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  • Infants  (4)
  • Encephalomyelopathy  (2)
  • Whole body counter  (2)
  • 1
    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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  • 2
    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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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Key words Methylmalonic ; aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contact and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients’ cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive underlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
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  • 4
    Electronic Resource
    Electronic Resource
    Hair selenium content during infancy and childhood (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 295-296 
    Details
    ISSN: 1432-1076
    Keywords: Selenium ; Hair ; Infants ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hair selenium content was estimated by instrumental neutron activation analysis in Libyan infants and children. There was no significant difference between the values of young infants from North and South Libya. The hair selenium content rapidly decreased from 1071 ±75 ng/g in newborns to 301±99 ng/g in 7–10 months old infants in North Libya and to 557±204 ng/g in South Libya. In North Libya the values of preschool children were 409±117 ng/g and those of school children 464±124 ng/g.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442184
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  • 5
    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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  • 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
    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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  • 8
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contanct and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients' cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive undorlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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