Second trimester two-step trisomy 18 screening using maternal serum markers

Trisomy 21 maternal serum marker screening has led to screening for other anomalies, including trisomy 18. Trisomy 18 is generally prenatally diagnosed because of major morphological defects. However, in up to 30% of cases ultrasound signs are unclear, and in most cases diagnosis is performed late in pregnancy. Of the different maternal serum markers, PAPP-A is now considered as the best for trisomy 18 screening. However, pregnancy-associated plasma protein A (PAPP-A) is of value in first trimester screening for trisomy 21, but not in the second trimester. We therefore propose a two-step screening strategy. Based on 45 trisomy 18 cases, we confirm the values of alpha-fetoprotein (AFP) (median 0.61 MoM), free β-human chorionic gonadotrophin (β-hCG) (median 0.24 MoM) and of PAPP-A (median 0.08 MoM). In the first step, a 0.5 MoM cut-off for AFP or for free β-hCG resulted in detection of 37/45 trisomy 18 cases (82%) with a 10% false-positive rate. The second step consisted of the measurement of PAPP-A for all these false-positive cases. Using a PAPP-A cut-off of 0.5 MoM, all the 37 trisomy 18 cases were detected, but now with a 0.1–0.2% false-positive rate. Amniocentesis was only offered to these few patients. This two-step second trimester screening will be of value for patients who have not been included in first trimester screening based on nuchal translucency (NT) measurement combined with the first trimester markers, PAPP-A and free β-hCG. Copyright © 2002 John Wiley & Sons, Ltd.     

Shifts within ecological modernization in South Africa: Deliberation, innovation and institutional opportunities

Sustainable development is now widely accepted as a policy framework in planning and development both internationally and in South Africa. Within this framework, technocentric scientific approaches to environmental management, which are reflective of weak ecological modernization, have dominated environmental practice both in the developed and developing world. South Africa is a country in transition and as a result environmental law and policy have undergone significant reform. However, implementation and practice remains embedded within a weak ecological modernization approach. Through the lens of two case studies reflecting changing approaches and practices within state institutions, this paper explores the shifts taking place in the construction, adaptation and application of policy frameworks and tools used in the drive towards sustainability in South Africa. The research uses critical approaches to ecological modernization (Hajer, 1995; Christoff, 1996) and deliberative policy analysis (Hajer and Wagenaar, 2003; Hajer, 2003, 2003; Hajer, 2004) to explore these shifts. It suggests that the shift towards strong ecological modernization has taken place as a result of the adaptation of international practice to the South Africa context, the global acceptance of more integrated approaches, the opportunities for change that 'institutional ambiguity' and 'multi-signification' create, and pockets of innovation that have developed when intellectual actors shift the boundaries of environmental practice.     

In‐Situ Plasma Remediation of Contaminated Soils

Plasma‐torch technology has excellent potential for cost‐effective treatment of contaminated soils and other types of buried waste material. This article describes the evolution and basic features of this technology, with emphasis on the non‐transferred plasma arc torch. In addition, selected results from both laboratory experiments and field demonstrations will show how this technology can successfully destroy hazardous/toxic materials and/or stabilize contaminants in situ so they are no longer a threat to human health and the environment. © 2001 John Wiley & Sons, Inc.     

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.     

非洲的小规模渔业、人口动态和资源利用--以加纳莫里为例

我们研究莫里的人口动态和渔业资源的开发和持续利用问题.莫里是加纳中部靠近海岸角的一个有2万人口的以捕鱼为生的小镇.莫里的情况说明人口动态和渔业资源之间的关系要比"马尔萨斯过度捕捞说"复杂得多.这其中的原因包括:西非沿岸上升流不断变化的生物物理特征;全年中捕捞活动性质和数量上的变化;市场状况和鱼产品的异地需求;捕捞活动有规律的迁移以及规范当地和迁移目的地渔业资源使用的制度.莫里的人口和资源的关系可能是渔业资源和经济变化影响了人口迁移而不是人口压力影响了渔业资源.渔业管理政策必须考虑当地渔民影响之外的过程和因素.     

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations. Copyright © 2004 John Wiley & Sons, Ltd.     

Sustaining local values through river basin governance: community-based initiatives in Australia's Murray–Darling basin

Australia's Murray–Darling basin (MDB) water plan is an ambitious attempt to balance ecological, social and economic benefits, where a key aspect of the reform process has been recovery of water for environmental use. This paper focuses on a set of initiatives established by a local non-governmental organisation and an Indigenous community designed to engage with local values and priorities and incorporate them into this complex river basin governance system. Contrary to expectations that local and basin-scale interests and outcomes will diverge, the case studies reveal the ability for local groups to collaboratively manage both land and water resources to achieve locally important outcomes, and contribute to basin-scale outcomes. The analysis also highlights a progressive style of community-based environmental management for water management that utilises multiple institutional arrangements and planning pathways to protect the values that are important to local communities, and to nest those values within the broader effort to sustainably manage the basin's water resources.     

Adaptation in a multi-stressor environment: perceptions and responses to climatic and economic risks by coffee growers in Mesoamerica

While climate change adaptation policy has tended to focus on planned adaptation interventions, in many vulnerable communities, adaptation will consist of autonomous, “unplanned” actions by individuals who are responding to multiple simultaneous sources of change. Their actions are likely not only to affect their own future vulnerability, but, through changes in livelihoods and resource use, the vulnerability of their community and resource base. In this paper, we document the autonomous changes to livelihood strategies adopted by smallholder coffee farmers in four Mesoamerican countries (Mexico, Guatemala, Honduras, and Costa Rica). Our aim is to gain insight into the process of autonomous adaptation by proxy: through an assessment of how farmers explain their choices in relation to distinct stressors; and an understanding of the set of choices available to farmers. We find that climatic stress is a feature in decision making, but not the dominant driver. Nevertheless, the farmers in our sample are evidently flexible, adaptive, and experimental in relation to changing circumstances. Whether their autonomous responses to diverse stressors will result in a reduction in risk over time may well depend on the extent to which policy, agricultural research, and rural investments build on the inherent logic of these strategies.