Vol 57, No 2 (2011)

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia
Dedov I.I., Tikhonovich I.V., Petriaikina E.E., Rybkina I.G., Volkov I.É., Stotikova O.V., Chernykh L.G., Tiulpakov A.N.
Abstract
Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.
Problems of Endocrinology. 2011;57(2):3-8
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The influence of insulin resistance and disturbances of carbohydrate metabolism in the acute period of myocardial infarction
Kvitkova L.V., Elenskaia T.S., Blagoveshchenskaia O.P., Zinchuk S.F., Zinchuk V.G., Barbarash O.L.
Abstract
This work was designed to study parameters of carbohydrate metabolism and insulin resistance (IR) in patients presenting with myocardial infarction (MI) and elucidate their relation to MI complications. Special attention was given to the relationship between disturbances of carbohydrate metabolism (DCM), the clinical course of myocardial infarction in the acute and cicatrization phases, characteristics of coronary arteries in the patients with and without diabetes mellitus (groups 2 and 1 respectively). Insulin resistance was documented in 83.2% of the patients. Multiple lesions in the coronary arteries were shown to be directly related to the immunoreactive insulin (IRI) level (r=0.277; p=0.0008) and HOMA index (r=0.304; p=0.0001). They were more common in patients with IR (86%; p<0.001). The clinical course of MI was more frequently complicated by early post-infarction angina, MI relapses, and heart failure (Killip functional class II) in the patients presenting with a combination of IR and DCM than in those showing normal sensitivity to insulin regardless of the characteristics of carbohydrate metabolism. It is concluded that the detection and correction of insulin resistance and disturbances of carbohydrate metabolism are the indispensable prerequisites for the successful prevention of myocardial infarction.
Problems of Endocrinology. 2011;57(2):9-13
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The role of body weight reduction and treatment with metformin in the recovery of the menstrual function in women presenting with polycystic ovary syndrome and excessive body weight
Popova P.V., Riazantseva E.M., Zazerskaia I.E., Ivanova L.I., Grineva E.N.
Abstract
A total of 40 women presenting with polycystic ovary syndrome (PCOS) and excessive body weight/obesity were randomly allocated to 3 groups. The patients in group 1 were advised to change the life style (including consumption of a low-calory diet and regular physical exercises), those making up group 2 had to change the life style and take metformin (850 mg twice daily), the patients of group 3 used metformin without modifying their life style. Thirty three patients completed the study. Those in groups 1 (n=14) and 2 (n=10) experienced a similar significant reduction of both the body weight and the HOMA index. In group 3 (n=9), these characteristics remained virtually unaltered. The fraction of women displaying the positive menstrual response during the treatment was not significantly different in groups 1 and 2 (50 and 60% respectively; p=0.77) whereas none of the patients in group 3 showed the positive menstrual response (the difference between this and the two previous groups was significant; p=0.035). A significant decrease in the testosterone level was documented in the women of group 2. The authors conclude that it was the reduction of the body weight rather than regular intake of metformin at a daily dose of 1700 mg that contributed to the improvement of the menstrual function in women with PCOS and the excessive body weight.
Problems of Endocrinology. 2011;57(2):14-18
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Age-related deficit of androgens in the male patients presenting with coronary heart disease
Frolov D.S., Khalimov I.S., Shustov S.B.
Abstract
A total of 51 men at a mean age of 55±5.2 years with coronary heart disease were available for examination. Twenty of them presented with confirmed age-related androgen deficiency while the remaining 31 had the testosterone level within the normal reference values. The study included characteristic of lipid and carbohydrate metabolism, diagnosis of obesity and its type, estimation of the depression level, echocardiographic imaging, 24-hour ECG monitoring, and myocardial perfusion scintigraphy. The patients with androgen deficiency were shown to more frequently suffer abdominal obesity and high-level depression than those with the normal testosterone level. Moreover, patients of the former group usually had atypical anginal syndrome. The deficit of androgens was not infrequently associated with a rise in the number of ventricular extrasystoles. The correlation analysis demonstrated a significant negative relationship between the total testosterone level, blood glucose and triglyceride levels, the duration of ST segment ischemic depression.
Problems of Endocrinology. 2011;57(2):19-22
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Anti-TSH receptor antibodies as predictors of the severity and outcome of endocrine ophthalmopathy in the patients presenting with Graves' disease
Sviridenko N.I., Likhvantseva V.G., Belovalova I.M., Sheremeta M.S., Tabeeva K.I.
Abstract
A total of 139 patients (278 eyes) presenting with Graves' disease (GD) and endocrine ophthalmopathy (EOP) were examined. The age of 35 men and 104 women ranged from 17 to 71 years. All of them were tested for the functional activity of the thyroid gland and underwent standard ophthalmologic examination; anti-TSH receptor antibodies were measured. Both the activity and severity of EOP were verified as recommended by the European Group on Graves' Orbitopathy (EUGOGO) It was shown that the frequency of detection of anti-TSH receptor antibodies and their titers in patients with GD and EOP depended on the activity of the intraorbital process and the severity of EOP manifestations. The functional state of the thyroid gland also influenced the level of anti-TSH receptor antibodies level during the active phase unlike that in the inactive phase. The in-depth analysis of the relationship between the level of anti-TSH receptor antibodies and clinical characteristics of either EOP (activity, severity, manifestation of selected clinical symptoms) or GD (thyrotoxicosis, euthyroidism, hypothyroidism) demonstrated the possibility to use these characteristics as the factors predicting the severity and outcome of EOP. Also, they may be helpful for the choice of a therapeutic strategy for the treatment of such patients.
Problems of Endocrinology. 2011;57(2):23-26
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The use of estriol for the treatment of atrophic vulvovaginitis in women with disturbances of carbohydrate metabolism in the peri- and postmenopausal period
Grigorian O.R., Andreeva E.N.
Abstract
Specific urogenital tract symptoms in women with diabetes mellitus are shown to directly correlate with the quality of compensation of carbohydrate metabolism while atrophic vulvovaginitis is both a consequence and an early marker of its decompensation. It is concluded that combined patogenetically sound treatment of acute and chronic "atrophic diabetic vulvitis" in patients presenting with disturbances of carbohydrate metabolism in the peri- and postmenopausal period should include Estrocard therapy, apart from thorough compensation of carbohydrate metabolism, in order to normalize the vaginal health index and the quality of life of the patients.
Problems of Endocrinology. 2011;57(2):27-31
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Alterations of the thyroid structure and function in experimental hypopinealism
Bondarenko L.A., Sergienko L.I., Sotnik N.N., Cherevko A.N.
Abstract
The pituitary-thyroid axis of young sexually mature rabbits kept under a 24-hour daylight photoperiod was shown to undergo phase-modulated variations of hormonal activity with its initial increase (during the first month) and subsequent progressive decrease (within 2-5 months after the onset of exposure to light). These changes correlated with the time-dependent fall in the blood T3, T4, and TSH levels. Simultaneously, the animals developed pathological changes in the histological structure of the thyroid gland similar to those in patients with secondary or tertiary hypothyroidism. It is concluded that hormonal and structural changes in the thyroid gland during long-term hypopinealism should be regarded as an experimental model of hypothyroidism of neuroendocrine origin.
Problems of Endocrinology. 2011;57(2):32-35
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A case of familial acromegaly
Verbovoĭ A.F., Sul'dina T.V.
Abstract
A case of familial acromegaly affecting mother and daughter is reported.
Problems of Endocrinology. 2011;57(2):36-38
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Pathophysiological mechanisms, clinical manifestations, and methods of therapy of hypothalamic obesity
Il'ina E.I., Strebkova N.A.
Abstract
The authors present the current literature data concerning pathogenesis and clinical manifestations of hypothalamic obesity along with methods of its treatment. Lesions in the hypothalamus associated with infiltrative processes, neoplastic growth, and consequences of medical interventions not infrequently lead to the development of obesity characterized by the rapid gain of body weight. The major factor contributing to this increase is the compromised function of the regulatory hypothalamic centres controlling the sense of hunger and satiation and the energy balance. This dysregulation is responsible for hyperphagia, vegetative disorders, reduced energy expenditure, and hyperinsulinemia. It is extremely difficult to control the body weight only by adhering to diet guidelines and altering the lifestyle. The weight-losing efficacy of the present-day pharmacotherapy targeted for modulation of insulin secretion and activation of sympathetic nervous system is rather low and does not ensure the desired prevention of the weight gain. More detailed information about the risk factors and pathogenetic mechanisms of hypothalamic obesity is needed to develop efficacious therapeutic strategies for the treatment of this condition.
Problems of Endocrinology. 2011;57(2):39-45
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Using of strontium ranelate in the treatment of postmenopausal osteoporosis
Zazerskaia I.E., Kuznetsova L.V.
Abstract
The current trends in the diagnostics and treatment of postmenopausal osteoporosis are considered. A review of the results of clinical studies of strontium ranelate in patients with this condition is presented. It is concluded that this agent may be an efficacious tool for the treatment of postmenopausal osteoporosis.
Problems of Endocrinology. 2011;57(2):46-51
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Differential diagnostics of primary hyperaldosteronism: The role and significance of comparative selective blood sampling from adrenal veins
Sitkin I.I., Fadeev V.V., Bel'tsevich D.G., Rogal' E.I., Molashenko N.V., Kolesnikova G.S.
Abstract
Primary hyperaldosteronism is known to be one of the commonnest causes of arterial hypertension. The authors propose a diagnostic protocol for primary hyperaldosteronism and a method for comparative selective blood sampling from adrenal veins. This method is described as the sole tool for differential diagnostics of different nosological forms of primary hyperaldosteronism. A clinical case of idiopathic hyperaldosteronism is presented.
Problems of Endocrinology. 2011;57(2):52-56
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