Publications by authors named "S Moratelli"

Article Synopsis
  • The study investigates inherited genetic defects in blood coagulation, focusing on the coagulation factor V gene and how mutations affect clinical phenotypes, which can lead to either bleeding or thrombosis disorders.
  • A family case study revealed a premature stop-codon mutation in the coagulation factor V gene that resulted in very low FV levels in the affected male, who experienced severe bleeding, while his father had a history of severe thrombosis.
  • Advanced coagulation tests indicated that the family members exhibited varying responses to activated protein C, providing insights into their contrasting clinical outcomes despite shared genetic backgrounds.
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Objectives: Warfarin oral anticoagulant therapy (OAT) requires regular and frequent drug adjustment monitored by INR. Interindividual variability, drug and diet interferences, and genetics (VKORC1 and CYP2C9) make the maintenance/reaching of stable INR a not so easy task. HPLC assessment of warfarin/enantiomers was suggested as a valid monitoring-tool along with INR, but definite results are still lacking.

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After acute myocardial infarction (MI) the damaged heart has to be repaired. Factor XIII (FXIII) is considered a key molecule in promoting heart healing. FXIII deficiency was associated to cardiac rupture and anomalous remodelling in MI.

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Von Willebrand disease (VWD) is an inherited bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (VWF). Replacement therapy with plasma-derived VWF/factor VIII (FVIII) concentrates is required in patients unresponsive to desmopressin. To assess the efficacy, safety and ease of use of a new, volume-reduced (VR) formulation of VWF/FVIII concentrate Haemate(®) P in patients requiring treatment for bleeding or prophylaxis for recurrent bleeding or for invasive procedures.

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