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...     

Evaluation and analysis of heavy metals in iron and steel industrial area

Environment, Development and Sustainability - Heavy metal pollution has attracted more attention due to the toxicity and migration characteristics, which has close relationship with soil...     

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.     

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。     

Investigating the bacterial community and amoebae population in rural domestic wastewater reclamation for irrigation

Reclamation of domestic wastewater for agricultural irrigation is viewed as a sustainable option to create an alternative water source and address water scarcity. Free-living amoebae(FLA), which are amphizoic protozoa, are widely distributed in various environmental sources. The FLA could cause considerable environmental and health risks. However, little information is available on the risk of these protozoa. In this study, we evaluated the feasibility using rural domestic wastewater for agricultural irrigation, and analyzed dynamic changes of the microbial community structure and FLA populations in raw and treated wastewater, as well as the phyllosphere and rhizosphere of lettuce production sites that were irrigated with different water sources. The bacterial community dynamics were analyzed by terminal restriction fragment length polymorphism(T-RFLP). The bacterial community structures in the influent were similar to that in the effluent, while in some cases relative abundances varied significantly. The populations of Acanthamoeba spp. and Hartmannella vermiformis in the anaerobically treated wastewater were significantly higher than in the raw wastewater. The vegetables could harbor diverse amoebae, and the abundances of Acanthamoeba spp. and H. vermiformis in the rhizosphere were significantly higher than in the phyllosphere. Accordingly, our studies show insight into the distribution and dissemination of amoebae in wastewater treatment and irrigation practices.     

重庆九龙坡城区和城郊大气污染物浓度特征研究

为了解重庆市九龙坡区城区和城郊大气污染物浓度特征,分析了城区和城郊国控空气站点2014年3月~2015年2月典型污染物的浓度变化。结果表明,除O_3表现出夏高冬低的季节变化趋势外,其它污染物均表现出冬高夏低的季节变化趋势。PM_(2.5)污染最严重,城区和郊区日均值超标率分别为31.4%和33.4%。城区和城郊的PM_(2.5)浓度之间没有显著性差异(p0.05),城郊O_3浓度显著高于城区(p0.01),NO_2、SO_2、CO和PM_(10)则是城区显著高于城郊(p0.01)。