排序方式: 共有15条查询结果,搜索用时 15 毫秒
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H. Werner Jr V. Mirlesse F. Jacquemard P. Sonigo A. L. Delezoide M. Gonzales F. Brunelle L. Fermont F. Daffos 《黑龙江环境通报》1994,14(12):1151-1154
Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings. 相似文献
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Lawrence D. Platt M.D. Greggory R. Devore Janet Horenstein Zdena Pavlova Bruce Kovacs Rena Ellen Falk 《黑龙江环境通报》1987,7(6):407-411
Fetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen. 相似文献
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A pilot study of the relationship between multiple sclerosis and the physical environment in northwest Ireland 总被引:1,自引:0,他引:1
Multiple sclerosis (MS) is a neurological disease of unknown origin, but it is thought likely to have an environmental component in addition to genetic predisposition. It appears common in areas with underlying radon-producing granites. Radon exposure before the age of 15 years is postulated as a contributory cause in genetically susceptible individuals. Pilot studies were undertaken, with results which indicate that radon exposure may be a factor, and that the hypothesis warrants further investigation. 相似文献
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D. Chitayat B. C. McGillivray M.D. S. Diamant B. K. Wittmann G. G. S. Sandor 《黑龙江环境通报》1988,8(8):577-584
Tuberous sclerosis is an autosomal dominant disease with variable expression. Little is known about the intrauterine course of the disease and the fetal age at which specific abnormalities may be detected. The role of prenatal detection of cardiac tumours in the diagnosis of two fetuses at 28 and 32 weeks' gestation based on fetal echocardiography is discussed. The prenatal and postnatal course of the disease is described. 相似文献