Linked Life Data

17594539

Source:http://linkedlifedata.com/resource/pubmed/id/17594539

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
19-20
pubmed:dateCreated
2007-6-27
pubmed:abstractText
Coagulation factor XIII (FXIII) has a major role in the final stage of blood coagulation, is important for wound healing and maintaining pregnancy. Severe congenital FXIII deficiency is a rare disorder with 1 patient in 1-3 million. Untreated, it causes bleeding events, with intracranial haemorrhage being the major cause of death, impaired wound healing, and abortion. FXIII deficiency was traditionally diagnosed using the clot solubility test, but quantitative FXIII activity and antigen assays are preferred today. Treatment consists of replacement therapy with FXIII concentrates administered every 4-6 weeks. The molecular-genetic causes of FXIII deficiency are mutations in the genes coding for the FXIII A- and B-subunits. More than 60 mutations distributed throughout the FXIII A-subunit gene have been identified so far and 4 mutations in the FXIII B-subunit gene. The first case of congenital FXIII deficiency was reported in Switzerland in 1960. In Switzerland we observed a disproportionately high incidence, which can be explained in part by a founder effect. In this article, we summarise general facts on severe congenital FXIII deficiency, and we characterise all FXIII deficient patients living in Switzerland, including the first case described in 1960 who is a member of a large family originating from the canton of Uri.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1424-7860
pubmed:author
pubmed:issnType
Print
pubmed:day
19
pubmed:volume
137
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
272-8
pubmed:dateRevised
2011-2-15
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005.
pubmed:affiliation
Laboratory for Thrombosis Research, Departement of Clinical Research, University of Bern, Bern, Switzerland.
pubmed:publicationType
Journal Article, Review, Case Reports