The review addresses issues related to genetic predisposition and resistance to infectious diseases. Genetic factors largely determine the susceptibility of the body to various diseases, including infectious ones. A genetic predisposition to tuberculosis, salmonellosis, viral hepatitis, tick-borne encephalitis, Lyme disease, HIV and others is shown. Knowledge of molecular genetic biomarkers is necessary for identifying risk groups, conducting predictive measures, in particular vaccination. The main influence is given to the genes of the main histocompatibility complex; the role of mitochondrial DNA in susceptibility to HIV infection is shown.

A large-scale study of DNA sequencing databases (Jorgenson E., et al., 2018) to search for hereditary susceptibility to early erectile dysfunction revealed an association with the rs17185536-T polymorphism regulating the expression of topologically associating domain, among which is the SIM1 gene, which plays an important role in maintaining mass body and sexual function. The proximity of the rs17185536 locus to the CCNC (cyclin C), PRDM13 (histone methyltransferase) and USP45 (ubiquitin-specific peptidase 45) genes suggests the possible involvement of this polymorphism in the pathogenesis and other diseases associated with impairments of these genes.

Materials and methods. The study included a total of 280 people: 81 of which were healthy donors, 116 pregnant women, 25 patients with polycythemia vera, 29 with essential thrombocythemia, and 29 with primary myelofibrosis.

Results. Using the original method of determining the polymorphism rs17185536, the allele of specific PCR-RT showed that the prevalence of the T allele among all examined patients was 19 %, and variants of the genotypes: C/C with 73 %, C/T with 23 % and T/T with 4 %, which corresponds to Winkler e. a. data. The absence of statistically significant differences in the frequency of occurrence of this polymorphism in the pathology of pregnancy and in chronic myeloproliferative diseases indicates a low probability of involvement of rs17185536-T in the pathogenesis of these diseases. In the group of pregnant women, there is an association of the rs17185536-T allele with obesity, uterine fibroids and the development of preeclampsia.

Conclusions. For the first time, using the original method of analysis, it was confirmed that the Russian population has a comparable prevalence of the gene of hereditary susceptibility to impotence. Despite the topographic proximity of the rs17185536 locus to the genes regulating the repair and functioning of DNA, its polymorphisms do not affect the risk of chronic myeloproliferative diseases developing. The association of the rs17185536-T allele with the risk of developing a pregnancy pathology requires further study.

The purpose of this work was to identify the characteristics of hematopoiesis in newborns of 1–7th days of life with signs of morphofunctional immaturity. Three groups of newborns were formed: 1) healthy full-term babies (control); 2) full-term, but low-weight for gestational age children; 3) premature babies (gestational age 34–36 weeks) with signs of malnutrition. On the Sysmex XN analyzer, traditional hemogram indicators were analyzed, including reticulocyte parameters, as well as a calculated index —  an indicator of erythropoiesis (EE) effectiveness. A total of 714 blood samples were examined. The following statistical characteristics of the indicators were analyzed: mean value (M), mean standard square deviation (Sd), error of the mean value (St er). The statistical significance of intergroup differences was established on the basis of the Money-Whitney test (p ≤ 0.05). Comparative intergroup analysis showed no statistically significant differences (p ≥ 0.05) between the baseline red blood values (hemoglobin, erythrocytes, hematocrit, etc.) in the control newborns and children with signs of morphofunctional immaturity. According to the data obtained in newborns in the full-term, but low-weight for gestational age (group 2), there was a tendency to a decrease in the content of reticulocytes and their immature fractions, an indicator of the erythropoiesis efficiency, an index of reticulocyte production. Premature infants with signs of malnutrition (group 3) differed from the control group in a statistically significant (p ≤ 0.05) increase in the content of reticulocytes (by 2–3 days), an index of their production (by 2 days), and also an indicator of erythropoiesis (on 2–3 days). At the same time, a statistically significant decrease in the content of leukocytes (1st and 4th days), neutrophils (4th day) and lymphocytes (3rd day) was registered in premature babies.

Diagnosis of hereditary spherocytosis, as the most common form of membranopathy, is improved, thanks to advances in biotechnology and the presence of a large number of modern automatic analyzers. All this leads to a reduction in the number of patients with undiagnosed hereditary spherocytosis and a decrease in the incidence of complications. However, despite the improvement of various methods of evaluation of red blood cells, some difficulties in the diagnosis of hereditary spherocytosis remain. In this study, the authors developed an algorithm for the laboratory diagnosis of anemias microperimetry that will allow patients with high probability of hereditary spherocytosis differential diagnosis with other types of hemolytic anemia.

The Fas/FasL system is known to play a central role in maintaining peripheral self-tolerance and tissue homeostasis of the organism [12, 18]. Fas-mediated apoptosis is induced by binding of the Fas(CD 95/APO-l/TNFRSF6)-receptor to the Fas(CD 95L/CD 178/TNFSF6)-ligand on the respective cells [24]. Triggering of the expression of cell surface Fas receptors (Fas) regulates the elimination of autoreactive T- and B-lymphocytes by apoptosis. It is known that impaired activation of Fas-mediated apoptosis in individual subpopulations of T-cells plays an important role in the pathogenesis of type 1 diabetes mellitus (T1DM). The main key point in the development of T1DM is resistance to apoptosis of activated autoreactive T-lymphocytes, which migrate from the bloodstream to the pancreas and take an active part in β-cells destruction. Аt the present time, most of the results on the study of Fas-mediated apoptosis in T1DM were obtained in experiments in vitro [11, 18, 31]. There is no doubt that in vivo autoimmune pathological changes are more profound, and extrapolation of the results obtained in the experiment to the organism is not always valid. Тhereby, it seems relevant to evaluate the efficiency of Fas-mediated apoptosis of T-lymphocytes in the blood of patients with T1DM, depending on the compensation phase and the duration of the disease. In the article, the markers of Fas-mediated apoptosis of peripheral blood lymphocytes in patients with type 1 diabetes mellitus and individuals with high risk of T1DM development have been studied. The surface expression of Fas in individual subpopulations of T-lymphocytes was еvaluated. The inhibition of Fas-mediated apoptosis of autoreactive CD 95⁺-cells by soluble Fas-receptor was detected in patients with decompensation of T1DM. In compensation phase of T1DM Fas-mediated apoptosis of lymphocyte was successfully realized via the soluble Fas ligand (sFasL). The increased level of soluble FasL was revealed in compensation phase of T1DM and in individuals with high risk of T1DM development. This probably has a protective value, since the soluble FasL is involved in the removal of the peripheral blood autoreactive CD 95⁺-cells.

Objective. To determine the information content of the cytokine profile (IL-1β, IL-2 and IL-6) in predicting complications in patients with myocardial infarction (MI) against the background of chronic obstructive pulmonary disease (COPD).

Materials and methods. In 85 people were examined: 28 patients with myocardial infarction, 37 patients with comorbid pathology (MI + COPD) and 20 somatically healthy volunteers as a control group. Determination of IL-1β, IL-2 and IL-6 levels was basing on enzyme immunoassay.

Results. When assessing the cytokine profile in patients with MI and MI against the background of COPD, the most pronounced differences between groups of patients were observed in the levels of IL-6. Analyzing the association of the level of IL-6 with the presence of early complications of MI, it was found that the level of IL-6 in patients with complicated MI was significantly higher than in patients with uncomplicated course. The highest level of IL-6 was recorded in the subgroup of patients with complicated myocardial infarction during COPD. Studying the levels of IL-6 depending on the type of complications of myocardial infarction showed that the highest values of IL-6 were recorded in the group of comorbid patients with cardiogenic shock and pulmonary edema.

Conclusion. When determining the cytokine status in patients with myocardial infarction on the background of COPD, the level of IL-6 should be considered as the main indicator. This cytokine can be considered a marker of left ventricular that developed in the acute period in patients with myocardial infarction on the background of COPD.

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by pathological activation of the innate and acquired immune response, the formation of antinuclear antibodies (ANA), and dysregulation of cytokine production. Objective: to study the relationship of ANA and cytokine profiles in patients with SLE using multiplex immune analysis (MIA) of these biomarkers. We examined 94 patients with SLE (SLICC diagnosis criteria, 2012) and 28 healthy donors. Profiles of ANA and cytokines in blood serum were determined on the basis of suspension microarray technology xMAP. In SLE, antibodies to dsDNA (52.1 %), nucleosomes (54.3 %) and SS-A/Ro (37.2 %), less often to Sm (28.7 %), RibP (14, 9 %), RNP-70 (13.8 %) and SS-B/La (11.7 %). Disease activity (SLEDAI-2K) positively correlated with the concentration of antibodies to dsDNA (r = 0.6), nucleosomes (r = 0.7), Sm (r = 0.4) and RibP (r = 0.3) (p < 0.05). In the sera of patients with SLE, an increase in the levels of IL-4, -6, -8, -12, GM-CSF, MCP-1, MIP-1β, RANTES and a decrease in the content of IL-1β, IL-1ra, IL-2, IL-9, IL-10, eotaxin, G-CSF, IFN-γ, MIP-1α, TNF-α, FGF, PDGF-BB, VEGF compared to donors (p < 0.05). An increase in the concentration of IP-10 and MCP-1 was associated with high disease activity (r = 0.4; r = 0.3; p < 0.05), hyperproduction of antibodies to dsDNA (r = 0.3), nucleosomes (r = 0.5), Sm (r = 0.5), SS-B/La (r = 0.3), RibP (r = 0.4) (p < 0.05) and antibodies to Sm (r = 0.3), SS-B/La (r = 0.3), RibP (r = 0.3) (p < 0.05), respectively.

Conclusion: the formation of ANA and high activity of SLE are associated with the overexpression of chemokines IP-10 and MCP-1 induced by IFN. 

A decrease in glomerular filtration rate (GFR) is an earlier sign of detection of chronic kidney diseases compared to an increase in urea and blood creatinine concentrations. It is impossible to measure the glomerular filtration rate directly. GFR is determined by calculating the concentration of blood creatinine or by measuring the clearance of endogenous creatinine. The work shows the influence of methods for the determination of creatinine on the results of the calculation of glomerular filtration rate and terms for the correct choice of method of measuring glomerular filtration rate in different clinical situations associated with chronic kidney disease.

The brief review, dedicated to Septic Acute Injury (S-AKI) — the syndrome simultaneously corresponding to criteria of sepsis and acute kidney Injury. Sepsis or AKI are diagnosed 30–50 % of critical patients. Sepsis is promoting the developing of AKI and AKI is promoting the development of sepsis. Morbidity and lethality in S-AKI is higher than that is sepsis and in AKI separately. The main mechanisms of the development of: a) AKI in sepsis — the toxic septic blood containing huge amounts of proinflammatory factors damage the renal tubules resulting tubular disfunction; b) sepsis in AKI — uremia is damaging distal organs and functions of immune systems which provoke sepsis development. For early diagnostics of S-AKI in patients admitting in critical care units the simultaneous measurements and monitoring of sepsis and kidney biomarkers are to be made. The problems of such measurements is that AKI decreases the clearance of septic markers and their levels are increasing in noninfectious conditions. From the other hand in septic conditions inflammation can increase the levels of renal markers independently of renal pathologies. In general in sepsis, AKI and in S-AKI the increased levels of sepsis markers reflect simultaneously severity of infectious inflammation and of renal disfunction, and kidney markers reflect simultaneously severity of renal disfunction and of infectious inflammation. The correction of cut-off values of septic markers used for S-AKI diagnostics must be based on the degree of severity of renal disfunction in critical patients.

The object of this paper is the comparative analysis of the results of determination of the D-dimer level with the new home-produced reagent on the basis of original monoclonal antibodies with the results of the widespread diagnostic analogues. The research study included blood samples of 80 patients. 22 of these patients (27.5 %) were diagnosed venous thrombosises of the lower limbs, 28 patients (35.0 %) did not have any thrombotic complications (control group). Besides, the research included 30 pregnant women (37.5 %) with different duration of gestation. Despite some distinctions when determining the D-dimer level, contemporary quantitative methods of the D-dimer level study demonstrate comparability of the research results which is documented by the high rates of correlation. The new diagnostic kit Tech-D-dimer-auto, based on the use of original monoclonal antibodies, demonstrates good comparability with analogues and is suitable for detection of thrombosis.

The article identifies the sources and presents a calculation of the real and potential direct economic effect from the introduction of a stable isotope ¹³C-urease breath test for Helicobacter pylori, which may amount to more than 1 billion rubles per year, into Russian healthcare.

Purpose. The study of protein-producing and lipid-releasing ability of neutrophils and its clinical significance in patients with IHD.

Materials and methods. 25 patients with arterial hypertension without clinical and ultrasound manifestations of atherosclerosis were examined; 47 patients with coronary artery disease with stable angina, as well as 19 patients with unstable primary angina. The comparison group — 33 healthy persons. In the serum, enzyme-linked immunosorbent assay was used to evaluate the concentration of C-reactive protein (CRP), lipoprotein a (LPa), VII coagulation factor VII (VIIf), defensins-alpha (1–3), interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor alpha (TNF-alpha). Leukocytes, predominantly represented by neutrophils, which were further cultivated, were excreted from peripheral blood in the presence of dextrans; the levels of CRP, LPa, defensins-alpha (1–3), VIIf, and lipid-releasing ability of leukocytes (LRAL) were assessed according to the method of A. V. Tuev and V. Yu. Mishlanov. An angiographic study, duplex scanning arteries, and echocardiography were performed.

Results. It has been established that in patients at the stage of preclinical atherosclerotic lesion, the ability of leukocytes to form protein-lipid complexes (PLC), marked by LRAL, practically does not differ from healthy individuals, but already at this stage of atherogenesis an increase in their ability to produce antimicrobial peptides — defensins-alpha (1–3). In patients with coronary artery disease with stable angina pectoris, an increase in leukocyte production of a wide range of proteins — defensins-alpha (1–3), VIIf, LPA and CRP in combination with signs of a systemic inflammatory reaction, marked by high concentrations of CRP, interleukin-6 and tumor necrosis factor alpha in serum, was noticed. At this stage of atherogenesis, the value of LRAL is significantly different from the values of healthy individuals. It is shown that the higher the LRAL value, the higher the functional class of chronic heart failure in these patients (R = 0.4; p = 0.02). In patients with coronary artery disease with primary unstable angina, the maximum LRAL value was detected, and in patients with ultrasound signs of plaque instability, high concentrations of CRP in neutrophilic supernatants were found. Correlation analysis revealed that, in patients with coronary artery disease, the average percentage of coronary artery stenosis, according to angiography, is directly related to the LRAL value (R = 0.7; p = 0.03) and the serum concentration of TNF-alpha (R = 0.5; p = 0.03), and the number of clinically significant stenoses — with the magnitude of LRAL (R = 0.4; p = 0.04) and the concentration in supernatants VIIf (R = 0.5; p = 0.04).

Conclusion. The LRAL value, CRP and defensin-alpha content in leukocyte supernatants in IHD patients are interconnected with the severity and activity of atherosclerotic lesion of arteries, which is confirmed by the results of examination of patients at the stage of preclinical, clinically manifest stable and unstable atherosclerotic lesion.

We would like to present the case the manifestation of acute lymphoblastic leukemia in 2-year-old and 11-month child was treated with antiviral therapy during several month. We retrospectively analyzed hemogram’s values of the child and the importance of correct and timely interpretation of complete blood count is once again evidently demonstrated.

Among all hormonal studies, thyroid-stimulating hormone (TSH) remains the most often deviating from reference intervals (RI), despite the fact that the analytical characteristics of methods for assessing its concentration are improved from year to year, and the functional sensitivity of each subsequent generation is improved compared to the previous one. Currently, there is no consensus in the world community on the clinically justified limit of the upper TSH value for healthy people and, in fact, the current RI combines two ranges: the zone of almost ‘complete well-being’ (0.4–2.5 μMU/ml) and the one of latent pathology and/or ‘highly normal’ values (2.5–4.0 [5.0] μIU/ml). Considering the fact that each laboratory should determine the RI for measured analytes on the basis of the characteristics of the examined population, the characteristics of the used analytical systems, the achievement of the necessary diagnostic efficiency of the technique, its own practical and economic possibilities, the aim of this work was to retrospectively determine the TSH RI for the Russian population based on the analysis of 400 394 orders, including TSH, made during one year of observation. Consistent complication of exclusion criteria and calculation algorithms allowed to conditionally distinguish seven analyzed groups and stages of determining RI, based on the results of each of which intermediate and final results of the study were determined.

The review is devoted to the possibility of non-invasive prenatal determination of the RH-factor of the fetus in early pregnancy based on the analysis of fetal DNA circulating in the peripheral blood of a pregnant woman. Methodical approaches to the isolation and analysis of extracellular fetal DNA are considered. The assessment of medical and economic efficiency of prenatal noninvasive screening of RH-factor of the fetus in RH-negative pregnant women is given. The possibilities, limitations and prospects of using molecular genetic non-invasive laboratory methods to determine the RH-factor of the fetus are discussed.