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.
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- "Hemarthrosis is rarely described . VKCFD can sometimes cause fatal intracranial haemorrhage in the first weeks of life, which is similar to the haemorrhagic disease the newborns that results form acquired vitamin K deficiency [6,7,16]. The case of a woman with persistent menorrhagia, but whose worst bleeding episodes occurred mainly in a surgical scenario, such as post-partum haemorrhage and haemoperitoneum following ovarian cyst rupture, has been described . "
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 07/2010; 5:21. DOI:10.1186/1750-1172-5-21 · 3.96 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: Congenital bleeding disorders of the vitamin K-dependent coagulation factors represent only about 15-20% of all congenital bleeding disorders. However, they played an important role of the history of blood coagulation. Prothrombin was the first entity dealt with. Subsequently, in the late 1940s or early 1950s, the discovery of factor IX allowed the separation of hemophilia into two groups, A and B. In the 1950s, the discovery of factors VII and X allowed the formulation of a logic and plausible explanation for the clotting mechanism. The subsequent discovery of vitamin K-dependent proteins with an inhibitory effect on blood coagulation has further enhanced the importance of the vitamin K-dependent clotting factors. Recently, the study of families with multiple defects of the prothrombin complex has spurred the interest in vitamin K metabolism and the gamma-carboxylation system. The relevance of these studies had also an important role in the understanding the mechanism of action of other noncoagulation-related proteins. The vitamin K-dependent clotting factors represent a homeostatic mechanism at the basis of the hypercoagulability (thrombosis)-hypocoagulability (hemorrhagic) system, namely, to a mechanism that is vital for survival. The different bleeding condition will be dealt with separately, namely, prothrombin or Factor II, Factor VII, Factor IX (hemophilia B), and Factor X deficiencies. An additional heading deals with the combined defect of the prothrombin complex, namely, combined deficiency of Factor II, Factor VII, Factor IX, and Factor X. Since, sometimes, a hemorrhagic role has been attributed to Protein Z deficiency, another vitamin K-dependent protein, this defect will also be dealt with, even though briefly. Each deficiency has been approached in a global manner, namely, with adequate reference to history, background, prevalence, classification, hereditary pattern, biochemistry and function, molecular biology, clinical picture, updated laboratory diagnosis, prognosis, and therapy. Particular emphasis has been placed on the significance of cases with "true" deficiency [cross-reacting material (CRM negative)] and cases with abnormalities (CRM positive). The genetic, clinical, and laboratory implications of these two forms have been extensively discussed in every instance. The importance of a multiple, combined diagnostic approach that has to include whenever possible clotting, chromogenic, immunological, and molecular biology studies has been underlined. Clotting tests have to be carried out using different activating agents since results may vary, thereby indicating a different reactivity of the abnormal protein. Molecular biology techniques, alone, are unable to supply plausible diagnostic conclusions. In fact the genotype-phenotype relation has not been clarified so far for most of these bleeding conditions. Recent progress in management such as the use of recombinant factor concentrates, results of liver transplantation, and attempts at genetic therapy has been discussed. Potential complications of therapeutic measures have also been discussed. A section dealing with future putative aims of research in this field will close the chapter.Vitamins & Hormones 02/2008; 78:281-374. DOI:10.1016/S0083-6729(07)00014-3 · 1.78 Impact Factor