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.     

金属加工过程中应力状态的分析方法

分析简单地拉伸、压缩和扭转的情况时,应力状态能容易地被确定.但是,实际上在金属加工过程中材料是承受复杂的应力状态,在模具——工件接触面上增加有摩擦力.而且,这些应力和摩擦力一般地沿着接触面变化.准确的计算或预测载荷、力、应力和温度,不但对设计适宜的设备是重要的,而且对研究工艺期间材料的变化过程也是重要的.本文将讨论材料变形过程中所运用的主要分析方法及其优缺点.     

可持续旅游及其区域实现途径探讨—以井冈山风景名胜区为例

可持续旅游是 80年代中期以后提出的关于旅游业发展的新思想。经过十多年的不断拓展深化 ,已经得到世界各国的广泛认同 ,并作为跨世纪旅游业发展的战略指导思想。本文从可持续旅游的由来和对可持续旅游内涵实质的界定角度出发 ,结合可持续旅游实现途径的探讨 ,以井冈山风景名胜区为例 ,对风景区旅游业可持续发展进行了深入的探讨 ,为景区的发展规划提出了战略性构想 ,以期能对井冈山风景名胜区旅游资源的可持续利用和旅游业的可持续发展起到抛砖引玉的作用     

企业需要建立人性化的安全管理

由于我国对企业特别是海外来大陆投资的企业，缺乏严格的安全管理手段，致使不少企业屡次出现安全事故。为了减少企业安全事故的发生，提高企业安全度，要求企业在贯彻“安全第一，预防为主”的基本方针的基础上。建立“以人为本。以制度和伦理道德为约束的人性化的安全管理系统”。本文给出了该系统的模型，并对此模型进行了分析和解释，探讨了相关的几个理论基础，最后给出了人性化安全管理的实质。通过该系统的管理执行，使企业在尊重人权、尊重生命的前提下发展壮大，最终实现安全的全球化。     

项目决策阶段清洁生产分析方法的研究

企业在建设项目决策时就应该按照清洁生产的原则，从源头控制污染。提出了在项目决策中，应从产品选择、工艺路线选择、主要设备选型和节能降耗4个方面进行清洁生产的分析方法，通过此分析方法的应用，可以避免项目决策中的环境失误和降低企业的环境风险。     

Study on the Balance of Agricultural Water and Land Resources on Ningxia Plain

The article puts forward the process and means of regional water and land balance research, and then from two scenarios which are the balances under natural regulation and human intervention, calculated and analysed the balance between water and land on Ningxia Plain. For the balance under natural regulation named farmland water balance, using farmland water resource balance equation, the research estimated the monthly farmland＂ water balance of 8 major crops for all of the 12 counties on Ningxia Plain in the period of 1960-2001; for the balance under human intervention, the research estimated land-use water balance equation of the counties in 2000, and calculated the balance between land use and water resources including irrigating water of all the 12 counties on Ningxia Plain. Results showed that ①precipitation can not meet the water demand of the crops for growth and development on Ningxia Plain, and water shortage is the primary character of farmland water balance under natural regulation. ②the diversity of water and land balance of different counties is distinctly influenced by the crop structure, water quantity for irrigation and irrigation level. ③Irrigation water could meet the crop water demand on Ningxia Plain in 2000, but there was not much space to expand irrigating cultivated land.     

构筑防灾科技学院学生文化体系

文章从四个方面阐释学生文化体系的构成，即重在打基础，鼓励学生个性化发展；培植防灾学院自己的学生文化“精英”；创新与创业是学生文化的闪光点；培育一个好的学生文化的管理环境。做到此四点，就可办一个好的、有特点的、合格的高等学校。本文有的放矢，用事实来说话。