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  • 1
    Electronic Resource
    Electronic Resource
    An acromesomelic dysplasia with epi-metaphyseal involvement: a new entity (1993)
    Springer
    European radiology 3 (1993), S. 83-85 
    Details
    ISSN: 1432-1084
    Keywords: Acromesomelic ; Epiphyseal dysplasia ; Metaphyseal dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A unique acromesomelic epimetaphyseal dysplasia with presumed dominant inheritance has been observed in a 15-year-old male with normal stature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00173530
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  • 2
    Electronic Resource
    Electronic Resource
    Osteoporosis — Pseudoglioma syndrome: report of threee brothers (1995)
    Springer
    European radiology 5 (1995), S. 463-466 
    Details
    ISSN: 1432-1084
    Keywords: Osteoporosis ; Pseudoglioma ; Osteogenesis imperfecta
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three sibs with osteoporosis-pseudoglioma syndrome (OPS) are described. Two older boys were diagnosed as osteogenesis imperfecta. In the younger boy OPS was recognised at first consultation. This syndrome radiologically simulates osteogenesis imperfecta. These two conditions can be easily differentiated if associated clinical and ophthalmological features are taken into consideration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00184964
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  • 3
    Electronic Resource
    Electronic Resource
    A clinically mild case of mucopolysaccharidosis type I —Scheie syndrome (case report) (1995)
    Springer
    European radiology 5 (1995), S. 561-563 
    Details
    ISSN: 1432-1084
    Keywords: Scheie syndrome ; Mucopolysaccharidosis I ; Dysostosis multiplex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 5-year-old boy presented with prominent chest, clavicles and scapulae. Restricted movements in his large joints and neck were noted. A skeletal survey showed changes of mild dysostosis multiplex. His mental development was normal. Biochemical studies were consistent with the clinical diagnosis of Scheie syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208355
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  • 4
    Electronic Resource
    Electronic Resource
    Dysplasia cleido-facialis (1970)
    Springer
    European journal of pediatrics 108 (1970), S. 331-338 
    Details
    ISSN: 1432-1076
    Keywords: Dysplasia cranio-facialis ; Microphthalmia ; Microcephalia ; Hypoplasia clavicularum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurden zwei Schwestern, 8 bzw. 5 Jahre alt, beschrieben, die neben einem mikrocephalen Schwachsinn, eigenartige Gesichtsveränderungen sowie eine Clavicularhypoplasie aufweisen. Das Zustandsbild muß von der Dysostosis eleido-cranialis unterschieden werden. Die Verfasser haben keine vergleichbaren Mitteilungen in der Literatur gefunden. Sie glauben, daß es sich hier um ein eigenes Syndrom handeln dürfte. Sie möchten dieses als erbbedingt auffassen und am ehesten einen einfach-recessiven Erbgang vermuten.
    Notes: Abstract Two sisters 8 and 5 years old with unusual head, specifically face changes and clavicular hypoplasia are described. The authors think that these girls present a new hitherto not described syndrome with recessive type of inheritance. The importance of differenciating this syndrome from cleido-cranial dysplasia is stressed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445635
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  • 5
    Electronic Resource
    Electronic Resource
    Dysplasia metaphysaria, Typ Vaandrager-Pena (1970)
    Springer
    European journal of pediatrics 108 (1970), S. 165-170 
    Details
    ISSN: 1432-1076
    Keywords: Dwarfism, Disturbance of Ossification ; Dysplasia metaphysaria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A report is given on a 10 year old girl with dwarfism, disturbances of metaphyseal ossification, which were localised especially in the distal metaphyses of the long bones and metaphyses of the tubular bones; the biochemical tests were normal. This girl shoewed similar radiographic changes as patients described by Vaandrager and Pena. In the authors' opinion it is a new entity, different from all hitherto known well-defined types of metaphyseal dysplasia. The eponyme Vaandrager-Pena is proposed for this rare but well defined type of metaphyseal dysplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439883
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  • 6
    Electronic Resource
    Electronic Resource
    International classification of osteochondrodysplasias (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 407-415 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959352
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  • 7
    Electronic Resource
    Electronic Resource
    Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 308-311 
    Details
    ISSN: 1432-1076
    Keywords: Key words Mesomelic dysplasia ; Periostitis ; Radio-humeral dislocation ; Osteoporosis Collagenopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. Electrophoresis of fibroblast collagens detected defects in type III and type V collagen. Conclusion Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051078
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  • 8
    Electronic Resource
    Electronic Resource
    Generalised bone disease with abundant periosteal reaction in megakaryocytic leukaemia (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 845-847 
    Details
    ISSN: 1432-1076
    Keywords: Key words Megakaryocytic leukaemia ; Periostitis ; Trisomy 21
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report an 18-month-old boy with trisomy 21 who presented with abundant, symmetrical periosteal hyperostosis and generalised osteolytic bone disease. Although adequate cytological and immunological studies have not been performed, the clinical course, routine blood and marrow studies allowed us to recognise megakaryoblastic leukaemia (ML) as the cause of these unique X-ray appearances. Conclusion We present a unique case of generalised bone disease in an infant with trisomy 21. The appearances – clinical course and radiographic appearances – are consistent with ML. Such severe bony changes have not yet been reported in this association. This observation widens the spectrum of ML
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050726
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  • 9
    Electronic Resource
    Electronic Resource
    Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 809-814 
    Details
    ISSN: 1432-1076
    Keywords: Key words Spondylo-epimetaphyseal dysplasia ; Mental retardation ; X-linked inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. Conclusion These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051211
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  • 10
    Electronic Resource
    Electronic Resource
    Review article: the therapeutic potential of 5-HT3 receptor antagonists in the treatment of irritable bowel syndrome (1999)
    Oxford, UK : Blackwell Science Ltd
    Alimentary pharmacology & therapeutics 13 (1999), S. 0 
    Details
    ISSN: 1365-2036
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: There is evidence from studies, in both animals and humans, that 5-HT3 receptor blockade has potential value in the treatment of irritable bowel syndrome, particularly in those patients with diarrhoea-predominant bowel habits. New findings suggest that 5-HT3 receptors exist on gut afferent neurones and that their activation by locally released 5-HT leads to visceral nociceptive stimulation, in addition to increased neuronally-mediated motor and secretory activity. If this concept is validated, it will provide a rationale for the use of 5-HT3 receptor antagonists in patients with increased gut motility, reduced fluid absorption and low nociceptive thresholds leading to abdominal pain.Alosetron is a highly selective, potent 5-HT3 receptor antagonist which is well absorbed with a long pharmacodynamic half-life. Its ability to provide long-lasting blockade of 5-HT3 receptors throughout the body make it an ideal candidate within its class to evaluate the clinical hypothesis that sustained and ubiquitous 5-HT3 receptor blockade is of value in the treatment of IBS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2036.1999.00003.x-i2
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