We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a r...

We describe five cases of severe a1-antitrypsin (AAT) deficiency to illustrate the importance of visual inspection of electrophoretic patterns of serum proteins. In four patients the diagnosis of AAT deficiency was clinically unsuspected; in the other patient, the electrophoretic pattern was the first clue to confirm the diagnosis. Densitometric scanning of these patterns invariably overestimat...

fasting serum chromium, total cholesterol hdl-cholesterol, ldl-cholesterol, triacytglycerot and blood sugar were determined in fifty two diabetic patients with no other organic diseases anil compared with those obtained from a control group including fourty two healthy volunteers matched for age, sex ami body mass irutex (bmi). fasting serum chromium and hdl-cholesterol were significantly lower...

Abstract In the last twenty years Leucine Rich Repeat Kinase 2 (LRRK2) has received immense attention due to its association with several diseases, for example, neurodegenerative disease PD (Parkinson’s Disease), inflammatory bowel (IBD), Crohn’s (CD), infectious Leprosy etc. Not only do genetic mutations make this protein a hotspot various diseases but also it shows some pleotropic characteris...

Vitamins k is an important fat-soluble vitamin that can be obtained from plants, bacteria and animals necessary for the blood clotting. It plays a key function as cofactor in synthesizing of clotting proteins liver; recently, interest its functions extra-hepatic tissue has increased. Vitamin deficiency usually caused by abnormal absorption rather than lack food. Apart impact on clotting, chroni...

statement of problem: periodontal disease (pd) has been linked to adverse cardiovascular events by unknown mechanisms. c-reactive protein (crp) is a prognostic marker for cardiovascular disease, with reported elevated serum levels during pd. purpose: the aim of the present study was to evaluate the association between pd and higher crp levels in the serum of acute myocardial infarction (ami) pa...

Drone brood is a little-known bee product, often treated as beekeeping waste or natural varroosis bait. Obtaining drone from beehives does not weaken the family, which why this product used medicine in Eastern European countries. The main objective of work was to design an innovative dietary supplement containing freeze-dried (DB) enriched with calcium ions (3:1). As component, inorganic carbon...

Yeast frataxin homolog (Yfh1) is the orthologue of human frataxin, a mitochondrial protein whose deficiency causes Friedreich Ataxia. Yfh1 deficiency activates Aft1, a transcription factor governing iron homeostasis in yeast cells. Although the mechanisms causing this activation are not completely understood, it is assumed that it may be caused by iron-sulfur deficiency. However, several eviden...