Amniocentesis and the diseases of the unborn.
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Immature rats were made diabetic with streptozotocin or were fed a 40% galactose diet to stimulate the polyol pathway. Separate diabetic and galactosaemic groups were treated with butylated hydroxytoluene or trientine. After 4 weeks the sciatic nerve was freeze-lesioned. Two weeks later, the degree of myelinated fibre regeneration was assessed electrophysiologically and nerve conduction velocity was measured in the contralateral leg. Similar sciatic motor and saphenous sensory nerve conduction velocity deficits of approximately 18% and 19%, respectively, compared to age-matched control rats were found in both models. They were partially prevented by treatment (approximately 68% for butylated hydroxytoluene and 63% for trientine). There were 12% and 10% deficits in nerve regeneration distance with diabetes and galactosaemia respectively, which were markedly attenuated (approximately 80%) by both treatments. The data emphasise the importance of elevated, free radical activity for the aetiology of neural/neurovascular deficits in experimental diabetes and galactosaemia.
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Events of synthesis and degradation of water-soluble and -insoluble rat lens proteins were examined during a 21-day period of galactose-induced cataractogenesis. Epithelial cells continued to synthesize both fractions of proteins throughout the duration of the experiment. There were few qualitative changes in the pattern of proteins expressed and the rate of synthesis did not decrease. In contrast, synthesis of both water-soluble and -insoluble proteins by the cortical cells decreased and then became totally inhibited indicating no selective or differential inhibition of synthesis of one protein fraction, but that both water-soluble and -insoluble proteins in the cortical cells are equally affected by the metabolic changes associated with galactose-induced cataractogenesis. The cells within the nuclear region of control lenses were capable of incorporating [35S]-methionine into protein. This synthesis was completely abolished in 7- and 14-day nuclear cells. Labeled proteins were found to be present in the 21-day nuclear preparation to a level almost three times greater than that observed in the control nucleus. Degradation was minimal in both fractions of epithelial proteins, whereas selective degradation of proteins from both fractions was apparent in 14- and 21-day cortical cells. At day 14, the water-soluble protein profile from nuclear cells became less complex with the loss of several major bands, but these bands as well as some unique bands appeared at day 21. The profile of water-insoluble nuclear proteins remained unchanged over 21 days.
The present study allows the conclusion that low Gal-1-P transferase activity resulting from GtD/gt heterozygosity is not an major cause of early ovarian failure. However, larger groups of patients need to be examined to fully exclude an association between these rare conditions.
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Blood galactose concentrations were measured in 55 neonates consuming at least 80 ml/kg/day of lactose-containing formula. The range of galactose concentration immediately after feeding was 0.8 to 4.2 mg/dl, with a mean of 1.5 +/- 0.2 mg/dl. Galactose concentration fell rapidly after feeding, and normal values for the population fell with a half-life of 45 minutes. Considering galactose as a potential intravenous nutrient, six glucose-intolerant premature infants were given galactose-containing solutions intravenously using a double-blind randomized crossover protocol. Infants were chosen who had sustained hyperglycemia (150 mg/dl) and glucosuria (2+ Clinitest) requiring glucose infusion at a rate below 7 mg/kg/minute for more than 24 hours. Compared to the control glucose period, intravenous alimentation with a solution containing carbohydrate as 50% glucose and 50% galactose resulted in a 65% increase in total carbohydrate infusion rate, normalization of the blood glucose concentration, and decreased glucosuria. Blood galactose concentration averaged 15 mg/dl, and no clinical or biochemical evidence of galactose toxicity was noted.
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