Vol 58, No 2 (2012)

Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population
Melikian M.A., Kareva M.A., Petriaĭkina E.E., Volkov I.É., Aver'ianova I.V., Kolomina I.G., Gurevich L.E., Peterkova V.A., Brusgaard K., Christesen H.T., Dedov I.I.
Abstract
Congenital hyperinsulinism (CHI) is a most frequent cause of persistent hypoglycemia in the children during the first year of life. This pathology is biochemically characterized by inadequate secretion of insulin by beta-cells of the pancreas. Congenital hyperinsulinism is a highly heterogeneous condition in terms of clinical manifestations, histological features, and molecular-genetic defects underlying the development of this disorder. A total of 9 genes are known to be involved in pathogenesis of CHI. The majority of the cases (40-60%) are attributable to the defects in KCNJ11 and ABCC8 genes encoding for the ATP-dependent potassium channels in the pancreatic cells. Approximately 15-20% cases are associated with the mutations of GCK and GLUD1 genes participating in the regulation of intracellular glucose metabolism. The results of clinical, hormonal, molecular-genetic, and histological examination of 42 children presenting with congenital hyperinsulinism are reported. These data were used to analyse the genotype-phenotype relationships.
Problems of Endocrinology. 2012;58(2):3-9
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Modern biochemical methods for the diagnostics of pheochromocytoma
Goncharov N.P., Katsiia G.V., Malysheva N.M.
Abstract
The objective of the present work was to estimate the possibility of using the ELISA technique for the quantitative analysis of the metanephrine and normetanephrine levels in urine and to determine the cross-off points for the discrimination between their normal and pathological values for the purpose of diagnostics of pheochromocytoma. Methylated derivatives of adrenaline and noradrenaline were measured in 3,234 urine sample obtained from the patients presenting with elevated arterial pressure, resistance to therapy, and adrenal mass lesions who had visited the inpatient and outpatient departments of the Endocrinological Research Centre during the past 4 years. The measurement of total metanephrine and normetanephrine (free plus deconjugated fractions) was performed using commercial ELISA kits (IBL, Hambutg, Germany). The content of normetanephrine over 612 mcg in daily urine samples was shown to be the borderline between the normal values and those suggesting diagnosis of pheochromocytoma. The sensitivity of this assay was 97,5% (95% CI 91,1-99,6%), specificity 100% (95% CI 93,8-100%). For metanephrine, the level of more than 550 mcg/24 hours was the borderline between the normal values and those suggesting diagnosis of pheochromocytoma. The sensitivity of the method was 100% (95% CI 88-100%), specificity - 96% (95% CI 86-99,4%). The biochemical diagnosis of pheochromocytoma was confirmed by the reference pathomorphological method in 99% of the cases. The incidence of pheochromocytoma predicted by the biochemical analysis of the urine samples delivered to the laboratory during 4 years from the patients with the tentative diagnosis of this pathology (based on the elevated arterial pressure and the presence of adrenal mass lesions) was 4% on the average. It is concluded that the application of ELISA in a "manual" mode provides high sensitivity and specificity of quantitative determination of metanephrines in daily urine comparable to those achieved with the widely used but more expensive high performance liquid chromatography.
Problems of Endocrinology. 2012;58(2):10-15
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Mammographic breast density in postmenopausal women presenting with the disturbances of carbohydrate metabolism and metabolic syndrome
Bershteĭn L.M., Vasil'ev D.A., Poroshina T.E., Kovalenko I.G.
Abstract
Mammographic breast density (MBD) was determined visually in 51 postmenopausal women examined in the fasting state and after oral glucose level for obtaining their anthropometric and laboratory characteristics. The women presenting with impaired glucose tolerance/newly diagnosed diabetes mellitus (n=16) had the same MBD values as those having no such disorders (n=35). In the presence of the symptoms of metabolic syndrome, mammographic breast density tended to decrease to 16.5±4.3% in 17 women compared with 24.4±3.1% in 34 women without such symptoms. The diabetes risk score, unlike the blood glucose and reactive insulin levels, showed negative correlation with the MBD values. Such inverse relationship was especially pronounced in the women with the disturbances of carbohydrate metabolism and symptoms of metabolic syndrome. The inverse correlation between these characteristics and MBD values showed the strong dependence on the body mass index. It is concluded that parameters associated with impaired glucose tolerance and metabolic syndrome considered to be risk factors of the development of breast cancer are unrelated to increased mammographic breast density which suggests the difference in the mechanisms responsible for hormonal and metabolic predisposition to these pathologies.
Problems of Endocrinology. 2012;58(2):16-20
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Potential of liraglutide (Victoza) in multifactor treatment approach in type 2 diabetes mellitus
Pashkova E.I.
Abstract
To study the efficacy of treatment with liraglutide in women with type 2 DM and NAFLD. A group of 10 women with type 2 DM and obesity, with T2DM duration 6 months - 2 years, drug naïve or getting 1000-2500 gr metformin for at least 6 months with ultrasound markers of fatty liver and elevated ALT without hepatic insufficiency. Weight, BMI, HbA1C, ALT, AST, hepatic elasticity were measured before liraglutide 1.2 mg daily and 6 month after treatment. We got significant reduction of weight, BMI, HbA1C, in all treated women. In 7 women ALT level normalization was seen, in 3 women - ALT level reduction by 43, 37, 40% respectively. In 5 patients with initial fibrosis elasticity normalization was seen. In 1 - decrease of fibrosis degree and only in 1 - no improvement. Liraglutide in women with T2DM and NAFLD for 6 month helps to achieve weight, BMI, HbA1C reduction as well as elevated ALT normalization and hepatic fibrosis decrease.
Problems of Endocrinology. 2012;58(2):21-24
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The action of metformin on the production of pro-inflammatory cytokines and insulin resistance (NF-kB signal pathway)
Lavrenko A.V., Kutsenko N.L., Kutsenko L.A., Mamontova T.V., Kaĭdashev I.P.
Abstract
The objective of the present study was to estimate the role of the NF-kB signal pathway in the realization of the anti-inflammatory and insulin-synthesizing activities of metformin in the patients presenting with coronary heart disease (CHD) associated with metabolic syndrome (MS). It was shown that the introduction of a one-month course of metformin therapy in the combined treatment of CHD resulted in the decreased production of pro-inflammatory cytokines, such as IL-1-beta, IL-6, IL-8, and TNF-alpha. Simultaneously, the serum C-peptide level decreased. These effects of metformin were mediated through the NF-kB-signal pathway. It is concluded that the inclusion of metformin in the combined treatment of coronary heart disease in the patients with metabolic syndrome prevent activation of NF-kB under the influence of endogeneous pro-inflammatory cytokines.
Problems of Endocrinology. 2012;58(2):25-28
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Selective blood sampling from the inferior petrosal sinuses for differential diagnostics of ACTH-dependent hypercortisolism (the original clinical experience)
Dreval' A.V., Komerdus I.V., Murzina A.V., Nechaeva O.A., Demidov I.N., Britvin T.A., Tishenina R.S., Gegenava B.B., Vishniakova M.V., Denisova L.B.
Abstract
This paper summarizes the original clinical experience of the authors concerning differential diagnostics of ACTH-dependent hypercortisolism. A total of 8 patients were available for the estimation of the potential of such diagnostics with the use of the high-dose dexamethasone suppression test, pituitary MRI, and selective blood sampling from the inferior petrosal sinuses for the determination of the ACTH concentration gradient between central and peripheral compartments. It turned out that neither the high-dose dexamethasone suppression test nor pituitary MRI provided unambiguous information about the source of ACTH hypersecretion whereas the use of selective blood sampling allowed to confirm the primary diagnosis of Cushing's disease in 4 patients and revise it in 2 others. In all the patients having the diagnosis established based on the results of selective blood sampling, it was confirmed after transsphenoidal adenomectomy. At the same time, the diagnosis of ACTH-ectopic syndrome was confirmed by an immunohistochemical method only in 1 of the 2 patients. Thus, the results of the present study indicate that selective blood sampling from the inferior petrosal sinuses is a valuable diagnostic tool which should be recommended for a wider application in endocrinological practice. However, this method failed to reveal lateralization of the tumours in all the examined patients.
Problems of Endocrinology. 2012;58(2):29-33
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Von Hippel-Lindau disease (VHL-syndrome)
Iukina M.I., Tiul'pakov A.N., Troshina E.A., Bel'tsevich D.G.
Abstract
Von Hippel-Lindau disease is a hereditary tumour syndrome associated with the earlier development of a variety of benign and malignant neoplasms, such as hemangioblastomas of the central nervous system and retina, tumours of the internal ear, renal carcinoma and cysts, pheochromocytoma, neuroendocrine tumours, pancreatic cysts, epididymal and broad ligament cystadenomas in men and women respectively. Von Hippel-Lindau disease is considered to be the most common cause of hereditary renal cancer.
Problems of Endocrinology. 2012;58(2):34-41
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Therapy of diabetes mellitus and the risk of malignization
Smirnova O.M., Ivannikova E.V.
Abstract
The safety of therapy of diabetes mellitus with hyperglycemic agents is a challenging problem in modern diabetology extensively discussed in the last years, with the special emphasis being laid on the associated risk of formation and development of various neoplasms. The main forms of cancer known to occur in association with type 2 diabetes mellitus are related to obesity and insulin resistance. It suggests the important role of various factors, besides hyperinsulinism and hyperglycemia, in cancer pathogenesis. The present review is designed to analyse the influence of insulin analogs, sulphonylurea derivatives, metformin, and thiazolidindiones on the risk of malignization in the patients with diabetes mellitus.
Problems of Endocrinology. 2012;58(2):52-57
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The advantages of the treatment of the patients with type 2 diabetes mellitus with gliclazide MR
Pekareva E.V.
Abstract
Type 2 diabetes mellitus (DM2) is a chronic condition characterized by progressive hyperglycemia resulting from beta-cell dysfunction and impaired insulin secretion. The maintenance of the target blood glucose level not only promotes preservation of the beta-cell pool but also reduces the risk of the development and progression of vascular complications of diabetes. This paper is designed to report the results of comparative investigations of the application of sulphonylurea derivatives for the treatment of the patients with type 2 diabetes mellitus.
Problems of Endocrinology. 2012;58(2):58-61
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Inflammation of the adipose tissue (part 7). Non-medicamental treatment
Shvarts V.I.
Abstract
This review contains experimental and clinical data on the suppression of inflammatory processes in the adipose tissue under effect of regular physical activity and low-calorie diet. An important role in the suppression of the inflammatory processes is played by the reduction of the degree of obesity, stimulation of glucocorticoid secretion, improvement of glucose tolerance, and activation of hormesis. The beneficial effects of low-calorie fat mimetics, such as omega-3-fatty acids and resveratol, naringenin, hesperidin, curcumin, and Mediterranian diet, are discussed.
Problems of Endocrinology. 2012;58(2):62-70
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On the history of endocrinology in Russia. L.V. Sobolev
Mel'nichenko G.A., Kandror V.I., Makolina N.P., Ivanova N.D.
Problems of Endocrinology. 2012;58(2):71-72
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