Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update

A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70·O per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.     

Informational uncertainties of risk assessment about accidents of chemicals

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Serum PAPP-A and free β-hCG are first-trimester screening markers for down syndrome

Serum measurements of pregnancy-associated plasma protein A (PAPP-A) and the free β-human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP-A measurements (0·31 MOM, 95 per cent confidence interval (CI) 0·22–0·65 vs. normal 1·06, 95 per cent CI 0·89–1·20) were lower and free β-hCG subunit measurements (1·13 MOM, 95 per cent CI 0·93–2·63 vs. normal 0·91, 95 per cent CI 0·79–1·03) were higher at statistically significant levels. Receiver operator characteristic (ROC) curves showed that the highest sensitivity for detection, 71·2 per cent (95 per cent CI 54·7–87·6 per cent), was for depressed PAPP-A levels; the combination of low serum PAPP-A levels, maternal age, and elevated free β-hCG levels yielded a detection rate of 78·9 per cent (95 per cent CI 64·9–92·8 per cent) of the affected pregnancies at 8–12 weeks' gestation.     

A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases

One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow-up studies in liveborns should include a culture from urine sediment.     

模拟酸雨对太湖地区土壤-植物系统中铜的化学行为的影响

以太湖地区两种典型的水稻土（乌泥土和白土）为供试土壤，在盆栽条件下种植多年生黑麦草，并配制不同pH值的模拟酸雨浇灌。通过多次刈割鲜草，研究模拟酸雨对土壤－植物系统中铜的化学行为的影响。结果表明：对植物体内铜含量的影响是模拟酸雨和“稀释效应”两种影响综合作用的结果。试验初期，表现为处理黑麦草体内铜含量低于对照；随收割茬次的增加，表现出随处理pH的降低，黑麦草体内铜含量的增加，且对缓冲能力弱的白土影响强度大于缓冲能力较强的乌泥土；对土壤pH有明显影响，随模拟酸雨作用时间增长，土壤pH下降，其降幅随处理pH的降低而增大；模拟酸雨主要影响交换态铜，表现为随处理pH的降低交换态铜的分配系数增高，在处理pH＝3．0时影响到碳酸盐结合态铜，只有强酸化条件下（处理pH＝2．0）才影响到铁锰氧化物结合态铜，对有机物结合态及残渣态铜几乎无影响。     

玉米/空心菜间作降低土壤及蔬菜中硝酸盐含量的研究

菜地中过量的施用氮肥使土壤剖面中累积了大量的硝酸盐，会增加地下水的硝酸盐污染的风险．选择了深根系的玉米和浅根系的空心菜间作来验证深根系作物和浅根系作物问作将降低土壤剖面硝酸盐累积的假说．结果表明，间作有降低蔬菜地上部硝酸盐浓度和土壤剖面硝酸盐残留量的趋势；与单作种植相比，间作玉米的产量有显著增加，间作空心菜的产量没有显著降低；与单作玉米和空心菜相比，问作五米的根系表层分布较多，间作空心菜的根长密度有所降低．这为降低土壤剖面及蔬菜中的硝酸盐累积提供了新的途径。     

高硫煤基高比表面积活性炭吸附处理焦化废水的研究

采用高硫煤基高比表面积活性炭对焦化废水进行吸附处理,研究了吸附温度、活性炭投加量、吸附时间等工艺条件对处理效果的影响,并对活性碳的再生进行了初步探讨.结果表明,在32℃时,活性炭投加量1g/50 mL,吸附3h后,焦化废水中氨氮去除率为23.4%,苯酚去除率为85.8%,COD去除率可达90%.该活性炭能够进行有限的再生利用.     

Effects of Oxalis pes-caprae L. invasion in olive groves

The present work aimed at studying the effect of Oxalis pes-caprae invasion in the herbaceous understory of olive groves in the island of Lesvos, Greece. The number of species, their biomass and dead plant material production was followed throughout the vegetative period in invaded and non-invaded plots. Species richness in the area invaded by O. pes-caprae gradually declined and was significantly smaller in comparison with the natural vegetation. Although biomass was equal in the invaded and non-invaded areas 1 month after germination, annual net primary production (NPP) was three times smaller in the invaded than the non-invaded area. Moreover, aboveground dead plant material of O. pes-caprae decomposed faster than a mixture of litter species of the natural vegetation. Lower biomass production in combination with increased decomposition rates of O. pes-caprae is expected to lead to reduced soil C sequestration in invaded areas. It was concluded that although O. pes-caprae does not add a new life form or functional type to the invaded herbaceous system it has considerable impacts on the diversity and ecosystem functions in olive groves.     

中德财政合作辽宁朝阳生态造林项目管理及相应对策

林业管理一直是我国林业发展的弱项,造成"两率"低的主要原因除技术问题或资金问题外,机制问题和管理问题也是重要的方面,本文阐述了中德财政合作辽宁朝阳生态造林项目管理存在的主要问题,提出了解决问题的相应对策.     

Evaluation of prenatal diagnosis of congenital heart disease

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131 760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at ⩾ 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.