Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Study on Simulating Spatial Distribution and Varying Patterns of Urumqi＇s Population

In this paper, an approach to simulate the spatial distribution of urban population is proposed using urban land use and population statistical data through the geographical information systems （GIS）. Then, the spatial population distribution of Urumqi as a case is simulated by the approach mentioned above and its varying patterns are analyzed by the raster population surface. As a result, producing raster population surface is more accurate and natural than the traditional choropleth map of population density. Concerning the spatial population distribution of Urumqi, the population density declines from south to north and the population distribution mainly presents＇ ＂T-type＂, the population distribution presents multicentre agglomeration and the population distribution of the districts shows different features. The population density varies significantly with the increase in the distance from central business district （CBD）. Finally, it is found in this paper that the development history of districts, terrain and traffic road are main factors that have an influence Urumqi＇s population distribution. This paper tries to provide more accurate population data for the plan and management of urban land, traffic and public facilities in order to enrich the researches on urban population distribution.     

Cd/Sb/Pb复合污染对竺麻生长及吸收富集特征的影响

通过盆栽试验,分析了不同浓度Cd/Sb/Pb复合作用下苎麻的生长响应及重金属吸收、富集和迁移特征变化。结果表明,低浓度Cd/Sb/Pb复合处理对苎麻生长及生物量没有产生明显影响,而高浓度条件下则产生明显抑制效应,株高变矮,茎粗变细及生物量明显减少。苎麻体内Cd、Pb和Sb吸收量与污染土壤具有直接相关性,随复合处理浓度增加明显增大。至最高污染浓度处理时,苎麻体内重金属吸收量以Cd>Sb>Pb,地上部含量分别达335.74 mg/kg、157.55 mg/kg和92.31 mg/kg。复合处理下苎麻地上部对Cd、Sb和Pb的富集系数分别在0.67~0.88、0.13~0.17和0.05~0.06之间,均表现为随复合处理浓度增加而减少变化。苎麻Cd、Sb和Pb的转运系数分别为0.81~0.92、0.38~0.46和0.53~0.73,其中Cd、Sb的转运系数随复合处理浓度增加而增大,Pb则随复合处理浓度增加而减少。苎麻对重金属Cd/Sb/Pb复合污染具有较好吸收累积及转运能力,相比生物量小的植物而言,是目前修复重金属Cd/Sb/Pb复合污染的理想植物。     

CO2倍增和施氮对水稻不同生长期土壤反硝化细菌丰度的影响

随着全球气候变化的不断加剧,大气CO₂浓度呈明显增加趋势,这将间接影响土壤-植物-微生物系统的氮循环过程.为研究典型水稻土壤反硝化细菌对CO₂浓度升高的响应规律和机制,借助水稻密闭培养箱,运用实时荧光定量聚合酶链式反应（Real-Time qPCR）分子技术,设置不施氮（0 mg/kg）和常规施氮（100 mg/kg）2个处理,研究CO₂倍增对水稻不同生长期土壤关键反硝化功能细菌（narG、nirK和nirS型）丰度的影响.结果表明:①在2种施氮水平,CO₂倍增显著促进了水稻分蘖期、孕穗期、扬花期和成熟期水稻根系生长（增幅为2.96%~28.4%）、地上部生物量增加（增幅为7.1%~107.3%）以及成熟期籽粒干质量的增加（增幅为19.5%和38.0%）,具有显著的增产效应.②反硝化细菌丰度对CO₂倍增的响应与生育期及施氮水平有关,CO₂倍增在2个施氮水平均抑制分蘖期反硝化细菌的繁殖,显著增加孕穗期反硝化细菌数量;在水稻扬花期,CO₂倍增促进了施氮处理narG和nirS型反硝化细菌数量的增加,在成熟期抑制未施氮处理下narG、nirK和nirS型反硝化细菌的生长.另外,narG、nirK、nirS型反硝化细菌丰度整体表现为narG > nirS > nirK,且随水稻的生长,其在成熟期的丰度均呈降低趋势.nirK和nirS基因同属亚硝酸还原酶,但nirS基因丰度高于nirK,且对CO₂倍增和施氮的响应有所差异.研究显示,CO₂倍增可显著增加水稻生长和产量,不同施氮水平对稻田土壤反硝化细菌丰度的影响存在差异.      

人类活动净氮输入时空变化特征及其影响因素——以香溪河流域为例

为了阐明人类活动对三峡库区第一大支流香溪河流域氮输入的影响程度,基于人类活动净氮输入（NANI）模型估算了2001~2015年间香溪河流域乡镇水平的人类活动净氮输入,分析了氮输入的主要来源及其动态变化.结果表明：时间尺度上,香溪河流域人类活动净氮输入（NANI）因氮素施用的变化而呈现先上升后下降最后上升的趋势,但2015年相对2001年的NANI下降了143kg N/（km²·a）;空间尺度上,香溪河流域NANI整体呈现北低南高的分布格局,其中NANI输入强度差异较大的区域主要有昭君镇、峡口镇和黄粮镇.从人类活动净氮输入的组成上来看,氮肥施用仍然是最主要的来源（40.06%）,其次为大气氮沉降（29.98%）和食品/饲料净氮输入（27.75%）,作物固氮仅占净氮输入总量的2.21%.香溪河流域的NANI与人口密度和耕地面积比例极显著相关（P<0.001）;而NANI与河流氮输出的相关性不显著,香溪河流域河流氮输出占NANI的比例仅为24.28%.因此,可以通过减少氮素施用降低流域尺度氮素净输入量,但该流域NANI与河流氮输出无直接的响应关系.     

国土空间规划“三条控制线”划定的沈阳实践与优化探索

国务院机构改革前,生态保护红线、永久基本农田、城镇开发边界三条控制线分别由国家不同部委主导划定,存在划定过程统筹协同不够、划定结果交叉重叠、实施管理困难等问题。国务院机构改革后,自然资源部负责建立国土空间规划体系,要求在资源环境城镇能力和国土空间开发适宜性评价基础上,自上而下逐级统筹划定落实三条控制线。本文总结了沈阳作为试点城市,在三条控制线划定中的矛盾冲突表现与成因,构建三条控制线与生态、农业、城镇三大空间关系,建立管控体系与调整规则,并阐释在市级权限范围内的调整优化做法。研究发现：三条控制线存在空间交叉重叠、功能难以区分的现象,主要是因为基本农田承担了限制城市空间蔓延的使命,指标不允许跨行政区调整导致部分基本农田不得不安排到城镇内部;由于概念界定不同导致部分城市公园被划入生态保护红线;生态保护红线内的部分耕地被先期划为永久基本农田。提出国土空间规划背景下三条控制线优化建议：一是突出既是政策线又是技术线的特征,自上而下和自下而上相结合划定;二是国家自上而下对基本农田调整政策和制度进行创新;三是建立事权分级管理机制,合理预留地方事权弹性。     

人口与可持续发展

有限的资源不能支撑无限增加的人口，面对高速增长的人口，人们产生了种种不同的认识。本文分析了人口增长与食物供给，人口增长与生态环境和经济发展的矛盾；阐述了最大人口容量及经济最优人口计算需要考虑的因素和基本；提出我国必须坚持严格控制人口增长的政策，这是可持续发展的需要。     

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright © 2001 John Wiley & Sons, Ltd.