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

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.

The role of factor X in blood coagulation : clinical, phenotypic and molecular analysis of a severe rare bleeding disorder

M. Menegatti
2010

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
14-gen-2010
Settore MED/09 - Medicina Interna
PEYVANDI, FLORA
CORRADINI, PAOLO
Doctoral Thesis
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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/212697
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