Linked Life Data

20303469

Source:http://linkedlifedata.com/resource/pubmed/id/20303469

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-3-22
pubmed:abstractText
It may be difficult to diagnose type 1 von Willebrand disease (VWD) because of its heterogeneous and sometimes elusive nature. To evaluate the contribution of a shorter von Willebrand factor (VWF) survival in modulating VWD phenotype, the VWF half-life was assessed in 45 type 1 VWD patients using a 24-h 1-desamino-8-d-arginine vasopressin (DDAVP) test. A shorter VWF survival was observed in patients with C1130F mutations (T(1/2) elimination [T(1/2)el]=4.6+/-1.0h vs normal=15.8+/-2.3h, P<0.0001), in those with other missense mutations investigated (T(1/2)el=9.5+/-0.9h, P<0.02), and in patients not carrying VWF mutations (T(1/2)el=7.0+/-0.7h, P<0.001); the decrease mainly depended on a greater VWF clearance. VWF survival and clearance were normal in patients who carried nonsense mutations. The VWF-propeptide-to-VWF-antigen (VWF:Ag) ratio (VWFpp ratio) was higher in patients with a shorter VWF survival, and the values were inversely correlated with the VWF half-life (P<0.01). The response of VWF to DDAVP administration, which is useful to explore the synthesis and storage of VWF, was normal in patients with no mutations, whereas it decreased in patients with missense and nonsense mutations. Three scenarios, thus, are recognizable in type 1 VWD; one is associated mainly with a shorter survival of VWF, another is associated with its reduced synthesis and release, and a third is characterized by a combination of the two. The shorter VWF half-life found in patients with no VWF mutations suggests that mechanisms other than VWF might be involved in the pathogenesis of type 1 VWD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1878-1810
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Mosby, Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
155
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
200-8
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.
pubmed:affiliation
Department of Cardiologic, Thoracic, and Vascular Sciences, University of Padua Medical School, Padua, Italy. sandra.casonato@unipd.it
pubmed:publicationType
Journal Article, Clinical Trial, Research Support, Non-U.S. Gov't