Klinefelter Syndrome: What should we tell prospective parents?

Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under-virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.     

PGD for monogenic disorders: aspects of molecular biology

Preimplantation genetic diagnosis (PGD) for monogenic diseases has known a considerable evolution since its first application in the early 1990s. Especially the technical aspects of the genetic diagnosis itself, the single-cell genetic analysis, has constantly evolved to reach levels of accuracy and efficiency nearing those of genetic diagnosis on regular DNA samples. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for monogenic disorders, including multiplex polymerase chain reaction (PCR) and post-PCR diagnostic methods, whole genome amplification (WGA) and multiple displacement amplification (MDA). As it becomes more and more clear that when it comes to ethically difficult indications, PGD goes further than prenatal diagnosis (PND), we will also briefly discuss ethical issues. Copyright © 2008 John Wiley & Sons, Ltd.     

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM. Copyright © 2004 John Wiley & Sons, Ltd.     

McKusik-Kaufman syndrome: prenatal diagnosis,genetics and follow up

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright © 2002 John Wiley & Sons, Ltd.     

环境监测全过程管理信息系统的研究与开发

考察了环境监测日常业务流程并将其划分为７个步骤，分析了数据流，在此基础上提出一套技术方案，推荐了实现全过程管理的技术关键，给出了厦门市环境监测全过程管理信息系统的开发实例。该系统已经用于生成环境质量报告书要求的各类报表，管理污染信息和生成各类地理图形，效果良好。     

小型企业的废弃物管理问题

中、小型企业缺乏有关企业社会责任活动的参与。尽管单独的中、小型企业对环境的影响不大,但中、小型企业集合起来对环境的影响还是很明显的。企业所有者-管理者的管理方式和道德观念会影响到企业的决策。因此,会对企业的环境行为有直接的影响。虽然,倡导利用环境保护建立企业竞争优势,但许多企业的实施成本是不可能转移给消费者的。本文简要的综述了有关文献后,报告了对这一问题的探索性调查,结果表明无论小企业的管理者怎样表达出对环境问题的关心,都不能转化为较好的废弃物管理。     

Future use and development of prenatal diagnosis. Consumers' attitudes

The rapid progress of prenatal diagnosis and genetic tests makes it important to investigate attitudes towards this development. A total of 40 women and 20 men with personal experience of prenatal diagnosis for chromosome aberrations were interviewed about their moral opinion of the development. The majority (88 per cent) considered it certain or probable that all new methods developed will also be used in the future. The majority (62 per cent) were hesitant about testing for common disorders, e.g., diabetes mellitus and rheumatoid arthritis, but regarded it justified in some situations. One-third of the individuals (31 per cent) wanted some kind of restrictions for the use of the tests, but only 13 per cent recommended legislation for this purpose. The majority (84 per cent) believed that ethical principles are influenced by scientific progress. In most aspects, the women and their partners had similar attitudes. However, 82 per cent of the women but only 20 per cent of the men considered that the couple itself should decide about prenatal diagnosis. The results demonstrated a considerable respect regarding the difficult choices associated with the development of prenatal diagnosis, also among those who have decided in favour of the test. The study indicated a greater need for autonomy among women than among men.     

Artificial intelligence,fetal echocardiography,and congenital heart disease

There has been a recent explosion in the use of artificial intelligence (AI), which is now part of our everyday lives. Uptake in medicine has been more limited, although in several fields there have been encouraging results showing excellent performance when AI is used to assist in a well-defined medical task. Most of this work has been performed using retrospective data, and there have been few clinical trials published using prospective data. This review focuses on the potential uses of AI in the field of fetal cardiology. Ultrasound of the fetal heart is highly specific and sensitive in experienced hands, but despite this there is significant room for improvement in the rates of prenatal diagnosis of congenital heart disease in most countries. AI may be one way of improving this. Other potential applications in fetal cardiology include the provision of more accurate prognoses for individuals, and automatic quantification of various metrics including cardiac function. However, there are also ethical and governance concerns. These will need to be overcome before AI can be widely accepted in mainstream use. It is likely that a familiarity of the uses, and pitfalls, of AI will soon be mandatory for many healthcare professionals working in fetal cardiology.     

Sex selection and non-invasive prenatal testing: A review of current practices,evidence, and ethical issues

Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex determination will facilitate sex-selective termination of pregnancy (TOP). Here, we review current practices, the evidence for a link between NIPT and sex-selective TOP, and associated ethical issues. Sex-selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex-selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex-selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.     

新时代中国自然资源研究的机遇与挑战

党的十九大报告提出建设中国特色社会主义新时代对自然资源综合研究和管理实践提出了新的需求。20世纪90年代以来在大规模的自然资源综合科学考察任务完成之后,自然资源综合研究逐渐成为资源学界的关注重点。新时代下自然资源研究面临着各种机遇和挑战。本文论述了山水林田湖草和联合国可持续发展目标（SDGs）与自然资源关联关系,重点探讨了当今国内外最为关注的四种典型关联研究主题,即资源—资产—资本关联、能源—资源—技术关联、食物—水—能源关联、能源—水—土地—碳排放关联,并结合新时代提出的政策导向,提出应对地缘政治风险、气候变化、国际贸易不确定性、重大应急事件等问题的新视角及相关建议,旨在为自然资源研究相关学科发展及创新能力建设提供新的思路。结果表明：百年未有的时代变革对自然资源的地位与作用产生了深刻影响,亟需加强自然资源的基础理论研究并尽早设立自然资源研究重大研发计划,为服务于国家自然资源战略及重大工程需求提供重要的科技支撑。     

对造船业海洋环境影响报告的剖析

《中华人民共和国防治海岸工程建设项目污染损害海洋环境管理条例》颁布实施以来,对各评估单位进行环境评审的工作起了指导性作用,但在实施过程中,评估单位对《海洋环境影响报告》编制格式的理解偏差而造成某些章节所论述的内容与标题意图不符,或论述分析不够全面等问题。本文通过对《海洋环境影响报告》编制格式的剖析,提出了一些建议与看法以供各相关单位参考。     

不同时间尺度下杭州市O3污染特征及控制因素

通过集中整治,我国空气质量已经有了明显改善,但在减排背景下近地面高ρ(O₃)仍是当前最复杂的大气环境问题之一.利用2011—2017年(尤其是杭州市G20峰会期间)ρ(O₃)、ρ(NO_x)、ρ(VOCs)和气象条件观测数据,分析了杭州市G20峰会期间及不同时间尺度下杭州市ρ(O₃)的变化特征及其影响因素.结果表明:①杭州市ρ(O₃)日变化呈单峰型特征,15:00左右ρ(O₃)达最大值(98.55 μg/m3);ρ(O₃)周变化存在“周末效应”,周末ρ(O₃)明显高于工作日;1 a中4—9月为ρ(O₃)高值期,ρ(O₃)峰值出现在5月和9月.以2013年为界,将2011—2017年ρ(O₃)变化分成下降和上升2个阶段,2011—2013年呈下降趋势,降幅约为15.02 μg/m3,2014—2017年呈上升趋势,增幅约为23.25 μg/m3.②减排措施的实施对ρ(O₃)存在双重作用,其可通过降低前体物质量浓度抑制O₃的生成,又能引起大气污染物质量浓度下降、太阳辐射增强,从而促进O₃的生成.当O₃前体物质量浓度较低时,在强太阳辐射等气象条件驱动下,近地面仍会呈现高ρ(O₃)的现象.③气象条件是驱动ρ(O₃)日、月变化的控制因素;相反,前体物质量浓度则是ρ(O₃)周、年变化的控制因素,此时VOCs或NO_x控制区、“周末效应”等ρ(O₃)变化特征开始显现.研究显示,不同时间尺度下杭州市O₃污染的控制因素不同.      

Personal desires of patients and social obligations of geneticists: applying preimplantation genetic diagnosis for non-medical sex selection

The arguments against the use of preimplantation genetic diagnosis (PGD) for non-medical sex selection are analysed. It is concluded that the distinction between medical and non-medical reasons is difficult to maintain, that the disproportionality of means and end is not a decisive counterargument and that the fear of damage to the reputation of PGD does not justify the refusal of controversial applications. Moreover, since non-medical sex selection does not belong to basic health care, it should not be equally accessible to all. The position defended in this article is founded on two basic principles: (1) medical reasons have priority on non-medical reasons, and (2) personal reasons do not qualify for public funding. In order to respect both principles, it is proposed that restrictions should be installed to control the number of requests for social sexing and that a tax should be imposed on these elective services. The tax should compensate the society for the investment it made in the training and education of the physician. Copyright © 2002 John Wiley & Sons, Ltd.     

Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review

Embryonic aneuploidies may be responsible for pregnancy failure in many IVF patients. In recent years, fluorescent in situ hybridisation (FISH) for multiple chromosomes has been used to document a high frequency of chromosomal errors and aneuploidy in human preimplantation embryos and, after embryo biopsy, to select embryos that are more likely to implant. Such studies suggest that women with recurrent miscarriage and advanced maternal age may benefit most from preimplantation genetic diagnosis with aneuploidy screening (PGD-AS). The success of PGD-AS is likely to be enhanced by new technologies, such as comparative genomic hybridisation, which enable full karyotyping of single cells. Copyright © 2002 John Wiley & Sons, Ltd.     

在用机动车环保管理——《2013年中国机动车污染防治年报》（第Ⅳ部分）

环境保护部日前发布《2013年中国机动车污染防治年报》,公布了2012年全国机动车污染排放状况。本期“研究成果展示”专栏以六篇形式连载。本文刊载关于在用机动车环保管理的内容,以飨读者。该年报指出,2012年,全国参加环保定期检验的汽车共有5561．7万辆,占全国汽车保有量的51．3％。天津、重庆、等61个城市汽车环保定期检验率达到80％以上。截至2012年底,全国累计核发环保检验合格标志5981．3万枚,标志发放率达到55．2％。天津市、长春、南京、杭州等32个城市机动车环保检验合格标志发放率达到90％以上。截至2012年底,北京、重庆、天津、辽宁、江苏、内蒙古、陕西、山西、安徽、四川10省（自治区、直辖市）环境保护部门成立了专门的省级机动车环保监管机构;长春、南京、青岛等84个城市组建了相应的市级机动车环保监管机构,与2010年相比、全国共增加机动车专职监管机构27个。2012年,天津市、河北省、四川省政府出台了省级机动车污染防治管理办法;呼和浩特市人大通过了机动车污染防治条例;邢台、晋城、佳木斯等市政府出台了机动车污染防治政府规章。     

论我国西部大开发战略中的旅游开发与贫困消除

大量调查研究表明,许多地区旅游资源的分布与贫困人口的分布是高度重叠的,尤其是那些区位偏远以及交通不便的地区,自然景观受人类活动干扰较小,自然生态系统保存较为完整,适合开发、发展生态旅游产业。因此,将旅游开发与扶贫有机结合应是消除贫困的最有效途径。论文针对这一问题论述了如下若干问题:其一,我国贫困县的分布与高品位生态旅游资源的分布高度重叠;其二,我国贫困县的分布与这些生态旅游资源的分布均在中西部地区,消除贫困与发展中西部旅游应是西部大开发战略的重要组成部分;其三,旅游在扶贫方面的优势是其他任何产业所无可比拟的;其四,应着手构建中国PPT旅游(ProPoorTourism,即有利于贫困人口发展的旅游)战略以及发展PPT旅游的战略措施,以期尽快消除我国的贫困问题。     

Air quality and climate change: Designing new win-win policies for Europe

Anthropogenic activities are responsible for the emission of gaseous and particulate pollutants that modify atmospheric composition. Such changes are, in turn, responsible for the degradation of air quality at the regional/local scale as well as for changes of climate. Air pollution and climate change are two intimately connected environmental issues. However, these two environmental challenges are still viewed as separate issues, which are dealt with by different science communities and within different policy frameworks. Indeed, many mitigation options offer the possibility to both improve air quality and mitigate climate change but, at the same time, mitigation options that may provide benefits to one aspect, are worsening the situation in the other. Therefore, coordinated actions taking into account the air quality-climate linkages are required. These actions need to be based on strong scientific grounds, as recognised by the European Commission that in the past few years has promoted consultation processes among the science community, the policy makers and the relevant stakeholders. Here, the main fields in which such coordinated actions are needed are examined from a policy perspective.     

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Molecular karyotyping using chromosome microarray analysis (CMA) detects more pathogenic chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations. We consider the risk of harm to a woman or her fetus following the detection of a copy number variant of uncertain significance, whether it is ethically justifiable to withhold any test result information from a woman, what constitutes an ‘informed choice’ when women are offered CMA in pregnancy and whether clinicians are morally responsible for ‘unnecessary’ termination of pregnancy. Although we are cognisant of the distress associated with uncertain prenatal results, we argue in favour of the autonomy of women and their right to information from genome-wide CMA in order to make informed choices about their pregnancies. We propose that information material to a woman's decision-making process, including uncertain information, should not be withheld, and that it would be paternalistic for clinicians to try to take responsibility for women's decisions to terminate pregnancies. Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives. © 2012 John Wiley & Sons, Ltd.     

Emerging design strategies in sustainable production and consumption of textiles and clothing

This study contributes to current knowledge of sustainability in textile and clothing production and consumption. When the textile and clothing industry aims to promote sustainability, the main change factors have been linked to eco-materials and ethical issues in production. At present, however, business models are mainly linked with a large volume of sales and production. Although industrial development has moved toward smaller environmental impact, production as well as consumption has increased to levels where the benefits of technological development are reduced. A change is thus needed to reach a systemic transformation, not only in production but also in consumption. The aim of this paper is to open up the discussion on opportunities for radical change in this industry. The paper presents ways to rethink and redesign business in the textile and clothing field by offering an overview on several design strategies that exist today in niche markets. Furthermore we evaluate how interested consumers are in these design strategies and discuss the opportunities these design approaches offer to sustainable development through new value creation.     

中国环保非政府组织（ENGO）发展初探

随着环境问题的日益严重，中国的环保非政府组织（ENGO）不断涌现和发展，成为保护生态资源、防治环境污染、唤起公民环保意识和促进公众参与的重要力量。然而，受诸多因素制约，中国ENGO的发展不尽如人意。因此分析中国ENGO的发展困境、探讨促进其发展的建议对于发挥ENGO的积极作用，促进可持续发展具有重要的意义。文章以厦门市绿十字环保志愿者中心为例，剖析了中国ENGO的发展困境及其产生的原因，并在此基础上探讨了改善中国ENGO发展的几点设想。