目的:对2例生长发育迟缓伴有特殊面容及肢体发育异常的患儿进行基因检测,实现罕见病的精准诊断,为遗传咨询提供指导。方法:应用单基因检测及全外显子组高通量测序技术对临床疑似CdLS患儿进行致病基因突变筛查,并行一代测序验证以及患儿...目的:对2例生长发育迟缓伴有特殊面容及肢体发育异常的患儿进行基因检测,实现罕见病的精准诊断,为遗传咨询提供指导。方法:应用单基因检测及全外显子组高通量测序技术对临床疑似CdLS患儿进行致病基因突变筛查,并行一代测序验证以及患儿父母的验证。结果:本研究中的2例患儿均检测到国内外尚未报道的NIPBL基因突变,c.2252 dupA、p.Asn751Lysfs以及NM-015384.4:c.6179dupA,父母均无携带,为新生变异。结论:对于发育迟缓伴特殊面容及肢体异常的患儿要考虑到Cornelia de Lang综合征可能,采用基因检测手段实现精准诊断,为患者及家属遗传咨询提供依据。展开更多
In order to compensate for the deficiency of present methods of monitoring plane displacement in similarity model tests,such as inadequate real-time monitoring and more manual intervention,an effective monitoring meth...In order to compensate for the deficiency of present methods of monitoring plane displacement in similarity model tests,such as inadequate real-time monitoring and more manual intervention,an effective monitoring method was proposed in this study,and the major steps of the monitoring method include:firstly,time-series images of the similarity model in the test were obtained by a camera,and secondly,measuring points marked as artificial targets were automatically tracked and recognized from time-series images.Finally,the real-time plane displacement field was calculated by the fixed magnification between objects and images under the specific conditions.And then the application device of the method was designed and tested.At the same time,a sub-pixel location method and a distortion error model were used to improve the measuring accuracy.The results indicate that this method may record the entire test,especially the detailed non-uniform deformation and sudden deformation.Compared with traditional methods this method has a number of advantages,such as greater measurement accuracy and reliability,less manual intervention,higher automation,strong practical properties,much more measurement information and so on.展开更多
Fracability characterizes the effectiveness of hydraulic fracturing.The existing assessment methods cannot reflect the actual value of the effectiveness due to a lack of comprehensive consideration and neglect of the ...Fracability characterizes the effectiveness of hydraulic fracturing.The existing assessment methods cannot reflect the actual value of the effectiveness due to a lack of comprehensive consideration and neglect of the influences of engineering factors.This study aims to solve this problem by implementing geological static data and production dynamic data in multivariate analysis in Zhaotong shale gas demonstration zone.First,the reservoir quality index(RQI)was introduced to evaluate the exploration potential by integrating the geological parameters with gray relational analysis.Moreover,the differences in fracturing fluid types and proppant sizes were considered,and the operating parameters were normalized on the basis of the equivalence principle.Finally,the general reservoir fracability index(GRFI)was proposed based on a dimensioned processing of the various parameters.A case study was conducted to verify the accuracy and feasibility of this new approach.The results demonstrate that(1)the organic carbon and gas content are adjusted to contribute the most to the calculation of the RQI,while the effective porosity contributes the least;(2)the fracturing scale is the main operating parameter determining the fracability,which has the strongest correlation with the effectiveness of fracking;and(3)the GRFI has a positive correlation with shale gas production,and the lower limit of the GRFI of 2,000 corresponds to a daily production of 50,000 m3/d;this value is defined as the threshold value of a stripper well.The GRFI is consistent with the productivity trend of shale gas wells in the research block,which suggests that the new model is accurate and practical for well candidate selection.展开更多
文摘目的:对2例生长发育迟缓伴有特殊面容及肢体发育异常的患儿进行基因检测,实现罕见病的精准诊断,为遗传咨询提供指导。方法:应用单基因检测及全外显子组高通量测序技术对临床疑似CdLS患儿进行致病基因突变筛查,并行一代测序验证以及患儿父母的验证。结果:本研究中的2例患儿均检测到国内外尚未报道的NIPBL基因突变,c.2252 dupA、p.Asn751Lysfs以及NM-015384.4:c.6179dupA,父母均无携带,为新生变异。结论:对于发育迟缓伴特殊面容及肢体异常的患儿要考虑到Cornelia de Lang综合征可能,采用基因检测手段实现精准诊断,为患者及家属遗传咨询提供依据。
基金provided by the Program for New Century Excellent Talents in University (No. NCET-06-0477)the Independent Research Project of the State Key Laboratory of Coal Resources and Mine Safety of China University of Mining and Technology (No. SKLCRSM09X01)the Fundamental Research Funds for the Central Universities
文摘In order to compensate for the deficiency of present methods of monitoring plane displacement in similarity model tests,such as inadequate real-time monitoring and more manual intervention,an effective monitoring method was proposed in this study,and the major steps of the monitoring method include:firstly,time-series images of the similarity model in the test were obtained by a camera,and secondly,measuring points marked as artificial targets were automatically tracked and recognized from time-series images.Finally,the real-time plane displacement field was calculated by the fixed magnification between objects and images under the specific conditions.And then the application device of the method was designed and tested.At the same time,a sub-pixel location method and a distortion error model were used to improve the measuring accuracy.The results indicate that this method may record the entire test,especially the detailed non-uniform deformation and sudden deformation.Compared with traditional methods this method has a number of advantages,such as greater measurement accuracy and reliability,less manual intervention,higher automation,strong practical properties,much more measurement information and so on.
基金funded by the Research Project of the Hubei Provincial Department of Education under grant no.Q20181307the Project of Shandong Provincial Key Laboratory of Depositional Mineralization&Sedimentary Mineral under grant no.DMSM2019001+2 种基金the Project of the Key Laboratory of Well Stability and Fluid&Rock Mechanics in Oil and Gas Reservoir of Shaanxi Province,Xi’an Shiyou University under grant no.WSFRM20190302001the National Natural Science Foundation of China under grant no.51574039the National Science and Technology Major Project under grant no.2016ZX05061-009
文摘Fracability characterizes the effectiveness of hydraulic fracturing.The existing assessment methods cannot reflect the actual value of the effectiveness due to a lack of comprehensive consideration and neglect of the influences of engineering factors.This study aims to solve this problem by implementing geological static data and production dynamic data in multivariate analysis in Zhaotong shale gas demonstration zone.First,the reservoir quality index(RQI)was introduced to evaluate the exploration potential by integrating the geological parameters with gray relational analysis.Moreover,the differences in fracturing fluid types and proppant sizes were considered,and the operating parameters were normalized on the basis of the equivalence principle.Finally,the general reservoir fracability index(GRFI)was proposed based on a dimensioned processing of the various parameters.A case study was conducted to verify the accuracy and feasibility of this new approach.The results demonstrate that(1)the organic carbon and gas content are adjusted to contribute the most to the calculation of the RQI,while the effective porosity contributes the least;(2)the fracturing scale is the main operating parameter determining the fracability,which has the strongest correlation with the effectiveness of fracking;and(3)the GRFI has a positive correlation with shale gas production,and the lower limit of the GRFI of 2,000 corresponds to a daily production of 50,000 m3/d;this value is defined as the threshold value of a stripper well.The GRFI is consistent with the productivity trend of shale gas wells in the research block,which suggests that the new model is accurate and practical for well candidate selection.
