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.     

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.     

考虑环境污染物减排的石油储运策略研究

随着经济的快速发展,科技水平不断地提高,中国石油行业发展迅速,石油储运的技术也在不断提高。对考虑环境污染物减排的石油储运策略进行研究,对石油储运的过程中出现污染源以及产生的危害进行论述,在此基础上对石油储运污染物减排存在的障碍性因素进行说明,最后针对上述问题,提出石油储运策略对污染物减排相应的解决措施,由变频调速污染物的减排技术、可燃气体的排放与回收技术等措施对石油储运策略的污染物减排进行优化,减少污染物的排放,对生态环境进行保护。     

Multi-objective, decision-based assessment of a water quality monitoring network in a river system

Water quality monitoring network design has historically tended to use experience, intuition and subjective judgement in locating monitoring stations. Better design procedures to optimize monitoring systems need to simultaneously identify significant planning objectives and consider a number of social, economic and environmental constraints. The consideration of multiple objectives may require further decision analysis to determine the preference weights associated with the objectives to aid in the decision-making process. This may require the application of an optimization study to extract such information from decision makers or experts and to evaluate the overall effectiveness of locating strategies. This paper assesses the optimal expansion and relocation strategies of a water quality monitoring network using a two-stage analysis. The first stage focuses on the information retrieval of preference weights with respect to the designated planning objectives. With the aid of a pre-emptive goal programming model, data analysis is applied to obtain the essential information from the questionnaire outputs. The second stage then utilizes a weighted multi-objective optimization approach to search for the optimal locating strategies of the monitoring stations in the river basin. Practical implementation is illustrated by a case study in the Kao-Ping River Basin, south Taiwan.     

Assessment of China's economic loss resulting from the degradation of agricultural land in the end of 20th century

Land degradation is a consequence stemming from both natural processes and social economic activities. On the bases of analyzing general situation of agricultural land degradation in China, the monetary estimating methods such as market value method and shadow engineering method were used to quantitatively assess the economic loss resulting from land deterioration. Results showed that the economic loss in 1999 was 326.8l billion RMB Yuan, which accounted for 4.1% of GDP in the same year of China. If taking five items namely farmland conversion, soil erosion, salinization, decline in reservoir functions, and siltation in waterways and, comparing with that in 1992, the percentage of economic loss to GDP has increased by 1.5 in the only 7 years.     

Effects of atmospheric mercury pollution on terrestrial ecosystem in Chongqing, China

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Simulating dairy liquid waste management options as a nitrogen source for crops

Large scale dairy operations are common. In many cases the manure is deposited on a paved surface and then removed with a flushing system, after which the solids are separated, the liquid stored in ponds, and eventually the liquid applied on adjacent crop land. Management of liquid manure to maximize the fertilizer value and minimize water quality degradation requires knowledge of the interactive effects of mineralization of organic N (ON) to NH₄⁺, crop uptake of mineral N, and leaching of NO₃⁻ on a temporal basis. The purpose of the research was to use the ENVIRO-GRO model to simulate how the amount of applied N, timing of N application, ON mineralization rates, chemical form of N applied, and irrigation uniformity affected (1) yields of corn (Zea mays) in summer and a forage grass in winter in a Mediterranean climate and (2) the amount of NO₃⁻ leached below the root zone. This management practice is typical for dairies in the San Joaquin Valley of California. The simulations were conducted for a 10-year period. Steady state conditions, whereby an equivalent amount of N applied in the organic form will be mineralized in a given year, are achieved more rapidly for materials with high mineralization rates. Both timing and total quantity of N application are important in affecting crop yield and potential N leaching. Major conclusions from the simulations are as follows. Frequent low applications are preferred to less frequent higher applications. Increasing the amount of N application increased both the crop yield and the amount of NO₃⁻ leached. Increasing irrigation uniformity increased crop yields but had variable effects on the amount of NO₃⁻ leached. A winter forage crop following a summer corn crop effectively reduced the leaching of residual soil N following the corn crop.