First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

通过调节汽油中铅的使用来控制人体血铅浓度

在20世纪60～70年代,铅排放一直保持着最大速率,之后,由于工业国家采取了日益严格的政策来限制铅作为防爆剂在汽油中使用,使得含铅汽油已经变得很少见了.我们利用欧洲铅排放量(PbE)和空气浓度(PbC)的重建及对约1980年以来德国人体血铅浓度(PbB)的重复测定,建立了一个可由铅排放量(PbE)估计人体血铅浓度(PbB)的经验模型.采用这一模型有两种用途[1]估计六七十年代德国的PbB水平,当时铅排放量最大而人体血铅水平监测尚未开始.结果显示,血铅峰值已经达到了卫生官员认为对胎儿和儿童有潜在危害的平均水平.[2]估计PbB水平将如何因有关汽油中铅使用的法规的实施而变化.模型估计,如果没有或延迟法规,PbB水平将远远超过临界水平.因此,自20世纪70年代以来,德国制定的法规已经明显降低了铅对健康的危害.