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21.
S. Savas S. Eraslan S. Kantarci B. Karaman D. Acarsoz T. Tükel O. Cogulu F. Ozkinay S. Basaran K. Aydınlı M. Yuksel-Apak B. Kirdar 《黑龙江环境通报》2002,22(8):703-709
Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
22.
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. 相似文献
23.
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. 相似文献
24.
Ricardo Braun 《Environment, Development and Sustainability》2007,9(4):387-411
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. 相似文献
25.
The unicellular alga Tetraselmis (Platymonas) subcordiformis (Prasinophyceae) displayed a two-phase increase in DMSP (dimethylsulfoniopropionate) contents in response to nitrogen deficiency. In the first phase, DMSP pools increased by 75% within 24 h. The second increase in DMSP was observed after 14 d and was accompanied by cyst formation. Methionine metabolism was involved in DMSP accumulation. A 2.6-fold increase of the DMSP pool could be induced by supplementing a complete ASP (artifical seawater Provasoli) medium with 100 M L-methionine. Inhibition of methionine utilization by T. subcordiformis caused by the addition of S-adenosylhomocystein, a competitive inhibitor of S-adenosylmethionine-dependent transmethylases, resulted in a 24% increase of DMSP contents after 7 h. DMSP accumulation after hyperosmotic shock was significantly delayed when methionine liberation from proteins was inhibited by a set of protease inhibitors. A model for the mechanism of DMSP accumulation is presented on the basis of these data and additional information from the literature. It is proposed that methionine availability in T. subcordiformis determines the rate of DMSP synthesis. 相似文献
26.
The distribution and sources of organochlorine pesticides (OCPs) in air and surface waters were monitored in Nairobi City using triolein-filled semipermeable membrane devices (SPMDs). The SPMDs were extracted by dialysis using n-hexane, followed by cleanup by adsorption chromatography on silica gel cartridges. Sample analysis was done by GC-ECD and confirmed by GC–MS. Separation of means was achieved by analysis of variance, followed by pair-wise comparison using the t-test (p≤ 0.05). The total OCPs ranged between 0.018 – 1.277 ng/m3 in the air and <LOD – 1391.000 ng/m3 in surface waters. Based on the results, the means of Industrial Area, Dandora and Kibera were not significantly different (p≤ 0.05), but were higher (p≤ 0.05) than those of City square and Ngong’ Forest. The results revealed non-significant (p≤ 0.05) contribution of long-range transport to OCP pollution in Nairobi City. This indicated possible presence of point sources of environmental OCPs in the city. The water-air fugacity ratios indicated that volatilization and deposition played an important role in the spatial distribution of OCPs in Nairobi City. This indicated that contaminated surface waters could be major sources of human exposure to OCPs, through volatilization. The incremental lifetime cancer risks (ILCR) determined from inhalation of atmospheric OCPs were 2.3745 × 10?13 – 1.6845 × 10?11 (adult) and 5.5404 × 10?13 – 3.9306 × 10?11 (child) in the order: Dandora > Kibera > Industrial Area > City Square > Ngong’ Forest. However, these were lower than the USEPA acceptable risks, 10?6 – 10?4. This study concluded that atmospheric OCPs did not pose significant cancer risks to the residents. 相似文献
27.
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29.
Chris J. Matthews David B. Newton Roger D. Braddock Bofu Yu 《Environmental Modeling and Assessment》2007,12(1):27-41
Recently, the New Morris Method has been presented as an effective sensitivity analysis tool for mathematical models. The
New Morris Method estimates the sensitivity of an output parameter to a given set of input parameters (first-order effects)
and the extent these parameters interact with each other (second-order effects). This method requires the specification of
two parameters (runs and resolution) that control the sampling of the output parameter to determine its sensitivity to various
inputs. The criteria for these parameters have been set on the analysis of a well-behaved analytical function (see Cropp and
Braddock, Reliab. Eng. Syst. Saf. 78:77–83, 2002), which may not be applicable to other physical models that describe complex
processes. This paper will investigate the appropriateness of the criteria from (Cropp and Braddock, 2002) and hence the effectiveness
of the New Morris Method to determine the sensitivity behaviour of two hydrologic models: the Soil Erosion and Deposition
System and Griffith University Representation of Urban Hydrology. In the first case, this paper will separately analyse the
sensitivity of an output parameter on a set of input parameters (first- and second-order effects) for each model and discuss
the physical meaning of these sensitivities. This will be followed by an investigation into the sampling criteria by exploring
the convergence of the sensitivity behaviour for each model as the sampling of the parameter space is increased. By comparing
these trends to the convergence behaviour from Cropp and Braddock (2002), we will determine how well the New Morris Method
estimates the sensitivity for each model and whether the sampling criteria are appropriate for these models. It will be shown
that the New Morris Method can provide additional insight into the functioning of these models, and that, under a different
metric, the sensitivity behaviour of these models does converge confirming the sampling criteria set by Cropp and Braddock. 相似文献
30.
Stoichev T Rodriguez Martin-Doimeadios RC Amouroux D Molenat N Donard OF 《Journal of environmental monitoring : JEM》2002,4(4):517-521
The concentration levels of mercury (Hg) species in natural water samples are usually low. Consequently, accurate analysis with low detection limits is still a major problem. In this work, a method was applied for the simultaneous direct determination of dissolved mercury species in water samples by on-line hydride generation (HG), cryogenic trapping (CT), gas chromatography (GC) and detection by atomic fluorescence spectrometry (AFS). The suitability of the method for real samples with different organic matter and chloride contents was evaluated by recovery experiments in synthetic and natural spiked water samples. The HG method was compared with other current available methods for mercury analysis with respect to the different fraction of mercury analysed, i.e. 'reactive', 'reducible' or total. HG derivatization and SnCl2 reduction (with and without previous oxidation with BrCl) were applied to synthetic and natural (spiked and non-spiked) water samples. The influence of chloride and dissolved organic matter concentrations was studied. The results suggest that the HG procedure is suitable for the simultaneous determination of Hg2+ and MeHg+ in surface water samples. Inorganic mercury analysed by HG (i.e. reducible) is close to the total inorganic mercury. 相似文献