Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil: results of the IAEA–UNESCO SGD project

Results of groundwater and seawater analyses for radioactive (³H, ²²²Rn, ²²³Ra, ²²⁴Ra, ²²⁶Ra, and ²²⁸Ra) and stable (D and ¹⁸O) isotopes are presented together with in situ spatial mapping and time series ²²²Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d⁻¹ to 360 cm d⁻¹; the unit represents cm³/cm²/day), as well as during a few hours (from 0 cm d⁻¹ to 110 cm d⁻¹), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous ²²²Rn measurements is 17 ± 10 cm d⁻¹. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 10³ m³ d⁻¹ per km of the coast. The isotopic composition (δD and δ¹⁸O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of ²²²Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.     

A first trimester trisomy 13/trisomy 18 risk algorithm combining fetal nuchal translucency thickness,maternal serum free β-hCG and PAPP-A

This study examines 45 cases of trisomy 13 and 59 cases of trisomy 18 and reports an algorithm to identify pregnancies with a fetus affected by trisomy 13 or 18 by a combination of maternal age fetal nuchal translucency (NT) thickness, and maternal serum free β-hCG and PAPP-A at 11–14 weeks of gestation. In this mixed trisomy group the median MoM NT was increased at 2.819, whilst the median MoMs for free β-hCG and PAPP-A were reduced at 0.375 and 0.201 respectively. We predict that with the use of the combined trisomy 13 and 18 algorithm and a risk cut-off of 1 in 150 will for a 0.3% false positive rate allow 95% of these chromosomal defects to be identified at 11–14 weeks. Such algorithms will enhance existing first trimester screening algorithms for trisomy 21. Copyright © 2002 John Wiley & Sons, Ltd.     

漓江流域δD和δ18O对蒸发的指示作用

以漓江流域为例查明不同水体之间氢氧稳定同位素组成特征,并探讨氢氧稳定同位素对漓江流域的蒸发过程指示作用.结果表明：流域内不同水体之间,氢氧稳定同位素表现出不同的组成特征,地表水和地下水,在丰水期δD值和δ¹⁸O值要比枯水期更容易富集,地下水的δD值和δ¹⁸O值分布范围较地表水小;随着水温的升高,δ¹⁸O的变化趋势比d-excess明显.从漓江上游到下游高程逐渐下降,河水线的斜率和截距也在逐渐减小,其中漓江下游河水线的斜率和截距要低于当地大气降水线,表明下游受到蒸发作用较强烈;地下河水线、地表河水线在一定程度上偏离当地大气降水线,但偏离程度较小,表明三者之间有很好的水力联系.受温度和湿度的共同影响,漓江干流丰水期河水的蒸发量占最初水体总量的0.7%~9.1%,枯水期河水的蒸发量占最初水体总量的2.6%~9.7%,丰水期的蒸发比例低于枯水期,从上游到下游蒸发比例在逐渐上升.研究区蒸发量估算值为959.40mm,与多年实测值少43.11mm,相对误差4.70%.氢氧稳定同位素对研究区降水、地表水、地下水之间的转换规律具有重要的实际意义,在今后的漓江流域水文研究中有着更加广阔的空间.     

黄河三角洲典型地区耕地土壤养分空间预测

掌握土壤养分的分布特点是实现养分优化管理的重要基础。论文选择黄河三角洲典型地区山东省垦利县为研究区,通过田间采样与实验室化验分析获取了1 278个样本（0~20 cm）的土壤碱解氮、有效磷、速效钾数据。在经典统计分析的基础上,用地统计学方法分析了土壤养分的空间变异特征,并拟合了养分的变异函数模型。利用普通克里格法（OK）、反距离权重法（IDW）、泛克里格法（UK）、径向基函数法（RBF）和局部多项式法（LP）5种方法进行空间插值,并采用独立数据集验证对插值结果进行精度评价,进而分析了各养分空间分布规律。为深入探索各方法的适用性规律,基于AN数据设计了离散、随机、聚集3种空间分布模式的数据,利用各模型的自动优化进行试验,对比分析了不同插值方法在土壤养分空间预测中的自适应性。结果表明：1）研究区碱解氮、有效磷、速效钾均为中等强度的空间变异和中等程度的空间自相关,其变异函数模型分别为球状模型、指数模型和球状模型,决定系数依次为0.951、0.892和0.787;2）在空间分布上,土壤碱解氮、有效磷、速效钾含量与地形和土地利用类型等有关,西南部地势较高,以水浇地和旱田为主,东北部沿黄农田受黄河淡水影响,耕地质量较好,而中部地区地势低平,以水田为主,养分含量偏低;3）相对于块金系数/基台值,Moran’s I是更为稳健有效的衡量土壤养分空间自相关性的方法;4）论文认为,空间分布模式、样本量、空间自相关性和空间聚集程度（最近邻比）均影响插值精度。在离散模式下,各方法自适应性均较差;在随机模式下,IDW与RBF自适应性优于OK和LP;在聚集模式下,各方法自适应性与样本量和空间自相关性有关,直至样本足够多时,4种插值方法精度接近。论文探明了研究区主要土壤养分的最佳插值预测方法,分析了土壤养分的变异特征和空间分布规律,为黄河三角洲典型地区耕地土壤养分利用管理和农业可持续发展提供了理论依据。     

消泡剂硅油I在工业废水氨氮测定中的应用

对色泽较深，含杂质量较高的废水加硅油I以抑制测定中蒸馏产生的泡沫．结果表明，在250ml水样中加硅油IO．10～1．25ml，即可收到理想效果．硅油I性质稳定，不随水蒸汽蒸出，对测定无干扰．     

上海市在用车推行I/M制度中检测方法的研究

对在用车实施I/M制度，采用底盘测功机模拟道路工况检测汽车排放污染物，按美国国家环保局（EPA）推荐的方法有3种：瞬态短工总法（IM240）、稳态加速模拟工况法（ASM）和瞬态短工部简易质量分析检测法（VMAS）。根据上海市的试验结果，对上述3种方法的检测精度、设备投资以及运行维护诸方面进行分析比较，阐明上海市采用VMAS方法的依据和应注意的问题，并对应采用的模拟道路工况提出了看法。     

The significance of prenatal diagnosis of choroid plexus cysts

A case is described of the prenatal diagnosis of choroid plexus cysts at 17 weeks' gestation which persisted beyond 36 weeks but could not be detected after delivery. At birth the child was found to have trisomy 18.     

金堆城超大型钼矿床水-岩δD-δ~(18)O同位素交换体系理论模型及成矿流体来源

基于水-岩δD-δ18O同位素交换体系理论模型的建立和计算，对金堆城超大型斑岩钼矿四个不同成矿期中成矿流体的演化和来源进行了研究，发现在成矿前期和早期，成矿流体为岩浆水与围岩在较低水／岩比值（0．1W／R＞0．001）和中、高温（t=250～500℃）条件下反应后的残余流体，而主成矿期和成矿晚期的成矿流作为大气降水在相对较高水／岩比值（0．5＞W／R0．1）和中、低温（t＝150～310℃）条件下与围岩反应后的残留流体。大气降水在金堆城钼矿成矿过程中起了重要作用。在主成矿期水／岩比值达到最高。     

两种奥氏体不锈钢酸性盐雾腐蚀行为研究

目的研究0Cr18Ni9(钝化)不锈钢与0Cr18Ni10Ti(钝化)不锈钢在酸性盐雾条件下的腐蚀行为,为发动机零件选材及防护措施的改进提供依据。方法按GJB150.11A—2009《军用装备环境试验方法盐雾试验》进行,调节溶液p H到3.5±0.5,以24 h喷雾润湿+24 h干燥为一个循环,分别开展2(96 h)、4(192 h)、5(240 h)个循环的酸性盐雾试验。采用目视、称量、X射线衍射(XRD)、扫描电子显微镜(SEM)及能谱仪(EDS)对盐雾腐蚀后试样进行观察及分析。结果 0Cr18Ni9(钝化)与0Cr18Ni10Ti(钝化)两种奥氏体不锈钢均发生了轻微的腐蚀,主要为局部腐蚀及均匀腐蚀。结论两种金属在酸性盐雾条件下耐蚀性良好,且可满足目前海军型发动机对材料耐酸性盐雾腐蚀的要求,0Cr18Ni9(钝化)略优于0Cr18Ni10Ti(钝化)。