Role of some biomarkers of atherogenic risk in the screening for molecular defects in the low density lipoprotein receptor in severe hypercholesterolemia.

Background: Familial hypercholesterolemia is difficult to diagnose because of different expressions of the defective gene in low density lipoprotein (LDL) receptor mutation carriers and the presence of elevated LDL levels in noncarriers.

Aim: To study specific biomarkers of atherogenic risk in carriers and noncarriers of low density lipoprotein receptor (LDLR) defective gene and utilize them to screen in molecular biological analysis for defects in the LDL receptor (spot mutation and polymorphism) in severe hypercholesterolemia.

Patients And Methods: We investigated 120 patients after screening using the Simon-Broome criteria.

[Respiratory and hemodynamic disorders in the participants in the cleanup of the aftermath of the accident at the Chernobyl Atomic Electric Power Station].

After examination of cardiorespiratory function in 10 males exposed to Chernobyl accident unfavorable factors at the age of 31-45 years suffering from chronic obstructive bronchitis (7 cases) and mixed bronchial asthma (3 cases) it was established that the patients had ventilation disorders of mixed genesis (moderate obstructive and respiratory affections), frequently occurring decreased specific diffusion (DLCO/Va) in normal total diffusion capacity of the lungs, inefficient gas exchange, midly declined left ventricular pump capacity and contractility. In the above patients a relationship was found between parameters of central hemodynamics assessed at echo-CG and severity of ventilation impairment and respiratory insufficiency.