CLINICAL MEDICINE
Tuberous sclerosis (TS) is a genetically determined orphan disease that has a progressive course and leads to irreversible morphological changes in various organs and systems due to the formation of multiple benign tumors (hamartomas). Despite the fact that hamartomas are of a benign nature, gradually increasing in size, they disrupt the functions of organs, which leads to the development of life-threatening conditions, disability and shortening of life. For newborns and infants, lesions of the brain and heart are most characteristic.
The frequency of tuberous sclerosis among newborns varies from 1:6,000 to 1:10,000 and is inherited in an autosomal dominant manner. The polysystemic nature of disorders suggests a diverse clinical picture of TS, which varies significantly depending on the age at the onset of the onset, severity, and rate of progression. Currently, in the TS clinic, the main (large, primary) and additional (small, secondary) signs are distinguished. The main signs include convulsive paroxysms, damage to the skin, impaired intelligence, the presence of tumor-like formations in various organs.
This article presents a clinical case of tuberous sclerosis in a newborn, the data of his anamnesis, diagnosis, clinic and outcome. This clinical case of tuberous sclerosis allows us to focus the attention of ultrasound diagnosticians, pediatricians, neonatologists, resuscitators of neonatal intensive care unit on the features of diagnosis, clinic, and treatment of this pathology.
The сommunity-acquired pneumonia is a widespread pathology of the respiratory organs, which occupies a leading place in the structure of morbidity and mortality from infectious diseases in developed countries. The patients with severe community-acquired pneumonia present the greatest problem for physicians. Despite the available diagnostic and treatment methods, including modern antibacterial medicine, mortality in this category of patients remains high, and treatment is complex and expensive.
The purpose of the analysis of this clinical case was to study risk factors, features of clinical manifestations, differential diagnosis and therapy in patients with severe community-acquired pneumonia occurring with lung tissue destruction.
In the clinical case, the patient had the background of such risk factors as a long smoking history with a smoker index of 60 pack/years with the formation of chronic obstructive pulmonary disease; alcohol abuse; toxic-alimentary damage to the liver; facts of aspiration on the background of vomiting; prolonged stay in a horizontal position, due to secondary toxic-metabolic polyneuropathy with severe motor disorders. The break in antibiotic therapy developed community-acquired bilateral polysegmental pneumonia, severe form with cavities, destruction of both lungs caused by multiresistant gram-negative microflora, complicated by the development of respiratory failure of degrees 2, polyserositis, and anemia.
The patient underwent an extended examination in accordance with the Federal clinical guidelines for the diagnosis and treatment of community-acquired pneumonia. Differential diagnosis was carried out with pulmonary tuberculosis, lung cancer, new coronavirus infection. In the treatment, according to clinical recommendations, controlled oxygen therapy, combined antibiotic therapy taking into account the data of the antibiogram, mucolytic, antioxidant therapy, treatment of underlying diseases and symptomatic therapy were carried out.
Against the background of the treatment, the patient showed positive clinical, laboratory and radiological dynamics, in the form of an improvement in general well-being, normalization of laboratory parameters and partial resorption and a decrease in the volume of decay cavities in the lungs.
Tuberculosis as a social human disease has been known since ancient times. Morbidity and mortality from multidrug-resistant TB (MDR-TB) and extensively drug-resistant TB (XDR-TB) both in RS(Y) and in the Russian Federation remain high.
In recent years, studies have been conducted on the effectiveness of chemotherapy using the drug bedaquiline. In the State Budgetary Institution of the Republic of Sakha (Yakutia) SPC “Phthisiology”, the prescription of bedaquiline to patients with MDR and XDR-TB in IV/V RCT started in 2019.
The purpose of the article is to evaluate the effect of treating multidrug-resistant tuberculosis with the inclusion of the drug bedaquiline in IV/V RCT in newly diagnosed patients with respiratory tuberculosis. The material and method of study were 80 patients with pulmonary tuberculosis with multiple and extensive drug resistance, determined by the method of drug susceptibility testing in nutrient media and molecular genetic methods. The article considers a social characteristic with a description of the clinical forms of pulmonary tuberculosis and the effectiveness of treatment. As a result, it was found that when the drug bedaquiline was included in the standard IV and V RCT regimen, there was a high efficiency of treatment in a short time with no undesirable side reactions. Statistical processing of the obtained data was carried out using statistical programs.
Influenza A(H1N1)pdm09-infection is known to induce exuberant proinflammatory cytokine response in both respiratory and extra-respiratory tissues. Interleukin 10 is a powerful anti-inflammatory factor in intercellular interactions, including the main participants in adaptive cellular and humoral immunity – lymphocytes and platelets (lymphocyte-platelet adhesion). Interleukin 10 contributes to the effective regulation of cellular homeostasis in minimal concentrations. Genetic defects in the genes of anti-inflammatory cytokines can contribute to different production of encoded molecules, which determines the individual characteristics of the course of the infectious process in carriers of polymorphic mutations. The study was performed in 89 patients with influenza A(H3N2) and 96 healthy residents. Gene polymorphism of IL-10 was detected by PCR method. Amplification of IL-10 gene fragments was performed in a thermal cycler (Model “BIS”-M111, Novosibirsk). The percentage of lymphocyte-platelet aggregates (LTA) determined by light microscopy (method of Yu.A. Vitkovsky (1999)). The cytokine level measured by solid-phase ELISA using a set of reagents of Vector-Best (Novosibirsk). The program Statistica 10.0 was used for data processing. Such methods as Equilibrium Hardy-Weinberg, χ2-test and odds ratio descriptive statistics were used. It was found that the chance of developing influenza A(H3N2) increases in persons carrying the allele T 2,18 [CI95 %: 1,33-3,58]) (р=0,002), heterozygous C/T variant (2,88 [СI95 %: 1,56-5,32]) (р=0,002) of the IL-10 gene promoter (C819T) and allele A (4,23 [CI95 %: 2,50-7,14]) (р=0,002), heterozygous G/A (5,60 [CI95 %: 2,84-11,04]) (р=0,001) of the IL-10 gene promoter (G1082A). Among influenza A(H3N2) patients, the C/C and G/G homozygous carriers had the lowest concentration of IL10, while the highest concentration was found in the carriers of the T/T and A/A variants. Carriers of the C/C and G/G genotype of the IL-10 gene promoter (С819Т, G1082A) have the highest ability for lymphocytic-platelet adhesion in influenza A(H3N2).
The purpose of this study is to determine the specifics of the effect of CHF on the severity of the course of NCVI. The material of this study was the case histories of 814 patients who were on inpatient treatment in the pulmonology department of the Yakut Republic’s Clinical Hospital in connection with NCVI complicated by bilateral polysegmental viral pneumonia from May to December 2020. The research method is a retrospective analysis of the data obtained. The following results were obtained during the study: the frequency of initial CHF among the patients hospitalized with NCVI complicated by bilateral polysegmental, viral pneumonia made 9.7 %, which is higher than the average for the Russian Federation (7 %). A direct positive relationship was found between the level of brain natriuretic peptide (BNP) and the degree of lung damage according to computed tomography (CT), correlation coefficient (r) = 0.77, which confirms the effect of CHF on the severe course of COVID-19.
Guillain-Barre syndrome (GBS) is a rare, severe disease of peripheral nerves and nerve roots, which is usually caused by infections. Since the beginning of the pandemic of the new coronavirus infection COVID-19, numerous cases of Guillain-Barre syndrome have been presented in scientific publications, which developed in patients at various times after suffering the new coronavirus infection. The purpose of this study was to investigate the features of the development and course of GBS associated with COVID-19. Nine patients with an established diagnosis of GBS were examined, with six of them being infected with the SARS-CoV2 virus. A comparative study of the features of the course and severity of the disease was carried out in two groups: the main group – GBS associated with COVID-19; and the control group – GBS without COVID-19. Based on the data obtained, it can be said that GBS against the background of the new coronavirus infection develops more often in men over the age of 50 and proceeds much more severely than GBS unrelated to COVID-19. Axonal lesions with a longer and incomplete recovery of motor functions, with the development of severe respiratory failure requiring prolonged ventilation, were significantly more common in patients with COVID-19.
Cardiovascular diseases occupy a leading position in the structure of mortality in most countries of the world, including Russia. The World Health Organization predicts further increases in cardiovascular morbidity and mortality in both developed and developing countries due to population aging and lifestyle patterns. Among the causes of cardiovascular mortality, IHD ranks first, followed by cerebrovascular disease, the main cause of the occurrence and development of which is atherosclerosis of the arteries, caused by a violation of lipid metabolism. The article discusses the role of the genetic factor in the formation of familial hypercholesterolemia and presents the first clinical cases with the results of molecular genetic confirmation of the low-density lipoprotein receptor gene mutation in patients of the Lipid Cabinet, Republic’s Clinical Hospital No. 3 with a diagnosis of “Definite” familial hypercholesterolemia. Despite the unconditional need for early detection of familial hypercholesterolemia for the primary prevention of atherosclerotic cardiovascular diseases, it should be noted that patients have low adherence to lipid-lowering therapy and low interest of the index patient in conducting cascade screening. Comparison of genetic differences in FH in the Yakut population between different ethnic groups requires further research.
PREVENTIVE MEDICINE
The number of Internet users is increasing every year: 62.5 % of the world’s population already have access to the World Wide Web. Most of them are people aged 12-24 years. It is this age range that is the main risk group for the development of Internet addiction (IA). The COVID-19 pandemic, in turn, has had a huge impact on increasing the time spent by citizens on the Internet. The purpose of this study is to identify the impact of the COVID–19 pandemic on the development of IA among students on the example of the Northern State Medical University of Arkhangelsk; search for currently created IA prevention measures; update them and develop new ones. Materials and methods: To assess the impact of the COVID-19 pandemic on the development of IA, an intra-university online survey was conducted using the Kimberly Young methodology (Internet Addiction Test, IAT). The theoretical analysis of the problem was carried out on the refereed databases: eLibrary.
Ru, CyberLeninka, PubMed, MEDLINE and Cochrane Library. Results: during the COVID-19 pandemic, most of the students increased the duration of their stay on the Internet; however, the average value of +3.39 points does not allow us to say that this increase had a significant impact on the formation of IA. In accordance with the WHO classification, the main methods of prevention are presented from: the formation of a culture of Internet use by parents, conducting preventive conversations – as primary prevention. Secondary prevention consists in the use of the PROTECT curriculum, applications for digital detoxification; the formation of a self-determination setting or the use of professional assistance (clinical psychologists, educational psychologists, etc.). As a type of tertiary prevention, it is necessary to consider methods of social support, the creation of favorable and emotional conditions in the real world and the training of addicts in controlled Internet use.
HEALTH SCIENCES
The priority task for the modern medicine is timely diagnosis, treatment and prevention of diseases. This article examines the level of total immunoglobulin E in patients with allergic diseases such as bronchial asthma, allergic rhinitis, atopic dermatitis, etc.
The authors set a goal to investigate changes in the level of total immunoglobulin E in patients with allergic diseases. We analyzed the primary results of determining total IgE by enzyme immunoassay.
When analyzing the primary result of total IgE in a population with a history of allergic disease (atopic dermatitis, allergic rhinitis, allergic bronchial asthma, etc.), normal levels were observed in 41 % of patients; an increased level was observed in 144 patients up to 500 IU / ml in 46 % and over 500 IU / ml – 13 %.
Important in the diagnosis of type 1 allergic reactions is the level of total IgE, exceeding the maximum values (above 500 IU / ml). In other types of allergic reactions, the level of total IgE may be increased, but does not exceed the level of more than 500 IU / ml, even in the acute course of the disease.
Interpretation of changes in the total level of immunoglobulin E, along with other data from the study of the immune status, can significantly help in screening for allergic diseases. When diagnosing an increased general level of immunoglobulin E and with early involvement of preventive and therapeutic measures, it is possible to significantly improve the condition of a patient with atopic forms of allergy and avoid serious complications.
The purpose of this work is to present the mechanism of statistical data processing necessary to assess the sensitivity of the human cardiovascular system to geomagnetic disturbances. However, the approach proposed by us can be used not only to identify the relationship between the daily level of geomagnetic disturbance and the performance of the cardiovascular system, but also to solve other similar problems. Materials and methods, namely, standard statistical techniques, such as χ2, and Fisher’s exact test, allowed us to find the solution necessary to establish the relationship between the level of disturbance of the geomagnetic background (Kp-index) and indicators of the functional activity of the cardiovascular system (T-wave symmetry coefficient), when registering an ECG signal in the phase space of coordinates. This paper considers a case in which the data obtained from the study of the values o f the symmetry coefficient of the T wave of an anonymous patient appear, as well as a series of data reflecting fluctuations in the daily index of geomagnetic disturbance recorded daily for 24 days of the study. The result of the work carried out is a working and sufficiently original data processing algorithm that makes it possible to distinguish between people who are sensitive to geomagnetic background disturbances and those who are insensitive to this factor. In the case described as an example in this paper, a significant relationship was found between the presence of geomagnetic disturbance and deviations of the indicators of the activity of the cardiovascular system from normal values, of a functional nature, as evidenced by the significance level p<0.05 obtained for the χ2 criterion, and the exact criterion Fisher, whose value was 0.04977.
A survey of personal publications on cellular technology researches for the past 10 years was made. It was found that in some cases, multipotent stem cells (MSCs) stimulate sclerosis and can cause the development of connective tissue. The application of MSCs for acceleration of the development of granulation tissue vessels is indicated, since MSCs are directly involved in angiogenesis by differentiation into vascular wall cells; this can contribute to a faster clearance of detritus from the wound and an earlier onset of repair processes after surgeries. Despite the literature data, no differentiation of the injected MSCs into highly specialized cells of organ structures was observed. Injected MSCs, as well as their detritus, are phagocytized from tissues by macrophages, which migrate to regional lymph nodes; perivascular phagocytes take part in the absorption of MSCs from the bloodstream. MSCs locally administrated into tissues may spread into lungs and then throughout the body. The possibility of MSC detritus elimination through the pulmonary alveoli outside was noted, but contrary to the literature, the MSC elimination through the liver, kidneys and spleen was not found. The only side effect of MSCs that we have recorded is the progression of ascending urinary tract infection in rat kidneys after the injection of MSCs into the inguinal area, which is most likely associated with the immunomodulatory effect of cell therapy.
The quality of education, which is the main task of secondary education, depends on the functional state of the central nervous system, on the level of development of cognitive functions of the student’s body. The teenage period is characterized by the stress of the functional state of the body due to the restructuring of hormonal and nervous regulation mechanisms. The change and formation of the properties of nervous processes at this age leads to activation or, conversely, to a decrease in cognitive functions, to a change in behavioral and emotional-motivational systems of the brain. The purpose of this work is to study the features of nervous processes, the functional state of the central nervous system according to the parameters of sensorimotor reaction and the main properties of attention in adolescents, depending on gender, during the period of educational activity in the North. The object of the study was teenagers, students of grades 7-8 of secondary schools in Yakutsk, in the number of 58 people (30 girls, 28 boys), whose average age is 13.96 ± 0.11 years. To assess the functional state of the central nervous system and the characteristics of the properties of nervous processes, the method of simple visual-motor reaction (PMR) and choice reaction (RV) was used using the hardware and software complex “NS-Psychotest” (Ivanovo, Neurosoft). The main properties of attention (volume of attention, distribution and switchability of attention) were investigated using the technique of the red-black tables of Schulte-Platonov at the agro-industrial complex “NS-Psychotest” (LLC “Neurosoft”, Ivanovo, Russia).
The results of our research showed that more than half of the adolescents of all the studied groups have a low level of functional state, which indicates the presence of a process of inhibition in the central nervous system; a state of fatigue; a decrease in mental performance and cognitive activity. The presence of differences in gender identity was revealed. Thus, in adolescents, there are gender differences in all parameters of a simple visual-motor reaction, the predominance of inertia of nervous processes in girls and the predominance of imbalance of nervous processes in boys. The presence of significant gender differences is also noted in such properties of attention as the volume and distribution of attention.
Chronic liver disease is a worldwide health problem. A significant proportion of the manifestations and complications of chronic liver diseases is due to liver fibrosis and its subsequent transition to liver cirrhosis. The initial and the key link in the formation of fibrotic changes in the liver are liver sinusoidal endothelial cells (LSEC). In view of the unique structure and central position of the liver endothelial tissue in the pathogenesis of fibrosis, it seems relevant to present current data in the form of this review. LSECs are the only endothelial cells in the body that lack a basement membrane and contain transcellular pores called fenestrae. At the initial stages of the fibrogenesis process, LSECs change their phenotype: they lose fenestrae and develop a basement membrane, turning into a continuous endothelium. LSECs are involved in fibrosis through the secretion of angiocrine signals that act as paracrine factors that balance the liver’s response to injury towards fibrosis or regeneration. LSEC cells are very sensitive to the slightest changes in the microenvironment, with prolonged exposure they quickly change their phenotype, their numerous functions are disrupted, including vasodilator, anti-inflammatory, antithrombotic and antifibrotic, as well as the regulation of angiogenesis and regeneration, and prevention of HSC activation. Such changes in the phenotype are called endothelial dysfunction. Loss of fenestres (capillaryization) by LSEC cells is the initial event in liver fibrosis. It precedes HSC activation and promotes fibrosis and progression to cirrhosis. Fenestra maintains liver homeostasis, promotes efficient transport of lipoproteins, regulates liver regeneration and immune tolerance. LSEC fenestra are approximately 50-200 nm in diameter, and most of them are clustered into several dozen ultrastructures called sieve plates. Chronic liver injury leads to deep dedifferentiation of LSECs, which lose their vasoprotective properties and become vasoconstrictive, proinflammatory, and prothrombotic. Major molecular dysregulations seen in LSEC in chronic liver disease
include fenestra loss and basement membrane development that interfere with the exchange of molecules such as lipoproteins and oxygen with hepatocytes, promoting steatosis and parenchymal apoptosis; reduction of NO by suppression of KLF2 and endothelial NO synthase (eNOS) activity, together with an increase in ROS-mediated NO uptake, leading to activation of hepatic stellate cells and deposition of extracellular matrix; increased production of vasoconstrictors (such as endothelin 1 or thromboxane A2) and pro-inflammatory cytokines, further exacerbating sinusoidal constriction. These pathological changes lead to sinusoidal vasoconstriction, microvascular dysfunction, fibrosis, and ultimately portal hypertension. Thus, LSECs play complex interrelated roles in maintaining liver homeostasis and are involved as factors in inflammation and fibrogenesis in liver diseases. Their unique position, phenotype, and function make them attractive candidates for organ-specific therapies, and it is likely that more therapies targeting these cells will be tested in the future as novel therapies to reduce liver damage and inflammation, and to prevent or reversal of fibrogenesis.