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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 158 (1999), S. 686-686 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    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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  • 3
    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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  • 4
    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
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  • 5
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Extrem Frühgeborene ; Visus ; Strabismus ; Amblyopie ; Retinopathie ; Key words Extremely low birth weight infants ; Strabismus ; Vision ; Amblyopia ; Retinopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Aim of the study: The goal of this study was to assess the prevalence of ophthalmological abnormalities in 10 year old survivors with extremely low birthweight of 500–999 g. In addition the association between retinopathy of prematurity and other ophthalmological disorders was studied. Methods: The parents of all surviving newborns (N=117) with birthweight 500–999 g born in Switzerland between 1983 and 1985, were asked for eye problems in their children. When the history was positive, additional information was obtained from the ophthalmologist. Results: At the age of 10±1 years the very low birthweight infants had significantly more ophthalmological problems (37%) than found in the general population (10%). Whereas low vision ( 〈1.0) of at least one eye (35%), strabism (19%), amblyopia (11%) and astigmatism (7.5%) were significantly more frequent compared with the normal population, myopia (12%) was not. Retinopathy was not significantly associated with other ophthalmological disorders. Conclusions: We conclude that all extremely low birth weight infants irrespectively of retinopathy have a significantly increased risk for ophthalmological disorders. Therefore they should have regular ophthalmological reevaluations until school age.
    Notes: Zusammenfassung Fragestellung: Wie häufig sind ophthalmologische Störungen bei ehemals sehr kleinen Frühgeborenen im Alter von 10 Jahren? Bestehen Assoziationen zu einer durchgemachten Frühgeborenenretinopathie? Methode: Die Eltern aller überlebenden Frühgeborenen (n=117), die in den Jahren von 1983–1985 in der Schweiz mit einem Geburtsgewicht zwischen 500–999 g geboren worden waren, wurden nach Augenproblemen ihrer Kinder befragt. Bei positiver Anamnese wurden zusätzliche Informationen vom Ophthalmologen eingeholt. Ergebnisse: Die Frühgeborenen zeigten im Alter von 10±1 Jahren hochsignifikant mehr ophthalmologische Störungen (37%) als die Durchschnittsbevölkerung (10%). Signifikant häufiger waren Visusminderung (35%), Strabismus (19%), Amblyopie (11%) und Astigmatismus (18%). Die Myopierate (12%) war nicht wesentlich erhöht. Nach einer durchgemachten Retinopathie waren die Werte noch höher, die Unterschiede zu ehemaligen Frühgeborenen ohne Retinopathie waren jedoch nicht signifikant. Schlußfolgerung: Sehr kleine Frühgeborene weisen ein deutlich erhöhtes Risiko für ophthalmologische Störungen auf und nicht nur, wenn in der Neonatalperiode eine Retinopathie nachgewiesen wurde. Sie sollten deshalb alle mindestens bis ins Schulalter regelmäßig ophthalmologisch kontrolliert werden.
    Type of Medium: Electronic Resource
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