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  • 1
    Electronic Resource
    Electronic Resource
    Isolated defect of peroxisomal β-oxidation in a 16-year-old patient (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 339-342 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisomes ; Inborn error ; Hepatosplenomegaly ; Psychomotor retardation ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (〉C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal β-oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal β-oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal β-oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956749
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  • 2
    Electronic Resource
    Electronic Resource
    The impact of EBV, proliferation rate, and Bcl-2 expression in Hodgkin's disease in childhood (1994)
    Springer
    Annals of hematology 68 (1994), S. 61-66 
    Details
    ISSN: 1432-0584
    Keywords: EBV ; Hodgkin's disease ; Proliferation Prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The role of Epstein-Barr virus (EBV) in the pathogenesis of Hodgkin's disease (HD) has not yet been clarified. Using RNA in situ hybridization (ISH) and immunohistochemistry (IHC), the occurrence of small Epstein-Barr virus encoded RNA (EBER) and latent membrane protein-1 (LMP-1) was studied in 22 tissue samples from 21 patients between 4 and 17 years of age with Hodgkin's disease. EBER was detected in eight of 21 patients (38%) in Hodgkin and Reed-Sternberg cells and reactive lymphocytes irrespective of initial clinical stage and histological subtype, whereas LMP-1, positive in ten of 21 patients (48%), was restricted to neoplastic cells. All cases positive for EBER expressed LMP-1 as well. Additionally, oncoprotein Bcl-2 was identified in nine of 21 patients (43%), indicating, besides immortalization of HD cells by EBV, a further growth advantage due to apoptosis prevention by overexpression of this protein. Proliferation-associated antigens Ki-S1 and Ki-S5 were highly expressed in Hodgkin and Reed-Sternberg cells. CD 30 antigen was found in most cases, using two different antibodies (90% and 80%). The presence of this protein, which belongs to the family of nerve growth factor receptor (NGFR), is related to high expression of Ki-67 protein, detected by Ki-S5. CD 20 antigen was detectable in only three of 21 patients (14%). If we compare results of ISH and IHC with clinical data, the occurrence of EBV genome in children with HD seems to have no adverse effect on the final outcome of these patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01715132
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  • 3
    Electronic Resource
    Electronic Resource
    First case of disseminatedMycobacterium avium infection following chemotherapy for childhood acute myeloid leukemia (1995)
    Springer
    Infection 23 (1995), S. 301-302 
    Details
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der Fall eines 14jährigen Mädchens indischen Ursprungs wird dargestellt, bei dem im Alter von 12 Jahren eine akute myeloische Leukämie (AML) diagnostiziert wurde. Die Chemotherapie mußte nach sechs Wochen wegen anhaltend hohen Fiebers und des Auftretens von Leber- und Milzabszessen abgebrochen werden. Serologische wie histologische Befunde sprachen für eine disseminierte Candida-Infektion; es fanden sich aber auch Granulome mit zentraler Verkäsung in der Leberbiopsie. Säurefeste Stäbchen konnten nicht nachgewiesen werden. Der Zustand der Patientin besserte sich unter fungistatischer Therapie, jedoch persistierten Fieberschübe und hohe Serumentzündungsparameter. Erst ein Jahr nach Manifestation der AML konnte eine Infektion mitMycobacterium avium aus Knochenmarksaspiraten diagnostiziert werden. Bei der Untersuchung der zellulären Immunität fand sich ein ausgeprägter Mangel an T-Lymphozyten und speziell an CD4-positiven Zellen. Eine Infektion mit HIV und anderen lymphotropen Viren konnte ausgeschlossen werden. Nach fünf Monaten spezifischer Therapie erholte sich die Patientin, sie ist in anhaltender Remission der AML. Opportunistische Infektionen wurden bisher bei onkologischen Patienten selten diagnostiziert; andererseits bietet die Literatur wenig Information über T-Zellfunktion bei AML. Bei Fieber unklarer Ursache müssen auch bislang selten diagnostizierte Infektionen in dieser Patientengruppe in Erwägung gezogen werden.
    Notes: Summary A 14-year-old girl of Indian origin with acute myeloid leukemia (AML) is presented, who was diagnosed at the age of twelve. Antileukemic chemotherapy had to be discontinued after 6 weeks because of persistent high fever and the emergence of liver and spleen abscesses. Serologic and biopsy findings were consistent with disseminated candidiasis; however, a liver biopsy also revealed granulomatous lesions with caseous degeneration. No acid-fast bacilli could be detected. Upon antifungal treatment the patient's condition improved, but fever spells and high inflammatory blood parameters persisted. One year after the diagnosis of AML was established,Mycobacterium avium was cultured from bone marrow aspirates. The patient's cellular immunity was severely compromised at that time as reflected by the marked depression of T-lymphocyte counts, in particular of CD4-positive cells. HIV and other lymphotropic virus infections were subsequently excluded. After 5 months of specific treatment the patient recovered from mycobacterial infection and remains in first remission of AML. Opportunistic infections have rarely been diagnosed in oncologic patients to date, while data on T-cell function in AML is sparse. Fever of unknown origin should prompt the search for infectious agents unusual to date in this patient group.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01716291
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    Paper (German National Licenses)
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