Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Microcephaly  (2)
  • Nephrosialidosis  (2)
  • Purkinje cells  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Pathological study on a severe sialidosis (α-neuraminidase deficiency) (1986)
    Springer
    Acta neuropathologica 71 (1986), S. 278-284 
    Details
    ISSN: 1432-0533
    Keywords: Severe sialidosis ; α-Neuraminidase deficiency ; Neuropathology ; Congenital ascites ; Nephrosialidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron microscope studies showed that neurons in the cerebral and cerebellar corticies, and the thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were found only in the neurons of the spinal cord. The neurons in the paraganglion and in the Auerbach's myenteric plexus were also distended with numerous membrane-bound vacuoles. Hepatocytes, endothelial cells and Kupffer cells in the liver and glomerular and tubular epithelial cells in the kidney were swollen with a number of vacuoles although the patient showed none of the clinical features of renal involvement. These pathological changes were similar to those in nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819–829 (1978)].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688050
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Cerebellar changes of the female mice heterozygous for brindled gene (1986)
    Springer
    Acta neuropathologica 69 (1986), S. 220-226 
    Details
    ISSN: 1432-0533
    Keywords: Brindled mouse ; Kinky hair disease ; Heterozygotes ; Purkinje cells ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The brindled mutation is an X-linked neurological mutation in mice. Male mice hemizygous for the brindled gene have metabolic defects homologous with kinky hair disease in humans. Neuropathologically, the mutation is characterized by extensive neuronal degeneration associated with pronounced mitochondrial changes in cerebral cortex and abnormal arborization of Purkinje cell dendrites, which are most pronounced in the rostral vermis or anterior lobules. In the cerebellum of female mice heterozygous for brindled gene, Purkinje cells with abnormal dendritic arborization and with unusually enlarged mitochondria were also observed. Morphological changes in affected Purkinje cells in young heterozygotes were similar to those of young hemizygotes. However, in older heterozygotes, the changes were far less conspicuous, indicating the presence of some extrinsic factor(s) to compensate expression of the mutant gene in heterozygous brains.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688297
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    The pathogenesis of abnormal cytoarchitecture in the cerebral cortex and hippocampus of the mouse treated transplacentally with cytosine arabinoside (1982)
    Springer
    Acta neuropathologica 58 (1982), S. 159-167 
    Details
    ISSN: 1432-0533
    Keywords: Cytosine arabinoside ; Mice ; Microcephaly ; Cerebral cortex ; Hippocampus ; Abnormal cytoarchitecture
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Pregnant mice were treated with cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Brains of the offspring were studied histologically. The matrix layer of the embryonic brains was extensively destroyed 12h after the injection of cytosine arabinoside, but regenerated partially on day 17 of gestation. In the cerebral cortex of 1-, 3-, and 5-day-old treated mice, abnormal clusters of young neurons were found on the surface of the developing cerebral cortex. Some clusters still had a supply of immature neurons from the remnants of the regenerated matrix layer. After 20 days, the clusters became gradually indistinct, although some vestigial groups of neurons were observed even after 120 days. In the hippocampus of young mice, the pyramidal cells decreased in number and were disarranged. Heterotopic pyramidal cell masses were found in the stratum radiatum and in the molecular layer of the dentate gyrus. Apical dendrites of pyramidal cells exhibited abnormal arborization. It was demonstrated by3H-thymidine autoradiography that young neurons in the abnormal clusters in the cerebral cortex were those produced in the matrix layer regenerated after the destructive change by cytosine arabinoside.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690796
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Maturation of Purkinje cells in mouse cerebellum after neonatal administrations of cytosine arabinoside (1978)
    Springer
    Acta neuropathologica 44 (1978), S. 41-45 
    Details
    ISSN: 1432-0533
    Keywords: Cytosine arabinoside ; Cerebellum ; External granular layer ; Purkinje cells ; Synaptogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary ICR-JCL strain mice were injected subcutaneously with 30 mg/kg body weight of cytosine arabinoside at 2, 3, and 4 days of age. This chemical prevented the production of the basket cells, stellate cells, and granule cells in the external granular layer of the cerebellum. Decrease in number of these microneurons affected the normal synaptic connections between the Purkinje cells and the microneurons, thus causing the disarrangement and abnormal arborization of the Purkinje cells. Of the three types of microneurons, the basket and a few stellate cells played a more important role in the disarrangement of the Purkinje cells and abnormal arborization of their primary dendrites than the granule cells did. Abnormal outgrowing directions of other smooth dendrites of the Purkinje cells were caused mainly by the diminution of stellate cells. Although parallel fibers were grossly decreased in number in the treated cerebellums, spines of the spiny dendrites of the Purkinje cells sprouted considerably in the 15-day-old mice, and then their morphological features remained even after 100 days of age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691637
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Heterotopia in microcephaly induced by cytosine arabinoside: hippocampus in the neocortex (2000)
    Springer
    Acta neuropathologica 100 (2000), S. 403-408 
    Details
    ISSN: 1432-0533
    Keywords: Key words Cytosine arabinoside ; Heterotopia ; Microcephaly ; Hippocampus ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pregnant mice were injected intraperitoneally with cytosine arabinoside (Ara-C) on days 13.5 and 14.5 of pregnancy. The brains of their offspring were studied histologically and histochemically. In addition to dysgenic microcephaly, nodular structures consisting of cells with a relatively homogeneous morphology were observed in the depths of the cerebral cortex. The cell clusters were first seen around postnatal day 4, and had a cellular continuity with the disarrayed pyramidal cell layer in the CA1 region of the hippocampus. Golgi-Cox staining showed a number of pyramidal-shaped cells in the clusters. Morphologically, they resembled the pyramidal neurons of the hippocampus. Immunohistochemical examination, using anti-serotonin or anti-tyrosine hydroxylase antibodies, also indicated similarities between the cell clusters and the pyramidal cell layer. It is, therefore, proposed that the cell clusters consisted of heterotopic pyramidal cells of the hippocampus. A few synaptic structures could already be detected in the heterotopic cell clusters on postnatal day 3 by electron microscopy. This early establishment of synaptic contact with related neurons may have caused the heterotopic localization of the pyramidal cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010000205
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    A severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1 (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 295-298 
    Details
    ISSN: 1432-1076
    Keywords: β-Galactosidase ; α-Neuraminidase ; Sialidosis ; Nephrosialidosis ; GM1-Gangliosidosis type 1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We observed a 3-month-old Japanese female infant with severe psychomotor retaration, coarse facial appearance, hepatosplenomegaly, and dysostosis multiplex. Only β-galactosidase was found to be deficient when the routine lysosomal hydrolase assay was performed on the patient's lymphocytes at 6 months of age. At first GM1-gangliosidosis type 1 seemed the most likely diagnosis. Later, however, additional studies (hydrolase assay in cultured skin fibroblasts, urinary oligosaccharide analysis, genetic complementation study, etc.) revealed that biochemical data of this case were in agreement with those of severe infantile sialidosis. The only important exception was that α-neuraminidase in the patient's lymphocytes showed normal activity but abnormal pH dependence toward 4-methylumbellyferyl substrate. In addition, a severely damaged kidney suggested that his case may be classified as a unique type of severe infantile sialidosis (possible nephrosialidosis). These observations stress the importance of careful biochemical diagnosis of a case with GM1-gangliosidosis type 1 phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442667
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...