Prenatal detection of X-linked ichthyosis by maternal serum screening for down syndrome

Maternal serum unconjugated oestriol (uE3) was measured in 15 375 pregnancies during 2 years of second-trimester risk assessment for Down syndrome using biochemical markers. Very low levels of uE3 (<0·1 MOM) were detected in 22 serum samples (0·14 per cent). Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage (N=11), anencephaly (N=1), and Meckel—Gruber syndrome (N=1). Dry scales on the skin appeared in the first year of life in four boys. From dermatological diagnosis, prenatal uE3 levels, and pedigree analysis, it is concluded that at least 5 in approximately 7500 male births in the study population are affected by steroid sulphatase deficiency, which is the biochemical defect in X-linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.     

Incremental cost-effectiveness of incorporating oestriol evaluation in down syndrome screening programmes

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost-effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE₃), especially when used in conjunction with maternal serum α-fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost-effectiveness of adding uE₃. Using the base case assumptions, including an $8 fee for the uE₃, the incremental cost-effectiveness of adding uE₃ to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE₃ in Down syndrome screening programmes.     

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

Flow cytometric method to measure urea-resistant alkaline phosphatase from blood neutrophils for use in the prenatal screening of Down's syndrome

The histochemical measurement of urea-resistant alkaline phosphatase from maternal blood neutrophils is known to have a high detection rate for the prenatal detection of Down's syndrome pregnancies. However, because the histochemical method is laborious and subjective to use, it has not gained widespread acceptance in prenatal screening programmes. We present a simple and objective method for the measurement of urea-resistant alkaline phosphatase by flow cytometry. The method should allow the design of larger studies aimed at evaluating the role of neutrophil urea-resistant alkaline phosphatase in the prenatal screening for Down's syndrome.     

Carrier screening for cystic fibrosis

A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.     

腹泻性贝类毒素的分析方法研究

本文描述了腹泻性贝类毒素的的特性，给出了已知的９种毒物成分的化学结构式衣不同毒物成分的毒性大小及毒理效应，对已有的该毒素的定量分析方法，包括生物分析法和化学分析法进行了剖析，重点阐述了化学分析法中的高效液相色谱分析法，介绍了法国目前使用的腹性贝毒的预警系统，并对我国该领域的研究提出了自己的建议。     

Assessing the impact of pesticides on the environment

Pesticide use in agriculture can cause undesirable effects on humans and the natural environment. One of the objectives of integrated agriculture is the elimination or reduction of possible sources of environmental pollution such as pesticides. To achieve this objective, farmers need a method to assist them in estimating the environmental impact of pesticide use. This paper addresses a two-part question: what factors should be taken into consideration to assess pesticide environmental impact, and how can impact be quantified? As the environmental impact of a pesticide depends on its dispersion in the environment and on its toxicological properties, the literature on these topics is reviewed to address the first part of the question. To address the second part of the question, six recent approaches to assess the impact of pesticides on the environment are compared regarding choice, transformation and aggregation of input parameters. The use of simulation models to assess environmental impact is discussed.     

有证标准样品的应用及其管理方法探讨

介绍了有证标准样品的定义和主要作用,详细阐述了有证标准样品在检测实验室的7个主要应用领域、正确使用指南和科学管理方法,以保证检测实验室检测结果的准确和量值溯源性。     

优化整合地表水环境质量标准分析方法

本文简述了我国《地表水环境质量标准》中分析方法已不适应现代分析技术的发展,归纳总结了地表水中无机元素和有机物污染物的最新分析方法。通过整合优化,分析地表水109项指标由原来的80余种精简至32种方法。     

Cultivating hybrid collectives: research methods for enacting community food economies in Australia and the Philippines

Across the globe, groups are experimenting with initiatives to create alternatives to the dominant food system. What role might research play in helping to strengthen and multiply these initiatives? In this paper we discuss two research projects in Australia and the Philippines in which we have cultivated hybrid collectives of academic researchers, lay researchers and various non-human others with the intention of enacting community food economies. We feature three critical interactions in the “hybrid collective research method”: gathering, which brings together those who share concerns about community food economies; reassembling, in which material gathered is deliberatively rebundled to amplify particular insights; and translating, by which reassembled ideas are taken up by other collectives so they may continue to “do work”. We argue that in a climate-changing world, the hybrid collective research method fosters opportunities for a range of human and non-human participants to act in concert to build community food economies.