目的:评估全新国产测序平台——GenoLab M DX基因测序仪在临床检测中的应用价值。方法:收集2021~2023年于我中心行辅助生殖技术助孕的患者的3位亚显微染色体拷贝数异常患者的4个染色体异常胚胎和数个IVF周期的132枚早期发育阻滞的胚胎...目的:评估全新国产测序平台——GenoLab M DX基因测序仪在临床检测中的应用价值。方法:收集2021~2023年于我中心行辅助生殖技术助孕的患者的3位亚显微染色体拷贝数异常患者的4个染色体异常胚胎和数个IVF周期的132枚早期发育阻滞的胚胎、20个外周血样本及1个流产样本投入国产测序平台GenoLab M DX进行染色体测序,验证此平台对于CNV的有效测定。结果:4个废弃胚胎均基本上检测到预期的2~3 M的小CNV;早期发育阻滞的胚胎中成功检测127枚,染色体异常率为74.8% (95/127),32枚胚胎染色体正常;部分外周血样本中也检测出了染色体核型异常存在。结论:GenoLab M DX基因测序仪对样本进行染色体非整倍体检测,展现出超高的准确性和时效性,实现低成本前提下的高临床应用价值。Objective: To evaluate the application value of the novel domestic sequencing platform, the GenoLab M DX gene sequencer, in clinical testing. Methods: From 2021 to 2023, a total of 4 chromosomally abnormal embryos (with submicroscopic copy number variations [CNVs]) from 3 patients undergoing assisted reproductive technology (ART) at our center, 132 early development-arrested embryos from several IVF cycles, 20 peripheral blood samples, and 1 miscarriage sample were subjected to chromosomal sequencing using the domestic GenoLab M DX sequencing platform. The platform’s effectiveness in detecting CNVs was validated. Results: All four discarded embryos were essentially detected with the expected small CNVs (2~3 Mb). Among the 132 early development-arrested embryos, 127 were successfully sequenced, with a chromosomal abnormality rate of 74.8% (95/127). Thirty-two embryos were found to be chromosomally normal. Chromosomal karyotype abnormalities were also detected in some peripheral blood samples. Conclusion: The GenoLab M DX gene sequencer demonstrated ultra-high accuracy and timeliness in detecting chromosomal aneuploidy in samples, achieving high clinical application value at a low cost.展开更多
Recirculation is expected to be identified for its possibility to dramatically decrease the efficiency of planetary gear trains(PGTs).However,it exhibits an unexplained connection with the structure,making it challeng...Recirculation is expected to be identified for its possibility to dramatically decrease the efficiency of planetary gear trains(PGTs).However,it exhibits an unexplained connection with the structure,making it challenging to identify without tedious computation through tooth and speed ratios,thus complicating the design process.This study employs a generic model utilizing the mechanical balance principle and reveals the fundamental laws of the previously unexplained connection for parallel-connected ring-sun-type PGTs.Two necessary and sufficient conditions,torque and structure,were proven for multi-stage and two-stage PGTs without recirculation,respectively.This shows that the structure,specifically whether the links are central gears or carriers,and the connections between them directly impact the recirculation of these PGTs.A geometric model representing the structure and kinematics was developed to visualize the power flow.Thus,the recirculation of parallel-connected ring-sun-type PGTs can be predicted without calculations.Our results provide the underlying insights to understanding recirculation from the structural connection viewpoint,thereby contributing to the conceptual design phase where the task is to select the kinematic structure and the gear size is unknown.展开更多
Structural and rotational isomorphism in planetary Gear Trains (PGTs), is tested by Hamming number method. Symmetry in PGTs can be determined from the same Hamming matrix. Bearing of the structural property like symme...Structural and rotational isomorphism in planetary Gear Trains (PGTs), is tested by Hamming number method. Symmetry in PGTs can be determined from the same Hamming matrix. Bearing of the structural property like symmetry in PGTs is studied and is used to evaluate its influence on generation of PGTs.展开更多
Background and Objective: Transthoracic and transabdominal approaches are commonly used for the surgical treatment of adenocarcinoma of the cardia. Which approach is better has been controversial for quite a long time...Background and Objective: Transthoracic and transabdominal approaches are commonly used for the surgical treatment of adenocarcinoma of the cardia. Which approach is better has been controversial for quite a long time. Our study aimed to compare the surgical trauma, range of lymph node dissection, and the prognosis of the transthoracic and transabdominal approaches for the treatment of adenocarcinoma of the cardia. Methods: The medical records of 331 patients with adenocarcinoma of the cardia treated in our hospital between 1994 and 2003 were analyzed. Of the 331 patients, 284 underwent operation via transthoracic approach and 47 via transabdominal approach. Surgery-related status, postoperative complications, range of removed lymph nodes and prognosis of the two groups were compared. Results: There was no significant difference in surgery-related status and postoperative complications between the two groups (P >0.05). The mean number of removed lymph nodes from the thoracic cavity was much higher in transthoracic group than in transabdominal group (P < 0.001), while that from the abdominal cavity was similar in both groups (P = 0.404). The thoracic lymph node metastasis rate was 18.8% in transthoracic group and 13.3% in transabdominal group. The median survival time was 29 months in transthoracic group and 28 months in transabdominal group, and the 5-year survival rates were 34.9% and 40.1% (P= 0.599). Conclusions: For the surgical treatment of adenocarcinoma of the cardia, the surgical trauma of the transthoracic approach is similar with that of transabdominal approach. The transthoracic approach has the advantage in thoracic lymph node dissection. The two approaches have no obvious effect on the prognosis.展开更多
Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm(TE)cells has been in use for more than 20 years,while its benefits in selecting euploid embryos remain controversial.Recent advances in...Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm(TE)cells has been in use for more than 20 years,while its benefits in selecting euploid embryos remain controversial.Recent advances in the ability to process embryonic cell-free DNA(cfDNA)from blastocoel fluid(BF)and spent culture media(SCM)of blastocysts in a manner similar to that of a biopsied TE sample provide a potential alternative holding great promise for obtaining cytogenetic information of the embryos without intrusive biopsy of traditional biopsy-based pre-implantation genetic testing(PGT).Several studies have reported even higher diagnostic accuracy in non-invasive PGT(ni-PGT)than conventional PGT.However,there are still several technical challenges to be overcome before ni-PGT can be accepted as a reliable genomic information source of embryo.In this review,we have summarized the emergence and current state of ni-PGT,and discussed our own perspectives on their limitations and future prospect.There is still a long way to go before truly wide clinical application of ni-PGT.展开更多
文摘目的:评估全新国产测序平台——GenoLab M DX基因测序仪在临床检测中的应用价值。方法:收集2021~2023年于我中心行辅助生殖技术助孕的患者的3位亚显微染色体拷贝数异常患者的4个染色体异常胚胎和数个IVF周期的132枚早期发育阻滞的胚胎、20个外周血样本及1个流产样本投入国产测序平台GenoLab M DX进行染色体测序,验证此平台对于CNV的有效测定。结果:4个废弃胚胎均基本上检测到预期的2~3 M的小CNV;早期发育阻滞的胚胎中成功检测127枚,染色体异常率为74.8% (95/127),32枚胚胎染色体正常;部分外周血样本中也检测出了染色体核型异常存在。结论:GenoLab M DX基因测序仪对样本进行染色体非整倍体检测,展现出超高的准确性和时效性,实现低成本前提下的高临床应用价值。Objective: To evaluate the application value of the novel domestic sequencing platform, the GenoLab M DX gene sequencer, in clinical testing. Methods: From 2021 to 2023, a total of 4 chromosomally abnormal embryos (with submicroscopic copy number variations [CNVs]) from 3 patients undergoing assisted reproductive technology (ART) at our center, 132 early development-arrested embryos from several IVF cycles, 20 peripheral blood samples, and 1 miscarriage sample were subjected to chromosomal sequencing using the domestic GenoLab M DX sequencing platform. The platform’s effectiveness in detecting CNVs was validated. Results: All four discarded embryos were essentially detected with the expected small CNVs (2~3 Mb). Among the 132 early development-arrested embryos, 127 were successfully sequenced, with a chromosomal abnormality rate of 74.8% (95/127). Thirty-two embryos were found to be chromosomally normal. Chromosomal karyotype abnormalities were also detected in some peripheral blood samples. Conclusion: The GenoLab M DX gene sequencer demonstrated ultra-high accuracy and timeliness in detecting chromosomal aneuploidy in samples, achieving high clinical application value at a low cost.
基金Supported by the Spring Light Program of the Ministry of Education of the People’s Republic of China(Grant No.Z2016129)Educational Commission of Sichuan Province of China(Grant No.15202441).
文摘Recirculation is expected to be identified for its possibility to dramatically decrease the efficiency of planetary gear trains(PGTs).However,it exhibits an unexplained connection with the structure,making it challenging to identify without tedious computation through tooth and speed ratios,thus complicating the design process.This study employs a generic model utilizing the mechanical balance principle and reveals the fundamental laws of the previously unexplained connection for parallel-connected ring-sun-type PGTs.Two necessary and sufficient conditions,torque and structure,were proven for multi-stage and two-stage PGTs without recirculation,respectively.This shows that the structure,specifically whether the links are central gears or carriers,and the connections between them directly impact the recirculation of these PGTs.A geometric model representing the structure and kinematics was developed to visualize the power flow.Thus,the recirculation of parallel-connected ring-sun-type PGTs can be predicted without calculations.Our results provide the underlying insights to understanding recirculation from the structural connection viewpoint,thereby contributing to the conceptual design phase where the task is to select the kinematic structure and the gear size is unknown.
文摘Structural and rotational isomorphism in planetary Gear Trains (PGTs), is tested by Hamming number method. Symmetry in PGTs can be determined from the same Hamming matrix. Bearing of the structural property like symmetry in PGTs is studied and is used to evaluate its influence on generation of PGTs.
文摘Background and Objective: Transthoracic and transabdominal approaches are commonly used for the surgical treatment of adenocarcinoma of the cardia. Which approach is better has been controversial for quite a long time. Our study aimed to compare the surgical trauma, range of lymph node dissection, and the prognosis of the transthoracic and transabdominal approaches for the treatment of adenocarcinoma of the cardia. Methods: The medical records of 331 patients with adenocarcinoma of the cardia treated in our hospital between 1994 and 2003 were analyzed. Of the 331 patients, 284 underwent operation via transthoracic approach and 47 via transabdominal approach. Surgery-related status, postoperative complications, range of removed lymph nodes and prognosis of the two groups were compared. Results: There was no significant difference in surgery-related status and postoperative complications between the two groups (P >0.05). The mean number of removed lymph nodes from the thoracic cavity was much higher in transthoracic group than in transabdominal group (P < 0.001), while that from the abdominal cavity was similar in both groups (P = 0.404). The thoracic lymph node metastasis rate was 18.8% in transthoracic group and 13.3% in transabdominal group. The median survival time was 29 months in transthoracic group and 28 months in transabdominal group, and the 5-year survival rates were 34.9% and 40.1% (P= 0.599). Conclusions: For the surgical treatment of adenocarcinoma of the cardia, the surgical trauma of the transthoracic approach is similar with that of transabdominal approach. The transthoracic approach has the advantage in thoracic lymph node dissection. The two approaches have no obvious effect on the prognosis.
基金We thank professors Cynthia Casson Morton and Yiping Shen from Harvard Medical School and professor Sharon YC Ruan from Hong Kong Polytechnic University for revising the manuscript.This work was supported by the National Key Research and Development Program of China(2018YFC1005003)the National Natural Science Foundation of China(81974224,81771535)+2 种基金the Natural Science Foundation of Zhejiang Province(LZ18H040001,LQ19H040007)Zhejiang Provincial Key Medical Technology Program(WKJ-ZJ-1826)Zhejiang University Education Foundation Global Partnership Fund.The authors declared no conflict of interest.
文摘Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm(TE)cells has been in use for more than 20 years,while its benefits in selecting euploid embryos remain controversial.Recent advances in the ability to process embryonic cell-free DNA(cfDNA)from blastocoel fluid(BF)and spent culture media(SCM)of blastocysts in a manner similar to that of a biopsied TE sample provide a potential alternative holding great promise for obtaining cytogenetic information of the embryos without intrusive biopsy of traditional biopsy-based pre-implantation genetic testing(PGT).Several studies have reported even higher diagnostic accuracy in non-invasive PGT(ni-PGT)than conventional PGT.However,there are still several technical challenges to be overcome before ni-PGT can be accepted as a reliable genomic information source of embryo.In this review,we have summarized the emergence and current state of ni-PGT,and discussed our own perspectives on their limitations and future prospect.There is still a long way to go before truly wide clinical application of ni-PGT.
