Fetal presentation of morquio disease type A

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of β-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.     

In utero sonographic diagnosis of diaphragmatic hernia with hepatic protrusion into the pericardium mimicking an intrapericardial tumour

A case of right-sided congenital diaphragmatic hernia was detected at 33 weeks of gestation. Fetal echocardiography revealed the presence of an intrapericardial mass (3.5 × 3 cm) localized at the right of the heart and surrounded by a massive pericardial effusion. This mass had the same echogenicity as the liver, with which it shared vascular channels. The diagnosis of right diaphragmatic hernia with protrusion of hepatic tissue into the pericardial sac and secondary pericardial effusion was made and confirmed after birth. In utero diagnosis of this anomaly enabled correct assessment of perinatal risk, and optimal fetal and infant management.     

废旧干电池对泥鳅的致毒作用

以抗污染能力强的泥鳅(Misgurnus anguillicadatus)为实验材料,研究了废旧干电池污染的水源对水生生物的毒害作用。结果表明,泥鳅受毒害程度与水体中废旧干电池的数量和暴露时间成正相关关系;对受毒害但未死亡的个体断尾取血,显微镜下观察血红细胞的形态、结构,发现在废旧干电池污染的水体中残存的个体,其血红细胞的变异率远远超过生活在正常水体中的个体。     

Holoprosencephaly: Prenatal diagnosis by sonography and magnetic resonance imaging

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).     

Amniotic fluid pregnancy-specific β1-glycoprotein (SP1) in fetal developmental disorders

Concentration of pregnancy-specific β1-glycoprotein (SP1) was studied in second and third trimester amniotic fluid from pregnancies with various fetal developmental disorders. The material consisted of 26 cases with chromosomal disorders and 19 cases with nonchromosomal fetal malformations. The SP1 concentration was elevated in two cases of Meckel's syndrome (mean + 2.7–4.0 S.D.) as well as in one case of fetal triploidy (mean + 22 S.D.), while it was normal in all other 14 different fetal disorders.     

Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities

The alpha subunit of human chorionic gonadotropin (alpha-hCG), human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) were measured in the serum of 25 women with chromosomally abnormal fetuses between 18 and 25 weeks of gestation and in 74 normal pregnancies. AFP levels less than 0.5 multiples of the median (MoM) or greater than 2.5 MoM were observed in 24 per cent of the abnormal pregnancies and in 6.76 per cent of the normal pregnancies. A low concentration of hCG (< 0.25 MoM) was observed in 8 per cent of abnormals and in 2.7 per cent of normals while an elevated concentration of hCG (>2.5 MoM) was observed in 56 per cent of abnormals and in 1.35 per cent of normals. Elevated hCG-alpha (>2.5 MoM) was observed in 28 per cent of abnormals and in none of the normals. Determination of elevated levels of hCG-alpha or hCG resulted in detection of 68 per cent of pregnancies with chromosomally abnormal fetuses with a false positive rate of 1.35 per cent. Determination of both elevated and depressed gonadotropin levels resulted in detection of 76 per cent of abnormal pregnancies with a false positive rate of 4.05 per cent. Measurement of hCG and hCG-alpha in maternal serum samples can be used as a screening procedure for detecting pregnancies at risk for fetal chromosome abnormalities.     

液相色谱法测定血中巴比妥类药物

本文建立了血样中巴比妥类药物的液相色谱定性定量分析方法，该法采用Ｃ１８反相色谱柱分离，二极管矩检测器检测，能一次性将４种药物分析和鉴定，通过色谱峰的保留时间和紫外吸收光谱定性，以色谱的峰面积定量，标准曲线的直线范围在０－１０μｇ．ｍ１＾－１，相关系数在０．９９以上。血中药物经溶浏萃取，回收率在９５％以上，血中的杂质不影响药物检测。方法的最小检出浓度为１０ｎｇ．ｍ１＾－１，本法可用于临床中毒样品的分     

镉致鸡血管氧化应激与金属硫蛋白含量的变化

为探讨镉(Cd)对血管抗氧化功能及金属硫蛋白(MT)的影响,将180只50日龄健康雌性海兰鸡随机分为3组(对照组、低剂量组和高剂量组),分别饲喂含0、140、210mg·kg-1(BW)CdCl2的基础日粮,在饲养20、40、60d后采集主动脉和前腔静脉,测定其MT含量,超氧化物歧化酶(SOD)、谷胱甘肽过氧化物酶(GSH-Px)活性及丙二醛(MDA)含量.结果表明:1)Cd暴露后,与对照组相比,低剂量组血管MT含量显著升高(p<0.01),并随暴露时间的延长而逐渐增加;高剂量组血管MT含量显著降低(p<0.01),并随暴露时间的延长先升高后降低.2)随着Cd暴露剂量的加大,血管SOD、GSH-Px活性逐渐降低,而MDA含量逐渐升高,具有明显的剂量-效应关系.3)随着暴露时间的延长,血管SOD、GSH-Px活性逐渐降低,MDA含量逐渐升高,具有明显的时间-效应关系.4)Cd暴露下,主动脉与前腔静脉各指标具有相同的变化趋势.以上结果表明,Cd具有血管毒性,其毒作用机理可能与MT含量变化以及抗氧化功能失衡有关.     

新疆干旱地区城镇居民硒水平

本文使用新极谱法对我国乌鲁木齐市和奎屯市的居民全血样品分别为９８例和５８例进行硒含量的测定，分别为７５．０１．４４２μｇ／１和１５８．７４１．６μｇ／１．乌鲁木齐市心血管疾病患者２０例，血硒含量为７２．３１．３８２μｇ／ｌ．乌鲁木齐市和奎屯市的水样中硒含量分别为１．７１μｇ／ｌ和３．０２μｇ／ｌ．乌鲁木齐市母乳２０例，硒含量为１１．８３．７７μｇ／ｌ．     

A co-operative approach to risk management in an active lead/zinc smelter community

Trail, Canada has been the site of a large lead/zinc smelting facility since 1916. In mid 1990, the Trail Community Lead Task Force was established and given responsibility for developing a strategy to reduce children's blood lead levels. With funding from the provincial government, the smelting company and the municipal government, the Task Force has carried out blood lead screening, case management, community education, exposure pathways modelling and remediation trials. The decline in children's blood lead levels appeared to accelerate following the implementation of these programmes. The average blood lead in Trail children aged 6–72 months fell 14% from the autumn of 1991 to autumn of 1992, whereas for the previous 16 years, the average annual decline had been about 4%. In subsequent years, blood lead levels have appeared to plateau. Throughout the 5-year history of the Task Force, its members have demonstrated a strong sense of common purpose and have worked co-operatively to reach consensus on most issues.