Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
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Biomedical subjects
Publications and source records attributed to D Konstantinova.
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The immunostimulating and protective effects of an oral polybacterial immunomodulator, Dentavax (D), composed of killed cells from Klebsiella pneumoniae, Streptococcus pyogenes, Staphylococcus aureus, Candida albicans and Lactobacillus acidophilus and their lysates, have been investigated on an experimental rabbit model. In this model, mixed suspensions of the above bacterial wild strains have been injected in six sides of oral mucosa. A long-lasting inflammation with the development of infiltrates and confluating abscesses has been observed. The influence of orally given Dentavax on the course of the model infection as well as on the dynamics of the immune response has been studied. A two-fold decrease in the duration and severity of inflammatory reaction, confirmed by the histological findings, has been registered. In immunised animals, an activation of polymorphonuclear phagocytosis, together with stimulation of humoral systemic and mucosal immunity with synthesis of specific serum (predominantly, IgG) and coproantibodies (predominantly, S-IgA) determined by ELISA, has been found. The results obtained proved the strong immunostimulating and protective effects of the preparation D, which is meant for the prophylaxis and treatment of inflammatory periodontal diseases.
We present data on the population genetics of cystic fibrosis (CF) in Bulgaria, obtained by comprehensive mutation analysis and the construction of intragenic microsatellite haplotypes. The sample of 262 CF alleles analysed is representative of the patients diagnosed during the period of referral and of the three main ethnic groups in the country. deltaF508 accounted for 100% of Gypsy CF alleles, which thus differed significantly from both Bulgarians and ethnic Turks. In Bulgarian and Turkish CF patients, 92% of the mutant alleles were identified, yielding a total of 25 different mutations, of which only 7 occurred at frequencies higher than 1%. The findings were compared to other European populations and to the distribution of phenylketonuria mutations. Genetic distances and population trees demonstrated that in the south-eastern tip of Europe, the overall distribution of CF mutations and polymorphic haplotypes is very close to that of Mediterranean populations, with a high frequency of N1303K and G542X, a large number of rare mutations and a prevalence of the 23 31 13 haplotype in association with deltaF508. These findings are consistent with a main role for the Neolithic expansion in the shaping of the CF mutation spectrum in Bulgaria and southern Europe.
A preparation for the prophylaxis and treatment of inflammations of oral mucosa and parodont Dentavax (D) was investigated in guinea pigs. Animals were given orally D for 5 consecutive days and a month later the procedure was repeated. On day 3, 10, 21, and 28 after immunization and reimmunization lymphoproliferative responses to PHA, rIL-2, LPS and D were measured by the radiometric blast transformation assay in peripheral blood, spleen, mesenteric lymph nodes (MLN) and Peyer's patches (PP). The percentage of cells entering S and G2/M-phases of cell cycle was assessed by the flow cytometric DNA analysis. A correlation in proliferative activity of cells after in vitro stimulation with PHA and LPS has been established by both methods. Peak values of lymphocyte stimulation were found on day 10, especially after the second administration of D in all organs tested, mainly in MLNs and spleen. Electron-microscopic studies demonstrated an extensive development of the endoplasmatic reticulum in plasmatic cells from spleen, PPs, mesenteric, bronchial and inguinal lymph nodes. The results obtained may be considered a proof of the immunostimulating effect of Dentavax.
The radiographic findings in two children with osteomesopycnosis are described. This is the first report in the Australian literature of this uncommon, recently described entity.
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Chemically modified allergens (allergoids) were obtained from house dust mites (Dermatophagoides pteronyssinus). The allergenicity of allergoids in comparison with commercial mite allergen was determined by the skin prick test and by the in vitro test of degranulation of passively sensitized rat mast cells. Changes in allergoid molecules were determined with the use of gel filtration in a column packed with Sephadex G-75, isoelectric focusing in polyacrylamide gel, the determination of the concentration of end amino groups and the enzymatic activity of preparations, as well as HPLC. The possibility of using these methods for controlling the process of modification was studied. The results confirmed the fact that the modification on the allergenic preparation really occurred and the allergenic activity of allergoids was low.