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  1. Book ; Online ; E-Book: Textbook of von Willebrand disease

    Federici, Augusto B. / Berntorp, Erik E. / Lillicrap, David / Montgomery, Robert R.

    basic and clinical aspects

    2024  

    Author's details edited by Augusto B. Federici, Erik E. Berntorp, David Lillicrap, Robert R. Montgomery
    Subject code 616.1/57
    Language English
    Size 1 Online-Ressource (xiii, 289 Seiten), Illustrationen, Diagramme
    Edition Second edition
    Publisher Wiley Blackwell
    Publishing place Hoboken, NJ
    Publishing country United States
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT030714704
    ISBN 978-1-119-41949-5 ; 9781119419488 ; 1-119-41949-2 ; 1119419484
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book: Von Willebrand disease

    Federici, Augusto B.

    basic and clinical aspects

    2011  

    Author's details ed. by Augusto B. Federici
    Keywords von Willebrand Diseases
    Language English
    Size XIII, 252 S. : Ill., graph. Darst.
    Publisher Wiley-Blackwell
    Publishing place Chichester u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT016772478
    ISBN 978-1-4051-9512-6 ; 1-4051-9512-6
    Database Catalogue ZB MED Medicine, Health

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  3. Article ; Online: Towards a more automatic and rapid laboratory diagnosis of von Willebrand disease.

    Federici, Augusto B

    Thrombosis research

    2016  Volume 141, Page(s) 198–201

    MeSH term(s) Clinical Laboratory Techniques/economics ; Clinical Laboratory Techniques/methods ; Humans ; Pathology, Molecular/economics ; Pathology, Molecular/methods ; Time Factors ; von Willebrand Diseases/blood ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/metabolism ; von Willebrand Factor/analysis ; von Willebrand Factor/metabolism
    Chemical Substances von Willebrand Factor
    Language English
    Publishing date 2016-05
    Publishing country United States
    Document type Editorial
    ZDB-ID 121852-9
    ISSN 1879-2472 ; 0049-3848
    ISSN (online) 1879-2472
    ISSN 0049-3848
    DOI 10.1016/j.thromres.2016.02.029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: HDL/ApoA-I: role in VWF-dependent thrombosis.

    Federici, Augusto B

    Blood

    2016  Volume 127, Issue 5, Page(s) 526–528

    Abstract: In this issue of Blood, Chung and colleagues demonstrate in vitro and in an animal model that von Willebrand factor (VWF) self-association under shear stress can be modulated by the high-density lipoprotein and apolipoprotein A-I (HDL/ApoA-I) complex, ... ...

    Abstract In this issue of Blood, Chung and colleagues demonstrate in vitro and in an animal model that von Willebrand factor (VWF) self-association under shear stress can be modulated by the high-density lipoprotein and apolipoprotein A-I (HDL/ApoA-I) complex, with significant reduction in the length and thickness of VWF fibers. These antiadhesive and antithrombotic properties of HDL/ApoA-I may connect the pathology of microvasculature with that of large vessels (atherosclerosis with arterial thrombosis) and might suggest novel approaches to these thrombotic disorders.
    MeSH term(s) Animals ; Apolipoprotein A-I/metabolism ; Humans ; Lipoproteins, HDL/metabolism ; Platelet Adhesiveness ; Thrombosis/metabolism ; von Willebrand Factor/metabolism
    Chemical Substances Apolipoprotein A-I ; Lipoproteins, HDL ; von Willebrand Factor
    Language English
    Publishing date 2016-02-02
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2015-12-682484
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Unexpected Neurological Symptoms of Ruxolitinib: A Case Report.

    Furia, Francesca / Canevini, Maria P / Federici, Augusto B / Carraro, Maria C

    Journal of hematology

    2020  Volume 9, Issue 4, Page(s) 137–139

    Abstract: Ruxolitinib is a highly ... ...

    Abstract Ruxolitinib is a highly potent
    Language English
    Publishing date 2020-10-01
    Publishing country Canada
    Document type Case Reports
    ZDB-ID 2662519-2
    ISSN 1927-1220 ; 1927-1220
    ISSN (online) 1927-1220
    ISSN 1927-1220
    DOI 10.14740/jh642
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Clinical and laboratory diagnosis of VWD.

    Federici, Augusto B

    Hematology. American Society of Hematology. Education Program

    2014  Volume 2014, Issue 1, Page(s) 524–530

    Abstract: VWD is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of VWF. VWD is inherited in an autosomal-dominant or autosomal-recessive pattern, but women are apparently more symptomatic. Three main criteria are required ...

    Abstract VWD is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of VWF. VWD is inherited in an autosomal-dominant or autosomal-recessive pattern, but women are apparently more symptomatic. Three main criteria are required for correct diagnoses of VWD: (1) positive bleeding history since childhood, (2) reduced VWF activity in plasma, and (3) history of bleeding in the family. The bleeding score, together with baseline VWF levels and family history, have been proposed as more evidence-based criteria for VWD. Measurements of a reduced VWF activity in plasma are essential for the diagnosis of VWD; assays for the evaluation of the interactions between VWF and platelet glycoprotein Ib receptor with or without ristocetin, as well as VWF collagen binding, are currently in use. However, other tests such as VWF antigen, factor VIII, ristocetin-induced platelet agglutination, multimeric analysis, VWF propeptide, VWF/FVIII binding assay, and assessment of biological response to desmopressin are necessary to characterize VWD types. Levels of VWF activities <30 U/dL have been associated with a bleeding phenotype and the presence of mutations in the VWF gene.
    MeSH term(s) Biological Assay ; Clinical Laboratory Techniques/methods ; Genotype ; Hemorrhage/pathology ; Humans ; Phenotype ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/genetics ; von Willebrand Diseases/pathology
    Language English
    Publishing date 2014-12-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ISSN 1520-4383
    ISSN (online) 1520-4383
    DOI 10.1182/asheducation-2014.1.524
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The von Willebrand factor from basic mechanisms to clinical practice.

    Federici, Augusto B

    Blood transfusion = Trasfusione del sangue

    2011  Volume 9 Suppl 2, Page(s) s1–2

    MeSH term(s) Factor VIII/therapeutic use ; Hemophilia A/drug therapy ; Hemophilia A/immunology ; Humans ; von Willebrand Diseases/drug therapy ; von Willebrand Factor/therapeutic use
    Chemical Substances von Willebrand Factor ; Factor VIII (9001-27-8)
    Language English
    Publishing date 2011-05-31
    Publishing country Italy
    Document type Editorial
    ZDB-ID 2135732-8
    ISSN 2385-2070 ; 0041-1787 ; 1723-2007
    ISSN (online) 2385-2070
    ISSN 0041-1787 ; 1723-2007
    DOI 10.2450/2011.001S
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.

    Castaman, Giancarlo / Federici, Augusto B

    Seminars in thrombosis and hemostasis

    2016  Volume 42, Issue 5, Page(s) 478–482

    Abstract: Type 2B von Willebrand disease (VWD2B) is a rare, autosomal-dominant inherited bleeding disorder, characterized by an enhanced ristocetin-induced platelet aggregation in platelet-rich plasma and often with variable degree of thrombocytopenia and loss of ... ...

    Abstract Type 2B von Willebrand disease (VWD2B) is a rare, autosomal-dominant inherited bleeding disorder, characterized by an enhanced ristocetin-induced platelet aggregation in platelet-rich plasma and often with variable degree of thrombocytopenia and loss of high-molecular-weight multimers von Willebrand factor (VWF). All these phenomena are caused by a mutant VWF, normally synthesized and assembled by endothelial cells, but with heightened affinity binding to the platelet receptor glycoprotein Ib-α (GpIb-α). When this abnormal VWF is released into the circulation and under specific clinical circumstances, in vivo platelet clumping is observed. Mutations, invariably clustered in exon 28 of the VWF gene encoding for the VWF A1 domain involved in VWF binding to GpIb-α, are responsible for VWD2B phenotype. Clinical and laboratory phenotype appears strongly related to the type of VWF-causative mutations. However, recent evidences suggest that a true platelet defect is also present in this type, with several morphological and functional abnormalities being detected in a subset of VWD2B patients.
    MeSH term(s) Blood Platelets/metabolism ; Blood Platelets/pathology ; Exons ; Humans ; Mutation ; Plasma ; Platelet Glycoprotein GPIb-IX Complex/genetics ; Platelet Glycoprotein GPIb-IX Complex/metabolism ; von Willebrand Disease, Type 2/blood ; von Willebrand Disease, Type 2/genetics ; von Willebrand Disease, Type 2/pathology ; von Willebrand Factor/genetics ; von Willebrand Factor/metabolism
    Chemical Substances Platelet Glycoprotein GPIb-IX Complex ; adhesion receptor ; von Willebrand Factor
    Language English
    Publishing date 2016-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 196901-8
    ISSN 1098-9064 ; 0094-6176
    ISSN (online) 1098-9064
    ISSN 0094-6176
    DOI 10.1055/s-0036-1579638
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Acquired von Willebrand syndrome associated with hypothyroidism: a mild bleeding disorder to be further investigated.

    Federici, Augusto B

    Seminars in thrombosis and hemostasis

    2011  Volume 37, Issue 1, Page(s) 35–40

    Abstract: Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder with laboratory findings similar to those for congenital von Willebrand disease (VWD). Unlike VWD, AVWS usually occurs in individuals with no personal or family history of bleeding. The ... ...

    Abstract Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder with laboratory findings similar to those for congenital von Willebrand disease (VWD). Unlike VWD, AVWS usually occurs in individuals with no personal or family history of bleeding. The prevalence of AVWS in the general population is unknown because data from large prospective studies of this syndrome are not available. Although AVWS is more frequently associated with lympho-myeloproliferative and cardiovascular disorders, it can also occur in solid tumors and in immunological and other miscellaneous conditions. Among these miscellaneous conditions, hypothyroidism has been associated with AVWS type 1 with a frequency of ~2 to 5%. In the 47 cases reported in the literature, the low VWF is apparently due to a reduction in its synthesis and/or secretion. Diagnosis of AVWS is based on assays measuring the level and activity of von Willebrand factor (VWF). These tend to be low, whereas factor VIII (FVIII) coagulant activity can be normal. In patients with AVWS associated with hypothyroidism, mucocutaneous bleeding episodes are the most frequent and can be managed with local therapy and/or systemic administrations of antifibrinolytic agents and desmopressin. VWF/FVIII concentrates have been used in only a few patients. The use of thyroid hormones can reverse this abnormality.
    MeSH term(s) Adolescent ; Adult ; Aged ; Blood Coagulation Disorders, Inherited/blood ; Female ; Humans ; Hypothyroidism/blood ; Male ; Middle Aged ; Young Adult ; von Willebrand Diseases/blood ; von Willebrand Factor/metabolism
    Chemical Substances von Willebrand Factor
    Language English
    Publishing date 2011-02-08
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 196901-8
    ISSN 1098-9064 ; 0094-6176
    ISSN (online) 1098-9064
    ISSN 0094-6176
    DOI 10.1055/s-0030-1270069
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: A need to increase von Willebrand disease awareness: vwdtest.com - A global initiative to help address this gap.

    Corrales-Medina, Fernando F / Federici, Augusto B / Srivastava, Alok / Dougall, Alison / Millar, Carolyn M / Roberts, Jonathan C / Jaffray, Julie / Berntorp, Erik

    Blood reviews

    2022  Volume 58, Page(s) 101018

    Abstract: Von Willebrand disease (VWD) is an inherited bleeding disorder caused by quantitative or qualitative deficiencies in von Willebrand factor (VWF). People with VWD may experience excessive, recurrent or prolonged bleeding, particularly during menstruation, ...

    Abstract Von Willebrand disease (VWD) is an inherited bleeding disorder caused by quantitative or qualitative deficiencies in von Willebrand factor (VWF). People with VWD may experience excessive, recurrent or prolonged bleeding, particularly during menstruation, childbirth, surgery or following trauma. However, many VWD patients are undiagnosed, and therefore inadequately treated. Reasons for the underdiagnosis of VWD include its relatively mild symptoms, complex diagnosis, lack of awareness among non-specialist healthcare providers and the general population, and a lack of prioritisation of disorders disproportionately affecting females. The vwdtest.com platform was launched as part of a global initiative to raise awareness and improve diagnosis of VWD. Besides providing VWD-specific educational resources, the website includes an online bleeding self-assessment tool and offers diagnostic support for individuals, and their providers, who have a score suggestive of a bleeding disorder. vwdtest.com helps to address these unmet needs, especially in regions with limited access to educational and diagnostic resources.
    MeSH term(s) Female ; Humans ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/therapy ; von Willebrand Diseases/complications ; von Willebrand Factor ; Hemorrhage/diagnosis ; Hemorrhage/etiology ; Hemorrhage/therapy ; Hemorrhagic Disorders
    Chemical Substances von Willebrand Factor
    Language English
    Publishing date 2022-10-01
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2022.101018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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