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  • Articles: DFG German National Licenses  (2)
  • Amino acid substitution  (1)
  • Cerebral blood volume  (1)
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  • Articles: DFG German National Licenses  (2)
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  • 1
    ISSN: 1432-1076
    Keywords: Chondrodysplasia ; Dominant mutation ; Amino acid substitution ; Allelic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 123-128 
    ISSN: 1432-1076
    Keywords: Aminophylline ; Cerebral blood volume ; Cytochrome c oxidase ; Near infrared spectroscopy ; Newborn infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effect of aminophylline on cerebral blood volume and oxidative metabolism in newborn infants was investigated with near infrared spectroscopy (NIRS). Thirteen mechanically ventilated premature infants who received aminophylline to facilitate weaning from the respirator were selected. Gestational age ranged between 26 and 34 weeks, postnatal age between 1 and 7 days and birth weight between 760 and 2300 g. A bolus of 6 mg aminophylline/kg body weight was infused within 2 min. NIRS was performed continuously across the head to monitor changes in cerebral blood volume and cytochrome c oxidase. Heart rate, transcutaneous carbon dioxide tension (tcpCO2) and arterial haemoglobin oxygen saturation (SO2) were recorded simultaneously. The infusion of aminophylline was associated with an increase in heart rate (median 12, interquartile range 5–20 beats per min,P=0.0004) and a drop in tcpCO2 (median −0.4, interquartile range −0.1 to −0.5 kPa,P=0.015). Oxygen saturation remained stable (±3%). A decrease in cerebral blood volume was measured with NIRS in 9/13 patients (median −0.15 ml/100g brain tissue, interquartile range +0.08 to −0.28,P=0.10). Oxidized cytochrome c oxidase decreased in 11/13 patients (median −0.27 μmol/l, interquartile range −0.19 to −0.44,P=0.01). Our findings demonstrate an immediate step-response of heart rate and tcpCO2 to aminophylline in premature infants. The simultaneous reduction of cytochrome c oxidase in the brain cannot be explained as a consequence of changes in tcpCO2 or changes in cerebral blood volume. We therefore speculate that aminophylline interferes directly with cerebral metabolism.
    Type of Medium: Electronic Resource
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