1.Genetic analysis of four individuals harboring a 16q22 fragile site
Xiaoxiao HUANG ; Rong QIANG ; Yuan LIU ; Xue BAI ; Shuxian LI ; Qiujie JIN ; Qingting BU
Chinese Journal of Medical Genetics 2025;42(4):500-504
Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
2.Expert Consensus on the Ethical Requirements for Generative AI-Assisted Academic Writing
You-Quan BU ; Yong-Fu CAO ; Zeng-Yi CHANG ; Hong-Yu CHEN ; Xiao-Wei CHEN ; Yuan-Yuan CHEN ; Zhu-Cheng CHEN ; Rui DENG ; Jie DING ; Zhong-Kai FAN ; Guo-Quan GAO ; Xu GAO ; Lan HU ; Xiao-Qing HU ; Hong-Ti JIA ; Ying KONG ; En-Min LI ; Ling LI ; Yu-Hua LI ; Jun-Rong LIU ; Zhi-Qiang LIU ; Ya-Ping LUO ; Xue-Mei LV ; Yan-Xi PEI ; Xiao-Zhong PENG ; Qi-Qun TANG ; You WAN ; Yong WANG ; Ming-Xu WANG ; Xian WANG ; Guang-Kuan XIE ; Jun XIE ; Xiao-Hua YAN ; Mei YIN ; Zhong-Shan YU ; Chun-Yan ZHOU ; Rui-Fang ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(6):826-832
With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.
3.Genetic analysis of four individuals harboring a 16q22 fragile site.
Xiaoxiao HUANG ; Rong QIANG ; Yuan LIU ; Xue BAI ; Shuxian LI ; Qiujie JIN ; Qingting BU
Chinese Journal of Medical Genetics 2025;42(4):500-504
OBJECTIVE:
To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.
METHODS:
Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).
RESULTS:
The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.
CONCLUSION
Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
Humans
;
Chromosome Fragile Sites/genetics*
;
Chromosomes, Human, Pair 16/genetics*
;
DNA Copy Number Variations/genetics*
;
Karyotyping
4.Expert Consensus on the Ethical Requirements for Generative AI-Assisted Academic Writing
You-Quan BU ; Yong-Fu CAO ; Zeng-Yi CHANG ; Hong-Yu CHEN ; Xiao-Wei CHEN ; Yuan-Yuan CHEN ; Zhu-Cheng CHEN ; Rui DENG ; Jie DING ; Zhong-Kai FAN ; Guo-Quan GAO ; Xu GAO ; Lan HU ; Xiao-Qing HU ; Hong-Ti JIA ; Ying KONG ; En-Min LI ; Ling LI ; Yu-Hua LI ; Jun-Rong LIU ; Zhi-Qiang LIU ; Ya-Ping LUO ; Xue-Mei LV ; Yan-Xi PEI ; Xiao-Zhong PENG ; Qi-Qun TANG ; You WAN ; Yong WANG ; Ming-Xu WANG ; Xian WANG ; Guang-Kuan XIE ; Jun XIE ; Xiao-Hua YAN ; Mei YIN ; Zhong-Shan YU ; Chun-Yan ZHOU ; Rui-Fang ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(6):826-832
With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.
5.Genetic analysis of four individuals harboring a 16q22 fragile site
Xiaoxiao HUANG ; Rong QIANG ; Yuan LIU ; Xue BAI ; Shuxian LI ; Qiujie JIN ; Qingting BU
Chinese Journal of Medical Genetics 2025;42(4):500-504
Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
6.Diagnostic value of 3D fast spin-echo sequence scanning combined with multislice spiral CT in knee cruciate ligament injury
You-Qiang LI ; Hai-Jiao WANG ; Bu-Qi ZHU ; Liang WANG ; Hong QIAN ; Chang-Yin WANG
China Journal of Orthopaedics and Traumatology 2024;37(2):153-158
Objective To explore the potential value of three-dimensional fast spin echo(3D-SPACE)combined with multilayer spiral CT(MSCT)in the diagnosis of knee cruciate ligament injury,to provide a new direction for the optimization of subsequent clinical diagnosis.Methods A total of 120 patients with knee cruciate ligament injury were treated from April 2020 to April 2021,aged from 21 to 68 with an average of(41.52±4.13)years old.For all patients,separate MSCT scanner scans,3D-SPACE sequence scans alone and 3D-SPACE sequence combined with MSCT scans were used.The injury and classifica-tion of the anterior and posterior cruciate ligament of the knee were compared,the length of the anterior-medial bundle and posterolateral bundle and its angle of the knee with the horizontal plane were observed,the diagnostic value of 3 diagnostic methods in knee cruciate ligament injury were determined.Results There was no significant difference between the 3D-SPACE sequence scan alone and the MSCT test alone on the total diagnostic rate and grading total diagnostic rate(P>0.05).The total diagnostic rate and grading total diagnostic rate of 3D-SPACE scan combined with MSCT were significantly higher than those of 3D-SPACE scan or MSCT alone(P<0.05).The 3D-SPACE sequence scan alone and the MSCT detection alone had no signifi-cant difference in the measurement values related to the anterior and posterior cruciate ligaments of the knee joint(P>0.05).3D-SPACE sequence scanning combined with MSCT detection on the knee joint anterior and posterior cruciate ligament related mea-surements were significantly higher than the 3D-SPACE sequence scan or MSCT detection alone(P<0.05).The area under the ROC curve estimated by 3D-SPACE sequence scanning combined with MSCT was 0.960,which was significantly higher than that of 3D-SPACE sequence scanning and MSCT alone evaluating the area under the ROC curve line of 0.756 and 0.795.The com-bined 3D-SPACE sequence scanning and 3D-SPACE sequence scanning MSCT analysis and prediction models were statistically different(Z=2.236,P<0.05),and MSCT alone and 3D-SPACE sequence scanning combined with MSCT analysis and prediction models were statistically different(Z=2.653,P<0.05).Conclusion The application of 3D-SPACE sequence combined with MSCT scanning for knee cruciate ligament injury can improve the diagnosis rate of patients with knee cruciate ligament injury.It can be used as a diagnostic tool for patients with knee cruciate ligament injury and is worthy of clinical application.
8.Investigation and analysis of occupational hazard factors in different industries in Tongliao City
Qiang WANG ; Liping LIU ; Kun ZHU ; Zhaohui WANG ; Min ZHANG ; Ning BU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2023;41(9):659-663
Objective:To investigate the occupational hazard factors of different industries in Tongliao City, and to provide scientific basis for the prevention and control of occupational disease in Tongliao City.Methods:In July 2021, the detection data of coal dust, silica dust, cement dust, benzene, noise and other occupational hazard factors, as well as the occupational health examination data of workers in various positions of 104 enterprises in different industries in Tongliao City were cllected and anylazed. χ 2 test was used to analyze the results of chest radiography of workers in different age groups. Results:A total of 104 enterprises were investigated, and the median time-weighted average concentration ( CTWA) of coal dust, silic a dust, cement dust and benzene in contact with test posts were 0.94, 0.30, 0.70 and 0.95 mg/m 3, respectively. The median 8 h equivalent sound level ( LEX, 8 h) of noise was 74.1 dB (A) . The over standard rates of silica dust, cement dust and noise contact positions were 10.83% (16/240) , 7.14% (2/28) and 0.48% (3/628) , respectively. The differences of chest X-ray examination of coal dust and silica dust workers in different working ages were statistically significant (χ 2=218.50, 531.80, P<0.001) . The difference of hearing threshold of noise workers with different working age was statistically significant (χ 2=1290.00, P<0.001) . The rates of leukopenia and neutropenia were 41.90% (44/105) and 20.95% (22/105) in benzene exposed workers. The positive rate of brucella exposure workers was 1.33% (1/75) for tiger red plate agglutination test and 3.23% (3/93) for tube agglutination test. Conclusion:Silica dust, cement dust and noise exceed the standard in some posts and places in the Tongliao City, and some workers are infected with Brucella. In the future, we can focus on monitoring noise-generating posts, strengthen supervision and implement prevention and control measures to reduce the incidence of occupational diseases.
9.Investigation and analysis of occupational hazard factors in different industries in Tongliao City
Qiang WANG ; Liping LIU ; Kun ZHU ; Zhaohui WANG ; Min ZHANG ; Ning BU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2023;41(9):659-663
Objective:To investigate the occupational hazard factors of different industries in Tongliao City, and to provide scientific basis for the prevention and control of occupational disease in Tongliao City.Methods:In July 2021, the detection data of coal dust, silica dust, cement dust, benzene, noise and other occupational hazard factors, as well as the occupational health examination data of workers in various positions of 104 enterprises in different industries in Tongliao City were cllected and anylazed. χ 2 test was used to analyze the results of chest radiography of workers in different age groups. Results:A total of 104 enterprises were investigated, and the median time-weighted average concentration ( CTWA) of coal dust, silic a dust, cement dust and benzene in contact with test posts were 0.94, 0.30, 0.70 and 0.95 mg/m 3, respectively. The median 8 h equivalent sound level ( LEX, 8 h) of noise was 74.1 dB (A) . The over standard rates of silica dust, cement dust and noise contact positions were 10.83% (16/240) , 7.14% (2/28) and 0.48% (3/628) , respectively. The differences of chest X-ray examination of coal dust and silica dust workers in different working ages were statistically significant (χ 2=218.50, 531.80, P<0.001) . The difference of hearing threshold of noise workers with different working age was statistically significant (χ 2=1290.00, P<0.001) . The rates of leukopenia and neutropenia were 41.90% (44/105) and 20.95% (22/105) in benzene exposed workers. The positive rate of brucella exposure workers was 1.33% (1/75) for tiger red plate agglutination test and 3.23% (3/93) for tube agglutination test. Conclusion:Silica dust, cement dust and noise exceed the standard in some posts and places in the Tongliao City, and some workers are infected with Brucella. In the future, we can focus on monitoring noise-generating posts, strengthen supervision and implement prevention and control measures to reduce the incidence of occupational diseases.
10.Current status of surgery for portal hypertension in China: a national multi-center survey analysis
Lei ZHENG ; Haiyang LI ; Jizhou WANG ; Xiao LIANG ; Jian DOU ; Jitao WANG ; Qiang FAN ; Xiong DING ; Wenlong ZHAI ; Yun JIN ; Bo LI ; Songqing HE ; Tao LI ; Jun LIU ; Kui WANG ; Zhiwei LI ; Yongyi ZENG ; Yingmei SHAO ; Yang BU ; Dong SHANG ; Yong MA ; Cheng LOU ; Xinmin YIN ; Jiefeng HE ; Haihong ZHU ; Jincai WU ; Zhidan XU ; Dunzhu BASANG ; Jianguo LU ; Liting ZHANG ; Jianguo ZHAO ; Ling LYU ; Guoyue LYU ; Nim CHOI ; To Tan CHEUNG ; Meng LUO ; Wanguang ZHANG ; Xiaolong QI ; Xiaoping CHEN
Chinese Journal of Organ Transplantation 2023;44(3):152-159
Objective:To explore the current status of surgery for portal hypertension to grasp current status and future development of surgery in China.Methods:This study is jointly sponsored by China Hepatobiliary & Pancreatic Specialist Alliance & Portal Hypertension Alliance in China (CHESS).Comprehensive surveying is conducted for basic domestic situations of surgery for portal hypertension, including case load, surgical approaches, management of postoperative complications, primary effects, existing confusion and obstacles, liver transplantation(LT), laparoscopic procedures and transjugular intrahepatic portosystemic shunt(TIPS), etc.Results:A total of 8 512 cases of portal hypertension surgery are performed at 378 hospitals nationwide in 2021.Splenectomy plus devascularization predominated(53.0%)and laparoscopy accounted for 76.1%.Primary goal is preventing rebleeding(67.0%) and 72.8% of hospitals used preventive anticoagulants after conventional surgery.And 80.7% of teams believe that the formation of postoperative portal vein thrombosis is a surgical dilemma and 65.3% of hospitals practiced both laparoscopy and TIPS.The major reasons for patients with portal hypertension not receiving LT are due to a lack of qualifications for LT(69.3%)and economic factors(69.0%).Conclusions:Surgery is an integral part of management of portal hypertension in China.However, it is imperative to further standardize the grasp of surgical indications, the handling of surgical operation and the management of postoperative complications.Moreover, prospective, multi-center randomized controlled clinical studies should be performed.

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