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  • 1
    Electronic Resource
    Electronic Resource
    Neurofibromatosis tumor and skin cells in culture (1984)
    Springer
    Acta neuropathologica 63 (1984), S. 269-275 
    Details
    ISSN: 1432-0533
    Keywords: Neurofibromatosis ; Cell culture ; Cell surface ; Cytoskeleton ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Structural proteins of cultured neurofibromatosis (NF) tumor and skin cells were studied with reference to control skin fibroblasts. In polyacrylamide gel electrophoresis (PAGE)/fluorography the banding patterns of the cell lysates were markedly similar. NF tumor cells, however, produced a 60 kD band with a stronger and a 48 kD band with a lighter protein staining and metabolic labeling intensity. Furthermore, skin cells were also characterized by a 26 kD protein and the tumor cells by a 22 kD protein with high metabolic labeling intensity. Neuraminidase/galactose oxidase/NaB3H4-labeled NF skin and control skin cells possessed a 220 kD protein that was less intensively labeled in the tumor cells. The banding pattern of the skin cells was also characterized by a protein with slightly lower molecular weight (86 kD) than that of the tumor cell lysates (90 kD). In all cell lines studied indirect immunofluorescence stainings revealed bright arrays of vimentin type intermediary filaments but no desmin, cytokeratin, glial fibrillary acidic protein (GFAP), or neurofilament proteins. NF skin and control skin cells possessed well developed actin-containing bundles of microfilaments, while those of the tumor cells lacked a typical stress-fiber organization. The general morphology of the tumor cell cultures was also irregular. Transmission electron microscopy revealed no basic differences in the structure of intermediary filaments or microfilaments. The present data provide basic knowledge of neurofibromatosis skin and tumor cells and demonstrate that cultured cells originating from neurofibromas are defective in both their intracellular and extracellular organization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687332
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  • 2
    Electronic Resource
    Electronic Resource
    Characterization of the perivascular reticulin network in a case of primary brain lymphoma (1985)
    Springer
    Acta neuropathologica 66 (1985), S. 299-305 
    Details
    ISSN: 1432-0533
    Keywords: Perivascular reticulin network ; Primary brain lymphoma ; Collagen ; Laminin ; Fibronectin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The character of the silver positive reticulin network was analyzed with immunofluorescence and immunoperoxidase methods in an intra vitam diagnosed case of primary brain lymphoma. The network was shown to contain connective tissue proteins rich in hexose-sugars, such as type III collagen (classical “reticulin”), basal lamina constituents type IV collagen and laminin, pericellular type V collagen, as well as fibronectin (protein involved in cell adhesion). On the other hand, very little of the fibrous type I collagen was discernible. Similarly as the silver positive network, the immunohistochemically demonstrable reticulum seemed to hold the cells in the perivascular location, and once it was broken diffuse spread into the tissue occurred. Since malignant cells of B-lymphocyte origin are not known to synthesize so-called reticulin, it is suggested that the network in primary brain lymphomas is produced by cells in the brain parenchyma (possibly pericytes or astrocytes) as a protective attempt to restrict the spread of foreign cells into the brain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690962
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  • 3
    Electronic Resource
    Electronic Resource
    Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography (1996)
    Springer
    Journal of inherited metabolic disease 19 (1996), S. 729-734 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), an autosomal recessive disease, affects skeletal muscle in addition to the eye. Muscle biopsy samples show prominent type 2 muscle fibre atrophy. Atrophic fibres also contain accumulations of tubular aggregates in electron microscopy. To evaluate skeletal muscle involvement in detail, the thigh muscles of 7 patients with GA were examined using semi-open conchotome muscle biopsies, computed tomography (CT) and ultralow-field magnetic resonance imaging (MRI) at 0.02 T. In MRI, the T1 and T2 proton relaxation times were measured. Type 2 muscle fibre atrophy was found in all biopsy samples (100%) and tubular aggregates in 6 of the 7 samples studied (87%). The CT density of the muscle tissue was increased in the only child of the study, decreased in 3 elderly subjects, and normal in the remaining 3 patients. Mean T1 relaxation times of the patients were decreased (135±5 ms) as compared to those of 6 healthy controls (157±12 ms) (p=0.002). The T2 relaxation time was slightly increased (40±3 ms) as compared to the controls (35±7 ms; not significant,p=0.3). Our findings suggest that the thigh muscles of the patients with GA universally show changes in CT and MRI studies, but relaxation time measurements gave little additional information on the muscle metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799162
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  • 4
    Electronic Resource
    Electronic Resource
    Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency (1997)
    Springer
    Journal of inherited metabolic disease 20 (1997), S. 719-720 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005399131620
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  • 5
    Electronic Resource
    Electronic Resource
    Oral lysine feeding in gyrate atrophy with hyperornithinaemia – A pilot study (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 305-307 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005638004530
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  • 6
    Electronic Resource
    Electronic Resource
    Varicella and varicella immunity in patients with lysinuric protein intolerance (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 103-111 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with lysinuric protein intolerance (LPI) had near-fatal generalized varicella infection with severe interstitial pneumonitis, hepatitis, decreased platelet count, bleeding and hypoalbuminaemia. Active haemolysis resulted in anaemia and massive haemoglobinuria. Serum lactate dehydrogenase activity and ferritin concentration, which in patients with LPI in normal circumstances exceed the upper reference values 3-fold to 10-fold, increased to 〉10 000U/L and 〉10 000 µg/L, respectively. The patients were treated with fresh frozen plasma, red-cell transfusions and intravenous acyclovir for 14 days, and recovered clinically in a month. Retrospectively, 3 of the 32 other known Finnish patients with LPI had had varicella infection that had been more severe than that in the other children in the family or in subjects in the neighbourhood and had led to hospital admission. Varicella antibodies were measured in 24 patients; 5 had no antibodies and 5 had very low antibody titres. Primary vaccination of three patients with living varicella vaccine increased antibody titres measurably in one patient. We suggest that patients with LPI who have no varicella zoster antibodies should be treated with acyclovir if exposed to varicella and should be (re)vaccinated against chickenpox.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005335423939
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  • 7
    Electronic Resource
    Electronic Resource
    Metabolism of collagen in aspartylglycosaminuria: Urinary excretion of hydroxyproline (1984)
    Springer
    Journal of inherited metabolic disease 7 (1984), S. 117-121 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation characterized by severe mental retardation and connective tissue alterations. We have previously described low collagen production in skin fibroblast cultures from AGU patients. In the present work we showed that the urinary excretion of hydroxyproline (total, non-dialysable and free hydroxyproline as indicators of collagen metabolism) was reduced in young AGU patients in comparison with age-matched controls. In adult patients no significant difference was detected. The results support the view that reduced collagen production is associated with the connective tissue abnormalities in this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01801767
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  • 8
    Electronic Resource
    Electronic Resource
    Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 855-866 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), a genetically determined deficiency of ornithine {3}d-aminotransferase activity leads to high ornithine concentrations in body fluids. GA is characterized by centripetally progressing retinal and choroidal destruction and selective atrophy with tubular aggregates in type II skeletal muscle fibres. These findings have been suggested to be mediated by hyperornithinaemia-induced deficiency of high-energy creatine phosphate. As abnormal brain magnetic resonance images and electroencephalograms are found in another disorder of creatine metabolism, guanidinoacetate methyltransferase deficiency, we investigated the central nervous system involvement in GA, which seems to be associated with a milder degree of phosphocreatine deficiency. We compared 23 untreated GA patients with age-matched healthy controls, and with 9 patients who had received creatine or creatine precursor supplementation daily for several years. The mean age of the patients (32±18 years) was similar to that of the controls (36±22 years). The MRI or EEG findings of the patients on creatine supplementation did not differ from those of the untreated group. Brain MRI revealed degenerative lesions in the white matter in 50% of the GA patients, and 70% of the patients had premature atrophic changes, with a striking increase in the number of Virchow's spaces. Of the patients whose EEG was recorded, 58% had abnormal slow background activity, focal lesions or high-amplitude β rhythm (〉50μV). The EEG findings were not associated with the MRI changes or with the age or the sex of the patients. Early degenerative and atrophic brain changes and abnormal EEG are thus features of GA, in addition to the well-characterized eye and muscle manifestations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005602405349
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  • 9
    Electronic Resource
    Electronic Resource
    Metabolism of collagen in aspartylglycosaminuria: Decreased synthesis by cultured fibroblasts (1982)
    Springer
    Journal of inherited metabolic disease 5 (1982), S. 197-203 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fibroblasts from patients with aspartylglycosaminuria (AGU) and from age-matched healthy controls were studied in culture. The rate of synthesis of collagenous proteins was lower in AGU fibroblasts than in control cells despite the fact that the growth rates and growth patterns were similar. Qualitative differences in culture media proteins between AGU and control cultures were not revealed by gradient gel electrophoresis or by CM-cellulose chromatography after pepsin treatment. DEAE-cellulose chromatography of AGU culture media components showed that they contained more [3H]glucosamine-labelled glycoproteins than the control cultures Decreased collagen synthesis may explain the connective tissue symptoms (e.g. skeletal deformations and susceptibility to hernias) frequently present in AGU patients. Products from the incomplete intracellular degradation of glycoproteins can interfere with collagen synthesis in AGU. Aspartylglycosaminuria might thus provide a model for studying the regulation of collagen synthesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02179141
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  • 10
    Electronic Resource
    Electronic Resource
    Disturbed metabolism of copper and zinc in aspartylglycosaminuria: Possible involvement with connective tissue changes (1985)
    Springer
    Journal of inherited metabolic disease 8 (1985), S. 212-218 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In aspartylglycosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, there are some abnormalities in collagen and proteoglycan metabolism. Because of earlier observations suggesting a disturbance of copper balance, the metabolism of copper and zinc was studied in more detail to find out if possible trace metal disturbances could be correlated with connective tissue disorder. Highly elevated copper concentrations in the hair and significantly reduced zinc levels in serum and urine were detected in AGU patients indicating a disturbance of trace element balance. However, the patients had normal serum copper levels, and the concentrations of zinc and copper in cultured fibroblasts did not differ from those of control cells. Normal lysyl oxidase activities in cell culture indicate that collagen cross-link formation is not affected. The changes in copper and zinc balance are probably secondary to the basic enzyme deficiency, and may contribute to the development of the clinical signs and symptoms of AGU although the mechanisms involved are not yet understood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805438
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