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Summary A 26-year old male suffered from Abetalipoproteinemia (Bassen-Kornzweig disease). In addition to C.N.S. lesions, he had myopathy. A muscle biopsy revealed accumulation of ceroid pigment in the striated muscle. A few muscle fibers showed severe degeneration of the myofibrils. Fibroblasts and macrophages in the interstitial tissue contained abundant ceroid. The relation between ceroid accumulation, abetalipoproteinemia and vitamin E-deficiency is discussed.This study was supported by the United States-Israel Binational Science Foundation 相似文献
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Summary A 21/2 year old girl who, since the age of 1 year presented, a progressive psychomotor retardation. A cortical biopsy appeared normal by light microscopy, but by electron microscopy an abundance of dilated spheroid-like axons were found. They contained either vesiculo-tubular material or densly packed filamentous material. Synapses were demonstrated between the spheroids and other neuronal bodies or dendrites. Crystalline like material was observed within mitochondria and the spheroids. It is suggested that Neuroaxonal dystrophy may be diagnosed by cortical brain biopsy.
Zusammenfassung Ein 21/2 Jahre altes arabisches Mädchen (Eltern Cousins 2. Grades) bot seit dem 1. Lebensjahr progressive psychomotorische Retardierung. Eine Hirnrindenbiopsie ergab normale lichtoptische Verhältnisse, während elektronenoptisch reichlich schollenartige Axonauftreibungen gefunden wurden. Ihr Inhalt setzte sich aus vesico-tubulärem Material oder aus dicht gepacktem filamentösen Material zusammen. Synapsen waren zwischen den Sphäroiden und anderen neuronalen Somata sowie Dendriten nachweisbar. In den Mitochondrien und Sphäroiden fanden sich kristalline Strukturen. Es wird vermutet, daß die neuroaxonale Dystrophie durch Rindenbiopsie diagnostiziert werden kann.相似文献
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Circular dichroism spectra of trypsin-chymotrypsin inhibitors from soybeans and chickpeas have been determined in acidic, neutral and highly alkaline solutions. Neither protein contains α-helix although a small amount ofβ-structure cannot be excluded. Negative dichroism above 250 nm has been assigned largely to disulfide bonds in both molecules with neither showing evidence for tyrosine residues buried in hydrophobic regions. The spectra of these inhibitors between 230 and 250 nm have been compared with the spectra of a number of structurally related proteins suggesting that previous interpretations of this region may have been incomplete or incorrect. 相似文献
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BACKGROUND: Breast hamartoma is an unusual, well-circumscribed, tumor-like mass entering into the differential diagnosis of benign breast disease. To the authors' knowledge, the cytology of these lesions has not been well described. Although fine-needle aspiration is a well established procedure for the detection of breast carcinoma, its utility in classifying benign breast disease is less clear. METHODS: Fine-needle aspirates from eight patients with histologically proven hamartomas were reviewed. None of the cases had a preoperative fine-needle aspiration diagnosis of hamartoma. Cytologic characteristics were retrospectively evaluated in a semiquantitative manner and compared with the histologic findings. RESULTS: The aspirates were moderately cellular and contained sheets of both bland ductal cells and lobular units. Adipose tissue was present in varying amounts. Bipolar stromal nuclei were readily apparent, whereas intact stromal fragments were less prominent. Cytologic atypia was uniformly absent. CONCLUSIONS: The cytology of breast hamartomas shows considerable overlap with other benign breast disease and is unlikely to be interpreted as malignant. The findings of intact lobular units and a relative paucity of stroma in an aspirate from a well circumscribed breast lesion may suggest the diagnosis of hamartoma. 相似文献
16.
A significant part of the morbidity in elderly men involves pelvic organs and their autonomic neural regulation. Environmental stimuli also impair the structure and function of pelvic organs. One of these factors is citral, a widely-used cosmetic fragrance constituent, which causes severe prostatic hyperplasia in rats. In this study, we assessed the effect of topical administration of citral (30 days) on the morphology of pelvic ganglia (PG) in young adult and old Wistar rats. Neuronal vacuolar degeneration with preserved nuclei of PG neurons was observed in untreated senescent, but not young rats. Citral significantly increased the rate of vacuolated neurons in old rats (from 3 to 14%), but only slightly in young ones (from 0 to 0.5-0.3%). Similar lesions were not found in inferior cervical or celiac ganglia, in either group. This shows that environmental stimuli enhance age-related processes of vacuolar neuronal degeneration in PG, and may contribute to the dysfunction of pelvic organs in the elderly. 相似文献
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Familial myoedema, muscular hypertrophy and stiffness 总被引:1,自引:0,他引:1
A father and son with muscular hypertrophy, stiffness and myoedema are described. The local swelling after tapping the muscle was not accompanied by electrical activity. Histological and histochemical studies of muscle biopsy showed no abnormalities. Electron-microscopy showed multiple vacuoles to be due to T-tubule dilatation. Further studies are necessary to determine the significance of this finding in the pathogenesis of muscle sensitivity to mechanical irritation in this rare syndrome. 相似文献
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