Vol 74, No 1 (2019)

INTERNAL DISEASES: CURRENT ISSUES
Elastography in the Diagnosis of Non-Alcoholic Fatty Liver Disease
Shirokova E.N., Pavlov C.S., Karaseva A.D., Alieva A.M., Sedova A.V., Ivashkin V.T.
Abstract
Currently, there has been a progressive increase in prevalence of one of the most common diffuse chronic liver diseases ― non-alcoholic fatty liver disease (NAFLD). Assessment of the stages of liver fibrosis and steatosis is prognostically significant in diagnosis of NAFLD. Routine diagnostic methods are either not able to accurately assess the severity of fibrosis and steatosis (ultrasound, laboratory tests), or cannot be used as a simple screening tool (liver biopsy) due to such limitations as invasiveness, dependence on pathologist qualification, high cost, and limited region of interest. Over the last two decades, the great progress has been made in non-invasive visualization of pathological changes in liver diseases. In this review, we examined the diagnostic characteristics of the most widely used non-invasive imaging methods in clinical practice, available for quantitative determination of fat and fibrosis in the liver: transient elastography with controlled attenuation parameter (CAP), acoustic radiation force impulse (ARFI) and shear wave elastography (SWE). Comparing these methods and their limitations, we came to conclusion, that elastographic methods (slightly more ARFI and SWE) are able to verify the F3, F4 stages of fibrosis in NAFLD with high sensitivity and specificity (>90%); however, they are less accurate for early stages. Elastographic techniques have moderate accuracy in identifying the degree of steatosis due to the lack of uniform standardized cut-off values of CAP.
Annals of the Russian academy of medical sciences. 2019;74(1):5-13
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MOLECULAR MEDICINE AND GENETICS: CURRENT ISSUES
Association of Polymorphic Variants of Brain-Derived Neurotrophic Factor Gene (Bdnf Rs6265) and Glutamate Transporter Gene of the Second Type (Slc1a2 Rs4354668) with the Course of Multiple Sclerosis in Patients Living in Tomsk Region
AnastasiIa S.A., Osmanova D.Z., Alifirova V.M., Titova M.A., Koroleva E.S., Ivanova S.A.
Abstract

Background: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system that affects people of working age and ultimately leads to disability. This disease is of polygenic origin. The role of factors related to the pathogenesis of the disease and affecting both neuroinflammation and remyelination is studied. Aims: Our goal was to investigate the association of single nucleotide polymorphisms BDNF rs6265 and SLC1A2 rs4354668 with the risk of occurrence, clinical manifestations and the course of MS.

Materials and methods: The study included 302 patients with MS, 268 healthy volunteers were enrolled in a control group. The obtained blood was used for DNA extraction by standard phenol-chloroform method. The identification of allelic variants of genes SLC1A2 (rs4354668) and BDNF (rs6265) was performed by polymerase chain reaction.

Results: When comparing the frequencies of genotypes and alleles of polymorphic variants of BDNF and SLC1A2 genes between the groups of MS patients and the control group, no statistically significant differences were revealed. Comparison of genotype and allele frequencies of patients depending on sex, age of onset of the disease also did not reveal statistically significant differences. The study of the association of polymorphic variant of the gene BDNF (rs6265) with clinical manifestations of the disease revealed the association of genotype CC with oculomotor and trigeminal disorders at the onset of the disease (F=7, p=0.017). The study of the polymorphic variant rs4354668 of the glutamate transporter gene SLC1A2 revealed the association of allele G with an earlier (within 5 years from the moment of debut) transition of the disease to the stage of secondary progression, despite the therapy with DMT (χ2=5.940; p=0.010; OR 1.58; 95% CI 1.09−2.29). Homozygous genotype of TT (χ2=6.393; p=0.041; OR 0.50; 95% CI 0.28−0.88) and allele T (χ2=5.940; p=0.010; OR 0.63; 95% CI 0.44−0.92) of the polymorphism rs4354668 of the glutamate transporter gene SLC1A2 are significantly more common in the group of patients with late transition (15 years or more from the moment of debut) to the secondary progressive course.

Conclusions: In our study we revealed the relationship of the studied polymorphic variants of genes with clinical signs at the onset of the disease and with the clinical manifestations of MS in patients living in the Tomsk region.

Annals of the Russian academy of medical sciences. 2019;74(1):14-19
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PSYCHOLOGY AND PSYCHIATRY: CURRENT ISSUES
The Role of Brain-Derived Neurotrophic Factor in Mediating the Action of Antidepressants in the Treatment of Depression
Vazagaeva T.I., Akhapkin R.V., Alexandrovsky Y.A.
Abstract
According to the neurotrophic hypothesis of depression proposed two decades ago, the most important role in the pathogenesis of depressive disorders is played by abnormalities in the maintenance of neuronal plasticity regulated by brain neurotrophic factor (BDNF). Although the decline in BDNF activity in depression is now widely documented, it remains unclear whether it is a factor contributing to the onset of depression, or a consequence of the chronic course of the disease. In preclinical studies, it was found that exogenous BDNF infusions causes antidepressant-like effects, prevents the depressogenic effects of chronic stress and increases cell survival in the hippocampus and the prefrontal cortex, but the mechanisms mediating these effects have not been fully studied. The results of molecular genetic studies confirmed that BDNF is essential in mediating the therapeutic effect of antidepressants, while the role of genetic polymorphisms in predicting antidepressant efficacy in depression remains uncertain. The mechanisms of action of monoaminergic antidepressants are related to their effect on the expression of BDNF and its TrkB receptor, however, apparently, the effect size varies for different drugs. Peripheral BDNF levels increase during treatment with antidepressants, and this increase is clearly observed only during the acute phase treatment of depression, but not during the period of maintenance therapy. The serum level of BDNF is a potentially useful marker for diagnosing depression and prediction of a therapeutic response.
Annals of the Russian academy of medical sciences. 2019;74(1):20-28
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OPHTHALMOLOGY: CURRENT ISSUES
Features of Tissue Reaction in the Tenon Capsule in Progressive Myopia
Kurenkov E.L., Rykun V.S., Gordeeva S.A.
Abstract

Background: Research actuality is determined by the first, the prevalence of refraction errors including progressive myopia among children secondly, high risk and tends to develop complications from the visual organ in refractive disorders.

Aims: To investigate tissue reactions occurring in the Tenon’s capsule with anomalies of refraction, including with progressive myopia.

Materials and methods: A one-step study of the Tenon’s capsule of 47 samples (25 with hyperopia and 22 with progressive myopia) was carried out. The material of the Tenon’s capsule was obtained during surgical treatment of strabismus and sclera strengthening operations with progressive myopia. The Tenon’s capsule was studied at different levels: tissue, cellular, subcellular. Fragments of Tenon’s capsule were stained with hematoxylin-eosin and picrofuchsin mixture by the method of van Gieson at the tissue level. This allowed obtaining a general picture of the morphology of Tenon’s capsule. Fragments of Tenon’s capsule were stained by toluidine blue in tetraborate sodium at the cellular level. This gave the opportunity to define the scope for ultratome and spend morphometry of cellular composition. A fragment of Tenon’s capsule was studied by transmission electron microscopy (TEM) at the subcellular level and was performed ultrastructural morphometry of fibroblasts, evaluation of the density of the collagen fibers.

Results: Were evaluated by qualitative and quantitative characteristics of the structure of Tenon’s capsule with two anomalies of refractions: progressive myopia and hyperopia: with progressive myopia in Tenon’s capsule, in contrast to hyperopia, the following number of fibroblasts (1.56±0.12 per 104 µm2), mast cells (0.08±0.02 per 104 µm2), adipocytes (0.01±0.001 per 104 µm2) were observed; ultrastructural features of fibroblasts were represented by such quantitative characteristics: the area of the fibroblast nucleus was 1.60±0.82 in µm2, the length of the karyolemma was 6.99±0.189 µm, the number of nucleoli was 0.17±0.015 per 1 µm2, the number of mitochondria and lysosome -2.05±0.14 per 1 µm2; 0.64±0.08 per 1 µm2, respectively); the density of collagen fiber was 28.72±4.18%, fibrillar fibrillation and fragmentation were recorded.

Conclusions: Hyperplasia of fibroblasts and their ultrastructures, mast cells, reduction in the level of adipocytes and the density of collagen fibrils ― these changes are features of the tissue reaction in the tenon capsule and reflect the adaptive nature of the processes occurring during progressive myopia. 

Annals of the Russian academy of medical sciences. 2019;74(1):29-34
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ENDOCRINOLOGY: CURRENT ISSUES
The History of the Discovery of Parathyroid Glands, and Their Role in the Body
Mokrysheva N.G., Krupinova J.A.
Abstract

Currently, the parathyroid glands (PG) are admited as vital organs in humans. At the same time, the way to this acknowledgment was long and difficult, and the establishment of a link between the pathological conditions of the PG and their complications passed through many mistakes and errors. Understanding the regulation of calcium-phosphorus metabolism in the body and recognition of the main role of parathyroid hormone (PTH) in it was slow, throughout the XIX − early XX centuries. Despite the increasing number of observations confirming the development of complications because of hyperfunction of the PG or development of tetany due to their removal, the main link of this relationship remained unidentified for a long time. In view of the unique anatomical features of the PG, they were the last of the endocrine glands found, which the main obstacle was in the rapid study of their functional characteristics. Today, the structure and functions of the PG are described in detail, the manifestations of their various pathological conditions are well studied, and the capabilities of modern medicine allow timely diagnosis and treatment of diseases. The review describes the history of the discovery of the PG, highlights the main stages in the study of their role in calcium-phosphorus metabolism in particular and in the body as a whole, and discusses the prospects for further development in this direction. We analyzed the work devoted to the evolution in the notions of anatomical, physiological, pathological features of the PG.

Annals of the Russian academy of medical sciences. 2019;74(1):35-43
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Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification
Stepanova A.V., Kulebyakin K.Y., Kochegura T.N., Shestakova M.V., Tkachuk V.A.
Abstract

In the development of type 2 diabetes (T2D), an important role is played by a combination of environmental factors (hypodynamia, hypernutrition, etc.) and genetic variants that predispose the development of the disease. The contribution of inherited traits to the development of T2D can reach 80%, which is confirmed by the results of a number of published studies. At the same time, the multifactorial and polygenetic nature of T2D makes it difficult to establish direct cause-effect relations between individual genetic variants and specific metabolic changes. This explains a large number of studies and a long ongoing search for the most convenient and effective strategy for assessing the role of single nucleotide polymorphisms (SNP), the main type of genetic variation in the human genome. Involvement of specialists from various fields and the emergence of many methods for processing and interpreting data have led to the parallel development of scientific approaches. In this review of the main approaches (except mathematical ones) their characteristics will be described and the results obtained with their help will be evaluated, with special focus on new features of modern methods of genome editing, in particular the CRISPR/Cas9 system, and the future prospects in this area.

Annals of the Russian academy of medical sciences. 2019;74(1):44-53
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EPIDEMIOLOGY: CURRENT ISSUES
Risk ― A Basic Concept of Epidemiology
Savilov E.D., Shugaeva S.N., Briko N.I., Kolesnikov S.I.
Abstract

This article presents the analysis of current scientific understanding of the term «risk» along with theoretical justification of its use in epidemiological studies. Epidemiology commonly uses definitions such as «risk factor», «group of risk», «risk area», and «risk period». However, these definitions were useful only for specific groups or nosoligical infectious diseases. In Noninfectious Pathology the terms had been used exclusively in the applied studies. There is a lack of publications which compile theoretical basics of such fundamental term category. The authors suggest a definition of epidemiologic «risk» which can be used in the epidemiology of both infectious and noninfectious diseases. It is a probability of negative influence on illness (and/or its impact) of specific groups of general population which is defined by external and/or internal factors in specific times and territories. The authors differentiate types of risk and their evaluation measures into categories for used in applied studies of epidemiology. The relationships and the unity of the basic categories of the epidemiologic risk are discussed. The authors conclude that riskology is the main branch of epidemiology and the category of «risk» is the basic paradigm of this science.

Annals of the Russian academy of medical sciences. 2019;74(1):54-60
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STATE OF MEDICAL SCIENCES
Personalized Medicine
Dedov I.I.
Abstract

Evidence-based medicine at the end of the 20th century saved many lives, allowing us to reliably screen out pseudoscientific and dangerous methods. The medical community has gained access to weighted “standards” for treating common diseases. Unfortunately, this algorithmic approach pays for the breadth of coverage with low specificity of recommendations. In this article, the necessity and timeliness of the next step - the transition from broad clinical generalizations to working with the individual characteristics of the patient - are substantiated. The discussion opens with a forced criticism of the current state of clinical medicine, which suffers from economic inefficiency and low accuracy of pharmacotherapy. According to the FDA reference agency, up to 75% of patients do not respond to medications, which is very alarming and requires a change in the dominant paradigm in medicine. Next, we turn to the scientific and technological prerequisites of personalized healing, focusing on the achievements of molecular genetics and the value of genetic counseling. We also deal with issues of genome-wide sequencing and rapidly developing post-genomic methods. Taking into account international experience, we consider organizational and methodological difficulties, as well as ways to overcome them on the way to personalization of medicine. Key points of the article are illustrated by case reports from the clinical practice of the Endocrinology research centre (Moscow).

Annals of the Russian academy of medical sciences. 2019;74(1):61-70
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ЮБИЛЕИ
Valery I. Sergienko
 
Abstract

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Annals of the Russian academy of medical sciences. 2019;74(1):71-72
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Leila V. Adamyan
 
Abstract

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Annals of the Russian academy of medical sciences. 2019;74(1):73
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