von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.

Abstract:

:von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder. The disease represents a range of quantitative and qualitative pathologies of the adhesive glycoprotein von Willebrand factor (VWF). The pathogenic mechanisms responsible for the type 2 qualitative variants of VWF are now well characterized, with most mutations representing missense substitutions influencing VWF multimer structure and interactions with platelet GPIbα and collagen and with factor VIII. The molecular pathology of type 3 VWD has been similarly well characterized, with an array of different mutation types producing either a null phenotype or the production of VWF that is not secreted. In contrast, the pathogenetic mechanisms responsible for type 1 VWD remain only partially resolved. In the hemostasis laboratory, the measurement of VWF:Ag and VWF:RCo are key components in the diagnostic algorithm for VWD, although the introduction of direct GPIbα-binding assays may become the functional assay of choice. Molecular genetic testing can provide additional benefit, but its utility is currently limited to type 2 and 3 VWD. The treatment of bleeding in VWD involves the use of desmopressin and plasma-derived VWF concentrates and a variety of adjunctive agents. Finally, a new recombinant VWF concentrate has just completed clinical trial evaluation and has demonstrated excellent hemostatic efficacy and safety.

journal_name

Blood

journal_title

Blood

authors

Lillicrap D

doi

10.1182/blood-2013-06-498303

subject

Has Abstract

pub_date

2013-11-28 00:00:00

pages

3735-40

issue

23

eissn

0006-4971

issn

1528-0020

pii

blood-2013-06-498303

journal_volume

122

pub_type

杂志文章,评审

相关文献

BLOOD文献大全
  • Platelet NAD(P)H-oxidase-generated ROS production regulates alphaIIbbeta3-integrin activation independent of the NO/cGMP pathway.

    abstract::Platelets play a crucial role in the physiology of primary hemostasis and pathophysiologic processes such as arterial thrombosis. Accumulating evidence suggests a role of reactive oxygen species (ROSs) in platelet activation. Here we show that platelets activated with different agonists produced intracellular ROSs, wh...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-03-1047

    authors: Begonja AJ,Gambaryan S,Geiger J,Aktas B,Pozgajova M,Nieswandt B,Walter U

    更新日期:2005-10-15 00:00:00

  • Transcription factor C/EBPα-induced microRNA-30c inactivates Notch1 during granulopoiesis and is downregulated in acute myeloid leukemia.

    abstract::The transcription factor CCAAT enhancer binding protein α (C/EBPα) is a master regulator in granulopoiesis and is frequently disrupted in acute myeloid leukemia (AML). We have previously shown that C/EBPα exerts its effects by regulating microRNAs (miRs) such as miR-223 and miR-34a. Here, we confirm miR-30c as a novel...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2012-12-472183

    authors: Katzerke C,Madan V,Gerloff D,Bräuer-Hartmann D,Hartmann JU,Wurm AA,Müller-Tidow C,Schnittger S,Tenen DG,Niederwieser D,Behre G

    更新日期:2013-10-03 00:00:00

  • Recombinant prolylcarboxypeptidase activates plasma prekallikrein.

    abstract::The serine protease prolylcarboxypeptidase (PRCP), isolated from human umbilical vein endothelial cells (HUVECs), is a plasma prekallikrein (PK) activator. PRCP cDNA was cloned in pMT/BIP/V5-HIS-C, transfected into Schneider insect (S2) cells, and purified from serum-free media. Full-length recombinant PRCP (rPRCP) ac...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2003-07-2510

    authors: Shariat-Madar Z,Mahdi F,Schmaier AH

    更新日期:2004-06-15 00:00:00

  • alpha-Actinin and vinculin in normal and thrombasthenic platelets.

    abstract::Recently, the contractile protein alpha-actinin was identified in normal human platelets by its antigenic cross-reaction with a monospecific antibody to purified muscle alpha-actinin. In this study, we extend that preliminary identification of platelet alpha-actinin. Amino acid analysis, one-dimensional peptide maps, ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Langer BG,Gonnella PA,Nachmias VT

    更新日期:1984-03-01 00:00:00

  • The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases.

    abstract::The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Collins FS,Cole JL,Lockwood WK,Iannuzzi MC

    更新日期:1987-12-01 00:00:00

  • Different mechanisms of cyclin D1 overexpression in multiple myeloma revealed by fluorescence in situ hybridization and quantitative analysis of mRNA levels.

    abstract::The t(11;14)(q13;q32) is the most common translocation in multiple myeloma (MM), resulting in up-regulation of cyclin D1. We used a segregation fluorescence in situ hybridization (FISH) assay to detect t(11;14) breakpoints in primary MM cases and real-time reverse transcriptase-polymerase chain reaction (RT-PCR) to qu...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2003-11-3837

    authors: Specht K,Haralambieva E,Bink K,Kremer M,Mandl-Weber S,Koch I,Tomer R,Hofler H,Schuuring E,Kluin PM,Fend F,Quintanilla-Martinez L

    更新日期:2004-08-15 00:00:00

  • Detection of the molecular abnormality in chronic myeloid leukemia by use of the polymerase chain reaction.

    abstract::The bcr-abl translocation characteristic of chronic myeloid leukemia (CML) was detected by the polymerase chain reaction (PCR) modified to use mRNA as the starting material. Amplification of a sequence spanning the bcr-abl junction was obtained by using peripheral blood cells from all of 20 patients with classic CML, ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Dobrovic A,Trainor KJ,Morley AA

    更新日期:1988-12-01 00:00:00

  • Hematopoietic stem cell transplantation for multiple myeloma beyond 2010.

    abstract::Autologous stem cell transplantation (ASCT) is considered the gold standard in the frontline therapy of younger patients with multiple myeloma because it results in higher complete remission (CR) rates and longer event-free survival than conventional chemotherapy. The greatest benefit from ASCT is obtained in patients...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2009-08-238196

    authors: Bladé J,Rosiñol L,Cibeira MT,Rovira M,Carreras E

    更新日期:2010-05-06 00:00:00

  • Activation of human platelets by the rabbit anticardiolipin antibodies.

    abstract::Affinity purified anticardiolipin antibodies (ACLA) raised in rabbits showed cross-reactivities with various negatively charged phospholipids as shown by both the solid phase enzyme-linked immunosorbent assay (ELISA) and inhibition studies. In ELISA, ACLA showed strong cross-reactivity to both sphingomyelin (SM) and p...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Lin YL,Wang CT

    更新日期:1992-12-15 00:00:00

  • Regulation of type I plasminogen activator inhibitor by fibrin degradation products in rat lung fibroblasts.

    abstract::Persistent fibrin deposition in tissues characterizes the early pathology of many types of injury. In an animal model of bleomycin-induced lung fibrosis, increased expression of type 1 plasminogen activator inhibitor (PAI-1) is associated with accumulation of fibrin in fibroproliferative lesions. Plasmin proteolysis o...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Hagood JS,Olman MA,Godoy JA,Rivera KE,Fuller GM

    更新日期:1996-05-01 00:00:00

  • Acute graft-versus-host disease: a bench-to-bedside update.

    abstract::Over the past 5 years, many novel approaches to early diagnosis, prevention, and treatment of acute graft-versus-host disease (aGVHD) have been translated from the bench to the bedside. In this review, we highlight recent discoveries in the context of current aGVHD care. The most significant innovations that have alre...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2014-01-514786

    authors: Holtan SG,Pasquini M,Weisdorf DJ

    更新日期:2014-07-17 00:00:00

  • Ly6G ligation blocks recruitment of neutrophils via a β2-integrin-dependent mechanism.

    abstract::Ly6G is a glycosylphosphatidylinositol (GPI)-anchored protein of unknown function that is commonly targeted to induce experimental neutrophil depletion in mice. In the present study, we found that doses of anti-Ly6G Abs too low to produce sustained neutropenia remained capable of inhibiting experimental arthritis, lea...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2012-01-404046

    authors: Wang JX,Bair AM,King SL,Shnayder R,Huang YF,Shieh CC,Soberman RJ,Fuhlbrigge RC,Nigrovic PA

    更新日期:2012-08-16 00:00:00

  • Therapeutic activity of multiple common γ-chain cytokine inhibition in acute and chronic GVHD.

    abstract::The common γ chain (CD132) is a subunit of the interleukin (IL) receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. Because levels of several of these cytokines were shown to be increased in the serum of patients developing acute and chronic graft-versus-host disease (GVHD), we reasoned that inhibition of CD132 co...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-06-581793

    authors: Hechinger AK,Smith BA,Flynn R,Hanke K,McDonald-Hyman C,Taylor PA,Pfeifer D,Hackanson B,Leonhardt F,Prinz G,Dierbach H,Schmitt-Graeff A,Kovarik J,Blazar BR,Zeiser R

    更新日期:2015-01-15 00:00:00

  • Isolated follicular lymphoma cells are resistant to apoptosis and can be grown in vitro in the CD40/stromal cell system.

    abstract::Low-grade follicular non-Hodgkin's lymphomas are characterized by the presence of a t(14;18) chromosomal translocation that results in deregulation of the B-cell lymphoma (Bcl-2) gene. Studies in cell lines and transgenic animal models have suggested that this results in the suppression of apoptotic cell death in germ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Johnson PW,Watt SM,Betts DR,Davies D,Jordan S,Norton AJ,Lister TA

    更新日期:1993-09-15 00:00:00

  • The peritoneal micromilieu commits B cells to home to body cavities and the small intestine.

    abstract::The distinct combination of homing receptors such as selectins, chemokine receptors, and integrins directs the migration of lymphocytes throughout the body. Upon activation lymphocytes irreversibly switch their set of homing receptors, now guiding them to entirely different destinations. Here we report that exposure o...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2006-12-064345

    authors: Berberich S,Förster R,Pabst O

    更新日期:2007-06-01 00:00:00

  • In vivo delivery of a microRNA-regulated transgene induces antigen-specific regulatory T cells and promotes immunologic tolerance.

    abstract::We previously showed that incorporating target sequences for the hematopoietic-specific microRNA miR-142 into an antigen-encoding transgene prevents antigen expression in antigen-presenting cells (APCs). To determine whether this approach induces immunologic tolerance, we treated mice with a miR-142-regulated lentivir...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-04-214569

    authors: Annoni A,Brown BD,Cantore A,Sergi LS,Naldini L,Roncarolo MG

    更新日期:2009-12-10 00:00:00

  • Plasmodium vivax: restricted tropism and rapid remodeling of CD71-positive reticulocytes.

    abstract::Plasmodium vivax merozoites only invade reticulocytes, a minor though heterogeneous population of red blood cell precursors that can be graded by levels of transferrin receptor (CD71) expression. The development of a protocol that allows sorting reticulocytes into defined developmental stages and a robust ex vivo P vi...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-08-596015

    authors: Malleret B,Li A,Zhang R,Tan KS,Suwanarusk R,Claser C,Cho JS,Koh EG,Chu CS,Pukrittayakamee S,Ng ML,Ginhoux F,Ng LG,Lim CT,Nosten F,Snounou G,Rénia L,Russell B

    更新日期:2015-02-19 00:00:00

  • High serum levels of soluble interleukin 2 receptor in patients with B chronic lymphocytic leukemia.

    abstract::By using an enzyme-linked immunosorbent assay, the presence of the soluble form of the interleukin-2 receptor (sIL-2R) was evaluated in the peripheral blood of 54 patients with B cell chronic lymphocytic leukemia (B-CLL). Serum levels of sIL-2R were correlated with clinical features, relevant hematologic and immunolog...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Semenzato G,Foa R,Agostini C,Zambello R,Trentin L,Vinante F,Benedetti F,Chilosi M,Pizzolo G

    更新日期:1987-08-01 00:00:00

  • Gene therapy. Factor IX Padua: them that have, give.

    abstract::In this issue of Blood, Finn et al have taken a factor IX variant with increased specific activity associated with thrombophilia and used it to improve gene therapy of hemophilia B in dogs, and Cantore et al have shown similar results in mice. ...

    journal_title:Blood

    pub_type: 评论,杂志文章

    doi:10.1182/blood-2012-09-452821

    authors: Lozier JN

    更新日期:2012-11-29 00:00:00

  • Efficient transduction of pigtailed macaque hematopoietic repopulating cells with HIV-based lentiviral vectors.

    abstract::Lentiviral vectors are attractive for hematopoietic stem cell (HSC) gene therapy because they do not require mitosis for nuclear entry, they efficiently transduce hematopoietic repopulating cells, and self-inactivating (SIN) designs can be produced at high titer. Experiments to evaluate HIV-derived lentiviral vectors ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2007-09-115022

    authors: Trobridge GD,Beard BC,Gooch C,Wohlfahrt M,Olsen P,Fletcher J,Malik P,Kiem HP

    更新日期:2008-06-15 00:00:00

  • Platelet adhesion to fibronectin in flow: the importance of von Willebrand factor and glycoprotein Ib.

    abstract::We describe glycoprotein (GP) Ib as a mediator of adhesion to fibronectin, specifically in flow. A monoclonal antibody (MoAb) directed to the von Willebrand factor (vWF)-binding site on this receptor or the absence of this receptor on the platelet membrane, in the case of a patient with the Bernard-Soulier syndrome, r...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Beumer S,Heijnen HF,IJsseldijk MJ,Orlando E,de Groot PG,Sixma JJ

    更新日期:1995-11-01 00:00:00

  • Growth of human myeloid leukemias in the human marrow environment of SCID-hu mice.

    abstract::It has been shown previously that multilineage human hematopoiesis is maintained within human fetal bone marrow (BM) fragments implanted into severe combined immunodeficient (SCID) mice. We describe here an application of this animal model, the SCID-hu mouse, to the study of human myeloid leukemias. BM cells from 8 pa...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Namikawa R,Ueda R,Kyoizumi S

    更新日期:1993-10-15 00:00:00

  • Sustained human hematopoiesis in immunodeficient mice by cotransplantation of marrow stroma expressing human interleukin-3: analysis of gene transduction of long-lived progenitors.

    abstract::We have developed a novel cotransplantation system in which gene-transduced human CD34+ progenitor cells are transplanted into immunodeficient (bnx) mice together with primary human bone marrow (BM) stromal cells engineered to produce human interleukin-3 (IL-3). The IL-3-secreting stroma produced sustained circulating...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Nolta JA,Hanley MB,Kohn DB

    更新日期:1994-05-15 00:00:00

  • Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

    abstract::The switch from fetal to adult hemoglobin is incomplete; the residual fetal hemoglobin in adults is restricted to a subset of erythrocytes called F cells. F-cell levels are influenced by a sequence variant (C-->T) at position -158 upstream of the gamma-globin gene, termed the XmnI-Ggamma polymorphism. How the Ggamma-1...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2004-02-0527

    authors: Garner C,Silver N,Best S,Menzel S,Martin C,Spector TD,Thein SL

    更新日期:2004-10-01 00:00:00

  • Serotonin induces the expression of tissue factor and plasminogen activator inhibitor-1 in cultured rat aortic endothelial cells.

    abstract::Serotonin (5-hydroxytryptamine, or 5-HT), released from activated platelets, not only accelerates aggregation of platelets but also is known to promote mitosis, migration, and contraction of vascular smooth muscle cells (VSMCs). These effects are considered to contribute to thrombus formation and atherosclerosis. The ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v97.6.1697

    authors: Kawano H,Tsuji H,Nishimura H,Kimura S,Yano S,Ukimura N,Kunieda Y,Yoshizumi M,Sugano T,Nakagawa K,Masuda H,Sawada S,Nakagawa M

    更新日期:2001-03-15 00:00:00

  • Human signaling protein 14-3-3zeta interacts with platelet glycoprotein Ib subunits Ibalpha and Ibbeta.

    abstract::The initiation of primary hemostasis is mediated by interaction of the platelet glycoprotein Ib (GPIb) surface receptor and its arterial subendothelial von Willebrand factor (vWF) ligand. The intracellular signaling immediately following GPIb receptor occupancy connecting the adhesive event to platelet activation and ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Calverley DC,Kavanagh TJ,Roth GJ

    更新日期:1998-02-15 00:00:00

  • Fecal microbiota transplantation for patients with steroid-resistant acute graft-versus-host disease of the gut.

    abstract::Increasing evidence indicates that the gut microbiota is closely associated with acute graft-versus-host disease (aGVHD) in stem cell transplantation (SCT). Fecal microbiota transplantation (FMT) could represent an alternative treatment option for aGVHD. However, FMT for SCT patients carries a potential risk of infect...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:10.1182/blood-2016-05-717652

    authors: Kakihana K,Fujioka Y,Suda W,Najima Y,Kuwata G,Sasajima S,Mimura I,Morita H,Sugiyama D,Nishikawa H,Hattori M,Hino Y,Ikegawa S,Yamamoto K,Toya T,Doki N,Koizumi K,Honda K,Ohashi K

    更新日期:2016-10-20 00:00:00

  • The beta-adrenergic receptor adenylate cyclase complex of Rauscher murine erythroleukemia cells and its response to erythropoietin-induced differentiation.

    abstract::Rauscher murine erythroleukemia cells, grown continuously in vitro, undergo erythroid differentiation in response to the hormone erythropoietin. Therefore, they serve as an important model system with which to examine critical biochemical aspects of this developmental process. Intact, uninduced Rauscher cells possess ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Sytkowski AJ,Kessler CJ

    更新日期:1984-07-01 00:00:00

  • Activity of transgene-produced B-domain-deleted factor VIII in human plasma following AAV5 gene therapy.

    abstract::Adeno-associated virus (AAV)-based gene therapies can restore endogenous factor VIII (FVIII) expression in hemophilia A (HA). AAV vectors typically use a B-domain-deleted FVIII transgene, such as human FVIII-SQ in valoctocogene roxaparvovec (AAV5-FVIII-SQ). Surprisingly, the activity of transgene-produced FVIII-SQ was...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2020005683

    authors: Rosen S,Tiefenbacher S,Robinson M,Huang M,Srimani J,Mackenzie D,Christianson T,Pasi KJ,Rangarajan S,Symington E,Giermasz A,Pierce GF,Kim B,Zoog SJ,Vettermann C

    更新日期:2020-11-26 00:00:00

  • The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties.

    abstract::Cytogenetics is considered one of the most valuable prognostic determinants in acute myeloid leukemia (AML). However, many studies on which this assertion is based were limited by relatively small sample sizes or varying treatment approach, leading to conflicting data regarding the prognostic implications of specific ...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:

    authors: Grimwade D,Walker H,Oliver F,Wheatley K,Harrison C,Harrison G,Rees J,Hann I,Stevens R,Burnett A,Goldstone A

    更新日期:1998-10-01 00:00:00