National Repository of Grey Literature 11 records found  1 - 10next  jump to record: Search took 0.01 seconds. 
Molecular genetic examinations in clinically defined group of patients with syndromic sight and hearing impairment in rare genetic disorders associated with deafblindness in the CR and SR
Čopíková, Jana ; Kremlíková Pourová, Radka (advisor) ; Astl, Jaromír (referee) ; Baxová, Alice (referee)
Deafblindness is a combined impairment of vision and hearing with an incidence of about 1: 8000 children and 1: 5500 adults. The most common genetic causes are the Stickler (STL) and Usher (USH) syndromes. The main goal of this work is to provide an up-to-date overview of STL and USH in the Czech and Slovak Republic (CR and SR), to determine the correlations between the genotype and phenotype in our population and the associated diagnostic criteria. Using sequencing and MLPA we examined 45 patients from 28 families for suspected STL. We found potentially causal variants of STL genes in 39 patients from 22 families. Fifteen different COL2A1 variants (8 being novel) were found in 28 patients from 18 families and 4 novel COL11A1 variants were found in 11 patients from 4 families. We identified the cause of the disease in 79 % of the families. The USH study involved 30 patients from 27 families. The most frequent cause was USH2A pathogenic variants, i.e. 19 variants in 14 families, 9 being novel. Less common were pathogenic variants in MYO7A (6 variants in 3 families, 5 being novel), USH1C and CDH23 (3 variants, 2 being novel, in 2 families both) genes. In 2 families, compound heterozygosity was found for variants in two different USH genes. The deafblindness etiology was clarified for 24 patients from...
Purification of water soluble bioactive polysaccharides from biomass of heterotrophic mutant alga Chlorella vulgaris G11.
Sushytskyi, L. ; Lukáč, Pavol ; Bleha, R. ; Čopíková, J. ; Vannucci, Luca ; Sinica, A. ; Kaštánek, P.
Water extract obtained from biomass of mutant alga Chlorella vulgaris G11 was deproteinized and then purified with AEC on DEAE Sepharose FF and SEC on Sepaphadex G-75 superfine columns. Two high MW (>1000 kDa and 98,3 kDa) polysaccharides (CPS1 and CPS3) were eluted with water and 0.5M NaCl on DEAE column, and heteropolysaccharide with MW of 15 kDa (CPS2) was also eluted with water on DEAE. The former fractions were identified as branched rhamnans, the latter one as branched xylogalactofuranan of unusual structure. CPS1 shown properties of unstable polimer: according to GPC analysis and by using light scattering and RI detectors it was found, that some fraction of polymers (260-800 kDa) have self-assembling properties in aqueous solution, and MW of this fraction decreased during some time while polimer with initially bigger MW (>1000 kDa) became bigger. CPS3 was eluted with 0.3-0.5 M of NaCl on DEAE Sepharose FF column and have MW of 98,3 kDa. Cell toxicity of the products were tested in vitro on cell cultures for different concentrations
Use of Microwave Heating in the Synthesis of Novel Polysaccharide Derivatives.
Taubner, T. ; Synytsia, A. ; Sobek, Jiří ; Kortanková, V. ; Čopíková, J.
Microwave-assisted modification of polysaccharides is a relatively new method. Microwave heating is used for improving of extraction, hydrolytic and synthetic procedures. Modification of polysaccharides with the microwave irradiation is effective, fast and economic. The aim of this study was to apply the microwave irradiation in synthesis of carboxymethylcellulose (CMC) derivatives. This polysaccharide and its methyl ester reacted with n-butylamine yielding N-butylamide. The reactions were subsequently monitored by FUR and organic elemental analysis of the products. Degree of substitution (DS) and reaction yields were calculated based on nitrogen and carbon contents. The optimal reaction conditions were found to prepare product with the highest DS. Amino-de-alkoxylation of CMC methyl ester was significantly more effective than direct microwave assisted amidation of CMC, and microwave assisted significantly improved amino-de-alkoxylation.
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Amidation of Oxidized Cellulose and Carboxymethyl Cellulose
Taubner, C. ; Synytsya, A. ; Sobek, Jiří ; Čopíková, J.
This paper deals with the preparation of amide derivatives of oxidized cellulose and carboxymethyl cellulose. The article compared the degree of substitution of products and purity of products.
Preparation of Amide Derivatives of Oxidized Cellulose and Carboxymethylcellulose
Taubner, T. ; Synytsya, A. ; Sobek, Jiří ; Čopíková, J.
This work is focused on the preparation of amide derivatives of oxidized cellulose and carboxymethyl cellulose. Research involved the preparation of derivatives in two steps and the first preparation of a methyl ester of the starting polysaccharide, and then aminodealkyxilation with selected primary alkylamines, ethanolamine, ethylenediamine, hydrazine and hydroxylamine. Another part of the research included the direct amidation without intermediate steps starting polysaccharide preparation of methyl ester using the same reagents and support of microwave radiation. The obtained products were monitored by FT-IR spectroscopy and organic elemental analysis.
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Plný tet: SKMBT_C22012043014260 - Download fulltextPDF
Analysis of marketing strategy of nonprofit organisation
Papcunová, Ivana ; Lhotáková, Markéta (advisor) ; Čopíková, Jana (referee)
This diploma thesis deals with analysis of marketing strategy of Slovak nonprofit and nongovernmental organisation Úsmev ako dar and its project Najmilší koncert roka. This organisation concerns with help and care about children from foster homes. The theoretical part describes nonprofit organisations, its funding and its specific marketing. The practical part begins with description of organisation Úsmev ako dar and its project Najmilší koncert roka, and continues with analysis of its marketing mix and communication strategy, and also the analysis of the marketing strategy for project Najmilší koncert roka, where the results are compared with results from survey.
Deriváty oxidované celulozy
Taubner, T. ; Sobek, Jiří ; Havelka, P. ; Kvasnička, F. ; Synytsya, A. ; Čopíková, J.
The reactivity of Na and salt of oxidized cellulose and its oligosaccharides with chitosan will be presented. Hydrolysis of Na and salts of oxidized cellulose was carried out in homogenous system by means with microwave irradiation at constant conditions. The reaction progress was monitored by capillary isotachophoresis and size exclusion chromatography. Reactivity of oxidized cellulose or its hydrolysates with NH2 groups of chitosan was promoted by MW irradiation. Reaction was monitored by infrared spectroscopy.
Hydrolýza oxidované celulosy
Čopíková, J. ; Sobek, Jiří ; Novák, M. ; Jeřábek, T.
Hydrolysis product of oxide cellulose was preparing in microwave owen. In this case, conventional heating and microwave heating was compared. Conversion of hydrolysis reaction under microwave heating was higher.
Determination of polysaccharides structure by spectroscopic methods
Synytsya, A. ; Blafková, P. ; Čopíková, J. ; Spěváček, Jiří
Possibilities of vibrational and NMR spectroscopy in structural characterization of polysaccharides were illustrated on examples of several polysaccharide systems (pectins, chitin, chitosan, chitosan lactate, carrageens, chondroitinsulphate).

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