目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容...目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容,眉毛浓密,鼻梁高,上唇薄,嘴角下斜。心脏超声提示动脉导管未闭,卵圆孔未闭。凝血及生化检测发现患儿凝血功能异常,低蛋白血症,胆红素升高。遗传代谢病串联质谱筛查未见明显异常;染色体非整倍体分析:染色体组成46,XY,染色体数目正常。家系全外显子组检测发现:患儿、弟弟及母亲均携带SMC1A基因c.897C>G变异,父亲为野生型。参考ACMG变异解读指南,该变异初步判定为可能致病变异。结论 双胞胎均携带SMC1A基因c.897C>G变异位点,该变异为新发变异,扩大了SMC1A基因变异谱,为临床诊断及患儿家系再生育指导提供了重要依据。展开更多
Introduction:Structural maintenance of chromosome 1A(SMC1A)is a crucial compound of the cohesin complex.It has been reported to regulate the epithelial-mesenchymal transition(EMT)process in multiple cancers.Objectives...Introduction:Structural maintenance of chromosome 1A(SMC1A)is a crucial compound of the cohesin complex.It has been reported to regulate the epithelial-mesenchymal transition(EMT)process in multiple cancers.Objectives:The present study aims to further clarify the role of SMC1A in cervical cancer.Methods:We analyzed data from four datasets and confirmed that SMC1A showed high expression in cervical cancer samples and was related to poor prognosis of patients with cervical cancer.Cell proliferation of SiHa and C-33A with knockdown of SMC1A was assessed using CCK-8 and colony formation assay.The migration and invasion were estimated by wound healing assay and Transwell assay separately.The effect of SMC1A on the chemosensitivity of cisplatin and paclitaxel in cervical cancer cells was detected by flow cytometry assay.Results:Results of the immunohistochemistry(IHC)assay confirmed that the expression of SMC1A was increased in tumor tissues.The cell viability was remarkably suppressed in SiHa and C-33A by knocking down the expression of SMC1A.The increase of E-cadherin expression and decrease of N-cadherin and Snail expression verified that inhibition of SMC1A suppressed the EMT process of cervical cancer cells.Further,cell migration,and invasion were significantly repressed by the absence of SMC1A.Cisplatin and paclitaxel are effective chemotherapeutic agents used in the treatment of cervical cancer.Silencing of SMC1A remarkably promoted the apoptosis induced by cisplatin and paclitaxel,revealing that the chemotherapy resistance to cisplatin and paclitaxel in cervical cancer could reduce by knocking down SMC1A.Further,metastasis associated with colon cancer 1(MACC1)was identified as the downstream factor of SMC1A.Its upregulation reversed the proliferation and the EMT process induced by SMC1A silencing.Conclusion:Therefore,our study concluded that SMC1A serves as a therapeutic molecular target to regulate the malignant phenotypes of cervical cancer.展开更多
Soft magnetic composite(SMC)material is an ideal soft magnetic material employed for developing 3D magnetic flux electromagnetic equipment,due to its advantages of 3D magnetic isotropy characteristic,low eddy current ...Soft magnetic composite(SMC)material is an ideal soft magnetic material employed for developing 3D magnetic flux electromagnetic equipment,due to its advantages of 3D magnetic isotropy characteristic,low eddy current loss,and simple manufacturing process.The permanent magnet claw pole machine(PMCPM)with SMC cores is a good case that the SMC to be adopted for developing 3D flux electrical machines.In this paper,a novel axial-radial flux permanent magnet claw pole machine(ARPMCPM)with SMC cores and ferrite magnets is proposed.Compared with the traditional PMCPM,the proposed ARPMCPM is designed with only one spoke PM rotor and its whole structure is quite compact.For the performance prediction,the 3D finite element method(FEM)is used.Meanwhile,for the performance evaluation,a previously developed axial flux claw pole permanent magnet machine(AFCPM)is employed as the benchmark machine and all these machines are optimized by using the combined multilevel robust Taguchi method.It can be seen that the proposed ARPMCPM is with higher torque/weight density and operation efficiency.展开更多
文摘目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容,眉毛浓密,鼻梁高,上唇薄,嘴角下斜。心脏超声提示动脉导管未闭,卵圆孔未闭。凝血及生化检测发现患儿凝血功能异常,低蛋白血症,胆红素升高。遗传代谢病串联质谱筛查未见明显异常;染色体非整倍体分析:染色体组成46,XY,染色体数目正常。家系全外显子组检测发现:患儿、弟弟及母亲均携带SMC1A基因c.897C>G变异,父亲为野生型。参考ACMG变异解读指南,该变异初步判定为可能致病变异。结论 双胞胎均携带SMC1A基因c.897C>G变异位点,该变异为新发变异,扩大了SMC1A基因变异谱,为临床诊断及患儿家系再生育指导提供了重要依据。
文摘Introduction:Structural maintenance of chromosome 1A(SMC1A)is a crucial compound of the cohesin complex.It has been reported to regulate the epithelial-mesenchymal transition(EMT)process in multiple cancers.Objectives:The present study aims to further clarify the role of SMC1A in cervical cancer.Methods:We analyzed data from four datasets and confirmed that SMC1A showed high expression in cervical cancer samples and was related to poor prognosis of patients with cervical cancer.Cell proliferation of SiHa and C-33A with knockdown of SMC1A was assessed using CCK-8 and colony formation assay.The migration and invasion were estimated by wound healing assay and Transwell assay separately.The effect of SMC1A on the chemosensitivity of cisplatin and paclitaxel in cervical cancer cells was detected by flow cytometry assay.Results:Results of the immunohistochemistry(IHC)assay confirmed that the expression of SMC1A was increased in tumor tissues.The cell viability was remarkably suppressed in SiHa and C-33A by knocking down the expression of SMC1A.The increase of E-cadherin expression and decrease of N-cadherin and Snail expression verified that inhibition of SMC1A suppressed the EMT process of cervical cancer cells.Further,cell migration,and invasion were significantly repressed by the absence of SMC1A.Cisplatin and paclitaxel are effective chemotherapeutic agents used in the treatment of cervical cancer.Silencing of SMC1A remarkably promoted the apoptosis induced by cisplatin and paclitaxel,revealing that the chemotherapy resistance to cisplatin and paclitaxel in cervical cancer could reduce by knocking down SMC1A.Further,metastasis associated with colon cancer 1(MACC1)was identified as the downstream factor of SMC1A.Its upregulation reversed the proliferation and the EMT process induced by SMC1A silencing.Conclusion:Therefore,our study concluded that SMC1A serves as a therapeutic molecular target to regulate the malignant phenotypes of cervical cancer.
基金supported by the National Natural Science Foundation of China under project 52007047in part by the Outstanding Youth Innovation Project funded by State Key Laboratory of Reliability and Intelligence of Electrical Equipment EERI_OY2021005,and EERI_KF2021014。
文摘Soft magnetic composite(SMC)material is an ideal soft magnetic material employed for developing 3D magnetic flux electromagnetic equipment,due to its advantages of 3D magnetic isotropy characteristic,low eddy current loss,and simple manufacturing process.The permanent magnet claw pole machine(PMCPM)with SMC cores is a good case that the SMC to be adopted for developing 3D flux electrical machines.In this paper,a novel axial-radial flux permanent magnet claw pole machine(ARPMCPM)with SMC cores and ferrite magnets is proposed.Compared with the traditional PMCPM,the proposed ARPMCPM is designed with only one spoke PM rotor and its whole structure is quite compact.For the performance prediction,the 3D finite element method(FEM)is used.Meanwhile,for the performance evaluation,a previously developed axial flux claw pole permanent magnet machine(AFCPM)is employed as the benchmark machine and all these machines are optimized by using the combined multilevel robust Taguchi method.It can be seen that the proposed ARPMCPM is with higher torque/weight density and operation efficiency.
