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dc.contributor.author
Woods, Adriana Inés  
dc.contributor.author
Kempfer, Ana Catalina  
dc.contributor.author
Paiva Palomino, Juvenal Hernán  
dc.contributor.author
Sánchez Luceros, Analía Gabriela  
dc.contributor.author
Bermejo, Emilse  
dc.contributor.author
Chuit, Roberto  
dc.contributor.author
Alberto, Maria Fabiana  
dc.contributor.author
Blanco, Alicia Noemi  
dc.contributor.author
Lazzari, María Ángela  
dc.date.available
2018-05-13T18:15:57Z  
dc.date.issued
2017-02  
dc.identifier.citation
Woods, Adriana Inés; Kempfer, Ana Catalina; Paiva Palomino, Juvenal Hernán; Sánchez Luceros, Analía Gabriela; Bermejo, Emilse; et al.; Phenotypic parameters in genotypically selected type 2B von Willebrand Disease patients: a large, single-center experience including a new novel mutation; Thieme Medical Publ Inc; Seminars In Thrombosis And Hemostasis; 43; 1; 2-2017; 92-100  
dc.identifier.issn
0094-6176  
dc.identifier.uri
http://hdl.handle.net/11336/45022  
dc.description.abstract
Von Willebrand disease type 2B (VWD2B) expresses gain-of-function mutations that enhance binding of an individual's von Willebrand factor (VWF) to its platelet ligand, glycoprotein Ib (GPIb), and which are usually identified by increased ristocetin-induced platelet aggregation (RIPA). We describe here the phenotypic profile of 38 genotypically selected VWD2B-affected family members (AFMs) belonging to 19 unrelated families. Major bleeding was observed in 68.4% of AFMs (previous to their diagnosis and registered by lifetime interviews), with a total of 46 episodes (1.21/patient), and was found to be highly related to the individual bleeding score and presence of thrombocytopenia, but otherwise unrelated to other laboratory parameters. Excessive muco-cutaneous bleeding symptoms were often reported, the most frequent of which comprised menorrhagia, epistaxis, easy bruising, and bleeding after teeth extraction/in oral cavity. Eight unaffected family members were also studied. The prevalence of VWD2B within families was 0.826, and the penetrance of mutations was complete, making it mandatory to study entire family sets to complete diagnostic profiles. Seven heterozygous missense mutations were found, the most common being p.V1316M. In the p.R1308C group, 75% of the AFMs showed absence of RIPA at 0.5 mg/mL, 66.6% of whom had VWF:RCo < 10 IU/dL, and 50% of whom had VWF:CB < 10 IU/dL. In the p.S1310F group, none of the AFMs had VWF:RCo/VWF:Ag < 0.6 (RCo/Ag), but 100% had VWF:CB/VWF:Ag < 0.6/(CB/Ag). Patients with p.P1266L and p.R1304V were characterized as atypical VWD2B. Two de novo mutations were found in four AFMs belonging to two families. We also describe a novel mutation: p.Y1258C. Of our patients, 70.5% had O blood group. In conclusion, a normal RCo/Ag and a negative RIPA at 0.5 mg/mL do not necessarily rule out a diagnosis of VWD2B  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Thieme Medical Publ Inc  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Vwd 2b  
dc.subject
Genotype  
dc.subject
Von Willebrand Disease Type 2  
dc.subject
Ripsa  
dc.subject.classification
Patología  
dc.subject.classification
Medicina Básica  
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Phenotypic parameters in genotypically selected type 2B von Willebrand Disease patients: a large, single-center experience including a new novel mutation  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2018-04-16T14:28:19Z  
dc.journal.volume
43  
dc.journal.number
1  
dc.journal.pagination
92-100  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
Nueva York  
dc.description.fil
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina  
dc.description.fil
Fil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina  
dc.description.fil
Fil: Paiva Palomino, Juvenal Hernán. Academia Nacional de Medicina de Buenos Aires; Argentina  
dc.description.fil
Fil: Sánchez Luceros, Analía Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina  
dc.description.fil
Fil: Bermejo, Emilse. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina  
dc.description.fil
Fil: Chuit, Roberto. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Epidemiológicas; Argentina  
dc.description.fil
Fil: Alberto, Maria Fabiana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina  
dc.description.fil
Fil: Blanco, Alicia Noemi. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina  
dc.description.fil
Fil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina  
dc.journal.title
Seminars In Thrombosis And Hemostasis  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0036-1597293  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1055/s-0036-1597293  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/pmid/27978591