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  • 1
    Electronic Resource
    Electronic Resource
    Rosiglitazone short-term monotherapy lowers fasting and post-prandial glucose in patients with Type II diabetes (2000)
    Springer
    Diabetologia 43 (2000), S. 278-284 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Rosiglitazone, thiazolidinedione, insulin resistance, Type II diabetes, non-esterified fatty acids, efficacy.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The short-term efficacy, safety and tolerability of rosiglitazone were compared with placebo in patients with Type II (non-insulin-dependent) diabetes mellitus in a dose-ranging study.¶Methods. After a 2-week placebo run-in phase, 303 patients were randomly assigned to 8 weeks of treatment with twice-daily placebo or 2, 4 or 6 mg of rosiglitazone.¶Results. All rosiglitazone doses significantly reduced fasting plasma glucose compared with baseline. All rosiglitazone treatment groups showed significantly reduced peak postprandial glucose concentrations compared with baseline (p 〈 0.001) and with placebo (p 〈 0.0001) and reduced postprandial glucose excursion, without an increase in the area under the postprandial insulin concentration-time curve. Rosiglitazone at 4 and 6 mg twice daily prevented the increase in HbA1 c observed in the placebo group. C peptide and serum insulin concentrations were significantly reduced from baseline in all rosiglitazone treatment groups. In all rosiglitazone treatment groups, non-esterified fatty acids decreased significantly (p 〈 0.0001) and triglycerides did not change. Although total LDL and HDL cholesterol increased significantly in the rosiglitazone treatment groups, total cholesterol/HDL ratios did not change significantly. The proportion of patients with one or more adverse event was similar in all four treatment groups. No patient showed evidence of hepatotoxicity.¶Conclusion/interpretation. Rosiglitazone given twice daily significantly reduced fasting and postprandial glucose concentrations, C peptide, insulin and non-esterified fatty acids in Type II diabetic patients. The glucose-lowering effect of the 4-mg twice-daily dose of rosiglitazone was similar to that of 6-mg twice daily, suggesting that 4 mg twice daily should be the maximum clinical dose. [Diabetologia (2000) 43: 278–284]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050045
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  • 2
    Electronic Resource
    Electronic Resource
    Allelic association of microsatellites of 6p in Italian hemochromatosis patients (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 476-481 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hemochromatosis (HC) is an inherited disorder of iron metabolism and is frequently seen in Caucasians. The biochemical defect and the responsible gene are unknown, but the HC locus is closely linked to HLA-A on human chromosome 6 in the region 6p21.3. Although extensive studies have been performed in several populations, the precise location of the gene is still undefined. Linkage disequilibrium with HC has been detected for loci that are 3 cM apart: HLA class I and D6S105, which is located on the telomeric side of HLA-A. We have analyzed the inheritance of several multi-allele polymorphisms that map to 6p (D6S265, Y52, HLA-F, D6S306, D6S105, D6S464, D6S299) in 34 Italian HC families and in 17 unrelated patients. Significant association with HC was shown for alleles of multiple markers in the HLA-A region, for the distant marker D6S105, but not for the D6S299 marker at 4 cM from HLA-A on the telomeric side. HC status was unambiguously assigned to 70 affected and 63 unaffected chromosomes from family studies. Thirty five different haplotypes were found in 70 HC chromosomes when considering four markers most tighly associated with the disease. A predominant haplotype comprising alleles 1-3-1-8 (marker order D6S265, HLA-A, Y52, D6S105) accounted for 30% of the HC chromosomes and was absent in normals. A minority of other HC haplotypes could be related to the major haplotype by assuming single crossover events. Results of haplotype studies suggest a founder effect in the Italian population, as previously shown in Australian patients, and a possible common mutation shared with affected individuals of Celtic origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050076
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Allelic association of microsatellites of 6p in Italian hemochromatosis patients (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 476-481 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hemochromatosis (HC) is an inherited disorder of iron metabolism and is frequently seen in Caucasians. The biochemical defect and the responsible gene are unknown, but the HC locus is closely linked to HLA-A on human chromosome 6 in the region 6p21.3. Although extensive studies have been performed in several populations, the precise location of the gene is still undefined. Linkage disequilibrium with HC has been detected for loci that are 3 cM apart: HLA class I and D6S105, which is located on the telomeric side of HLA-A. We have analyzed the inheritance of several multi-allele polymorphisms that map to 6p (D6S265, Y52, HLA-F, D6S306, D6S105, D6S464, D6S299) in 34 Italian HC families and in 17 unrelated patients. Significant association with HC was shown for alleles of multiple markers in the HLA-A region, for the distant marker D6S 105, but not for the D6S299 marker at 4 cM from HLA-A on the telomeric side. HC status was unambiguously assigned to 70 affected and 63 unaffected chromosomes from family studies. Thirty five different haplotypes were found in 70 HC chromosomes when considering four markers most tighly associated with the disease. A predominant haplotype comprising alleles 1-3-1-8 (marker order D6S265, HLA-A, Y52, D6S 105) accounted for 30% of the HC chromosomes and was absent in normals. A minority of other HC haplotypes could be related to the major haplotype by assuming single crossover events. Results of haplotype studies suggest a founder effect in the Italian population, as previously shown in Australian patients, and a possible common mutation shared with affected individuals of Celtic origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02267070
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    What role do injuries play in the deaths of old people?
    Amsterdam : Elsevier
    Accident Analysis and Prevention 19 (1987), S. 225-230 
    Details
    ISSN: 0001-4575
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Architecture, Civil Engineering, Surveying , Psychology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0001-4575(87)90006-6
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status
    Amsterdam : Elsevier
    Molecular and Cellular Probes 7 (1993), S. 311-324 
    Details
    ISSN: 0890-8508
    Keywords: Lesch-Nyhan syndrome, PCR, fluorescence, carrier detection
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/mcpr.1993.1045
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the ΔF508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    Amsterdam : Elsevier
    Molecular and Cellular Probes 6 (1992), S. 353-356 
    Details
    ISSN: 0890-8508
    Keywords: Cystic fibrosis ; PCR ; fluorescence ; screening ; ΔF508
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0890-8508(92)90013-N
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Protection of uninfected human bone marrow cells in long-term culture from G418 toxicity after retroviral-mediated transfer of the NEO^r gene
    Amsterdam : Elsevier
    Experimental Cell Research 179 (1988), S. 168-180 
    Details
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-4827(88)90356-4
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 652-660 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched-chain α-ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N in the E1α gene, T841G and G1031A in the E2 gene) and two deletions (−G at the intron/exon border of exon 8 in the E2 gene and an 11 bp deletion in exon 1 of the E1β gene) using the polymerase chain reaction (PCR) followed by allele-specific oligonucleotide (ASO) hybridization, gene-scanning size analysis of fluorescent-tagged PCR products and/or automated DNA sequence analysis. Our results show that two different mutations account for 7 of the 20 mutant MSUD alleles. Two unrelated affected children, two of their parents and one sibling were carriers for the 11 bp deletion in the E1β gene, one patient and her mother were heterozygous for Y393N in E1α, while T841G, G1031A and the −G deletion in E2 were not detected. This study is the first attempt to characterize at a nucleic acid level MSUD mutations in Italy. Our results indicate that additional defects are present in the Italian population and that, unlike the Mennonites, a number of different MSUD mutations exist in Italians.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00712006
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    Paper (German National Licenses)
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