Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) β-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16–17 weeks' gestation). We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the CPT2 gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation. Copyright © 2003 John Wiley & Sons, Ltd.     

Views of the City: Multiple pathways to sustainable transport futures

In this paper we look behind the notion of sustainable transport and highlight the tensions and contradictions between the different ways of achieving this. The paper examines transportation plans for a major UK city and describes how these develop the idea and practice of sustainable transport and demand management along three quite distinct trajectories. By focusing on both the technological and the institutional dimensions of three different routes to sustainable transport, the analysis explicates the different ways in which the urban transport problem is framed, the different socio-technical logics of demand management embodied in the plans and the differing ways in which institutional relationships are (re)constituted. A key finding is that technological and institutional innovations are inversely related so that radical technological innovation often serves to reinforce existing social relations of power and exclusion. The conclusion drawn is that the choice is not just between a sustainable and an unsustainable transport future, but also between different forms of sustainability.     

An expanded conceptual framework for solution-focused management of chemical pollution in European waters

Background

This paper describes a conceptual framework for solutions-focused management of chemical contaminants built on novel and systematic approaches for identifying, quantifying and reducing risks of these substances.

Methods

The conceptual framework was developed in interaction with stakeholders representing relevant authorities and organisations responsible for managing environmental quality of water bodies. Stakeholder needs were compiled via a survey and dialogue. The content of the conceptual framework was thereafter developed with inputs from relevant scientific disciplines.

Results

The conceptual framework consists of four access points: Chemicals, Environment, Abatement and Society, representing different aspects and approaches to engaging in the issue of chemical contamination of surface waters. It widens the scope for assessment and management of chemicals in comparison to a traditional (mostly) perchemical risk assessment approaches by including abatement- and societal approaches as optional solutions. The solution-focused approach implies an identification of abatement- and policy options upfront in the risk assessment process. The conceptual framework was designed for use in current and future chemical pollution assessments for the aquatic environment, including the specific challenges encountered in prioritising individual chemicals and mixtures, and is applicable for the development of approaches for safe chemical management in a broader sense. The four access points of the conceptual framework are interlinked by four key topics representing the main scientific challenges that need to be addressed, i.e.: identifying and prioritising hazardous chemicals at different scales; selecting relevant and efficient abatement options; providing regulatory support for chemicals management; predicting and prioritising future chemical risks. The conceptual framework aligns current challenges in the safe production and use of chemicals. The current state of knowledge and implementation of these challenges is described.

Conclusions

The use of the conceptual framework, and addressing the challenges, is intended to support: (1) forwarding sustainable use of chemicals, (2) identification of pollutants of priority concern for cost-effective management, (3) the selection of optimal abatement options and (4) the development and use of optimised legal and policy instruments.

     

Near-real-time determination of hydrogen peroxide generated from cigarette smoke

The ability to monitor hydrogen peroxide (H2O2) in aqueous smoke extracts will advance our understanding of the relationship between cigarette smoke-induced oxidative stress, inflammation, and disease and help elucidate the pathways by which the various smoke constituents exert their pathogenic effects. We have demonstrated, for the first time, the measurement of H2O2 production from cigarette smoke without prior separation of the sample. Cigarettes were tested on a commercial smoking machine, such that the whole smoke or gas vapor phase was bubbled through phosphate buffered saline solution at pH 7.4. Aliquots of these solutions were analyzed using an Amplex Red/horseradish peroxidase fluorimetric assay that required only a 2 minute incubation time, facilitating the rapid, facile collection of data. Catalase was used to demonstrate the selectivity and specificity of the assay for H2O2 in the complex smoke matrix. We measured approximately 7-8 microM H2O2 from two reference cigarettes (i.e., 1R4F and 2R4F). We also observed 9x more H2O2 from whole smoke bubbled samples compared to the gas vapor phase, indicating that the major constituent(s) responsible for H2O2 formation reside in the particulate phase of cigarette smoke. Aqueous solutions of hydroquinone and catechol, both of which are particulate phase constituents of cigarette smoke, generated no H2O2 even though they are free radical precursors involved in the production of reactive oxygen species in the smoke matrix.     

The determination of ambient formaldehyde using a dual coil system and an assessment of dominant factors that influence its abundance in Korea

An enhanced dual coil 2,4-dinitrophenylhydrazine (DNPH) derivatization method (dual coil/DNPH) allowed the quantitative determination of formaldehyde (HCHO) in ambient air. In this method, traceable HCHO was collected using a coil sampler connected in series and lacking a long sampling tube. It was then analyzed using liquid chromatography followed by UV detection of the DNPH derivatives. The method is based on the reaction of formaldehyde with DNPH to produce 2,4-dinitrophenylhydrazone. The detection limits (3σ) were 0.10–0.40 ppbv with a precision ranging from 0.84 to 4.09% RSD. The results of dual coil/DNPH and conventional DNPH cartridge methods were generally well correlated: HCHO (dual coil/DNPH) = 0.97 (±0.13) vs. HCHO (DNPH Cartridge) + 0.33 (±0.33), r = 0.82. The dual coil/DNPH method was used to measure gaseous HCHO in the atmosphere of Metropolitan Seoul during the summer 2000 and 2001, and in Gwangju during the fall of 2001 and 2002. The daytime mean concentration of HCHO was 4.52 (±5.69) and 3.21 (±1.27) ppbv in Metropolitan Seoul for 10–12 August 2000 and 29–31 May 2001, respectively, and 1.73 (±0.98), 3.04 (±2.25), 2.70 (±1.70), and 2.01 (±2.28) ppbv in Gwangju City during 22–27 September 2001, 17–24 October 2001, 9–13 October 2002, and 28 October to 2 November 2002, respectively. The HCHO in Seoul from 10–12 August 2000 was mainly the result of photochemical processes, while direct emissions from vehicles and long-range transport of air from China contributed during 29–31 May 2001. During 22–27 September 2001, 17–24 October 2001, and 9–13 October 2002 in Gwangju, the HCHO came primarily from photochemical processes, although some air affected by biomass burning admixed in the late afternoon. The increase in the HCHO concentration on 20 October 2001 and from 28 October to 2 November 2002 was attributed mainly to direct emissions from biomass burning in farmland near the measurement site.     

Costs of expanding the network of protected areas as a response to climate change in the Cape Floristic Region

The expansion of protected areas is a critical component of strategies to promote the continued existence of biodiversity (i.e., life at all levels of biological organization) as climate changes, but scientific, social, and economic uncertainties associated with climate change are some of the major obstacles preventing such expansion. New models of climate change and species distribution and new methods of conservation planning now make it possible to explore the uncertainties associated with climate changes and species responses. Yet few reliable estimates of the costs of expanding protected areas and methods for determining these costs exist, largely because of the many (and uncertain) determinants of these costs. We developed a cost-accounting model to estimate the range in costs of various options for expanding protected areas and to explore the variables that drive these costs. Model development was informed by an existing plan to expand protected areas in the Cape Floristic Region of South Africa to address species conservation under a scenario of climate change. The 50-year present value of total costs varied from US$260 million ($1077/ha) for an off-reserve option that involves agreements with landowners and no compensation of forgone production and associated revenue to $1020 million ($4228/ha) for an on-reserve option that involves land acquisition and protection. The costs of acquiring land or compensating landowners for forgone production and development opportunities were the major drivers of the total costs across all options because most of the area identified in the protected-area expansion plan consisted of urban and high-quality agricultural lands. Total costs were also affected by changes in protected area extent and discount rate. Model-generated outputs such as these may be useful for informing implementation strategies and the allocation of future efforts in monitoring, data collection, and model development.