or acquired thrombophilia are at increased risk for venous thromboembolism (VTE) when they use oral contraceptives (OCs) of either the second or third generation. For women who are heterozygous for Factor V Leiden, the risk is probably 28 to 50 of 10,000 women-years compared to 2 to 5 of 10,000 ye...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:

    authors: Waselenko JK,Nace MC,Alving B

    更新日期:1998-01-01 00:00:00

  • Vatreptacog alfa from conception to clinical proof of concept.

    abstract::Vatreptacog alfa is a genetically engineered variant of recombinant factor VIIa (rFVIIa) containing three amino acid changes. Aspartic acid, valine, and glutamine residues replace valine, glutamic acid, and methionine at positions 158, 296, and 298, respectively. These substitutions result in considerable enhancement ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0032-1302442

    authors: Persson E,Olsen OH,Bjørn SE,Ezban M

    更新日期:2012-04-01 00:00:00

  • Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group.

    abstract::The present study revises the criteria of the Polycythemia Vera Group (PVSG) for the diagnoses of essential thrombocythemia (ET) and polycythemia vera (PV) in view of accumulating data on in vitro cultures of hematopoietic progenitors and by adding histopathology from bone marrow biopsies. The majority of ET patients ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 指南,杂志文章,实务指引

    doi:10.1055/s-2007-996107

    authors: Michiels JJ,Juvonen E

    更新日期:1997-01-01 00:00:00

  • Fibrin D-dimer in thrombogenic disorders.

    abstract::Measurement of D-dimer (fibrin degradation product) is important for determining not only the activation of fibrinolysis but also the severity of a hypercoagulable state. However, fibrin degradation products are in variable, and the reactivity to cross-linked fibrin degradation products produced during fibrin degradat...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-2000-9811

    authors: Matsuo T,Kobayashi H,Kario K,Suzuki S

    更新日期:2000-01-01 00:00:00

  • The influence of beta2-glycoprotein I on tissue factor activity.

    abstract::The beta2-glycoprotein I (beta2-GPI) is known for its procoagulant as well as anticoagulant properties. The influence of beta2-GPI on tissue factor (TF) activity was investigated by chromogenic assays for both factor Xa generation and factor VIIa activity. When 1.36 mg/mL beta2-GPI was added to phospholipids prior to ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-2007-995844

    authors: Ieko M,Yasukouchi T,Sawada KI,Koike T

    更新日期:1998-01-01 00:00:00

  • Management of Patients Taking Oral Anticoagulants Who Need Urgent Surgery for Hip Fracture.

    abstract::The number of hip fractures in anticoagulated patients is predicted to increase, due to people living longer. However, evidence regarding urgent perioperative management of elderly patients with hip fracture who take oral anticoagulants (vitamin K antagonists or direct oral anticoagulants) is scarce. In this article, ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0039-1678718

    authors: Grandone E,Ostuni A,Tiscia GL,Marongiu F,Barcellona D

    更新日期:2019-03-01 00:00:00

  • Biological variation in tests of hemostasis.

    abstract::The two components of biological variability are interindividual variability, which is the variability due to the heterogeneity of physiologic influences among subjects, and intraindividual variability, which is due to the variability in the same individual over time. Analysis of biological variation is crucial for es...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0029-1214155

    authors: Banfi G,Del Fabbro M

    更新日期:2009-02-01 00:00:00

  • Prevention of venous thromboembolism in medical patients with thrombocytopenia or with platelet dysfunction: a review of the literature.

    abstract::Current guidelines for venous thromboembolism (VTE) primary prophylaxis are based on randomized clinical trials that exclude subjects at a potentially high bleeding risk. Thus no specific recommendation/algorithm for pharmacological prophylaxis in patients with thrombocytopenia and/or platelet dysfunction is available...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0031-1273090

    authors: Tufano A,Guida A,Di Minno MN,Prisco D,Cerbone AM,Di Minno G

    更新日期:2011-04-01 00:00:00

  • Active online assessment of patients using new oral anticoagulants: bleeding risk, compliance, and coagulation analysis.

    abstract::Clinicians prescribing new oral anticoagulants (OACs; dabigatran, rivaroxaban, and apixaban) should be aware of the exclusion criteria related to bleeding risks defined in published clinical studies. At least a quarter of patients currently using warfarin have an exclusion criterion that may prevent easy transition to...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0031-1300948

    authors: Salmela B,Joutsi-Korhonen L,Armstrong E,Lassila R

    更新日期:2012-02-01 00:00:00

  • Emerging issues on comprehensive hemophilia care: preventing, identifying, and monitoring age-related comorbidities.

    abstract::Life expectancy for persons with hemophilia (PWH) has considerably increased in the last decades as a direct result of the availability of modern therapies to control the clotting defect. Because their life expectancy now matches that of the general population, PWH are experiencing age-related comorbidities, such as, ...

    journal_title:Seminars in thrombosis and hemostasis

    pub_type: 杂志文章,评审

    doi:10.1055/s-0033-1354424

    authors: Coppola A,Santoro C,Franchini M,Mannucci C,Mogavero S,Molinari AC,Schinco P,Tagliaferri A,Santoro RC

    更新日期:2013-10-01 00:00:00