Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Revisiting the plant hyperaccumulation criteria to rare plants and earth abundant elements

The several established criteria to define a hyperaccumulator plant were applied to a rare and endangered species, Plantago almogravensis, and to the 3rd most abundant element in the earth crust, Al. Using the most common criteria, P. almogravensis undoubtedly is an Al hyperaccumulator plant. If the recent proposed requirements were considered, most of them matching those for a plant to be used in phytoextraction, it can only be considered an unusual accumulator of Al. A discussion is made concerning the several criteria of a hyperaccumulator plant in order to include rare and endemic ones and abundant elements. In ecological terms, the enrichment in Al and Fe observed may account for the differences in the vegetation pattern. Due to the rarity and endangered nature of this plant, the contribution of this work is also relevant for the ecological understanding and the development of conservation options of this endemic species.     

Temperature and water pressure head effects on the degradation of the diketonitrile metabolite of isoxaflutole in a loamy soil under two tillage systems

Laboratory studies were conducted to evaluate the effects of temperature and water pressure head on the degradation of the diketonitrile metabolite (DKN) of isoxaflutole during 84 d in samples collected in a loamy soil under conventional (CT) and conservation (MT) tillage systems. Soil temperature was the major factor controlling DKN degradation in the two tillage systems. The shortest half-lives (T_1/2) were measured in the seedbed samples under MT at 25 °C and −33 cm water pressure head. We found that mouldboard ploughing under CT was responsible for the spatial variability of herbicide degradation properties, whereas under MT herbicide degradation was associated to the vertical distribution of organic matter.     

Effects of ocean temperature on the southern range limits of two understory kelps, <Emphasis Type="Italic">Pterygophora californica</Emphasis> and <Emphasis Type="Italic">Eisenia arborea</Emphasis>, at multiple life-stages

Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico, by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or (b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically, while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast, the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja California, as well as to the north along the California coast where both species co-occur.     

Evolution of a Mediterranean Coastal Zone: Human Impacts on the Marine Environment of Cape Creus

This study presents an integrated analysis of the evolution of the marine environment and the human uses in Cape Creus, a Mediterranean coastal area where intense commercial fisheries and recreational uses have coexisted over the last fifty years. The investigation synthesizes the documented impacts of human activities on the marine environment of Cap de Creus and integrates them with new data. In particular, the evolution of vulnerable, exploited species is used to evaluate the fishing impacts. The effects of area protection through the establishment of a marine reserve in the late 1990s and the potential climate change impacts are also considered. The evolution of the human uses is marked by the increasing socioeconomic importance of recreational activities (which affect species and habitats) in detriment to artisanal and red coral fisheries (which principally affect at a species level). Overall, populations of sedentary, vulnerable exploited species, hard sessile benthic invertebrates, and ecologically fragile habitats, such as seagrass meadows, the coralligenous and infralittoral algal assemblages have been the most negatively impacted by anthropogenic activities. Albeit human uses currently constitute the largest negative impact on the marine environment of Cap de Creus, climate change is emerging as a key factor that could have considerable implications for the marine environment and tourism activities. The establishment of the marine reserve appears to have had little socioeconomic impact, but there is some evidence that it had some positive biological effects on sedentary, littoral fishes. Results demonstrate that the declaration of a marine reserve alone does not guarantee the sustainability of marine resources and habitats but should be accompanied with an integrated coastal management plan.     

GCM-based analysis of water availability along the Tone River and Tokyo Metropolitan Area under climatic changes

Tone River supplies most of the water requirements of the Tokyo Metropolitan Area (TMA). Lowering of Tone flow and yearly fluctuation, however, is causing water shortage along TMA nowadays. This study investigated the future water availability scenarios under climatic changes. A state-of-the-art approach to utilize the output of several GCM has been demonstrated to investigate the future water availability scenarios for TMA from the Tone River. An integrated modeling approach for water balance considering several hydrological risk indices was adopted to quantify the future changes in this case. It is observed that the future summer precipitation along the Tone basin is going to be increased considerably, while an almost constant or decreasing trend is observed for winter season. Natural flow availability for winter or spring seasons thus can be crucial under future scenarios. After reservoir routing, the hydrological risk indices estimated, however, were not found to be changed significantly due to the presence of a robust reservoir system at the upstream.     

Volunteer Macroinvertebrate Monitoring: Tensions Among Group Goals,Data Quality,and Outcomes

Volunteer monitoring of natural resources is promoted for its ability to increase public awareness, to provide valuable knowledge, and to encourage policy change that promotes ecosystem health. We used the case of volunteer macroinvertebrate monitoring (VMM) in streams to investigate whether the quality of data collected is correlated with data use and organizers' perception of whether they have achieved these outcomes. We examined the relation between site and group characteristics, data quality, data use, and perceived outcomes (education, social capital, and policy change). We found that group size and the degree to which citizen groups perform tasks on their own (rather than aided by professionals) positively correlated with the quality of data collected. Group size and number of years monitoring positively influenced whether a group used their data. While one might expect that groups committed to collecting good-quality data would be more likely to use it, there was no relation between data quality and data use, and no relation between data quality and perceived outcomes. More data use was, however, correlated with a group's feeling of connection to a network of engaged citizens and professionals. While VMM may hold promise for bringing citizens and scientists together to work on joint conservation agendas, our data illustrate that data quality does not correlate with a volunteer group's desire to use their data to promote regulatory change. Therefore, we encourage scientists and citizens alike to recognize this potential disconnect and strive to be explicit about the role of data in conservation efforts.     

Making Capacity Building Meaningful: A Framework for Strategic Action

This paper aims to give practical meaning to ‘capacity building’ through (a) identifying a suite of practical measures, such as mentoring or best practice guidelines, that have been shown to or are considered to build human, social, institutional, and economic capital; (b) placing these measures within a broader systems framework; and (c) exploring stakeholder feedback on specific measures to inform framework implementation. The 29 measures described provide actors, whether government or nongovernment, with a suite of practical investment choices for building capacity. These measures are then clustered into eight groups according to their primary purpose and placed within a systems framework. The framework provides a tool for actors with responsibilities for or an interest in capacity building to inform more holistic and strategic targeting of effort and investment. Stakeholder feedback gathered through surveys and workshops is subsequently reported to further inform implementation of specific measures within the framework’s eight groupings. The framework presented may be built upon through the identification and inclusion of further capacity building measures. The research is conducted within the context of decentralized governance arrangements for natural resource management (NRM), with specific focus on Australia’s recently formalized 56 NRM regions and their community-based governing boards as an informative arena of learning. Application of the framework is explored in the Australian setting through the identification and comparison of measures supported and most preferred by four major stakeholder groups, namely board members, regional NRM organization staff, policy/research interests, and Indigenous interests. The research also examines stakeholder perceptions of capacity issues, and whether these issues are likely to be addressed through implementing their preferred measures.