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  • 1
    Electronic Resource
    Electronic Resource
    Deficiencies of essential fatty acids and vitamin E in cystic fibrosis (1979)
    Springer
    European journal of nutrition 18 (1979), S. 81-87 
    Details
    ISSN: 1436-6215
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Medicine
    Description / Table of Contents: Zusammenfassung Bei 25 Patienten mit Mukoviszidose (13 männlich, 12 weiblich) und entsprechenden Kontrollen wurden der Serum-Vitamin-E-Spiegel und das Fettsäuremuster von Serumcholesterinestern, Serumphospholipiden und Serumtriglyzeriden untersucht. Im Vergleich zu Kontrollpatienten (1,02±0,24 mg/100 ml) war der Serum-Vitamin-E-Spiegel bei den Patienten mit Mukoviszidose signifikant erniedrigt (0,30±0,26 mg/100 ml) (p〈0,01). Zwischen beiden Gruppen besteht kein signifikanter Unterschied des Fettsäuremusters. Unterschiede sind jedoch aus der-Serumcholesterinesterfraktion am besten ersichtlich. Hier ist die Linolsäurekonzentration im Mittelwert bei den Patienten mit Mukoviszidose im Vergleich zu den Kontrollen erniedrigt. Ein möglicher Einfluß der Wachstumsgeschwindigkeit wird diskutiert.
    Notes: Summary In 25 children (13 male; 12 female) with cystic fibrosis aged 6 months to 16 years and 24 matched controls total serum vitamin E levels and fatty acid patterns of serum cholesterol esters, phospholipids and triglycerides are demonstrated. Compared to controls (1.02±0.24 mg/dl) the total serum vitamin E levels are significantly decreased in patients with cystic fibrosis (0.30±0.26 mg/dl) (p〈0.01). There is no significant difference comparing the fatty acid patterns of the serum ester fractions of both groups. Differences can be seen best in the cholesterol ester fraction. In this fraction linoleic acid shows a trend to be decreased in the cystic fibrosis patients compared to the control group. A possible influence of height velocity on the levels of essential fatty acids is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02023721
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  • 2
    Electronic Resource
    Electronic Resource
    Effects of essential fatty acid deficiency on various functions of the rat erythrocyte membrane (1979)
    Springer
    European journal of nutrition 18 (1979), S. 112-118 
    Details
    ISSN: 1436-6215
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Medicine
    Description / Table of Contents: Zusammenfassung An Erythrozyten von Ratten mit essentiellem Fettsäuremangel wurden verschiedene Transportfunktionen der Membran studiert, um zu klären, ob ein Mangel an essentiellen Fettsäuren in der Erythrozytenmembran zu funktionellen Veränderungen führt. Im Vergleich zu Kontrolltieren konnte bezüglich nachfolgender Parameter kein signifikanter Unterschied gefunden werden: osmotische Resistenz; intrazelluläre Natrium- und Kaliumkonzentration. Die Aminosäure Leuzin wurde jedoch von Erythrozyten mit essentiellem Fettsäuremangel signifikant vermehrt aufgenommen als von Erythrozyten der Kontrolltiere. Kinetische Untersuchungen stützen die Vermutung, daß essentieller Fettsäuremangel die passive Komponente des Transportes verstärkt.
    Notes: Summary Various membrane transport functions have been studied in erythrocytes from essential fatty acid (EFA) deficient rats in order to determine whether or not functional abnormalities induced by documented EFA-deficiency of the membrane could be demonstrated. No differences were found between EPA deficient and control cells with respect to mean values for osmotic resistance or intracellular sodium and potassium concentrations. However, uptake of leucine by EFA deficient erythrocytes was significantly greater than that of control erythrocytes. Kinetic studies suggest that EFA deficiency enhances the passive diffusion component of this transport.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02023725
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  • 3
    Electronic Resource
    Electronic Resource
    Development of thyroid gland volume during the first 3 months of life in breast-fed versus iodine-supplemented and iodine-free formula-fed infants (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 13-20 
    Details
    ISSN: 1432-1440
    Keywords: Thyroid gland volume ; Breast feeding ; Formula feeding ; Iodine supplementation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The spontaneous development of thyroid gland volume (TGV) during the first 3 months of life was studied in entirely breast-fed infants (n = 21) and compared to those fed an iodine-supplemented formula (n = 19), an iodine-free formula (n = 5), or partially breast-fed in addition to an iodine-free (n = 4) or an iodine-supplemented formula (n =16). The TGV of the infants and their mothers was determined sonographically in addition to their urinary iodine concentrations 57 days postpartum and 3 months later. In ten additional lactating mothers the breast milk concentrations of thyroid hormones and iodine were determined. It was shown that at 3 months of age an infant consuming about 1000 ml breast milk per day receives about 2 μg thyroid hormones and 55 μg iodine per day. At the end of their first week of life the infants showed a TGV between 0.28 and 1.5 ml (median 0.61 ml) and a urinary iodine concentration between 0.03 and 16.3 μg/dl (median 3.0 μg/dl). At 3 months of age the TGV of the breast-fed infants had decreased by a median of 0.24 ml (= −34%; median of percentage changes) whereas those fed a formula without iodine had increased by a median of 0.26 ml (= + 50%; median of percentage changes). Those receiving an iodine-supplemented formula showed a TGV reduction of 0.14 ml (= +2%; median of percentage changes). The TGV development of the partially breast-fed infants lay between those being exclusively breast or formula fed. It is concluded that with respect to the development of TGV, breast milk is superior even to the feeding of an iodine-supplemented formula.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210957
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  • 4
    Electronic Resource
    Electronic Resource
    Urinary factors of kidney stone formation in patients with Crohn's disease (1988)
    Springer
    Journal of molecular medicine 66 (1988), S. 87-91 
    Details
    ISSN: 1432-1440
    Keywords: Crohn's disease ; Nephrolithiasis ; Oxalate ; Magnesium ; Citrate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An increased frequency of kidney stone formation is reported in patients with inflammatory bowel disease. In order to investigate its pathogenesis, the concentrations of factors known to enhance calcium oxalate stone formation (oxalate, calcium, uric acid) as well as of inhibitory factors for nephrolithiasis (magnesium, citrate) were determined in the urine of 86 patients with Crohn's disease and compared with those of 53 metabolically healthy controls. Six patients with Crohn's disease already had experienced calcium oxalate nephrolithiasis. Patients with Crohn's disease had significantly higher urinary oxalate and lower magnesium and citrate concentrations. Among all patients magnesium and citrate were significantly lower in those with a positive history of kidney stones. Our results demonstrate that the increased propensity for renal stone formation in patients with Crohn's disease is a result not only of increased urinary oxalate, but also of decreased urinary magnesium and citrate concentrations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01774220
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  • 5
    Electronic Resource
    Electronic Resource
    Aspekte trophischer Wirkungen von Nahrungsinhaltsstoffen an der Darmwand (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. S57 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Glutamin ; Kurzkettige Fettsäuren ; Butyrat ; Gastrin ; Wachstumsfaktoren ; Key words Glutamine ; Short chain fatty acids ; Butyrate ; Gastrin ; Growth factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Nutrients and trophic factors independent of nutritional substrates influence the proliferation and the differentiation of the cells that make up the intestinal wall. The resorptive mucosa must be differentiated from immunologically active cells of the ”gut-associated lymphatic tissue” (GALT). Glutamine is the main oxidative substrate of enterocytes and an important nitrogen donor; its importance becomes apparent in very sick patients. The amino acids arginine and ornithine are mainly important for immunological gut cells as precursors of NO and polyamine synthesis. Complex carbohydrates are fermented in the lower gut portions to short-chain fatty acids, mainly acetic, propionic and butyric acid. The trophic effect of these acids is also mediated via an improvement of blood flow. Among the trophic substances independent of nutrients are the hormones gastrin and enteroglucagon and various growth factors, contributing to the maintenance of a eutrophic gut mucosa.
    Notes: Zusammenfassung Nährstoffanteile sowie auch nährstoffunabhängige trophische Faktoren beeinflussen sowohl die Proliferation als auch die Differenzierung unterschiedlicher Zellbestandteile der Darmwand. Die resorptive Mukosa muß dabei gedanklich von immunologisch wirksamen Zellen des Darm-assoziierten lymphatischen Gewebes (GALT) unterschieden werden. Glutamin ist das oxidative Hauptenergiesubstrat von Enterozyten und ein wesentlicher Lieferant von Synthesestickstoff. Diese Bedeutung von Glutamin wird v.a. bei Schwerkranken deutlich. Die Aminosäuren Arginin und Ornithin haben v.a. als Ausgangssubstanzen der NO- und der Polyaminsynthese Bedeutung für die Eutrophie immunkompetenter Darmzellen. Fermentable Kohlenhydrate werden in den unteren Darmabschnitten bakteriell zu hauptsächlich den kurzkettigen Fettsäuren Azetat, Propionat und Butyrat vergoren. Diese üben u.a. über eine Verbesserung des Blutflusses eine trophische Wirkung auf die Kolonschleimhaut aus. Unter den nahrungsunabhängigen Substanzen sind es v.a. die Hormone Gastrin und Enteroglukagon sowie auch unterschiedliche Wachstumsfaktoren, die zum Erhalt einer eutrophen Schleimhaut beitragen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014767
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  • 6
    Electronic Resource
    Electronic Resource
    Möglichkeiten und Grenzen der Behandlung der nonketotischen Hyperglyzinämie 4 Fälle (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 100-104 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Nonketotische Hyperglyzinämie ; Dextromethorphan ; Key words Nonketotic hyperglycinemia ; Dextromethorphan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Patients: We report on four infants with nonketotic hyperglycinemia, three with a neonatal form and one with the milder infantile form. Despite early diagnosis and persistent therapy including dextromethorphan and sodium benzoate, two infants with the neonatal form deteriorated progressively and died at the age of 16 and 50 months, respectively, only one survived severely retarded with seizures, opisthotonus and spastic quadriplegia. The serum concentrations of glycine decreased following sodium benzoate treatment but cerebrospinal fluid/serum glycine ratio remained elevated with no improvement in clinical outcome. The patient with the infantile form has been treated for over three years with dextromethorphan, and is now a severely retarded child without seizure activity and continuous psychomotor development. Discussion: Symptomatic therapy including grand mal anticonvulsive drugs may be considered in neonatal hyperglycinemia as there are irreversible prenatal brain damage and a lack of therapeutic success. Its positive tendency in our infantile case suggests that dextromethorphan therapy may provide a better outcome only in infantile forms. Since no effective treatment is available, prenatal diagnosis in families at risk is of paramount importance.
    Notes: Zusammenfassung Patienten: Wir berichten über Therapie und Verlauf bei 4 Patienten mit nonketotischer Hyperglyzinämie, 3 Mädchen mit neonataler und 1 Junge mit infantiler Form. Trotz früher Diagnosestellung und Mehrfachtherapie inklusive Dextromethorphan und Na-Benzoat kam es bei 2 Mädchen mit neonataler Form zu einem therapierefraktären Verlauf und zum Exitus im Alter von 16 bzw. 50 Monaten, die 3. Patientin überlebte mit schwerster psychomotorischer Retardierung, Opisthotonus, Tetraspastik und Anfallsleiden. Na-Benzoat führte zwar zu einer Absenkung der Glyzinkonzentration (bei stets pathologischer Liquor-Serum-Glyzin-Ratio), konnte den deletären Verlauf jedoch nicht beeinflussen. Der Patient mit der infantilen Form ist schwer psychomotorisch retardiert, zeigt aber unter Dextromethorphan seit nunmehr über 3 Jahren stete Entwicklungsfortschritte und Anfallsfreiheit. Diskussion: Bei der neonatalen nonketotischen Hyperglyzinämie kann derzeit nur eine symptomatische Therapie inklusive eines Grand-mal-Schutzes empfohlen werden, da die Hirnläsion bereits intrauterin erworben und keine effektive Therapie bekannt ist, bei der infantilen Form ist ein Therapieansatz mit Dextromethorphan gerechtfertigt. Eine Pränataldiagnose in „Risikofamilien” ist unverzichtbar.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050251
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  • 7
    Electronic Resource
    Electronic Resource
    Protein load in argininosuccinic aciduria: thoughts on its biochemical implications (1978)
    Springer
    European journal of nutrition 17 (1978), S. 65-71 
    Details
    ISSN: 1436-6215
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Medicine
    Description / Table of Contents: Zusammenfassung Eine Patientin mit Argininbernsteinsäureerkrankung wurde mit 50 g Eiweiß belastet. Die Belastung wurde von einer beträchtlichen Hyperammoniämie gefolgt. Es erfolgte keine gesteigerte Harnstoffbildung; jedoch trat eine kräftige Orotsäureausscheidung, ein Vorläufer der Pyrimidinsynthese, auf. Hierdurch wird Orotsäure zu einer bei der Diagnose von Störungen der Harnstoffsynthese bedeutsamen Substanz. Die Veränderung der Plasmaaminosäuren der Patientin nach der Proteinbelastung weist möglicherweise auf eine vermehrte zytostolische Carbamylphosphatneubildung und nicht auf die Verwendung von aufgestautem, intramitochondrialem. Carbamylphosphat für die Pyrimidinsynthese hin.
    Notes: Summary A patient with argininosuccinic aciduria was charged with 50 grams of protein, which was followed by considerable hyperammonemia. There was no response in further urea formation; but there was a considerable production of orotic acid, a precursor of pyrimidines. This makes orotic acid to an important diagnostic tool for the diagnosis of impaired urea formation. The patient's plasma amino acid pattern led to the suggestion that orotic acid synthesis is initiated by increased de novo formation of carbamyl phosphate in the cytosol and not by deviation of already existing intramitochondrial carbamyl phosphate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02021112
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  • 8
    Electronic Resource
    Electronic Resource
    Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 413-417 
    Details
    ISSN: 1432-1076
    Keywords: Galactosaemia ; Neurological abnormalities ; Basal ganglia structures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Progressive cerebellar and extrapyramidal motor disturbances are described in two 16-year-old female twins with classical galctosaemia. The neurological disturbances, characterized by hyper- and dysmetric movements and bilateral intention tremor with choreatic, atactic and even ballistic motor storms, appeared at 12 years of age. Computerized tomography demonstrates cerebral atrophy in cerebellar, brain stem and basal ganglia structures. The central conduction times, determined by somatosensible evoked potentials, are grossly prolonged; the peripheral nerve conduction velocities are normal. The neurological sequelae described are considered a distinct entity in the course of galactosaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439251
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  • 9
    Electronic Resource
    Electronic Resource
    Foamy myocardial transformation in a child with a disturbed respiratory chain (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 582-586 
    Details
    ISSN: 1432-1076
    Keywords: Foamy myocardial transformation ; Lactic acidosis ; Respiratory chain defect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A female infant presented with signs of general muscle hypotonia and increasing hypertrophy of the heart muscle. There was a constant lactic acidosis worsened after glucose intake. Serum lactate levels were increased up to 6.7 mmol/l. Serum alanine levels reached maximum concentrations of 2800 μmol/l. The patient died after sudden cardiac arrest at 22 months of age. Histology of the heart showed the pattern of foamy myocardial transformation with accumulation of mitochondria and an increased glycogen content. Biochemical analysis of the skeletal muscle and the heart demonstrated signs of a disturbed respiratory chain. The content of cytochromeaa3 protein was decreased in skeletal muscle and heart mitochondria. It is suggested that respiratory chain defects may be the cause of foamy myocardial transformation of the heart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02467358
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  • 10
    Electronic Resource
    Electronic Resource
    Development of the nervous and cardiovascular systems in low-birth-weight infants fed a taurine-supplemented formula (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 296-299 
    Details
    ISSN: 1432-1076
    Keywords: Taurine ; Low-birth-weight infants ; Formula feeding ; Heart and brain function
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An adapted cow's milk formula with or without supplemental taurine (480 μmol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th, weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine concentration of plasma and urine. None of the parameters investigated was influenced by taurine supplementation except the urinary taurine excretion. At least according to these data, the addition of taurine to whey-predominant infant formulae seems to be unnecessary for the development of heart and brain function in low-birth-weight infants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442699
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