Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.     

Flow cytometric method to measure urea-resistant alkaline phosphatase from blood neutrophils for use in the prenatal screening of Down's syndrome

The histochemical measurement of urea-resistant alkaline phosphatase from maternal blood neutrophils is known to have a high detection rate for the prenatal detection of Down's syndrome pregnancies. However, because the histochemical method is laborious and subjective to use, it has not gained widespread acceptance in prenatal screening programmes. We present a simple and objective method for the measurement of urea-resistant alkaline phosphatase by flow cytometry. The method should allow the design of larger studies aimed at evaluating the role of neutrophil urea-resistant alkaline phosphatase in the prenatal screening for Down's syndrome.     

Expanding multiple marker screening for Down's syndrome to include Edward'S syndrome

Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE₃), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10–12 (67–80 per cent) cases with a false-positive rate of 0.3–0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE₃ and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.     

Using environmental heterogeneity to plan for sea‐level rise

Environmental heterogeneity is increasingly being used to select conservation areas that will provide for future biodiversity under a variety of climate scenarios. This approach, termed conserving nature's stage (CNS), assumes environmental features respond to climate change more slowly than biological communities, but will CNS be effective if the stage were to change as rapidly as the climate? We tested the effectiveness of using CNS to select sites in salt marshes for conservation in coastal Georgia (U.S.A.), where environmental features will change rapidly as sea level rises. We calculated species diversity based on distributions of 7 bird species with a variety of niches in Georgia salt marshes. Environmental heterogeneity was assessed across six landscape gradients (e.g., elevation, salinity, and patch area). We used 2 approaches to select sites with high environmental heterogeneity: site complementarity (environmental diversity [ED]) and local environmental heterogeneity (environmental richness [ER]). Sites selected based on ER predicted present‐day species diversity better than randomly selected sites (up to an 8.1% improvement), were resilient to areal loss from SLR (1.0% average areal loss by 2050 compared with 0.9% loss of randomly selected sites), and provided habitat to a threatened species (0.63 average occupancy compared with 0.6 average occupancy of randomly selected sites). Sites selected based on ED predicted species diversity no better or worse than random and were not resilient to SLR (2.9% average areal loss by 2050). Despite the discrepancy between the 2 approaches, CNS is a viable strategy for conservation site selection in salt marshes because the ER approach was successful. It has potential for application in other coastal areas where SLR will affect environmental features, but its performance may depend on the magnitude of geological changes caused by SLR. Our results indicate that conservation planners that had heretofore excluded low‐lying coasts from CNS planning could include coastal ecosystems in regional conservation strategies.     

Water saving effect on integrated water resource management

This study proposes an improved integrated water resource management (IWRM), in which water conservation was analyzed for the entire water use process. A multi-objective optimization method was applied to optimize the IWRM, which investigated the reduction of freshwater consumption and the total water supply cost. Customer's preference for saving water and an end use analysis (EUA) was applied in the water conservation analysis. Taking Tianjin as the study area, a reduction in customer's economic pressure (EP) was utilized to evaluate the degree of the customer's preference for saving water. The results revealed that agriculture had a greater preference for saving water than other sectors, where as the public had the weakest motivation for saving water. Improving the transportation method could contribute 62.1% of the total water savings in the agriculture sector. The optimization of the IWRM demonstrated that the local freshwater savings would be 21.5%, and the total cost for water supplies would decrease by 13%. However, a government subsidy of 87.5 million Yuan would be needed. Additionally, by analyzing the change in the amount of water savings affected by water price, the appropriate water price increase range was suggested to be 1.5–1.7 times the original price.     

西安市重污染与清洁天PM2.5组分及其活性氧物质对比

针对重霾污染,在西安市冬季重污染日(2015-11-30~2015-12-09)和清洁日(2016-01-13~2016-01-22)各进行了为期10d的PM_(2.5)采集,测量其中的有机碳、元素碳,及NH_4~+、NO_3~-、SO_4~(2-)等无机水溶性离子,探讨两种污染条件下的组分特征及其成因.结果表明:观测期,重霾日和清洁日PM_(2.5)质量浓度分别为(170±47.5)μg·m~(-3)和(48.6±17.9)μg·m~(-3),且重霾日伴随低能见度、高湿静风等多种不利气象条件;重霾日二次无机离子(NH_4~+、NO_3~-、SO_4~(2-))组分占PM_(2.5)质量浓度的49.8%±13.1%,而清洁日为19.4%±5.95%,并且重霾日硫氧化速率(sulfur oxidation ratio,SOR)和氮氧化速率(nitrogen oxidation ratio,NOR)分别为0.282±0.157和0.269±0.124,远高于清洁日(SOR和NOR分别为0.189±0.057和0.077±0.046),重霾日二次有机组分浓度[(6.22±3.87)μg·m~(-3)]是清洁日[(1.44±1.63)μg·m~(-3)]的5倍,表明二次污染及不利气象条件是造成重霾期间相关组分浓度升高的重要原因.最后,通过二氯荧光黄双乙酸盐(2',7'-DCFH)化学荧光分析法测定了其中活性氧物质(reactive oxygen species,ROS)的浓度,探讨其对于二次无机组分形成的影响,结果表明观测期ROS平均浓度(以H_2O_2计)分别为(4.99±1.54)nmol·m~(-3)(重霾期),(0.492±0.356)nmol·m~(-3)(清洁期),二次反应及积累效应可能是西安重霾条件下ROS浓度升高的主要原因.NO_3~-、SO_4~(2-)与ROS均呈现正相关(P0.05),表明ROS可能通过二次氧化过程参与到二次无机组分形成过程中.     

人为干扰对小兴安岭森林湿地土壤碳组分和酶活性的影响

以小兴安岭落叶林沼泽湿地为研究对象,对比研究皆伐地、火烧地和落叶松湿地土壤碳组分和酶活性.结果表明:(1)3种湿地类型土壤SOC含量表现为对照地显著高于皆伐地和火烧地(p0.05),在0~10 cm土层中皆伐地与对照地相比降低了58.38%,火烧地与对照地相比降低了61.96%.皆伐地与火烧地在不同土层的土壤中SOC含量差异不显著(p0.05);DOC含量对照地显著高于皆伐地和火烧地(p0.05).在0~10cm土层中火烧地DOC含量是皆伐地的1.99倍,两者差异不显著(p0.05);不同干扰方式对土壤MBC含量影响的差异主要表现在0~10 cm的土层土壤,对照地分别比皆伐地和火烧地高23.13%和95.79%(p0.05).在不同的土层中皆伐地MBC含量均大于火烧地,与SOC含量的变化趋势一致.(2)与对照地相比,皆伐地与火烧地0~10 cm土层的土壤蔗糖酶活性分别降低了45.59%和36.76%,脲酶活性显著降低了18.22%和55.69%(p0.05),蛋白酶活性降低了19.65%和17.34%,淀粉酶活性降低了6.29%和10.69%.土壤碳组分和酶活性在垂直方向上均表现为随着土层深度增加而减小.皆伐和火烧造成森林湿地土壤碳组分和酶活性降低.     

西安市建筑垃圾渣土资源再利用研究

建筑垃圾渣土作为"建筑副产品",已造成严重的城市环境问题。通过对西安市建筑垃圾渣土的现场调查及工程再利用,借鉴发达国家及国内省市建筑垃圾渣土的成功管理经验和资源再利用的成功范例,提出了西安建筑垃圾资源再利用的对策建议,对"十三五"期间减少已有建筑垃圾的存量并遏制增量和建设西安森林城市具有参考意义。     

西安市PM2.5燃煤源谱特征研究

针对西安本地源谱缺乏的现状,总结统计了西安目前灰霾特征和主要成因,对西安市燃煤源进行了测定.研究发现,在煤烟尘PM2.5中SO2-4的含量最高(25%),其次为OC(12%)、NH+4(7%)、Cl-(5%).对固定源燃煤与民用散烧煤,不同脱硫方式、脱硝方式和锅炉类型的固定源成分谱分析得出:1.SO2-4及Al、Si、Ca在固定源煤烟尘PM2.5中含量大于民用燃煤,OC与之相反;2.炉内喷钙法PM2.5中SO2-4明显高于其它脱硫法含量;双碱法PM2.5中Na的含量显著高于其它脱硫工艺流程的含量;氧化镁法PM2.5 中Mg含量为各类脱硫工艺中最高;石灰石膏法颗粒物中Mg、Al、Si、Ca等元素含量均高于大多数工艺;3.不同的脱硝工艺中NO-3离子在各类成分谱中的含量极低;4.链条炉与层燃炉PM2.5中OC、EC含量高于循环流化床炉、煤粉炉.