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  • Anal stenosis  (1)
  • CSF shunt  (1)
  • Key words Sacral dysgenesis  (1)
  • Treatment  (1)
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  • 1
    ISSN: 1432-1076
    Schlagwort(e): Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Child's nervous system 4 (1988), S. 164-165 
    ISSN: 1433-0350
    Schlagwort(e): Haemophilus ; Meningitis ; CSF shunt
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Haemophilus influenzae is an uncommon pathogen in shunted patients and there is uncertainty about optimal management. We report here two cases which were managed differently, with different outcomes. The first case was treated with chloramphenicol and the shunt was not removed. Although there were subsequent episodes of respiratory infection, the outcome was satisfactory. The second case was treated with cefuroxime and the shunt was exteriorized. Re-shunting was followed by relapse and further shunt removal. This and other case reports suggest that in Haemophilus meningitis in shunted patients treatment need not involve shunt removal, but that this is so only if appropriate antimicrobials such as chloramphenicol are used.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Child's nervous system 12 (1996), S. 713-719 
    ISSN: 1433-0350
    Schlagwort(e): Sleep ; Sleep apnoea ; Treatment ; CPAP
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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