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  • 1
    Electronic Resource
    Electronic Resource
    Myoadenylate deaminase deficiency with severe rhabdomyolysis (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 513-515 
    Details
    ISSN: 1432-1076
    Keywords: Myoadenylate deaminase deficiency ; Rhabdomyolysis ; DNA-analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955062
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Ergometer exercise in myoadenylate deaminase deficient patients (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 461-465 
    Details
    ISSN: 1432-1440
    Keywords: AMP deaminase ; Myoadenylate deaminase deficiency ; Muscular exercise ; Hypoxanthine ; Ammonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Three patients with primary myoadenylate deaminase deficiency were subjected to exercise on a bicycle ergometer at 125 W for 30 minutes. Blood samples prior to, during, and at the end of exercise were analyzed for lactate, ammonia, and hypoxanthine. In addition, urinary hypoxanthine excretion was measured. In these patients the serum lactate level increased to concentrations between 7.9 and 9.0 mmol/1 at the end of exercise whereas the mean lactate level in nine control subjects at the end of exercise was 3.3 mmol/l (range 1.1–8.1 mmol/l). There was no difference to control subjects in the exercise-induced increase in plasma levels of ammonia and hypoxanthine or in the increase in urinary hypoxanthine excretion. The findings support the hypothesis of a reduced substrate supply to the citric acid cycle in myoadenylate deaminase deficiency. The normal formation of ammonia and hypoxanthine excludes a marked loss of adenine nucleotides in working muscles in these patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00180060
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Datenschutz innerhalb des länderübergreifenden Deutschen Zentralregisters für kindliche Hörstörungen (1998)
    Springer
    HNO 46 (1998), S. 339-345 
    Details
    ISSN: 1433-0458
    Keywords: Schlüsselwörter Datenschutz ; Datensicherheit ; Medizinische Register ; Datenerhebung ; Kindliche Hörstörungen ; Key words Medical registries ; Data collection and security ; Hearing loss and childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The German Registry for Hearing Loss in Children (DZH) processes nationwide data from audiological centers. Coping with the accrued data and its subsequent management and analysis requires a high degree of security and control. To establish a nationwide registry it is necessary at an early stage to take into consideration the legal requirements of the participating states. Use of the DZH as an example demonstrates how a pragmatic solution can be reached. Special issues concerning data collection, transfer, storage and deletion, coding strategies to ensure anonymity, checking for duplicate entries, data separation, and automated data analysis and data protection are explained.
    Notes: Zusammenfassung Das Deutsche Zentralregister für kindliche Hörstörungen (DZH) verarbeitet bundesweit Daten von verschiedenen audiologischen Einrichtungen. Die Bewältigung der anfallenden Datenmengen, die nachfolgende Datenverwaltung und -analyse erfordern neben einer differenzierten und kontrollierbaren Verarbeitung ein Höchstmaß an Datensicherheit. Vor allem die länderübergreifende Struktur eines Registers erfordert schon bei der Planung engste Zusammenarbeit mit dem zuständigen Landesdatenschutzbeauftragten und auch mit den Landesdatenschutzbeauftragten anderer beteiligter Bundesländer. Am Beispiel des DZH wird demonstriert, wie eine kooperative Zusammenarbeit pragmatisch realisiert werden kann. Besonderheiten bei der Datenerhebung, Datentransfer, Speicherung und Löschung von Daten, technische Datenschutzmaßnahmen, Sicherstellung von Anonymität durch Codierungsstrategien, Duplikatsprüfung, Datentrennung und automatisierte Datenauswertung werden an Beispielen erläutert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001060050249
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Wird die Diagnose bei persistierenden kindlichen Hörstörungen immer noch zu spät gestellt? (1998)
    Springer
    HNO 46 (1998), S. 598-602 
    Details
    ISSN: 1433-0458
    Keywords: Schlüsselwörter Diagnosezeitpunkt ; Verzögerte Diagnose ; Medizinische Register ; Datenerhebung ; Kindliche Hörstörungen ; Key words Age at diagnosis ; Delay of diagnosis ; Medical registries ; Data collection ; Hearing loss in childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Since 1994, the German Registry for Hearing Loss in Children has registered data of 1500 children and by now can present results concerning the age at diagnosis of permanent hearing loss in children in Germany. The mean age at diagnosis is still very high. There is a strong correlation between age at diagnosis and degree of hearing loss, i.e., severe and profound hearing loss, is diagnosed distinctly earlier than mild and moderate hearing loss. On average, mild hearing loss is diagnosed with 6.2 years, moderate h.l. with 4.4 years, severe hearing loss with 2.5 years and profound hearing loss with 1.9 years. This corresponds with the results of regional German studies. At least regionally, in other European countries the age at diagnosis is known to be distinctly lower. In 36% of the children registered in Germany the delay between first suspicion and diagnosis of permanent hearing loss is 1 year or more.
    Notes: Zusammenfassung Das Deutsche Zentralregister (DZH) für kindliche Hörstörungen hat seit 1994 Patientendatensätze von 1500 Kindern erfaßt und kann mittlerweile u.a. Aussagen und Ergebnisse zum Diagnosezeitpunkt persistierender kindlicher Hörstörungen in der Bundesrepublik Deutschland vorlegen. Nach wie vor ist das mittlere Alter bei der Diagnose persistierender kindlicher Hörstörungen sehr hoch. Das Diagnosealter korreliert stark mit dem Grad der Hörstörung, d.h. an Taubheit grenzende und hochgradige Hörstörungen werden deutlich früher diagnostiziert als leichte und mittlere. So werden leichte Hörstörungen im Durchschnitt erst mit 6;2 Jahren diagnostiziert, mittlere mit 4;4 Jahren, hochgradige mit 2;5 Jahren und an Taubheit grenzende mit 1;9 Jahren. Dies entspricht den Ergebnissen bereits vorliegender regionaler deutscher Studien [1–2]. Aus anderen europäischen Länderen sind zumindest regional deutlich frühere Diagnosezeitpunkte bekannt [3–5]. Bei 36% der im DZH erfaßten Kinder liegt zwischen dem ersten Verdacht auf Vorliegen einer persistierenden kindlichen Hörstörung und der Sicherstellung der Diagnose ein Jahr und mehr.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001060050279
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    Paper (German National Licenses)
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