Vol 60, No 6 (2014)

Dimorphism -23HphI in the INS gene (rs689): the association with type 1 diabetes mellitus in the populations of the Russian Federation, the inter-population comparison of the frequencies
Ivanova O.N., Stepanova S.M., Smirnova N.B., Zvereva Y.S., Suntsov Y.I., Bardymova T.P., Danilova G.I., Kovalenko T.V., Titovich E.V., Kuraeva T.L., Peterkova V.A., Dedov I.I.
Abstract
Objective. The objective of the present study was to elucidate the association between dimorfism -23HphI in the INS gene (rs689) and type 1 diabetes mellitus in several populations of the Russian Federation and to compare the frequency of alleles of this dimorphism in different populations. Material and methods. The case-control association was investigated in five populations of the Russian Federation, viz. Russian, Bashkir, Udmurtian, Yakutian, and Buryat ones. The DNA samples from 528 patients presenting with type 1 diabetes mellitus and 439 control subjects were available for the investigation, Polymorphism typing was performed using the RFLP-PCR technique. The degree of association of the trait of interest with the disease was estimated based on the odd ratio (OR) values. The calculations were made with the use of Statistica software package, version 6, www.statsoff.com and Microsoft Office Excel-2003. Results. The statistically significant association of type 1 diabetes mellitus with T allele and AA rs689 genotype was documented for the Russian, Bashkir, Udmurtian, and Yakutian populations. The protective marker in these populations were T allele and T+ genotype. A similar association was not found for the Buryat population characterized by the lowest diabetes morbidity rate. This population was significantly different from the remaining ones in the high frequency of A allele (87% vs 69-75%; p є [0.0002-0.004]) and AA genotype (77% vs 45-60%; p є [0.00006-0.01]). Conclusion. This study has demonstrated the inter-population differences in the frequency of rs689 alleles and the population-specific differences in the association of rs689 alleles with type 1 diabetes mellitus. It is concluded that the consideration of population-related peculiarities of clinical and genetic associations is an indispensable precondition for the further development of personalized medicine.
Problems of Endocrinology. 2014;60(6):4-9
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The levels of immunoreactive proteins and cytokines in the blood of the patients presenting with autoimmune thyroid diseases
Maklakova T.P., Zorina V.N., Shapel’ T.T., Boiko O.N., Zorina R.M., Zorin N.A.
Abstract
We determined the levels of TSH, free T4 (fT4), immunoregulatory proteins (alpha-2-macroglobulin (α2-MG), lactoferrin (LF), alpha-1-antitripsin (α1-AT) , and cytokines (TNF-alpha, IL-6, IFN-gamma)) in the blood of 50 women presenting with diffuse toxic goiter (DTG) and 35 women with autoimmune thyroiditis (AIT) before and 4-6 months after the treatment. Thirty healthy women served as controls. Hypothyroidism in the outcome of AIT was associated with hypercytokinemia and the enhanced levels of a2-MG and LF, but not a1-AT. The treatment had no effect on these parameters but normalized the TSH and T4 levels. Manifest DTG was associated with the increased IFN-gamma, IL-6, α2-MG, LF, and α1-AT levels . The treatment during 4-6 months resulted in the reduction of the IL-6 and α2-MG levels whereas the hormonal status of the patients became normal. The persistence of certain disturbances suggested that dysfunction of the immune system was not totally corrected despite the normalization of the hormonal status and could be interpreted as the risk factor of a relapse of thyroid pathology.
Problems of Endocrinology. 2014;60(6):10-13
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Expression of estrogen and androgen receptors in tissues of external genitalia of girls with congenital adrenal hyperplasia
Kopylova I.V., Sysoeva V.Y., Glybina T.M., Kareva M.A.
Abstract
The reason of post-operative introital stenosis in girls with CAH is a poor estrogenization of external genitalia before vaginoplasty. It is possible that the local sensitivity to estrogens can be reduced due to prenatal androgen excess in addition to inadequate compensation, which results to decrease of estrogens production by the ovaries. Objective. To determine the distribution of estrogen and androgen receptors in genital tissue, depending on the form of CAH, the degree of external virilization and serum levels of androgens. Material and methods. The waste surgical tissues obtained during routine feminizing genitoplasty (clitoro- and vaginoplasty) was used for immunohistochemical study of estrogen (α and β) and androgen receptors in girls with CAH (n=13 and n=8, respectively). Results. The expression of estrogen (α, β) and androgen receptors was determined in genital tissues of girls with CAH. There was no significant correlation between the number of immunopositive cells in the tissues of labia minora and vagina and the degree of virilization, as well as between the number of cells expressing the receptors and serum levels of androgens (testosterone, 17-hydroxyprogesterone). There was no difference in the expression of estrogen and androgen receptors between girls with salt-wasting and simple virilizing forms of CAH. The expression of estrogen receptor α in vaginal tissues was reduced in girls who underwent repeated vaginoplasty and were under preoperative local estrogen therapy in comparison to patients in whom the vaginoplasty was performed for the first time (p=0.045). Conclusion. The distribution of estrogen and androgen receptors in the labial and vaginal tissues in girls with CAH doesn’t depend on the form of disease, external virilization and serum levels of androgens. Girls undergoing repeated vaginoplasty may have a reduced sensitivity to local estrogen therapy due to decrease of estrogen receptors expression in the vaginal mucosa.
Problems of Endocrinology. 2014;60(6):14-20
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The fifty two week study of the effectiveness and safety of Apidra insulin therapy in combination with Lantus insulin in the children and adolescents with type 1 diabetes mellitus and poor glycemic control
Peterkova V.A., Kuraeva T.L., Andrianova E.A., Titovich E.V., Svetlova G.N., Petryaikina E.E., Bashnina E.B., Malievsky O.A., Taranushenko T.E., Votyakova O.I., Kovalenko T.V., Kovarenko M.A.
Abstract
The present multi-center non-randomized open prospective phase IV study was carried out based at 8 clinical centers of the Russian Federation. It included 89 patients at the age from 6 to 17 years suffering from type 1 diabetes mellitus during a period over 1 year. The children treated with Lantus (insulin glargin) in combination with any short-acting insulin in accordance with the basal-bolus regime and having the HbA1c level from=>8% to =<10% were transferred to Apidra (insulin glulisine) therapy in combination with Lantus insulin. The number of patients in the first age group (6-12 years) having the HbA1c level <8% within 12 months after the onset of therapy was 51.1%. However, only 31.1% of them, did not experience episodes of symptomatic hypoglycemia during this period with the blood glucose level =< 3.1 mmol/l. In the age group 2 (13-17 years), 31.1% of the patients reached the target HbA1c level <7.5% during the 12 month treatment period, but only 13.3% had no episodes of symptomatic hypoglycemia of =<3.1 mmol/l during this period. The HbA1c level in groups 1 and 2 decreased from 8.75±0.6 to 8.05 ±1.06% (p=0.046658) and from 8.77±0.58 to 7.96±1.12% (p=0.017533) respectively. The requirements for insulin in either group did not significantly change throughout the study period. A total of 1866 hypoglycemic episodes were recorded (i.e. 20.73 episodes per patient) including 90.8% of daytime and 9.2% of nocturnal hypoglycemia; symptomatic hypoglycemia accounted for 98.8% of all the cases and asymptomatic one for 1.2%. Fifty three (0.35%) cases were interpreted as severe hypoglycemia (blood glucose level ≤2 mmol/l), five (0.27%) patients had to be hospitalized . Hypoglycemic episodes were not documented in 13 children.
Problems of Endocrinology. 2014;60(6):21-28
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Medicamental treatment of Itsenko-Cushing’s disease. The current state-of-the art
Melnichenko G.A., Popovich V., Rozhinskaya L.Y., Belaya Z.E.
Abstract
Itsenko-Cushing’s disease (ICD) is a severe progressive neuroendocrine pathology characterized by the heterogeneous clinical picture and the high risk of complications. The main goals of ICD therapy include the total removal or the pituitary neoplasm or the reduction of its volume and/or stabilization of its growth, normalization of the cortisol level and secretion rhythm, the achievement of reverse development of clinical manifestations, and the retention of the pituitary hormonal function with a minimal risk of relapses. At present, both the improved methods for diagnostics of ICD and the development of its pharmacotherapy are needed. In the routine clinical practice, ICD is usually treated with the medicines of the following groups: blockers of glucocorticoid receptors and steroidogenesis, dophamine receptor antagonists, and multi-ligand somatostatin analogs. The evidence-based substantiation for the use of the above preparations was provided by the retrospective studies with the description of a series of cases which substantially restricts the reliable interpretation of the data on the effectiveness and safety of various medicines applied to manage the patients presenting with Itsenko-Cushing’s disease. The multi-ligand somatostatin analog pasiretoide is the sole preparation approved for the treatment of adult patients suffering ICD whose surgical treatment is either ineffective or impossible. The evaluation of the effectiveness and safety of pasiretoide therapy is based on the results of the prospective randomized double-blind classical study in which two doses of pasiretoide were used. By month 6 after the onset of the treatment with pasiretoide, the median of the daily decrease of the urinary cortisol level in the patients with ICD was 47.9%. The safety profile of this medication proved to be similar with that of other somatostatin analogs, with the exception of the higher frequency of hyperglycemia. Pasiretoide, like other somatostatin analogs, most frequently caused such adverse reactions as gastrointestinal disorders. At the same time, it ensured the stable reduction of the cortisol level by suppressing the ACTH production, and thereby decreased the main manifestations of hypercortisolism, induced clinical and hormonal remission, and improved the quality of life of the patients suffering Itsenko-Cushing’s disease.
Problems of Endocrinology. 2014;60(6):29-37
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The role of the genetic factors in pathogenesis of hypogonadotropic hypogonadism
Eneva N.G., Nefedova L.N., Loktionova A.S., Ilovaiskaya I.A., Kim A.I.
Abstract
Modern diagnostics of hypogonadism is based on the results of X-ray and laboratory (biochemical) investigations that reveal the idiopathic form of the disease in the majority of the patients. However, the recent studies have demonstrated a number of genes, whose disturbed function may be responsible for the development of hypogonadism. This creates the prerequisites for the extension of diagnostics of hypogonadism by means of genotyping of the various forms of the pathology in question and thereby may facilitate the choice of the relevant treatment strategy. The present review is focused on the elucidation of the pathogenetic role of candidate genes involved in the development of isolated hypogonadotropic hypogonadism.
Problems of Endocrinology. 2014;60(6):38-44
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RAS-pathies: Noonan syndrome and other related diseases. The literature review
Faassen M.V.
Abstract
The present review considers a group of diseases, known as Ras-pathies, formed in 2010. One of its representatives is Noonan syndrome is encountered in the pediatric practice in the first place as a syndrome accompanied by right-hand side cardiological disorders and short stature. The multiple molecular-genetic mechanisms underlying Noonan syndrome are associated with the activity of PTPN11, SOS1, and other genes. The group of RAS-pathies includes, besides Noonan syndrome, type 1 neurofibromatosis, Noonan syndrome with multiple lentigo (LEOPARD), craniofaciocutaneous syndrome, capillary and arteriovenous malformation syndrome, Costello syndrome, and Legius syndrome. All these conditions are associated with the molecular disturbances in the Ras/MAPK cascade that produce the characteristic clinical picture apparent as multiple dysembryogenic stigmata, short stature, cardiac disorders, and predisposition to the neoplastic growth.
Problems of Endocrinology. 2014;60(6):45-52
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The federal clinical recommendations on diagnostics and treatment of congenital hypothyroidism in the children
Chikulaeva O.A.
Abstract
Congenital hypothyroidism is a cause of frequent inborn thyroid disorders. The deficiency of thyroid hormones markedly slows down the development of the nervous system and psychomotor functions of the newborn infant. Early diagnostics and well-timed beginning of the treatment of this condition make it possible to significantly improve the mental development of the child. This communication proposes the project of clinical recommendations on diagnostics and treatment of congenital hypothyroidism in the children for the extensive discussion.
Problems of Endocrinology. 2014;60(6):53-66
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The federal clinical recommendations on diagnostics and treatment of toxic goiter
Troshina E.A., Sviridenko N.Y., Vanushko V.E., Rumyantsev P.O., Fadeev V.V., Petunina N.A.
Abstract
The proposed clinical recommendations discuss the modern approaches to diagnostics and treatment of the diseases with the clinical picture of thyrotoxicosis.
Problems of Endocrinology. 2014;60(6):67-77
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