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191.
Prenatal monitoring of three pregnancies at risk of Morquio's disease type A by determination of N-acetylgalactosamine 6-sulphate sulphatase activity in cultured amniotic cells is reported. In one pregnancy prenatal diagnosis of one affected fetus was made. Enzyme determinations in tissues of the aborted fetus confirmed the prenatal diagnosis. 相似文献
193.
Livia Poenaru Christine Mezard Said Akli Jean-François Oury Yves Dumez Joëlle Boue 《黑龙江环境通报》1990,10(4):231-235
We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy. 相似文献
194.
Livia Poenaru 《黑龙江环境通报》1987,7(5):333-341
This paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods using chorionic villi. In all, 258 diagnoses were made for 38 different metabolic diseases and 56 (22 per cent) affected fetuses have been detected. Several difficulties were encountered with regard to chorionic villus material or enzyme expression in this tissue. We stress the conditions necessary for avoiding errors in diagnosis. 相似文献
195.
Prof. F. Roels V. Verdonck M. Pauwels L. de Catte W. Lissens I. Liebaers M. Elleder 《黑龙江环境通报》1987,7(7):525-530
Peroxisomes and their metabolites the plasmalogens were visualized in chorionic villi by quick and simple procedures. Villi were stained and mounted in toto, and can also be embedded. These methods may contribute to early prenatal diagnosis of peroxisomal disorders (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease a.o.). 相似文献
196.
Antonella Minelli C. Danesino F. Lo Curto Patrizia Tenti Clementina Zampatti G. Simoni Franca Rossella A. Fois 《黑龙江环境通报》1988,8(1):47-52
Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-a-D -glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy. 相似文献
197.
Fetal obstructive bowel disease was diagnosed in 29 patients at 22–37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69, XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic ‘double bubble’ sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20). 相似文献
198.
Prenatal diagnosis for Tay-Sachs disease was performed on 25 patients using chorionic villus sampling (CVS). Nineteen were diagnosed as normal, and six were affected. Normal villus extracts had both hexosaminidase (hex) A and B activity, as determined by Cellogel and polyacrylamide gel electrophoresis, while extracts from affected fetuses had only hex B activity. Compared to cultured amniotic fluid cells or fibroblasts, villi contained less hex A. Hex A levels in fresh villi and cultured trophoblasts were roughly comparable. 相似文献
199.
我国“硒与健康”数据库应用DATATRTIEVE数据管理系统管理数据;在VAX-11/780计算机上实现。它以我国公开刊物和文集为数据源。现存有五千个记录,约400种样品,遍及28个省市,主要反映的是克山病、大骨节病、硒中毒、某类癌症、心脏病等。依关键词:样品名、省、县、健康属性、分析方法等可以检索并输出所需样品含硒量数值报表。数据库能自动实现检索集合极大值、极小值选择,计算均值和标准差,进行单因素数据质量评价,并配有FORTRAN语言编写的模式识别为主的多元统计程序包,有助于多因素数据质量评价。 相似文献
200.
Geographical differentiation of selenium concentration in hair from children and youngsters in China
Wang Mingyuan 《环境科学学报(英文版)》1990,2(3):99-105
Selenium concentration in hair are sorted out into three classes, i.e. low (<110 ppb), medium (110-520 ppb) and high (>520 ppb) according to the principle of multiple normal distribution and a map of classification of selenium concentration in hair from children and youngsters in China has been drawn. Selenium insufficiency in relation to Keshan disease and Kashin-Beck's disease is expounded. Geographical differentiation of hair selenium concentrations and its causes are explained. 相似文献