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  • Amino acid substitution  (1)
  • Arthrogryposis  (1)
  • Brain development  (1)
  • 1
    Electronic Resource
    Electronic Resource
    A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 215-219 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01954274
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  • 2
    Electronic Resource
    Electronic Resource
    Cerebral blood flow and neurological outcome in the preterm infant (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 138-143 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cerebral blood flow ; Preterm infants ; Neurological outcome ; Brain development ; 133Xenon method
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cerebral blood flow (CBF) studies have provided some insight into pathophysiological mechanisms of cerebral damage in newborn children; their value in predicting brain damage, however, remains elusive. The purpose of our study was to evaluate the role of CBF measurements in predicting developmental outcome in preterm neonates at 18 months. Preterm babies with a gestational age of less than 34 weeks and a birth weight of less than 1500 g (n = 71) were enrolled in the study. CBF was measured by the nonivasive intravenous 133Xe method on three different occasions. We classified our measurements into three groups: depending on the time when performed group 1: between 2 and 36 h (n = 52); group 2: between 36 and 108 h (n = 44); group 3: between 108 and 240 h (n = 41). At the age of 18 months neurodevelopment testing was performed according to the Bayley mental and motor scales. Surviving infants had a higher mean CBF over the three groups than non surviving children (15.2 ± 3.5 ml/100 g brain tissue/min vs 13.0 ± 2.1 ml/100 g brain tissue/min, P 〈 0.05). There was no correlation of CBF with mental or motor development in our study population in either of the three groups. Conclusion In preterm infants basal CBF is higher in surviving than in non surviving infants, but there is no correlation of resting CBF and later neurological outcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051034
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Neonatal nemaline myopathy presenting with multiple joint contractures (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 288-290 
    Details
    ISSN: 1432-1076
    Keywords: Nemaline myopathy ; Joint contractures ; Arthrogryposis ; Fetus ; Newborn
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratoy insufficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451965
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    Paper (German National Licenses)
    Fulltext
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