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Competing Interests: None declared.

Upshaw-Schulman syndrome (USS)-rare autosomal recessive disease that affects <1/1 000 000 individuals. It is characterized by the massive formation of platelet thrombi in the microcirculation accompanied by haemolytic anaemia, thrombocytopenia and clinical and laboratory signs of renal and neurological failure. USS is caused by mutations in the ADAMTS13 gene. Mutations in the ADAM metallopeptidase with thrombospondin type 1 motif 13  (ADAMTS13) gene can lead to disruption of secretion of this enzyme, or to decrease of enzyme proteinase activity without effect on ADAMTS13 secretion. The aim of this work is to describe a clinical case of USS caused by a new missense mutation in the ADAMTS13 gene. The diagnosis of thrombotic thrombocytopenic purpura was based on clinical signs and confirmed if plasma ADAMTS13 activity was <10%. ADAMTS13 gene sequencing was performed by the Sanger method using oligonucleotide primers of our own design. We found a new, undescribed mutation p.Trp387Ser in a TrpXXTrp motif. Previously, a pathogenic variation disrupting the 387TrpSerSerTrp390 motif of the ADAMTS13 protein was detected only once. Clinical picture of a patient with the combination of the p.Trp387Ser and p.Arg1060Trp variations is quite similar to that of the homozygous state of p.Arg1060Trp variant., (© 2022 John Wiley & Sons Australia, Ltd.)

The review discusses approaches to treatment of congenital thrombotic thrombocytopenic purpura (TTP) or Upshaw-Schulman syndrome. In congenital TTP, plasma transfusions are sufficient. Such treatment options as plasma exchange, administration of clotting factor VIII concentrate, recombinant ADAMTS13, are also used. Separately discussed issues of management of patients with TTP during pregnancy, and pediatric patients with TTP.

Aim: To study effects of avandia and its combination with metformine (avandamet) on secretion of fat tissue hormones., Material and Methods: The examination protocol for 42 patients with type 2 diabetes mellitus (DM) aged 62.4 +/- 7.7 years comprised tests for blood levels of leptin, soluble receptor to leptin, insulin, grelin, resistin and adiponectine., Results: The treatment resulted in reduction of fasting glycemia from 10.69 +/- 2.54 to 8.42 +/- 1.73 mmol/l, of glycosilated hemoglobin--from 8.1 + 1.6 to 7.75%, immunoreactive insulin--from 19.1 +/- 8.3 to 12.0 +/- 6.5 mg/ml, grelin--from 21.7 +/- 14.6 to 17.3 +/- 13.7 mg/ml, leptin--from 40.3 +/- 24.2 to 26.9 +/- 15.4 mg/ml, soluble receptor to leptin--from 17.9 +/- 4.5 to 13.1 +/- 3.5 mg/ml. LDLP and HDLP cholesterol was high., Conclusion: Avandia and avandamet are effective antidiabetic drugs with a beneficial effect on secretion of fat tissue hormones.

In this investigation shown the influence of traditional hypocaloric diet on condition carbohydrate, lipoid metabolism and concentration of ghrelin in type 2 diabetic patients. Our results show that diet therapy improves metabolic control, and as a result of a diet were normoglucaemia and decrease of ghrelin.

The fact that fat issue is an endocrine gland secreting several hormones participating in the pathogenesis of type 2 diabetes mellitus (DM2) is universally recognized. Fat issue secretes leptin, tumor necrosis factor alpha, resistin, adiponectin, interleukin-6, free fatty acids, visfatin, omentin, perilipin, and other substances that influence the condition of insulinoresistance, one of the main factors responsible for DM2. Subcutaneous fat and visceral depot fat tissue differ in the spectrum of hormones they produce; the list of these hormones is presented in the article. The presence of abdominal or visceral obesity is combined with significant insulinoresistance, which, in its turn, increases the risk of vascular complications of diabetes. The article also cover the participation of other mechanisms - insulin secretion defect, oxidation stress, low secretion of glucagon-like peptide 1, apoptosis, an increased quantity of amyloid and the fl-cell pull in the pancreatic island--in DM2 pathogenesis. The authors present data on the secretion of leptin, resistin, adiponectin, and tumor necrosis factor a, as well as the condition of the functional activity of beta-cells and the degree of insulinoresistance in 30 DM2 patients receiving dietotherapy.

In this investigation shown the influence of traditional hypocaloric diet on concentration of leptin level and leptin receptor in type 2 diabetic patients. Our results show that diet therapy improves metabolic control, and as a result of a diet were normoglucaemia and decrease of leptin and leptin receptor level in type 2 diabetic patients.

Aim: To study mexicor effects on functional activity of beta-cells, insulin resistance, lipid metabolism and lipid peroxidation in patients with diabetes mellitus (DM) type 2., Material and Methods: Twenty patients with DM type 2 participated in a double blind randomized trial of mexicor vs placebo. Before and after therapy the following parameters were studied: plasma glucose before meal, immunoreactive insulin, glycosilated hemoglobin, cholesterol, triglycerides, LDLP and HDLP cholesterol, malonic dialdehyde, dienic conjugates, superoxide dismutase, catalase, glutathione peroxidase and alpha-tocopherol., Results: Mexicor significantly improved compensation of carbohydrate metabolism by glucose and glycosylated hemoglobin in the blood, insulin resistance value, lipid metabolism and lipid peroxidation in activation of antioxidant enzymes., Conclusion: Mexicor in therapy of DM type 2 improves carbohydrate and lipid metabolism, lipid peroxidation, activates antioxidant defence enzymes, functional activity of beta-cells, reduces insulin resistance.

The purpose of the study was to investigate the effects of dietotherapy on oxidative stress (OS) condition, the fl-cell functional activity (BCFA), insulin resistance index (IRI), and the serum tumor necrosis factor alpha (alpha-TNF) level in patients with type 2 diabetes mellitus (DM 2). The subjects, 30 patients with DM 2 (9 men, 21 women), aged 42 to 70 (mean age 58.77 +/- 8.86 years), were examined. The duration of DM 2 in the subjects was from 1 month to 5 years. OS parameters, IRI and BCFA, as well as serum alpha-TNF were measured before the study and after 3 months of observation. The tests performed after the end of the study showed that hydrocarbonate exchange remained compensated, and IRI and BCFA were moderately lowered in DM 2 patients on dietotherapy. There was an insignificant elevation of serum alpha-TNF, while the condition of hydrocarbonate exchange had bettered. Changes in OS parameters in patients on dietotherapy evidence that the reserve activity of anti-oxidative system enzymes decreases. Thus, the compensation of hydrocarbonate exchange in DM 2 patients on dietotherapy retains, which is accompanied by a decrease in IRI and BCFA, while serum alpha-TNFincreases insignificantly, and reserved anti-oxidative system enzyme activity decreases moderately.

It was investigated the influence of traditional hypocaloric diet on dynamic of glucaemia, insulin resistance, beta-cell function, lipid peroxidation, level of hormone resistin and enzymes of antioxidant system in type 2 diabetic patients. Our results show that diet therapy improves metabolic control in type 2 diabetic patients, and as a result of a diet were normoglucaemia, decrease of insulin resistance, lipid peroxidation, but also decrease of enzymes of antioxidant system and moderate decrease of beta-cell function.