The fragmentation patterns of maternal plasma cell-free DNA and its applications in non-invasive prenatal testing

The discovery of cell-free DNA (cfDNA) in maternal plasma has opened up new promises for the development of non-invasive prenatal testing (NIPT). Application of cfDNA in NIPT of fetus diseases and abnormalities is restricted by the low amount of fetal DNA molecules in maternal plasma. Fetus-derived cfDNA in maternal plasma are shorter than maternal DNA, thus leveraging the maternal and fetus-derived cfDNA molecules size difference has become a novel and more accurate method for NIPT. However, multiple biological properties such as size distribution of plasma DNA, proportion of fetal-derived DNA and methylation levels in maternal plasma across different gestational ages still remain largely unknown. Further insights into the size distribution and fragmentation pattern of circulating plasma cfDNA will shed light on the origin and fragmentation mechanisms of cfDNA during physiological and pathological processes in prenatal diseases and enhance our ability to take the advantage of plasma cfDNA as a molecular diagnostic tool. In the review, we start by summarizing the research techniques for the determination of the fragmentation profiles of cfDNA in maternal plasma. We then summarize the main progress and findings in size profiles of maternal plasma cfDNA and cffDNA. Finally, we discuss the potential diagnostic applications of plasma cfDNA size profiling.     

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF-PCR), as well as non-invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF-PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.     

基于余震序列分布信息的地震极灾区快速判断方法研究

利用震级加权标准差椭圆法研究了基于震后短期内(24 h)余震序列判定地震极灾区的方法,研究结果表明:1利用该方法判断宏观震中是一种比较可行的方法,不同震源破裂方式的震例利用该方法判断宏观震中的精度不同,倾滑-近倾滑型破裂方式的震例利用余震序列判定宏观震中的精度最高;2整体上看,利用该方法判断极灾区长轴方向的准确性低于利用距震中最近活动断裂判断的准确性,但对于倾滑-近倾滑型破裂方式的震例,利用该方法的准确性高于利用断层数据判定的准确性。     

Controlling cyanobacterial blooms by managing nutrient ratio and limitation in a large hypereutrophic lake: Lake Taihu, China

Excessive nitrogen (N) and phosphorus (P) loading of aquatic ecosystems is a leading cause of eutrophication and harmful algal blooms worldwide, and reducing nutrient levels in water has been a primary management objective. To provide a rational protection strategy and predict future trends of eutrophication in eutrophic lakes, we need to understand the relationships between nutrient ratios and nutrient limitations. We conducted a set of outdoor bioassays at the shore of Lake Taihu. It showed that N only additions induced phytoplankton growth but adding only P did not. Combined N plus P additions promoted higher phytoplankton biomass than N only additions, which suggested that both N and P were deficient for maximum phytoplankton growth in this lake (TN:TP = 18.9). When nutrients are present at less than 7.75-13.95 mg/L TN and 0.41-0.74 mg/L TP, the deficiency of either N or P or both limits the growth of phytoplankton. N limitation then takes place when the TN:TP ratio is less than 21.5-24.7 (TDN:TDP was 34.2-44.3), and P limitation occurs above this. Therefore, according to this ratio, controlling N when N limitation exists and controlling P when P deficiency is present will prevent algal blooms effectively in the short term. But for the long term, a persistent dual nutrient (N and P) management strategy is necessary.     

Mg2+ improves biomass production from soybean wastewater using purple non-sulfur bacteria

Soybean wastewater was used to generate biomass resource by use of purple non-sulfur bacteria (PNSB). This study investigated the enhancement of PNSB cell accumulation in wastewater by Mg²⁺ under the light-anaerobic condition. Results showed that with the optimal Mg²⁺ dosage of 10 mg/L, biomass production was improved by 70% to 3630 mg/L, and biomass yield also was improved by 60%. Chemical Oxygen Demand (COD) removal reached above 86% and hydraulic retention time was shortened from 96 to 72 hr. The mechanism analysis indicated that Mg²⁺ could promote the content of bacteriochlorophyll in photosynthesis because Mg²⁺ is the bacteriochlorophyll active center, and thus improved adenosine triphosphate (ATP) production. An increase of ATP production enhanced the conversion of organic matter in wastewater into PNSB cell materials (biomass yield) and COD removal, leading to more biomass production. With 10 mg/L Mg²⁺, bacteriochlorophyll content and ATP production were improved by 60% and 33% respectively.     

Mercury adsorption characteristics of HBr-modified fly ash in an entrained-flow reactor

In this study, the mercury adsorption characteristics of HBr-modified fly ash in an entrained-flow reactor were investigated through thermal decomposition methods. The results show that the mercury adsorption performance of the HBr-modified fly ash was enhanced significantly. The mercury species adsorbed by unmodified fly ash were HgCl₂, HgS and HgO. The mercury adsorbed by HBr-modified fly ash, in the entrained-flow reactor, existed in two forms, HgBr₂ and HgO, and the HBr was the dominant factor promoting oxidation of elemental mercury in the entrained-flow reactor. In the current study, the concentration of HgBr₂ and HgO in ash from the fine ash vessel was 4.6 times greater than for ash from the coarse ash vessel. The fine ash had better mercury adsorption performance than coarse ash, which is most likely due to the higher specific surface area and longer residence time.     

低浓度苯系物在新疆干旱区土壤中的吸附行为研究

采集新疆干旱区石化废水库附近区域土壤,以苯、甲苯、乙苯、二甲苯(间、对二甲苯)等典型苯系物为研究对象,系统研究低浓度苯系物在干旱区土壤上的吸附行为,分析土壤有机质含量,溶液p H、溶液含盐量、温度对苯系物吸附的影响。结果显示土壤对低浓度苯系物的吸附16 h达到平衡;吸附等温线经拟合后符合Henry直线型吸附模型;土壤对苯系物的吸附量随着土壤有机质含量的增加而增加,土壤有机质含量与吸附量呈显著正相关(P0.01,R2≥0.919);溶液p H值对吸附过程无明显作用;随着溶液含盐量增大,土壤对苯系物的吸附量表现为先减小,再稳定;温度升高会抑制土壤对苯系物的吸附作用。     

河流线型对河流自净能力的影响

为研究河流线型对河流自净能力的影响,选取5条具有不同河流线型的河涌进行研究,以弯曲度和分形维数表征河流线型,以TP、NH 3-N、NO 2-N、NO 3-N、COD Cr、TOC、DOC、叶绿素(Chlorophyll)和蓝绿藻藻蓝蛋白(BGA-PC)等9项水质指标沿程削减率表征河流自净能力,并分析各研究河段的悬浮微生物生物量和生物活性,探讨河流线型影响河流自净能力的作用机制。结果表明:多项水质指标沿程削减率随河流线型蜿蜒程度的增加而提升。在直立式浆砌石挡墙河段,河流线型通过提高悬浮微生物生物活性,进而增强河流自净能力,使TP、NH 3-N、NO 3-N、DOC、Chlorophyll和BGA-PC的沿程削减率显著提升;而在格宾石笼挡墙河段,河流线型通过增加悬浮生物生物量和提高生物活性,进而增强河流自净能力,使NO 2-N、COD Cr、TOC和DOC的沿程削减率显著提高。