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  • Articles: DFG German National Licenses  (3)
  • 1
    ISSN: 1432-0533
    Keywords: Key words High serum creatine kinase values ; Cylindrical spirals
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are a nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: High serum creatine kinase values ; Cylindrical spirals
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are a nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-198X
    Keywords: Key words Hemolytic uremic syndrome ; Cerebral hypoxia ; Magnetic resonance imaging ; Central nervous system lesions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We report a 20-month-old girl with post- diarrheal (Shiga toxin) hemolytic uremic syndrome and severe encephalopathy. Magnetic resonance (MR) images were obtained in the acute phase of the disease and after 10 months. The first MR images showed widespread high signal intensity on T2-weighted and low signal intensity on T1-weighted images, in deep and subcortical white matter; the splenium of the corpus callosum was also involved, as well as cerebellar hemispheres. Neurological symptoms and signs gradually disappeared within 35 days. Follow-up MR imaging showed almost complete resolution of the previous findings, and the patient recovered without central nervous system impairment. The neurological lesions were probably due to hypoxia, although several other mechanisms could be involved, such as metabolic derangements and the action of Shiga toxin. In spite of the dramatic clinical manifestations, we observed a good outcome, indicating that patients with similar lesions do not necessarily have a poor prognosis.
    Type of Medium: Electronic Resource
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