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| 1 | Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6显示文摘Background Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neurodegenerative disorders. This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features.Methods Using a molecular approach, we investigated SCA in 120 mainland Chinese families with dominantly inherited ataxias and in 60 mainland Chinese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families. Results SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2[8(6.7%)], SCA1[7(5.8%)], SCA6[4(3.3%)], SCA7[1(0.8%)], SCA8(0%), SCA10(0%), SCA12(0%), SCA14(0%), SCA17(0%) and DRPLA(0%). The genes responsible for 41 (34.2%) of dominantly inherited SCA families remain to be determined. Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) was found to harbor SCA3 mutations while none was found to harbor SCA6 mutations. In the 4 families with SCA6, significant anticipation was found in the absence of genetic instability on transmission.Conclusion A geographic cluster of families with SCA6 subtype was initially identified in a mainland Chinese population. | JIANGHong TANGBei-sha XUBo ZHAOGuo-hua SHENLu TANGJian-guang LIQing-hua XIAKun | 2005 | Chinese Medical Journal2005，，10： | 12 |
| 2 | Analysis on the influencing factors of mechanical characteristics of jointless turnout group in ballasted track of high-speed railway显示文摘Turnouts are in close proximity to each other in the stations of high-speed railway.The stress and deformation of those turnouts which are laid nearby are influenced mutually and therefore those turnouts should be considered together.On the basis of finite element method,according to No.18 jointless turnout with swing nose frog in the ballasted track of high-speed railway,a finite element calculating model of jointless turnout group coupling the longitudinal,lateral and vertical directions is established.The influencing factors,for instance the number of turnouts,connection form,length of intermediate straight line and ballast bed longitudinal resistance,on the mechanical characteristics of turnout,transverse deformation of switch rail and range of rail temperature for laying turnout are analyzed in this paper.The results show that more turnouts result in more obvious interaction between them when the lengths of intermediate straight line are the same;more significant influence between the turnouts with the connection form of head-to-head is produced compared to that of head-to-end;from the perspective of statics,influence between turnouts could be ignored basically if the intermediate straight line is over 50 m;bigger longitudinal resistance of ballast bed leads to less influence between the turnouts. | GAO Liang QU Cun QIAO ShenLu CAI XiaoPei LIU Wei | 2013 | Science China(Technological Sciences)2013，56，2： | 10 |
| 3 | The emerging epidemic of estrogen‐related cancers in young women in a developing Asian country显示文摘 | Ching‐HungLin Yong‐ChenChen Chun‐JuChiang Yen‐ShenLu Kuan‐TingKuo Chiun‐ShengHuang Wen‐FangCheng Mei‐ShuLai San‐LinYou Ann‐LiiCheng | 2012 | Int J Cancer2012，，11： | 1 |
| 4 | Influence of span-to-depth ratio on dynamic response of vehicle-turnoutbridge system in high-speed railway显示文摘For high-speed railways,the smoothness of the railway line significantly affects the operational speed of trains.When the train passes through the turnout on a long-span bridge,the wheel-rail impacts caused by the turnout structure irregularities,and the instability arising from the bridge's flexural deformation lead to a strong coupling effect in the vehicle-turnout-bridge system.This significantly affects both ride comfort and operational safety.For addressing this issue,the present study considered a long-span continuous rigid-frame bridge as an example and established a train-turnout-bridge coupled dynamic model of high-speed railway.Utilizing a selfdeveloped dynamic simulation program,the study analysed the dynamic response characteristics when the train passes through the turnouts on the bridge.It also investigated the influence of different span-to-depth ratios of the bridge on the vehicle dynamic response when the train passes through the main line and branch line of turnouts and then proposed a span-to-depth ratio limit value for a long-span continuous rigid-frame bridge.The research findings suggest that the changes in the span-to-depth ratio have a relatively minor impact on the train’s operational performance but significantly affect the dynamic characteristics of the bridge structure.Based on the findings and a comprehensive assessment of safety indicators,it is advisable to establish a span-to-depth ratio limit of 1/4500 for a long-span continuous rigid-frame bridge. | Chuanqing Dai Tao Xin Shenlu Qiao Yanan Zhang Pengsong Wang Mahantesh M.Nadakatti | 2024 | High-Speed Railway2024，2，1： | 0 |
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