The role of factor X in blood coagulation : clinical, phenotypic and molecular analysis of a severe rare bleeding disorder
Tesi di Dottorato
Data di Pubblicazione:
2010
Citazione:
The role of factor X in blood coagulation : clinical, phenotypic and molecular analysis of a severe rare bleeding disorder / M. Menegatti ; F. Peyvandi, P. Corradini. ex-DIPARTIMENTO DI MEDICINA INTERNA, 2010 Jan 14. 22. ciclo, Anno Accademico 2008/2009.
Abstract:
During these three-years PhD we analyzed the clinical, phenotypic and molecular aspects of a rare bleeding disorder: the Factor X (FX) deficiency. We contributed to:
create a new European database for collecting data on rare bleeding disorders (RBDs) based on a common data collection model and computer technology to obtain consistent statistic data that may be useful for the drafting of definitive guidelines
confirm that the prevalence of FX within RBDs is about 8%
demonstrate that FX deficiency is among the most severe disorders and patients suffering from it present severe bleedings such as haematoma and haemarthrosis as well as central nervous system, gastrointestinal tract and umbilical cord bleedings
describe heterozygous subjects presenting bleeding episodes, only sporadically reported
increase by 10% the number of causative genetic mutations and identify a rare case of FX deficiency associated to a chromosomal deletion
reports new structure/function protein relations through the characterization of some of the identified mutations by in vitro studies on recombinant wild type and mutant FXs such as: transient and stable transfections techniques, immunofluorescence analyses as well as pulse-chase experiments.
In conclusion the obtained results allow to deepen the comprehension of genetic aspects and underlying mechanisms that might clarify the pathogenesis and, in future, improve the diagnosis and the treatment, for this rare but highly disabling disease
Tipologia IRIS:
13 - Tesi di dottorato discussa entro ottobre 2010
Elenco autori:
M. Menegatti
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