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  • Electron Microscopy  (3)
  • Curvilmear, Finger-Print Inclusions  (1)
  • Diaphragmatic defect  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Un cas de dystrophie neuroaxonale infantile ou maladie de Seitelberger (1971)
    Springer
    Acta neuropathologica 18 (1971), S. 327-341 
    Details
    ISSN: 1432-0533
    Keywords: Infantile Neuroaxonal Dystrophy ; Electron Microscopy ; Striated Muscle ; Membranous-Tubular Structures ; Filamentous Structures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This paper deals with the first ultrastructural study of muscle fiber in a child affected by infantile neuroaxonal dystrophy or Seitelberger's disease. In a first step, diagnosis was performed by light and electron microscopy in biopsy and autopsy findings in central and peripheral nervous system. Muscle fiber and axonal changes are very similar. The ultrastructure findings in muscle fiber are as follows: 1. neural atrophy, 2. overproduction of membrano-tubular structures related to sarcoplasmic reticulum hyperplasia, 3. filamentous aggregates by presumed overproduction of myofilaments, 4. overproduction of abnormal mitochondria. These changes, already described in various muscular diseases, are not specific; they seem related to an abnormal muscle fiber reaction in close association to dystrophic axonal endings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688446
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Étude clinique, histologique et ultrastructurale de quatre cas de leucodystrophie métachromatique infantile et juvénile (1972)
    Springer
    Acta neuropathologica 21 (1972), S. 23-38 
    Details
    ISSN: 1432-0533
    Keywords: Leucodystrophy Metachromatic ; Electron Microscopy ; Prismatic Deposits ; Brain ; Peripheral Nerve ; Kidney ; Rectum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical history, light and electron microscopy findings are reported in four cases of infantile metachromatic leucodystrophy. By electron microscopy, the authors describe the various types of lesions and the different lipid deposits noticed in the central and peripheral nervous system, in the kidney and rectum. They stress the prismatic lipid deposits observed not only in the cerebral white matter and in the kidney but in the peripheral nerves as well.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687997
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Infantile neuroaxonal dystrophy or Seitelberger's disease (1974)
    Springer
    Acta neuropathologica 28 (1974), S. 261-267 
    Details
    ISSN: 1432-0533
    Keywords: Neuroaxonal Dystrophy ; Infantile Autonomi Nervous System ; Electron Microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The autonomic nervous system is studied by electron microscopy for the first time in two siblings born of North African consanguineous parents and affected by infantile neuroaxonal dystrophy. The changes already reported in dystrophic axons of the central and peripheral nervous system, are seen in the myenteric plexus of rectum mucosa. The authors stress the diffuse involvement of the nervous tissue in this degenerative disorder of still unknown nature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00719031
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Céroïde-lipofuscinose neuronale (1974)
    Springer
    Acta neuropathologica 28 (1974), S. 353-359 
    Details
    ISSN: 1432-0533
    Keywords: Familial Céroïd-Lipofuscinosis ; Batten Disease ; Late Infantile Amaurotic Idiocy ; Consanguinity ; Curvilmear, Finger-Print Inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The authors report histochemical and electron mciroscopic data of brain biopsies in two cases of Battern's disease. The siblings affected, a male and a female, are born from consanguineous North African parents. The diagnosis of Ceroïd-Lipofuscinosis is supported by neuro-glial, endothelial and perithelial autofluorescent cell storage. By electron microscopy the abnormal cytosomes show both curvilinear and finger-print profiles; their lysosomal nature is supported by their obvious acid phosphatase activity. These lipopigment cytoplasmic inclusions are compared with those described in senile brains and in other cases of Batten's disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685289
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Epidemiological study of congenital diaphragmatic defects with special reference to aetiology (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 726-729 
    Details
    ISSN: 1432-1076
    Keywords: Diaphragmatic defect ; Prenatal diagnosis ; Aetiology ; Malformation ; Chromosomal anomaly ; Genetic syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The prognosis depends mainly on the severity of fetal lung hypoplasia but is also linked to the associated malformations. We report on 77 cases of CDD ascertained between 1982 and 1988 from 136 161 consecutive births in the Bouches du Rhône area. The spontaneous perinatal mortality rate was 61% with 28 early post-natal deaths and 14 stillbirths. Eight pregnancies were terminated after prenatal diagnosis. The diaphragmatic defect was associated with other congenital anomalies in 33 cases, more often among stillborn (92.8%) than liveborn infants (23.6%). A chromosomal abnormality was present in 9 cases representing 11.6% of all CDD and in 27.2% of cases with other anomalies. A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). This study underlines the necessity of a systematic work up of prenatally diagnosed cases, including fetal karyotyping and analysis of associated malformations in order to adapt the management of the pregnancy and delivery to the prognosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958765
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    Paper (German National Licenses)
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