Plasma protein-C exerts anticoagulatory effects by inactivating factors V and VIII. Hereditary protein C deficiency is transmitted as an autosomal dominant disorder. Homozygous individuals usually develop purpura fulminans as newborns; heterozygous protein C-deficient individuals are at increased risk for venous thrombosis and pulmonary embolism. However, arterial thrombosis occurring as a resu...

Cardiomyopathy is currently the leading cause of death for patients with Duchenne muscular dystrophy (DMD), a severe neuromuscular disorder affecting young boys. Animal models have provided insight into mechanisms by which dystrophin protein deficiency causes cardiomyopathy, but there remains need to develop human DMD validate pathogenic and identify therapeutic targets. Here, we developed engi...

We investigated sex difference in the influence of dietary protein deficiency on the fate of methylmercury (MeHg) using both sexes of C57BL/6N mice and Wistar rats to determine the universality of the influence. One day after oral administration of MeHg (20 mol/kg), regardless of sex and species, urinary Hg excretion was suppressed by dietary protein deficiency, whereas fecal excretion was not ...

53 persons suspected to alpha1-antitrypsin deficiency detection (AATD) were investigated for ZZ, MZ, ZS, SS, and MS alleles analysis by serum protein electrophoresis (SPE), measurement of trypsin inhibiting capacity (TIC), isoelectric focusing (IEF), polymerase chain reaction (PCR), and IEF/PCR-RFLP techniques. The result clearly shows by using SPE and TIC techniques only 35.85 % and 50.08% of ...

We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the sk...

coagulaon factor xiii gene, protein structure and funcon coagulaon factor xiii (fxiii) is a tetrameric (fxiii- a2b2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. congenital fxiii deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a freque...

A nine-month old male child presented with low-grade fever, loose stools and facial puffiness. Clinically patient was otherwise normal except for a firm liver on palpation. The laboratory tests revealed hypoproteinemia (both albumin and globulin) and iron deficiency anemia. Differential diagnosis considered were: 1. Nephrotic syndrome, 2. Cystic fibrosis (in view of recurrent diarrhea and respi...