目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病...目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病。3例均以抽搐起病,经基因检测证实为KCNT 1基因新发错义变异,分别为c.862 G>A(p.Gly 288 Ser)、c.2813 A>G(p.Tyr 938 Cys)及c.1283 G>A(p.Arg 428 Gln)。1例患儿头颅磁共振示髓鞘化延迟,胼胝体膝部薄;2例视频脑电图示局灶性癫痫持续状态,其中1例伴高度失律。3例均予多种抗癫痫药物治疗,2例予激素治疗,发作仍不能有效控制,并出现运动发育落后。结论KCNT 1可能是EIMFS主要致病基因,导致癫痫起病年龄早,常合并发育迟缓,多种抗癫痫药物及激素治疗效果欠佳,预后差。展开更多
回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致E...回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致EIMFS的临床特点及基因特征。2例EIMFS患儿,均为男性,发作起病年龄为均在3个月内,2例均以游走性局灶性发作为主要发作类型,伴自主神经性发作。2例患儿均有频繁癫痫持续状态发生。视频脑电图特点:背景活动慢;发作间期主要表现为大量多灶性放电。头颅磁共振成像(magnetic resonance imaging,MRI)检查均伴异常。基因检测结果:1例为KCNT1基因c.862G>A(p.G288S)杂合突变,来源于母亲,1例为新发突变,c.1283G>A(p.R428Q);2例均应用多种抗癫痫药治疗,1例应用丙种球蛋白针治疗,效果欠佳。EIMFS起病年龄早,发作类型均以游走性局灶性发作为主;多种抗癫痫药物治疗效果差。视频脑电图特征为发作间期大量多灶性放电,发作期为游走性多灶性放电。遗传性因素为该病主要病因,基因检测可协助诊断及指导遗传咨询,KCNT1基因突变为该病热点突变之一。展开更多
In 2013 October, president Xi Jinping put forward China is willing to develop good marine partnership with ASEAN countries in twenty-first Century and will jointly build ＂marine silk road＂ on a visit to the ASEAN co...In 2013 October, president Xi Jinping put forward China is willing to develop good marine partnership with ASEAN countries in twenty-first Century and will jointly build ＂marine silk road＂ on a visit to the ASEAN countries. In the aspect of marine tourism, Guangxi and ASEAN cooperation has a solid foundation. This paper first gives the concept of the Marine Silk Road, and then analyzes the Guangxi and ASEAN tourism cooperation mechanism of the line, implementation steps and conditions under the 21 century Marine Silk Road strategy in order to provide reference for the related workers.展开更多
The main goal of this paper is to examine the economic relations of the Republic of Congo in its bilateral cooperation with China and to see its real implications in the Congolese economy. In other words, this paper i...The main goal of this paper is to examine the economic relations of the Republic of Congo in its bilateral cooperation with China and to see its real implications in the Congolese economy. In other words, this paper is going to highlight the real status of the Republic of Congo in the recent intensification of cooperation with the Middle Kingdom. Indeed, China has always been criticized as a predator of African raw materials by its opponents （traditional partners of Africa）. Thus, in the Congolese context, the authors try to analyze and see whether this cooperation has corroborated that anti-thesis or not. After examining various facets of Chinese interventions in Congo, the authors conclude that： The cooperation between these two countries is a kind of cooperation for the modernization and industrialization of the Congo, which is now developing in a satisfactory way. It brings real benefits to people of both countries, and it is also welcomed by both of them. Congo and China are bound by a traditional friendship, they have cooperated with each other since 1964, and both countries must be determined to further strengthen this cooperation to achieve a common development. It should also be noted that China is first and foremost a strategic partner of development for the Congo because of the positive results recorded by its actions in different areas of its operations in that country. The authors have also noted some pitfalls and have made some suggestions accordingly, in order to enhance the performance of cooperation between the two countries. It is particularly in terms of the transfer of technology, compliance with the regulations in force in Congo by Chinese enterprises, the adjustments made by China concerning the training of Congolese students who receive scholarships from the Chinese government for their training in China and on Chinese language, and finally the area of diversification of production, it is worth pointing out that the Congo only exports its main raw materials to China, such as oil and wood, and moreover, those materials are exported in the raw state, thus reducing the incentives of diversification of its domestic production. The data used in this article cover the periods from 1995 to 2005, which are inadequate for this work, given the momentum taken by the development of cooperation between the two countries. Then, for future researchers, they have to refine the work concerning the next state of Sino-African cooperation.展开更多
文摘目的探讨K C N T 1基因变异相关婴儿癫痫伴游走性局灶性发作(EIMFS)的临床特征及基因变异特点。方法回顾分析3例K C N T 1基因变异相关EIMFS患儿的临床资料,并复习相关文献。结果2例女性患儿分别于3、6月龄起病,1例男性患儿于2月龄起病。3例均以抽搐起病,经基因检测证实为KCNT 1基因新发错义变异,分别为c.862 G>A(p.Gly 288 Ser)、c.2813 A>G(p.Tyr 938 Cys)及c.1283 G>A(p.Arg 428 Gln)。1例患儿头颅磁共振示髓鞘化延迟,胼胝体膝部薄;2例视频脑电图示局灶性癫痫持续状态,其中1例伴高度失律。3例均予多种抗癫痫药物治疗,2例予激素治疗,发作仍不能有效控制,并出现运动发育落后。结论KCNT 1可能是EIMFS主要致病基因,导致癫痫起病年龄早,常合并发育迟缓,多种抗癫痫药物及激素治疗效果欠佳,预后差。
文摘回顾性分析2例婴儿癫痫伴游走性局灶性发作(epilepsy of infancy with migrating focal seizures,EIMFS)患儿,分析其临床、头颅影像学及视频脑电图特点,采用二代测序癫痫基因检测包分析EIMFS的基因突变筛查结果,总结2例KCNT1基因突变致EIMFS的临床特点及基因特征。2例EIMFS患儿,均为男性,发作起病年龄为均在3个月内,2例均以游走性局灶性发作为主要发作类型,伴自主神经性发作。2例患儿均有频繁癫痫持续状态发生。视频脑电图特点:背景活动慢;发作间期主要表现为大量多灶性放电。头颅磁共振成像(magnetic resonance imaging,MRI)检查均伴异常。基因检测结果:1例为KCNT1基因c.862G>A(p.G288S)杂合突变,来源于母亲,1例为新发突变,c.1283G>A(p.R428Q);2例均应用多种抗癫痫药治疗,1例应用丙种球蛋白针治疗,效果欠佳。EIMFS起病年龄早,发作类型均以游走性局灶性发作为主;多种抗癫痫药物治疗效果差。视频脑电图特征为发作间期大量多灶性放电,发作期为游走性多灶性放电。遗传性因素为该病主要病因,基因检测可协助诊断及指导遗传咨询,KCNT1基因突变为该病热点突变之一。
文摘In 2013 October, president Xi Jinping put forward China is willing to develop good marine partnership with ASEAN countries in twenty-first Century and will jointly build ＂marine silk road＂ on a visit to the ASEAN countries. In the aspect of marine tourism, Guangxi and ASEAN cooperation has a solid foundation. This paper first gives the concept of the Marine Silk Road, and then analyzes the Guangxi and ASEAN tourism cooperation mechanism of the line, implementation steps and conditions under the 21 century Marine Silk Road strategy in order to provide reference for the related workers.
文摘The main goal of this paper is to examine the economic relations of the Republic of Congo in its bilateral cooperation with China and to see its real implications in the Congolese economy. In other words, this paper is going to highlight the real status of the Republic of Congo in the recent intensification of cooperation with the Middle Kingdom. Indeed, China has always been criticized as a predator of African raw materials by its opponents （traditional partners of Africa）. Thus, in the Congolese context, the authors try to analyze and see whether this cooperation has corroborated that anti-thesis or not. After examining various facets of Chinese interventions in Congo, the authors conclude that： The cooperation between these two countries is a kind of cooperation for the modernization and industrialization of the Congo, which is now developing in a satisfactory way. It brings real benefits to people of both countries, and it is also welcomed by both of them. Congo and China are bound by a traditional friendship, they have cooperated with each other since 1964, and both countries must be determined to further strengthen this cooperation to achieve a common development. It should also be noted that China is first and foremost a strategic partner of development for the Congo because of the positive results recorded by its actions in different areas of its operations in that country. The authors have also noted some pitfalls and have made some suggestions accordingly, in order to enhance the performance of cooperation between the two countries. It is particularly in terms of the transfer of technology, compliance with the regulations in force in Congo by Chinese enterprises, the adjustments made by China concerning the training of Congolese students who receive scholarships from the Chinese government for their training in China and on Chinese language, and finally the area of diversification of production, it is worth pointing out that the Congo only exports its main raw materials to China, such as oil and wood, and moreover, those materials are exported in the raw state, thus reducing the incentives of diversification of its domestic production. The data used in this article cover the periods from 1995 to 2005, which are inadequate for this work, given the momentum taken by the development of cooperation between the two countries. Then, for future researchers, they have to refine the work concerning the next state of Sino-African cooperation.
