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  • Dominant mutation  (2)
  • Bradycardia  (1)
  • Cerebral blood volume  (1)
  • 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
    ISSN: 1432-1076
    Keywords: Key words 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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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 147 (1988), S. 288-291 
    ISSN: 1432-1076
    Keywords: Premature infant ; Caffeine ; Hypoxaemia ; Bradycardia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fifty spontaneously breathing, preterm infants 48h old, of 32 weeks' gestation or less, were assigned randomly to receive caffeine citrate (loading dose 20 mg/kg, maintenance dose 10 mg/kg per day) or a placebo (NaCl 0.9%). The study hypothesis was that caffeine reduces the proportion of infants with recurrent hypoxaemic episodes (decrease in transcutaneous PO2 of 20% within 20ss) from 50% to 25%. Transcutaneous oxygen tension (tcPO2) and heart rate were recorded continuously for 50h and analysed by computer. The two groups were similar in gestational age, birth weight, delivery mode, sex distribution, and Apgar scores. The mean serum concentration (±SD) of caffeine 2h after the second maintenance dose was 96.0 (±34.5) μmol/l in the group receiving caffeine and 9.3 (±12.8) μmol/l in the group receiving a placebo. The mean proportion of infants with more than six hypoxaemic episodes per 12h in the caffeine groups was higher (57%) than in the control group (51%). The mean proportion of infants with more than six episodes of bradycardia per 12h was not statistically different in the caffeine group (79%) from the control group (86%). Our results suggest that prophylactic caffeine has little if any effect on the risk of developing hypoxaemic episodes and bradycardia in small preterm infants and the supposed 50% reduction which was considered clinically important at the start of the trial can be rejected with confidence.
    Type of Medium: Electronic Resource
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  • 4
    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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