0000000000191375

AUTHOR

Muriel Giansily-blaizot

showing 5 related works from this author

Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER

2010

Abstract Abstract 665 Introduction Prophylaxis is considered a difficult endeavour in FVII deficiency, especially because of the very short FVII zymogen and FVIIa half-lives, mainly in childhood. The Seven Treatment Evaluation Registry (STER, www.targetseven.org) is a prospective observational, multi-centre, web-based registry concerned with the evaluation of treatments for spontaneous bleeding episodes, surgery and prophylaxis in patients with FVII deficiency. As regards prophylaxis, STER provides the frame for a structured and detailed data capture aiming at: a) identifying patients in whom prophylaxis is advisable, b) defining clinical settings in which prophylaxis is necessary and c) de…

Gastrointestinal bleedingPediatricsmedicine.medical_specialtybusiness.industryImmunologyCell BiologyHematologyHemarthrosismedicine.diseaseBiochemistryRegimenConcomitantSeverity of illnessmedicineProphylaxis in Factor VII deficiency inherited Factor VII deficiencyObservational studyDosingFresh frozen plasmabusinessBlood
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Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies

2016

Introduction A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. Aim Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. Methods A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed. Results In our cohort (N = 449; 215 male, 234 female), the higher prevalence…

MalePediatricsFactor VII Deficiency030204 cardiovascular system & hematologyCohort Studieschemistry.chemical_compound0302 clinical medicineAntifibrinolytic agentgynaecological bleedingRegistriesChildGenetics (clinical)Aged 80 and overFactor VIIIncidence (epidemiology)Hazard ratio[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyHematologyGeneral MedicineFactor VIIMiddle AgedAntifibrinolytic AgentsRecombinant Proteins3. Good healthPhenotypeTreatment OutcomeChild PreschoolCohortFemalewomengynaecological bleeding; inherited factor VII deficiency; recombinant activated factor VII; womenCohort studyAdultmedicine.medical_specialtyAdolescentMucocutaneous zoneHemorrhageFactor VIIaYoung Adult03 medical and health sciencesmedicineHumansMenorrhagiaAgedProportional Hazards ModelsCoagulantsbusiness.industryProportional hazards modelInfantrecombinant activated factor VIISurgeryROC Curvechemistryinherited factor VII deficiencybusiness030215 immunology
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Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

2013

WOS: 000319897700018

RegistrieSevere bleedingAdultMalePediatricsmedicine.medical_specialtyTime FactorsTime FactorAdolescentFactor VII DeficiencyPROPHYLAXIS FACTOR VII DEFICIENCYFactor VIIachemistry.chemical_compoundPlasmaYoung AdultMedicineHumansRegistriesYoung adultFactor VII deficiencyChildFactor VIIbusiness.industryInfantHematologyRecombinant ProteinFactor VIIMiddle Agedmedicine.diseaseThrombosisRecombinant ProteinsClinical trialTreatment OutcomechemistryTreatment evaluationWeekly doseChild PreschoolFemaleOriginal Articles and Brief ReportsbusinessHuman
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Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

2012

We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activit…

MaleProteasesHeterozygoteFactor VII DeficiencyEnzyme-Linked Immunosorbent AssayFVIIBiologymedicine.disease_causeThromboplastinTissue factorchemistry.chemical_compoundCarboxy-terminalhemic and lymphatic diseasesmedicineFACTOR VII DEFICIENCY MOLECULAR VARIANTSThromboplastinMissense mutationAnimalsHumanscardiovascular diseasesChildBlood CoagulationProthrombin timeMutationmedicine.diagnostic_testFactor VIIHomozygoteHematologyFactor VIIMiddle AgedMolecular biologyAsymptomatic; Carboxy-terminal; FVII; Mutation;AsymptomaticchemistryCoagulationCodon NonsenseMutationMutagenesis Site-DirectedProthrombin TimeCattleFemaleRabbitsOriginal Articles and Brief Reports
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Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery

2015

International audience

Malemedicine.medical_specialtyPediatricsWeb of scienceFactor VII Deficiency030204 cardiovascular system & hematology03 medical and health sciencesYoung Adult0302 clinical medicineInternal medicinemedicineHumansYoung adultAdverse effectFactor VII deficiencyChildAdverse events inherited factor VII deficiency replacement therapyGenetics (clinical)ComputingMilieux_MISCELLANEOUSHematologybusiness.industryInfant NewbornInfant[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyGeneral MedicineHematologyMiddle AgedInfant newborn3. Good healthSurgery030220 oncology & carcinogenesisChild PreschoolFemalebusiness
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