[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 estimated glomerular filtration rate in outpatients].

The glomerular filtration rate (GFR) calculated by the MDRD formula was estimated in a population of outpatients aged over 18 years. Serum creatinine concentrations were measured, by using 5 analytical systems: Abbott Architect (n = 9054), Roche Modular (n = 22947), Roche Integra 400 (n = 2748), Roche Integra 700 (n = 8350), and Roche Hitachi (n = 20196). For 4 systems, the distribution of GFR differed little. The exception was the Roche Hitachi analytical system where TE and bias were higher than the acceptable requirements. Therefore, with this system, the proportion of outpatients with a GFR of < 60 ml/min per 1.73 m2 was twice higher than that with the use other analytical systems. Such publications should contain data on the analytical quality of measurement of serum creatinine concentrations in the range of 88 to 140 micromol/l. The estimated GFR may be clinically used provided that the performance of this test will be better than the acceptable analytical quality requirements established by the working NKDEP group.

[Testing the acceptability of applied reference intervals, by using serum creatinine as an example].

Unfortunately, the international standard ISO 15189:2003 does not give clear guidelines for the choice, development, and testing the acceptability of reference intervals. The so-called normalization of the frequency distribution of serum creatinine concentrations was carried out in the population of outpatients above 18 years of age. Creatinine concentrations were measured, using 5 analytical systems: Abbott Architect (n=9054), Roche Modular (n = 22,947), Roche Integra 400 (n=2748), Roche Integra 700 (n=8350), and Roche Hitachi (n = 20,196). The obtained 95% confidence intervals were compared with the published reference intervals. It is shown that this approach may be valuable in the assessment of acceptability of the used reference intervals, by taking into account the analytical quality of measurement of creatinine concentrations. Whether there is an association of the analytical quality of measurement of creatinine concentrations and their biological variations with the approaches to developing and using the reference intervals in clinical practice is discussed.

Analysis of fluid in craniopharyngioma-related cysts in children: proteins, lactate and pH.

The purpose of this study was to evaluate the possible role of blood-brain barrier disruption in cyst formation in craniopharyngioma. Fifteen samples of cyst fluid and 14 samples of blood serum were collected from 14 patients with cystic forms of craniopharyngiomas and studied biochemically regarding total protein, albumin, immunoglobulins G and M contents, lactate and pH. Analysis of the data obtained for cyst fluids according to Felgenhauer and comparing them to those obtained for the corresponding blood sera led us to prove the hypothesis of blood-brain barrier impairment in patients with cyst formations in craniopharyngioma. We have also revealed an elevated lactate content and decreased pH in cyst fluids compared with blood sera. Thus the pathogenesis of craniopharyngiomal cyst appears to be much more akin to those described for cysts accompanying other brain tumours than it was believed earlier.