1,721,102 research outputs found
Factor X deficiency
No full textFactor X (FX) deficiency is a rare, recessively inherited bleeding disorder representing 10% of all rare bleeding diseases and affecting 1 in every 1,000,000 people. Its clinical presentation places FX deficiency among the most severe of the rare coagulation defects, typically including hemarthroses, hematomas, and umbilical cord, gastrointestinal, and central nervous system bleeding. Phenotype diagnosis is based on the concomitant prolongation of the prothrombin time and activated partial thromboplastin time. Through the measurement of plasma level of FX antigen and its coagulant activity, two main types of deficiency can be distinguished: type I (concomitantly low levels of activity and antigen) and type II (low coagulant activity, but normal or borderline antigen levels). FX protein is mainly synthesized by the liver and is encoded by a gene ( F10) of 27 kb located on chromosome 13, containing 8 exons. One hundred five mutations on F10 have been identified to date, 78% being missense mutations, with no hot-spot regions. There is no specific FX concentrate available, and current treatment includes the administration of fresh-frozen plasma or prothrombin complex concentrates (PCCs) containing FX in addition to other vitamin K-dependent factors. Administration of PCCs is associated with the risk of thromboembolic complication due to the unknown concentrations of other coagulant factors; however, to overcome this problem, a concentrate containing well-defined amounts of FX (and FIX) has recently been develope
The role of factor X in blood coagulation : clinical, phenotypic and molecular analysis of a severe rare bleeding disorder
No full textDuring 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 diseas
Nota sulla provenienza del dipinto
No full textLe autrici hanno indagato negli archivi della famiglia Hercolani di Bologna, in quelli romani statali, comunali e vaticani nel tentativo di risalire alla provenienza del Trionfo di Bacco di Dosso Dossi oggi nel Museum of Art di Bombay, ma proveniente dal camerino di Alfonso I d'Este a Ferrara. Sono state apportate importanti precisazioni sulla storia dei proprietari e sui passaggi di proprietà del dipinto nel corso del Sei e del Settecento. Lucia Menegatti e responsabile delle pp. 49-54, Alessandra Pattanaro delle pp. 55-61
European registry of rare bleeding disorders
No full textRare bleeding disorders (RBDs) are autosomal recessive diseases including the deficiencies of coagulation factors such as fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. Their prevalence in the general population varies from 1 in 500.000 for FVII and FXI deficiency up to 1 in 2 million for FXIII deficiency. As a consequence of their rarity, the type and severity of bleeding symptoms, and the management of bleeding episodes, are not well established. A definition of clinical severity in RBDs is lacking and a large heterogeneity of clinical manifestations is observed in different RBDs. We tried to describe the general features of RBDs based on data from previously reported literature and on the results of three years of collaboration between 11 European treatment centers in the frame of a project funded in the European Union, entitled “Establishment of a European Network of Rare Bleeding Disorders: EN-RBD.” Our results might help to provide novel information on the clinical severity of the different RBDs and on its correlation to the laboratory phenotyp
Two adjacent homozygous mutations on EGF2 domain of factor X (FX) gene lead to severe FX deficiency
No full textRare bleeding disorders: worldwide efforts for classification, diagnosis, and management
No full textRare bleeding disorders (RBDs) comprise the inherited deficiencies of coagulation factors such as fibrinogen, factor (F)II, FV, FV + FVIII, FVII, FX, FXI, and FXIII, and are usually transmitted as autosomal recessive disorders. RBDs are characterized by a wide variety of symptoms from mild to severe; however, due to their rarity, only little information is available on the adequate management of patients affected with these deficiencies. Moreover, the limitations of laboratory assays and the lack of a definitive consensus concerning their classification have prevented adoption of optimal approaches to their individual management. To overcome these limitations, new strategies are therefore necessary, such as the establishment of global collaborations and networks among treatment centers, as well as increasing support provided by public health organizations
Dossier terremoto/2. Ferrara e provincia
No full textL'articolo offre una panoramica dei danni inferti dal terremoto del 20 e 29 maggio 2012 al patrimonio artistico di Ferrara e della sua provinci
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