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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 71 (2000), S. 411-415 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Kufs ; Neuronale Zeroidlipofuszinose ; Demenz ; PET ; MRT ; Key words Kufs disease ; Neuronal ceroid lipofuscinosis ; Dementia ; PET ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The case of a 35-year-old man with progressive dementia from the age of 17 is presented. Clinical examination showed mild extrapyramidal and cerebellar signs and rare myoclonus. Neuropsychological evaluation disclosed severe cognitive deficits. Magnetic resonance imaging (MRI) revealed moderate generalized atrophy with abnormal iron deposition in the basal ganglia. Positron emission tomography (PET) with 18-fluorodeoxyglucose (18-FDG) demonstrated clear temporoparietal hypermetabolism. The clinical symptoms and course are typical for the rare adult type of neuronal ceroid lipofusconoses (Kufs' disease). The diagnosis is supported by the electron microscope detection of an abnormal accumulation of lipid vacuoles and lipofuscin in the eccrine sweat glands and the rectal ganglia cells.
    Notes: Zusammenfassung Berichtet wird der Fall eines 35-jährigen Patienten mit langsam progredienter Demenz seit dem 18. Lebensjahr. Zum Zeitpunkt der Untersuchung fielen klinisch eine leichtgradige extrapyramidale und zerebelläre Symptomatik sowie seltene Myoklonien auf, während die neuropsychologische Testung ausgeprägte kognitive Defizite ergab. Die kraniale Magnetresonanztomographie zeigte eine mäßige globale Atrophie und eine abnorme Eisenablagerung in den Basalganglien. In der Positronenemissionstomographie mit 18-FDG war ein deutlicher temporoparietaler Hypometabolismus erkennbar. Klinik und Verlauf sind typisch für die seltene adulte Variante der neuronalen Zeroidlipofuszinosen (Kufs-Typ). Diese Diagnose wird gestützt durch den elektronenmiroskopischen Nachweis abnormer Akkumulationen von Fettvakuolen und Lipofuszinablagerungen in den ekkrinen Schweißdrüsen der Haut und in den rektalen Ganglienzellen.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 85 (1961), S. 66-71 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Die Untersuchung des Gehaltes an azurgranulierten und nichtgranulierten Lymphocyten von 174 Proben venösen und capillaren Blutes infektionskranker Kinder hat erneut einen engen Zusammenhang der azurgranulierten Lymphocyten mit immunologischen Vorgängen wahrscheinlich gemacht. Die Zählung des Anteils azurgranulierter Zellen aus mindestens 200 Lymphocyten ergibt eine für wissenschaftliche Zwecke ausreichende Genauigkeit.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2307
    Keywords: Key words E-cadherin ; Colorectal cancer ; Immunohistochemistry ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  E-cadherin, a transmembrane cell adhesion molecule, has been observed to have an altered pattern of immunoreactivity in several types of carcinomas. In lobular breast cancer, loss of immunoreactivity has been shown to be due either to out-of-frame deletions or to nonsense mutations of the E-cadherin gene. We analysed 29 cases of completely resected colon carcinoma with immunohistochemistry using the HEC-D1 antibody. Normal protein expression similar to that in the adjacent nonmalignant mucosa was seen in 6 cases, whereas 23 tumours had reduced or absent E-cadherin expression. In the 8 cases with no expression of E-cadherin revealed by immunohistochemistry, the entire E-cadherin cDNA sequence was analysed. In these cases, sequence analysis failed to reveal any cDNA mutations despite the negative immunohistochemistry. Possible explanations for this discrepancy include regulatory defects in the E-cadherin promoter, abnormalities at the translation or protein processing levels and mutations in other parts of the gene that were not investigated by the cDNA analysis (e.g. intronic sequences), which could play a role in causing abnormal processing of the E-cadherin protein.
    Type of Medium: Electronic Resource
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