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  • Bile acid  (1)
  • CTG repeats  (1)
  • Carbohydrate absorption  (1)
  • 1
    ISSN: 0009-8981
    Keywords: Bile acid ; Chenodeoxycholic acid ; Cholesterol ; Cholic acid ; Gas-chromatography-mass spectrometry ; Mevalonate kinase deficiency ; Stable-isotope
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Myotone Muskeldystrophie ; CTG-Trinukleotide ; Key words Myotonic dystrophy ; CTG repeats
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Myotonic dystrophy is an autosomal dominant multisystem disorder involving muscle, brain, heart, eyes, and endocrine organs. The underlying mutation is an expanding trinucleotide CTG repeat in the 3’prime untranslated region of a serine-threonine kinase gene on chromosome 19q. A statistical correlation exists between the CTG copy number and the severity of the disease. Infants with severe congenital myotonic dystrophy have been shown to have on average a greater amplification of the CTG repeat than is seen in the non-congenital myotonic dystrophy population. However, not all patients with many CTG copies develop congenital myotonic dystrophy. We present 13 patients with more than 1500 CTG trinucleotide repeats and show their variable clinical course.
    Notes: Zusammenfassung Die myotone Muskeldystrophie ist eine autosomal dominante Multisystemerkrankung, die Muskulatur, Gehirn, Herz, Augen, Gastrointestinaltrakt und endokrine Organe betreffen kann. Die zugrundeliegende Genmutation ist eine Vermehrung von CTG-Triplets in der untranslatierten 3’Region eines Serin-Threonin-Kinase-Gens auf Chromosom 19q. Die Anzahl der CTG-Kopien korreliert statistisch mit der Schwere der Erkrankung. Kinder mit kongenitaler myotoner Muskeldystrophie haben durchschnittlich mehr CTG-Kopien als Patienten mit nichtkongenitaler Erkrankung. Allerdings haben nicht alle Patienten mit hoher Anzahl von CTG-Kopien einen kongenitalen Erkrankungsbeginn. Wir präsentieren 13 Patienten mit mehr als 1500 CTG-Trinukleotidkopien und zeigen das variable klinische Bild.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 156 (1997), S. S18 
    ISSN: 1432-1076
    Keywords: Key words13C breath test ; Stable isotopes ; Liver ; function ; Carbohydrate absorption ; Aminopyrine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Breath tests (BT) using stable isotopically labelled substrates seem to fullfil all the demands and desires for a non-invasive investigation. There are no radiation hazards, substrates are given in tracer amounts perorally, breath and urine samples can be collected easily, and tests can be done repeatedly, thus easily allowing the monitoring of function with time. There are, however, some disadvantages. Any BT has the same assumption: after intake of the 13C tracer the substrate is metabolized to 13CO2. An increase of 13CO2 above baseline levels is said to reflect the function investigated – in 13C sucrose studies, the amount of carbohydrate absorbed; in 13C aminopyrine BT, the liver function; in 13C glucose BT in a diabetic child, the impaired handling of glucose. However, as only the end product 13CO2 is measured, there is no information on all the pools and fluxes the labelled substrate and its metabolites have to pass. At least in inborn errors of metabolism, probably in any disease, one has to assume that these fluxes and pools are substantially changed. Therefore all calculations are weak and finally one has to resort to invasive methods, i.e. drawing blood to measure pools and fluxes to allow a correct interpretation of the BT data. Furthermore, changes in the basal exhalation of 13CO2 during the test will have an impact on the BT calculation. Another problem is that for an exact calculation, the basal metabolic rate (BMR) and the actual endogenous CO2 production in the patient is needed, which in most instances is unknown. It is not easy to maintain a stable endogenous CO2 production, particularly in younger children who will not rest or in neonates and toddlers who may fight against taking breath samples. Taking together these limitations are the reason why BT have not been able to reach the level of routine clinical methods, especially in the diagnostic work up of impaired liver function or inborn errors of metabolism.
    Type of Medium: Electronic Resource
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