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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 60-66 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems.De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi-Hünermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP-AT.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Sozial- und Präventivmedizin 25 (1980), S. 162-165 
    ISSN: 1420-911X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Sittenstudie hat im Rahmen des Nationalen Forschungsprogrammes “Prophylaxe der Kardiovaskulären Krankheiten” stattgefunden. Die Verbindungen der Cholesterolemia, des Blutdruckes und des relativen Gewichtes zwischen Eltern und Kindern wurden unter anderem studiert. Nach einer Schulgesundheitskontrolle wurden 101 Väter und 108 Mütter von zehnjährigen Kindern untersucht. Die Hauptcharakteristiken dieser Eltern sind mit gleichaltrigen Erwachsenen aus Nyon und Aarau verglichen. Positive statistisch signifikante Korrelationen erscheinen zwischen Vätern und ihren Kindern für Blutdruckwerte, Cholesterolemia und relatives Gewicht. Aehnliche Korrelationen erscheinen auch zwischen Müttern und ihren Kindern aber nur für die zwei letzten Variabeln. Diese Resultate beitragen zur Hypothese des Einflusses von Umweltfaktoren auf Risikofaktorerscheinung. Die Familienzelle wird also bevorzugt, um primäre und sekundäre Prävention zu befördern.
    Abstract: Summary The “Sion” study, a part of the Swiss National Research Program on Cardiovascular diseases, investigated the relationships between parents' and children's cholesterolemia, blood pressure and relative weight. After a health control at school, 101 fathers and 108 mothers of ten year old children have been examined. The representativeness of these parents was studied using twice as many adults of the same age from Nyon and from Aarau. Direct significant statistical associations are then demonstrated between fathers' and children's blood pressure, cholesterolemia and relative weight. Analogous associations were found out for the last two variables only between mothers and children. Available data suggest that environmental determinants of risk factor exposure are more likely to explain these relationships. It then appears that the family represents a proper setting for primary prevention.
    Notes: Résumé L'étude de Sion, entreprise dans le cadre du Programme national de recherche sur les précurseurs de l'athérosclérose chez l'enfant, a notamment permis d'investiguer les relations de la cholestérolémie, de la tension artérielle et du poids relatif entre parents et enfants. L'analyse porte sur 101 pères et 108 mères et leurs enfants âgés de 10 ans. La représentativité de ces parents est étudiée par une comparaison des distributions des trois facteurs de risque avec des adultes de Nyon et d'Aarau. Des associations statistiques directes significatives ont pu être mises en évidence entre pères et enfants pour la tension artérielle systolique, la tension artérielle diastolique, le taux de cholestérol plasmatique et le poids relatif. Entre mères et enfants, les associations statistiques directes étaient significatives pour le taux de cholestérol plasmatique et pour le poids relatif. Ces résultats contribuent à indiquer qu'une part des déterminants de l'apparition des facteurs de risque est liée aux habitudes communes aux membres d'une même famille et désignent la cellule familiale comme un lieu privilégié pour la prévention primaire.
    Type of Medium: Electronic Resource
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