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  • 11
    ISSN: 1432-0533
    Keywords: Nasu-Hakola's disease ; Membranous lipodystrophy ; Axonal spheroids ; Membranocystic change ; Glio-myelin dissociation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) is reported. A 43-year-old Japanese man, whose parents were not consanguineous, had been suffering from frequent long bone fractures since the age of 10. Neuropsychiatric symptoms, which were characterized by euphoria, disturbance of attention and dementia, appeared at his thirties and generalized and/or localized seizures and apallial syndrome at the later stage. The neuropathology revealed diffuse leukoencephalopathy of the cerebrum. The peculiar aspects in this case were membranocystic changes in the lungs [Yagishita et al. Virchows Arch [A] 408:211–217 (1985)], diffuse degeneration of the cerebral cortex, chiefly in frontal and temporal lobes, and many axonal spheroids throughout the cerebral cortex. The ultrastructure of spheroids in the cerebral cortex demonstrated aggregations of mitochondria, dense bodies and minute concentric bodies and a small amount of neurofilaments.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 48 (1979), S. 27-30 
    ISSN: 1432-0533
    Keywords: Progressive supranuclear palsy ; Neurofibrillary tangles ; Ultrastructure ; Straight tubule ; Twisted tubule
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The fine structure of neurofibrillary tangles in the hippocampal gyrus, substantia nigra, pontine nuclei and locus coeruleus of the brain was postmortem studied in a case of progressive supranuclear palsy. Straight tubules and twisted tubules were observed in both the cortical and subcortical neurofibrillary tangles. Most tubules appeared separately in each neuron but a few straight tubules were mixed with the twisted tubules in the cortical tangles. The implication and possible significance of this findings are discussed.
    Type of Medium: Electronic Resource
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  • 13
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 37 (1977), S. 73-76 
    ISSN: 1432-0533
    Keywords: Corpora amylacea ; Lafora body ; Intraneuritic ; Glycogen granule ; Axonal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Deposits similar to corpora amylacea were observed by electron microscopy within myelinated axons in the peripheral nerves in a case of familial spastic paralysis. Ultrastructurally the deposits consisted of randomly interlacing short filaments which were closely related to glycogen granules present in the periphery of the deposits. A possible relationship between the filamentous structures and glycogen granules is discussed. The significance of this inclusion and of related bodies is also discussed.
    Type of Medium: Electronic Resource
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 54 (1981), S. 239-246 
    ISSN: 1432-0533
    Keywords: Alzheimer's disease ; Neurofibrillary Tangles ; Senile dementia ; Supranuclear palsy ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Alzheimer's neurofibrillary tangles were studied by electron microscopy. The study includes four cases of Alzheimer's disease, two cases of atypical senile dementia, and one case of progressive supranuclear palsy. In Alzheimer's disease the tangles were composed of either straight filaments or paired helical filaments. In progressive supranuclear palsy the tangles were composed of 15 nm straight filaments or helical filaments. A few straight filaments were mixed with paired helical filaments. In atypical senile dementia, both straight and paired helical filaments comprised the tangles and one type of filaments appeared to intermingle with the other in the same neurons.
    Type of Medium: Electronic Resource
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 74 (1987), S. 169-178 
    ISSN: 1432-0533
    Keywords: Cerebral gangliocytoma ; Parieto-frontal lobe ; Intracytoplasmic inclusion bodies ; No synapse ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report a case of cerebral gangliocytoma (GC) with a variety of unusual structures in the tumor cells. Light microscopically, the tumor consisted of typical ganglion cells, atypical cells which has argyrophilic granules in the cytoplasm, and a few astrocytes. Electron microscopically, the tumor cells showed typical gangliocytic features, which had abundant rough endoplasmic reticula, ribosomes and cored vesicles of 90–150 nm diameter, a few 50-nm-diametered non-cored vesicles, and other common organelles in their cytoplasm. Furthermore, neoplastic ganglion cells contained a variety of abnormal structures, including membranous cytoplasmic bodies (MCB), Zebra bodies (ZB), tubular structures, branched tubular structures (BTS), concentrical laminated bodies and curvilinear bodies (CB). The MCB, ZB and CB resembled those in GM2 gangliosidosis (GMG), and the BTS that in infantile neuroaxonal dystrophy (INAD). Although the significance of these inclusions is still unknown, it is considered that some common mechanism might play a role in the metabolism of both neoplastic neuronal cells and degenerating neurons (GMG and INAD). Synapses could not be observed anywhere despite complete neuronal differentiation of many tumor cells.
    Type of Medium: Electronic Resource
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 80 (1990), S. 671-679 
    ISSN: 1432-0533
    Keywords: Peroneal muscular atrophy ; Rigidity and tremor ; Autopsy ; Morphometry ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An autopsy case of hereditary peroneal muscular atrophy (PMA) with rigidity and static tremor is presented. The patient developed slowly progressive distal muscular atrophy of the legs at the age of 15 years. By the age of 52 years, PMA became marked associated with pes cavus, and tremor and rigidity of the extremities were noted. Motor and sensory conduction velocities gradually depressed and lost near the end of his life. At autopsy, the major neuropathological abnormalities involved the peripheral nervous systems, and were characterized by axonal atrophy and loss of myelinated fibres. These changes involved both the proximal and distal nerves, being more severely affected in the distal. The pathological changes in other regions of the nervous systems were mainly confined to the spinal cord, dorsal ganglia and spinal nerve roots, and pigmented neurons in the brain stem. Morphometrically, the total fascicular area was much smaller than in control, but the total number of myelinated fibers greatly outnumbered that of control 75 200 to 48 200 at the proximal sciatic nerve and then gradually decreased towards the periphery; however, even in the distal sural nerve, the total number of myelinated fibers exceeded that of control (6820 to 5469). Thus, the density of myelinated fibers were much higher, being 1.5 to 2 times greater, than in control. Its abrupt decline at the distal nerve might account for neurogenic atrophy of the distal musculature. Unmyelinated fibers were slightly increased in density and not atrophic. This case is unique in its clinicopathology and does not belong to any subtypes of PMA including “neuronal plus”.
    Type of Medium: Electronic Resource
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  • 17
    ISSN: 1432-0533
    Keywords: Alzheimer's neurofibrillary tangles ; Paired helical filaments ; Adrenal pheochromocytoma ; Antitau antibody ; Immunoelectron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Alzheimer's neurofibrillary tangles (NFT) and paired helical filaments (PHF) were found in the pheochromocytoma cells of the adrenal gland removed from a 54-year-old female. By electron microscopy they were identical to those found in the brains affected by dementia of Alzheimer type. In the tumor cells, most of the PHF were found dispersed loosely in the cytoplasm, while typical NFT were infrequent. By immunoelectron microscopy using peroxidase-antiperoxidase method, both NFT and dispersed PHF were stained positively with a polyclonal antiserum to human tau protein. This is the first observation of NFT and PHF in paraneuronal tumor cells. The patient has no obvious Alzheimer's disease.
    Type of Medium: Electronic Resource
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  • 18
    ISSN: 1432-0630
    Keywords: 78.70Bj ; 6630
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Abstract Positron annihilation spectroscopy has been applied to measure the free-volume hole distribution in poly(ether urethane) as a function of temperature. The hole radius distribution determined from orthopositronium lifetime distribution is found to shift to a larger values with increasing temperature. This result, combined with the variation of ionic conductivity, suggests that carrier ions do not migrate naked but are bound to polymer segments through ion-dipole interaction forces, and the ion migration is controlled primarily by segmental motion of the polymer.
    Type of Medium: Electronic Resource
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  • 19
    ISSN: 1432-1076
    Keywords: Key words Hirschsprung disease ; Receptor tyrosine kinase proto-oncogene ; Endothelin-B receptor ; Endothelin-3 ; Glial cell line-derived neurotrophic factor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on mutation analysis of five genes involved in the receptor tyrosine kinase (RET) or the endothelin-signalling pathways in 28 sporadic Japanese patients with Hirschsprung disease. Analysis of DNA obtained from peripheral blood cells revealed six mutations in the RET proto-oncogene, four of which were disease-causing mutations in exon 9 (D584G), the splice donor site of intron 10 (+2T to A), exon 11 (A654T), and exon 12 (T706A). A heterozygous A to G transition was found in 47 bases upstream from the 5′ end of exon 2 in two HD patients but was also seen in one control subject (2/28; 1/24). A silent 2307T to G transversion was observed in exon 13. Two disease-causing mutations were detected in the endothelin receptor (EDNRB) gene, in the non-coding region of exon 1 (−26 G to A) and in exon 4 (A301T); the latter mutation was a novel one. One silent mutation was observed in exon 4 (codon 277). One heterozygous T to C mutation was found in the glial cell line-derived neurotrophic factor gene in 25 bases upstream of the coding region in exon 1. No nucleotide changes were detected in either the endothelin-3 or neurturin genes. Disease-causing mutation rates in the RET proto-oncogene and the EDNRB gene were estimated at 14.3% (4/28) and 10.7% (3/28), respectively. In addition to mutations in the RET and EDNRB genes, embryonic environmental factors and/or other genetic factors appear to be involved in the development of Hirschsprung disease. Further systematic studies of genetic variation in a large series of patients and controls are necessary for elucidating the pathogenesis of this disorder. Conclusion This study provides further gene alterations as disease-causing mutations in Japanese cases of sporadic Hirschsprung disease. However, the low mutation rate of the susceptibility genes may indicate that Hirschsprung disease arises from a combination of genetic and environmental factors.
    Type of Medium: Electronic Resource
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  • 20
    ISSN: 1432-1076
    Keywords: Hashimoto thyroiditis ; Renal tubular acidosis ; Pernicious anaemia ; Encephalopathy ; Auto-immune disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of a 12-year-old girl with a multiple auto-immune disorder is reported. She showed Hashimoto thyroiditis which subsequently developed to hashitoxicosis and distal renal tubular acidosis at 5 years of age, pernicious anaemia at the age of 9 and severe encephalopathy at the age of 12. Laboratory studies revealed very high titres of anti-microsomal and anti-thyroglobulin antibodies and positive gastric parietal cell antibody. As to the encephalopathy, positive oligoclonal IgG bands and high values of IgG index and IgG synthesis ratio in CSF were observed with aggravation of her neurological symptoms. High-dose steroid therapy was effective toward the encephalopathy. Paediatricians should pay careful attention to patients with Hashimoto thyroiditis for association with other auto-immune disorders.
    Type of Medium: Electronic Resource
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