[Autoimmune encephalitis: psychiatric aspects]. / Autoimmunnye entsefality: psikhiatricheskie aspekty.

Autoimmune encephalitis is a group of diseases researched by both neurologists and psychiatrists. Despite a large number of studies and practical recommendations, the differential diagnosis and early diagnostics still remains an important issue. The most difficult to diagnose are cases that debut as mental disorders and/or occur without neurological symptoms. The literature review presents the current state of the problem with an emphasis on the practice of a psychiatrist.

Dependence of blood biochemical parameters on various genotypes of the UGT1A1 gene associated with gilbert's syndrome.

Diagnosis of Gilbert's syndrome is based on the detection of homozygous carriage of an additional TA-repeat in the promoter of the UGT1A1 gene, leading to a decrease in the activity of the UGT enzyme. No large studies have been done in the Russian Federation on the prevalence of carriage of Gilbert's syndrome, as well as the biochemical and molecular profile of such patients. The aim of the study is to evaluate biochemical and molecular genetic parameters in patients with Gilbert's syndrome in Russia. The study included 124 healthy volunteers (group 1) and 5650 patients with suspected Gilbert's syndrome (group 2). The number of TA-repeats of the promoter region of the UGT1A1 gene was determined by the method of fragment analysis for all participants. The following biochemical parameters were analyzed for 299 patients from group 2: the level of bilirubin and its fractions, AST, ALT, cholesterol and LDL. In group 1 the prevalence of genotype (TA)6/(TA)6 was 39,52%, (TA)6/(TA)7 - 53,23%, (TA)7/(TA)7 - 7,26%, no rare forms were found. In group 2 the prevalence of genotype (TA)6/(TA)6 was 6,04%, (TA)6/(TA)7 - 20,05%, (TA)7/(TA)7 - 73,7%, rare alleles - 0,2%. Rare alleles included (TA)5/(TA)6, (TA)5/(TA)7, (TA)6/(TA)8 and (TA)7/(TA)8, as well as a new genotype not described in the literature previously - (TA)7/(TA)9. When assessing the level of total bilirubin and its fractions, a difference was revealed between the genotype of Gilbert's syndrome (TA)7/(TA)7 and the reference genotype (TA)6/(TA)6, and between genotypes (TA)7/(TA)7 and (TA)6/(TA)7. A significant increase in total bilirubin was demonstrated in carriers of a larger number of TA-repeats. There was no significant difference in the concentration of ALT, AST, cholesterol or LDL between different genotypes.The number of TA-repeats of the UGT1A1 gene affects the increase of total bilirubin and its indirect fraction, including the cases of rare allelic variants (TA≤5, TA≥8), but not the activity of ALT and AST and the lipid profile.

[THE COMPARISON OF TECHNIQUES OF ELECTROPHORESIS, IMMUNE TURBIDYNAMIC MEASUREMENT AND PHENOTYPING OF ALPHA-1-ANTITRYPSIN FOR DIAGNOSTIC OF ALPHA-1-ANTITRYPSIN INSUFFICIENCY].

The qualitative and quantitative deficiency of alpha-1-antitrypsin (A1AT) is an inherited factor of susceptibility to a number of conditions including chronic obstructive disease of lungs and primary emphysema and liver affection. The study was carried out to evaluate analysis of alpha-1-fraction (A1F) using zonal electrophoresis technique for detecting patients with alpha-1-antitrypsin insufficiency (A1ATI). The patients with decreased (group I) and normal (group II) A1F on proteinogram. The electrophoresis was applied using the system of capillary electrophoresis Capillaris-2 Flex Piercing (Sebia, France) and also system for electrophoresis in agarose gel SAS-1/SAS-2 (Helena Biosciences, Great Britain). The commercial kit Sentinel diagnostics (Italy) and biochemical analyzer A15 (Biosystems, Spain) were used for quantitative detecting of A1AT The study results demonstrated that decreasing of A1F on proteinogram correlated with lessening of concentration of A1ATI in blood serum and with presence of its pathological phenotype. The average values of concentration of A1AT in group I and group II made up to 1148 and 1738 mg/I correspondingly. The total rate of pathological phenotypes made up to 76% (19/25) in group I that reliably differed from indicators in group II--7.1% (2/28). Thereby, electrophoresis of proteins of blood serum can be sufficiently informative for primary selection of patients requiring examination for presence of A1ATI.