[Clinical case of combined genetic pathology in a patient].

Family hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.911.6 mmol/l. Gilberts syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.

[Myocardial Contractile Function in Patients with Liver Cirrhosis and Syndrome of Bacterial Overgrowth Syndrome].

OBJECTIVE: to study myocardial contractile function in patients with liver cirrhosis and ascites in the presence of bacterial overgrowth syndrome (BOS) and pathological bacterial translocation. MATERIALS AND METHODS: We included in this study 59 patients with Child-Pugh class B and C liver cirrhosis (LC) of various etiology and ascites. Control group comprised 12 patients with ischemic heart disease complicated by chronic heart failure (CHF). Examination included history taking and laboratory and instrumental investigation. LC was diagnosed basing on clinical symptoms and instrumental studies. Child-Pugh and MELD scores were used for assessment of LC severity and prognosis. International ascites club grading system was used for evaluation of severity of ascites. Hydrogen breath test was applied for diagnosing BOS. Syndrome of pathological bacterial translocation was established based on blood levels of lipopolysaccharide-binding protein and detection of bacterial DNA in ascitic fluid. Structural-functional parameters of the myocardium and hemodynamics were assessed by echocardiography. Brain natriuretic peptide (BNP) concentration was measured in blood serum and ascitic fluid. RESULTS: In 13 of 59 patients with LC the hydrogen breath test was negative, in 33 positive and in 13 patients the positive hydrogen test was combined with the presence of BOS and pathological bacterial translocation. Blood serum and ascitic fluid BNP concentrations in LC patients were low and within normal limits (62.5±4.1 and 53.3±4.9 rg / ml, respectively), what contrasted with high BNP concentrations in patients with CHF (1820±95.5 and 497.1±39.6 rg / ml, respectively). Total protein level in ascitic fluid also was significantly lower in patients with LC than in patients with CHF (1.77±0.1 and 4.43±0.35 mg / dL, respectively). The serum-ascitic albumin gradient (SAAG) in both groups of patients exceeded 1.1 (1.58±0.13 in patients with CHF and 1.88±0.19 in patients with LC). Conclusions. In patients with liver cirrhosis the presence of BOS and bacterial translocation did not produce a distinct negative impact on contractile function.

Effect of metformin therapy on plasma adiponectin and leptin levels in obese and insulin resistant postmenopausal females with type 2 diabetes.

To investigate the relative role of the adiponectin and leptin in the insulin resistance (IR) and obesity we studied plasma levels of these adipocytokines in obese and insulin resistant postmenopausal (PM) females with type 2 diabetes (DM2) during 6 months of Metformin therapy. We recruited 26 PM women, between the ages of 50 and 67 (59,7+/-8,1 years). These women had a BMI of 36,6+/-1,8 kg/m2. After baseline measurements Metformin therapy has been initiated (1700+/-2550 mg per day). Duration of therapy was 6 months. The results of investigations of adipocytokines after Metformin 6 months therapy shown that circulating adiponectin levels were significantly increased (19,1+/-6,0 vs. 16,1+/-3,9 ng/ml, p=0,008) together with significant reduction of BMI (35,9+/-1,9 vs. 36,6+/-1,8 kg/m2, p=0,005) and IR (3,05+/-0,89 vs. 3,96+/-0,70, p<0,001). The magnitude of the change in adiponectin levels positively correlated with the magnitude of BMI reduction (r=0,4784, p=0,013) and IR reduction (r=0,5779, p=0,002). Any significant correlation did not observed between changes of leptin levels and BMI, leptin levels and IR. In summary, our data suggest that hypoadiponectinemia in PM may be explained by only IR because the amelioration of whole-body insulin action by 6-month Metformin therapy leads to increase of plasma adiponectin levels; leptin levels did not significantly change after 6-month Metformin therapy.

Plasma adipocytokine levels in obese and insulin resistant postmenopausal females with type 2 diabetes.

The objective of this study was to compare plasma levels of adiponectin and leptin in lean (LN), obese (OB) and obese diabetic (OD) postmenopausal females (PMF). We recruited 26 PM women (group 1, mean age - 59,7+/-8,1 years, BMI - 36,6+/-1,8 kg/m(2)). All women had their last menstrual flow more than 2 year before the study (mean duration of PM period was 11,9+/-8,3 years). No woman had received hormones within 3 months of this study. All Women were diabetic patients (mean duration of DM2 was 9,5+/-5,5 years). Ten obese (group 2; mean BMI - 35,9+/-2,3 kg/m(2) and age - 58,1+/-4,7 years) and ten lean (group 3; mean BMI - 22,3+/-1,9 kg/m(2) and age - 56,5+/-5,6 years) PM women were recruited as controls for comparing adipocytokine levels. Adiponectin was significantly decreased and leptin is significantly elevated in OD PMF in comparison with group 1 and 2 (p<0,001 and p=0,003, respectively). There was a tendency for adiponectin levels to be lower in OD PMF as compared with OB individuals (p=0,053). OD PMF were more insulin resistant than OB and LN subjects (p<0,001). Hypoadiponectinemia in PMF may be explained by IR and obesity. Leptin levels in OD PMF are not significantly different from leptin levels of OB subjects, although they significantly differ from leptin levels of LN individuals.

[Blood adiponectin and leptin levels in menopausal metabolic syndrome].

The aim of our investigation was the study of blood adiponectin and leptin levels in patients with menopausal metabolic syndrome (MMS) and their correlation with the parameters of MMS features. 40 females with menopause have been investigated. In 38 cases diabetes mellitus type 2 has been registered, and in 2 - impaired glucose tolerance. Mean duration of postmenopausal period was 11,1+/-7,4. Control group consisted of 10 females of postmenopausal age. The blood content of adiponectin and leptin was measured by ELISA. For MMS diagnostics WHO classification (2002) was applied. In basic group MMS was revealed in 37 patients, in control group - in 3 cases (chi(2)=19,53, p<0,001). It was not observed significant difference in blood adiponectin levels of basic and control groups (16,4+/-7,6 vs. 16,3+/-6,1, p=NS), but blood leptin level was significantly higher in study group in comparison with controls (166,7+105,3 vs. 60,3+/-51,0, p<0,001). Significant correlations of blood adiponectin and leptin levels with the parameters of MMS features were observed. Obtained results show that blood adiponectin level in MMS does not differ from the values in control group, although blood leptin level is significantly higher than the one among controls. They significantly correlated with the parameters of MMS features.