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A girl was born to a mother who had undergone treatment for epilepsy with carbamazepine during pregnancy. The infant had dysmorphic features and was physically and mentally retarded. We consider that the malformations were the result of the maternal treatment with carbamazepine.  相似文献   

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Malignant hyperthermia is a rare disease triggered by succinylcholine and the volatile anesthetic agents in genetically predisposed individuals. Recent studies have implicated an abnormality in the calcium release channel of the sarcoplasmic reticulum in skeletal muscle as the likely etiology. Genetic studies have narrowed the search for the chromosomal abnormality to human chromosome 19. Although the mortality from this disorder has dramatically decreased in the past decade due to the discovery of dantrolene, elective diagnosis of the disorder is only now appearing on the horizon.  相似文献   

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E Robert 《Pédiatrie》1991,46(8-9):579-583
This paper presents a review of the literature regarding the risks of birth defects in infants born of an epileptic mother or father. It appears that epileptic women on anticonvulsant drugs have a 2-3-fold greater risk of delivering a baby with a major malformation. The risk is more specific for facial clefts, congenital heart defects and spina bifida. The risk increase for mild anomalies, especially facial dysmorphology, is evaluated in a very variable manner (5-45%). The respective roles of the disease itself and its treatment are discussed; it seems likely that genes play a part in the general risk increase, but that maternal epilepsy plays a more important role than paternal epilepsy, and that therefore a non-genetic mechanism exists. One hypothesis could conciliate all theories (genes, seizures during pregnancy, teratogenic effect of drugs), ie that of the existence of genetically-determined differing susceptibility to drugs. Monotherapy seems to induce a lower risk than polytherapy, and is thus to be preferred if clinically possible. Because of minor differences in teratogenic effect between drugs (with the exception of a more specific association between sodium valproate and spina bifida), choice should be determined by the particular therapeutic necessities, with suitable surveillance of the pregnancy.  相似文献   

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ABSTRACT This study was conducted to examine the effects of concanavalin A (Con A) on rat neurulation. Con A was injected intravenously to pregnant rats at a single dose of 5, 10, or 20 mg/kg between gestational days (GD) 7.5 and 10.0, and the embryos were macroscopically examined on GD 11.5. Con A induced a high mortality rate, the treatment with 10 and 20 mg/kg on GD 9.5 was completely lethal. Con A caused a high incidence of neural tube defects (NTD), the incidence in the 10 mg/kg on GD 8.0 and 8.5 groups and in the 20 mg/kg on GD 8.0, 8.5 and 9.0 groups being significantly higher than that in the control group. Histological evaluation revealed that Con A inhibited neural tube expansion and altered neural crest cell shape. In the Con A-treated embryos, the stratified structure of the neuroepithelium was irregular and its extracellular space was expanded. In rat embryos from intact dams, the distribution of receptors for Con A was demonstrated histochemically on the cell surfaces around neurulation sites between GD 8.5 and 10.5, but not on GD 7.5. These findings indicate that Con A bound around the neurulation sites in rat embryos may disturb the cell-cell communication required to form the neural tube, resulting in NTD.  相似文献   

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The role of vitamin A in preventing diaper dermatitis was evaluated in a double-blind, randomized, prospective study in which 114 newborns were enrolled over an 11-month period. Patients in Group A (58 infants) were treated with a cream that contained 1,000 IU/g of vitamin A, whereas patients in Group B (56 infants) were treated with a cream that had the same composition, but it did not contain vitamin A. Each participant returned once every 15 days for six follow-up visits.  相似文献   

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ABSTRACT. An infant with arthrogryposis and mental retardation is presented. The mother had a septic shock with hyperthermia in the 20th gestational week. The possible relationship between these events is discussed.  相似文献   

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Teratogenic effects of benzodiazepine use during pregnancy   总被引:1,自引:0,他引:1  
Eight children exposed in utero to benzodiazepines had characteristic dysmorphic features, growth aberrations, and central nervous system abnormalities from birth. Their dysmorphic characteristics resembled those of the fetal alcohol syndrome, although they had greater focal involvement of cranial nerves, with a sullen and expressionless face, and they more often had impairment of vitality at birth. One infant died and at autopsy had varying degrees of distortion of neuronal migration, with concomitant heterotopias. Five of the eight mothers had regularly consumed benzodiazepines, and the three remaining mothers had blood samples during pregnancy revealing benzodiazepine concentrations indicative of regular use. Our findings indicate that maternal consumption of benzodiazepines may be teratogenic in humans.  相似文献   

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Teratogenic effect of semicarbazide in Wistar rats   总被引:2,自引:0,他引:2  
Five groups of pregnant Wistar rats were injected intraperitoneally with a single dose of semicarbazide (SC) on day 5, 7, 10, 13, or 15 of gestation. The lots in each group received either 50, 75, 100 or 150 mg/kg SC. A sixth group received 17 mg/kg of the drug during the entire course of pregnancy. SC produced a significantly smaller number of live fetuses with respect to controls. This toxic effect after injection at days 7 and 10 of gestation was highest for all single doses. The mean of fetal weight decreased with respect to controls with almost all of the SC treatment studied. The number of implantations and live fetuses was significantly decreased in the rats receiving the continuous treatment. Most abnormalities in the 21-day-old fetuses were found in the brain, kidney, intestines and liver; skeletal anomalies were seen in the skull, sternum and ribs. SC also produced high postnatal mortality rates during the first month of life with the single doses as well as with the continuous treatment. Thus, SC produced signs of toxicity and/or teratogenic effects in rats with all doses administered.  相似文献   

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