[Frequency view on genome changes testing]. / Frekvencní pohled na vysetrení odchylek genomu.

Laboratories dealing with human genome, both inherited and acquired changes, dispose with similar methods and technology. The spectrum of genetic tests is relatively broad and the number of mutations or variants tested differs substantially. Also the number of examinations carried out in individual laboratories varies. Data presented in the tables come from the year 2004 and indicate the number of examinations requested and number of positive results. Many laboratories mentioned in the registry CZDDNAL (http://www.uhkt.cz/lab_a_vysetreni/nr lab_dna_diag/dna_lab_db) perform the same tests but there is also a great number of tests carried out by only one laboratory. Reasons of the request, cost-effectiveness and clinical utility of genetic testing is being discussed.

Effects of body weight reduction on plasma leptin and adiponectin/leptin ratio in obese patients with type 1 diabetes mellitus.

The aim of this study was to explore the changes in the adipokines leptin and adiponectin in obese patients with type 1 diabetes mellitus (T1DM) who underwent seven days of fasting and 21 days of low-calorie diet (LCD). The plasma leptin and adiponectin concentrations were measured in 14 obese patients with T1DM at baseline, immediately after 7 days of fasting, and after 21 days of LCD. 13 non-obese patients with T1DM were studied only after an overnight fasting. Bioimpedance technique was used for determination of body composition. Obese T1DM patients lost 6.0 kg (6.0; 6.8) (median, 25 %; 75 %) and decreased their fat tissue after fasting and LCD. Plasma leptin in obese T1DM was significantly higher than in non-obese T1DM patients: 9.10 (5.06; 25.89) vs. 1.71 (1.12; 7.08) microg . l(-1) and transiently decreased immediately after fasting: 3.45 microg . l(-1) (1.47; 7.00), (P<0.05). Adiponectin/leptin ratio in obese T1DM was significantly lower than in non-obese T1DM patients: 0.67 (0.57; 1.49) vs. 3.50 (2.46; 6.30) . 10(3) and transiently increased immediately after fasting: 2.22 (1.26; 3.24) . 10(3), (P<0.05). We conclude that obese patients with T1DM are characterized by hyperleptinemia that is reduced by prolonged fasting, but only slightly affected by low calorie diet.

Omentin-1 plasma levels and cholesterol metabolism in obese patients with diabetes mellitus type 1: impact of weight reduction.

BACKGROUND: Omentin-1 is an anti-inflammatory adipokine produced preferentially by visceral adipose tissue. Plasma levels of omentin-1 are decreased in obesity and other insulin-resistant states. Insulin resistance contributes to the changes of cholesterol synthesis and absorption as well. The aim of this study was to characterise omentin-1 plasma levels in obese patients with diabetes mellitus type 1 during weight reduction, and to elucidate the relationship between cholesterol metabolism and omentin-1. METHODS: Plasma levels of omentin-1 were measured in obese type 1 diabetics (n=14, body mass index >30 kg m(-2), age 29-62 years) by enzyme-linked immunosorbent assay (BioVendor). Gas chromatography with flame ionisation detector (Fisons Plc.,) was used to measure squalene and non-cholesterol sterols-markers of cholesterol synthesis and absorption (phase I). Measurements were repeated after 1 month (phase II; 1 week of fasting in the hospital setting and 3 weeks on a diet containing 150 g saccharides per day) and after 1 year (phase III) on a diet with 225 g saccharides per day. RESULTS: Omentin-1 plasma levels were stable during phases I and II, but significantly increased (P<0.001) during phase III. Omentin-1 plasma dynamics were significantly associated with plasma levels of high-density lipoprotein (P=0.005) and triacylglycerols (P=0.01), as well as with lathosterol (P=0.03). CONCLUSION: Omentin-1 plasma levels significantly increased during the weight reduction programme. Omentin-1 plasma dynamics suggest a close relationship with cholesterol metabolism.

[Diagnosis of beta-thalassemia on the basis of HbA2 determination]. / Diagnostika beta-talasémie na základe stanovení HbA2.

The increased level of HbA2 is a reliable marker of heterozygous beta-thalassaemia. The levels of HbA2 measured by three different methods were compared and the ranges for the normal and for the heterozygous beta-thalassaemia were assessed. The levels of HbA2 2.76 +/- 0.47% for normal (30 blood donors) and 4.62 +/- 0.77% for beta-thalassaemia (50 patients) were obtained by the chromatographic method 2.61 +/- 0.42% HbA2 for normal (30 blood donors) and 5.82 +/- 0.89% HbA2 for beta-thalassaemia (46 patients) were assessed by electrophoresis on hydragel (Sebia) and 2.8 +/- 0.62% HbA2 for normal (30 blood donors) and 6.04 +/- 0.96% HbA2 (47 patients) were found when using cellulose acetate electrophoresis. An increased level of foetal Hb was found in nine patients with beta-thalassaemia. The diagnosis of beta-thalassaemia was confirmed by molecular genetic methods in all cases with an elevated HbA2 level, while a normal HbA2 level did not rule out heterozygous beta-thalassaemia.

[Chronic mesenteric ischemia]. / Chronická mezenteriální ischemie.

Chronic mesenteric ischemia often called intestinal angina too, is the clinical syndrome that originates as a result of chronic obstruction of the splanchnic arteries. Intestinal angina is defined by the clinical triad of postprandial abdominal pain, sitophobia (fear of eating) and chronic weight loss. Postprandial abdominal pain is analogous to angina pectoris and calf claudication, two more common manifestations of episodic tissue hypoxia. The authors present the case-history of a 50-year-old woman with intestinal angina due to obliteration of the all three main splanchnic arteries. The authors describe the course of the disease and point out new diagnostic approaches in the diagnosis of chronic mesenteric ischemia (Doppler ultrasound of the splanchnic arteries, helical CT angiography of the splanchnic vasculature). In the discussion they point out the possible atypical clinical manifestation of chronic mesenteric ischemia and existence of gastric ulceration and chronic ischemic gastritis caused by chronic mesenteric ischemia.

[Artificial nutrition in acute pancreatitis]. / Umelá výziva u akutní pankreatitidy.

The authors describe the administration of different types of artificial nutrition depending on the clinical condition of patients with acute pancreatitis. They summarize contemporary findings on the pathophysiology of the disease, evaluation of everity according to Ranson's criteria and the tactics of nutritional support in acute pancreatitis.

Effect of low calorie diet and controlled fasting on insulin sensitivity and glucose metabolism in obese patients with type 1 diabetes mellitus.

Obesity in T1DM patients is associated with the components of metabolic syndrome. The influence of controlled fasting and low calorie diet (LCD) on insulin sensitivity and glucose metabolism was studied in 14 obese patients with type 1 diabetes mellitus (T1DM) (42.6+/-9.4 years, BMI 32.4+/-2.1 kg m(-2)). Insulin sensitivity in obese T1DM patients was measured using a hyperinsulinemic-euglycemic clamp before fasting, immediately after 7 days of fasting, and after 21 days of LCD. Glucose oxidation and non-oxidative glucose disposal were measured before and during the clamp by indirect calorimetry. In the control group of 13 of non-obese T1DM patients (36.9+/-13.9 years, BMI 22.6+/-2.1 kg m(-2)), only one hyperinsulinemic-euglycemic clamp was performed. Obese T1DM patients lost 6.1+/-1.1 kg after fasting and maintained reduction in body weight after 21 days of LCD. Fasting transiently reduced insulin-mediated glucose disposal in the clamp (from 9.69+/-1.48 to 6.78+/-1.21 mg min(-1) kg(-1), P<0.001). This was caused by reduced glucose oxidation after the fasting period (from 2.81+/-0.52 to 0.88+/-0.98 mg min(-1) kg(-1), P<0.001). We conclude that one week of fasting transiently decreased insulin-mediated glucose disposal in T1DM patients. This was caused by reduced glucose oxidation.

Automatic lipid extraction and thin-layer chromatography application with a prgrammed flow system.

An eight-channel programmed flow system for automatic lipid extraction and TLC application is described. Each channel has a container for lipid extraction connected by Acidflex tubing through an AutoAnalyzer pump to a TLC applicator needle. Extraction containers are prepared from disposable Oxford sampler pipet tips by inserting a small cotton filter into their lower, narrower end, which is connected to the pump tubing. The applicator needles are supported vertically in a manifold, and their tips rest on a TLC plate placed on a hot plate. Serum is added to isopropanol in each extraction container, and proteins are completely precipitated in 2 min and retained in the extraction chambers by the cotton filters; lipid extracts are then transferred on to the heated TLC plate by intermittent pumping at a rate allowing for continuous evaporation of isopropanol under streams of warmed air or nitrogen. The lipids accumulate on the plate in eight small spots, one for each channel. Solvent is proportionally added into the extraction chambers from a common reservoir through Acidflex tubing in a second AutoAnalyzer pump. During the extraction procedure, both pump motors are automatically operated by a programmed timer with a solid-state switch. Of several different solvents tested, isopropanol is the fastest for protein precipitation and lipid extraction and does not extract substances from the Acidflex tubing which interfere with chromatographic separation.

Prophylactic treatment of posttraumatic epilepsy: results of a long-term follow-up in Czechoslovakia.

The results of a long-term study of prophylactic treatment of posttraumatic epilepsy performed in Czechoslovakia during the years 1963 through 1980 are reported. The prophylactically treated group of 144 patients with severe brain injuries was compared with a control group of 24 equally damaged cases without prophylactic treatment. The preventive treatment lasting 2 years in the great majority of cases was performed with relatively low doses of phenytoin (160--240 mg/day) and phenobarbital (30--60 mg/day) administered orally. The incidence of late posttraumatic epilepsy was 25% in the control and 2.1% in the prophylactically treated group. Only one patient (0.7%), however, developed seizures during the course of the prophylactic treatment. The efficiency of prophylactic pharmacotherapy has been proved in long-term observations lasting 8 to 13 years.