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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 13-16 
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Phenylalanine intake ; Diet control ; Compliance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The daily Phe intakes of normally growing 1- to 6-year-old treated PKU patients were evaluated. The children received protein in amounts that varied from 2.26±0.47 g/kg body weight per day (mean±SD) at the age of 6 to 1.81±0.35 at the age of 72 months. Mean Phe intakes declining from 34±7 at the age of 6 months to 15±5 mg/kg body weight per day at the age of 72 months were required to maintain mean median plasma Phe levels around 6.0 mg/dl.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Diabetic children ; Insulin antibodies ; Insulin requirements ; Metabolic control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 40 diabetische Kinder (20 , 20) im Alter zwischen 9 Monaten und 143/12 Jahren (im Mittel 86/12 Jahre) wurden mit chromatographisch gereinigtem Schweine-Insulin, Komb-Insulin CS (Hoechst), als “CS” bezeichnet (n=21), oder Semilente MC (Novo), “MC” (n=19) behandelt. Das Insulin Semilente ist zusätzlich durch Ionen-Austausch-Chromatographie gereinigt (Monocomponenten-Insulin). Während eines Beobachtungszeitraumes von mehr als 2 Jahren traten Insulin-bindende IgG-Antikörper bei 39 von 40 Patienten auf, mit niedriger Insulinbindungskapazität (〈2 mE/ml; Mittelwert nach 12monatiger Therapie: 0.45 mE/ml) nach MC-, mit deutlich höheren Konzentrationen nach CS-Gabe (Mittelwert nach 12 Monaten Therapie: 5,16 mE/ml). Allerdings wurden nur bei der Hälfte aller Patienten der CS-Gruppe (n=11) hohe Bindungskapazitäten gemessen (Untergruppe II), viele weit über 5 mE/ml, während die andere Hälfte (Untergruppe I) ebenso niedrige Werte aufwies wie die Patienten der MC-Gruppe. Das Verhältnis von Mädchen zu Jungen war ungewöhnlich hoch in der Untergruppe mit hohem Antikörperanstieg (II; Mädchen zu Jungen: 8:3), dagegen niedrig in Untergruppe I (Mädchen zu Jungen: 2:8). Trotz großer Unterschiede in der Antikörperbildung war der Insulinbedarf der MC-Gruppe und der CS-Gruppe gleich. Innerhalb der CS-Gruppe aber fanden sich 6 und 12 Monate nach Therapiebeginn klare Beziehungen zwischen beiden Parametern, hoher Insulinbedarf bei hohen, niedriger Bedarf bei geringen Antikörperkonzentrationen. Diese Relation war jedoch nur im Gruppenvergleich, nicht im Einzelfall nachzuweisen. Kurzfristige (Stoffwechselkontrolle) und längerfristige Auswirkungen der Therapie (Wachstum) waren bei MC- und CS-behandelten Patienten gut vergleichbar. Aus diesen Ergebnissen möchten wir schließen, daß die Antikörperbildung während einer relativ kurzen Beobachtungszeit (hier von etwas mehr als 2 Jahren) keinen Einfluß auf Insulinbedarf und Stoffwechselkontrolle ausübt. Unter der Voraussetzung, daß eine direkte Beziehung zwischen Antikörperbildung und späteren Gefäßkomplikationen nicht besteht — wofür beim Menschen bisher überzeugende Hinweise fehlen —, sind beide Insuline für die Langzeitbehandlung diabetischer Kinder und Jugendlicher gleichwertig.
    Notes: Abstract 40 diabetic children (20 , 20 , mean age 8.5 ys, ranging from 0.8 to 14.3 ys), were treated with either of two purified porcine insulin preparations, Komb-Insulin CS (Hoechst) “CS”: n=21, and Semilente MC (Novo) “MC”: n=19, the latter being further purified by ion exchange chromatography. Circulating IgG-antibodies formed in 39 out of 40 subjects during the observation period of more than 2 years. Insulin binding-capacities below 2 mU/ml (mean value after 12 months: 0.45 mU/ml) were found following MC and considerably higher concentrations (mean value after 12 months: 5.16 mU/ml) following CS administration. However, only 52% of the CS-group (n=11) showed high individual responses (subgroup II), many of which exceeded 5 mU/ml, while the other half (subgroup I) exhibited values as low as those in the MC-subjects. The ratio of girls to boys was high (8 vs 3) in subgroup II, and low (2 vs 8) in subgroup I. Despite great differences in antibody formation, no differences in insulin requirements were noted between the MC- and the CS-groups. Within the CS-group, however, some positive relationship between these parameters was found 6 months and 12 months after the start of therapy, but this did not necessarily apply to individual subjects. Short-term (metabolic control) and long-term effects of therapy (growth) were not different in the MC- and CS-subjects. From these results it may be concluded that antibody formation does not affect insulin requirements or metabolic control during relatively short-term treatment. Provided that antibodies have no direct relation to future vascular changes, both insulin preparations used in this study are equally well-situated for long-term treatment in children and adolescents.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 5-12 
    ISSN: 1432-1076
    Keywords: Collaborative study ; PKU ; study design
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A West German multicentre study (eight centres) of PKU was designed in 1976. The subjects of the study are the differential diagnosis, factors influencing the therapeutic outcome, and the extension of dietary therapy into adolescence. Between 1978 and 1984, 165 patients were enrolled, of whom 38 were of non-German nationality. The educational and occupational status of the West German parents were comparable to the population of the Federal Republic of Germany. In the central data bank located at the University Childrens Hospital in Heidelberg, data from recurrent medical examinations and from biochemistry, dietetics, neurology, psychometry and demography were collected. The differential diagnosis of the elevated plasma Phe level in the newborn period resulted in the detection of 2 patients with a PTPS-deficiency, and of 163 with an apo-enzyme defect. Depending upon the magnitude of the Phe levels during the first weeks of life, preliminary treatment groups were formed. They were revised at the age of 6 months with a protein challenge. The levels of Phe during the protein challenge resulted in three types of response. Of these, type III can apparently forgo dietary restrictions resulting in plasma Phe concentrations of around 10 mg/dl. Preliminary results of the whole study are now presented.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: PKU ; Phenylalanine hydroxylase ; Deuterated phenylalanine ; Psychointellectual outcome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 20 patients with PAH deficiency, in vivo RA was determined by an intravenous deuterated Phe load. Sixteen patients had RAs of less than 0.4% of normal, 3a clearly detectable activity between 0.8 and 1.4% of normal. Long-term Phe tolerance as measured by the distribution of plasma Phe levels in categories (0–3.9, 4.0–9.9, 10–15.9 and over 16 mg/dl) was much improved in patients with RAs greater than 0.8%. There was a negative correlation between RA and number of plasma Phe levels 〉16 mg/dl. Relationship between full scale IQ at the age of 9 years and dietary control showed a positive correlation between IQ and the number of Phe levels between 0–10 mg/dl (k=.50p〈0.05). Highest (negative) correlation (k=−0.67p〈0.007) was found between full scale IQ and the number of Phe values 〉16 mg/dl as measured over 9 years. On the one hand detectable RA of PAH reduces the risk of high Phe levels and thus may also reduce the risk of brain damage in untreated or suboptimally treated patients with PAH. On the other hand enzyme measurement of PAH is no predictive parameter for Phe tolerance in an individual patient since RA may be very similar in phenylketonuric/hyperphenylalaninaemic patients. For practical purposes the oral protein loading test at the age of 6 months will give the most reliable results for differential diagnosis of PAH deficiency.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-198X
    Keywords: Key words: Primary de Toni-Debré-Fanconi syndrome ; Body growth ; Acidosis ; Final height ; Growth hormone ; Potassium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract .Body growth in nine children with primary de Toni-Debré-Fanconi syndrome was followed from birth to adolescence or adult life. At the time of diagnosis, corresponding to the start of treatment, the median age was 2.3 (range 0.4 – 13.9) years and height standard deviation score (SDS) was always decreased (median  – 3.5, range  – 6.8 to  – 2.1). Despite continuous electrolyte and bicarbonate supplementation only four patients showed a slight improvement in growth. At the time of the last observation at the age of 17.2 (4.5 – 20.1) years median height was  – 4.7 ( – 5.9 to  – 1.8) SDS. The median difference between height at last observation and target height was  – 4.5 SDS. Final height (n = 5) ranged between  – 1.8 and  – 5.5 (median –4.3) SDS. The pubertal growth spurt was absent in two children. Metabolic acidosis was identified as a significant growth-retarding factor. Mean serial blood bicarbonate levels and height SDS at the last observation were correlated (r =  – 0.87, P〈0.01). No correlation was observed between last height SDS and the degree of hypokalemia, hypophosphatemia, or hypercalciuria. In conclusion, patients with primary de Toni-Debré-Fanconi-syndrome present severe growth failure at the time of diagnosis which persists into adult life. Supportive therapy is frequently unable to prevent further loss of relative height.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-198X
    Keywords: Diabetes mellitus ; Isoelectric focusing ; Urinary albumin ; Sodium dodecyl sulphate-polyacrylamide gel electrophoresis ; tubular proteinuria ; β2-Microglobulin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied differential urinary albumin excretion by a double one-dimensional gel electrophoresis with decyl sodium sulphate-polyacrylamide gel electrophoresis in the first, and isoelectric focusing in the second dimension in 37 diabetic children and 20 healthy subjects. In addition, total proteins, albumin, β2-microglobulin and molecular size distribution of urinary proteins were measured. the latter using sodium dodecyl sulphate-polyacrylamide gel electrophoresis. Whilst albuminuria was not significantly different from controls we found an increased microheterogeneity of urinary albumin in 38% of patients. In addition, low molecular weight protein (P〈0.05) and β2-microglobulin excretion (P〈0.01) were elevated. It is suggested that the appearance of highly heterogenous albumin in the pI range of 5.3–5.9 is the result of a decreased tubular reabsorption.
    Type of Medium: Electronic Resource
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