[Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing].

Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method. NGS data were collected for 38 biopsied embryos and compared with the data from array comparative genomic hybridization (array-CGH). The concordance between the NGS and array-CGH data was 94.8%. Two samples showed the karyotype 47,XXY by array-CGH and a normal karyotype by NGS. The discrepancies may be explained by loss of efficiency of array-CGH amplicon labeling.

Comparison of the results of preimplantation genetic screening obtained by a-CGH and NGS methods from the same embryos.

Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos. This article presents our study of evaluation of two techniques used for PGS: previously developed and used in our laboratory a-CGH assay based on Agilent technology and newly tested semi-conductive NGS technique (Torrent technology).

[Assessment of demographic and sociohygienic monitoring].

Experience in solving specific problems in sociohygienic monitoring shows that among risk factors, health losses are most commonly considered from the man-caused environmental load on the population, by employing statistical modeling methods and reports on monitoring socioeconomic risk factors are evidently insufficient. A cause-effect relation in the habitat-population health system should be revealed, by taking into account the combined multienvironmental influence of man-caused (chemical, physical) and social factors. For solution of the problems put in work, multivariate analysis was used to reveal the common mechanisms of an association of socioeconomic conditions, national composition, morbidity and disability rates, migration processes, and demographic structure with birth and mortality rates in villagers in the context of economic areas and municipal entities.

[AlkB homologues in thermophilic bacteria of the genus Geobacillus].

Screening of alkane hydroxylase genes (alkB) was performed in the thermophilic aerobic bacteria of the genus Geobacillus. Total DNA was extracted from the biomass of 11 strains grown on the mixture of saturated C10-C20 hydrocarbons, PCR amplification of fragments of alkB genes was performed with degenerate oligonucleotide primers, PCR products were cloned and sequenced. For the first time in the genome of thermophilic bacteria the presence of a set of alkB gene homologues was revealed. The strains each contain three to six homologues among which only two are universal for all of the strains. Comparative phylogenetic analysis of the nucleotide sequences and the inferred amino acid sequences showed close relatedness of six of the revealed variants of geobacilli sequences to the alkB4, alkB3, and alkB2 genes that had previously been revealed by other authors in Rhodococcus erythropolis strains NRRL B-16531 and Q15. The rest two variants of alkB sequences were unique. Analysis of the GC composition of all the Geobacillus alkB homologues revealed closer proximity to the rhodococcal chromosomal DNA than to the chromosomal DNA of geobacilli. This may be an indication of the introduction of the alkB genes into the Geobacillus genome by interspecies horizontal transfer; and rhodococci or other representatives of the Actinobacteria phylum were probably the donors of these genes. Analysis of the codon usage in fragments of alkB genes confirms the suggestion that the pool of these genes is common to the majority of Gram-positive and certain Gram-negative bacteria. Formation of a set of several alkB homologues in a genome of a particular microorganism may result from free gene exchange within this pool.

[A method of genotyping clinical isolates of Ureaplasma urealyticum biovar Parvo]. / Metod genotipirovaniia klinicheskikh izoliatov Ureaplasma urealyticum biovara Parvo.

A new method for typing clinical isolates of U. urealyticum (Parvo biovar) is based on SSCP analysis of amplicons of mba gene 5' region and upstream region. The mba gene is coding for MB gene of U. urealyticum. This method allows genotyping of U. urealyticum isolates using vaginal and cervical swabs without culturing. Sixty-two clinical specimens from patients with a history of chronic cystitis, chronic pyelonephritis, chronic salpingo-oophoritis, erosion of the cervix uteri, and spontaneous abortions were tested for U. urealyticum. The bacterium was detected in 64% (40 specimens), 83% (33) of which belonged to Parvo biovar. Parvo biovar isolates were analyzed and genotyped as follows: first genotype 52%, second genotype 33%, and third genotype 16%. Further sequencing of the first and second genotype amplicons showed that the first genotype belonged to serotype 3 and second genotype to serotype 6.

[Mathematical approach to the problem of early diagnosis in heart failure]. / Matematicheskii podkhod k probleme rannei diagnostiki serdechnoi nedostatochnosti.

A tool set for early detection of heart failure (HF) and its criteria for mass population survey in the polyclinic setting was developed. A two-stage screening programme was carried out. At the first stage, patients with cardiac abnormalities were detected. At the second stage, the patients underwent a complex instrumental study. Fourteen most informative signs of HF were identified. A programme was developed for analysis of their baseline values and adoption of solutions by applying a procedure for inhomogeneous sequential statistic recognition, significantly promoting the diagnosis by employing diagnostic tables.

[Functional organization of the cortico-reticular system of the brain in response to physical loads]. / Funktsional'naia organizatsiia korkovo-retikuliarnoi sistemy mozga pri fizicheskikh nagruzkakh.

An estimation was carried out by factor analysis method of informative value of alpha-like rhythm, EEG theta-rhythm, local cerebral blood filling and oxygen tension (pO2) in estimation of functional state of cerebral structures under submaximal physical loads. Experiments were carried out on 35 rabbits with electrodes chronically implanted in the sensorimotor cortex and reticular formation. The obtained values were processed by a variant of factor analysis--a method of main components. For interpretation of factor loads matrix an orthogonal turn of factor axes was carried out according to varimax criterion. It has been established that informative value of the parameters depends on the brain structure where the given parameters were defined. Dynamics of pO2 and the theta-rhythm mostly influence the changes in other parameters. The states of structures before and during the period of physical load after-effect are mostly characterized by the brain local blood filling and less by the theta-rhythm amplitude.