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  • 1
    Electronic Resource
    Electronic Resource
    Orthotopic liver transplantation in hemophilia B: a case report (1995)
    Springer
    Transplant international 8 (1995), S. 485-487 
    Details
    ISSN: 1432-2277
    Keywords: Hemophilia B, liver transplantation ; Liver transplantation, hemophilia B
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Liver transplantation is a treatment modality that is being used with increasing frequency in cases of liver-based metabolic defects. This is a case report of a patient with hemophilia B who was treated since childhood with factor IX replacement for recurrent hemarthroses. Subsequent hepatitis B (HBV) and C (HCV) infection had resulted in the development of chronic active hepatitis, ultimately leading to cirrhosis. Orthotopic liver transplantation performed for endstage liver disease resulted in a rise in factor IX levels from 2% to 83% of normal values within 24 h post-operatively, and levels remained above 90% of normal values after postoperative day 3 without factor IX replacement. To our knowledge, only two cases of hemophilia B treated by orthotopic liver transplantation have been reported. This procedure has, however, only been implemented in cases of terminal liver insufficiency in hemophiliacs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00335602
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular analysis of the genotype-phenotype relationship in factor VII deficiency (2000)
    Springer
    Human genetics 〈Berlin〉 107 (2000), S. 327-342 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Factor VII (FVII) deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which clinical presentation is highly variable and correlates poorly with laboratory phenotype. The FVII (F7) gene was sequenced in 48 unrelated individuals with FVII deficiency, yielding a total of 23 novel lesions including 15 missense mutations, 2 micro-deletions, 5 splice junction mutations and a single base-pair substitution in the 5' untranslated region. Family studies were performed in order to distinguish the contributions of individual mutant F7 alleles to the clinical and laboratory phenotypes. Specific missense mutations were evaluated by molecular modelling in the context of the FVIIa-tissue factor crystal structure. Single base-pair substitutions in splice sites and the 5' untranslated region were studied by in vitro splicing assay and luciferase reporter gene assay, respectively. All probands were also typed for four previously reported F7 polymorphisms. In the majority of cases of FVII deficiency studied here, consideration of both mutational and polymorphism data permitted the derivation of plausible explanations for the FVII activity and antigen levels measured in the laboratory. Inter-familial variation in FVII activity and the antigen levels of heterozygous relatives of probands was found to be significantly higher than intra-familial variation, consistent with the view that the nature of the F7 gene lesion(s) segregating in a given family is a prime determinant of laboratory phenotype. Although no relationship could be discerned between laboratory phenotype and polymorphism genotype, the frequencies of the A2 and M2 polymorphic alleles were significantly higher in the FVII-deficient individuals tested than in controls. This suggests that the presence of these alleles may have served to increase the likelihood of pathological F7 gene lesions coming to clinical attention.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390000373
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Die Erzeugung von Kippentladungen mit extrem kleinen Strömen und ihre Anwendung in Gasentladungstrioden und in lichtgesteuerten Relaisröhren (1956)
    Springer
    Flow, turbulence and combustion 5 (1956), S. 309-312 
    Details
    ISSN: 1573-1987
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02070016
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Haemophilic; Arthropathy: Assessment of Quality of Life After Total Knee Arthroplasty (1999)
    Springer
    Clinical rheumatology 18 (1999), S. 468-472 
    Details
    ISSN: 1434-9949
    Keywords: Key words:Arthritis – Haemophilia – Health status
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract: The goal of this study was to examine how the known effects of total knee arthroplasty (TKA) on clinical outcome parameters translate into improved quality of life, as measured with validated condition-specific and generic questionnaires (Knee Society Score, WOMAC, SF-12, transition questions), addressing physical, mental and social health. Eleven patients (13 knees) undergoing TKA from 1986 to 1994, with the diagnosis of severe haemophilic arthropathy of the knee, were followed-up over a 4-year period on average. TKA was found to reduce the burden of disease to levels similar to patients with osteoarthritis undergoing hip arthroplasty. Clinical and functional improvement after TKA translated into a substantial and significant increase in quality of life and patient satisfaction, found in objective as well as in patient-perceived measures. However, the physical functional ability did not reach the same level as in the corresponding population not affected by haemophilia, due to residual symptoms and impairment of other joints.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100670050140
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    Paper (German National Licenses)
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