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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1983), S. 8-13 
    ISSN: 1432-1076
    Keywords: Rud syndrome ; Ichthyosis ; Hypogonadism ; Mental retardation ; Epilepsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Newborns ; Serum concentrations ; Urine volume ; Osmolarity ; Creatinine ; Uric acid ; Hypoxanthine ; Xanthine ; Uracil ; cAMP ; cGMP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum creatinine, uric acid, and hypoxanthine and xanthine concentrations were determined in 17 mother-infant pairs at the time of delivery. Creatinine and uric acid levels were nearly similar, but hypoxanthine and xanthine were more than twice as high in the blood of the infants than in the blood of their mothers. In the same newborns the urinary excretion of creatinine, uric acid, hypoxanthine and xanthine, uracil, cAMP, and cGMP was measured on the first and fourth day of life. Creatinine, uracil, and cAMP increased, hypoxanthine and xanthine, and cGMP decreased, whereas the output of uric acid was nearly the same on both days. Correlations of the excreted substances to each other were calculated.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    ISSN: 1432-1076
    Keywords: Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl with untreated idiopathic hypoparathyroidism presented with muscle weakness, depressed tendonreflexes and elevated serum creatine kinase. No morphological alterations of skeletal muscle or inhibition of muscle phosphorylase could be demonstrated. It is suggested that the myopathic symptoms may be due to functional changes of the muscle membrane during hypocalcemia.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1984), S. 158-162 
    ISSN: 1432-1076
    Keywords: Vitamin deficiency rickets ; Parathyroid hormone ; Urinary cyclic AMP ; Calcitonin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3′,5′-monophosphate excretion (UcAMP) were measured together with other important indices of calcium metabolism in 24 patients (aged 2–42 months) with VDR before vitamin D treatment. iPTH and UcAMP were significantly elevated in comparison to age-matched controls. In patients there was a highly significant positive correlation between iPTH and UcAMP and a negative relationship between both indices of parathyroid activity to serum phosphate and urine calcium, respectively, indicating that the simple measurement of serum phosphate and/or urine cAMP and Ca provides a reliable tool for the assessment of secondary hyperparathyroidism in VDR. In two patients classified as being in the early stage of VDR the parathyroid activity was not elevated despite hypocalcemia indicating relative hypoparathyroidism. Twelve patients with VDR were followed during vitamin D therapy: Within the first 2 weeks of treatment UcAMP slightly increased and thereafter decreased in most patients, but was still elevated in three patients even after 7 weeks, whereas iPTH became normal within 3 weeks of treatment. This favors the concept that vitamin D deficiency diminishes the activation of renal adenylate cyclase by PTH which is overcome by the highly increased PTH secretion in the advanced stages of rickets. The basal and calcium-stimulated serum calcitonin (CT) levels, determined in some of the patients, were normal, ruling out a significant disturbance of CT secretion in VDR.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1984), S. 25-31 
    ISSN: 1432-1076
    Keywords: Idiopathic hypercalciuria ; Urinary calcium excretion ; Hypercalciuria screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hypercalciuria is of continuing interest as on of the risk factors for stone disease in children, but the definition, incidence and pathogenesis are controversial. Therefore reference values for the urinary calcium/creatinine (Ca/Cr) ratios were established in 564 healthy children aged 6–17.9 years during the fasting state (09.00 h) and in 236 of them also in the post-absorptive state about 2 h after lunch (14.00–16.00 h). The Ca/Cr ratios in both urine specimens were independent of age and sex, rendering it possible to determine a common normal range and to calculate centiles for Ca excretion in a large sample of healthy children and adolescents. To provide information about the incidence of hypercalciuria the Ca/Cr ratios of 1013 other apparently healthy children aged 6–17.9 years were measured during the post-absorptive state on two consecutive days. In 39 (3.8%) of them, 21 girls, and 18 boys, the Ca excretion was elevated in both urine specimens. Thirtysix of these children, all presenting without renal complaints, underwent further investigations to elucidate the possible mechanisms of the hypercalciuria. On the basis of the Ca/Cr concentration during the fasting state and the calciuric response to a standardised oral Ca tolerance test the children were subclassified into three groups: (1) Absorptive hypercalciuria (AH, n=12): Increased calciuric response to the Ca load, but normal fasting Ca/Cr; (2) Renal hypercalciuria (RH, n=8): Increased Ca/Cr after Ca load and during the fasting state; (3) Normal Ca excretion during the fasting state and after the Ca tolerance test, but increased sodium excretion (dietary hypercalciuria, DH, n=16). The serum prolactin levels were increased in AH, and the serum P and tubular P reabsorption rates were decreased in RH, while the parathyroid function and bone turnover were unimpaired in all groups. The study provides evidence that the measurement of Ca/Cr ratios in untimed random urine specimens during the post-absorptive state may be a reasonable screening test for elevated Ca excretion and that idiopathic hypercalciuria seems to be as prevalent in children as it is in adults.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 133 (1980), S. 151-156 
    ISSN: 1432-1076
    Keywords: Calcitonin ; Parathyroid hormone ; Anticonvulsant bone disease ; Urinary cyclic AMP ; Urinary hydroxyproline
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum calcitonin (CT) levels and other aspects of calcium metabolism were investigated in 40 epileptic children receiving long-term treatment with phenytoin and/or other anticonvulsant drugs, and in 38 age-matched controls. In the patients CT levels were significantly lower. Immunoreactive parathyroid hormone (iPTH) was significantly elevated exceeding the upper limit of controls in 11 patients. We also observed a highly significant correlation between iPTH and urinary cyclic AMP (cAMP) excretion but a lack of such a correlation with the renal handling of phosphate; this indicates to us a dissociation between cAMP production and phosphaturia. A significant correlation between iPTH levels and urinary hydroxyproline excretion points to a normal action of PTH on bone in the patients. The low CT levels are not due to hypocalcemia and may be directly attributed to the effects of anticonvulsant drugs. As the primary effect of CT is a direct inhibition of PTH induced calcium loss from bone, the drug-related low CT levels in association with secondary hyperparathyroidism possibly is an additional factor in anticonvulsant bone disease.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 202-205 
    ISSN: 1432-1076
    Keywords: Anticonvulsant bone disease ; Antiepileptic drugs ; Calcitonin ; Calcium metabolism ; Vitamin D metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Conclusion Recent investigations have illuminated the pathogenesis of anticonvulsant-drug-induced alterations of calcium metabolism. Antiepileptic drugs may provoke renal conservation of calcium and phosphate and possibly compensate partly other of the above mentioned negative effects on calcium and bone metabolism. This may explain the relatively low incidence of manifest rickets or osteomalacia despite long-term treatment with drugs that are now well known to interfere with so many improtant factors of calcium homeostasis.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1435-2451
    Keywords: Nesidioblastosis ; Total pancreatectomy ; Nesidioblastose ; Totale Pankreatektomie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Zur stationären Aufnahme kam ein Neugeborenes mit therapieresistenten Hypoglycämien bei Hyperinsulinismus. Differentialdiagnostisch konnte eine Nesidioblastose abgegrenzt werden. Nach dem primären Versuch einer subtotalen Pankreatektomie persistierte der Hyperinsulinismus. Deshalb wurde eine totale Pankreatektomie unter Erhaltung des Duodenums und des Ductus choledochus durchgeführt. Ein insulinpflichtiger Diabetes trat an die Stelle des Hyperinsulinismus. Zwischenzeitlich ist das Kind 20 Monate alt. Unter Insulin und Pankreon ® Substitution ist eine normale geistige und körperliche Entwicklung zu beobachten.
    Notes: Summary A newborn had hyperinsulinism with frequent seizures that did not respond to conservative therapy. Nesidioblastosis was the final diagnosis. Hyerinsulinism persisted after subtotal pancreatectomy. Complete pancreatectomy was therefore performed, conserving the duodenum and the choledochus. Hyperinsulinism thus gave way to diabetes requiring insulin therapy. The child is now 20 months old. Substitution therapy with insulin and Pankreon has allowed normal development.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1612-1112
    Keywords: Configuration ; Chiral phases ; Gas chromatography ; Isovaline
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Summary The D-(resp. R) configuration of isovaline (=2-ethylalanine) was proved for the peptide antibiotics antiamoebin, Tü 165 (CBS 382.62), stilbellin, samarosporin (=emerimicin IV), suzukacillin B (A), trichotoxin A-40 and A-50. This contradicts the previously reported L-configuration for isovaline in antiamoebin and emerimicin IV. The configuration was determined by GC of the N-trifluoroacetyl-isovaline n-propyl ester on glass capillary columns coated with the chiral stationary phase N-propionyl-L-valine tert.-butylamide polysiloxane (Chirasil Val). The D-configuration of the isovaline from trichotoxin A-40 was also established independently using GC of N-pentafluoro-propionyl-isovaline (+)-3-methyl-2-butyl esters on glass capillary columns coated with OV 17.
    Type of Medium: Electronic Resource
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