Vol 17, No 2 (2019)

Schizophrenia is a severe psychiatric disorder with etiology not clearly determined yet. Scientists associate its development with various factors including excessive expression of some genes and unstable social environment. The World Health Organization estimates the prevalence of schizophrenic spectrum disorders as 21 million people worldwide. Moreover, some researchers note that such symptoms as paranoid thinking and hallucinations in a mild form can occur in 5-8% of the healthy population. This fact complicates the process of making the diagnosis. Laboratory tests or imaging methods that could accurately determine the presence of the disorder are yet to be developed as of today. In addition, the disorder can manifest in different ways which makes it difficult to assess the diagnosis reliability and prognosis. The dopamine hypothesis of schizophrenia was very popular previously, however, now it is gradually receding into the past giving the way to new, more progressive biopsychosocial and diathesis-stress hypotheses. In this article, the main factors that influence the schizophrenia development are considered. A better understanding of the disease pathogenesis may allow developing better diagnosis methods and more effective therapeutic approaches.

The aim of the study was to investigate the expression of the MMP-1 gene in patients with a diagnosis of localized scleroderma. Methods. The study included 12 patients with an established diagnosis of localized scleroderma. The material of the study consisted of biopsies from the affected and uninfected areas of the skin. As a control in the work, biopsies of the same patients from unaffected areas of the skin were used. The analysis was carried out by real-time PCR. The statistical processing of the results was carried out by the 2-ΔΔCt method. Results. The values of the relative expression levels of the gene were obtained in all patients. Individual analysis of each patient showed the expression level of the MMP-1 gene in scleroderma affected skin to be lowered comparatively with the visually unaffected skin (control) in the range from 4.2 times to 20.8 times. The average value of the change in the expression level of the gene was reduced by 7.6±2.6 times. Patients were divided into two groups - with a limited plaque form and a common plaque form of scleroderma. In patients with a limited form of the disease, expression of the MMP-1 gene was shown to be significantly reduced by 5.3 times, and in patients with a common form of the disease it was reduced by 11-fold times. Conclusion. A quantitative measurement of the expression of the metalloproteinase-1 gene (MMP-1) by PCR-RT was performed. Experimentally there was showed a decrease in gene expression in scleroderma affected skin compared to unaffected skin.

Background. Genotyping of the tumor samples is necessary for a personalized approach in the treatment of patients with malignancies. The identification of somatic mutations in EGFR and KRAS genes can help to predict the course of the disease and to individualize the therapy. One of the methods for detecting somatic point mutations in EGFR and KRAS genes is the multi-target single-base elongation (MSE). Objective. To optimize MSE for the detecting clinically significant aberrations in the EGFR and KRAS genes in the tumor samples. Material and methods. DNA was isolated from 31 samples of non-small cell lung cancer, 9 of which were formalin-fixed and paraffin embedded (FFPE). Laboratory characteristics of the MSE were compared with such one of real-time PCR, digital PCR, and Sanger sequencing. 44 Results. Protocol for verification the aberrations in the EGFR and KRAS genes has been created. The sensitivity of MSE was determined (48 copies/ßl of the mutant DNA). The laboratory characteristics of the method were shown to be comparable with such one of real-time PCR. MSE is able to detect aberrations in FFPE tissue samples. MSE can detect more point mutations in comparison with Sanger sequencing: 26 vs 3%, respectively. Conclusion. MSE is a highly sensitive and relatively rapid multiparametric method of genotyping a tumor tissue.

Introduction. The widespread cellular technologies will sooner or later lead inevitably to the introduction of multipotent mesenchymal stromal cells (MMSC) or their exosomes to patients who have implanted artificial materials in their organism. The engraftment of foreign bodies is accompanied first by the acute and then chronic inflammation, very often acquiring a granulomatous character. A decrease in the activity of the inflammatory response can theoretically improve the results of implantation. Aim. To study the possibility of using autologous MMSC of bone marrow origin (AMMSCBMO) for the influence on the integration process of a silicone implant in the experiment. Methods. The condition of the capsule and tissues around the implanted silicone with adsorbed AMMSCBMO with a transfected GFP-gene and membranes stained by Vybrant® CM Dil was studied by methods of light microscopy with using luminescence. Results. When studying the thickness and vascularization of a capsule formed from dense fibrous connective tissue to delimiting the silicone implanted in the organism, no significant differences were found related to the adsorption of AMMSCBMO on the polymer. AMMSCBMO also do not affect the constriction processes of the capsule around the silicone and its fragmentation. The thickness of the loose fibrous connective tissue around the encapsulated silicone with adsorbed AMMSCBMO less; along with this the capsule contains more blood vessels, compared with the condition after the introduction of the same foreign body, but without the use of cellular technologies. Conclusion. A smaller volume of loose fibrous connective tissue around the implanted silicone with AMMSCBMO indicates a decrease in the activity of the inflammatory response as a result of the use of cellular technologies, more rapid cleansing of the postoperative wound from debris, the success of reparative processes and the creation of conditions for the integration of a foreign body into the organism. It is likely all found effects associated with the presence of AMMSCBMO on silicone after its implantation to be caused not by AMMSCBMO themselves, but by their detritus, which in some cases may have a similar immunomodulatory effect with AMMSCBMO themselves or even exceed it.