Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

A mother who had given birth to a child with Schwartz–Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz–Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.     

人类承载力"K值"影响因素

人类承载力“K值”表示地球能承载人口的极限值。“K值”的影响因素的繁多以及相互间的联系使得“K值”确切数值的计算成为一项非常艰巨的任务。通过分析人类与自然的关系，探讨人类承载力的微观影响因素及其相互关系，从开放生态系统的性质讨论人类承载力的宏观影响因素。从而得出人类承载力受渐变和突变因素的结合控制。以此揭开承载和调控人类种群的机理并预测“K值”的可能发展趋势，达到避免计算“K值”确切数值而又能提出人口增长对策和可持续发展的指导意见的目的。     

Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome

A healthy female with a brother suffering from Lesch–Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts. In our proposita's first pregnancy, a male fetus was identified carrying the risk allele. Afterwards, the underlying novel mutation A161E (GCA→GAA at position c482) could be identified in the affected brother and in the heterozygous mother but not in the DNA of the pregnant sister and fetus. The fetus was also confirmed to be normal by uptake of 14C-hypoxanthine in cultured amniotic cells. To test the discrepancy, the investigation was extended by recruiting additional family members. The data obtained showed that the mother had passed her risk haplotype to the affected son as well as to her mutation-carrying and non–mutation-carrying daughters. This provides the first evidence of concomitant somatic and germline mosaicism in Lesch–Nyhan syndrome. The study has a bearing on genetic counselling and cautions against the reliability of only using indirect genetic diagnosis even with intragenic markers. Copyright © 2004 John Wiley & Sons, Ltd.     

石棉表面改性对石棉诱导人胚肺细胞产生羟基自由基的影响

为了研究用柠檬酸铝、混合稀土或亚硒酸钠预处理温石棉对石棉诱导人胚肺(HEL)细胞产生羟基自由基(·OH)的影响,笔者用不同浓度的柠檬酸铝、混合稀土或亚硒酸钠溶液浸泡温石棉1小时后,再将其与人胚肺细胞共同孵育,利用电子自旋捕获法测定反应体系中羟基自由基信号。结果显示,石棉可诱导人胚肺细胞产生羟基自由基,并且所产生的自由基信号(峰高)随石棉浓度升高而增强,呈一定的剂量依赖性。经3种化合物预处理的温石棉组人胚肺细胞所产生的自由基信号(峰高)均明显低于未处理温石棉组。上述结果表明,温石棉可诱导人胚肺细胞产生羟基自由基,但用3种化合物预处理温石棉,均可抑制温石棉诱导人胚肺细胞产生羟基自由基。     

Can natural behavior be cultivated? The farm as local human/animal culture

Although the notion of natural behavior occurs in many policy-making and legal documents on animal welfare, no consensus has been reached concerning its definition. This paper argues that one reason why the notion resists unanimously accepted definition is that natural behavior is not properly a biological concept, although it aspires to be one, but rather a philosophical tendency to perceive animal behavior in accordance with certain dichotomies between nature and culture, animal and human, original orders and invented artifacts. The paper scrutinizes the philosophy of natural behavior as it developed in the organic movement in response to a perceived contrast between industrialized and traditional agriculture. There are two reasons for focusing on the organic movement: (i) the emphasis on “the natural” is most accentuated there and has a long history, (ii) everyday life on organic farms presupposes human/animal interplay, which conflicts with the philosophical tendency to separate nature from culture. This mismatch between theory and practice helps us see why, and how, the philosophy of natural behavior needs to be reconsidered. The paper proposes that we understand farms as local human/animal cultures, and asks what we can mean my natural behavior in such contexts. Since domestic animals adapt to agricultural environments via interaction with caretakers, such interplay is analyzed as “hub” in these animals’ natural behavior.     

影响我国民航飞行安全的个体与组织因素——基于HFACS框架的事件分析

主要通过民航事故征候(事件)的分析,对影响飞行安全的人的因素进行研究。数据分析主要采用编码分析的方法,结果发现:在个体层面,对事故征候影响顺序是技能差错、决策差错与知觉差错;机组内部的沟通与协调不畅在各个飞行阶段都存在;在组织层面,监督、资源管理、文化与氛围是比较有影响的组织因素;组织内部与外部的信息界面是飞行安全的隐患之一。与此同时,分析了该项目研究的不足之处,提出改善民航飞行安全的建并指出今后研究的方向。     

国有高新技术企业核心资源安全策略研究

市场经济条件下,任何企业在运营中都存在着风险,高新技术企业面临的环境更具动态性和复杂性,其面对的运营风险也更为复杂。由于国有高新技术企业在资源获取、经营管理方面所具有的特殊性,其知识产权、企业文化、人才等核心资源已成为国有高新技术企业安全运营、保持持续竞争优势的必要条件,因此,针对国有高新技术企业现状,笔者围绕人力资源、知识产权、企业文化3方面的安全问题进行研讨,并提出相应的策略即包括实行知识产权保护制度、构建以人为本的企业文化、防止人才流失的管理层收购和股票期权策略。     

核电厂运行人员可靠性研究中若干问题的分析

对已有人因可靠性分析模型进行归纳总结,结合核电厂运行人员可靠性研究实际,对人因分类、人因建模、数据采样及人因数据库完善等方面存在的问题进行分析,并提出可能的解决办法或研究方向:在人因分类方式上,要加强因素之间的细化程度,以降低评价的模糊性;在人因量化方面,要重点考虑其所依赖的HRA模型、数学依据、结果精确度等3个方面的影响;对待数据采集的问题,规范性数据采集平台的构建是确保数据一致性的关键措施,并有利于不同HRA模型之间接口相容性问题的解决;人因数据库管理系统的智能决策功能是研发设计的趋势。     

Human Dignity and the Dignity of Creatures

In their report for the Swiss government onthe notion of the dignity of creatures, PhilippBalzer, Klaus-Peter Rippe, and Peter Schaber analyzethe relationship between human dignity and the dignityof creatures, taking them as two categoricallydifferent concepts. Human dignity is defined as the``moral right not to be humiliated,' whereas thedignity of creatures is taken to be ``the inherentvalue of nonhuman living beings.' To my mind there isno need to draw a categorical distinction between thetwo concepts. Both notions could be brought togetherunder an all-encompassing concept of the inherentvalue of living beings, humans and non-humans alike,a concept one could name ``the dignity of livingbeings.' Indeed, this very notion underlies theposition taken in the report, although this is notmade explicit by the authors themselves.As the aim of the paper is only to clarify theconcepts used, I do not go beyond this ``internal'critique of their position, i.e., I don't assess howthe claims articulated via these concepts – theclaim that humans and/or creatures have an inherentvalue consisting in a supposed intrinsic good – areto be justified, although I myself would be ratherskeptical that this might be successfully done.