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Yakut Medical Journal

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No 4 (2020)
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ORIGINAL RESEARCH

6-9 8
Abstract

This study was conducted to study the prevalence and structure of juvenile idiopathic arthritis (JIA) in the Republic of Sakha (Yakutia) and to identify some features of this nosology in indigenous children. As a result, the frequency of JIA variants varies in different regions of the RS(Ya), enteritis - associated arthritis being the most commonly noted. Among the features of JIA in indigenous children, there is predominance of male patients, as well as a significantly high hereditary family history. The high frequency of the HLAB27 antigen is associated with JIA in indigenous children twice frequently in Caucasian children.

10-13 8
Abstract

The article presents the study of the characteristics of the membrane potential of mitochondria (MPM) granulocytes in 72 children with congenital lung malformations (CLM). There was a 5-fold increase in the proportion of cells with reduced granulocyte MPM(ΔΨm) compared to the control group. During the periods of exacerbation of the disease, the number of granulocytes with reduced potential increased by 8 times accompanied by the growth of luminol-and lucigenin-dependent chemiluminescence of whole blood phagocytes with spontaneous, significant decrease in the I-lum and I-luc stimulation indices by 30 and 25%. Negative dynamics of the stimulation index indicates the depletion of reserve capacities of the phagocytic system in children of the study group. There are statistically significant direct correlations between the level of granulocytes with reduced MPM(ΔΨm) and indicators of phagocytic activity of leukocytes.

13-16 18
Abstract

The results of our studies indicate that smoking stimulates the expression of tumor markers in smokers’ serum. The level of tumor markers goes up with the increase in smoking history. In the body of smokers, the concentration of tumor markers increases at a young and middle age, rather than in the elderly. The lower indicators of tumor markers in old age is explained by the natural premature dropout of smokers from the population.

16-19 8
Abstract

The aim of this study is to evaluate the leptin level circulating in blood serum depending on the body mass index (BMI) in young healthy Yakuts (mean age 19.8±1.5 years). The total sample (n=281) was divided into three groups according to the WHO classification: persons with underweight, normal, overweight / obese. There were no statistically significant differences in BMI between men and women in the groups. As a result of the comparative analysis, it was found that both in women and in men, leptin levels were statistically higher in overweight/obese individuals compared with the other two groups. There were no statistically significant differences in leptin levels between the groups of people with underweight and normal weight, both in women and in men, which could be associated with the body's protection from low temperatures through the development of active brown adipose tissue, secreting additional leptin.

20-22 7
Abstract

The significance of polymorphic variants of amino oxidase AOC1 and histamine-N-methyltransferase HNMT genes, involved in histamine metabolism, with predicting the risk of developing bronchial asthma (BA) in children living in the Republic of Bashkortostan was evaluated. Associations of the rs1049793 * CC genotype and the rs1049793 * C allele of the AOC1 gene with the development of ВА were revealed with significant reductions in spirography indices in children of Russian ethnicity. There were associations of the rs1801105 * CT genotype and the rs1801105 * T allele of the HNMT gene with a significant decrease in MEF25 in BA patients of Tatar ethnicity. The results of this study indicate the role of polymorphic variants of the AOC1 and HNMT genes in the development of BA.

23-27 6
Abstract

The limits and correlation of apoptosis and necrosis of neutrophil granulocytes in venous peripheral blood in apparently healthy people were studied. It was found that w contehen increasing the content of necrotic neutrophils AnV+/PI+, the concentration of apoptotic cells AnV+/PI-increases statistically to a large extent associated with the reduction of circulating neutrophils, monocytes, and t-helper cells. Thus, activation of neutrophil loss by necrosis can become a pathogenetic mechanism of cell membrane damage (nuclear, lysosomal, or cellular), as well as the formation of T-helper immunodeficiency.

27-31 4
Abstract

The aim of the study was to develop centile tables to assess basic parameters of the dynamic components of the postural balance in women 60-74 years old. Three groups of women aged 60-64 years, 65-69 years, and 70-74 years, with a total number of 186 people, were examined. Evaluation of main indicators of the postural balance was carried out using the computer stabilometric complex "Balance Manager". The presented standards will help to increase the information content of research and objective analysis of the results obtained, as well as to evaluate the effectiveness of the implementation of measures to maintain normal, safe walk or prevention of mobility restriction.

31-33 9
Abstract

The article presents the results of the fisrt molecular genetic study in the EXT1 and EXT2 genes among patients with hereditary multiple exostoses (HME) ant their relatives. A rare nonsense mutation c.751С>T (p.Gln251*) in exon 5 of ЕХТ2 gene in a heterozygous state was detected. That was the cause of HME among patients of the Yakut ethnic group. At present we are conducting the investigation to search mutations in ЕХТ1 and ЕХТ2 genes in other families with HME.

DIAGNOSTIC AND TREATMENT METHODS

34-37 6
Abstract

The article presents the results of the diagnostic search of the hereditary autosomal recessive disease Pendred's syndrome (sensorineural deafness combined with thyroid disorders) in patients with hearing disorders in Buryatia using instrumental (threshold tone audiometry) and laboratory methods (ELISA analysis of FT3, FT4 and TSH). Threshold tonal audiometry and analysis of thyroid hormone levels were performed in 164 patients with hearing impairment. The analysis showed that 7.9% (13 out of 164 people) of patients with severe hearing loss and deafness can be assumed to have thyroid disorders (12 people – hypothyroidism, 1 person – hyperthyroidism). Overall, 7.3% of deaf patients with hypothyroidism (12 of 164) were formally consistent with the clinical features characteristic of Pendred's syndrome.

38-41 5
Abstract

Aberrant right subclavian artery (arteria lusoria) is abnormal development of the aortic arch and its branches, which is often associated with the right non-recurrent laryngeal nerve. The presence of such anatomy increases the risk of intraoperative damage to the laryngeal nerve to 12.9% (in the classic version, the risk is 1-2%). The aim of this article is to show the clinical observation of the preoperative diagnosis of arteria lusoria when planning surgical treatment to patients with benign parathyroid disease. The clinical case presents a 53-year-old male patient with primary hyperparathyroidism. While the additional preoperative examination (MRI) was being conducted to reveal the localization of parathyroid adenoma and to exclude multiple disease of the parathyroid glands, the aberrant right subclavian artery was detected. To clarify vascular architectonics of the branches of the aortic arch, the multispiral computed (MSCT) angiography of brachycephalic arteries was performed. The study showed that the first branch of the aortic arch is the common mouth of the carotid arteries, the second one is the left subclavian artery and the third branch is the right subclavian artery (type H according to the Adachi – William’s classification). The latter goes from the left to the right in the oblique-lateral direction behind the esophagus, deforming its lumen along the posterior wall. The vascular anomaly was an accidental find that played a significant role in planning the operation. As a result of the preoperative assessment of the patient's anatomical features, the intraoperative trauma and the search time for the non-recurrent laryngeal nerve and parathyroid adenoma were minimal. We consider it is necessary to use all possible methods for imaging the parathyroid glands, including MSCT angiography, MRI in order to exclude the possibility of multiple disease when planning surgical intervention for patients with primary hyperparathyroidism. In this clinical case, this approach made it possible to diagnose the aberrant right subclavian artery in the preoperative period and associate with the non-recurrent right laryngeal nerve.

41-44 4
Abstract

Foot deformations in children with no proper correction are often accompanied by pain, functional changes and high risk of developing disability, which determines the high social significance of the nosology. The aim of this study was to evaluate the effectiveness of treatment of children’s foot deformations in outpatient and inpatient settings. In the period from 2015 to 2020 109 children were examined and treated at the clinical base of the Moscow City Children's Clinical Hospital named after N.F. Filatov. The results of the study showed that in all children after the comprehensive assessment and the combination of conservative and operative correction techniques, there was complete elimination of congenital foot deformation. To achieve the complete and effective res equino-varus correction, the Ponseti procedure must be carefully followed. The early detection and correction of foot deformation is effective.

44-49 3
Abstract

In this paper we present for the first time the results of the clinical-audiological and genealogical analysis of cases of hearing impairment in the Republic of Buryatia. As a result of the clinical-audiological analysis of the survey sample, the majority of individuals had bilateral deafness of the sensorineural type, the rest had bilateral hearing loss of varying severity. The segregation analysis carried out in Buryat and Russian families made it possible to assume the hereditary nature of cases of hearing impairment, segregating according to an autosomal recessive type of inheritance only in Russian families.

HEALTHY LIFESTYLE. PREVENTION

49-52 2
Abstract

The study of the effect of smoking on metabolic disorders and determination of the association between them in the indigenous population of the northern territory of Yakutia was carried out. A high frequency of risk factors for the development of cardiovascular pathology, such as overweight, obesity and smoking, was revealed. We have confirmed the data of foreign scientists on the suppression of the level of insulin secretion under the influence of nicotine. The same association of glucose level with blood pressure was obtained in both smokers and non-smokers. Metabolic disorders in the indigenous population of the northern territory of Yakutia are caused by a change in the traditional way of life with a decrease in physical activity, diet, and non-observance of a healthy lifestyle.

ORGANIZATION OF HEALTH, MEDICAL SCIENCE AND EDUCATION

53-57 5
Abstract

The article presents the experience of the specialized medical center on the basis of the clinic of the Federal State Budgetary Scientific Institution of the Yakutsk Scientific Center for Complex Medical Problems for patients with neurodegenerative diseases. The aim of this work is to present an improved model for providing specialized care for patients with neurodegenerative diseases in the Republic of Sakha (Yakutia) and an example of consolidation of the federal medical research institution and the regional ministry of health. The materials in the work include the register of patients with SCA 1 and MND, reporting data of regional neurologists from 2016-2018, regulatory documents of the Ministry of Health of the Russian Federation and the Republic of Sakha (Yakutia). The clinical, comparative analysis and organizational modeling were used for the study. The result of the analysis was the opening of the Center for Neurodegenerative Diseases at the YSC KMP.

HYGIENE, SANITATION, EPIDEMIOLOGY AND MEDICAL ECOLOGY

58-61 3
Abstract

To study the symptoms of dyspepsia among first-year students of the Medical Institute there was a survey among 51 students, with an average age of 18 years, 30 of them are females, and 21 are males. The study included dyspepsia issues, its duration, nature, periodicity, frequency, seasonality, relationship with food intake and concomitant diseases of the digestive system. Symptoms of dyspepsia were determined in 33.6% of the respondents. The most common symptom of dyspepsia was a feeling of heaviness in the epigastric region, nausea, pain in the epigastric region, sometimes heartburn, nausea and belching. According to our data, functional dyspepsia is more common than organic dyspepsia, which amounted to 9.8%, possibly due to previously diagnosed diseases of the gastrointestinal tract. In the last two years, the overwhelming majority of respondents have developed symptoms of dyspepsia, which coincides with the high level of stress and psycho-emotional stress during the school period and with the adaptation of the freshman. For the prevention of symptoms of dyspepsia, the recommendations for first-year students are: regularly undergo preventive medical examinations, observe the regime and principles of rational nutrition. We have developed practical recommendations for the prevention of symptoms of dyspepsia among first-year students.

61-65 3
Abstract

This article presents the comparative characteristics of the dynamics of indicators of physical development of young men. The study aims to carry out a comparative analysis of the dynamics of morphological and functional indicators of physical development and the functional state of male bodies at the youthful stage of ontogenesis. We have analyzed the results of the one-time study (1999 and 2019) of 1st-year students; in total, 760 young male students were examined in 1999, and 273 students in 2019 (aged 17-18). To reveal research results of physical development indicators, we have carried out a comprehensive study of somatoscopic, somatometric, and functional indicators of young men. Analysis of the morphological and functional indicators of men in Yakutia at the youthful stage of ontogenesis over time (20 years of difference). We take into account the individual typological characteristics of the organism, manifested at the structural and functional level (somatotype), and reflected in the main anatomical and anthropological indicators of the organism. This makes it possible to state the impact of external factors (environmental, social influences; a complex of genetic and cultural characteristics) on the indigenous people of the North.

65-69 5
Abstract

We have studied the impact of harmful physical factors of production on the development of occupational sensorineural hearing loss (OSHL) among civil aviation flight personnel and technological transport drivers in the mining industry of Yakutia. It was found that among flight personnel, OSHL is the only diagnosis of an occupational disease, the severity of hearing loss depends on age, length of service, and the level of excessive noise (typical pattern of OSHL). In car drivers, OSHL is combined with other diagnoses caused by exposure to local and/or general vibration, the clinical course is more severe, with a predominance of II and III degrees.

TOPICAL ISSUE

69-73 1
Abstract

A vacA gene is important virulence factor that encodes vacuolating toxin and presents in all strains of Helicobacter pylori. There is significant difference between strains in vacuolating activity determined by different sequences in the middle (m) and signal (s) regions. Helicobacter pylori vacAm has m1 and m2 alleles, vacAs has s1 and s2 alleles. The higher grade of cytotoxic activity shows Helicobacter pylori with vacAs1m1 strains than s1m2, while s2m2 has not produced vacuolating cytotoxin. The effect of vacA gene alleles on gastroduodenal diseases in patients of Yakutia earlier has not been studied. The aim of this work is an associative analysis of the clinical outcomes of the vacA Helicobacter pylori variant gene and its association with the course of gastroduodenal diseases among Yakuts. According to the results of the histological report, 154 patients (out of 322 examined) were included in the study, who had H. pylori in the antrum of the stomach. Patients were divided into two groups: chronic gastri tis (n=65) and chronic gastritis with erosive and ulcerative lesions (n=89). The average age was 26,6 years. The diagnosis of chronic gastritis was established in 65 cases (42,2%), and chronic gastritis with erosive and ulcerative lesions was diagnosed in 89 cases (57,7%). A vacAs1m1 was found in 30 out of 39 patients with erosive and ulcerative lesions (76,9%) (p< 0,05) and 9 out of 39 patients – in the sample with chronic gastritis (23,1%) (p< 0,05). Other patients (n=115) did not have statistically significant differences in comparable groups. High percentage of vacAs1m1 alleles in patients with erosive gastritis in Yakutia suggests the hypothesis that this strain is the most cytotoxic and more common for severe forms of gastritis in peptic ulcer disease.

74-82 3
Abstract

Non-coding RNAs (miRNAs and long non-coding RNAs (lncRNA)) play an important role in many biological processes, and dysregulation can lead to various diseases, including colorectal cancer (CRC). The aim of the study was to analyze the differential expression of miRNAs in the tumor and normal tissues of patients with CRC, as well as the identification of potential lncRNA targets and target genes using methods of machine learning. Analysis of miRNA expression was performed by multiple parallel sequencing on a MiSeq instrument. For bioinformation analysis, DESeq2, TarPmiR, ORA (Over-Representation Analysis) and FMD (Functional module detection) algorithms were used. Sequencing revealed 6 differentially expressed microRNAs (hsa-miR-143-3p, hsa-miR-26a-5p, hsa-miR-25-3p, hsa-miR-92a-3p, hsa-miR-21-5p, hsa -let-7i-5p) in the tumor tissue of the colon is relatively normal. For these microRNAs, 97 target genes and 23 potentially interacting long non-coding RNAs were identified. Together they form a network of competitively expressed RNA characteristic of CRC, which is involved in the implementation of signaling cascades such as regulation of cell adhesion, activation of the immune response, regulation of the cellular response to hormones and stress, Wnt signaling pathway and cell migration regulation, regulation of proliferation and cell cycle, regulation interaction with viral agents, regulation of apoptosis and response to hypoxia. The data obtained expand the understanding of the mechanisms of gene expression regulation in CRC and can become the basis for a panel of tumor markers.

82-86 5
Abstract

The analysis of cytological samples of 100 women aged 23 to 60 years was carried out by liquid-based cytology. The predominance of NILM in the samples in comparison with intraepithelial lesions of the cervix was noted. Among intraepithelial lesions, low-grade LSIL was significantly more common. Positive HPV tests were found in less than half of the cases in tested women. Among the positive tests of high oncogenic risk the types 16 and 51 were considered as high-risk HPV types. There is approximately equal positivity of the high-risk HPV test in women with NILM and intraepithelial lesions (LSIL, HSIL, ASCUS). The positivity of the high-risk HPV test depends on age: in women under 45 years this indicator is higher than in women 46 years and older.
According to our survey, with cytological study it is necessary to apply integrated test approach when screening high-risk HPV infection. The combined use of liquid-based cytology and HPV testing can improve the effectiveness of diagnostics by reducing the amount of uninformative material and allows to detect pathological changes at an earlier stage. It will significantly increase the value of diagnostic measures and will improve cytologist’s experience in diagnosing and giving recommendations in clinical practice of cervical pathologies.

87-89 6
Abstract

The article presents the results of a study of the spectrum of mutations in the BRCA1 / 2 genes associated with the development of hereditary breast and ovarian cancer in patients of South Russia with malignant ovarian neoplasms.
Mutations in the BRCA1 gene were determined by real-time PCR: 185delAG, 300T> C, 2080delA, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT; in the BRCA2 gene - 6174delT in 178 patients with a histologically verified diagnosis of ovarian cancer.
The study included epithelial tumors (malignant) - 98.1%, and granulosa cell tumors - 1.9%. Of the epithelial tumors, the most common was high-grade serous carcinoma (78%). Based on the results of genotyping, the prevalence of germline mutations in the BRCA1 / 2 genes was revealed at 20.8%. The higher rate of genetic changes is obviously associated with hereditary history (40% of patients). Of the seven identified mutations, 5382insC (67.6%) was revealed more frequently. All patients confirmed the same mutation in the tumor. There were no cases of somatic changes in BRCA1/2. The prevalence of BRCA1 mutations was noted in the group of patients with low-grade serous carcinoma, in which all cases of mutations in the BRCA2 gene were identified.
Thus, in patients with OC living in the south of Russia, the mutation frequency in the BRCA1 / 2 genes was 20.8%. The distribution of mutation types with predominance of 5382insC BRCA1 (67.6%) corresponds to the ratio of their occurrence in populations of European countries. BRCA1 / 2 mutations were recorded more frequently in the group of patients with high-grade serous carcinoma.

ARCTIC MEDICINE

90-93 4
Abstract

The immune system constantly responds to various environmental stimuli. The aim of the study was to investigate immune effects of short-term cold exposure taking into account ATP level in peripheral blood lymphocytes in healthy residents of the North. So, the total number of lymphocytes and their phenotypes, as well as the content of cytokines and the concentration of ATP in the lymphocytes were determined in 38 volunteers twice (before and after their short-term stay for 5 minutes in a cold chamber at t = -25°C). Cluster analysis revealed two statistically different groups. The first group with an initially higher ATP level in lymphocytes responded to hypothermia by lower ATP concentration with the unchanging total number of lymphocytes as well as by a decrease in predominantly CD16+ killer-cells. The other group reacted by an increase in ATP concentration with a decrease in the number of lymphocytes and by a pronounced decrease in CD4+ helper-cells and in CD71+ cells with a transferrin receptor. Also, the proinflammatory cytokines TNFα and IL-6 increased in the first group, while the second group showed a decrease in the level of lymphocyte-activating cytokine IL-1β. It can be assumed that the response to hypothermia in the first group is provided through the CIRP-NFkB-TNFα axis and leads to an increase in the risk of non-infectious inflammation. For the second group, a protective mechanism is triggered to restrain lymphocyte activity and the development of T-cell-mediated inflammation through regulation by means of T-effector and T-regulatory cells AMPK balance, autophagy, mitophagy and mitochondrial biogenesis. The study of the immune response to hypothermia is important for understanding the cellular mechanisms of adaptation as well as for the search of targets to correct the immune response.

94-97 1
Abstract

The indicators of activity of lymphocyte enzymes in 99 healthy children aged 3 to 15 years living in the town Tynda in the summer season were studied. The increased activity of enzymes in the lymphocytes of children was detected as they mature. There were differences in enzyme activity indicators, manifested in a lower level of dehydrogenases in the group of 3-year-old children, higher acid phosphatase, and lower glycerol3-phosphate dehydrogenase in all age groups. The features of age-related dynamics of the correlation relationships of the studied indicators are noted and the periods of greatest adaptive tension in children are determined.

97-101 3
Abstract

We studied the features of a daily blood pressure profile in patients with arterial hypertension who arrived from the Far North regions for permanent residence in Central Siberia, depending on duration of stay in new climatic and geographical conditions. Despite the fact that among migrants with longer periods of residence after moving (more than 10 years) there was an increase in indicators of the daily profile of blood pressure, the largest number of persons with the changed daily profile were migrants with the period of residence up to 5 years after moving from the Far North. This is possibly due to the intensification of adaptation (readaptation) processes to new living conditions, due to a high level of neurotization and stress during this period.

NUTRITION IN THE NORTH

102-105 2
Abstract

Each ecological region has individual characteristics of metabolism particularly because of the indefinite landscape zone that can be inhabited by people of different ethnic and racial origin. The environmental factor of nutrition has a great influence on the metabolism characteristics. What macro- and micronutrients are consumed with food becomes a prognostic sign of the development of alimentary-dependent deviations that directly affect functional parameters of the body systems. The diet of 17-21 year old male indigenous residents of Magadan region (n = 38) and Chukotka Autonomous District (n = 52) has been analyzed. All the examinees were full-time students having similar living conditions. The ASPON-Nutrition program (Russia) was used to evaluate the young subjects’ nutritional profiles by analyzing their daily diets. The studied parameters were proteins, fats, carbohydrates, fiber, vitamins, and macro- and microelements. In addition, the energy value of the daily diet was assessed in kcal / day. Larger deviations from the current normative values of the body physiological needs in macro- and micronutrients have been found. The nutritional imbalance characterized by insufficient intake of proteins, fats, essential trace elements, and vitamins against the background of reduced energy value of daily calorie content has been shown. The revealed deficiency is much more typical at young men living in the city of Magadan. In general, the multilateral imbalance established in the diet of young indigenes indicates a violation of the basic principles of healthy eating (satisfying energy needs, balancing proteins, fats, carbohydrates) and can be associated with avoiding the traditional type of the diet by the indigenous population and turning to the classical Caucasian one which does not provide all the needs of the body of this ethnicity.

SCIENTIFIC REVIEWS AND LECTURES

106-111 10
Abstract

This article considers the use of microRNAs as a possible biomarker of epilepsy.
The presented studies have shown that microRNAs can be involved in the process of epileptogenesis by regulating the inflammatory response, apoptosis of neurons, and transcription factors involved in cell differentiation. Biological fluids (blood and CSF) of patients with epilepsy showed differences in the number of circulating microRNAs, which may allow further use of microRNAs as a diagnostic biomarker. Recent discoveries providethe sufficient source of new microRNA targets, but there are still significant problems of studying their role in pathogenesis and the possibility of their application in clinical practice.

112-115 5
Abstract

The article presents the results of the analysis of the literature data on the molecular genetic mechanisms of control and regulation of circadian rhythms that determine the chronotype of a person.
It has been established that disturbance of circadian rhythms arising as a result of psychoemotional and physical stress expressed in degree and / or duration, can lead to a decrease in the body's resistance to stress factors with the subsequent development of maladjustment processes, which in turn can be a trigger mechanism for the onset of the development of such pathological conditions as diseases of the cardiovascular system, gastrointestinal tract, autoimmune, mental, neurodegenerative, oncological and other diseases.
According to the results of numerous studies, the molecular genetic control of circadian rhythms consists of interacting positive and negative feedbacks of regulatory loops of clock genes, such as genes Bmal1, Clock, Per1, Per2, Per3, TIM, Npas2, Cry1 and Cry2, Csnk1d, Csnk1e, Rev-erbα, Rora, Bhlhe40, Bhlhe41, as well as genes FBXL3, FTO, MADD, CYP2A6, ARNTL, Mel1a, Mel1b and GPR50. The transcription factors encoded by these genes, enzymes, transporters, prohormones, signaling and other proteins are involved in regulation of daily frequency.
Despite the fact that the main components of the molecular genetic mechanisms of circadian rhythms are already known, the issue of regulating their work remains relevant today. The results of studies carried out on different populations with respect to individual polymorphic variants of genes are not always unambiguous and require a more detailed study, since it is the result of the interaction of genes that can determine their phenotypic effect.
Thus, understanding the molecular mechanisms and identifying genetic markers that cause disturbances in circadian rhythms is an important step in the development of methods aimed at preventing and correcting pathological conditions caused by maladjustment processes.

POINT OF VIEW

116-118 5
Abstract

The article presents a comparative analysis of life expectancy (LE) of the population of the Irkutsk region with data on the Russian Federation. According to the results of the correlation and regression analysis, the associations of LE at the municipal level with individual demographic indicators and health indicators were determined. Despite the growth of LE, the Irkutsk region belongs to the subjects of the Russian Federation with the lowest rates. To increase this integral indicator of health, the implementation of effective measures of the socio-economic programs of the region, differentially developed for individual territories, is required.

CLINICAL CASE

119-122 2
Abstract

In the article the literature data on MSA, the clinical features are studied and modern diagnostic criteria for this disease are provided.
We introduce our own observations of the patients with various forms of MSA who underwent inpatient treatment at the Center for Neurodegenerative Diseases of the Yakutsk Scientific Center for Complex Medical Problems in 2019-2020.
These clinical cases have been studied with the aim to draw attention of general practitioners and neurologists to the disease onset among elderly patients and to the syndrome of autonomic insufficiency, which may be the initial manifestation of MSA, since this rare disease has a rapidly progressive course and leads to mortaltiy. In turn, the early diagnosis of the disease contributes to timely correction of autonomic and motor disorders and ultimately increases quality and lifetime.

122-125 3
Abstract

The article presents a clinical case of eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome), which was diagnosed for the first time in a 27-year-old man with bronchial asthma, eosinophilia, and gastrointestinal tract involvement. A retrospective analysis of the disease demonstrates the difficulties in diagnosing this disease. In this clinical case, the diagnosis was made 1.5-2 years after the onset of the first manifestations of the disease, in the second period of the development of the disease, based on the symptoms of the disease that were identified in the patient: bronchial asthma, rhinosinusopathy, pulmonary infiltrates, hypereosinophilia, despite the absence of biological markers of vasculitis. This syndrome is infrequently in clinical practice; however, doctors of various specialties should be aware of identifying this syndrome in their patients.

125-130 1
Abstract

A literature review of the disease spinocerebellar ataxia type 17 (SCA 17) was carried out. The clinical observation of SCA 17 was presented considering the absence of inverse correlation between a degree of expansion and age of manifestation of SCA 17 symptoms, as well as direct relationship between the degree of expansion of repeats and the severity of clinical manifestations. We also revealed differences in the clinical picture of SCA 17 in this case and SCA 1, which is widespread in Yakutia.

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)