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  • 1
    Electronic Resource
    Electronic Resource
    Ocular microangiopathy in familial amyloidotic polyneuropathy, type I (1992)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 230 (1992), S. 1-5 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To obtain precise information on ophthalmological manifestations in patients with familial amyloidotic polyneuropathy (FAP), we performed ophthalmological and histopathological studies on 18 FAP patients and 6 asymptomatic individuals with a mutant transthyretin (TTR) gene. The incidence of vascular abnormalities of the conjunctiva and retina was surprisingly high in FAP patients. Abnormal conjunctival vessels were found mainly in the limbal area of FAP patients, but not in asymptomatic individuals with a mutant TTR gene. Conjunctival biopsy of 5 FAP patients and autopsy of another 2 FAP patients revealed that a significant amyloid deposit could be recognized in the superficial substantia propria of the conjunctiva and wall and perivascular area of the conjunctival vessels in all cases, a finding that is of diagnostic value. As for the retinal vessels, an abnormal arteriovenous ratio (A/V ratio), tortuous retinal vessels, cotton wool exudates and retinal hemorrhages were found in FAP patients. However, histopathological analysis of the retina in two autopsied cases revealed only a trace amount of amyloid deposit aruund the retinal vessels. Ophthalmological examination of three patients with pandysautonomia revealed that the appearance of both the conjunctival and retinal vessels of these patients was similar to that in FAP patients. These results indicate that in FAP patients ocular microangiopathy may be related to autonomic dysfunction as well as amyloid deposit.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00166754
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  • 2
    Electronic Resource
    Electronic Resource
    High single-dose alternate-day corticosteroid regimens in treatment of polymyositis (1985)
    Springer
    Journal of neurology 232 (1985), S. 175-178 
    Details
    ISSN: 1432-1459
    Keywords: High single-dose alternate-day corticosteroid therapy ; Polymyositis ; Side-effects of corticosteroid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary High single-dose alternate-day prednisolone therapy (ADT) was compared with daily-dose prednisolone therapy (DDT) for treatment of polymyositis. Thirty patients with polymositis were treated with ADT for an average of 33.9 months. The combined number of improvements was 21 out of 30, a response rate of 70%. Side-effects were very rare and mild. On the other hand, 9 of 17 patients treated with DDT for an average 18.5 months improved, a response rate of 53%. The incidence of side-effects was strikingly higher than with ADT. ADT is therefore strongly advocated for treatment of polymyositis to avoid infectious complications and lessen cushingoid side-effects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313897
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Transgenic mouse model for human genetic diseases (1993)
    New York, NY [u.a.] : Wiley-Blackwell
    Molecular Reproduction and Development 36 (1993), S. 248-250 
    Details
    ISSN: 1040-452X
    Keywords: Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/mrd.1080360222
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  • 4
    Electronic Resource
    Electronic Resource
    Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization (1986)
    Springer
    Journal of human genetics 31 (1986), S. 243-248 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The human prealbumin gene was tried to map by the analysis of gene dose effects on Southern hybridization bands of various chromosome 18 abnormalities. The32P-labeled probe “pPA1” which contains the prealbumin cDNA hybridized to an 11 kb and a 4.6 kbHind III-fragments from cells each of which has a different chromosome 18 constitution. Autoradiograms (hybridization bands) for pseudodicentric 18 (trisomy of almost whole of a chromosome 18) showed 1.5-fold density compared with those of the normal diploid. Autoradiograms for trisomy for 18q21.3-qter and monosomies for 18p11.2-pter and for 18q21.1-q21.3 were all not different in density from those of the diploid control. Our results provide evidence for regional assignment of this gene to 18p11.1-q12.3, most likely to cen-q12.3.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01870754
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Genetic basis for familial amyloidotic polyneuropathy (1986)
    New York, NY : Wiley-Blackwell
    BioEssays 4 (1986), S. 208-212 
    Details
    ISSN: 0265-9247
    Keywords: Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Medicine
    Notes: Familial amyloidotic polyneuropathy (FAP) is an inherited systemic amyloidosis, characterized by the extracellular deposition of fibrillar amyloid protein, i.e. a variant type of prealbumin, and by prominent peripheral nerve involvement. We recently established the basis of FAP, using a cloned human prealbumin cDNA, restriction endonuclease(s) and Southern blot procedures. This approach clearly revealed a direct link between mutation in the prealbumin gene and FAP; individuals with FAP are heterozygous for the prealbumin gene, carrying one normal and one mutant gene. Molecular analysis of the prealbumin gene yielded pertinent data on the genetic basis for FAP.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/bies.950040506
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    Paper (German National Licenses)
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