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  • 1
    Electronic Resource
    Electronic Resource
    Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 902-905 
    Details
    ISSN: 1432-1076
    Keywords: Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. Conclusion It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051238
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  • 2
    Electronic Resource
    Electronic Resource
    Treatment of obstructive sleep apnoea using nasal CPAP in children with craniofacial dysostoses (1996)
    Springer
    Child's nervous system 12 (1996), S. 713-719 
    Details
    ISSN: 1433-0350
    Keywords: Sleep ; Sleep apnoea ; Treatment ; CPAP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied a group of children (aged 2.2–15 years) with craniofacial dysostosis and obstructive sleep apnoea to assess the use of nasal continuous positive airway pressure (n-CPAP) as a palliative form of treatment. A variable period of time was allowed for acclimatisation to n-CPAP (1 day to 2 months), depending on the patient. Patients were then admitted for their first CPAP trial. Baseline breathing difficulty and the effectiveness of n-CPAP were assessed by respiratory sleep studies. Successful results were obtained with n-CPAP in five of the eight patients, with marked clinical and polygraphic improvements of the respiratory pattern immediately after n-CPAP was established. Of the remaining three cases, one child needed a prolonged period of acclimatisation to the n-CPAP system, one was withdrawn from the study, and one failed to respond to n-CPAP and was found to have complete blockage of the upper airways as a result of enlarged adenoids. Our results confirm that n-CPAP can be tolerated even by young patients and can be effective, and that it may be a useful alternative palliative treatment for obstructive sleep apnoea in children with craniofacial syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366156
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Bacterial RNA polymerases: structural and functional relationships (1993)
    Springer
    World journal of microbiology and biotechnology 9 (1993), S. 403-413 
    Details
    ISSN: 1573-0972
    Keywords: DNA transcription ; evolution ; phage ; prokaryotes ; RNA polymerase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Abstract The essential role of DNA-dependent RNA polymerases in gene expression and the fact that the multimeric species are highly conserved throughout nature makes these enzymes a particular fascinating area of study. Here we shall review the conservation of structures and their relationship to function, especially in the multimeric eubacterial RNA polymerases, paying particular attention to the β core subunit and to recent studies of σ-factors of both the σ 70 and σ 54 families. We shall conclude with a brief consideration of phage-encoded RNA polymerases and phage-mediated modification of the host enzyme, and of the evolution of RNA-synthesising enzymes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00328028
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    Paper (German National Licenses)
    Fulltext
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