Nosological Groups Research Articles

Specific cutaneous infiltrates in patients with haematological neoplasms: a retrospective study with 49 patients.

Haematological neoplasms account for around 9% of all cancers, and they are recognised as an important cause of skin infiltration. However, studies analysing cutaneous metastasis of haematological neoplasms are scarce. We describe the clinical spectrum and outcomes of specific cutaneous manifestations of leukaemias, lymphomas, multiple myeloma (MM), and blastic plasmacytoid dendritic cell neoplasm (BPDN) and make a review of the literature. Data from 49 patients diagnosed with secondary cutaneous infiltration of systemic haematological neoplasms over the last 10years in a tertiary dermatology centre were retrospectively collected, and clinical-evolutive features were analysed. Most cases were lymphoma (44.9%, n=22), followed by leukaemia cutis (38.8%, n=19), secondary plasmacytoma (10.2%, n=5) and BPDN (6.1%, n=3). Nodules were the predominant type of lesion, and most patients presented with multiple (≥3) lesions. In 51% (n=25) of cases, cutaneous infiltration was detected before the diagnosis of the underlying malignancy. The patients in diverse nosological groups did not differ in terms of survival (P=0.052). We recognise the clinical heterogeneity of specific cutaneous infiltrates. The high proportion of cases in which skin involvement was key to the diagnosis of systemic malignancy emphasises the role of the dermatologist in recognising and correctly managing these patients.

Assessment of the efficiency of correctional and developmental programs

The study is devoted to the problem of developing criteria for the effectiveness of education, teaching, and support programs for children with disabilities from the perspective of their socialization. The study discusses specific features of individual educational routes, possibilities of effective technologies, and methods of their use in working with children belonging to different nosological groups. The authors discuss to what extent terms and concepts from related fields of knowledge can be applied in the psychological and pedagogical paradigm and to what extent terms and concepts used in business, finance, and various spheres of the economy can be applied in the psychological and pedagogical paradigm. How the application areas affect analysis results and what they bring to the assessment of the quality of correctional and developmental programs is considered. The study discusses specific features of individual educational routes, possibilities of effective technologies, and prospects for their use in working with children belonging to different nosological groups. The results and novelty are described through the substantiation of the conditions and methods for improving subject and metasubject competencies in children with disabilities, disclosing their potential and opportunities for their career growth, development of interpersonal relationships in adolescents and adults, and other aspects of implementation in society.

Роль некоторых генетических полиморфизмов в развитии внезапной сердечной смерти в Забайкальском крае

Aim of the study. To study genetic polymorphisms rs10798 KCNQ1, rs3010396 CASQ2, rs20455 KIF6, rs2298566 SNX19, rs12143842 NOS1AP of subjects who died due to sudden cardiac death in Trans-Baikal Territory. Material and Methods. Over the period of 2017-2020, a total of 2211 autopsy protocols of subjects who died due to SCD were analysed. Th ese patient constituted the 1st study group (n=113). The control group consisted of healthy volunteers (n=70). The groups were comparable in age and gender. Molecular and genetic typing of the studied genes was performed. Results. The CC genotype of the single-nucleotide polymorphism rs3010396 CASQ2 showed statistical signifi cance in comparison with the control group(the chi-squared=26.95, df=2, p=0.001). The TT genotype was predominant in the control group amounting to 60% against 19.5% in the study group. Single-nucleotide polymorphism rs2298566 of gene SNX19 was also observed to be of statistical significance in the group of subjects who died from myocardial infarction. In the group of patients with SCD, rs20455 KIF6 and rs12143842 NOS1AP were of signifi cance along with rs3010396 CASQ2. Conclusion. Single-nucleotide polymorphism rs3010396 of the CASQ2 gene can be a predictor of sudden cardiac death, since in the 1st study group with this genotype showed its statistical signifi cance in all nosological groups. However, in the group, in which sudden cardiac death (cases coded I46.1 according to ICD-10) was indicated as the fi nal diagnosis, in addition to their statistical signifi cance single-nucleotide polymorphisms of the gene KIF6 rs20455, rs12143842 NOS1AP gene were noted; in the group where the cause of death was myocardial infarction, rs2298566 SNX19 gene polymorphism had statistical signifi cance. The results obtained make it possible to consider these polymorphisms as possible predictors of sudden cardiac death in the population of the Trans-Baikal Territory.

ON CONDITIONS FOR SUCCESSFUL PREPARATION OF PERSONS WITH DISABILITIES FOR THE STATE FINAL CERTIFICATION IN INSTITUTIONS OF SECONDARY VOCATIONAL EDUCATION

The article is devoted to the issues of organization and realization of the state final certification of students of various nosological groups in vocational education institutions that provide training programs for mid-level specialists and skilled workers and office employees. In order to regulate the final tests for this category of graduates, the authors have developed an organizational and methodological model of the state final certification of persons with disabilities, described in detail in this article. Special attention is paid to the functioning of the basic vocational education institutions and resource training and methodological centers in the constituent entities of the Russian Federation that support regional systems of inclusive secondary vocational education. A detailed description of the tasks and activities of the basic vocational education institutions and resource training centers as a modern organizational landscape of regional education systems is given. The author examines in detail the special conditions of accessibility of a vocational education institution: personnel, equipment and educational-methodological conditions, which form the foundation of the organization and conduct of the state final certification procedure for students with disabilities. The study defines the forms of the state final certification of persons with special educational needs and disabilities: training examination and defense of the final qualification work.

Особенности формирования архитектурной среды инклюзивного отдыха детского лагеря для детей с ограниченными возможностями здоровья

The aim of this paper was to identify the main directions in the development of architectural environment for children with disabilities and to determine the possibility of implementing a barrier-free environment in the educational and recreation space. Statistical data on the number of children with disabilities can serve as a basis for justifying the introduction of inclusive camp shiftsand special architectural and landscape solutions for the joint recreation of healthy children and those with disabilities. The criteria for creating comfortable conditions for children with disabilities were identified on the basis of an analysis of psychological features and developmental delays of various nosological groups. Within this approach, psychological triggers play an important role, the compatibility of which will be studied in future research. Synergy is the main principle and method for implementing specific architectural concepts, from the standpoint of which any architectural space can be considered as an ever-changing system, similar to the behaviour of a living organism. The features and criteria of the environment for children with disabilities have made it possible to compile a list with a brief description of the arrangement of architectural spaces. Taking into account social factors, options for a comfortable accommodation of children in the rooms for sleeping and recreation in an the inclusive camp were proposed. The demand in the Irkutsk region for recreation facilities for children with disabilities was studied. On this basis, the possibility of combining zones for children with different types of disabilities in the same space was established. In addition, the prospects for joint recreation of healthy children and children with disabilities were revealed. When designing inclusive camps, the methods and principles of space organization described in the article can be used.

Влияние пищевого фактора на сывороточный уровень витамина D у детей с бронхиальной астмой, ювенильным ревматоидным артритом и муковисцидозом

Objective. To determine the role of alimentary factors in the development of vitamin D deficiency in children with bronchial asthma, juvenile rheumatoid arthritis, and cystic fibrosis. Patients and methods. A total of 336 children aged 1 to 18 years were examined; of them, 83 patients (53 (64%) boys and 30 (36%) girls aged 12.5 ± 3.8 years) had bronchial asthma (BA), 40 children (19 (47%) boys and 21 (53%) girls aged 13.5 ± 1.8 years) – juvenile rheumatic arthritis (JRA), 213 children (90 (42%) boys and 123 girls (58%) aged 10.5 ± 1.8 years) – cystic fibrosis (CF). Dietary intake of vitamin D was analyzed based on the assessment of actual nutritional status, using a questionnaire method, which consisted in filling out the forms on food consumption over 3 days. Serum vitamin D levels were evaluated using a standard enzyme-linked immunosorbent assay. Results. Vitamin D deficiency was observed in 71% of children with JRA (of which 25% had severe deficiency), in 68% of children with BA (14% with severe deficiency). In children with CF, vitamin D deficiency was registered less frequently: it was observed in 18% of cases (4% had severe deficiency). Evaluation of the actual nutritional status of children with CF, JRA, and BA showed that the intake of vitamin D did not meet the physiological requirements (10 μg per day). There was no correlation between the dietary intake of vitamin D and its concentration in the blood. Conclusion. Using the example of three nosological models (allergic, autoimmune, hereditary-genetic disease), it was shown that children with the autoimmune form of the disease (JRA) were at greater risk of developing serum vitamin D deficiency. Children of all nosological groups had very low levels of vitamin D in consumed food (no more than 15% of the physiological norm). The percentage of children with the optimal concentration of vitamin D in the blood was higher in the group of children with CF, which is explained by medication supplementation. Thus, children with chronic diseases (BA, JRA, CF) need dynamic monitoring of serum vitamin D concentration and pharmacotherapy with vitamin D preparations for preventive and therapeutic purposes. Key words: cystic fibrosis, children, micronutrient status, vitamin D, energy value, macronutrients

Клінічні та параклінічні особливості перебігу алергодерматозів у дітей

In recent years, in most countries of the world there is a significant increase in allergic skin diseases — allergodermatoses, especially in children. Allergodermatoses include: simple and allergic contact dermatitis, atopic dermatitis, various forms of eczema, acute and chronic allergic urticaria, Quincke's edema, multiforme exudative erythema (Stevens—Johnson syndrome), acute epidermal necrolysis (Lyell's syndrome), toxicodermias, and other less common dermatoses with allergic reactions in the pathogenesis. Various disorders of the morphofunctional state of the skin and immune mechanisms of pathogenesis in children with allergic dermatoses have been insufficiently studied. That is why a promising area of research is to study clinical and paraclinical features of allergic dermatoses in children for identify possible diagnostic criteria. Purpose — to improve the diagnostic of allergic dermatoses in children, to analyze clinical and paraclinical features of the course of allergic dermatoses, to study the indicators of cellular and humoral immunity, cytokine status, biomarkers of sensitization to allergens. Matherials and methods. 50 children with allergic dermatoses and 32 healthy children of the control group aged 1 to 18 years were examined. General clinical, immunological, allergic and statistical research methods were used. Results. The comprehensive study of the clinical manifestations of various allergic dermatoses in children was done. Allergic dermatoses are characterized by pronounced polymorphism of clinical manifestations, acute or chronic stage course, with the development of concomitant pathological polysystemic changes. In children with allergic dermatoses was detected disorders of the cellular immuneity with the development of an imbalance between individual subpopulations of lymphocytes: a decrease of CD3 with an increase of CD4 and a decrease of CD8, a corresponding increase of the immunoregulatory index, as well as an increase of CD20, CD19 and CD16 in the blood. Analysis of humoral immunity in children with allergic dermatoses showed dyssimmunoglobulinemia with decrease concentration of IgA, a significant increase concentration of IgE and a moderate increase concentration of IgM, IgG in the blood. Also in children with allergic dermatoses an increase concentration of circulating immune complexes and histamine in the blood was found. Conclusions. As the result of the conducted research similar immunological mechanisms in the pathogenesis of allergic skin diseases in children were established, together with etiologically significant factors and the only one mechanism for the formation of sensitization to allergens. The obtained data gave grounds to combine all allergic skin lesions in children into the one nosological group of allergic dermatoses. Dedicated clinical and paraclinical criteria of the diseases will promote to verify timely accurate diagnosis. The study was conducted in accordance with the principles of the Helsinki Declaration. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Informed consent of parents of children was obtained for the research. The authors were declare no conflict of interest. Key words: children, allergy, allergic dermatoses, cellular and humoral immunity, cytokine status.

Эволюция подходов в лечении мочекаменной болезни. Мультицентровой анализ работы 5 урологических отделений многопрофильных стационаров г. Москвы

Introduction. The history of treatment of urolithiasis has more than three hundred years and all this time represents a dynamic evolution of approaches and methods. Even today, the treatment of urolithiasis is not «static» and is evolving in step with medical technologies. Materials and methods. Retrospectively analyzed 43818 cases of hospitalization of patients with urolithiasis in urological departments of the following city hospitals: City Clinical Hospital No. 1 named after N.I. Pirogov, City Clinical Hospital Named after V.V. Vinogradov, State Clinical Hospital named after V.M. Buyanov, City Clinical Hospital Named after N.E. Bauman, State Clinical Hospital named after S.S. Yudin between January 2012 and December 2019. Results. During the study period, 17,586 (40.2%) patients were hospitalized for planned surgical treatment, and 26,232 (59.8%) were hospitalized in an emergency. There is an increase in the number of patients with urolithiasis. 33272 (76%) patients were treated with ureteral stone and 10546 (24%) with kidney stone. In the planned treatment of patients, the stone was in the kidney in 57.6% of cases and in the ureter in 42.4%. For emergency hospitalization, patients with ureteral stone accounted for 80.5% and only 19.5% of the stone was localized in the kidney. 19568 surgical interventions were performed: ureterolithotripsy (9688 operations), percutaneous nephrolithotomy (3670 operations) and remote shock wave lithotripsy (6210 patients). It should be noted that the ratio of surgical techniques has changed over time in favor of endoscopic methods. There was a decrease in the lenght of stay from 9.1 to 4.9 days. The effectiveness of endoscopic treatment of urolithiasis was 83%. Discussion. During this period, we noted a progressive increase in the number of patients with urolithiasis who applied for inpatient care, the increase was 58%. In 2019, a 28.7% decrease in the number of patients hospitalized with urolithiasis was recorded, which is due to the introduction of more stringent indications for hospitalization of patients. There was an increase in minimally invasive endoscopic methods in the treatment of patients with urolithiasis and a decrease in the number of ESWL, which reflects international trends. The results of the work are comparable with the data of the majority of Russian and foreign authors, which demonstrates a worldwide trend towards an increase in the incidence of urolithiasis and a growing adherence to endoscopic methods of treatment. The overall effectiveness of endoscopic treatment of ICD was 83%. Conclusion. The evolution in approaches to the treatment of urolithiasis today is a reflection of technological progress in the development of endourological tools and is on the way to minimize access and surgical trauma. Routing patients and including surgical methods in the list of high-tech care is also important in treatment approaches. The increase in surgical activity in relation to urolithiasis, combined with a decrease in bed days and postoperative morbidity, makes it justified to take a more aggressive approach to the treatment of patients of this nosological group.

A case report of pilocytic astrocytoma of the brainstem

Low-grade gliomas (LGGs) of the brainstem are a rare nosological group among brain tumours in children. In most cases, radical resection of the tumours localized in the brainstem is impossible due to the high risk of postoperative neurological complications. Presently, there are no uniform approaches to the management of patients with residual tumours of the brainstem; furthermore, current LGG treatment protocols disregard molecular and genetic features of the tumour. In our article we describe the case of the patient with LGG of the brainstem after the performed biopsy. Despite the large volume of the tumour, we decided to follow the patient over time due to the following factors: verification of the “pilocytic astrocytoma” histological diagnosis, detection of the KIAA1549-BRAF chimeric transcript (a marker of a favourable prognosis), as well as the absence of neurological deficit. According to the neuroimaging data, the child has stable disease for a long period of time. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

ОСОБЛИВОСТІ ПІДГОТОВКИ МАЙБУТНІХ ФАХІВЦІВ ФІЗИЧНОЇ ПІДГОТОВКИ І СПОРТУ ДО РОБОТИ З ВІЙСЬКОВОСЛУЖБОВЦЯМИ З ОБМЕЖЕНИМИ ФІЗИЧНИМИ МОЖЛИВОСТЯМИ

The article considers the problem of training future specialists in physical training and sports to work with servicemen with disabilities. It has been found that physical activity plays a crucial role in the rehabilitation of servicemen with special needs. However, the analysis of scientific and methodological literature and military practice showed that not enough attention was paid to the issue of their preparation.The analysis of the bachelor's program in the discipline “Physical Rehabilitation and Adaptive Physical Education”, which was developed in accordance with the standard of higher education in “Physical Culture and Sports” and takes into account psychological and pedagogical differences in the activities of professionals in adaptive physical culture. This program consists of three blocks: theoretical, methodological and practical and allows to properly prepare future specialists in physical training and sports to work with servicemen with disabilities.Practical training of future specialists in physical training and sports is carried out during the solution of problematic practical tasks for assessment and analysis of health and physical development of persons of different nosological groups, development of motor activity programs based on the basic laws of physical development. qualities of adaptive physical education, the dependence of the development of physical abilities on motor modes and the stage of development of physical qualities. Also determine the amount of motor skills and testing during various nosologies, develop guidelines for adaptive physical education for people in this category.

ДЕФИЦИТЫ ПОДГОТОВКИ БАКАЛАВРОВ-ДЕФЕКТОЛОГОВ К СОПРОВОЖДЕНИЮ ОБУЧАЮЩИХСЯ С ОГРАНИЧЕННЫМИ ВОЗМОЖНОСТЯМИ ЗДОРОВЬЯ

Statement of the problem. At the present stage of educational development, new requirements are laid for the professional activity of a defectologist teacher. One of the priority requirements is the readiness and ability of specialists of this profile to carry out defectological support for students with disabilities/ disorders, in the conditions of organizations implementing exclusively adapted basic general education programs, as well as in general education schools. The qualification request of employers for the content of master’s training in the field of correctional activities should be confirmed by a request for relevant professional competencies from already employed specialists and bachelor alumni in the field of 44.03.03 Special (defectological) education. The purpose of the article is identification of deficiencies of vocational training among bachelor speech pathologists for determination of the structure of professional competences for master students in the field of 44.04.03 Special (defectological) education, necessary for work in the sphere of special and inclusive education. Methodology (materials and methods). Analysis of Russian and foreign studies on the training of specialists in the field of special (defectological) education, regulatory documents in the field of education, a survey of senior students in the field of 44.03.03 Special (defectological) education, a survey of employed speech teachers and defectologists; analysis and synthesis of the authors’ experience in training defectologists of the corresponding profile. Research results. The article presents the results of a survey of speech teachers and defectologists, senior students in the field of 44.03.03 Special (defectological) education in order to identify deficits in the professional training of bachelor defectologists. Taking into account the identified deficits and the qualification request of employers for the preparation of master’s degree students, who are able to carry out corrective work with students of different nosological groups, as well as with severe multiple developmental disorders, a master’s program entitled Technologies for corrective work of a defectologist teacher with children with hearing, vision, and intelligence disorders has been developed and implemented. Conclusions. As a result of the study, deficits in the training of future defectologists were identified, consisting in a lack of competence related to the ability to carry out interdisciplinary and inter-institutional interaction to accompany students with disabilities and their parents. On the basis of the results of the survey, the composition of professional competencies was approved for the master’s program in the field of 44.04.03 Special (defectological) education.

ИЗУЧЕНИЕ ФАКТОРОВ ВРЕМЕННОЙ АДАПТИВНОСТИ У ЛИЦ С РАЗНЫМ УРОВНЕМ ЗДОРОВЬЯ

The article presents the results of a study of factors, features and the level of development of temporary adaptability, as an ability and resource for adaptation, in people with different levels of health. The study was conducted by the method of interviewing in full-time and electronic forms on a sample of people from a conditionally healthy group and having health problems of different nosological groups. In the course of the analysis of the research results, such factors of a person’s temporal adaptability as perception and orientation in time, adaptation to natural temporal changes, adaptation to changes in plans, daily ritual routines and schedules were highlighted. The novelty of the research results is the allocation of temporary adaptability, as a form of adaptability to the physical conditions of the environment, as a separate subject of study and the study of its factors, features and level of development in people with different levels of health. The results can be applied in the development of training courses, including in remote form, for the development of skills of perception and orientation in time, planning and time management. Also, the results of the study are important for the development of methods for determining the level of adaptability of a person to the physical structure of the environment.

Изучение взаимосвязей между развитием сенсорного утомления и наличием нарушений в здоровье у респондентов

The article discusses the features of sensory fatigue which persons with impaired health of different nosological groups may experience. During the study, visual, sound and tactile triggers of sensory fatigue in respondents were identified; as well as the frequency and periods of development of this functional state and the duration of cases of sensory fatigue in respondents from different groups. Analysis of the results of the study showed that respondents with impaired health and a conditionally healthy group have different reasons for the development of sensory fatigue and the manifestation of mental responses to the intense effects of external stimuli.

The analysis of detection of rare diseases not included into listings of orphan diseases with preferential medication support

The study was carried out to analyze detection of rare diseases that are not included into listings of rare (orphan) diseases to be treated at the expense of budget resources of the Russian Federation Russian Federation (hereinafter referred as rare diseases out of reimbursement). The analysis of detection of patients with rare diseases out of reimbursement in Russian Federation was carried out. The information was collected and summarized on the basis of open sources by the way of formalized personal request to the heads of patient and public organizations providing care of patients with rare diseases out of reimbursement. It is established that in the Russian Federation (85 subjects) reside patients with more than 250 forms and groups of rare diseases and only 28 out of them are included into the Federal registries of patients. Actually, there are more than 8 000 nosologic forms of rare diseases that are known thus far. The monitoring permitted to collect data concerning 30 particular nosological forms and groups of rare diseases out of reimbursement. Among them, 23 out of 30 analyzed pathologies have genetic nature. And only for 24 out of 30 diseases the registration of patients is applied. It is necessary to organize modern system of registration of patients within the framework of the Federal registry that includes full and actual data about patients, course of disease, therapeutic interventions that will permit to determine prevalence, disability, mortality, lethality, necessary medicinal maintenance and also to establish spectrum of diseases that are to be included into drug reimbursement programs.

MicroRNA miR-21 and miR-146a expression in male with a combination of bronchial asthma and chronic obstructive pulmonary disease

Patients with a combination of bronchial asthma (BA) and chronic obstructive pulmonary disease (COPD) crossed phenotype (CP) BA and COPD are a separate nosological group. CP BA and COPD is a multifactorial disease. There is a hypothesis that genetic control of CP BA and COPD development at the posttranscriptional level is carried out by regulation of gene expression involving microRNA (miR) miR-21 and miR-146a; these molecules can be considered as potential diagnostic markers of CP BA and COPD. The purpose of this study was to evaluate the expression of miR-21, miR-146a in male with a combination of BA and COPD compared to those with isolated BA and COPD. Materials . We examined male patients (n = 65) (n = 48: 19 patients with CP BA and COPD; 14 patients with BA and COPD) and control group (n = 17). All the patients underwent a comprehensive clinical-laboratory and instrumental examination. The expression of miR-21, miR-146a was estimated in peripheral blood by a real-time polymerase chain reaction. Results . CP BA and COPD have lower levels of miR-21 and miR-146a than the BA, COPD, and control groups. CP BA and COPD patients have low levels of miR-21 and miR-146a associated with shorter duration of the disease and the presence of comorbid pathology (hypertension, angina pectoris), revealed in patients with the disease debut at an older age. Low miR-21 was associated with lower reversibility of bronchial obstruction in these patients, despite eosinophilic inflammation in the bronchi. Conclusion . It has been demonstrated that within the framework of complex diagnostics of CP BA and COPD in males it is reasonable to evaluate miR-146a and miR-21 expression in peripheral blood. MicroRNA miR-146a and miR-21 are promising molecular targets for phenotype-specific therapy in males with CP BA and COPD.

Мониторинг готовности профессорско-педагогического состава к работе в инклюзивных группах

The article presents the results of monitoring the readiness of the teaching staff to work with students with disabilities in educational institutions of higher education in the Astrakhan region, Volgograd region, Republic of Adygea, Republic of Crimea and Sevastopol. Information was collected by placing a questionnaire for teachers on the portal of higher inclusive education of the Russian Federation and analyzing the obtained quantitative data from General monitoring forms by region. The monitoring study confirmed the presence of a number of problematic aspects in ensuring the educational process for people with disabilities at the University: the need to develop inclusive competence of the teaching staff; the presence of psychological and methodological difficulties in organizing and conducting the educational process in inclusive academic groups; lack of sufficient knowledge about special technical means of training and skills of adaptation of educational and methodological support taking into account the educational needs of students of various nosological groups.

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene

Relevance. Acromezomelic dysplasia Maroteaux type (AMDM) is a rare variant of autosomal recessive skeletal disorder. The disease is caused by mutations in the NPR2 gene, coding the protein product which is one of the main regulators of endochondral ossification. To date, 49 mutations in this gene have been identified, more than half of which are missense substitutions. The presence of polymorphism of phenotypic manifestations makes it necessary to describe the features of clinical and radiological characteristics of the disease in patients with newly identified mutations in the gene, which will help to optimize its diagnosis. Case presentation. The clinical and radiological characteristics of two siblings with newly identified mutations c.125_126insTGGCG (p.Trp42CysfsTer12) and (p.Arg767Ter) in the NPR2 gene are described. Intra-family polymorphism of clinical manifestations is shown. Discussion. Clinical manifestations and radiological data in two siblings with AMDM caused by new mutations in the NPR2 gene and analysis of the literature data allowed us to conclude that there is no correlation of the severity of clinical signs and the type of mutations in the gene. Patients are born with normal growth and weight, and clinical manifestations (disproportionate dwarfism) appeared during the first year of life. The main radiological signs are shortening of tubular bones, most pronounced in the upper limbs and wedge-shaped formation of the vertebral bodies. Genotype-phenotype correlations confirmed the hypothesis that the majority of mutations leading to the disease is localized within the ligand-binding and guanylate cyclase domains. Conclusion. The obvious genetic heterogeneity, the similarity of the clinical manifestations of individual nosological groups of skeletal dysplasias, as well as the presence of intrafamily and interfamily polymorphism of clinical manifestations allows us to consider sequencing of a clinical exome or whole exome as the optimal method for diagnosing this group of diseases.

Comparative analysis of RDW variability depending on belonging to a defined nosological group of diseases according to ICD-10 classification.

The aim of this study was to investigate RDW variability and conduct a comparative analysis of the RDW level in patients depending on their belonging to a defined nosological group of diseases according to the ICD-10 classification. All patients who complete blood count tests in our hospital from January to December 2016 were included in the study. The identification of the patient's belonging to a specific nosological group according to the ICD-10 classification was carried out on the basis of the disease analysis code indicated in the direction of the blood test. 8056 patient records were included in the final analysis. Deviations beyond the upper reference range for the RDW indicator (> 14.5%) in this study were identified for patients of the following nosological groups according to ICD-10: C - neoplasms; D - blood diseases; S - injuries; T - poisoning. Significant intergroup differences were obtained according to the Kruskal-Wallis rank analysis of variance (Kruskal-Wallis test: H (19, n= 7622) = 214.9672 p = 0.0000). According to the results of this study, we can conclude that RDW has specificity for certain diseases (neoplasms; blood diseases; injuries; poisoning). In case of cardiovascular and other diseases, deviations of this indicator beyond the limits of the upper reference values were not found in this study.

FEATURES OF THE DEVELOPMENT OF VISUAL FATIGUE IN PERSONS WITH HEALTH DISORDERS

Background. The article discusses the qualitative and quantitative features of visual fatigue that persons of different nosological groups may experience. Visual fatigue is one of the factors in deterioration of the psychophysical status of both respondents with psychophysical impairments from the experimental group and relatively healthy individuals from the control group. Aim. The paper aims to study the features of the development of visual fatigue in people with different types of psychophysical disorders and different levels of health. Materials and method. During the study, the following methods were used: observation, self-assessment of the psychophysical status by respondents, and a survey. Results. The results of the study showed that respondents with impaired health and a relatively healthy people had different reasons for the development of visual fatigue and the manifestation of mental responses to intense visual stimuli. Therefore, the emergence and development of visual fatigue can depend both on the mental status of a person and on physical factors that reduce the adaptive capabilities of sensory systems and lead to negative mental responses and health deterioration. Two groups of respondents with a mental and organic basis for visual fatigue were identified. Some respondents showed that they had high levels of visual adaptation and resistance to visual fatigue. They use effective strategies for sensory discharge which can be applied to other groups distinguished by physical and mental symptoms of visual fatigue. Conclusion. The results can be used in the development and application of methods for the psychological and pedagogical support of persons with health problems and are aimed at reducing visual fatigue among participants in inclusive education.

The Development of Social Competence in Preschoolers with Disabilities as the Condition for Their Successful Educational Integration

The article presents the results of a theoretical and experimental study of an age-related psychological formation - social competence in preschool children with disabilities. The characteristic of diagnostic tools aims at studying the cognitive, emotional and behavioral component of social competence is given. The article reveals the conceptual foundations and stages of experimental research. At the first stage of the study, the levels of social competence formation have been identified and described in accordance with the identified assessment criteria. The analysis of the influence of the level of development of social competence components on the process of social adaptation to new conditions in special (correctional) and inclusive educational organizations has been presented. The experimental data presented in the study indicate systemic lack of social competence in preschool children with disabilities of various nosological groups (children with mental retardation, children with mild mental retardation, children with general speech underdevelopment, and children with visual impairments). At the second stage of the study, it has been indicated that the pedagogically organized inclusion of children with disabilities into the system of new social relations (at the stage of adaptation to school) is a key condition for their successful socialization. The necessity of the activation of their developmental capabilities in a changing situation of social development has been substantiated. It is proved that the social competence of children with disabilities will be the subjective prerequisite of school adaptation.