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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 276-277 
    ISSN: 1432-1076
    Keywords: Sudden infant death syndrome ; Gluconeogenic enzymes ; Fibroblasts ; Hypoglycemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The activities of mitochondrial phosphoenolpyruvate carboxykinase (PEPCK), pyruvate carboxylase (PC), and total malic enzyme (ME) were determined in cultured fibroblasts from 74 infants diagnosed as having died from the Sudden Infant Death Syndrome (SIDS) and 36 infants who died from known causes. In addition, the glycemic state of infants was measured by determining the ‘maximum’ glucose present in plasma and cerebral spinal fluid (CSF) based on the following formula: glucose (maximum) = glucose + 1/2 (lactate). There were no statistical differences between SIDS and control infants in any of the three enzymatic activities measured in fibroblasts or in the estimated ‘maximum’ glucose values in plasma or CSF. The present results do not support the involvement of hypoglycemia as a cause of death in SIDS.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Exposure to ethanol during only the last week of gestation in the rat resulted in significantly decreased weight and levels of norepinephrine in the hypothalamus of the offspring after 26 weeks on standard diet compared with appropriate controls.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 43 (1984), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Two strains of Mus musculus musculus, C57BL/6J and CD-1, and Mus musculus poschiavinus, the tobacco mouse, were used to study the effects of increased gene dosage of mouse chromosome 16 (MMU 16). A developmental delay has been found in the brains of murine trisomy 16 (Ts 16) fetuses. Both the brain weight (in all three strains) and DNA content (in CD-1) were reduced, while protein content was unchanged in Ts16 compared to normal littermates. The daily increments of weight and protein (except in M. m. poschiavinus) were significantly greater in Ts16. The activities of choline acetyltransferase and acetylcholinesterase and nuscarinic receptor binding were reduced. Their daily increments were also reduced to less than 56% that of littermates in Ts16 brains. The rate limiting enzymes of Catecholaminergic neurons, tyrosine hydroxylase and do-pamine β-hydroxylase, and the concentration of catecholamines in the brains of Ts16 animals were lower. The activities of three other Catecholaminergic enzymes, DOPA decarboxylase, catechol O-methyltransferase, and monoamine oxidase, were generally elevated in Ts16 brain, as were their daily increments. These observations indicate a significant developmental alteration in the maturation of the trisomic brain and suggest future avenues for defining the effect of increased gene dosage of MMU 16 in the CNS.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: The comparative effects of exposure to ethanol and malnutrition on the concentrations of tyrosine and catecholamines in whole brain and selected regions of brain have been studied in the developing rat. These animals were the offspring of optimally nourished rats (control pups), of rats fed a diet with 35% of the calories supplied by ethanol (ETOH pups), or of animals fed a diet calorically equivalent to the latter but lacking ethanol (iso-caloric, 1C pups). These diets were administered to dams either during the last week of gestation (prenatal) or during lactation (postnatal). Tyrosine levels were elevated prior to birth in the prenatal ETOH or IC pups or at 1 and 2 weeks of age in postnatal ETOH or 1C pups as compared with values found in the control offspring. Dopamine concentration in whole brain was significantly lower in prenatal ETOH pups than in prenatal IC pups at 3 weeks of age. Levels in the brains of postnatal ETOH pups were lower than control values, but not relative to animals exposed to 1C diet. Investigation of corpus striatum showed a significant decrease in dopamine concentration compared with control or IC pup values as a result of postnatal exposure to ethanol. Norepinephrine levels in the whole brain of prenatal ETOH pups were consistently 30–40% lower than either control or matched 1C pups during development. At 3 weeks of age, the norepinephrine levels in the hypothalamus of animals exposed to ethanol pre or postnatally were 30–60% lower than values in the corresponding region in either control or 1C pups. In the rat model described, ethanol caused a decrease in catecholamine levels, perhaps solely by affecting the norepinephrine neurons.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 25 (1975), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract— Newborn rats from dams fed on a high fat diet developed increased ketonemia and significant hypertriglyceridemia i.e. “hyperketonemic pups”. This perinatal metabolic stress led to an alteration in the developmental pattern of glycolytic intermediates in their brains.In control rats, the concentration of glucose 6-phosphate (G6P) in the brain was high at birth, and gradually decreased to adult values by the third week of life. In contrast, the fructose-1,6-diphosphate (FDP) concentration was low at birth and increased thereafter. The lactate concentration was also high at birth but decreased to the adult level by the first day of life. In the brains of control pups, lactate and pyruvate concentrations remained relatively constant during the first 3 weeks of life.In the brains of hyperketonemic pups, the concentration of G6P was the same as in the control animals at birth but decreased significantly during the first days of life. During early development the concentrations of FDP and pyruvate were significantly lower and the concentration of lactate, higher in the hyperketonemic pups as compared to the control group. The alteration in the concentration of these glycolytic intermediates in the brains of hyperketonemic pups indicated a change in the developmental pattern of glycolysis. The ratio of [lactate]/[pyruvate] also suggested an increased cytoplasmic redox potential in the brains of hyperketonemic pups during the first week of life.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 25 (1975), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract— The effect of increased exposure to ketone bodies in the developing rat brain suggest that intrauterine and postnatal hyperketonemia lead to an altered metabolism of glutamine and glutamate. It is postulated that this effect is related to the delayed development of glutaminase (l-glutamine amido-hydrolase EC 3.5.1.2) and glutamate dehydrogenase (l-glutamate: NAD oxidoreductase EC 1.4.1.2).The specific activities of glutamate dehydrogenase (GDH), glutaminase and glutamine synthetase (l-glutamate: ammonia ligase EC 6.3.1.2) in the brains of newborn rats increased during early development. A positive correlation was observed between the specific activity of glutaminase and the concentration of glutamate in the brain as well as between the concentrations of blood and brain glutamine and glutamate in both control and hyperketonemic pups. This indicates a different degree of permeability and metabolism for glutamine and glutamate in the brain during the neonatal period, as compared to adulthood.In hyperketonemic pups, glutamine and glutamate metabolism were found to differ from that in control animals. The concentrations of glutamate were higher, and glutamine lower, in both the blood and brain as compared to that in controls. The concentrations of α-ketoglutarate were also lower in their brain. In the brains of hyperketonemic and control pups, the concentration of malate was the same. During the first 3 weeks of life the increase of spec. act. of GDH and glutaminase was found to be suppressed in the brains of hyperketonemic pups. However, the spec. act. of glutamine synthetase was similar to that of the control pups.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 443-444 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 849-861 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The frequency of different types of lysosomal storage diseases in 125 referred cases, collected over three years, was compared to the occurrence elsewhere. The data suggest that mucopolysaccharidosis (MPS) type IVA (Morquio disease), multiple sulphatase deficiency, Niemann-Pick disease type B, GM2 gangliosidosis type ‘0’ (Sandhoff disease), and ceroid lipofuscinosis (Jansky-Bielschowsky and Batten-Spielmeyer-Vogt syndromes) are encountered frequently in Saudi Arabia, as compared to other storage diseases. In contrast, some other diseases such as the adult variant of Gaucher's disease were not observed. Half of the GM2 gangliosidosis type ‘0’ cases originated from one large tribe in the country. Other conditions did not show tribal predilection. The ceroid lipofuscinosis cases in Saudi Arabia originated from four large families. Consanguineous marriages taking place within tribal boundaries probably account for the pattern observed.
    Type of Medium: Electronic Resource
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