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311.
312.
Chorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total β-hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 μmol/h/g protein; control range: 3227-24 495/miol/h/g protein). The β-hexosaminidase isoenzyme pattern was found to be normal. These results were confirmed on cultured amniotic fluid cells. In case 2, the total Hex activity was 672 μmol/h/g protein, i.e., 7 per cent of the control mean (10 085 μmol/h/g protein), and chromatography demonstrated that more than 50 per cent of this activity was due to the abnormal isoenzyme β-hexosaminidase S (Hex S). The fetus was predicted to be affected by Sandhoff's disease and this was confirmed on fetal tissues after termination of pregnancy. This study demonstrates that a fetus affected by Sandhof's disease can be reliably diagnosed during the first trimester of pregnancy. 相似文献
313.
E. Vamos J. Libert N. Elkhazen E. Jauniaux J. Hustin P. Wilkin J. Baumkötter K. Mendla M. Cantz G. Strecker 《黑龙江环境通报》1986,6(6):437-446
Amniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell-free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA-soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane-bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts. 相似文献
314.
315.
当含萘卫生球被鉴定为有毒商品,国内外传媒界便把目光一齐投向卫生球主要消费地-家庭,大家都围绕"卫生球危害家庭"这一主题作文章.其实,档案馆是萘卫生球危害的重灾区,萘带给档案馆工作人员的健康损害同样严重;其所造成的环境污染较之家庭更难清除,因此亟待引起有关方面的重视.本文援引国内外最新情报,以"家庭萘污染案"为参照模型,阐述了萘污染在档案馆的存在、危害和防治对策. 相似文献
316.
The features of oxidative damage to type II collagen from pig cartilage, induced by · OH, O2- and fulvic acid from epidemic district of KBD, were studied in vitro. The results from amino acid analysis of the damaged collagen are characterized by a decrease in hydroxyproline and proline contents, and an increase in glutamic acid content. The change arc dependent on·OH and FA concentration. It is postulated that the FA or other toxic xenobiotics induce the generation of free radicals, which play the role of the trigger in KBD development. 相似文献
317.
318.
Tang Jiajun 《环境科学学报(英文版)》1991,(4)
Altemaria alternata were isolated from wheat seeds collected from villages in Tianshui area of Gansu Province where Kaschin-Beck disease is prevalent. TLC, IR and UV analyses of metabolic extract of A. alternata show that A. alternata produce main secondary metabolites, including alternariol, alternariol methyl ether, and tenuazonic acid.There was a significant decrease in Se-GSH-Px and SOD activities, and an acceleration in lipid peroxidation in rats fed with a diet containing metabolites produced by A. alternata. 相似文献
319.
Prenatal diagnosis of Tay-Sachs disease was performed using the sulphated substrate 4- methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β-D-glucopyranoside to detect hexosaminidase A in chorionic villi. The presence or absence of hexosaminidase A in villi was detected by both a quantitative enzyme assay, and by a rapid, novel procedure which permitted visual discrimination between normal and affected villi. 相似文献
320.
A 38-year-old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of β-glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY, + 21 cells which were deficient in β-glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells. 相似文献