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  • 1
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Haemophilia B patients with factor IX (FIX) activity 〈 1% are usually characterized by severe bleeding episodes early in life. We report a case of sporadic severe haemophilia B, clinically characterized by mild bleeding diathesis. The presence of anamnestic thrombophlebitis in the patient’s mother prompted us to investigate a possible associated hypercoagulable condition. Resistance to activated protein C due to factor V R506Q mutation was present in the mother and in the propositus, in the homozygous and heterozygous form, respectively. Molecular analysis of the FIX gene led to the identification of a nonsense mutation resulting in a stop codon at position 50, previously described and usually responsible for a severe pattern of haemophilia B. The implications of this unusual association are discussed.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-7284
    Keywords: Atmospheric pollution ; Blood lead ; Car traffic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A study was conducted into the exposure to atmospheric pollution caused by car traffic by measuring blood lead (PbB) levels in a sample of 657 adult individuals (shopkeepers) all living in Liguria. The mean level of blood lead in all examined individuals was 9.39 µg dl−1 (0.45 µmol per liter; C.I. 95%: 9.06–9.75 µg dl−1; 0.44–0.47 µmol per liter) with a range between 2.0 and 46.03 µg dl−1 (0.10–2.22 µmol per liter). The average Pb values in individuals working in streets with high and very high traffic was 8.30 µg dl−1 (0.40 µmol per liter; C.I. 95%: 7.41–9.31 µg dl−1; 0.36–0.45 µmol per liter) and 9.98 µg dl−1 (0.48 µmol per liter; C.I. 95%: 9.62–10.37 µg dl01; 0.46–0.50 µmol per liter), respectively. These average blood lead levels were statistically greater than the average PbB values of those working in low traffic streets (7.06 µg dl−1; 0.34 µmol per liter; C.I. 95%: 6.22–7.94 µg dl−1; 0.30–0.38 µmol per liter).The percentile distribution (50th, 90th and 98th P) for all subgroups surveyed has always proved to be below the maximum limits specified by EC Directive No. 77/312.
    Type of Medium: Electronic Resource
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