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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferens (CUAVD) were analyzed by single-strand conformation analysis and denaturing gradient gel electrophoresis for mutations in most of the CFTR gene. All 40 individuals were pancreatic sufficient, but twenty patients had recurrent or sporadic respiratory infections, asthma/asthmatic bronchitis, and/or rhino-sinusitis. Agenesia or displasia of one or both seminal vesicles was detected in 30 men and other urogenital malformations were present in six subjects. Among the 40 samples, we identified 13 different CFTR mutations, two of which were previously unknown. One new mutation in exon 4 was the deletion of glutamic acid at codon 115 (ΔE115). A second new mutation was found in exon 17b, viz., an A→C substitution at position 3311, changing lysine to threonine at codon 1060 (K1060T). CFTR mutations were detected in 22 out of 30 (73.3%) CBAVD patients and in one out of 10 (10%) CUAVD individuals, showing a significantly lower incidence of CFTR mutations in CBAVD/CUAVD patients (P ≪ 0.0001), compared with that found in the CF patient population. Only three CBAVD patients were found with more than one CFTR mutation (ΔF508/L206W, ΔF508/R74W+D1270N, Rl 17H/712-1G→T), highlighting L206W, R74W/ D1270N, and R117H as benign CF mutations. Sweat electrolyte values were increased in 76.6% of CBAVD patients, but three individuals without CFTR mutations had normal sweat electrolyte levels (10% of the total CBAVD patients), suggesting that factors other than CFTR mutations are involved in CBAVD. The failure to identify a second mutation in exons and their flanking regions of the CFTR gene suggests that these mutations could be located in introns or in the promoter region of CFTR. Such mutations could result in CFTR levels below the minimum 6%–10% necessary for normal protein function.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Archiv der Mathematik 50 (1988), S. 199-203 
    ISSN: 1420-8938
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Archiv der Mathematik 60 (1993), S. 214-222 
    ISSN: 1420-8938
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Mathematische Zeitschrift 221 (1996), S. 169-173 
    ISSN: 0025-5874
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1095-8649
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: The extent of genetic variation and levels of temporal and spatial heterogeneity was investigated, at six polymorphic protein-coding loci, in wild Atlantic salmon Salmo salar populations from six rivers of Asturias (Northern Spain). Also, stocks from northern Europe that were among those introduced to repopulate Asturian Rivers, and other wild Spanish and European populations were characterized. The lack of temporal variation observed suggests that effective population sizes of Asturian populations are sufficiently large to prevent extreme levels of genetic drift and that the introduced fish had a negligible contribution to the fisheries of Asturian rivers.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have studied the feasibility of using dinucleotide-repeat microsatellites in the analysis of DNA from ancient bones and teeth. We have used three microsatellites (IVS8CA, IVS17BTA, and IVS17BCA) within the cystic fibrosis transmembrane conductance regulator gene in 28 DNA samples from bones and teeth of up to 5000 years of age. PCR amplification was successful in 71.4% of cases. The repeated analysis of each marker produced different genotypes in 97% of samples, and the same individual genotype was reproduced at least once in 45.5% of cases. Alleles differing from the originals consisted of additions or deletions of 1–39 dinucleotides. The mechanism by which alleles differing from the originals were amplified can be related to the marked degradation of the DNA, with repeat sequences of different length interacting with the partially degraded repeats of the amplified loci. The repeated analysis of each sample allowed us to produce data with some anthropological interest. Among the haplotypes detected in samples from Easter Island, two (16-32-13 and 23-32-13) were found in more than one sample. Similarly, three haplotypes (16-7-17, 16-7-13, and 16-24-13) were detected more than once in samples from the Basque Country. Although haplotypes in the Basque Country are amongst the commonest in European chromosomes, most of those detected in the Easter Island samples are not frequent in Europeans. Thus, the repeated typing of microsatellites allowed us to postulate the genotypes that might be present in the samples but dinucleotide markers do not seem to be reliable enough for genotyping ancient bone and teeth samples.
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  • 7
    ISSN: 0021-9304
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine , Technology
    Notes: The influences of conditioning treatments and surface topography on the heparin adsorptivity and the thromboresistance of a high-strength, impermeable, isotropic, pyrolytic carbon were investigated. The results of the adsorption studies indicate that the adsorption of heparin on such carbon surfaces is near the amount required for monolayer formation. The adsorbed heparin is rapidly elutriated in plasma. The heparin adsorption is not enhanced by a pretreatment with benzalkonium chloride. There was no relationship between the amount of heparin adsorbed on these materials and their compatibility with blood. Polishing, for example, which reduced heparin adsorption, enhanced the tromboresistance of these carbons, and while chemisorption of oxygen markedly reduced their thromboresistance, it did not influence the amount of heparin that could be adsorbed. In vivo tests showed that polished and outgassed, impermeable isotropic carbons deposited at low temperatures were significantly thromboresistant without the exogenous application of heparin. Examples of applications of these new materials in experimental valves are presented.
    Additional Material: 11 Ill.
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  • 8
    ISSN: 0021-9304
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine , Technology
    Notes: Flexible and rigid epoxy and urethane polymers containing heparin chemically and uniformly incorporated throughout and/or ionically complexed to quaternized amine grops were prepared and shown to have excellent thromboresistance in vitro and in vivo. These heparin-modified polymers were implanted into the vena cava of dogs and successfully passed multiple acute (2 hr) and chronic (2 week) exposure periods. It was also demonstrated that the chemically coupled heparinized epoxies had no measurable adverse effects on blood cells, platelets, or plasma proteins, and that the heparin was not extractable. Significantly, epoxies containing polyoxypropylene/polyoxyethylene glycol (an additive which had no thrombus-inhibiting properties of its own) also exhibited excellent thromboresistance when characterized in vivo in dogs. The applicability of these various materials for the fabrication of circulatory assist device components was demonstrated. The effect of polymer polarity, surface charge, and conductivity were investigated with indeterminate results and unmodified commercial polymers uniformly exhibited poor clotting characteristics. In vitro clot-inhibiting characteristics were shown to be a sufficient, but not necessary, condition for indicating in vivo thromboresistant activity in polymer systems.
    Additional Material: 11 Ill.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 0021-9304
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine , Technology
    Notes: The influences of the conditioning treatments, surface topography, and crystal structure of carbonaceous surfaces on their ability to sorb heparin and their in vivo compatibility with blood were investigated. The results of the sorption studies indicated that the adsorption of heparin on the surfaces of turbostratic and graphitic materials is not crystallographically selective and that the amount adsorbed on relatively smooth surfaces is near the amount expected for monolayer formation. Although the adsorption of heparin on relatively smooth carbon surfaces is not influenced by the presence of benzalkonium chloride, the sorption of heparin in porous carbons can be greatly increased by a pretreatment with benzalkonium chloride. This increase was found to be due to the formation and entrapment of the insoluble heparin-benzalkonium complex in the accessible porosity. Since the heparin sorptions in Dag-154 coatings were found to be enhanced by a pretreatment with benzalkonium chloride, it was inferred that these coatings contain accessible porosity and that their initial thromboresistance depends on the formation of the benzalkonium-heparin complex in pores. In vivo tests showed that polished and outgassed, impermeable isotropic carbons deposited at low temperatures were significantly thromboresistant without the exogenous application of heparin. There was no relationship between the amount of heparin sorbed on these materials and their compatibility with blood. Polishing, for example, which reduced heparin sorption, enhanced the thromboresistance of these carbons, and while chemisorption of oxygen markedly reduced their thromboresistance, it did not influence the amount of heparin that could be sorbed. Although the heparin-benzalkonium complex sorbed in a porous carbon conferred excellent thromoboresistance in a 2-hr test, the long-tern (14-day) compatibility was not as good as for carbon surfaces that were deposited at low temperatures and then polished and outgassed prior to implanting. In vivo tests of HTI carbon structures and annealed LTI carbons indicate that the blood compatibility of a turbostratic carbon is not significantly dependent on crystallite size, Le. Limited tests of surfaces that had a preponderance of c-faces oriented parallel to the blood-carbon interface at the surface suggest that orientations of this sort are better than others.
    Additional Material: 15 Ill.
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