报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临...报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临床诊治提供借鉴。患儿为14岁女童,以精神行为异常起病,表现为少言少语,基因检测提示VAMP2基因的3号外显子c.166C>T(p.Arg56Ter)杂合突变。对国外同类报告中12例患者资料回顾后发现,该病多在婴幼儿时期发病,男性多于女性,临床预后不佳,4-氨基吡啶可能为此病潜在性治疗药物,可改善患者症状。展开更多
The knitting industry CAD/CAM system's development needs a solution of computer representation of the designed objects.One of them is a transformation of knitting rows and stitches form knitting pattern and its au...The knitting industry CAD/CAM system's development needs a solution of computer representation of the designed objects.One of them is a transformation of knitting rows and stitches form knitting pattern and its automatic analysis is to control data from the knitting design data.A method of the pattern CAD system including the analyzing and the compiling of the pattern data was developed in this paper.By rasterizing the pattern map,the drafted pattern could be compiled into knitting row data and stitches.The storage format of knitting rows data and stitches data could be defined by analyzing the motion of computerized fiat knitting machine.By reassembling the control data,it could be analyzed into the execute data of the controller in computerized flat knitting machine.This method mainly focused on the weak areas of multi-needle-bed technology and fully-fashioned knitting technology in inland and could be applied to most of control systems in the master-slave mode.The knitting row data and pattern row data in a " *.ptn" format file were integrated.Giving a corresponding analytic calculation process of control data and realizing independent development of the upper machine and the lower machine,the final knitting control data not only have low computation and transmission cost but also have fast transfer speeds.展开更多
文摘报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临床诊治提供借鉴。患儿为14岁女童,以精神行为异常起病,表现为少言少语,基因检测提示VAMP2基因的3号外显子c.166C>T(p.Arg56Ter)杂合突变。对国外同类报告中12例患者资料回顾后发现,该病多在婴幼儿时期发病,男性多于女性,临床预后不佳,4-氨基吡啶可能为此病潜在性治疗药物,可改善患者症状。
基金National Natureal Science Foundation of China(No.51305076)
文摘The knitting industry CAD/CAM system's development needs a solution of computer representation of the designed objects.One of them is a transformation of knitting rows and stitches form knitting pattern and its automatic analysis is to control data from the knitting design data.A method of the pattern CAD system including the analyzing and the compiling of the pattern data was developed in this paper.By rasterizing the pattern map,the drafted pattern could be compiled into knitting row data and stitches.The storage format of knitting rows data and stitches data could be defined by analyzing the motion of computerized fiat knitting machine.By reassembling the control data,it could be analyzed into the execute data of the controller in computerized flat knitting machine.This method mainly focused on the weak areas of multi-needle-bed technology and fully-fashioned knitting technology in inland and could be applied to most of control systems in the master-slave mode.The knitting row data and pattern row data in a " *.ptn" format file were integrated.Giving a corresponding analytic calculation process of control data and realizing independent development of the upper machine and the lower machine,the final knitting control data not only have low computation and transmission cost but also have fast transfer speeds.
