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  • 2000-2004  (2)
  • 1980-1984  (1)
  • Rheumatoid arthritis  (2)
  • Hydroxymethylbilane synthase (HMBS)  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Relation of clinical activity of rheumatoid arthritis to immune complexes, complement components and anti-immunoglobulins (1984)
    Springer
    Rheumatology international 4 (1984), S. 159-163 
    Details
    ISSN: 1437-160X
    Keywords: Rheumatoid arthritis ; Immune complexes ; Anti-immunoglobulin ; Complement
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Circulating immune complexes by fluid phase Clq binding assay, complement components and anti-immunoglobulin levels were studied in sera of 35 patients with rheumatoid arthritis (RA). In 23 of the 35 sera (65.7%), circulating immune complexes were positive, and the mean±SD of Clq binding activity (ClqBA), 44.5±19.4%, was significantly high compared to that of healthy persons, 17.4±8.2%. Antigenic determination of complement components revealed that Clq, C3, C5, C9, factor B and Cl esterase inhibitor (CIINH) were significantly high in sera of RA, but C4 and properdin were not. The disease activity correlated with ClqBA, IgG- and IgM-anti-immunoglobulins, C9 and serum IgG. On the other hand, ClqBA correlated with both IgG- and IgM-anti-immunoglobulin levels but not with complement components.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00541207
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Quantification of bone volume on radiographs using NIH Image (2000)
    Springer
    Modern rheumatology 10 (2000), S. 220-224 
    Details
    ISSN: 1439-7609
    Keywords: Key words Radiograph ; Rheumatoid arthritis ; Bone volume ; NIH Image ; Computer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We attempted to quantify periarticular bone atrophy from radiographs of the proximal phalanx in patients with rheumatoid arthritis (RA) by means of the National Institutes of Health (NIH) Image computer program. The degree of brightness or darkness in four squares, each 20 × 20 pixels, in the right third proximal phalanx was measured using NIH Image, and the mean value of the 400 pixels was defined as the brightness/darkness index (BDI). The BDI was used to express bone volume. The BDI value was set at zero for an area of complete darkness and at 255 for an area of maximum brightness. The mean coefficient of variation in our hospital was 2.28%. The BDI was measured in 54 RA patients and 146 normal volunteers. The mean BDI at the midpoint of the diaphysis was 100 in RA patients and 176 in normal volunteers, while at the medial side of the proximal end it was 75 and 145, respectively. The difference between normal volunteers and RA patients was greatest in younger people. In some young RA patients, the BDI was significantly low at the medial side of the proximal end, clearly demonstrating periarticular bone atrophy. Periarticular bone atrophy can be quantified using the NIH Image computer program.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101650070006
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria (2000)
    Springer
    Journal of human genetics 45 (2000), S. 263-268 
    Details
    ISSN: 1435-232X
    Keywords: Key words Acute intermittent porphyria (AIP) ; Gene analysis ; Hydroxymethylbilane synthase (HMBS) ; Molecular pathology ; Mutations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we investigated the presence of mutations in two unrelated Japanese patients with AIP. Mutational analysis was performed using the polymerase chain reaction-single strand conformation polymorphism (SSCP) method, followed by DNA sequencing. Reliable restriction enzyme cleavage assays were also established for the pedigree analyses. Unique SSCP patterns were noted in exons 12 and 15 of the HMBS gene. Sequencing revealed different mutations in each patient: a two-base deletion of CT at nucleotide 730–731 (730delCT), and also a two-base deletion of CA at position 982–983 (982delCA). Both of the deletion mutations lead to truncated proteins with an abnormal C-terminus, which would be expected to decrease the stability and/or activity of HMBS. Using the cleavage assays, we were able to definitively identify gene carriers in the family. This study adds a novel mutation to those that have been previously reported, and emphasizes that molecular analysis would be very useful not only for the identification of asymptomatic gene carriers in the family but also for the detection of ancestral founders in porphyria families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070038
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    Paper (German National Licenses)
    Fulltext
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