LACTOSE TOLERANCE AND RISK OF MULTIFACTORIAL DISEASES ON THE EXAMPLE OF GASTROINTESTINAL TRACT AND BONE TISSUEPATHOLOGIES.

Metabolism changes play a key role in many mammalian diseases such as decreasing bone mineral density, osteoporosis, digestive disorders. Lactose intolerance is found in 75% of the in human world's population. The aim of this study was evaluation of the genetic aspects of lactase deficiency in different ethnic groups and its relation with pathologies of bone tissue and gastrointestinal tract. The world data of lactose tolerance, hip fracture incidence, digestive diseases were derived from websites the International Osteoporosis Foundation and World Health Organization. Statistical analysis was carried out by Shapiro-Wilk test, Spearman correlation. An analysis of the world population showed that the lactose tolerance parameters have a statistically significant positive correlation with the hip fractures frequency (r=0.656) and a negative correlation with digestion diseases mortality (r=-0.577). An important factor in the pathologies prevention is the diet correction taking into account the phenotype and genotype of lactose tolerance.

STUDY OF BONE TISSUE REPARATION AFTER A FEMUR FRACTURE DEPENDING ON THE CORRECTION OF ARTERIAL HYPERTENSION IN MODEL OBJECT RATTUS NORVEGICUS (RAT GRAY).

The processes of bone remodeling and regulation of blood pressure are caused by common genetic determinants underlying the development of these diseases. To solve practical medical problems, it seems relevant to carry out the correction and treatment of syntropic diseases at the same time with the aim of achieving the maximum positive effect. The most serious complication of osteoporosis is bone fractures, especially fractures of the proximal femur, which are a serious medical and social problem. The aim of our work was to evaluate the repair of bone tissue after fractures of the proximal femur with subsequent intramedullary osteosynthesis on the background of arterial hypertension and its correction. A model object was used in the work - gray rats, lines Wistar and SHR, which were operated on. For the animals of one of the groups with genetically determined arterial hypertension, correction of the above-mentioned pathology in the form of enalapril monotherapy in the postoperative period was applied. In this group, the picture of the dynamics of blood pressure indices corresponded to the cumulative effect of enalapril - after three weeks of taking the drug, the rats' systolic blood pressure indices corresponded to those of normotensive animals, and the indicators of adhesion of the fracture zone were higher than in the group of rats with arterial hypertension, which was not corrected. Adequate correction of the level of blood pressure in the postoperative period favorably affects the reparative capabilities of the bone, while at the same time increasing the chances of positive results of surgical treatment of patients.

PHARMACOGENETIC EFFECTS OF METHOTREXATE (MTX) IN UKRAINIAN PATIENTS DEPENDING ON THE MTHFR GENOTYPES (CLINICAL CASES).

The aim of the study is an evaluation the influence of MTHFR gene polymorphisms in the response to MTX in Ukrainian patients. The study group included unrelated Ukrainian patients with dermatoses - psoriasis vulgaris, psoriasis arthritis, psoriasis erythrodermic, atopic dermatitis, scleroderma, eczema, flat lichen and ectopic pregnancy. The materials for this study are based on the accumulated data from clinical observations of different reactions of patients with dermatoses and ectopic pregnancies when using methotrexate as the basic therapy according protocols. The analysis of the results obtained in the retrospective study indicated that MTX-treated patients had shown a different parameters depending on genotypes or haplotypes of MTHFR gene. After the treatment in the group of patients, carriers of CC genotype on C677T polymorphism of MTHFR gene, who received methotrexate, the normal levels of transaminases were observed. Probably, patients with the CCAA genotype are the fast metabolizers and could take methotrexate and other medications without complications for a long time. In the presented study, alpha-amylase levels in patients with CC and CT genotypes of C677T MTHFR gene before MTX treatment were normal or lower than normal. We found out that the level of amylase was significantly, almost 2 times, increased after treatment with MTX in patients with CCAA haplotype of MTHFR gene. Thus, the study of the association of polymorphisms of the MTHFR gene with a response to MTX has shown that the decrease in the therapeutic effect and the appearance of side effects in different genotypes is in the following relationship: CCAA

[ANALYSIS OF ONE-CARBON METABOLISM GENES AND EPIDERMAL DIFFERENTIATION COMPLEX IN PATIENTS WITH ICHTHYOSIS VULGARIS].

The aim of the study was to evaluate the effects of allelic polymorphism of the FLG and MTHFR genes and their associations in gynecological patients with ichthyosis vulgaris. Gynecological disorders are observed in presence of some forms of ichtyosis. From the prospective of improving nation's healthcare, the greatest attention is drawn to reproductive disorders. Based on this, the research was also tasked with studying of the genetic nature of gynecological diseases, as well as the influence of geographical latitude on the frequencies of mutagenic alleles of the FLG gene and heterogeneous carriers of these mutations. The collection of clinical-gynecological history was carried out by the method of single registration of the proband on the basis of the Regional Clinical Dermatological and Venereological Health Center No. 1 and the Dermatovenerological Health Centers of the Kharkiv Region. The diagnosis and form of dermatosis is established on the basis of the analysis of clinical and gynecological data and the results of laboratory tests in accordance with ICD-10: ichthyosis vulgaris (Q 80.1.0, OMIM 146700). The data on 18 women and 20 men from 3 families, aged 26 to 76 years old, suffering from ichthyosis, were analyzed. As a result of the study, a direct correlation was determined between the latitude and frequencies of mutant alleles of the FLG gene, as well as between the geographical latitude and frequency of heterozygous carriers of these mutations. The frequencies of the T allele and the CT genotype according to polymorphic variant C677T of the MTHFR gene demonstrate feedback with the latitude indicators. The frequency distributions of the 2282del4 allele and the CT genotype, the N/2282del4 and CT genotypes, the 2282del4 and T alleles, the N/2282del4 genotype and the T allele have opposite latitudinal zonation. The established connections made it possible to predict the development of gynecological pathologies in women with ichthyosis vulgaris. The prevalence of endometriosis and endometrial cancer in women with ichthyosis vulgaris in the Kharkiv region was 33.3%, while the average for the female population in the region was 0.29-0.35%. The number of children born to women with ichthyosis vulgaris did not differ from the regional index.