FEATURES OF GILBERT'S SYNDROME IN PATIENTS WITH DIFFERENT GENOTYPES UGT1AI.

The aim; to evaluate the clinical manifestations and data of instrumental methods in patients with Gilbert's syndrome and different genotype UGT1A1. MATERIALS AND METHODS: Clinical manifestations and results of instrumental methods were studies in 104 patients with Gilbert's syndrome (UGIlAl gene mutation rs8175347), including 75 with the homozygous variant (genotype 7TA*7TA) and 29 - with heterozygous variant (genotypes 6TA*7TA or 6TA*STA). RESULTS: The most frequent clinical manifestation was asthenovegetative syndrome. The promoter of the appearance/intensification ofjaundice were physical activity, stress and viral infections. Homozygotes exhibit an earlier manifestation of the disease, higher rates of bilirubin (sometimes not only due to deconjugating), a greater variety of stigmas undifferentiated dysplasia of connective tissue, more frequent detection of biliary sludge or gallstones. The clinical observation of a family case of Gilbert's syndrome where the mother is a homozygote, and the son - heterozygotes on UGT1A1 mutation is presented, which shows the above differences associated with genotype. CONCLUSION: Patients with asthenic constitution and the stigma dysplasia of connective tissue have to be examined by the presence of mutations rs8175347 gene UGT1A1. The carrier not only homozygous but with the heterozygous variant mutations may require changes in the interpretation of symptoms, lifestyle, medication, etc.

[VISCOELASTISITY AND ELECTRICAL PARAMETERS OF ERYTHROCYTES IN GILBERT SYNDROME].

Results of viscoelastic and electrical properties of erythrocytes study in patients with genetically confirmed Gilbert's syndrome (n = 81) are presented. Dielectrophoresis of erythrocytes in a nonuniform an alterning electric field was performed in81 patients with Gilbert's syndrome and in 20 persons of the comparison group without of the pathology identified by thelaboratory and instrumental examination. The significant differences in viscoelasticity properties of erythrocytes in Gilbert'ssyndrome were obtained. The amplitude of the deformation, the speed of movement to the electrodes and the polarizability on electric field's of all frequencies were significantly lower, but generalized rigidity index, viscosity, index of aggregationand degradation on electric field's of all frequencies were higher than in the comparison group. A number of electricalparameters (conductivity, the capacity of the cells and the relative polarizability) were also higher than in the comparisongroup. Some differences in the parameters of erythrocytes were obtained from homozygous and heterozygous carriers of A(TA), TAA of gene UGT1A1 promotor.

[MODERN METHODS OF PHYSICAL-CHEMICAL RESEARCH IN GASTROENTEROLOGY PRACTICE: THE EXPERIENCE OF INTERACTION].

UNLABELLED: The aim of this work was to assess the potential of some physical and chemical methods for studying erythrocytes and blood serum in gastroenterological practice by the example of colorectal cancer (CC). MATERIALS AND METHODS: A total of 26 persons with various stages of colorectal cancer and 16 healthy (control group) were examined. Parameters of erythrocytes and blood serum were investigated by light microscopy, dielectrophoresis in a non-uniform alternating electric field (DEF in NUAEF), terahertz spectroscopy, ellipsometry, Raman-spectroscopy. RESULTS: Polymorphism of erythrocytes, rigidity, viscosity, indexes of aggregation and destruction were significantly higher in patients with CC and polarizability, amplitude of erythrocyte deformation in NUAEF being lower than those in the controls. The study of erythrocytes by terahertz spectroscopy revealed the low levels of amplitude transmittance over the whole frequency range in CC patients compared to the controls. The increasing of refractive index, degree of heterogeneity of thin films obtained from the serum in CC patients were observed in considering the ellipsometric parameters. We found a significant increasing of the concentration of antigens to CD24 at the early stage of the disease. The areas of some peaks in Raman spectra were significantly lower in patients with CC compared to the healthy ones, it is possible due to a carotin deficiency. Most of the studied parameters were correlated with the stage of the disease. A set of optical methods for studying blood serum compared with those of histology and radiological methods of diagnosis showed their high sensitivity and specificity, positive and negative predictive value (80 % and above). CONCLUSION: The obtained results of the pilot study demonstrate the prospects of using physical and chemical methods of research of erythrocytes and blood serum for early diagnosis, stage of disease and monitoring the effectiveness of treatment of CC.

[Rationale for using essential phospholipids in chronic diseases of the liver: the dynamics of electric and viscoelastic parameters of erythrocytes].

Under supervision there were 38 men (age from 36 till 57 years) with diffuse hepatic diseases (DHD) in stadia of hepatitis, 27--in dynamics of treatment of essential phospholipids. Is experimentally established: structure-functional erythrocyte characteristics by methods of dielectrophoresis, thin-layer chromatography correlate with lipid and phospholipid composition of red cell membranes. The low level of phospholipids in erythrocyte membranes and direction of changes in their fractional composition in the DHD is the basis for the use of essential phospholipids. Against the background of therapy noted a significant increase in amplitude of deformation, polarizability, capacity, speed of movement of red blood cells to the electrodes and lower levels of generalized indicators of viscosity, rigidity, electrical conductivity, index of aggregation and destruction.

[Theoretical and experimental study of the effect of membrane pores on spectra of amplitudes of polarization of a cell].

Spectra of amplitudes of polarization of erythrocytes, yeast cells, and latex particles in the range of 1-10 Hz were investigated by the method of dielectrophoresis. Positive dielectrophoresis of erythrocytes and yeast cells the frequency range of 60 - 100 Hz was revealed. The theoretically positive dielectrophoresis was evidenced by the occurrence of channels across the cell membrane and bacterial cell wall.