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  • 1
    Electronic Resource
    Electronic Resource
    Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy (1970)
    [s.l.] : Nature Publishing Group
    Nature 226 (1970), S. 553-554 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] There are clinically different types of metachromatic leucodystrophy. There is a late infantile type with onset between 2 and 4 years and death in the first decade of life, and a juvenile type with onset between 12 and 16 years and death in adulthood. These seem to be genotypically distinct and ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/226553a0
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  • 2
    Electronic Resource
    Electronic Resource
    Bruck syndrome: neonatal presentation and natural course in three patients (1998)
    Springer
    Pediatric radiology 28 (1998), S. 781-789 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are presented. In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are reminiscent of osteogenesis imperfecta (OI) even with white sclerae, normal dental quality and normal hearing as important clinical negatives. The diagnosis was made before two years of age in two, and in adolescence in the third patient. The latter's radiologically documented long-term natural course reveals slow progressivity of osteopenia and growth deficiency, worsening tendon contractures and pterygia in addition to increasing spine and pelvis deformation. Mental development remains normal. Bruck syndrome is monogenic and probably due to homozygosity of an as yet unidentified gene. As no alteration in the collagens I and III is detected and molecular screening reveals no mutation in the COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050465
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  • 3
    Electronic Resource
    Electronic Resource
    Skin and conjunctival biopsies in infantile neuroaxonal dystrophy (1979)
    Springer
    Acta neuropathologica 45 (1979), S. 247-251 
    Details
    ISSN: 1432-0533
    Keywords: Infantile neuro-axonal dystrophy ; Skin ; Conjunctiva ; Spheroids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significantly to the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702677
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  • 4
    Electronic Resource
    Electronic Resource
    Fetal Krabbe leukodystrophy (1981)
    Springer
    Acta neuropathologica 53 (1981), S. 87-91 
    Details
    ISSN: 1432-0533
    Keywords: Fetal Krabbe leukodystrophy ; Galactosyl-ceramide-β-galactosidase ; Globoid cells ; Spinal cord ; Peripheral nerves
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-β-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific melusions are probably non-glial in nature, some of them could represent myelination glia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00689987
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  • 5
    Electronic Resource
    Electronic Resource
    I-cell disease (1984)
    Springer
    Acta neuropathologica 64 (1984), S. 234-242 
    Details
    ISSN: 1432-0533
    Keywords: I-Cell disease ; Pathology of CNS ; Mesenchymal cells ; N-Acetylglucosamine-1-phosphotransferase ; Genetic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The results of postmortem examinations in four I-cell disease (ICD) patients, 2 weeks, 8.5 months, 4 and 10 years of age, respectively, are compared and evaluated. The most characteristic histological feature in ICD is the storage of membrane-bound vacuoles with fibrillo-granular contents in fibroblasts and of smaller inclusions with concentric ring-like profiles in endothelial cells. In older patients only, more heterogeneous cell inclusions with osmiophilic lamellar profiles may be found. The morphological lesions in the central nervous system (CNS) are hardly significant. Obvious abnormalities are present in the heart valves of even the very young patients, while alterations in the renal glomeruli are less severe in the long surviving patient. This difference may be viewed as histological confirmation of the proved genetic heterogeneity in ICD. The paradox of cell type-specific morphological findings on the one hand and the generalized deficiency of N-acetylglucosamine-1-phosphotransferase representing the primordial enzyme deficiency in ICD on the other, is resolved by postulating, outside the mannose-6-phosphate recognition marker targeting system, the existence of alternative mechanisms for distribution and processing of lysosomal enzymes in cells other than fibroblasts or endothelial cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688114
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  • 6
    Electronic Resource
    Electronic Resource
    I-Cell disease (Mucolipidosis II) (1975)
    Springer
    Acta neuropathologica 33 (1975), S. 285-305 
    Details
    ISSN: 1432-0533
    Keywords: I-cell disease ; Membrane-bound vacuoles ; Fibroblasts ; Mucopolysaccharidoses ; Mucopolipidoses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The single most characteristic morphological feature in I-cell disease (ICD) is the accumulation of membrane-bound vacuoles in mesenchymal cells (mainly fibroblasts). No true storage can be documented in those vacuoles. That their contents could have been dissolved during fixation or embedding remains however a possibility. Remnants consisting of a few lamellar arrays and of small amounts of fibrillo-granular material are too scarce for histochemical characterization. In hepatocytes large cells in the white pulp of the spleen and in myocardial fibers, vacuoles with fixative insoluble contents have been discovered; they are nowhere very abundant and their specificity is questionable. Because the affected fibroblastic elements represent a small fraction in any organ, most secondary biochemical abnormalities are expected to be detectable only in purely fibroblastic tissues. Our pathological study contributes to the understanding of some of the clinical features characteristic of ICD and stresses major morphological differences between ICD and the many diseases classified as mucopolysaccharidoses and mucolipidoses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00686161
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  • 7
    Electronic Resource
    Electronic Resource
    Deficiency of neuraminidase in the sialidoses and the mucolipidoses (1980)
    Springer
    Human genetics 〈Berlin〉 53 (1980), S. 383-388 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Neuraminidase activity in cultured fibroblasts from patients either with various forms of sialidosis or with I-cell disease (ICD) or mucolipidosis (ML) III has been determined by both a colorimetric and a fluorometric method. The former applied to frozen fibroblast pellets demonstrated a specific deficiency of neuraminidase in patients with the sialidoses. The enzyme was also deficient in I-cells, as were other lysosomal hydrolases. With the fluorogenic substrate these data could be confirmed and extended, and elementary kinetics of neuraminidase studied. In unfrozen freshly harvested fibroblasts, neuraminidase activity was severalfold that in frozen aliquots. A comparative and simultaneous study could not reveal substantial differences between the residual neuraminidase activity found in the various clinical forms of sialidosis. And, in fibroblasts from patients with ICD, also called ML II, the deficiency of this enzyme is quantitatively similar to that in the sialidoses, but the residual activity in ML III is three times higher. In both ML II and ML III the defect is probably secondary to the unknown metabolic error.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00287060
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  • 8
    Electronic Resource
    Electronic Resource
    Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II) (1979)
    Springer
    Human genetics 〈Berlin〉 47 (1979), S. 305-317 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Isozymes of N-acetyl-β-D-hexosaminidase in body fluids, culture medium, postmortem organs, and cultured fibroblasts from patients with I-cell disease were resolved by ion exchange column chromatography. The elution pattern was compared in detail with that of the isozymes in control samples. This approach revealed no qualitative differences between the isozymes from the two sources. There is a relative increase of the neuraminidase-sensitive components of hexosaminidase in I-cell disease. This phenomenon is probably related less to the unknown primary defect of the disorder than to the quantitative change in the distribution of hexosaminidase components between the intra-and the extracellular compartment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00321023
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  • 9
    Electronic Resource
    Electronic Resource
    The delivery of genetic counseling services in Europe (1980)
    Springer
    Human genetics 〈Berlin〉 56 (1980), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281565
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  • 10
    Electronic Resource
    Electronic Resource
    Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 650-652 
    Details
    ISSN: 1432-1076
    Keywords: Key words Fungal aneurysm ; Familial mucocutaneous candidiasis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An embolism had originated from a mycotic aneurysm located in the internal carotid artery. For several months prior to admission he had been suffering from therapeutically resistant candidiasis of the mouth and nails. Family history revealed chronic mycotic infections of the skin, hair, nails and mouth in the father and paternal grandmother suggestive of chronic mucocutaneous candidiasis with autosomal dominant mode of inheritance. Clipping of the aneurysm, after 3 months of anti-mycotic treatment, followed by sustained treatment with itraconazole and fluconazole, led to a favourable outcome. Conclusion Chronic mucocutaneous candidiasis can be associated with an intracranial aneurysm and complicated by cerebral infarction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051169
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