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321.
We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.  相似文献   
322.
In a population exhibiting partial migration (i.e. migration and residency tactics occur in the same population), the mechanisms underlying the tactical choice are still unclear. Empirical studies have highlighted a variety of factors that could influence the coexistence of resident and migratory individuals, with growth and body size considered to be key factors in the decision to migrate. Most studies suffer from at least one of the two following caveats: (1) survival and capture probabilities are not taken into account in the data analysis, and (2) body size is often used as a proxy for individual growth. We performed a capture–mark–recapture experiment to study partial migration among juvenile brown trout Salmo trutta at the end of their first year, when a portion of the population emigrate from the natal stream while others choose residency tactic. Bayesian multistate capture–recapture models accounting for survival and recaptures probabilities were used to investigate the relative role of body size and individual growth on survival and migration probabilities. Our results show that, despite an apparent effect of both size and growth on migration, growth is the better integrative parameter and acts directly on migration probability whereas body size acts more strongly on survival. Consequently, we recommend caution if size is used as a proxy for growth when studying the factors that drive partial migration in juvenile salmonid species.  相似文献   
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Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as “maspardin.” Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein–protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog (SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous “nonmammalian” species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.  相似文献   
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Phenolic compounds and their derivatives have been found in industrial wastewater, which pose threats to the natural environment. Ordered mesoporous carbon(OMC) has been identified as an ideal adsorbent possessing high specific surface area and large pore volume to alleviate these pollutants. A novel ordered mesoporous carbon was prepared using COK-19 template with the cubic Fm3 m structure for the first time. Ordered mesoporous silica COK-19 was synthesized and reported in 2015. Sucrose as the carbon precursor was impregnated into the mesopores of silica and converted to carbon through carbonization process using sulfuric acid as a catalyst. Ordered mesoporous carbon was obtained after the removal of silica framework using hydrofluoric acid. Boric acid was employed for the preparation of OMCs with tunable pore sizes in the range of 6.9–16.6 nm. Several characterization techniques such as nitrogen adsorption–desorption isotherms, transmission electron microscope(TEM), Fourier transform infrared spectroscopy, Boehm titration and elemental analysis were employed to characterize the OMCs. The pore size analysis and TEM images confirmed that OMC has replicated the mesostructure of the COK-19. Results obtained from adsorption kinetics and isotherms suggest that the Pseudo-second-order model and Langmuir isotherm well described the experimental data.  相似文献   
325.

Climate change is a global phenomenon that affects biophysical systems and human well-being. The Paris Agreement of the United Nations Framework Convention on Climate Change entered into force in 2016 with the objective of strengthening the global response to climate change by keeping global temperature rise this century well below 2 °C above pre-industrial levels and to pursue efforts to limit the temperature increase even further to 1.5 °C. The agreement requires all Parties to submit their “nationally determined contributions” (NDCs) and to strengthen these efforts in the years ahead. Reducing carbon emissions from deforestation and forest degradation is an important strategy for mitigating climate change, particularly in developing countries with large forests. Extensive tropical forest loss and degradation have increased awareness at the international level of the need to undertake large-scale ecological restoration, highlighting the need to identify cases in which restoration strategies can contribute to mitigation and adaptation. Here we consider Brazil as a case study to evaluate the benefits and challenges of implementing large-scale restoration programs in developing countries. The Brazilian NDC included the target of restoring and reforesting 12 million hectares of forests for multiple uses by 2030. Restoration of native vegetation is one of the foundations of sustainable rural development in Brazil and should consider multiple purposes, from biodiversity and ecosystem services conservation to social and economic development. However, ecological restoration still presents substantial challenges for tropical and mega-diverse countries, including the need to develop plans that are technically and financially feasible, as well as public policies and monitoring instruments that can assess effectiveness. The planning, execution, and monitoring of restoration efforts strongly depend on the context and the diagnosis of the area with respect to reference ecosystems (e.g., forests, savannas, grasslands, wetlands). In addition, poor integration of climate change policies at the national and subnational levels and with other sectorial policies constrains the large-scale implementation of restoration programs. The case of Brazil shows that slowing deforestation is possible; however, this analysis highlights the need for increased national commitment and international support for actions that require large-scale transformations of the forest sector regarding ecosystem restoration efforts. Scaling up the ambitions and actions of the Paris Agreement implies the need for a global framework that recognizes landscape restoration as a cost-effective nature-based solution and that supports countries in addressing their remaining needs, challenges, and barriers.

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326.

Tropical peat swamp forests (PSF) are characterized by high quantities of carbon (C) stored as organic soil deposits due to waterlogged conditions which slows down decomposition. Globally, Peru has one of the largest expanse of tropical peatlands, located primarily within the Pastaza-Marañón river basin in the Northwestern Peru. Peatland forests in Peru are dominated by a palm species—Mauritia flexuosa, and M. flexuosa-dominated forests cover ~?80% of total peatland area and store ~?2.3 Pg C. However, hydrologic alterations, land cover change, and anthropogenic disturbances could lead to PSF’s degradation and loss of valuable ecosystem services. Therefore, evaluation of degradation impacts on PSF’s structure, biomass, and overall C stocks could provide an estimate of potential C losses into the atmosphere as greenhouse gases (GHG) emissions. This study was carried out in three regions within Pastaza-Marañón river basin to quantify PSF’s floristic composition and degradation status and total ecosystem C stocks. There was a tremendous range in C stocks (Mg C ha?1) in various ecosystem pools—vegetation (45.6–122.5), down woody debris (2.1–23.1), litter (2.3–7.8), and soil (top 1 m; 109–594). Mean ecosystem C stocks accounting for the top 1 m soil were 400, 570, and 330 Mg C ha?1 in Itaya, Tigre, and Samiria river basins, respectively. Considering the entire soil depth, mean ecosystem C stocks were 670, 1160, and 330 Mg C ha?1 in Itaya, Tigre, and Samiria river basins, respectively. Floristic composition and calcium to Magnesium (Ca/Mg) ratio of soil profile offered evidence of a site undergoing vegetational succession and transitioning from minerotrophic to ombrotrophic system. Degradation ranged from low to high levels of disturbance with no significant difference between regions. Increased degradation tended to decrease vegetation and forest floor C stocks and was significantly correlated to reduced M. flexuosa biomass C stocks. Long-term studies are needed to understand the linkages between M. flexuosa harvest and palm swamp forest C stocks; however, river dynamics are important natural drivers influencing forest succession and transition in this landscape.

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/ It has been suggested that the general public should be moreinvolved in environmental policy and decision making. It is important forthem to realize that they will have to live with the consequences ofenvironmental policies and decisions. Consequently, policy makers shouldconsider the concerns and opinions of the general public before makingdecisions on environmental issues. This raises questions such as: How can weintegrate the perceptions and reactions of the general population inenvironmental decisions? What kind of public participation should weconsider? In the present study, using a new regional ecosystem model, weattempted to integrate these aspects in its decision making model byincluding the formation of an advisory committee to resolve problems relatedto waste management. The advisory committee requested the activeparticipation of representatives from all levels of the community: economic,municipal, and governmental intervenors; environmental groups; and citizens.Their mandates were to examine different management strategies available inthe region, considering all the interdisciplinary aspects of each strategy,elaborate recommendations concerning the management strategies that are mostsuitable for all, and collaborate in communication of the information to thegeneral population. The results showed that at least in small municipalitiessuch an advisory committee can be a powerful tool in environmental decisionmaking. Conditions required for a successful consultation process, such aseveryday lay language and the presence of a facilitator other than ascientific expert, are discussed.KEY WORDS: Public consultation; Environmental policies;Interdisciplinary aspects; Municipal sewage sludge management; Generalpopulation; Decision-making process  相似文献   
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