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  • 1
    Electronic Resource
    Electronic Resource
    Bruck syndrome: neonatal presentation and natural course in three patients (1998)
    Springer
    Pediatric radiology 28 (1998), S. 781-789 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are presented. In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are reminiscent of osteogenesis imperfecta (OI) even with white sclerae, normal dental quality and normal hearing as important clinical negatives. The diagnosis was made before two years of age in two, and in adolescence in the third patient. The latter's radiologically documented long-term natural course reveals slow progressivity of osteopenia and growth deficiency, worsening tendon contractures and pterygia in addition to increasing spine and pelvis deformation. Mental development remains normal. Bruck syndrome is monogenic and probably due to homozygosity of an as yet unidentified gene. As no alteration in the collagens I and III is detected and molecular screening reveals no mutation in the COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050465
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Placental alkaline phosphatase in developing normal and abnormal gonads and in germ-cell tumours (1990)
    Springer
    Virchows Archiv 417 (1990), S. 67-72 
    Details
    ISSN: 1432-2307
    Keywords: Placental alkaline phosphatase ; Germ cells ; Embryo ; Chromosome anomalies ; Germcell tumours
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The evolution of the gonads during intra-uterine development has been followed by immunohistochemical demonstration of placental-like alkaline phosphatase (PLAP) at the germ-cell level. PLAP immunopositivity was restricted to the limited period when germ cells were not surrounded by granulosa or Sertoli cells. Abnormal fetuses or neonates presenting with chromosomal anomalies frequently had disorganized gonads where germ cells retained their membrane PLAP immunopositivity. This abnormal immunopositivity is similar to that expressed by abnormal germ cells in testicular in situ carcinoma, in gonadoblastoma (case of 45,XO/ 46,XY mosaic) and in seminoma. The pattern of positivity for other germ-cell tumours was highly variable. We suggest that in abnormal gonads, dysgenetic or neoplastic, an early embryonic property is retained by abnormal germ cells. Its importance in the process of neoplastic induction remains to be defined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01600111
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    Paper (German National Licenses)
    Fulltext
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