Vol 57, No 1 (2011)

Molecular-genetic, immunological bases and prophylaxis of diabetes mellitus in children
Titovich E.V.
Abstract
Since the autoimmune nature of type 1 diabetes mellitus came to become known some 40 years ago, continuous investigations have been carried out in an attempt to improve approaches to prognostication of this disease and develop new safe and efficacious methods for its prevention. For all that, many aspects of diabetes pathogenesis still remain far from clear. In most cases (roughly 85%), type 1 diabetes mellitus (DM1) develops sporadically in the absence of a relevant familial or hereditary history of this condition. Accordingly, the first-degree relatives account for only 15% of all DM1 patients. The risk of development of DM1 in the Russian population estimated by the researchers of the Children' Department, Endocrinological Research Centre, is relatively low (0.2%). It depends on many factors, such as the number of ill and healthy relatives, the chronological age of a given patient and the age of onset of clinical manifestations in his (her) relatives. Type 1 diabetes-predisposing and protective haplotypes were identified in the Russian population based on the results of molecular-genetic studies involving 599 children and adolescents with DM1. These and immunological data were used to distinguish between risk groups in the families of diabetic patients and the rationale was proposed for the dynamic follow-up of these subjects. It is concluded that estimation of the risk of type 1 diabetes mellitus based on the results of molecular-genetic studies and monitoring immunological markers constitutes the first step in the elaboration of preventive measures designed to prevent or delay the development of the disease.
Problems of Endocrinology. 2011;57(1):9-18
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Genetic factors accounting for different type 1 diabetes morbidity levels in Europe and Russian Federation
Kuraeva T.L., Shiriaeva T.I., Titovich E.V., Prokof'ev S.A.
Abstract
Type 1 diabetes mellitus (DM1) is characterized by varying levels of morbidity in different populations and its overall increase in the majority of developed countries during the last 30 years. According to IDF, as many as 218,000 new cases of DM1 are registered annually all over the world of whom 75,800 (49%) are children at the age from 0 through 14 years. The yearly incremental increase of DM1 morbidity in this group is estimated at 3%. The marked ethnic variability of DM1 morbidity may be attributed to the different living conditions (environmental factors), population-related differences in the frequency of diabetes-predisposing and protective genetic markers, and the presence of specific markers in different populations. The population-based studies on the occurrence of molecular-genetic markers of DM1 in different ethnic groups confirmed the important role of genetic factors as predictors of diabetes and promoted the understanding of their contribution to the development of the disease in different ethnoses. The results of relevant original and published investigations are discussed.
Problems of Endocrinology. 2011;57(1):19-25
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The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)
Tiul'pakov A.N.
Abstract
Recent years have witnessed great progress in molecular genetics leading to impressive breakthroughs in medical sciences at large and in endocrinology in particular. The objective of the present article is to summarize information on the cases of monogenic hereditary endocrinopathies verified in the Endocrinological Research Centre during the 15 year period (1996-2010). These data are based on the analysis of 36 different genes associated with endocrine pathologies, such as hereditary forms of hypopytuitarism, disturbances of steroid hormone biosynthesis, abnormal gender formation, monogenic forms of diabetes mellitus, endocrine tumours, etc. The importance of molecular-genetic investigations for the treatment and prevention of endocrine diseases is discussed.
Problems of Endocrinology. 2011;57(1):26-34
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Osteoporosis: from a rare symptom of endocrine diseases to the tacit epidemic of XX-XXI centuries
Dedov I.I., Mel'nichenko G.A., Belaia Z.E., Rozhinskaia L.I.
Abstract
This article describes the history of knowledge management with special reference to primary and secondary osteoporosis, its epidemiology and diagnostics of different forms of this disease. The discussion is focused on therapeutic modalities for the treatment of osteoporosis based on the principles of evidence-based medicine. Special attention is given to the choice of optimal medicinal preparations for the management of primary osteoporosis taking into account results of multicenter randomized placebo-controlled clinical studies and the results of evaluation of the efficacy of various pharmaceutical for the treatment of secondary osteoporosis and its mixed forms. Some of these studies are carried out based at the Endocrinological Research Centre. Peculiarities of analysis of their results are discussed along with comparative characteristics of selected pharmaceuticals.
Problems of Endocrinology. 2011;57(1):35-45
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Acromegaly: recent progress in diagnostics and treatment
Molitvoslovova N.N.
Abstract
Acromegaly is a serious disease with different complications leads to reduced life expectancy and increase mortality. Only early diagnosis and modern methods of management of disease lead to remission. According to consensus on criteria for cure of acromegaly (2010) the measurement of GH and age-matched total IGF-I concentrations are the most important biochemical variables for the diagnosis of acromegaly and for monitoring progression or treatment response. The optimal disease control is now defined as IGF-I level in the age – adjusted normal range, random GH levels less than 1,0 µg/liter and nadir GH level during OGTT less than 0,4 µg/liter. MRI with use a contract substance is the best method of adenoma visualization. The trassphenoidal surgery with new technologies (endoscope, intraoperative blood sampling, neuronavigation, intraoperative MRI), radiosurgery, modern medical treatment (multiligand long-acting somatostatin analogs, GH receptor antagonist) are effective modalities for treatment of acromegaly, which elaborated last decades.
Problems of Endocrinology. 2011;57(1):46-59
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Iodine-deficiency disorders: lessons of history and time to make decisions
Troshina E.A.
Abstract
There are several lessons from the history of IDD control in the USSR that are of relevance for future IDD control programs in Russia and beyond. Sustainability of such programs is based on several pillars, including: Existence and rigorous enforcement of legislation or other legal acts regulating mandatory iodization of salt for human consumption; An effective monitoring system to track production, distribution and quality of iodized salt, as well as impact education, information and communication activities to ensure that IDD would not become a "forgotten" problem as happened in Russia at the end of the XX century.
Problems of Endocrinology. 2011;57(1):60-65
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Adrenogenital syndrome: past, present, and future
Kareva M.A., Orlova E.M.
Abstract
Adrenogenital syndrome is a group of pathological conditions with autosomal recessive inheritance underlain by the deficit of one of the enzymes involved in cortisol biosynthesis. The first clinical reports of patients with adrenogenital syndrome date back to the XIXth century. The literature of the early XXth century offers comprehensive clinical characteristics of the disease along with the first attempts at its classification. The progress in biochemistry and pharmacology in the mid-XX century provided knowledge for the explanation of the nature of adrenogenital syndrome and the development of methods of pathogenetically-grounded therapy of this pathology. The advent of the era of breakthroughs in molecular genetics was marked by the elucidation of underlying causes of congenital adrenal dysfunction. At present, neonatal screening makes it possible to diagnose adrenogenital syndrome in 100% of the patients and thereby ensure prevention of mortality from salt-losing crisis. Modern techniques are used not only for prenatal diagnostics but also for preimplantation prophylaxis of adrenogenital syndrome. At the same time, extensive investigations bring to light new forms of the disorder. Recent progress in genetics gives hope that even more efficacious methods of genotherapeutic modalities will be proposed for the management of chronic pathology in question.
Problems of Endocrinology. 2011;57(1):66-70
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Growth hormone - 20 years of clinical practice
Nagaeva E.V.
Abstract
Recombinant growth hormone (rGH) synthesized by the DNA recombination technology is available commercially since 1985. The advent of this product has greatly promoted a wider application of growth hormone therapy throughout the world and gave a powerful impetus to the investigations of its clinical efficiency, improved dosing schedules and methods of administration, facilitated reaching a final height, resulted in marked amelioration of the patients' quality of life, and extended the range of indications for the use of growth hormone preparations. A vast experience with the clinical use of rGH for the treatment of a variety of pathological conditions has been gained for the last 20 years. These include growth hormone deficiency in children and adults, syndromal and idiopathic short stature, intrauterine growth retardation, chronic renal insufficiency, juvenile idiopathic arthritis, and diseases of the hematopoietic system. Therapy with recombinant growth hormone is generally recognized to be efficacious and safe although the experience with its application for the treatment of certain diseases is insufficient and further accumulation of relevant data is needed.
Problems of Endocrinology. 2011;57(1):71-79
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A new approach to the screening for early disturbances in carbohydrate metabolism
Misnikova I.V., Dreval' A.V., Barsukov I.A.
Abstract
The results of a population-based study involving 2 638 adult subjects residing in two districts of the Moscow region are considered in terms of the currently available screening models for detection of disturbances in carbohydrate metabolism; a new screening modality is proposed. The merits and demerits of different screening models were evaluated based on the comparison of validity of different diagnostic tests deduced from the estimation of sensitivity, specificity, and prognostic value of positive and negative results; the ROC-curve was constructed. It was shown that screening based on diagnostics of disturbances in carbohydrate metabolism from the fasting blood glucose level (FBGL) alone according to 2006 WHO diabetes criteria fails to reveal type 2 diabetes mellitus (DM2) in every fifth patient. Screening with partial exclusion of the oral glucose tolerance test (OGTT), i.e. confining it to subjects with impaired fasting glycemia (IFG) according to WHO criteria, allows up to 92.5% of DM2 cases to be diagnosed. However, this approach grossly underestimates the incidence of impaired glucose tolerance (IGT). The application of the 2003 ADA diagnostic criteria leads to a significant increase in the fraction of IFG subjects (up to 40%) while 18.2% of the patients with DM2 remain unidentified. Because the probability of diagnosis of DM2 (from 2-h point time of OGTT) and IGT increases in subjects with OGTT over 5.0 mmol/l, it appears desirable to use OGTT in the screening of cases with FBGL in excess of 5.0 mmol/l. This model may simplify the screening procedure (by avoiding OGTT) in 23.3% of those to be examined.
Problems of Endocrinology. 2011;57(1):80-85
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Modern methods of hormonal analysis
Goncharov N.P.
Abstract
Characteristics of the main methods for hormone detection and measurement including radioimmune and immunoenzyme assays are presented along with the detailed description of up-to-date highly sensitive immunoassays of the third generation. These methods are described as allowing determination of virtually the entire range of hormones and biologically active compounds. Their application opens up new opportunities for diagnostics of subclinical forms of endocrine pathology.
Problems of Endocrinology. 2011;57(1):86-91
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