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  • 1
    Electronic Resource
    Electronic Resource
    Primary hypomagnesemia (1975)
    Springer
    European journal of pediatrics 118 (1975), S. 249-258 
    Details
    ISSN: 1432-1076
    Keywords: Primary hypomagnesemia ; Hypocalcemia ; Intestinal absorption ; Magnesium ; Whole body counter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der klinische Verlauf zweier Patienten mit primärer Hypomagnesämie wird beschrieben. Bei einem Patienten, einem 5 Monate alten Säugling, wurden Magnesiumretention,-resorption,-Stuhlausscheidung und-Clearance gemessen. Die Retention (2,8%) und Resorption (7,8%) von Magnesium28 war deutlich erniedrigt im Vergleich zu Kontrollpersonen, die durchschnittlich 25% retinierten und 28% absorbierten. Zwischen den Retentionswerten der Eltern und Verwandten und denen der gesunden Erwachsenen bestand kein Unterschied. Der untersuchte Patient wurde erfolgreich mit Trimagnesiumdicitrat, entsprechend einer Dosis von 1,75 g Magnesium, behandelt.
    Notes: Abstract The clinical course of 2 patients with primary hypomagnesemia is reported. In one male patien, 5 months old, measurements of magnesium retention, intestinal absorption, fecal excretion and renal clearance were performed. The retention (2.8%) and absorption (7.8%) of 28-Mg were markedly reduced in comparison to controls (average retention 25% and average absorption 28%). The retention values of the parents and other relatives did not differ from those of healthy adults. The examined patient was successfully treated with trimagnesium dicitrate containing 1.75 g magnesium per day.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00492330
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  • 2
    Electronic Resource
    Electronic Resource
    Serum zinc concentration during childhood (1977)
    Springer
    European journal of pediatrics 126 (1977), S. 199-202 
    Details
    ISSN: 1432-1076
    Keywords: Zinc ; Serum ; Normal values ; Children ; Infants ; Cord blood ; Adults
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum zinc concentrations in subjects of different ages were estimated by neutron activation analysis to obtain reliable reference values for the diagnosis of primary or secondary zinc deficiency during childhood. In these healthy individuals a small age-dependent variation of the mean values was found. Serum zinc concentrations were lower in cord blood (mean value: 880×10−9 g/ml) and in infants (mean value: 820×10−9 g/ml) than in adults (mean value 1178×10−9 g/ml). In comparison to these values, the serum zinc concentration in a patient with secondary zinc deficiency and 4 patients with acrodermatitis enteropathica was reduced to about 25% of normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00477045
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  • 3
    Electronic Resource
    Electronic Resource
    Selenium content of human milk, cow's milk and cow's milk infant formulas (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 139-145 
    Details
    ISSN: 1432-1076
    Keywords: Selenium ; Human milk ; Cow's milk ; Cow's milk infant formula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The selenium content of human milk, cow's milk and cow's milk infant formula were estimated by instrumental neutron activation analysis. The highest values were found in 3 samples of human colostrum (524–865×10-9 g/g dry weight). There was a significant decrease with increasing time post partum. Mature human milk exhibited a selenium content of 230±79×10-9 g/g dry weight. The selenium content of 45 samples of cow's milk from the north-western area of Germany was 200±39×10-9 g/g dry weight. While there was no significant difference between the values of mature human milk and of cow's milk, cow's milk infant formula exhibited significantly (P〈0.01) lower values than human milk. The average selenium content of 107 samples of 10 different commercially available fluid and powdered cow's milk infant formulas (range: 18–171×10-9 g/g dry weight) amounted to about only one third of that in mature human milk.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442157
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  • 4
    Electronic Resource
    Electronic Resource
    Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis (1979)
    Springer
    European journal of pediatrics 132 (1979), S. 197-206 
    Details
    ISSN: 1432-1076
    Keywords: Neuronal ceroid-lipofuscinosis ; Serum lecithin pattern ; Arachidonic acid ; Linoleic acid ; Ultrastructural inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroidlipofuscinosis is briefly discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442436
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  • 5
    Electronic Resource
    Electronic Resource
    The selenium state of healthy children (1977)
    Springer
    European journal of pediatrics 125 (1977), S. 81-88 
    Details
    ISSN: 1432-1076
    Keywords: Selenium ; Glutathione peroxidase ; Normal values ; Blood ; Infants ; Children ; Milk ; Nutrition
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The selenium concentration of serum is age-dependent. The median value at birth ( $$\tilde x$$ =50×10−9g/ml) amounts to half of the median value of adults ( $$\tilde x$$ =102×10−9g/ml). After a decrease in early infancy to $$\tilde x$$ =34×10−9g/ml it steadily increases to $$\tilde x$$ =58×10−9g/ml in the second half of the first year, to $$\tilde x$$ =82×10−9g/ml in 1–5 year old children, and to $$\tilde x$$ =92×10−9g/ml in school children. The activities of the selenium containing enzyme glutathione peroxidase of erythrocytes are also reduced in early infancy (x=7.2±0.36 U37/g Hb), whereas the enzyme activities of cord blood erythrocytes (x=8.72±0.76 U37/g Hb) are in the same range as those of older children or adults. The selenium content of some commercially available milk formulas for infants are lower than those of human and cow's milk.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00470608
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  • 6
    Electronic Resource
    Electronic Resource
    Akrodermatitis enteropathica — eine Zinkstoffwechselstörung mit Zinkmalabsorption (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 181-189 
    Details
    ISSN: 1432-1076
    Keywords: Acrodermatitis enteropathica ; Zinc ; Malabsorption ; Therapy ; Zinc retention ; Zinc elimination ; Whole body counter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 3 Patienten mit Akrodermatitis enteropathica wurde mit Hilfe der Ganzkörpermessung nach oraler Applikation von 65Zn eine verminderte intestinale Zinkresorption gedunden. Dagegen war die Zinkelimination aus dem Körper normal. Die Zinkkonzentration im Serum war bei den Patienten stark erniedrigt. Alle klinischen Symptome verschwanden nach sehr hohen oralen Zinkdosen. Diese Befunde sprechen um so mehr für eine ursächliche Rolle des Zinks in der Pathogenese der Akrodermatitis enteropathica, als bei dieser Krankheit ultrastrukturelle Veränderungen in den Panethschen Zellen nachzuweisen sind [12], die auch beim Zinkmangel der Ratten gefunden wurden [Beitr. Path. 145, 336 (1972)].
    Notes: Abstract The intestinal resorption of zinc using 65ZnCl2 was estimated in 3 patients with acrodermatitis enteropathica, 2 healthy controls, and 3 heterozygotes. After oral application of 65Zn the whole body activity was measured by a whole body counter for 34 days. The 65Zn resorption of the patients amounted to 16, 42 and 30% of the applied dose, whereas the resorption values of the heterozygotes and the controls were in the range of 58 and 77%. The elimination of 65Zn from the body amounted to about 0.7% of the applied dose with no difference between controls and patients with acrodermatitis enteropathica. Before therapy the serum-zinc levels of patients were markedly decreased. After oral application of high doses of zinc aspartate (2×400 mg/day) all clinical symptoms disappeared within a week. The results point at a causal connection between zinc and the pathogenesis of acrodermatitis enteropathica. Ultrastructural alterations of the Paneth cells of the intestine are also shown in this disease [12] as have also been seen in Paneth cells of zinc deficient rats [Beitr. Path. 145, 336 (1972)].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439007
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  • 7
    Electronic Resource
    Electronic Resource
    A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 261-275 
    Details
    ISSN: 1432-1076
    Keywords: Acatalasia ; Cerebro-hepato-renal syndrome ; Cirrhosis ; Hemochromatosis ; Cytochrome abnormalities ; Peroxisomes ; Mitochondria ; Oxidative phosphorylation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one patient with ZS [2], contained smooth endoplasmic reticulum. No catalase was found by histochemistry or spectroscopy. Mitochondria showed normal succinate and glutamate respiration, and normal coupling of respiration to the phosphorylation potential. The cytochrome (cyt) content was diminished to one-third with an abnormally inversed redox patterns of the respiratory chain in the controlled state, cyt b being 5%, cyt c 23% reduced. The oxygen affinity of cyt a 3 was normal. These findings exclude a defect in the nonheme iron protein region of the respiratory chain as described in ZS [2], but point to a functional abnormality of cyt b in our patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441934
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  • 8
    Electronic Resource
    Electronic Resource
    Vacuolated lymphocytes in type II glycogenosis —A diagnostic approach? (1977)
    Springer
    European journal of pediatrics 127 (1977), S. 1-7 
    Details
    ISSN: 1432-1076
    Keywords: Glycogenosis type II ; Lymphocytes ; Electron microscopic examination ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogenfilled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00465559
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  • 9
    Electronic Resource
    Electronic Resource
    Beta cell nesidioblastosis (1978)
    Springer
    European journal of pediatrics 127 (1978), S. 75-89 
    Details
    ISSN: 1432-1076
    Keywords: Hyperinsulinism ; β-cell hyperplasia ; Nesidioblastosis ; Newborn ; Infants ; Somatostatin ; Electron microscopy ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with severe hypoglycemia since birth are described. In both hyperinsulinism was demonstrated during spontaneous hypoglycemic attacks or could be provoked by various tolerance tests. In case I considerable obesity and psychomotor retardation was present at the age of one year whereas in case II weight gain was normal and development unaffected. Immunofluorescence microscopic and electron microscopic examination of the pancreas after subtotal pancreatectomy revealed diffuse islet cell hyperplasia with nesidioblastosis in case I and β-cell nesidioblastosis in case II. The hyperplastic and nesidioblastotic areas consisted mainly of β-cells. In addition, an accumulation of somatostatin producing cells was observed in case I, and some cells were found with ultrastructural signs of both endocrine and exocrine function. In both cases, pancreatic insulin release was inhibited by a prolonged somatostatin infusion. The results of tolerance tests did not allow a diagnosis of the underlying pancreatic lesion. In case II, leucine-sensitive hypoglycemia detected soon after birth, was present even after subtotal pancreatic resection. Therapeutic trials with diazoxide in case I and a leucine-restricted diet in case II were only of temporary benefit. After subtotal pancreatectomy there was clinical improvement in both cases, but case II still needs a leucine-restricted diet. The familial occurrence of persistent hypoglycemia in both cases suggests that β-cell nesidioblastosis may be a hereditary disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445763
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  • 10
    Electronic Resource
    Electronic Resource
    The selenium state of children (1978)
    Springer
    European journal of pediatrics 128 (1978), S. 213-223 
    Details
    ISSN: 1432-1076
    Keywords: Selenium ; Gluthathione peroxidase ; Dietotherapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The selenium content of serum, whole blood and hair was measured by neutron activation analysis in dietetically treated patients with phenylketonuria (PKU) and maple-syrup-urine disease (MSUD). Follow-up studies showed a decrease of the serum selenium content and the glutathione peroxidase activity of erythrocytes—a selenoenzyme—from normal values at the beginning of the diet to 20% (selenium) and 50% (gluthione peroxidase) of normal within 10–12 weeks of dietary treatment. In 36 patients the serum selenium content was lower at 6.7–28×10-9 g/ml, independent of the age of the patients (0.5 to 10 years). The selenium content of whole blood was reduced: median=98×10-9 g/g dry weight; range 75 to 165×10-9 g/g dry weight (healthy children: median=381×10-9 g/g dry weight; range 245 to 588×10-9 g/g dry weight). The selenium content of hair was markedly lower in the patients (median=62×10-9 g/g; range 13–140×10-9 g/g) than in healthy children (median=429; range 213 to 720×10-9 g/g). The mean glutathione peroxidase activity of erythrocytes was reduced to 4.6±0.64 U37/g Hb, in comparison to normal values (mean=8.8±0.88 U37/gHb).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445606
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