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  • 1
    ISSN: 1432-2161
    Keywords: Key words Calvarial doughnut lesion ; Fibro-osseous lesion ; Bone fragility ; Undermodeling ; Jaw infection ; Osteogenesis imperfecta
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Objective. To report examples of disorders characterized by bone fragility, calvarial and/or gnathic fibro-osseous lesions, and metadiaphyseal undermodeling of the tubular bones. Design. The clinical, radiological, and pathological features of two patients are described and the literature reviewed. Patients. The patients comprised a 10-year-old boy and a 48-year-old woman. The former exhibited multiple fractures starting in early childhood and calvarial masses which developed in late childhood; the latter showed a mandibular mass. Results. Calvarial doughnut lesions, osteopenia with coarse bony trabeculae, and undermodeling of the lower limbs were radiologically demonstrated in the first patient, while multiple sclerotic foci in the maxilla and mandible, spontaneous bowing of the right femur, and minimal undermodeling of the tibiae were demonstrated in the second. Bone biopsy of the iliac crest in the first patient revealed histologically normal bony trabeculae. Bone histomorphometry suggested an increased osteoid surface. Osteoid volume was also slightly increased. The pathological findings of the mass in the jaw in the latter patient were consistent with it being a fibro-osseous lesion. The literature review revealed several patients whose features overlapped with those of our patients. Conclusion. These patients may represent a group of fragile bone syndromes which differ from osteogenesis imperfecta.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Protoplasma 192 (1996), S. 11-19 
    ISSN: 1615-6102
    Keywords: Double mutant ; Exocytosis ; Paramecium caudatum ; Secretory mutant ; Trichocyst
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Two trichocyst-nondischarge (TND) mutants ofParamecium caudatum, tndl andtnd2, are unable to discharge the trichocyst matrix (tmx) in response to chemical stimuli, although they contain many docked trichocysts at predetermined sites in the cortex. Freeze-fracture electron microscopy (FEM) of the plasma membrane showed thattndl possess two typical intramembrane particle arrays at the trichocyst docking site in the cortex, the outer ring and the inner rosette, as observed in wild-type (WT) cells, whereastnd2 possess the ring but not the rosette. The tmx of both TND mutants are able to expand when they are freed and exposed to an extracellular medium containing 1.5 mM Ca2+. When mutant cells were treated with ionophore A23187 and Ca2+, tmx-expansion took place intnd2, but not intndl cells. Thetnd2 mutant could be rescued by an injection of the WT cytoplasm and also by partial cell fusion during conjugation with the WT andtndl cells. However, the secretion capacity oftndl was not restored either by a microinjection of the WT cytoplasm or by the conjugating pair formation. Freeze-fracture electron microscopy on the double homozygote fortndl andtndl genes, revealed only the parenthesis instead of the ring and the rosette, indicating that trichocysts do not dock to the cortical site. Double mutation at thetndl andtndl loci caused a decrease in the number of the trichocysts at the cortical site. These results suggest that cooperative action of the two TND genes is necessary for stable docking of the trichocysts to the cortical sites.
    Type of Medium: Electronic Resource
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