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  • 1
    Electronic Resource
    Electronic Resource
    World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker (1999)
    Springer
    Human genetics 〈Berlin〉 104 (1999), S. 126-129 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mild hyperhomocysteinemia is associated to mutations either in cystathionine ß-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes. In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients. Recently, this double mutation has been detected in Italian and North-American controls. Compared to a group of patients affected by coronary artery disease, North-American controls showed not statistically significant difference. Moreover, Italian controls displayed a microheterogeneity in the mutant allele frequency distribution depending on their geographical origin (North or South of Italy). Aim of our study was to evaluate the prevalence of the double in cis mutation in different populations. We studied 377 healthy subjects belonging to various human groups. Genomic DNA, extracted from peripheral blood samples, was amplified using specific primers; PCR fragments were digested with Bsr I restriction enzyme to detect the double mutation. Our data show a significant heterogeneity among the populations studied, therefore this mutation turned out to be a reliable anthropogenetic marker. The distribution of the double mutation will contribute, with other DNA polymorphisms, to evaluate the genetic admixture of mixed populations such as Afro-Americans
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050924
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  • 2
    Electronic Resource
    Electronic Resource
    Interleukin-6 and acute-phase proteins in head and neck cancer (1995)
    Springer
    European archives of oto-rhino-laryngology and head & neck 252 (1995), S. 159-162 
    Details
    ISSN: 1434-4726
    Keywords: Interleukin-6 ; Head and neck cancer ; Acute-phase response ; Fibrinogen ; C-reactive protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The acute-phase response is the answer of the organism to a disturbance of its homeostasis and is characterized by dramatic changes in the concentration of some plasma proteins defined as acute-phase proteins. In recent years several data have shown that interleukin-6 (IL-6) is the major inducer of acute-phase protein synthesis in human hepatocytes. Recently, we demonstrated higher IL-6 serum levels in head and neck cancer (HNC) patients than in healthy subjects. In the present study we examined the relationship between levels of IL-6 and of several acute-phase proteins, including C-reactive protein (CRP), α1-antitrypsin (AAT), αl-acid glycoprotein (AAG), haptoglobin (HPT) and fibrinogen. Eighteen patients were studied and had squamous cell carcinoma of the larynx (n = 9), oral cavity (n = 4), oropharynx (n = 3) and hypopharynx (n = 2). Proteins were measured at three time points before and three time points after surgery. Significant (P 〈 0.0001) relationships were found between IL-6 and CRP (r = 0.69), and fibrinogen (r = 0.51), whereas no correlation was found with AAT (r = 0.13, P = 0.56), AAG (r = 0.38; P = 0.07) and HPT (r = 0.16; P = 0.46). These data strongly suggest that IL-6 may play a key role in acute-phase protein synthesis in HNC and in regulation of the complex host response to malignancies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00178104
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  • 3
    Electronic Resource
    Electronic Resource
    Risk factors for cardiovascular disease in renal transplant recipients: new insights (2000)
    Springer
    Transplant international 13 (2000), S. S419 
    Details
    ISSN: 1432-2277
    Keywords: Key words Renal transplantation ; Cardiovascular disease ; Risk factors ; Hemostasis ; Homocysteine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Long-term survival of renal transplant recipients appears to be influenced by the occurrence of thromboembolic complications and cardiovascular disease. In order to investigate the prevalence of new hemostasis-related risk factors for venous and arterial thrombosis, we investigated 63 renal transplant recipients and 66 age- and sex-matched control subjects. We assayed antiphospholipid antibodies [lupus anticoagulant (LA) and anticardiolipin antibodies (aCL)], lipoprotein (a) [Lp(a)], plasminogen activator inhibitor-1 (PAI-1), and total homocysteine (tHcy) levels. We found a significantly higher prevalence of positivity for LA (P 〈 0.001); no difference was detected in the prevalence of aCL between patients and controls. PAI-1 levels were significantly higher in renal transplant recipients than in controls [12.3 IU/ml (2–45.5) vs 7.9 IU/ml (4–18.0); P 〈 0.0001] with an odd ratio (OR) of 11.8 (4.9–28.5) in univariate analysis and of 5.8 (2.1–15.4) in multivariate analysis. Lp(a) levels were higher in patients then in controls [159 mg/l (1–992) vs 100.5 mg/l (10–412); P 〈 0.005] with an OR of 5.9 (1.9–18.4) in univariate analysis and of 3.5 (0.9–13.4) in multivariate analysis. Fasting levels of tHcy were significantly higher in renal transplant recipients [7.0 μmol/l (4.0–68) vs 8.1 μmol/l (2.0–24.0); P 〈 0.00001] with an OR of 40.4 (14.7–111) in univariate analysis and of 33.1 (11.1–115.5) in multivariate analysis. After methionine loading test, we documented levels of tHcy above the 90th percentile of controls in 60/63 patients (95 %). Finally, we found a significant correlation between tHcy and PAI-1 plasma levels (r = 0.76; P 〈 0.000 001). Our results show a high prevalence of hemostasis-related risk factors for arterial and venous thrombosis in renal transplant recipients, suggesting the need for the investigation of these patients for the presence of these risk factors in order to improve their long-term survival and to tailor therapy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001470050375
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    Paper (German National Licenses)
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