Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review

A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11 pi 2 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.     

Duplication of chromosome 11 centromere in fetal and maternal karyotypes: A new variant?

Fetal chromosome analysis in a 39-year-old mother revealed a chromosome 11 aberration interj ireted as a duplication of the centromere. This was also found in the mother's karyotype, raising the possibility that the abnormality was a new variant of no clinical consequence.     

钛合金ZrN耐磨抗冲蚀防护涂层

采用真空多弧镀设备在TC11钛舍金表面沉积超硬耐磨ZrN防护涂层,通过增压气流固体颗粒冲蚀实验评价ZrN涂层的耐磨抗冲蚀性能,划痕仪测试涂层与基体的结合力,SEM、X射线分析涂层组成及观察涂层冲蚀前后表面形貌,盐雾及电化学实验测试涂层耐腐蚀性能。结果表明,ZrN涂层成分主要为（111）择优取向的ZrN相;ZrN涂层不影响钛合金的耐腐蚀性能及疲劳性能;ZrN涂层与基体结合牢固．涂层大大提高了基体的耐磨抗冲蚀性能。     

Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: Prenatal diagnosis in chorionic villi and amniotic fluid

The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo-types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second-trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.     

Dynamic relationship between precious metals

We use a relatively new approach to endogenously detect the volatility shifts in the returns of four major precious metals (gold, silver, platinum and palladium) from 1999 to 2013. We reveal that the turbulent year of 2008 has no significant effect on volatility levels of gold and silver however causes an upward shift in the volatility levels of palladium and platinum. Using the consistent dynamic conditional correlations, we show that precious metals get strongly correlated with each other in the last decade which reduces the diversification benefits across them and indicates a convergence to a single asset class. We endogenously detect the shifts in these dynamic correlation levels and reveal uni-directional volatility shift contagions among precious metals. The results show that gold has a uni-directional volatility shift contagion effect on all other precious metals and silver has a similar effect on platinum and palladium. However, the latter two do not matter in terms of volatility shift contagion. Thus, investors that hedge with precious metals should, in particular, monitor the volatility levels of gold and silver.     

广州市主要污染物总量减排环境绩效评价

“十一五”期间,广州市主要污染物COD和SO2排放总量持续下降,经初步核算,2010年COD和S02排放量分别比2005年下降2．7万吨和6．5万吨,减排比例分别达到19．7％和43％,总量减排工作顺利完成。减排对环境改善明显,珠江广州河段主要污染指标浓度值均有所下降,COD年均浓度从2005的20．7毫克／升下降至2010年的13．6毫克／升,下降幅度达34．3％,整体水环境质量得到根本好转;空气环境质量优良率逐年上升,大气主要污染指标年均浓度值基本呈现逐年下降的态势,SO2从2005年年平均浓度为0．053毫克／立方米下降至2010年的0．033毫克／立方米,下降幅度达37．7％,空气质量持续得到好转。     

HHMHC对Cu2+、Ni2+的萃取性能

以对羟基苯甲酸为原料,通过化学修饰合成得到上沿羧基化的杯[6]芳烃羟肟衍生物,即5,11,17,23,29,35-六羧基-37,38,39,40,41,42-六羟肟酸甲氧基杯[6]芳烃(HHMHC),采用IR对其结构性能进行表征,并探讨了溶液初始pH值、初始重金属离子(Cu2+、Ni2+)浓度、萃取时间、温度等因素对HHMHC萃取重金属离子的影响.结果表明,在温度为30℃时HHMHC萃取Ni2+和Cu2+的最佳pH值分别为5.0、6.0,萃取平衡时间均为30min.用准二级动力学模型(R2>0.99)和Freundlich等温模型(R2>0.999)均可较好的拟合其萃取过程,通过计算萃取过程的热力学参数,得到Gibbs自由能(ΔG0)和焓变(ΔH0)均小于0,表明萃取反应是一个自发的放热反应.通过红外光谱图分析和考察溶液pH值对萃取分配比的影响,探讨HHMHC萃取Cu2+、Ni2+的机理,结果表明此萃取过程除了存在阳离子交换机理外,还存在与冠醚萃取相同的离子配位萃取,参与配位作用的主要是羟肟基团(–CONHOH).     

基于MIKE11与EFDC模型的突发性水污染事故预测模拟研究

通过对沈阳市浑河流域水环境的调查,基于Mike11与EFDC建立浑河流域沈阳段水动力-水质耦合模型,并对突发污染事故进行模拟研究。结果表明,Mike11与EFDC模型应用于浑河流域的预警模型在率定期和验证期的模拟结果均良好,所确定的参数能准确反映河道特征。因此,此预警模型可应用于浑河流域突发性水环境风险应急预测,并且能够对浑河污染物迁移转化过程进行准确模拟预测,模拟结果能够为区域水资源管理和保护提供技术支持,达到流域应急预警功能需求。     

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli,pleural effusion and ascites

Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated. Copyright © 2005 John Wiley & Sons, Ltd.     

A semipermeable membrane equilibrator for halomethanes in seawater

An equilibrator for sampling the partial pressures of halomethanes in seawater was designed and built, incorporating semipermeable membrane tubing to carry the gas phase. The equilibrator was tested for its ability to equilibrate chloromethane, bromomethane, iodomethane, and CFC-11. The residence time required for these halomethanes to equilibrate in the tubing (30 to 60 s) was determined experimentally. In a laboratory test, concentrations calculated from equilibrator measurements and based on published solubility values were found to differ by 6% to 16% from concentrations measured with a purge-and-trap apparatus, but uncertainties in the solubility values are likely to contribute significantly to the differences. In a comparison at sea, no significant difference was found between the semipermeable membrane equilibrator and another, more conventional equilibrator, except a 1.3% difference for CFC-11. This study demonstrates the feasibility of using semipermeable membranes in this and related applications.