目的分析GLIALCAM突变伴皮层下囊肿的巨脑性白质脑病(megalencephalic leukoencephalopathy with subcortical cysts,MLC)患儿临床遗传学及头颅影像学特征,为准确的遗传咨询和产前诊断打下基础。方法收集6例MLC先证者及家系临床资料,评...目的分析GLIALCAM突变伴皮层下囊肿的巨脑性白质脑病(megalencephalic leukoencephalopathy with subcortical cysts,MLC)患儿临床遗传学及头颅影像学特征,为准确的遗传咨询和产前诊断打下基础。方法收集6例MLC先证者及家系临床资料,评估患儿头颅MRI,靶向捕获二代测序行GLIALCAM突变检测,分析影像学特征与基因型关系。结果患儿多具有巨颅及典型MLC头颅MRI改变,伴智力运动发育迟缓、倒退及孤独症样行为,临床诊断MLC。6例患儿发现4个错义突变,c.274C>T(p.Arg92Trp),c.275G>C(p.Arg92Pro),c.203A>T(p.Lys68Met)和c.395C>A(p.Thr132Asn),其中c.275G>C(p.Arg92Pro)为未报道新突变,5例患儿为杂合突变,1例患儿复合杂合突变,Pt2-Pt5突变遗传自母亲,Pt6遗传自表型正常的父母。5例患儿均出现大脑皮层下白质弥漫性异常信号伴肿胀,1例患儿出现好转。结论GLIALCAM突变MLC患者多具有巨颅和典型头颅MRI表现,GLIALCAM突变显性遗传患者头颅MRI具有异质性,部分患儿头颅MRI可恢复正常。发现了c.275G>C(p.Arg92Pro)新突变,扩展了GLIALCAM突变谱,为准确的遗传咨询和产前诊断提供了依据。展开更多
Cruise observations with CTD （conductivity-temperature-depth） profiler were carried out in the southern Taiwan Strait in the summer of 2005. Using the cruise data, two-dimensional maps of salinity and temperature di...Cruise observations with CTD （conductivity-temperature-depth） profiler were carried out in the southern Taiwan Strait in the summer of 2005. Using the cruise data, two-dimensional maps of salinity and temperature distributions at depths of 5, 10, 15, 20, and 30 m were generated. The maps show a low salinity tongue sandwiched by low temperature and high salinity waters on the shallow water side and high temperature and high salinity waters on the deep water side. The further analysis indicates that the low salinity water has a nature of river-diluted water. A possible source of the diluted water is the Zhujiang （Pearl） Estuary. Meanwhile, the summer monsoon is judged as a possible driving force for this northeastward jet-like current. The coastal upwelling and the South China Sea Warm Current confine the low salinity water to flow along the central line of the strait. Previous investigations and a numerical model are used to verify that the upstream of the low salinity current is the Zhujiang Estuary. Thus, the low salinity tongue is produced by four major elements： Zhujinag Estuary diluted water, monsoon wind driving, coastal upwelling and South China Sea Warm Current modifications.展开更多
Recently, there has been growing concerns about environmental issues related to urbanization in China. The intense natural resources utilization and increasing population has brought great pressure, especially in coas...Recently, there has been growing concerns about environmental issues related to urbanization in China. The intense natural resources utilization and increasing population has brought great pressure, especially in coastal areas, consequently affecting the sustainable development of coastal cities. In 2002, Environmental Impact Assessment Act (EIA Act) was enacted in China. Environmental impact assessment targeted at planning, one level of strategic environmental assessment (SEA), thus became a legislative requirement. This paper considers SEA to be one of the important approaches not only to control coastal pollution, but also to conserve coastal ecosystems and finally to achieve sustainable development during urbanization, thus it will be a set an example for other areas of China. The experience of SEA in Xiamen, a coastal city in southeast China, illustrates the potentials of SEA. This paper first briefly introduces the concept and potentials of SEA, then compares two SEA cases and a project EIA case in Xiamen, and finally identifies the key characteristics of SEA.展开更多
文摘目的分析GLIALCAM突变伴皮层下囊肿的巨脑性白质脑病(megalencephalic leukoencephalopathy with subcortical cysts,MLC)患儿临床遗传学及头颅影像学特征,为准确的遗传咨询和产前诊断打下基础。方法收集6例MLC先证者及家系临床资料,评估患儿头颅MRI,靶向捕获二代测序行GLIALCAM突变检测,分析影像学特征与基因型关系。结果患儿多具有巨颅及典型MLC头颅MRI改变,伴智力运动发育迟缓、倒退及孤独症样行为,临床诊断MLC。6例患儿发现4个错义突变,c.274C>T(p.Arg92Trp),c.275G>C(p.Arg92Pro),c.203A>T(p.Lys68Met)和c.395C>A(p.Thr132Asn),其中c.275G>C(p.Arg92Pro)为未报道新突变,5例患儿为杂合突变,1例患儿复合杂合突变,Pt2-Pt5突变遗传自母亲,Pt6遗传自表型正常的父母。5例患儿均出现大脑皮层下白质弥漫性异常信号伴肿胀,1例患儿出现好转。结论GLIALCAM突变MLC患者多具有巨颅和典型头颅MRI表现,GLIALCAM突变显性遗传患者头颅MRI具有异质性,部分患儿头颅MRI可恢复正常。发现了c.275G>C(p.Arg92Pro)新突变,扩展了GLIALCAM突变谱,为准确的遗传咨询和产前诊断提供了依据。
基金supported by the National Natural Science Foundation of China under contract Nos 40331004,40576015, 40810069004 and 40821063the MEL Open Project MEL0506+1 种基金partially supported by the ONR through grants N00014-05-1-0328 and N00014-05-1-0606the NSF through Grant 071003-9222 (for Zheng, any opinions, findings, and conclusions or recommendations expressed in this paper are those of the authors and do not necessarily reflect the views of the NSF)
文摘Cruise observations with CTD （conductivity-temperature-depth） profiler were carried out in the southern Taiwan Strait in the summer of 2005. Using the cruise data, two-dimensional maps of salinity and temperature distributions at depths of 5, 10, 15, 20, and 30 m were generated. The maps show a low salinity tongue sandwiched by low temperature and high salinity waters on the shallow water side and high temperature and high salinity waters on the deep water side. The further analysis indicates that the low salinity water has a nature of river-diluted water. A possible source of the diluted water is the Zhujiang （Pearl） Estuary. Meanwhile, the summer monsoon is judged as a possible driving force for this northeastward jet-like current. The coastal upwelling and the South China Sea Warm Current confine the low salinity water to flow along the central line of the strait. Previous investigations and a numerical model are used to verify that the upstream of the low salinity current is the Zhujiang Estuary. Thus, the low salinity tongue is produced by four major elements： Zhujinag Estuary diluted water, monsoon wind driving, coastal upwelling and South China Sea Warm Current modifications.
文摘Recently, there has been growing concerns about environmental issues related to urbanization in China. The intense natural resources utilization and increasing population has brought great pressure, especially in coastal areas, consequently affecting the sustainable development of coastal cities. In 2002, Environmental Impact Assessment Act (EIA Act) was enacted in China. Environmental impact assessment targeted at planning, one level of strategic environmental assessment (SEA), thus became a legislative requirement. This paper considers SEA to be one of the important approaches not only to control coastal pollution, but also to conserve coastal ecosystems and finally to achieve sustainable development during urbanization, thus it will be a set an example for other areas of China. The experience of SEA in Xiamen, a coastal city in southeast China, illustrates the potentials of SEA. This paper first briefly introduces the concept and potentials of SEA, then compares two SEA cases and a project EIA case in Xiamen, and finally identifies the key characteristics of SEA.
