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  • 1
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Endophthalmitis ; atypische Mykobakterien ; PCR ; Key words Endophthalmitis ; Atypical mycobacteria ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We report a case of a 60 year old male who presented with a therapy resistant endophthalmitis which led to an evisceratio bulbi. Histologically, a granulomatous inflammation was present, in which acid-fast bacilli could not be detected. Molecular genetic examination by means of polymerase-chain-reaction technique (PCR) of the routinely processed tissue material revealed the diagnosis of an atypical mycobacterial infection, because DNA specific for atypical mycobacteria was detected. This example shows that PCR technique provides a useful tool in the diagnosis of mycobaterial infections as an adjunct to surgical pathology.
    Notes: Zusammenfassung Es wird über einen 60 Jahre alten Mann berichtet, bei dem wegen einer therapieresistenten Endophthalmitis eine Evisceratio bulbi durchgeführt wurde. Eine histologische Untersuchung erbrachte eine granulomatöse Endophthalmitis, der Nachweis säurefester Stäbchen mit Hilfe der Ziehl-Neelson-Färbung war erfolglos. Mit der Polymerase-Chain-Reaction (PCR) ließen sich jedoch molekulargenetisch atypische Mykobakterien als Ursache der Endophthalmitis nachweisen.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 126 (1977), S. 61-75 
    ISSN: 1432-1076
    Keywords: Storage disease ; Ethanolaminosis ; Cardiomegaly ; Infantile cerebral dysfunction ; Diastase resistance ; Best-positive storage substance ; Glycogenosis-like disease ; Floppy infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A storage disease with cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, failure to thrive and early death is described in two siblings. The first one died at the age of 10 months, the second at the age of 17 months. The symptoms were mainly due to lysosomal storage of a substance which had a positive reaction to PAS and Best's stain and which was resistant to diastase. This substance was stored in nearly all the organs, especially in the heart, liver, spleen and less in the brain and skeletal muscles. An increased renal excretion of ethanolamine, a greatly increased hepatic concentration of ethanolamine and diminished hepatic ethanolamine kinase activity could be demonstrated. Ethanolamine is essential for the synthesis of phospholipids. Both parents showed increased renal excretion of taurine. In several aspects, this syndrome is similar to the glycogenosis type II described by Pompe.
    Type of Medium: Electronic Resource
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