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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 115 (1973), S. 333-342 
    ISSN: 1432-1076
    Keywords: Muscular dystrophy (Duchenne type) ; Carrier identification ; Activated serum creatine phosphokinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über Ergebnisse der SH-aktivierten CPK-Bestimmung im Serum von 84 Konduktorinnen der Muskeldystrophie Typ Duchenne berichtet. Es handelt sich um 6 sichere, 5 wahrscheinliche und 73 mögliche, Konduktorinnen. 83% der sicheren, 60% der wahrscheinlichen und 37% der möglichen Konduktorinnen zeigten erhöhte CPK-Aktivitäten im Serum.
    Notes: Abstract SH-activated serum-CPK has been estimated in 84 carriers of X-linked muscular dystrophy type Duchenne. The series includes 6 definite, 5 probable and 73 possible carriers. In 83% of the definite, 60% of the probable and 37% of the possible carriers serum-CPK activities were elevated.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1984), S. 35-40 
    ISSN: 1432-1076
    Keywords: Chronic intrahepatic cholestasis ; Biliary lipid composition ; Bile acids ; Gallstones
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Biliary lipid composition, standard liver function tests, serum lipids and faecal fat excretion were studied in 15 children with chronic intrahepatic cholestasis (severe intrahepatic cholestasis, n=6; paucity of intralobular bile ducts, n=4; benign recurrent cholestasis, n=5) and compared to 15 children without gastrointestinal diseases. Severe and benign intrahepatic cholestasis were associated with normal or moderately elevated serum lipids. Biliary lipid concentrations were extremely reduced, bile acid concentrations were below the critical micellar concentration. This may account for the high incidence of gallstone formation in these patients. Remission periods in patients with benign recurrent cholestasis were not followed by complete normalisation of biliary lipid concentrations, indicating a primary defect in hepatic excretory function. Children with paucity of intralobular bile ducts showed markedly increased serum lipids, but only a two-fold reduction in biliary lipid concentrations. Cholic acid was the predominant bile acid in bile of all cholestatic children even during remission. Neither increased levels of monohydroxy bile acids nor unusual bile acids could be identified in notable amounts.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1984), S. 41-44 
    ISSN: 1432-1076
    Keywords: Chronic intrahepatic cholestasis ; Biliary lipid composition ; Bile acids ; Phenobarbital
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effects of phenobarbital (5.4–7.5 mg/kg body weight) for 14 days were studied in four children with severe intrahepatic cholestasis (group I) and in four with a syndromatic type of paucity of intralobular bile ducts (group II). Phenobarbital administration resulted in a moderate improvement of pruritus in all patients. There was a significant decrease of bilirubin in serum (group I: from 4.8 to 2.7 mg/dl; group II: from 6.1 to 2.1 mg/dl); total bile acids (group I: from 416 to 337 μmol/l; group II: from 156 to 123 μmol/l) and cholesterol (group I: from 248 to 207 mg/dl; group II: from 351 to 292 mg/dl). Alkaline phosphatase activity increased from 929 to 1126 U/l in group I and from 1751 to 2360 U/l in group II. SGOT and SGPT activities remained unchanged in both groups. In group I total biliary lipid concentration and bile acid output increased from 0.09 to 0.17 g/dl and from 3.9 to 7.2 μmol/kg per 30 min, respectively. Molar percentages of cholesterol, phospholipids and bile acids in bile remained unchanged. In group II total lipid concentrations and bile acid output increased from 1.62 to 2.0 g/dl and from 27.8 to 39.1 μmol/kg per 30 min, respectively. The molar percentage of cholesterol decreased from 5.6 to 3.5 mol%. The present results indicate that short term administration of phenobarbital has only minimal effects on biliary lipid metabolism in children with chronic intrahepatic cholestasis.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 119 (1975), S. 279-291 
    ISSN: 1432-1076
    Keywords: Vitamin A ; Carotene ; Retinol-binding protein ; Prealbumin ; Cystic fibrosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 42 Patienten mit cystischer Fibrose (CF) und bei 92 Normalpersonen wurden die Serumkonzentrationen von Vitamin A, Carotin, retinolbindendem Protein (RBP) und Präalbumin (PA) bestimmt. Alle Patienten mit CF erhielten Vitamin A-Palmitat in Form eines Multivitaminpräparates in der doppelten empfohlenen Dosis für Gesunde. Bei der statistischen Prüfung waren die Serumkonzentrationen von Vitamin A, Carotin und RBP bei den Patienten mit CF im Vergleich zu den Normalpersonen erniedrigt (P〈0,001). Für das PA ließ sich zwischen beiden Gruppen ein statistisch signifikanter Unterschied nicht sichern. Bei den Normalpersonen fand sich nur für das PA ein altersabhängiger Anstieg (r=0,455, P〈0,001). Bei den Patienten mit CF nahmen die Serumkonzentrationen von Vitamin A in Korrelation zum Lebensalter ab (r=−0,423, P〈0,01). PA und RBP sowie RBP und Vitamin A waren bei beiden Gruppen signifikant gleichsinnig korreliert (P〈0,001). Bei den Normalpersonen ergab sich auch zwischen Vitamin A und Carotin eine positive Korrelation (r s=0,606, P〈0.001), während bei den Patienten mit CF diese Beziehung schwächer signifikant war (r s=0,311, P〈0,02).
    Notes: Abstract Vitamin A, carotene, retinol-binding protein (RBP), and prealbumin (PA) have been measured in 42 children and adolescents with cystic fibrosis (CF) and in 92 normal controls. All patients with CF were on vitamin A palmitate in twice the dose for normals. For statistical analysis U-test of Wilcoxon, Mann and Whitney, parametric correlation coefficient and Spearman's rank correlation coefficient were used. Compared with those in normal controls mean serum concentrations of vitamin A, carotene and RBP were depressed in patients with CF (P〈0.001), whereas PA levels did not differ significantly from those of normal individuals. In normal controls there was only in serum concentration of PA an elevation with age (r=0.455, P〈0.001). In patients with CF, serum concentration of vitamin A decreased in correlation with age (r=−0.423,P〈0.01). PA and RBP as well as RBP and vitamin A were positively related in both groups (P〈0.001). In normal individuals there was a highly significant correlation between serum concentrations of vitamin A and carotene (r s=0.606, P〈0.001), whereas in patients with CF this relationship was less significant (r s=0.311, P〈0.02).
    Type of Medium: Electronic Resource
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