mannose-binding lectin (mbl) is a protein of innate immune system that is involved in opsonization and complement activation. mbl deficiency is associated with predisposition to infectious diseases; however subnormal levels are also seen in healthy subjects. the aim of this study was to investigate the prevalence and clinical manifestation of mbl deficiency in patients with increased susceptibi...

this review summarizes current data on the pathomechanisms and new genetic findings of combined factor v and viii deficiency (cf5f8d). congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. among dual coagulation disorders, cf5f8d is the most common type. for the first time combined factor v and viii deficiency (f5f8d) was reported b...

We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...

The protein C pathway has an important function in regulating and modulating blood coagulation and ensuring patency of the microcirculation. Protein C deficiency leads to macro- and microvascular thrombosis. Congenital severe protein C deficiency is a life-threatening state with neonatal purpura fulminans and pronounced coagulopathy. Patients with heterozygous protein C deficiency have an incre...

Many investigations into the effects of malnutrition have as their background the severe calorie and protein deficiencies associated with underdeveloped countries (McCance EL Widdowson, 1968). Mr Miller has already demonstrated that the protein value of a diet is best expressed as net dietary-protein calories yo (NDpCal%), a value that can be obtained by biological assay (Platt & Miller, 1959)....

the bulk of our knowledge on immunosuppression in malnutrition comes from the experiments done on cell-mediated immunity. however, malnutrition-induced modifications of humoral immunity have been less understood. the objective of this study was to determine the effects of acute protein-energy malnutrition on serum levels of immunoglobulins and their subclasses in murine models. male and female ...

RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and accumulation of amylopectin in skeletal muscle. The amylopectinosis myopathy cardiomyopathy. pathogenesis poorly investigated may include unnoticed re...

Protein S is the vitamin K dependent cofactor of activated protein C. It has an important role in the regulation of blood coagulation and fibrinolysis. Hereditary protein S deficiency is associated with familial venous thrombophilia. Since a few patients with arterial occlusions have been reported to be protein S deficient, it is speculated that hereditary protein S deficiency may be also a ris...