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  • 11
    Digitale Medien
    Digitale Medien
    Springer
    Archives of orthopaedic and trauma surgery 119 (1999), S. 470-473 
    ISSN: 1434-3916
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The cardinal feature of Maffucci syndrome is the coexistence of enchondromatosis and vascular anomalies. The patients are usually normal at birth, the disease becoming evident at any time up to puberty. Association of soft-tissue swelling has been described in this syndrome but has not been listed as a sign or symptom. We report three cases in which the initial sign was diffuse swelling of the dorsum of the hand and/or foot. This was noticed at birth in cases 1 (girl) and 3 (girl) and at the age of 1 month in case 2 (boy), who otherwise appeared normal except for case 3 who had a rectovestibular fistula. The pathology of the swollen soft tissue was adipose tissue associated with various degrees of thickened and fibrotic septum containing dilated lymphatic channels. These dilated channels within the septum were so subtle that they were initially overlooked in cases 1 and 2. Awareness that swelling of the dorsum of the hand or foot can be the sole sign and symptom of Maffucci syndrome before the typical indications become evident helps the physician establish an early diagnosis of this condition.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 12
    Digitale Medien
    Digitale Medien
    Oxford [u.a.] : International Union of Crystallography (IUCr)
    Acta crystallographica 46 (1990), S. 414-417 
    ISSN: 1600-5759
    Quelle: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Thema: Chemie und Pharmazie , Geologie und Paläontologie , Physik
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 13
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric radiology 26 (1996), S. 59-61 
    ISSN: 1432-1998
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We report the case of a 10-year-old boy with typical manifestation of Hajdu-Cheney syndrome. MRI demonstrated syringohydromyelia involving almost the entire spinal cord, although neurological symptoms had not yet developed. Syringohydromyelia is considered to be a sequel to progressive basilar invagination and is one of the essential features of this rare osteolytic bone dysplasia.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 14
    ISSN: 1432-2161
    Schlagwort(e): Key words Calvarial doughnut lesion ; Fibro-osseous lesion ; Bone fragility ; Undermodeling ; Jaw infection ; Osteogenesis imperfecta
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 15
    Digitale Medien
    Digitale Medien
    Springer
    Protoplasma 192 (1996), S. 11-19 
    ISSN: 1615-6102
    Schlagwort(e): Double mutant ; Exocytosis ; Paramecium caudatum ; Secretory mutant ; Trichocyst
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie
    Notizen: 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.
    Materialart: Digitale Medien
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