Congenital vitamin K-dependent coagulation factor deficiency: a case report.
ABSTRACT Congenital vitamin K-dependent coagulation factor deficiency is a very rare bleeding disorder, which usually presents with episodes of intracerebral bleed in the first few weeks of life, sometimes leading to a fatal outcome. We report a case of combined factor deficiency of vitamin K-dependent factors in which the patient presented with both intracerebral bleeding, and possibly also thrombosis, and responded to a vitamin K supplement along with fresh frozen plasma.
- SourceAvailable from: Alessandro Canella[Show abstract] [Hide abstract]
ABSTRACT: 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 FVII for warfarin reversal.Clinical and Applied Thrombosis/Hemostasis 02/2009; 16(2):221-3. · 1.58 Impact Factor
Article: Amargosa Sepiolite and Saponite[Show abstract] [Hide abstract]
ABSTRACT: Generally speaking, on a worldwide basis, such large commercial deposits of sepiolite and saponite are infrequent. For instance, presently, there are just three other commercial deposits of sepiolite being mined and processed: Spain, Turkey, and China.The Amargosa Valley, Nevada, presents a unique geological environment for the formation of sepiolite, and also of saponite in commercial quantities. During the Pliocene and Pleistocene, sepiolite formed by precipitation from fresh water containing soluble silica and magnesium. Then as the salinity of the water increased, and other factors changed, saponite precipitated.The lath structure of sepiolite, its dispersibility in fresh or saline water, and its thermal stability give it viscosity and suspension properties in fresh or salt water drilling, and even in geothermal drilling applications. Further, the lath structure of sepiolite results in abundant external and internal surface areas, an excellent property for applications requiring absorption and adsorption of various liquids, such as greases, oils, and chemicals, and animal wastes (the largest world sorption market for sepiolite is for pet litter). In addition, the low cation exchange capacity and chemical inertness of this lath structure allow it to absorb and adsorb pharmaceuticals, pesticides, and herbicides without significant degradation of active ingredients. Another physical property of sepiolite, that is, less than 2 μm lath length, renders it suitable in emulsions, coatings, undercoatings, caulks, retardants, binders, joining compounds, etc.Saponite also has competitive advantage in geothermal drilling. Because of its sheet structure and/or gelling properties, saponite is used in formulations of construction materials and environmental sealants and liners.
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ABSTRACT: Hereditary combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X as well as natural anticoagulants protein C, protein S and protein Z. The spectrum of bleeding symptoms ranges from mild to severe with onset in the neonatal period in severe cases. The bleeding symptoms are often life-threatening, occur both spontaneously and in a surgical setting, and usually involve the skin and mucosae. A range of non-haemostatic symptoms are often present, including developmental and skeletal anomalies. VKCFD is an autosomal recessive disorder caused by mutations in the genes of either gamma-glutamyl carboxylase or vitamin K2,3-epoxide reductase complex. These two proteins are necessary for gamma-carboxylation, a post-synthetic modification that allows coagulation proteins to display their proper function. The developmental and skeletal anomalies seen in VKCFD are the result of defective gamma-carboxylation of a number of non-haemostatic proteins. Diagnostic differentiation from other conditions, both congenital and acquired, is mandatory and genotype analysis is needed to confirm the defect. Vitamin K administration is the mainstay of therapy in VKCFD, with plasma supplementation during surgery or severe bleeding episodes. In addition, prothrombin complex concentrates and combination therapy with recombinant activated FVII and vitamin K supplementation may constitute alternative treatment options. The overall prognosis is good and with the availability of several effective therapeutic options, VKCFD has only a small impact on the quality of life of affected patients.Orphanet Journal of Rare Diseases 01/2010; 5:21. · 4.32 Impact Factor