First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study

The accuracy of biochemical and molecular prenatal diagnoses using chorionic villi as the fetal source was assessed by seven centres participating in the NICHD collaborative study on the safety and accuracy of chorionic villus sampling (CVS) and amniocentesis. Of 601 pregnancies studied, biochemical methods were used to determine the diagnosis in 283 fetuses at risk for 35 different metabolic disorders. Fifteen different lysosomal storage diseases accounted for 81 per cent of the biochemical prenatal diagnoses performed, with 57 per cent of these pregnancies at risk for Tay-Sachs disease. No errors were made in the biochemical diagnoses that predicted affected or unaffected fetuses. However, the diagnoses of certain disorders (e.g., mucopolysacchariodosis type IH, metachromatic leukodystrophy, and Krabbe disease) occasionally required confirmatory studies in cultured amniocytes because the enzyme results were inconclusive in direct and/or cultured villi or due to the presence of a pseudodeficiency allele. Of these, only the diagnosis of a fetus at risk for Krabbe disease remained inconclusive after special studies to discriminate between mutant and pseudodeficiency alleles. Recombinant DNA techniques were used to predict the diagnosis of 318 fetuses at risk for 16 different disorders in which the defective disease gene could be detected either directly or by linkage analysis to a nearby polymorphic marker. Of these, 32 per cent were for haemoglobinopathies, 25 per cent for cystic fibrosis, 24 per cent for Duchenne or Becker muscular dystrophy, and 7 per cent for haemophilias. Pregnancies at risk for known disorders with specific molecular lesions (e.g., sickle cell disease) were accurately diagnosed in direct and/or cultured villi. Diagnoses requiring analyses with closely linked polymorphic markers were occasionally uninformative or inconclusive. Maternal contamination was not reported in any biochemical or molecular-based diagnosis. These studies document the high accuracy and rapidity of both biochemical and mutation-specific prenatal diagnoses with direct and cultured chorionic villi.     

喹啉及其衍生物微生物降解研究进展

喹啉类氮杂环化合物在水、土壤环境中普遍存在，受其污染的水、土壤环境生物修复是目前环境治理领域的重要课题。介绍了近年来喹啉类氮杂环化合物微生物降解的国内外研究进展，主要包括可利用喹啉类氮杂环化合物作为碳源、氮源和能源的微生物资源、微生物降解的有氧代谢和无氧代谢两大途径，以及喹啉类化合物的降解动力学。在此基础上，提出了需要进一步研究的方向。     

萝卜对邻苯二甲酸酯(PAEs)吸收累积特征及途径的初步研究

利用玻璃室处理和覆土处理(人工污染土壤上覆盖原土壤)的方法控制萝卜的PAEs来源进行盆栽试验,试验处理分别为:(1)原土壤,暴露于大气中(空白1);(2)原土壤,置于玻璃室中(空白2);(3)人工污染土壤,暴露于大气中;(4)人工污染土壤,置于玻璃室中;(5)人工污染土壤上覆盖2 cm厚原土壤,暴露于大气中;(6)人工污染土壤上覆盖2 cm厚原土壤,置于玻璃室中.盆栽后应用GC/MS对土壤和植株样品中的PAEs进行分析,初步研究了萝卜对PAEs的吸收累积特征及途径.研究结果表明,萝卜茎叶和直根中邻苯二甲酸二乙酯(DEP)的含量均低于检测限,邻苯二甲酸正二丁酯(DBP)和邻苯二甲酸二(2-乙基己基)酯(DEHP)的含量与土壤污染浓度成正相关关系,DBP的含量高于DE-HP,两者主要分布在茎叶中.未覆土处理与覆土处理相比,前者盆栽的萝卜茎叶中DBP和DEHP的含量均高于后者,但在2个处理之间差异不显著,表明萝卜茎叶可以吸收污染土壤中挥发出来的DBP和DEHP,但直根吸收运移是茎叶中DBP和DEHP的主要来源途径.玻璃室处理导致萝卜茎叶中DBP含量的提高,在大棚蔬菜生产中值得注意.     

应用EGSB反应器处理五氯苯酚废水

对EGSB反应器处理五氯苯酚(PCP)废水的运行条件以及PCP的降解途径作了研究.结果表明,在进水PCP浓度为95mg/L,COD浓度为5000mg/L时,出水回流比为90,水力停留时间(HRT)为16h的条件下,出水PCP和COD浓度达到排放要求(PCP<0.1mg/L,COD<100mg/L),反应器PCP容积负荷142.5g/(m³·d),有机容积负荷为COD7.5kg/(m³·d).PCP在EGSB反应器中主要脱氯产物是2,3,4,5-TeCP,2,3,5-TCP以及2,3,4,6-TeCP,表明PCP主要通过邻位脱氯产生2,3,4,5-TeCP,再脱氯产生2,3,5-TCP,部分PCP首先间位脱氯产生2,3,4,6-TeCP.     

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.     

汶川地震灾区不同气候区土壤微生物群落碳源代谢多样性

为探讨汶川地震灾区不同气候区土壤微生物群落功能代谢的变化,采用Biolog-ECO生态板技术,研究了亚热带湿润季风气候和半干旱干热河谷气候未受损区、受损治理区、受损未治理区土壤微生物碳源代谢的多样性变化特征.结果表明,平均颜色变化率(AWCD)在未受损区和受损治理区表现为亚热带湿润季风气候区半干旱干热河谷气候区,在受损未治理区表现为半干旱干热河谷气候区亚热带湿润季风气候区,不同气候区内受损未治理区AWCD值均处于最低水平;亚热带湿润季风气候区土壤微生物的碳源利用类型明显多于半干旱干热河谷气候区,在不同气候类型区内碳源利用种类均表现为受损治理区未受损区受损未治理区的趋势;不同气候区土壤微生物群落碳源代谢多样性特征差异显著,其中多样性指数和均匀度指数均表现为未受损区受损治理区受损未治理区,而受损治理区均具有最高的丰富度指数;土壤微生物群落的碳源代谢特征与土壤养分、地上植被生物量及植被覆盖度具有一定的相关性,表明地震及其次生灾害主要通过对地表植被和土壤环境的作用间接影响土壤微生物群落的碳源利用能力,在不同气候类型区与不同的受损治理情况下土壤微生物群落的碳源代谢特征具有显著差异.     

磁改性羊粪衍生ZVI-生物炭的制备及其活化过一硫酸盐降解AO7特性研究

以羊粪为原料,制备磁改性羊粪衍生ZVI-生物炭复合材料 （SMF₈₀₀）,通过BET、SEM、XRD、N₂吸附-脱附等温线等对其表面形貌及晶体结构进行表征,并采用序批实验考查活化剂和过一硫酸盐 （PMS） 投加量、温度、溶液初始pH、无机阴离子等因素对AO7降解效率影响.结果表明,SMF₈₀₀拥有高度石墨化及多孔结构,在最佳条件下 （PMS=0.8 g·L^-1、SMF₈₀₀=0.5 g·L^-1、AO7=20 mg·L^-1、T=25 ℃）,40 min内AO7能被完全降解,在弱酸条件下有利于脱色,且活化剂经过3次循环使用后仍具有良好的活化效率.猝灭实验和XPS测试结果表明,自由基 （SO4- ?、·OH、O₂^·- ） 和非自由基途径 （¹O₂） 协同作用于AO7的降解,其中以Fe⁰还原PMS产生SO4- ?的自由基途径占主导地位,以Fe⁰诱导碳电子、生物炭表面含氧官能团 （C-OH 和COOH） 激活PMS产生¹O₂为辅,而SMF₈₀₀石墨化及大量的sp²-C结构为电子转移提供良好的场所.综上,本研究设计制备了一种新型的生物炭基ZVI活化剂,以期为有机废水高效、低成本的处理方法提供新的技术支撑,同时也为粪源资源化利用提供新的途径.     

高铁酸钾氧化降解氧氟沙星的机理

以喹诺酮类抗生素氧氟沙星（OFL）为目标物质,研究高铁酸钾（Fe （VI））对OFL的去除及氧化机理.采用高效液相色谱仪（HPLC）、液相色谱-质谱联用仪（UPLC-QTOF-MS）等方法,考察Fe （VI）投加量、pH值、温度和共存物质等因素对OFL降解效果的影响,分析反应动力学,计算过程中Fe （VI）的贡献率,识别Fe （VI）氧化OFL的产物并推测主要反应路径.结果表明：当Fe （VI）与OFL的物质的量比为40：1、pH值为8、温度为25℃时,反应30min后OFL的降解率达到92.38%,前5min快速反应阶段,OFL的降解符合伪二级反应动力学.反应过程的活化能为28.17kJ/mol.反应中Fe （VI）及中间高价态铁的贡献率为70.34%,且腐殖酸会显著抑制该反应.通过对氧化产物进行分析提出了Fe （VI）氧化OFL的3条主要路径.OFL经脱羧、去甲基、脱羰、羟基化等反应,实现其分子上喹诺酮取代基、哌嗪基环及恶嗪基环的开环.     

可见光激发下模拟海水中四环素光降解的机制和路径

为了探明海水体系中多相光催化降解污染物的机制和路径,研究了在可见光激发下不同介孔TiO₂光催化降解纯水和模拟海水中四环素(TC)的过程,明确了不同盐离子对光催化降解过程的影响.结合自由基捕获实验,电子自旋共振(ESR)光谱和中间产物分析研究了光降解污染物的主要活性物种和模拟海水中TC降解途径.结果表明,模拟海水中TC光催化过程会受到显著抑制,手性介孔TiO₂催化剂对TC光降解反应速率相比其在纯水体系降低了70%左右,而非手性TiO₂光催化剂在海水体系中几乎不能降解TC.模拟海水中阴离子对光降解过程影响较小,但Mg²⁺和Ca²⁺存在会显著抑制光催化过程.无论在纯水还是模拟海水中,可见光激发后催化剂产生的活性物种都是空穴为主,因此模拟海水中降解路径与纯水体系中相同.盐离子不会抑制活性物种的产生,但Mg²⁺和Ca²⁺会富集在TC分子中电负性强的原子周边,阻碍空穴等对TC分子中电负性强原子的攻击,从而抑制了光催化降解效率.     

Synergetic PM2.5 and O3 control strategy for the Yangtze River Delta, China

PM_2.5 concentrations have dramatically reduced in key regions of China during the period 2013–2017, while O₃ has increased. Hence there is an urgent demand to develop a synergetic regional PM_2.5 and O₃ control strategy. This study develops an emission-to-concentration response surface model and proposes a synergetic pathway for PM_2.5 and O₃ control in the Yangtze River Delta (YRD) based on the framework of the Air Benefit and Cost and Attainment Assessment System (ABaCAS). Results suggest that the regional emissions of NOx, SO₂, NH₃, VOCs (volatile organic compounds) and primary PM_2.5 should be reduced by 18%, 23%, 14%, 17% and 33% compared with 2017 to achieve 25% and 5% decreases of PM_2.5 and O₃ in 2025, and that the emission reduction ratios will need to be 50%, 26%, 28%, 28% and 55% to attain the National Ambient Air Quality Standard. To effectively reduce the O₃ pollution in the central and eastern YRD, VOCs controls need to be strengthened to reduce O₃ by 5%, and then NOx reduction should be accelerated for air quality attainment. Meanwhile, control of primary PM_2.5 emissions shall be prioritized to address the severe PM_2.5 pollution in the northern YRD. For most cities in the YRD, the VOCs emission reduction ratio should be higher than that for NOx in Spring and Autumn. NOx control should be increased in summer rather than winter when a strong VOC-limited regime occurs. Besides, regarding the emission control of industrial processes, on-road vehicle and residential sources shall be prioritized and the joint control area should be enlarged to include Shandong, Jiangxi and Hubei Province for effective O₃ control.