[On industrial conditionality of diseases among copper melting enterprise workers].

Health state of workers in hazardous conditions of copper melting enterprise depends on wide spectrum of somatic occupationally conditioned diseases. Economic damage from workers' health disorders due only to cardiovascular diseases can be considerable. To reduce this damage, hygienic measures are necessary to improve work conditions, to preserve occupational fitness of the workers, other measures to diminish controllable factors of vascular risk and to prevent occupationally conditioned cardiovascular diseases.

[MONITORING OF THE CONTENT OF HEAVY METALS AND ELEMENTS IN THE SNOW COVER IN AGRICULTURAL SOILS AT THE TERRITORY OF THE MOSCOW REGION].

The monitoring of snow cover pollution by heavy metals and elements (zinc, copper, lead, cadmium, arsenic, nickel, chromium, strontium, manganese, fluorine, lithium) was performed in 20 districts of the Moscow region in 2009, 2012 and 2013. The assessment of the levels of contamination by heavy metals and elements was given by means of comparison of them with the average values in the snow cover near Moscow in the end of the last century and in some areas of the world, that no exposed to technological environmental impact. 7 districts of Moscow region were characterized by a high content of lead and cadmium in the snow water. It requires the control of water, soil and agricultural products pollution.

[DISSOCIATION OF DISORDERS OF CARBOHYDRATE AND LIPID METABOLISM IN ALUMINUM INDUSTRY WORKERS ACCORDING TO MEDICAL EXAMINATION DATA].

There were analyzed results of a periodical medical examination of 396 aluminum plant workers. There was established the significant dissociation of carbohydrate and lipid metabolism indices in people contacting with elevated concentrations qf inorganic fluorine compounds as compared to control group of patients which were not exposed to the toxic chemicals. This can testify to the risk of early onset of diabetes mellitus type 2 for aluminum industry workers and to the necessity of the implementation of timely measures for this worker category.

Lipid Peroxidation-Antioxidant Defense System during Toxic Liver Damage and Its Correction with a Nanocomposite [corrected] Substance Containing Selenium and Arabinogalactan.

Experiments on rat model of toxic liver damage (CCl4, subcutaneously) have demonstrated that selenium nanopreparation on arabinogalactan matrix and partially arabinogalactan alone prevented the development of oxidative stress assessed by the balance of LPO and antioxidant defense processes.

[Monitoring of the chemical composition of snow cover pollution in the Moscow region].

Monitoring of snow cover pollution as an indicator of ambient air pollution in 20 districts in the Moscow region during 2009-2013 was performed. The identification with a quantitative assessment of a wide array of organic compounds and the control of the main physical and chemical and inorganic indices of snow water pollution were carried out. More than 60 organic substances for most of which there are no the hygienic standards were established. The assessment of pollution levels of basic inorganic indices was given by means of the comparing them with the average values in the snow cover in the European territory of Russia and natural content in areas not been exposed to human impact.

[International criteria of the research activity of groups and individual scientists in biology and medicine].

Comparison data on results of efficiency of the research institutes (RI) of RAMS by international and own evaluation criteria of the research activity of above institutions in 2011 are presented. The consistency of international and own evaluation results was observed in 21RI (39%), the institutions-leaders found, and in 13 RI (24%) - less effective institutions. Thus, the use of own evaluation criteria only complicates the unbiased assessment of the Russia's position in the international scientific rating.

[Features of fluor intoxication development in patients with nondifferentiated connective tissue dysplasia and physical therapy methods for these patients].

The article covers results of studies concerning time of fluorosis development in patients with signs of connective tissue dysplasia syndrome (CTDS). if compared with patients without CTDS, and of studies concerning hyperostosis coefficient in accordance with presence or absence of CTDS. Efficiency of physical therapy and balneotherapy for these patients are also reported by the authors.

[Electrothermal atomic absorption determination of arsenic in plants and plant products].

The authors have developed the optimal temperature-time parameters of electrothermal atomic absorption determination of arsenic in plants after their acid predigestion. The matrix modifier is 1% nickel nitrate or palladium nitrate solution. Cuvettes (ovens) are simple, made of porous or pyrolytic graphite. The analytical program is suitable for both spectrometers with Zeeman and deuterium background correction. The correctness of the procedure has been estimated from the results of analysis of state reference samples certified for their arsenic content. The coefficient of variation was 20-35% for the concentration range of 0.02-0.2 mg/kg.

[Mathematic analysis of risk factors influence on occupational respiratory diseases development].

Analysis covered 1348 case histories of workers exposed to industrial dust in Urals region. The analysis applied mathematical processing of survival theory and correlation analysis. The authors studied influence of various factors: dust concentration, connective tissue dysplasia, smoking habits--on duration for diseases caused by dust to appear. Findings are that occupational diseases develop reliably faster with higher ambient dust concentrations and with connective tissue dysplasia syndrome. Smoking habits do not alter duration of pneumoconiosis development, but reliably increases development of occupational dust bronchitis.

[Non-medicamentous correction of changes in the cardiovascular and respiratory systems in subjects exposed to chrysolite asbestos dust].

Two physiotherapeutic complexes are proposed for the improvement of functional characteristics of the respiratory and cardiovascular systems that can be used for the non-medicamentous treatment of patients with cardiovascular diseases or concurrent broncho-pulmonary and cardiovascular pathologies. One complex is designed for the treatment of patients with asbestosis including that complicated by chronic obstructive bronchitis in the phase of remission with the well-apparent signs of myocardial electric instability. The use of the other complex is indicated to patients with chronic obstructive bronchitis in the phase of exacerbation and the signs of chronic pulmonary heart associated with cardiac dysrhythmia.

[Forecasting risks of occupational dust diseases in individuals contacting chrysotile-asbestos dust].

Analysing terms of occupational respiratory dust diseases formation proved that length of service under exposure to chrysotile-asbestos aerosols, which is according to prognosis associated with final development of dust diseases in half of the examinees, is 33.55 years. Dynamics of final diagnostic criteria formation for occupational disease in relation to length of service is not a linear type.

[7-year experience in usage of mirapex in patients with different forms of primary parkinsonism].

The results of mirapex (pramipexol) treatment of 402 patients with Parkinson's disease and juvenile parkinsonism during the period from 6 months to 7 years are summarized. Mirapex was used in monotherapy as well as in combination with levadopa and other antiparkinsonic drugs. The drug was well tolerated and effective in rest tremor, hypokinesia, muscle rigidity and depression, the more pronounced effect being seen at the early stage of the disease. The use of mirapex allows an effective control of motor fluctuations developing during long-term continuous levodopa therapy. The results obtained characterize mirapex as a drug of choice in the treatment of juvenile parkinsonism. In case of a break in mirapex treatment, the recommencement of treatment usually is not accompanied by reduced sensitivity to drug effect.

[Clinical and stabilometric analysis of postural instability in Parkinson's disease]. / Kliniko-stabilometricheskii analiz postural'nykh narushenii pri bolezni Parkinsona.

A disturbance of postural control is one of the most invalidating symptoms of Parkinson's disease (PD), and mechanisms underlying its development have not been so far elucidated. To specify the postural control features in different PD forms, clinico-neurophysiological analysis was conducted in 61 patients divided into 3 groups according to PD forms: tremor-rigid, rigid-tremor and akinetic-rigid. Dissociation between clinical expression of postural instability and its stabilometric reflection--the square of statokinesogram was found, indicating importance of differentiated approach in performance of stabilometric analysis in patients with different PD forms. The square of statokinesogram may be regarded as a neurophysiological marker of postural instability only in patients with rigid forms, in tremor parkinsonian phenotypes an increased square of stabilogram being mainly a stabilometric reflection of tremor. The importance of stabilometric test performance with cognitive loading, allowing switching out of voluntary posture control, is shown. Possible neuromediator mechanisms involved in postural instability in PD are discussed.

Crystallization and preliminary X-ray diffraction analysis of restriction endonuclease EcoRII.

Crystals of the restriction endonuclease EcoRII have been obtained by the vapor-diffusion technique in the presence of ammonium sulfate or polyethylene glycol. The best crystals were grown with ammonium sulfate as a precipitant. Crystals with dimensions of up to 0.6 x 0. 6 x 0.6 mm have been observed. The crystals diffract to about 4.0 A resolution at a cryo-temperature of 100 K using a rotating-anode X-ray source and a Rigaku R-AXIS IV imaging-plate detector. The space group has been determined to be either I23 or I2(1)3, with unit-cell parameters a = b = c = 160.3 A, alpha = beta = gamma = 90 degrees. The crystal asymmetric unit contains two protein molecules, and self-rotation function analysis shows a pseudo-twofold symmetry relating the two monomers. Attempts to improve the resolution of crystal diffraction and to search for heavy-atom derivatives are under way.

The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including an enzyme assay, the analysis of glycosphingolipid excretion and isoelectric focusing of a patient leukocyte extract allowed us to identify Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The analysis of genomic DNA of four patients and their mother revealed a novel E341K missense mutation caused by a G to A transition (codon 341 GAA-AAA) in the alpha-galactosidase A gene.

A model of EcoRII restriction endonuclease action: the active complex is most likely formed by one protein subunit and one DNA recognition site.

To elucidate the mechanism of interaction of restriction endonuclease EcoRII with DNA, we studied by native gel electrophoresis the binding of this endonuclease to a set of synthetic DNA-duplexes containing the modified or canonical recognition sequence 5'-d(CCA/TGG)-3'. All binding substrate or substrate analogues tested could be divided into two major groups: (i) duplexes that, at the interaction with endonuclease EcoRII, form two types of stable complexes on native gel in the absence of Mg2+ cofactor; (ii) duplexes that form only one type of complex, observed both in the presence and absence of Mg2+. Unlike the latter, duplexes under the first group can be hydrolyzed by endonuclease. Data obtained suggest that the active complex is most likely formed by one protein subunit and one DNA recognition sequence. A model of EcoRII endonuclease action is presented.

[Biochemical study of unusual cases of Fabry disease]. / Biokhimicheskoe issledovanie neobychnykh sluchaev bolezni Fabri.

Fourteen members of family P. and four members of family N. were clinico-biochemically examined. Among twelve adult children (19-32 years old) of family P. five sons manifested angiokeratotic skin lesions and other clinical signs of Fabry disease. Three of the probands had additional symptoms not generally found in Fabry disease. Biochemical studies including an enzyme assay, analysis of storage products and alpha-galactosidase multiple forms, allowed us to confirm the diagnosis of Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The data of biochemical investigation of patient N. with atypical variant of Fabry disease are also presented. The patient N. with strong skin lesions had a high residual alpha-galactosidase activity and unusual composition of alpha-galactosidase multiple forms.

[Change of isoforms' spectrum of alpha-L-fucoside secreted by affected cells in some hereditary lysosomal diseases]. / Izmenenie spektra mnozhestvennykh form alpha-fukozidazy, sekretiruemoí kletkami-misheniami pri nekotorykh nasledstvennykh énzimopatiiakh.

In vitro it was studied the isoform spectra of the intracellular and secreted alpha-L-fucosidase from skin fibroblasts of patients with Fabry disease (glycolipidosis), Hurler and Sanfilippo D diseases (mucopolysaccharodosis, types I and III) and in the normal state was studied. It was shown that the multiple form profile of secreted alpha-L-fucosidase in patients fibroblasts was changed as compared to that in control: the pathological cells were characterized by expression of more basic isoforms of alpha-L-fucosidase. The changes were similar to those in sucrose-loaded normal cells, modelling storage disease. The data obtained allow the suggestion that the intracellular accumulation of compounds whose hydrolysis was disturbed on a hereditary deficiency of enumerated glycosidases can influence the posttranslational processing of alpha-L-fucosidase, the enzyme which is not primary affected in these disorders. These data allow the conclusion that the high phenotypic heterogenity of lysosomic storage diseases is possibly due to the influence of so-called epigenetic factors involving the changes in properties of such glycosidases as are not associated with a primary hereditary defect.

Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.

We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphamidase and an added yeast enzyme preparation which hydrolyses the MU-alpha-glucosaminide intermediate. Optimal conditions for a sensitive, accurate, and convenient procedure for use in the prenatal diagnosis of Sanfilippo A syndrome are described. Previously, prenatal diagnosis of Sanfilippo A syndrome has been achieved by a radioactive sulphamidase assay in chorionic villi or in cultured amniocytes and by two-dimensional electrophoresis of glycosaminoglycans in amniotic fluid. Our experience using these methods in 35 pregnancies at risk is reported. The feasibility of the new fluorogenic assay was evaluated by retrospective testing of stored homogenates of chorionic villi and amniotic fluid cells from 22 pregnancies at risk. Unequivocal assignment of the fetal status in five affected pregnancies and 17 pregnancies with a normal outcome confirms the reliability of the new sulphamidase assay, which is in every respect more convenient than the conventional method using 35S-radiolabelled heparin.