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.     

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

Effect of combined addition amount of nano zero-valent iron and biochar on methane production by anaerobic digestion of corn straw

Environment, Development and Sustainability - Anaerobic digestion (AD) is an attractive straw resource treatment technology as it can improve the utilization efficiency of straw resource. Raw straw...     

石臼漾人工湿地冬夏季全程氨氧化微生物的分布、群落结构及其影响因素研究

湿地作为水体与陆地之间的过渡地带,具有独特的生态环境特性,是氮循环反应的关键区域.研究湿地生态系统中的全程氨氧化过程（complete ammonia oxidation,comammox）,解析该区域中comammox细菌的分布与群落结构特征,补充了此前该新型氨氧化微生物在湿地生态系统中分布特征的研究空白,对于完善comammox细菌在各种不同生态系统中分布情况的研究具有重要意义.本研究在石臼漾人工湿地中于冬夏两季分别采集了大沟中心、大沟边缘、小沟中心和小沟边缘的表层沉积物样品,利用PCR、荧光定量PCR和amoA功能基因高通量测序等方法,解析人工湿地中comammox细菌的时空分布与群落结构特征.主要研究结果如下：①所有样品中均检测到了comammox细菌,其丰度为1.77×10⁵~4.07×10⁷ copies·g^-1.冬季,comammox细菌丰度在大沟中高于氨氧化细菌（ammonia oxidizing bacteria,AOB）和氨氧化古菌（ammonia oxidizing archaea,AOA）,在小沟中高于AOB,但低于AOA;夏季,comammox细菌丰度在所有样点中均高于AOB和AOA.②冬夏两季样品中,comammox细菌丰度与底物NH₄⁺-N浓度均呈负相关关系,且夏季样品中呈显著性负相关.③主坐标分析（Principle Coordinate Analysis,PCoA）与多样性分析结果表明,comammox细菌群落结构具有空间异质性,且冬季物种多样性高于夏季.     

An investigation of changes in water quality throughout the drinking water production/distribution chain using toxicological and fluorescence analyses

Changes in water quality from source water to finished water and tap water at two conventional drinking water treatment plants(DWTPs) were monitored.Beside the routine water quality testing,Caenorhabditis elegans-based toxicity assays and the fluorescence excitation–emission matrices technique were also applied.Both DWTPs supplied drinking water that met government standards.Under current test conditions,both the investigated finished water and tap water samples exhibited stronger lethal,genotoxic and reprotoxic potential than the relative source water sample,and the tap water sample was more lethal but tended to be less genotoxic than the corresponding finished water sample.Meanwhile,the nearly complete removal of tryptophan-like substances and newly generated tyrosine-like substances were observed after the treatment of drinking water,and humic-like substances were identified in the tap water.Based on these findings,toxic pollutants,including genotoxic/reproductive toxicants,are produced in the drinking water treatment and/or distribution processes.Moreover,further studies are needed to clarify the potentially important roles of tyrosine-like and humic-like substances in mediating drinking water toxicity and to identify the potential sources of these contaminants.Additionally,tryptophan-like fluorescence may be adopted as a useful parameter to monitor the treatment performance of DWTPs.Our observations provided insights into the importance of utilizing biotoxicity assays and fluorescence spectroscopy as tools to complement the routine evaluation of drinking water.     

区域产业结构转型升级水平与旅游扶贫效率耦合关系——以武陵山片区为例

以武陵山片区42个国家级贫困县（市、区）为案例地,综合运用SBM模型、改进的熵值法与耦合协调模型,揭示产业结构转型升级水平与旅游扶贫效率耦合协调关系的时空演化特征。结果表明:（1）武陵山片区整体及各分片区产业结构转型升级指数均呈波浪式变化,湖北片区、重庆片区以及武陵山片区整体的旅游扶贫效率呈上升态势,而湖南片区和贵州片区略有下降;（2）产业结构转型升级水平与旅游扶贫效率不耦合、不协调的县域单元主要集中在武陵山片区中部,数量逐年减少,实现耦合和协调的县域数量显著增加并向边缘地带形成集聚态势;（3）不耦合失调（类型1）向耦合协调（类型2）转变是核心转变路径,促使类型2的地区数量显著增多,并逐渐在研究区域边缘形成带状分布。研究可为集中连片特困地区产业结构优化升级和跨越贫困陷阱提供参考借鉴。     

北京市气温与黑碳和PM2.5对疾病死亡影响的交互效应

通过收集北京市2010~2016年逐日呼吸和心脑血管疾病死亡数据、污染物（BC、PM_2.5、SO₂、O₃和NO₂）日均浓度资料以及同期的气象资料,采用广义相加模型（GAMs）中的主效应模型、非参数二元响应模型和温度分层模型探讨了北京市气温、PM_2.5和BC单效应,以及气温与PM_2.5和BC交互作用分别对呼吸和心脑血管疾病死亡人数的影响.单效应分析结果表明,气温与两种疾病死亡人数的累计暴露-反应关系均呈“J”型分布特征,最适温度为24℃;累计滞后一天情况下PM_2.5和BC的健康效应均最显著,此时PM_2.5和BC浓度每升高四分位间距（IQR）,呼吸系统疾病死亡人数超额增加百分比（ER）分别为2.21%和1.80%,心脑血管疾病死亡人数ER分别为2.02%和1.48%.交互作用的研究结果表明,高温与高浓度的PM_2.5（或BC）对疾病死亡的影响存在协同效应,且高温条件下BC对疾病死亡影响的健康风险大于PM_2.5,当气温大于24℃时,BC和PM_2.5浓度每升高IQR对应的呼吸系统疾病死亡人数ER分别为6.22%和6.17%,心脑血管疾病死亡人数ER分别为5.01%和3.97%.虽然BC只占PM_2.5的一部分,但BC对人群健康的影响不容忽视,应该引起足够的重视.     

颗粒物分界层Mie散射激光雷达识别的sigmoid算法

基于成都市2013年6月~2015年5月期间由Mie散射激光雷达探测的大气消光系数廓线资料,发现混合层以上在颗粒物消光和分子消光之间一致存在一个S型的过渡区,利用sigmoid函数对此分布形态进行模拟,通过计算该函数上下曲率最大点所在的高度,据此提出了颗粒物分界层Mie散射激光雷达识别的sigmoid算法.针对该算法模拟效果的分析表明,颗粒物分界层过渡区附近大气消光系数理论廓线和实测廓线保持了高度的相关性,二者在春夏秋冬四季的相关系数（R）分别为0.9971±0.0052、0.9935±0.0167、0.9979±0.0038和0.9990±0.0021（均通过α=0.05的显著性检验）.基于sigmoid算法计算的颗粒物分界层过渡区与成都市温江站探空资料得到的逆温层之间存在很好的对应关系.