0000000000281679

AUTHOR

Pierpaolo Caruso

showing 2 related works from this author

Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors.

2009

Combined deficiency of the vitamin K-dependent clotting factors (VKCFD) is a rare bleeding disorder involving defective gamma-carboxylation of coagulation factors II , VII, IX and X as well as natural anticoagulants protein C and protein S. The disease is characterized by a cluster of different, often life threatening, bleeding symptoms occurring both spontaneously and in a surgical setting. In the present paper we describe two different treatment modalities to be used both in a programmed surgical procedure and in an emergency scenario. As this disease is a natural model that resembles oral anticoagulation, our experience discloses a possible rationale in the use of recombinant activated …

VitaminAdultmedicine.medical_specialtyVitamin KBiopsyFactor VII DeficiencyHereditary Combined Deficiency of Vitamin K-dependent Clotting FactorsBlood Loss SurgicalDiseaseFactor VIIaGastroenterologyMixed Function Oxygenaseschemistry.chemical_compoundBlood Coagulation Disorders InheritedInternal medicineVitamin K Epoxide ReductasesGastroscopymedicineHumansRare Inherited Bleeding disorders Minor SurgeryOral anticoagulationClotting factorbusiness.industryHomozygoteWarfarinHematologyGeneral MedicineFactor VIIHemostasis SurgicalRecombinant ProteinsSurgeryCoagulationchemistryHemostasisTooth ExtractionFemaleBlood Coagulation TestsbusinessProtein Cmedicine.drugClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
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VITAMIN K-INDUCED MODIFICATION OF COAGULATION PHENOTYPE IN VKORC1 HOMOZYGOUS DEFICIENCY

2008

Summary.  Background: Combined vitamin K-dependent clotting factor (VKCF) deficiency type 2 (VKCFD2) is a rare bleeding disorder caused by mutated vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1) gene. Methods and results: An Italian patient with moderate to severe bleeding tendency was genotyped, and found to be homozygous for the unique VKORC1 mutation (Arg98Trp) so far detected in VKCFD2. The activity levels of VKCFs were differentially reduced, and inversely related to the previously estimated affinity of procoagulant factor propeptides for the γ-carboxylase. The normal (factor IX) or reduced antigen levels (other VKCFs) produced a gradient in specific activities. Vitamin K su…

Adultmedicine.medical_specialtycoagulation factor levelsVitamin KProtein SMixed Function OxygenasesTissue factorchemistry.chemical_compoundInternal medicineVitamin K Epoxide ReductasesmedicineVKCFD2HumansFactor IXClotting factorCoagulation factor levels; Thrombin generation; Vitamin K supplementation; VKCFD2; VKORC1 mutation;biologyFactor VIIChemistryFactor XHomozygotevitamin K supplementationHematologyBlood Coagulation DisordersEndocrinologyTreatment OutcomeCoagulationthrombin generationImmunologyMutationbiology.proteinFemaleBlood Coagulation TestsVKCFD2 VKORC1 mutation coagulation factor levels thrombin generation vitamin K supplementationProtein Cmedicine.drugHalf-LifeVKORC1 mutation
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