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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.
25.
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
26.
27.
Zhang Yuqing Zhan Chengcheng Wang Hui Gao Ya 《Environment, Development and Sustainability》2022,24(8):9777-9808
Environment, Development and Sustainability - This study analyzes the evolution of the land use structure, demographic reconstruction, and social reconstruction of Dachangshan Island, Changhai... 相似文献
28.
Puška Adis Stević Željko Pamučar Dragan 《Environment, Development and Sustainability》2022,24(9):11195-11225
Environment, Development and Sustainability - Disposal of healthcare waste is a key issue of environmental sustainability in the world. The amount of healthcare waste is increasing every day, and... 相似文献
29.
30.
以化学挂膜成熟运行5a的铁锰复合氧化物滤料为研究对象,利用静态与连续流柱实验相结合的方式,探究了该滤料去除四环素的效果与机理.结果表明,去除过程符合准二级反应动力学模型;且滤料质量越大,初始浓度越高,对四环素去除的效果越好;当水中共存阳离子浓度为0.01mol/L时,Mg2+抑制四环素的去除,而Ca2+、K+对四环素的去除过程无显著影响.连续流柱实验与发光细菌毒性检测分析,表明,铁锰氧化物滤料对四环素去除效果显著高于石英砂,且铁锰复合氧化物滤料去除四环素后急性毒性降低.此外,机理探究实验结果证实了铁锰复合氧化物滤料去除四环素是吸附与氧化的过程. 相似文献