Hypercoagulation syndrome is the expressed coagulopathy characterized by the increased readiness to thrombosis with clinical and laboratory evidence for a blood hypercoagulable state and activation of blood clotting factors, but without acute thrombosis. Hypercoagulation syndrome is associated with several pathological conditions (erythrocytosis, hyperthrombocytosis, lesions of the blood vessel wall due to trauma, inflammation, atherosclerosis, antiphospholipid syndrome, tumors, etc.). The management of hypercoagulation syndrome is specific in every case, but almost always requires the treatment of the essential disease, antiaggregation and anticoagulation therapy, often – plasmapheresis, fresh-frozen plasma transfusions, glucocorticoids. The lack both of correction of pathological states causing hypercoagulation syndrome, permanent physician care in chronic hypercoagulatijn syndrome and timely measures for its correction can lead to the development of acute thrombosis, infarction, stroke which pose the real danger for the life of the patient.

Aim of the study. To investigate two types of the bone marrow (BM) stromal precursor cells, mesenchymal stromal cells (MMSCs) and fibroblast colony-forming units (CFU-Fs), in patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL) and chronic myeloid leukemia (CML) before and after chemotherapy.

Material and methods. BM derived MMSCs and CFU-Fs withdrawn from 74 AML, ALL and CML patients before and after chemotherapy were studied.

Results. Concentration and culture characteristics of both types of precursors were shown to be altered in patients with acute leukemia and CML.

Aim of the study. To investigate the relevant expression level in multipotent mesenchymal stromal cells (MMCs) derived from the bone marrow (BM) of acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) patients before and over the course of chemotherapy.

Material and Methods. BM derived MMSCs from 33 AML patients and 21 ALL patients were studied before and during chemotherapy. Total RNA was extracted from the MMSCs and the cDNA was synthesized. Gene expression levels were quantified by real-time quantitative PCR (RT-qPCR) with the use of gene-specific primers.

Results. Before chemotherapy, the analysis of the gene expression of MMSCs from acute leukemia patients revealed a significant increase in the relative expression level (REL) of genes (IL-6, IL-8, IL-1b, CSF, JAG1, ICAM, VCAM) which regulate leukemic cell proliferation and migration. The REL of genes regulating MMSC proliferation and differentiation (IL-1R1, PDGERa, IGF, FGFR1, FGFR2, BGLAP) increased during chemotherapy. The alterations of bone marrow stroma were more pronounced in patients who didn’t achieve remission.

We have evaluated the dynamics of post-transplant recovery of CD4⁺CD45RA⁺CD31⁺ T cells and CD4⁺CD45RACD31⁺ T-cells in patients with lymphoproliferative diseases after high-dose chemotherapy with autologous stem cell transplantation (auto-HSCT). 87 patients were included in the study. The content of circulating CD4⁺СD31⁺ naïve and memory T-cells has been assessed with the use of flow cytometry before auto-HSCT, at the day of engraftment, and in 6 and 12 months. Relative amount of CD4+CD45RACD31+ T-cells in patients was elevated in comparison with healthy controls, restored rapidly following auto-HSCT and reached initially high level at the day of engraftment. Post-transplant mediastinal radiotherapy significantly reduced counts of CD4⁺CD45RA⁺CD31⁺ T-cells and extended recovery period compared to the non-irradiated patient level. Non-thymic tissue irradiation reduced this subset slightly and non-significantly. The study of the recovery of CD4⁺CD45RA⁺CD31⁺ T-cells by virtue of flow cytometry required an accurate gating strategy to exclude CD31⁺ T memory cells.

Analysis of the literature shows that there is no comprehensive description of the variability of TP53 gene in diffuse large B-cell lymphoma (DLBCL). The frequency, spectrum and functional significance of mutations in the TP53 gene were investigated at 74 DLBCL patients. The localization of mutations “hot spots” in the studied sample of patients with DLBCL was shown to be differed from the data presented in IARC TP53 mutation database. The occurrence of DLBCL with pathogenetic intron and synonymous replacements was revealed. The frequency of TP53 promoter methylation in the study group was 5.8%. The loss of heterozygosity in the gene was observed in 25% of cases and only in a subset of patients with modified (mutation or promoter methylation) status of the TP53 gene. The results indicate to the selection of functionally significant mutations in the TP53 DNA-binding region in DLBCL. The lack of function of the gene in DLBCL was shown to be possibly formed on the two-hit principle.

We investigated the association between Arg399Gln polymorphism in DNA repair gene XRCC1 and chronic myeloproliferative diseases. 79 patients with chronic myeloid leukemia (CML), 91 patient with polycythemia vera (PV), 132 patients with essential thrombocythemia (ET). 50 patients with myelofibrosis and 114 controls were included in the study. We genotyped the polymorphism in XRCC1 gene by using polymerase chain reaction in real-time with TaqMan assay. The detection and quantification of the JAK2 gene V617F mutation allele burden was carried out by means of “Pyromark q24” pyrosequencing. The presence of at least one XRCC1 399Gln allele was found to be significantly different in patients with CML (OR 1.53; 95% CI 0.67–3.51) and ET (OR 1.31; 95% CI 0.61–2.78) in comparison with controls. The presence of XRCC1 399Gln allele was associated with the resistance to imatinib. We found no interactions between the XRCC1 genotype and the level JAK2 allelic burden. These data suggest about a significance of the XRCC1gene product in the control of precursor cells of the myeloid differentiation in CML and ET cells. Testing Arg399Gln polymorphism in XRCC1 gene may be useful for the assessment of the prognosis and treatment efficacy.

Disturbances of microcirculation play a significant role in the development and progression of acute and chronic cerebrovascular diseases (CVD). One of the reasons of prothrombogenic state of the endothelium is the increase of the number of blood corpuscles leading to myeloproliferative disorders (non-Ph) (MPD). Headache was one of the most prominent clinical symptoms of CVD. It is often preceded the hematological diagnosis. Often headache is associated with focal vascular lesions on the magnetic resonance imaging. Acute cerebral events occurring as a result of thrombotic occlusion of the one or several carotid arteries tend to exhibit a fluctuating clinical course – the latter being closely linked to the dynamics of thrombus progression. Our data suggest that the decrease in vascular wall elasticity and its athrombogenic properties may lead to a pathologic change in endothelial function – consequently leading to stroke. An important clinical feature of the mentioned CVD is the young age of patients – this underlines the necessity of hematological tests in cases with cryptogenic stroke.

The purpose of this study is the investigation of the effectiveness of the repeated administration of vitamin K₁ to preterm infants. 88 preterm infants were administered vitamin K₁ in first hours of life at a dose of 1 mg intramuscularly, then repeatedly at 7^th, 14^th, 21^th day after birth. Infants in the control group received vitamin K₁ in a dose of 1 mg once at birth. The effectiveness of repeated administration of vitamin K₁ was evaluated by the results of clinical, laboratory and instrumental data on the 21^th day of life. The results showed that repeated administration of vitamin K₁ reduces the length of stay of children in the ICU (15 ± 5.3 days in the study group, 18 ± 6 days in the control group), decreases of activated partial thromboplastin time as compared to the control group (53 to 29; p< 0.005), increases of prothrombin index (from 59.6 ± 7.2% to 86.7 ± 5%; p< 0.005), decreases of the number of children with retinopathy (6.5 ± 3.6% in the study group and 23.8 ± 6.6%; in the control (p< 0.05).

Modern international standards recommend to each laboratory to develop or to confirm the reference intervals for laboratory parameters. The purpose of the study was to establish reference intervals for the quantity of white blood cell and differential white blood cell count in the adult population of the Astrakhan region at the use of the automatic hematology analyzer Sysmex XT 2000i. In the group of 375 healthy people there were determined the white blood cell and differential white blood cell count by the flow cytometry and the cytofluorometry. The reference intervals for the white blood cell and differential white blood cell count didn’t depend on a gender.

Acute intermittent porphyria (AIP) is caused by the partial deficiency of porphobilinogen deaminase (PBGD), one of the enzymes of the heme biosynthetic pathway. The penetrance of the mutant gene PBGD is not high and averages of 10–15%. Any additional genetic factors, the combination of which with the mutant allele of the PBGD gene leads to the clinical manifestation of AIP is not currently known. The eventual associations of allelic variants of genes of the Phase 1: CYP1A1 (A2455G), CYP2E1 (G1259C) and four genes of the phase 2: NAT2 (C481T, G590A G857A), mEPHX1: Tyr113His – 3rd exon, His139Arg – 4th exon, GSTM1 (Del), GSTT1 (Del) with clinical presentation of AIP were investigated. Homozygous carriership of the “fast” allele of the acetyltransferase gene (genotype N/N) was established to be associated with a latent course of the disease. The combination of “functionally weakened” genotypes of glutathione transferase (class t~) and class M (GSTT10/0, GSTM10/0) can be considered as an unfavorable genetic factor related with the clinical presentation of AIP. Comparative analysis of the frequencies of genotypes and polymorphic alleles of genes CYP1A1, CYP2E1 and mEPHX1 revealed no statistically significant differences between the samples of patients with AIP and asymptomatic carriers of the disease.

Iron is an essential element of the cell activity. The most important role of iron is determined by the functions of proteins that contain this metal: hemoglobin and myoglobin that execute the transport and storage of oxygen; enzymes involved in the processes of biological oxidation (cytochrome p450), various peroxidases and catalase supporting redox balance. Iron metabolism being unique process is regulated by a number of proteins, providing a narrow safe range of iron content in the cells. 25-amino acid protein hepcidin in the past 10 years was considered to be a key regulator of iron metabolism. Hepcidin controls main streams of the iron distribution: the absorption of nutritional iron in the intestine, utilization of its macrophages phagocyting old red blood cells, and iron mobilization from hepatocytes. In the literature there is occurred sometimes the term “erythroid regulator of iron metabolism”, however, for the long time the desired protein remained elusive. Proposed erythroid regulator should ensure the delivery of iron to the bone marrow due to suppression of blood expression of hepcidin, thereby increasing the absorption of iron from enterocytes and stimulating the release of its stock. In recent studies there were proved properties of myonectin as a regulator of erythroid iron. Subsequently, this myokine was renamed as erythroferrone. As distinct from the adaptive role erythroferrone may contribute to the iron overload in patients with severe hereditary anemias and in patients receiving frequent blood transfusions. In this paper, we present a brief discussion of functions of erythroferrones, as well as the transferrin receptor 2, and their role in iron metabolism.

In the article there is described the course of life and professional career of the famous Professor Nikolay Konstantinovich Goryaev. One of the main achievements of the scientist was the creation of “Goryaev’s camera”, which was widely used for many years for counting of blood cells.