Vol 55, No 3 (2009)

Clinical endocrinology
MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia
Dedov I.I., Zubkova N.A., Arbatskaya N.Y., Akopova A.G., Tyul'pakov A.N.
Abstract

Maturity-onset diabetes of the young (MODY) is a clinically heterogenic group of diseases, with an autosomal dominant mode of inheritance and gene mutations resulting in dysfunction of pancreatic β cells. The type of diabetes and further treatment policy can be reliably determined on the basis of the data of a molecular genetic study that confirms gene mutations. Today there are known mutations of 8 genes, of which glucokinase (GCK) gene mutation that leads to the development of MODY2 and occurs most frequently. The spread of this mutation among DM patients in our country has not been studied. The diagnosis of MODY2 was established in 13 members of 5 families with the clinical picture typical of this type. The molecular genetic study revealed 4 new and 1 earlier described mutations. The findings extend ideas on the molecular bases of MODY, which creates conditions for improving the diagnosis of this disease, genetic counseling and the development of pathogenetically founded approaches to treatment.

Problems of Endocrinology. 2009;55(3):3-7
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Insulin resistance in obese children: debate on assessment
Vasyukova O.V., Vitebskaya A.V.
Abstract

No age- and gender-adjusted criteria remain to be a main problem the investigators face when studying insulin resistance in children. This paper compares insulin resistance (IR) indices in 63 children and adolescents with simple (constitutionally exogenous) obesity. The authors demonstrated a low reproducibility of individual baseline values of insulin (not more than 26% as shown by Pearsons correlation analysis). Estimation of IR by means of the design indices calculated from the fasting concentration of immunoreactive insulin and glucose: 40% of obese children and adolescents had no fit of baseline IR indices with the results of an oral glucose tolerance test (OGTT), which may result in a diagnostic error - both hyperdiagnosis (in 12% of patients) and hypodiagnosis (18% of children). According to the results of this study, the values of stimulated insulin release and the Matsuda index, which were determined from the OGTT data, are of the highest diagnostic value in the assessment of insulin resistance in obesity in children and adolescents.

Problems of Endocrinology. 2009;55(3):8-12
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Role of adipokines and nonesterified fatty acids in the development of insulin resistance
Tanyanskiy D.A., Firova E.M., Shatilina L.V., Denisenko A.D.
Abstract

The purpose of the study was to reveal a possible role of adipokines, biologically active adipose tissue proteins (leptin and adiponectin) and nonesterified fatty acids in generating insulin resistance (IR). One hundred and fifty-seven patients (90 females and 67 males) aged 57.5±9.2 years were enrolled in the study. According to the HOMA index for IR, the patients were divided into 3 equal groups. The examinees with a high HOMA index were found to have elevated levels of fatty acids, leptin and decreased concentrations of adiponectin. At the same time according to the linear regression analysis, all these indices are its independent determinants. However, analysis of the data in the groups of patients with different body weight revealed that the increased concentrations of fatty acids and leptin may play a role in the development of IR in subjects with obesity while the higher level of fatty acids and lower adiponectin may be involved in patients without noticeable obesity. Thus, it may be assumed that leptin, adiponectin and nonesterified fatty acids may affect the development of IR; however, their contribution depends on the degree of adiposity.

Problems of Endocrinology. 2009;55(3):13-16
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The level of antibodies to pneumococcal vaccine in children and adolescents with type 1 diabetes
Kostinov M.P., Skochilova T.V., Tarasova A.A., Vorob'eva V.A., Korovkina T.I., Lukachev I.V., Yushkova I.Y., Yastrebova N.E.
Abstract

The trend in the formation of postvaccinal antibodies (Ab) to a mixture of S. pneumoniae polysaccharides (PS) was studied in 100 Pneumo 23-vaccinated children and adolescents with type 1 diabetic (T1D) (Group 1, n = 72) and its combination with the subunit vaccine Grippol (Group 2, n = 28). Following 1-1.5 months, the protective level of Ab l 40 conventional units (CU/ml) was revealed in 95.1 and 85.2% of Groups 1 and 2, respectively; and after 1 year, this was in 55.1 and 37%, respectively (p > 0.05). The level of formation of IgG Ab to a PS mixture did not depend on the age of patients, the duration of T1D, the presence of late diabetic complications. A relationship was found between the formation of postvaccinal Ab and their baseline level: in patients with very low (< 10 CU/ml) and low (10-20 CU/ml) levels of Ab after administration of pneumococcal vaccine, the level of IgG Ab to a S. pneumoniae PS mixture increased by 8.8-4.1 times in the early periods and exceeded the baseline levels by 4.8-2.8 times, respectively. The putative protective level of IgG AB to a S. pneumoniae PS mixture is proposed to be l 20 CU/ml.

Problems of Endocrinology. 2009;55(3):17-20
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Cardiac functional reserve and left ventricular parameters in patients with diffuse toxic goiter after drug correction of euthyroidism with thiamazol
Sviridenko N.Y., Tugeeva E.F., Aripov M.A., Buziashvili Y.I.
Abstract

The aim of the investigation was to assess the time course of structural-and-functional and spatiogeometric changes following drug correction of euthyroidism in patients with diffuse toxic goiter and to determine prospects for restoring the cardiac functional reserve after elimination of thyrotoxicosis. The geometric parameters of the left ventricle (LV) and the readings of tissue Doppler echocardiography and exercise tests were compared in 27 female patients (mean age 53.3±9.2 years) who had thyrotoxicosis and 6 months after thyrosole-induced normalization of thyroid-stimulating and thyroid hormone. There were significant increases in myocardial mass and peak systolic and diastolic mitral ring motion rates and an increasing trend for LV linear sizes after correction of euthyroidism. Despite the fact that there were no significant differences in the majority of LV geometric parameters, with euthyroidism achievement, the cardiac functional reserve doubled as compared with the baseline values (105.7±11.4 and 57.8±14.7 W, respectively; p < 0.001), but remained below the control level (148.7±11.7 W; p < 0.05), which may contribute to the development of heart failure in future under certain conditions.

Problems of Endocrinology. 2009;55(3):21-24
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The cardiovascular system in patients with symptomatic and mild primary hyperparathyroidism
Voronenko I.V., Mokrysheva N.G., Rozhinskaya L.Y., Syrkin A.L.
Abstract

The cardiovascular system was analyzed in patients with symptomatic (n = 31) and mild primary hyperparathyroidism (n = 34) whose mean age was 54.6 years; 95% females). In the patients with symptomatic primary hyperparathyroidism, the PQ interval was longer and the QT interval was significantly shorter than those in patients with mild hyperparathyroidism. Left ventricular hypertrophy was noted in 45.2% of patients with symptomatic and in 15.2% of those with mild hyperparathyroidism (p = 0.013). Left ventricular diastolic dysfunction was also more common in the group of symptomatic hyperparathyroidism. There was a statistically significant correlation between the levels of parathyroid hormone, total and ionized calcium and the duration of QT interval and the determinants of diastolic function and left ventricular hypertrophy. The revealed cardiovascular disorders in patients with primary hyperparathyroidism are presumed to depend on the increase rate of parathyroid hormone and total and ionized calcium.

Problems of Endocrinology. 2009;55(3):25-29
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Pseudohypoparathyroidism: genetic aspects
Gerasimenko O.A., Dzeranova L.K., Rozhinskaya L.Y.
Abstract

The review of literature details the issues of genetics, the specific features of inheritance, the clinical picture and treatment of pseudohypoparathyroidisms (PHPT). In practice, clinicians more frequently deal with type 1 PHPT and the diagnosis of this type creates no significant problems. However, despite the low prevalence of the other types of PHPT - 1b, 1c, and 2, the diseases may run with noticeably clinical symptoms and present a significant problem in the context of diagnosis and treatment. This review may be of concern to both clinicians and geneticists who are interested in this problem.

Problems of Endocrinology. 2009;55(3):30-33
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Diagnostic capacities of determination of biologically active free testosterone in blood, by using current ultrafiltration techniques
Malysheva N.M., Katsiya G.V., Goncharov N.P.
Abstract

In most cases, current methods for immunoassay of blood total testosterone fail to provide a sufficient diagnostic accuracy. The authors measured the concentration of free testosterone in the blood and saliva samples from 189 males aged 19 to 83 years who had come to the clinic to confirm or exclude the diagnosis of various endocrine dysfunctions. Ultrafiltration had been previously carried on Amicon® Ultra membrane 30K filters (MILLIPORE) to determine the serum level of free testosterone. The ultrasensitive enhanced luminescence technique (IBL-Hamburg, Germany) was used to measure its concentration in the ultrafiltrate and saliva. The detection rate of androgen deficiency from the levels of free testosterone in the ultrafiltrate was higher than that from those of total testosterone and calculated free testosterone in blood. The preultrafiltration salivary and serum free testosterone values measured by the ultrasensitive enhanced luminescence technique may complement a sensitive marker of clinical symptoms to detect different forms of androgenic disorders.

Problems of Endocrinology. 2009;55(3):34-36
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Testosterone level in male patients with coronary heart disease and essential hypertension
Kravchenko A.Y., Provotorov V.M.
Abstract

The study was undertaken to ascertain the prevalence of age-related androgen deficiency in patients with coronary heart disease (CHD) and essential hypertension under the age of 60 years and its association with some risk factors. The study covered 107 patients (mean age 50.2±7.2 years). Of them 35 patients had essential hypertension and 72 had CHD, angina on exertion. The blood concentrations of testosterone and cholesterol were measured; the presence and type of adiposity and the level of depression were determined. The mean level of testosterone in patients with CHD and essential hypertension (9.2±0.96 n/mol/l) corresponded to an androgen-deficient state. There was a direct correlation of testosterone concentrations with waist circumference and an inverse correlation with the levels of atherogenic lipoproteins and depression.

Problems of Endocrinology. 2009;55(3):37-39
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Experimental endocrinology
DNA fragmentation rate in human thyroid tissue and carcinomas and its change under the influence of a-tocopherol and iodine ions in vitro
Mishunina T.M., Kalinichenko E.V., Tronko N.D.
Abstract

The rate of DNA fragmentation was studied in intact thyroid tissue and thyroid carcinoma tissue. The determination of low molecular-weight DNA concentrations and the electrophoretic analysis of DNA isolated from the thyroid tissues and tumors, followed by the calculation of the content of oligonucleosome fractions, indicated a drastic reduction in the DNA fragmentation rate in papillary carcinomas and no its significant changes in follicular carcinomas. In the intact thyroid tissue, α-tocopherol and potassium iodide at a concentration of 10-7 M inhibited the rate of stimulated DNA fragmentation in vitro. The agents showed no effect in the papillary carcinoma tissue and their effect was similar in the follicular carcinoma tissue, but it was less pronounced in intact thyroid tissue.

Problems of Endocrinology. 2009;55(3):40-44
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Effect of a complex of corticosteroids with apolipoprotein A-I on protein biosynthesis in cultured hepatocytes
Panin L.E., Polyakov L.M., Usynin I.F., Sumenkova D.V., Knyazev R.A.
Abstract

A complex of apolipoprotein A-I with steroid hormones containing reduced Δ4, 3-ketogroup in the A ring was shown to increase the rate of protein synthesis in the cultured rat hepatocytes. The biological activity of the hormones depends on the position of the oxygroup of the third carbonic atom and hydrogen at the fifth position of a carbonic atom. The cis-position is more preferable for the biological effect. The oxygroup at the third position of the A-ring may be replaced by the sulfo-group. The complex of dehydroepiandrosterone sulphate with apolipoprotein A-I increases the rate of protein biosynthesis in the cultured rat hepatocytes, which confirms the involvement of this hormone in the regulation of gene expression.

Problems of Endocrinology. 2009;55(3):45-47
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Reviews
Endocrine aspects of the pathogenesis of cancer of the cervix uteri. New possibilities of primary prophylaxis
Uzhegova Z.A., Grigoryan O.R., Andreeva E.N.
Abstract

The review gives updates on the pathogenesis of background, precancer, and cancer of the cervix uteri. Epidemiological and molecular biological studies have established that human papillomavirus infection is the most important factor of carcinogenesis of the cervix uteri. The impact of reproductive dysfunction on the development of cervical pathology has been assessed and a possible mechanism of involvement of sex steroids in carcinogenesis assumed.

Problems of Endocrinology. 2009;55(3):48-53
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Obituary
In memory of Mikhail Ivanovich Balabolkin
 
Abstract

Mikhail I. Balabolkin died on February 8, 2009, at the 75th year of life after a serious and prolonged illness. Professor M.I. Balabolkin was an outstanding scientist, head of the Department of Endocrinology of the Faculty of Postgraduate Professional Education for Medical Doctors of Moscow medical academy n.a. I.M.Sechenov.

Problems of Endocrinology. 2009;55(3):54-54
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