Exploiting public databases of genomic variation to quantify evolutionary constraint on the branch point sequence in 30 plant and animal species.

The branch point sequence is a degenerate intronic heptamer required for the assembly of the spliceosome during pre-mRNA splicing. Disruption of this motif may promote alternative splicing and eventually cause phenotype variation. Despite its functional relevance, the branch point sequence is not included in most genome annotations.

Comparison of two multi-trait association testing methods and sequence-based fine mapping of six additive QTL in Swiss Large White pigs.

Background: Genetic correlations between complex traits suggest that pleiotropic variants contribute to trait variation. Genome-wide association studies (GWAS) aim to uncover the genetic underpinnings of traits. Multivariate association testing and the meta-analysis of summary statistics from single-trait GWAS enable detecting variants associated with multiple phenotypes.

Characterization of a haplotype-reference panel for genotyping by low-pass sequencing in Swiss Large White pigs.

Background: The key-ancestor approach has been frequently applied to prioritize individuals for whole-genome sequencing based on their marginal genetic contribution to current populations. Using this approach, we selected 70 key ancestors from two lines of the Swiss Large White breed that have been selected divergently for fertility and fattening traits and sequenced their genomes with short paired-end reads.

Results: Using pedigree records, we estimated the effective population size of the dam and sire line to 72 and 44, respectively.

Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.

Artificial insemination in pig (Sus scrofa domesticus) breeding involves the evaluation of the semen quality of breeding boars. Ejaculates that fulfill predefined quality requirements are processed, diluted and used for inseminations. Within short time, eight Swiss Large White boars producing immotile sperm that had multiple morphological abnormalities of the sperm flagella were noticed at a semen collection center.

Deletion of porcine BOLL is associated with defective acrosomes and subfertility in Yorkshire boars.

A recessive sperm defect of Yorkshire boars was detected more than a decade ago. Affected boars produce ejaculates that contain spermatozoa with defective acrosomes, resulting in low fertility. The acrosome defect was mapped to porcine chromosome 15 but the causal mutation has not been identified.

A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita.

A recessive form of arthrogryposis multiplex congenita (AMC) was detected 20 years ago in the Swiss Large White (SLW) pig population. A diagnostic marker test enabled the identification of carrier animals, but the underlying causal mutation remains unknown. To identify the mutation underlying AMC, we collected SNP chip genotyping data for 11 affected piglets and 23 healthy pigs.

Decontamination of seawater from Cs and Sr radionuclides using inorganic sorbents.

In this work, we have studied sorption of Сs and Sr radionuclides from seawater under batch conditions by ferrocyanide sorbents based on hydrated titanium and zirconium dioxides (Т-35, NPF-HTD), clinoptilolite and glauconite (NPF-GL, NPF-CL) natural aluminosilicates, zirconium phosphate (T-3A), modified hydrated titanium dioxide (T-3K) as well as by manganese dioxide based on hydrated titanium dioxide (MD-HTD). Isotherms of sorption and dependences of cesium distribution coefficients on salt content and calcium concentration were obtained. Distribution coefficients of cesium and strontium were calculated.

Application of Immobilized Enzymes in Food Industry.

Enzymes are macromolecular biocatalysts, widely used in food industry. In applications, enzymes are often immobilized on inert and insoluble carriers, which increase their efficiency due to multiple reusability. The properties of immobilized enzymes depend on the immobilization method and the carrier type.

[Effect of physical rehabilitation on endothelial dysfunction in chronic inflammatory joint diseases].

The purpose of the study was to determine the degree of influence of physical exercises on endothelial dysfunction in patients with chronic articulation inflammatory diseases on the example of rheumatoid arthritis (RA) and osteoarthritis (OA). 41 patients with chronic articulation inflammatory diseases were examined. Endothelial dysfunction was detected in 37% OA patients and 77% RA patients.

[Abdominal obesity--factor contributing to osteoarthrosis of the knee joints].

Aim: To compare clinical picture of osteoarthrosis (OA) in subjects with abdominal obesity (AO), gluteofemoral obesity (GO) and normal body mass (NBM).

Material And Methods: The examination including assessment of anthropometric parameters, clinical characteristics of the joints, total cholesterol (TC), C-reactive protein (CRP), ultrasonography of the joints was made in 123 females aged 40-80 years with primary OA.

Results: OA characteristics did not differ much in GO and NBM women, while these differences were obvious in AO women who had TC and CRP much higher than NBM women.

[Efficacy of intensive therapeutic exercise and interval hypoxic training in rheumatoid arthritis].

Three-month follow-up of 142 patients with mildly active rheumatoid arthritis (RA) discovered that maximal improvement of clinical picture and peroxide-antioxidant imbalance can be achieved in patients doing intensive physical exercise at home according to a special program. Clinical effects of standard therapeutic exercises were insignificant. A course of interval hypoxic training resulted, as a rule, in relief of pain.

[Comparative study of the reactivity, safety and immunogenicity of "Havrix" inactivated hepatitis A vaccine].

This paper sums up the results of controlled field clinical trials of adult and childhood variants of Harvix, inactivated vaccine from hepatitis A. The vaccine is weakly reactogenic and safe. After a single injection of Harvix-1440 vaccine to adults the percentage of seroconversions in previously seronegative individuals was 80.

[Characteristics of "Avaxim" hepatitis A vaccine produced by the firm "Pasteur Merrier" (results of field clinical trials)].

Controlled field clinical trials of Avaxim vaccine from hepatitis A (Pasteur-Merrier-Connot) were carried out in adults and children aged 3-14 years to evaluate its reactogenicity and antigenic properties. The vaccine was weakly reactogenic both in adults and children. A single injection of the vaccine resulted after 1 month in the production of anti-HAV antibodies in 77.

[Results of controlled tests of an experimental recombinant live vaccine against hepatitis B].

Experimental recombinant vaccine against hepatitis B Revacc B based on vaccinia virus has been tried. The preparation was weakly reactogenic but did not induce the production of anti-HBasAg antibodies. On the other hand, recombinant vaccine against hepatitis B Engerix B, used in a blind experiment as the agent of comparison, induced the production of anti-HBs in 91% of vaccinees.

[Russian recombinant vaccine against hepatitis B (results of controlled trials)].

Two yeast recombinant vaccines were compared: the Russian hepatitis B Combiotech vaccine in a dose of 20 mg and the Recombivax-HB vaccine in a dose of 10 mg manufactured in the USA (Merk, Sharp and Dohme Ltd.). Both agents were found safe and low reactogenic.

[The vaccinal prevention of the HBsAg carrier state among newborn infants].

The paper presents the data on the time course of HBsAg carrier state in babies born to mothers with antigenemia indicating the dependence of the pattern of the antigen carrier state in babies upon the time of its primary detection. The stable (chronic) HBsAg carrier state in babies was shown to be formed after the first 3 months of life which attests to the necessity of using a vaccine against hepatitis B (HB) for prevention of HBsAg carrier state in newborns. The results of epidemiological survey in 185 babies developing HB with the analysis of all possible factors of their infection contraction are presented.