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.     

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.     

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.     

SUSTAINABILITY AT THE LOCAL LEVEL: MANAGEMENT TOOLS AND MUNICIPAL TAX INCENTIVE MODEL

The implementation of sustainable development may seem a simple concept when written on paper. However to carry-out long term actions put forward by the Agenda 21 (AG21) at the local level represents one of the main challenges as municipal governments in general do not have the capacity to effectively implement the process. Regional environmental assessment (REA) has shown to be effective in supporting decision-making not only to correct environmental problems due to past unsustainable social-economic developments but also help local governments to implement sustainable actions. However this requires long-term investments of AG21 plans and projects. The allocation of regular and consistent financial resources is one of the main ingredients for the sustainable development process. But traditional plans and projects financed by national and/or international funds may not be sustainable in the long-term because they become dependent on external funding. Research demonstrate that innovative economic instruments such as ecotaxes represent a feasible alternative to sponsor local sustainability because taxes are collected permanently by the government and could be invested in continuous actions. Ecotaxes experiences have provided important reference to structure a municipal incentive model (MIM) to sponsor AG21’s environmental plans and projects on a long-term (permanent) basis. However sustainable development cannot be solely through economic investments. A comprehensive municipal environmental management scheme (MEMS) has been established to support the incentive model. The scheme seeks not only to improve local institutional framework but also incentive continuous participation of local stakeholders at all levels of society. Participatory events and the provision of incentives (educational and financial) are key to motivate society to protect the environment and support actively the sustainable development process as emphasised in the RIO-92 Conference.     

DDT in fish from the Bulgarian region of the Black Sea

In spite of a worldwide reduction in the utilization of organochlorine pesticides (OCPs), they are still a problem for the aquatic environment and human health. The Black Sea is still being polluted with persistent chemicals, including OCPs. Aquatic organisms (sprat, scad, bluefish, shad, belted bonito, goby, and black mussel) with different feeding behaviours were sampled on a seasonal basis from the Bulgarian region of the Black Sea, and the concentrations of 13 OCP residues were determined. Although many of the OCPs were not detected in the samples, in all samples 1,1,1-trichloro-2,2-bis(4-chlorophenyl) ethane (DDT) was present mainly in the form of its metabolites 1,1-dichloro-2,2-bis(4-chlorophenyl) ethane (DDD) and 1,1-dichloro-2,2-bis(4-chlorophenyl) ethylene (DDE). Only about 12% of the total DDT was present as the parent compound pp-DDT, which suggests that it was not being used recently in the region. The total DDT concentrations were generally below 150 μg kg^-1 fresh weight, but higher levels—up to 354 μg kg^-1 fresh weight—were also measured for fish species with a high fat content. Between-species differences were observed, even when the concentrations were presented on a fat-level basis. DDT concentrations did not show any significant changes over the 2-yr sampling period. Fish sampled in the northern areas of the Bulgarian Black Sea coast seemed to contain higher DDT levels than those from the southern areas, suggesting a major (historical) influence of the Danube River. For permanent monitoring purposes, the utility of Black Sea gobies and scad should be considered.     

Estimates of animal methane emissions

The enteric methane emissions into the atmospheric annually from domestic animals total about 77 Tg. Another 10 to 14 Tg are likely released from animal manure disposal systems. About 95% of global animal enteric methane is from ruminants, a consequence of their large populations, body size and appetites combined with the extensive degree of anaerobic microbial fermentation occurring in their gut. Accurate methane estimates are particularly sensitive to cattle and buffalo census numbers and estimated diet consumption. Since consumption is largely unknown and must be predicted, accuracy is limited often by the information required, i.e., distribution of animals by class, weight and productivity. Fraction of the diet lost as enteric methane mostly falls into the range of 5.5–6.5% of gross energy intake for the world's cattle, sheep and goats. Manure methane emissions are heavily influenced by fraction of disposal by anaerobic lagoon. Non-ruminants, i.e., swine, become major contributors to these emissions.