Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright © 2002 John Wiley & Sons, Ltd.     

A simulation model for the effects of burning on the phosphorus and nitrogen cycle of a heathland ecosystem

In this paper, a simulation model is presented for nutrient cycling in heathland ecosystems. The results of simulations are compared with field data of phosphorus and nitrogen accumulation in different compartments of the system in the years after burning, given in the literature on this subject (Chapman, 1967; 1970). It is shown that for the cycling of P the system returns slowly to equilibrium after an initial disturbance. The time span of about 30 years that is required to reach equilibrium is in agreement with the field data. However, P accumulation in living above-ground biomass and litter is overestimated by the model in the first years after burning. Nitrogen accumulation in biomass and litter is systematically underestimated by the model.The results are discussed with reference to the processes in nutrient cycling that are insufficiently understood, and with reference to the management of heathlands.     

Thorium accumulation in the sedimentary environment of the Vigo Ria (NW Iberian Peninsula)

Thorium levels and their association with Fe, Sc, Ca, and Particulate Organic Carbon (POC) were researched in sediments of the Vigo Ria in order to assess the influence of radioactive gneisses from the neighbouring continental Gali?eiro Complex. Sediment of 50 surface samples and 1 core was analysed by ICP-MS and the results were validated with certificate reference material from marine sediment. It was found that Th accumulates in the middle Ria zone (9-15 mg kg(-1)) as a result of the terrestrial source. The thorium concentration in the Ria (average: 9.4+/-5.1 mg kg(-1)) is not anthropogenically impacted in accordance with its own regional background level (11.4+/-3.5 mg kg(-1)), which is two times higher than the content in earth's crust. Throughout the relationship Th/Fe, Th may be associated with the iron cycle in the Ria, probably through iron oxy-hydroxide scavenging.     

Initial study on the effects of Prestige oil on human health

The big oil tanker Prestige wrecked at 130 miles from the coast of Galicia, on the Northwest of Spain, in November 19, 2002. During the accident over 40,000 tons of oil were spilled, and along the next weeks 22,000 more reached the shore in the way of three black tides. A great number of people participated in the cleaning tasks. The objective of this study was to initially evaluate the damage caused by Prestige oil in exposed individuals both from the cytogenetic and the endocrine points of view. Exposure level was determined by analysing volatile organic compounds in the environment and heavy metals in blood. Cytogenetic damage was determined by sister chromatid exchanges (SCE), and plasmatic prolactin and cortisol levels were used as biomarkers of endocrine toxicity. Finally we have determined the possible influence of GST genetic polymorphisms (GSTM1 and GSTT1 deletion polymorphisms, GSTP1 Ala105Val) on the evaluated effects. The exposed population was classified according to the performed cleaning tasks in three groups: volunteers that collaborated for 1 week (N=25), hired manual workers (N=20) and hired high-pressure cleaner workers (N=23). The control population consisted of 42 individuals. Exposure to Prestige oil caused cytogenetic damage in exposed individuals, being its effect influenced by age, sex, tobacco consumption and GSTM1 polymorphism. With regard to endocrine toxicity, our results showed that xenobiotics present in Prestige oil induced alterations in hormonal status, and thus it may be considered as an endocrine disruptor. Therefore, the selected parameters have shown to be good indicators of toxicity related to exposure to Prestige oil. In addition, data obtained point to the importance of using protective devices in preventing the effects related to the exposure.     

Redesign of a component based on ecodesign practices: environmental impact and cost reduction achievements

This paper focuses on ecodesign and its application in the footwear industry aiming to identify how the ecodesign can be applied to the redesign of a shoe component in order to minimize the environmental impact and simultaneously reduce costs of production and assembling. The factors that influence the use of ecodesign, the benefits and the difficulties were also investigated. A longitudinal case study was developed in a company that produces shoe stiffeners. The process of ecodesign implementation and the practices of ecodesign considered during the product redesign were analyzed. A cost reduction of about 10% was observed (in relation to the use of natural fibers and polymers in its composition-31% of biomass and 69% of fossil material). Toxic materials were completely eliminated and a reduction of energy consumption was also noticed (during the injection process). The main contributions of this study are: ecodesign constructs to be further researched the conjoint analysis of technological ability and market potential in a redesign project, and the requirements to gain managerial support for a redesign project.     

草原生物多样性监测指标体系构建的探讨

草原生物多样性监测目前已成为草原生物多样性研究和保护的热点问题。草原生物多样性监测指标则是一些简化的生物或环境特征参数,说明草原生物多样性现状和变化趋势,以及人类活动压力对草原生物多样性的影响,以促进科学界、政府和公众间的沟通,提高草原生物多样性管理水平。本文综述了草原生物多样性监测指标筛选的一般标准和指标体系构建的主要理论,梳理目前已提出或应用的主要生物多样性监测指标,以期为我国构建国家或区域尺度生物多样性监测指标体系提供参考。