Over the past few decades, there has been a steady decline in fertility worldwide, while life expectancy has been increasing. This is leading to an ageing population. In today's aging world, cognitive disorders and dementia in the elderly are key problems. Thus studying the regulation of the molecular mechanisms of age-related cognitive impairment is an urgent task. Fourteen elderly and senile individuals with Alzheimer's disease participated in this study. The expression of circulating microRNAs at all stages was determined using kits from Qiagen (Germany).

A study was conducted to determine the expression level of circulating microRNAs: hsa-mir-483, hsa-miR-132, hsa-mir-29c, hsa-mir-193b in the blood serum of elderly and senile people suffering from Alzheimer's disease.

The data obtained by us indicates that in patients suffering from Alzheimer's disease, the levels of these micro-RNAs depended on age and the degree of cognitive impairment. Circulating mir-132-5p microRNA was detected in the blood serum of senile people suffering from moderate dementia, in contrast to elderly people with mild degree of dementia.

The purpose of this study was to evaluate glycemic control and its relationship with lipid parameters in patients with type 2 diabetes mellitus at the Noble Clinic OPD of Kabul-Afghanistan. The cross-sectional study involved 1486 patients with type 2 diabetes with at least 1 year of diabetes experience (897 women and 589 men) aged 18 years and older, who visited the clinic between March 2020 and April 2021. 7.7% of patients had adequate glycemic control (HbA1c less than 7%). High levels of H b A1c were statistically significantly associated with the duration of the disease and high levels of blood lipids, while no dependence was esTableished on the gender, age of patients, body mass index and the presence of obesity. It is necessary to study the factors that determine glycemic control, the correction of which will improve metabolic parameters and reduce the risk of developing complications in diabetes.

Stereotypies, along with tics, are the most common hyperkineses, especially among children. It has been esTableished that stereotypies can occur among children with normal development. At the same time, we found only one article on the prevalence of stereotypies among relatively healthy adults. The aim of the study is to assess the prevalence and nature of stereotypies among adults without neurological and intellectual disorders and to determine its relationship with tics and associated psychiatric symptoms. Material and methods. We have created an online questionnaire that includes 32 questions about the presence of movement disorders and their characteristics, assessment of anxiety, depression and attention level. 80 people were studied, including 21 men and 59 women, the median age was 23.0 [22.0; 26.0] years. The results of the study. Of the 80 people who participated in the study, signs of stereotypies, motor and/or vocal tics were identified in 60 people (75%). Each of them had from 1 to 15 symptoms (median – 3.5 [3.0; 6.0]). In 59 (73.8%) people, the revealed motor symptoms were regarded as stereotypies, in 10 (12.5%) people – motor tics, in 6 (7.5%) – vocal tics. In 4 people (5.0%), motor tics were combined with vocal tics, which is typical for Tourette's syndrome. Participants with violent movements were more likely to have a high level of anxiety (53.3% vs. 10%), which often indicated obsessive-compulsive symptoms (41.7% vs. 15.0%), and they also performed worse on the Schulte Table test (40.0 sec vs. 31.5 sec). In-person examination of respondents demonstrated a high level of sensitivity and specificity of the questionnaire in relation to stereotypies (100% and 66.7%, respectively), but a low level of sensitivity to tics (33.3%) with 100% specificity. Conclusion. Stereotypies are quite common among the adult population, even in the absence of organic brain damage and cognitive decline, and in about half of the cases they are combined with obsessive-compulsive symptoms and anxiety.

It is currently accepted that the reproductive capabilities of deaf people increase over time, and marriages between deaf people occur according to the principle of assortativity, which in total can lead to an increase in the frequency of one major autosomal recessive form of deafness. In this regard, the purpose of this work was to analyze the share and structure of assortative marriages based on deafness in the Republic of Buryatia. The sample of deaf individuals consisted of 201 people (113 female and 88 male) aged from 21 to 77 years (mean age 46.7 ± 7.9 years). For analysis of the marriage structure of deaf people, information was available for 168 marriages. Individuals were considered married if they had a registered marriage and/or if they had common children. An assortative marriage (AM) was a marriage in which both partners were deaf. An AM in which all the children were deaf was considered non-complementary, and an AM in which all the children were hearing was considered complementary. Marriages in which there were both hearing and deaf children were designated as segregating. An analysis of the marriage structure of deaf people showed that the proportion of marriages between deaf individuals in Buryatia is 81.8% (122 out of 149 marriages analyzed), and in 18.2% of cases (27 marriages) marriages were concluded between deaf and hearing people. Among all AM, the share of complementary marriages was 86.9% (106 out of 122), non-complementary 5.7% (7 out of 122) and segregating 7.3% (9 out of 122). It was revealed that with a high frequency of AM, the marital structure was characterized by a high proportion of complementary and low proportion of non-complementary and segregating AM, which may be explained by the peculiarities of the genetic structure of hereditary forms of hearing loss in the Republic of Buryatia.

The formation of the elemental status of the human body living in a certain region de-pends on the biogeochemical, ecological and geographical factors of the area, nutrition, and pro-fession. The content of chemical elements in the body and their ratio are an indicator of human health. For residents of the city of Ufa, a large industrial center of the Republic of Bashkortostan, References intervals for the concentration of macroand microelements in hair have been developed. However, to identify deficiencies, excesses or imbalances of chemical elements in the body, it is necessary to take into account gender and age differences. In this regard, the purpose of this work was to study the age and gender characteristics of the content of macroand microelements in the hair of residents of a large industrial city. The content of 12 chemical elements in the hair of residents of the city of Ufa of the age groups 18-29 years, 30-44 years, 45-65 years and over 65 years old was determined by atomic absorption spectrometry using devices with flame and electrothermal atomization.

In all age groups, a deficiency of zinc and copper was detected in the hair of both men and women against the background of excess chromium, lead and manganese. Median concen-trations of iron, magnesium, cadmium, mercury and arsenic are within the 25-75 centile range. A deficiency of calcium in the hair of men under 65 years of age was revealed; in women it was found in the range of References values. An excess of 4-11% of the upper limit of permissible Ni content in men was esTableished. There is a tendency towards higher accumulation of cadmium, lead and arsenic in the hair of the male population. In women over 65 years of age, the minimum levels of essential elements are determined calcium, magnesium, zinc and copper, in men of this age copper, iron and manganese. Toxic elements cadmium, lead and arsenic accumulate to their maximum at 65 years of age and older.

The results of the study can be used as an additional method for determining the charac-teristics and time of onset of various diseases, as well as for the medical correction of diselementoses and enriching diets with essential micronutrients.

A retrospective epidemiological study based on the data of the republican register of systemic lupus erythematosus of the Department of Cardio-Rheumatology of the Pediatric Center RH No.1 – M.E. Nikolaev National Centre of Medicine is presented in the article. The peculiarities of the clinical course and therapy of the disease were analyzed taking into account the ethnicity of the patients. It was found out that the incidence of SLE is higher among the residents of the Republic of Sakha (Yakutia) compared to the neighboring regions of the Russian Federation.

Lung cancer is one of the most commonly diagnosed malignant tumors worldwide and is characterized by high mortality. Lipid peroxidation plays a very important role in the development and progression of lung cancer. In this regard, the purpose of this study was to evaluate the status of lipid peroxidation and the glutathione system in patients with lung cancer depending on the histological form and stage of the disease.

In this work, 100 people with lung cancer with various histological forms and stages of the disease were examined. The intensity of free radical oxidation of lipids was assessed by the accumulation of malondialdehyde. The indicators of the glutathione system were assessed by the concentration of the reduced form of glutathione and the activity of enzymes: glutathione peroxidase, glutathione reductase, glutathione transferase.

Our data indicate that as the clinical stage of lung cancer develops, the level of lipid peroxidation increases, against the background of inhibition of the glutathione system (decreased glutathione reductase activity). Higher levels of malondialdehyde in patients with adenocarcinoma suggest that tumor development may be more closely related to oxidative stress.

The study is devoted to studying the relationship between the rs9939609 polymorphism of the FTO gene and body mass index (BMI) in the Yakut population. The sample consisted of 521 participants of Yakut nationality without diabetes mellitus and not registered with a dispensary, aged from 18 to 75 years, 222 women and 299 men. An analysis of the distribution of frequencies of occurrence of alleles and genotypes was carried out, as well as an analysis of BMI indicators in groups with different genotypes of the rs9939609 polymorphism of the FTO gene, during which similarities were found in the ratios of allele frequencies with populations of East and South Asia. Statistical analysis using the Kruskal-Wallis test with multiple analysis Dunn's test with Bonferroni correction and the odds ratio (OR) with the significance test with Yates' correction within the study showed a weak association of obesity with the risk allele A when comparing the group with normal BMI and the combined group of obesity + pre-obesity p = 0.043.

There has been an increase in the ratio of elderly and senile people to the general population who need prosthetics. At the same time, complete teeth loss leads to various anatomical-topographical changes in the denture bed in the elder age group. Meanwhile, there are insufficient researches aimed at improving the fixation and stabilization of complete removable dentures, which determined the direction of our study. The aim of this research was to increase the degree of retention of complete removable dentures by creating additional valve zones, taking into account the individual anatomical-topographical variability of the denture bed structure of the maxilla.

Material and Methods. Prosthetics of 115 people aged from 60 to 93 years old with complete teeth loss on the upper jaw was carried out. Prosthetics were performed by the method of determining the locations of individual valve zones in the area of the pliable mucous membrane of the denture bed on the edentulous upper jaw, including the use of a digital model of the denture bed obtained by cone-beam computed tomography (CBCT) with the use of a contrast agent and subsequent analysis in 3D graphics editors.

Results. Additional retention elements were determined with the individual anatomical-topographical variability of the location of the malleability zones, places of exit of the neurovascular bundles and places with dense mucosa on the upper jaw to improve the retention of the prosthetic structure. At the same time, the obtained results characterize the increase in the efficiency of functional retention of complete removable prostheses due to the creation of consecutive concentrically closed valve zones, which create negative pressure zones medial to the borders of the prosthetic bed.

Discussion. The developed method provides conditions for increasing the efficiency of retention and functionality of complete removable plate prostheses on the upper jaw due to accurate determination of individual anatomical-topographical features of the prosthetic bed, thickness of the mucous membrane, places of exit of neurovascular bundles, torus and exostoses. The probability of vascular compression with microcirculation disturbance and traumatization of soft tissues adjacent to the prosthetic structure was significantly reduced. The method minimizes alternating loads in the area of torus and exostoses in the area of maxillary tubercles, which significantly reduces the probability of fracture of the base of a full removable plate prosthesis.

Conclusion. Our method in case of depressurization of external valve zones increases the degree of retention and stabilization of complete removable orthopedic constructions on the upper jaw during the operation. At the same time, retention is provided by additional internal valve zones located in places where there is sufficient pliability and there are no neurovascular bundles and exostoses.

There are several theories of the origin of epithelial coccygeal diseases: empirical, neurogenic, ectodermal and acquired. Most Russian scientists consider this pathology to be congenital, while foreign colleagues tend to believe that it is a consequence of injuries to the sacrococcygeal area. This disease occurs quite often, affecting more than 5% of the adult population, including children and adolescents, significantly impairing the quality of life, which affects all aspects of their life.

Conservative methods of treatment include sclerotherapy and obliteration of the cavity with silver nitrate or hydrochloric acid, which is not used today, since a positive result of treatment of the epithelial coccygeal course is not achieved, because the cause of the disease is not eliminated.

Surgical treatment is the most effective method of treating epithelial coccygeal stroke. Surgical treatment, despite the simplicity of its execution, is quite scrupulous. The high incidence of complications after surgery and the long period of disability often disappoint surgeons. The resulting rough scar has an undesirable cosmetic effect, and the probability of recurrence remains quite high. The problem of creating and implementing new methods of treating pilonidal disease remains relevant in our time.

Based on the results of the expert assessment of the medical records of children who received treatment in the 24-hour hospital, the following was revealed: 75% (2021) and 25% (2022) of patients were unreasonably hospitalized; there was an overlap between the flows of patients with infectious and somatic pathology; records in the medical history do not reflect a complete review of the patient and the dynamics of observation; there is no justification of the diagnosis and prescription of medications; the time of observation, transfers and examination of patients is not indicated; when consulting with other specialists, there are no records in the medical history of the patient; there is a lack of justification and interpretation of instrumental and laboratory tests, etc. The identified problems should be taken into account when developing organizational measures for improving medical care for children in hospital.

A modern approach to the diagnostic support of patients with allergic diseases involves the introduction of innovative developments in the field of precision medicine, the development, identification and use of reliable biomarkers, including the determination of individual genetic variability in living conditions at various territories of the Russian Federation. The aim of the study is to investigate the role of the Ile105Val polymorphism of the GSTP1 gene (rs1695) in the development of allergic pathology and its connection with the characteristics of the formation of the immune profile in the child population of the industrial center of the Western Urals. Materials and methods. The observation group consisted of 34 children with allergic pathology. The comparison group included 37 children, relatively healthy, without allergies. Markers of hypersensitivity and cytokine status were studied using enzyme-linked immunosorbent assay. Genotyping was performed using real-time polymerase chain reaction. Results. In the group of children with allergic pathology, an increase in the eosinophilic-lymphocyte index was shown by 1.8 times, total IgE concentration by 4.7 times, a change in the level of serum cytokines IL-10 by 1.3 times and IL-4 by 1.8 times relative to the comparison group (p=0.005-0.038). Genetic analysis of the Ile105Val polymorphism of the GSTP1 gene revealed a 2.0-fold increase in the frequency of the homozygous AA genotype in the observation group (p=0.01). Allele A was associated with the development of allergies in the examined children (OR=2.36; 95% CI=1.16-4.79), while allele G had a protective value (OR=0.33; 95% CI= 0.12-0.89). An increase in the concentration of total IgE and blood eosinophils in carriers of the AA genotype was shown to be 4.6 times and 1.9 times, respectively, relative to owners of the AG and GG genotypes (p=0.013-0.031). Conclusion. Allele A and genotype AA of the polymorphic variant Ile105Val of the GSTP1 gene in children with allergic pathology act as sensitivity markers associated with the formation of allergies, a significant increase in total IgE, blood eosinophils and the anti-inflammatory cytokine IL-4, and can be considered as promising indicators of pathophysiological conditions associated with risk of development of atopic processes (allergic pathology) in children (RR=1.61; 95% CI=1.06-2.44) living in the Western Urals.

This article analyzes the statistical studies results of the epidemiological prevalence of measles infection in Russia, neighboring and foreign countries for the period from 2017 to 2023. A comparative characteristic of the measles incidence has been carried out in the Russian Federation, Ukraine, Georgia, Kazakhstan, and the USA. The effect of immunization results on morbidity is shown. The increasing risks of outbreaks of morbidity associated with migrations and import processes during the import of the causative agent of measles infection have been identified.

The reasons for the lack of vaccination against measles among the entire population are considered. Data on vaccination coverage among residents of the Russian Federation are provided. Social groups that are less resistant to outbreaks of the disease due to the lack of immunization have been identified. All risks and possible complications due to high morbidity among the entire population are reflected. The restrictive measures influence related to the unfavorable epidemiological situation of COVID-19 was noted. The relationship is presented between the introduced restrictive measures related to the new coronavirus infection and the reduction of measles outbreaks among different countries, as well as the general incidence. The prevention importance is shown among children and adults, as well as the importance of timely detection of new measles infection outbreaks.

A comparative analysis of medical, social, clinical and laboratory parameters in pregnant women with a new coronavirus infection (NCI) COVID-19 of varying severity was carried out. For the first time, the level of serum erythropoietin was studied in this category of patients; for the first time, a statistically significantly lower level of erythropoietin was detected in pregnant women with extremely severe COVID-19. The threshold value of serum erythropoietin level was determined to predict the development of extremely severe COVID-19 in pregnant women.

Neuroenergy exchange of the brain acts as a significant indicator affecting the preservation of neuropsychic activity in elderly age The aim of the study was to identify the features of the DC-potential level in various periods of old age in women living in the Arctic zone of the Russian Federation. The study involved 192 Northerners who were divided into age groups: 1 — 60-64 YO; 2 — 65-69 YO; 3 — 70-74 YO. The evaluation of cerebral energy exchange indicators was carried out by the hardware and software diagnostic complex "Neuroenergometer-KM" "Statokin". Registration of the DC-potential level was carried out monopolarly from 12 leads esTableished in accordance with the international scheme 10-20.

In the studied groups of elderly women, there is a change in the median values of the DC-potential level, demonstrating pronounced fluctuations in the distribution of brain energy consumption in the aging process. Brain metabolism decreases with age, but in old age there may be a multidirectional change between glucose metabolism and acid-base balance, indicating oxidative stress.

Then, at the age of 65-69, there is a gradual development of mental and physiological compensatory mechanisms, which leads to a relative normalization of neuroenergy exchange of the brain. The next increase in the DC-potential level of the brain begins to be traced at the age of 70-74 years. Probably, it is at this age that the decline of physiological compensatory processes begins to occur.

The obtained results made it possible to identify the peculiarities of the distribution of the DC-potential level in women of different age groups and to esTableish normative values. The developed standards will improve the quality of diagnostics of the functional state of the brain in women living in the Arctic Zone of the Russian Federation, and will also allow timely monitoring brain functional changes in aging.

This study aimed at the specific performance of respiration system based on the ontogeny. Four hundred and fifty-two male residents of Magadan aged 15-74 participated in a comprehensive age-associated survey that involved 4 groups: adolescents, early adults, workable men of mature age and the elderly. The lungs volumetric and velocity characteristics were analyzed using computer spirometry. Most indicators of external respiration proved to be significantly age specific. The maximum values were observed in the early adulthood followed by a fall in men of older age groups. The revealed changes indicated lowered reserve capabilities of the respiration performance with increasing duration of residence under the North conditions and suggested reduced adaptabilities of the body owing to the chronic adverse effects of natural and climatic environmental factors.

The review presents a description of methods and results of various experimental studies of corneal biomechanical properties: the technique of tensile testing, the indentation method, and atomic force microscopy. Corneas of experimental animals and humans (in particular, donor eyes and material obtained as a result of keratoplasty) are considered as "sources" of samples. Selective evaluation of individual corneal structures using classical mechanical tensile tests is limited to a certain extent due to the rather small thickness of these structures and, as a consequence, difficulties in fixing the specimen. In real practice, it remains promising to use indentation and AFM, which are more adapted for such studies, on the one hand, eliminating the need for mechanical fixation of the specimen, and on the other hand, providing the possibility of studying various areas and surfaces of the latter.

The purpose of this review is to integrate data on the role of blood transport proteins in adaptation reactions to extremely uncomforTable conditions of the North and Arctic of the Russian Federation. Regulation of shifts in homeostasis in humans under unfavorable Arctic conditions is carried out, among other things, by increasing the production of haptoglobin and transferrin, which perform antioxidant and immunomodulatory functions. An increase in the concentration of immunoglobulins in the blood ensures the efficiency of utilization of metabolic products, components of cellular destruction and damage. In the unfavorable conditions of the North and the Arctic, a shift and disruption of adaptive changes in lipid metabolism occurs.

Type 2 thyroid allostasis is a dynamic stress response to changes in thyroid homeostasis that may occur in response to chronic exposure to cold. It is believed that, under these conditions, type 2 allostatic reactions can increase the basal metabolic rate to maintain priority thermogenic mechanisms in the body. For the first time, this work assesses the allostatic response of the thyroid gland among residents of the central region Yakutia with the most extreme climate (from -47°С to -11°С) using a mathematical model called SPINA. The SPINA model reflects the total activity of peripheral deiodinase enzymes (SPINA-GD), as well as the secretory capacity of the thyroid (SPINA-GT). The results showed that the SPINA-GT parameter was within normal limits for all individuals in the study. However, the SPINA-GD parameter was also within normal limits in 30% of those examined, with an increased SPINA-GD value found in 70% of the individuals examined. It was revealed that individuals with elevated SPINA-GD had higher free triiodothyronine (fT3) levels (6.79±0.62 pmol/L) and lower free thyroxine (fT4) levels (13.82±1.51 pmol/L) than those with normal SPINA-GD (fT3=5.96±0.48 pmol/L; fT4=15.37±0.98 pmol/L; p<0.001). This indicates an increased rate of T4 deiodination to T3 in 70% of the most individuals, and the reason for this is likely due to type 2 thyroid allostasis in response to cold stress. Using the SPINA parameters for the first time allows us to identify changes in hypothalamus-pituitary-thyroid axis homeostasis during the winter-spring season among 70% of surveyed residents of Eastern Siberia.

A common complication of HBV and HCV is liver cirrhosis, which is based on chronic systemic inflammation associated with immune dysfunction that affects the progression of the disease.

The purpose of the study. Determination of NLR and lymphocyte apoptosis index as a marker of the degree of inflammation and systemic immuno-inflammatory response in various degrees of liver fibrosis in patients with viral hepatitis.

Materials and methods. 107 patients underwent the study, of which 53 patients were diagnosed with HBV and 54 with HCV. The blood levels of leukocytes, neutrophils, and lymphocytes were studied in the studied patients and the neutrophil/lymphocyte ratio (NEU/LYM) was determined. In order to verify structural changes in the liver, ultrasound elastometric examination was performed on a 2D – Supersonic Aixplorer SWE device (France) for all persons with esTableished viral hepatitis. The examination of patients was carried out according to the Cut–off scale, and liver fibrosis was determined by the METAVIR scale. A group of 10 practically healthy individuals was selected as a comparison group. The values of the indicators were expressed in kPa, the value of the indicator 7.1 kPa corresponded to F2, 9.2 kPa – F3, F4≥13.5 kPa. Verification of HBV and HCV was carried out by PCR on the device “Rotor Qene Q” (Germa

The results obtained showed an increase in the absolute number of lymphocytes with a decrease in the NLR indicator against the background of a decrease in the apoptosis marker of CB95+ lymphocytes with varying degrees of liver fibrosis. A decrease in this marker reflects the damaging effect of hepatotropic viruses, which is indirectly confirmed by the detected leukocytosis.

Time to the most recent common ancestor (TMRCA) of Sakha men with haplogroup N3a2-M1982 of the Y chromosome was evaluated by 23 STR markers using the mutation rate constant of Y-STR loci that we had previously calculated. The obtained TMRCA values indicate a period of ~1300-1400 years ago (VI-VII centuries AD), associated with the primary expansion of the population. Based on genetic data and analysis of texts from ancient Chinese chronicles, a hypothesis has been put forward about the connection of the ancestral Sakha population with the Yuzhe people, who supplied mammoth ivory to China

Sweet's syndrome is a rare type of dermatoses, which characterized by a recurrent course, painful bright red papules, inflammatory plaques, fever and neutrophilic leukocytosis. The article demonstrates a clinical case of Sweet's syndrome associated with hypomethylating agents in patient with myelodysplastic syndrome. The diagnosis was verified based on clinical features which included purplish-red colored skin plaques with ulcerative-necrotic defects right after azacitidine and decitabine therapy; profound therapeutic effect from steroids, plasmapheresis, ineffectiveness of antibiotics, antifungal drugs; increasing the level of neutrophils. The concurrent severe course of the diseases was complicated by extensive necrotic skin lesions of the lower extremities, which required surgical intervention. The recurrent course of Sweet's syndrome and the ineffectiveness of maintenance doses of prednisolone required a consideration of changing treatment approach of myelodysplastic syndrome with the discontinuation of hypomethylating agents.

Therapeutic tactics for patients with a rare disease, Sweet's syndrome, should be selected individually, taking into account the form of the disease and concomitant pathology.

Introduction. Ullrich congenital muscular dystrophy (Ullrich СMD, OMIM #254090) is the most severe form of skeletal muscle collagenopathy associated with three genes (COL6A1, COL6A2, COL6A3).

The purpose of the report was to present our own observation of clinical cases with Ullrich congenital muscular dystrophy in two unrelated Yakut families.

Materials and methods. A clinical and genealogical examination, electroneuromyography, muscle MRI, muscle biopsy, and molecular genetic research using the massively parallel sequencing method were carried out.

Results. The cause of the disease in the first family was two mutations in a compound heterozygous state: c.1561C>T and c.2329T>C in the COL6A2 gene; in the second family, the c.2329T>C mutation in the COL6A2 gene in a homozygous state. The clinical picture of the disease was manifested by muscle weakness and hypotonia, hypermobility of the interphalangeal joints, contractures of the elbow, ankle and knee joints, delayed motor development, spinal deformity, and skin changes. The type of inheritance in families is autosomal recessive.

Conclusions. Despite the rarity of the disease, neurologists and geneticists, when identifying symptoms of myopathy, delayed motor development, and the presence of hypermobility in the distal joints, contrasting with retractions of the proximal and axial joints, must be alert to Ullrich CMD. Next-generation sequencing techniques make it easier to diagnose the disease.

Autosomal dominant spinocerebellar ataxias (AD SCA) can present with a wide variety of non-cerebellar symptoms, including movement disorders. In fact, movement disorders are common in many different subtypes of SCA, and they may be present, dominant, or even an isolated feature of the disease. In this article we describe 9 clinical cases of spinocerebellar ataxia type 1, the clinical picture of which includes cervical dystonia with laterocollis. In all cases, a mutation in the ATXN1 gene was detected.

Valvular bronchoblocation is a minimally invasive non–drug method of treating pulmonary tuberculosis and its complications. The method is based on the creation of therapeutic hypoventilation in the affected area of the lung while maintaining the drainage function of the bronchus by installing an endobronchial valve in its lumen. The article describes a case of effective application of the valvular bronchoblocation method in an acute progressive form of tuberculosis caseous pneumonia, in a patient with multidrug-resistant tuberculosis pathogen (MDR MBT).

The article presents an interesting clinical case of Willebrand's disease in combination with Crohn's disease and congenital heart disease in a 17-year-old Sakha teenager. Such clinical cases are rare in the public literature, since the combination of these diseases is practically not found. The onset of Crohn's disease at the age of 16 significantly affected the development and severity of clinical manifestations. Therapy with a genetically engineered biological drug and substitution therapy made it possible to achieve clinical and laboratory remission.

Intradural lipoma (spinal cord lipoma) is a rare benign tumor in the spinal cord consisting of white fatty tissue. The article presents a clinical case of intradural lipoma in a newborn.

Introduction. The main diagnoses leading to the use of ECMO in pregnant women and the postpartum period are acute respiratory failure (62.7%). Adrenal dysfunction due to critical illness (CAD) often determines the severity of the patient's condition and the outcome of their illness.

Aim. Timely detection and adequate correction of CAD in women in labor using ECMO.

Materials and methods. A patient after delivery with community-acquired severe bilateral polysegmental pneumonia who required the use of ECMO. Results. Against the background of combined treatment with norepinephrine and hydrocortisone, early stabilization of hemodynamics and septic complications was achieved.

Conclusions. CAD is characterized by vascular insufficiency requiring the use of vasopressors. Timely and adequate correction of adrenal dysfunction during the development of a critical condition makes it possible to reduce the severity of the intensive care patient’s condition and improve the outcome.

The article presents a clinical case of Huntington's with the aim of analyzing the causes of difficulties in making a diagnosis. The etiopathogenetic basis of the disease is given. It is noted that Huntington's disease is a disease caused by the expansion of tandem microsatellite repeats. It has been shown that as a result, a mutant huntingtin protein is synthesized, which plays an important role in the formation of the nervous system in the embryo.

A clinical case is described in a child diagnosed with Huntington's disease (Westphal form), confirmed by molecular genetic research: CAG repeats were detected in the first allele of the HTT gene. It is noted that during diagnosis, an important point is to determine the type of inheritance and determine the Sherman effect and anticipation.