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一例以多发性骨破坏为显著特征的老年戈谢病的诊疗和基因检测分析
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作者 秦姝超 尹华 +3 位作者 王蓉 朱飞鹏 李建勇 卢瑞南 《遗传》 CAS CSCD 北大核心 2023年第3期261-269,共9页
戈谢病(Gaucher’s disease)是一种罕见的常染色体隐性遗传病,由于葡萄糖脑苷脂酶(glucocerebrosidase,GBA)基因突变导致溶酶体中GBA活性降低或缺乏,造成其底物葡萄糖脑苷脂在溶酶体中贮积,产生肝、脾、肾、骨、造血系统甚至神经系统受... 戈谢病(Gaucher’s disease)是一种罕见的常染色体隐性遗传病,由于葡萄糖脑苷脂酶(glucocerebrosidase,GBA)基因突变导致溶酶体中GBA活性降低或缺乏,造成其底物葡萄糖脑苷脂在溶酶体中贮积,产生肝、脾、肾、骨、造血系统甚至神经系统受累的临床表现。本文报道1例以多发性骨破坏为显著特征的老年患者,伴有幼年脾切除及“骨髓炎”病史,呈现肝脏显著增大、贫血、血小板减少及骨量减少等症状。临床检测显示,患者外周血GBA活性降低、葡糖鞘氨醇水平以及壳三糖酶活性显著升高;基因检测结果表明,患者GBA基因发生纯合错义突变NM_001005741.2 c.770A>G(p.Asp257Gly)。经过6个月的酶替代治疗,患者血小板恢复正常、贫血改善、肝脏体积有所缩小。进一步检测发现患者母亲、长兄、次兄均存在该位点的杂合突变,符合孟德尔遗传规律。虽然患者Asp257Gly变异在已知的GBA基因变异库中未被报道,但无论是临床表现还是酶学及生物标记物特征,以及酶替代治疗的效果,均支持戈谢病的诊断,推断患者Asp257Gly纯合变异为临床致病性变异。本病例发现的新突变位点丰富了GBA基因的遗传变异数据库,同时本病例的诊治过程也为该类患者的早期识别并诊断以及尽早治疗提供了借鉴与参考。 展开更多
关键词 戈谢病 多发骨破坏 老年 葡萄糖脑苷脂酶基因
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Crack identification in concrete, using digital image correlation and neural network
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作者 Jingyi WANG Dong LEI +3 位作者 Kaiyang ZHOU Jintao HE feipeng zhu Pengxiang BAI 《Frontiers of Structural and Civil Engineering》 SCIE EI CSCD 2024年第4期536-550,共15页
In engineering applications,concrete crack monitoring is very important.Traditional methods are of low efficiency,low accuracy,have poor timeliness,and are applicable in only a limited number of scenarios.Therefore,mo... In engineering applications,concrete crack monitoring is very important.Traditional methods are of low efficiency,low accuracy,have poor timeliness,and are applicable in only a limited number of scenarios.Therefore,more comprehensive detection of concrete damage under different scenarios is of high value for practical engineering applications.Digital image correlation(DIC)technology can provide a large amount of experimental data,and neural network(NN)can process very rich data.Therefore,NN,including convolutional neural networks(CNN)and back propagation neural networks(BP),can be combined with DIC technology to analyze experimental data of three-point bending of plain concrete and four-point bending of reinforced concrete.In addition,strain parameters can be used for training,and displacement parameters can be added for comprehensive consideration.The data obtained by DIC technology are grouped for training,and the recognition results of NN show that the combination of strain and displacement parameters,i.e.,the response of specimen surface and whole body,can make results more objective and comprehensive.The identification results obtained by CNN and BP show that these technologies can accurately identify cracks.The identification results for reinforced concrete specimens are less affected by noise than those of plain concrete specimens.CNN is more convenient because it can identify some features directly from images,recognizing the cracks formed by macro development.BP can issue early warning of the microscopic cracks,but it requires a large amount of data and computation.It can be seen that CNN is more intuitive and efficient in image processing,and is suitable when low accuracy is adequate,while BP is suitable for occasions with greater accuracy requirements.The two tools have advantages in different situations,and together they can play an important role in engineering monitoring. 展开更多
关键词 digital image correlation convolutional neural network back propagation neural neural network damage detection CONCRETE
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