1.Molecular Characteristics of Prognosis and Chemotherapy Response in Breast Cancer: Biomarker Identification Based on Gene Mutations and Pathway
Liyan LI ; Hongwei LYU ; Qian CHEN ; Yating BAI ; Jing YU ; Ruigang CAI
Journal of Breast Cancer 2025;28(2):61-71
Purpose:
This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer.
Methods:
We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses.
Results:
The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway.
Conclusion
This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.
2.Molecular Characteristics of Prognosis and Chemotherapy Response in Breast Cancer: Biomarker Identification Based on Gene Mutations and Pathway
Liyan LI ; Hongwei LYU ; Qian CHEN ; Yating BAI ; Jing YU ; Ruigang CAI
Journal of Breast Cancer 2025;28(2):61-71
Purpose:
This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer.
Methods:
We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses.
Results:
The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway.
Conclusion
This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.
3.Molecular Characteristics of Prognosis and Chemotherapy Response in Breast Cancer: Biomarker Identification Based on Gene Mutations and Pathway
Liyan LI ; Hongwei LYU ; Qian CHEN ; Yating BAI ; Jing YU ; Ruigang CAI
Journal of Breast Cancer 2025;28(2):61-71
Purpose:
This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer.
Methods:
We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses.
Results:
The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (p = 0.008 and p = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of BCL9L and WHSC1 were significantly lower in the long-term survival group than those in the short-term survival group (p = 0.029 and p = 0.024, respectively). CREB-regulated transcription coactivator 1 (CRTC1) mutations occurred significantly more frequently in the chemotherapy-resistant group (p = 0.027) and were associated with shorter progression-free survival (p = 0.036).Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (p = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (p = 0.002 and p < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway.
Conclusion
This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in BCL9L and WHSC1 could serve as biomarkers for breast cancer prognosis, while CRTC1 mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.
4.Construction and application of a quality control and improvement system for metabolic and bariatric surgery in Beijing
Peirong TIAN ; Mengyi LI ; Jingli LIU ; Rixing BAI ; Jingtao BI ; Guanglong DONG ; Yanmin DU ; Jiagang HAN ; Wei HAN ; Yong JIANG ; Yuanxin LI ; Zhifei LI ; Hongwei LIN ; Diangang LIU ; Yang LIU ; Fanqiang MENG ; Runhong NI ; Jinghai SONG ; Qiang XU ; Wenmao YAN ; Nengwei ZHANG ; Chaohui ZHONG ; Peng ZHANG ; Zhongtao ZHANG
Chinese Journal of Surgery 2025;63(7):624-629
Objective:To establish and assess the quality control and improvement system for metabolic and bariatric surgery in Beijing.Methods:Based on relevant documents from the National Health Commission and the Beijing Municipal Health Commission,and referencing the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) by the American Society for Metabolic and Bariatric Surgery,a quality control system was developed under the Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery. The system incorporated on-site evaluations,data registration,and specialized training. From May to December 2023,on-site assessments were conducted at 21 hospitals in Beijing performing bariatric surgery,evaluating personnel qualifications,infrastructure,clinical workflows,and postoperative follow-up. A quality control database was created to collect real-time surgical data,and training was provided for data entry and professional skills. Assessment results were classified as excellent,qualified,or needing improvement,with rectification suggestions offered and follow-up visits conducted to track progress.Results:All 21 hospitals achieved a 100% compliance rate for surgical indications, 16 (76.2%) met standardized surgical operation criteria,and 14 (66.7%) had standardized postoperative management. However,only 5 (23.8%) achieved a 12-month postoperative follow-up rate of ≥60%,and 4 (19.1%) had established specialized databases. Key challenges included insufficient specialized staffing (19.1%), lack of multidisciplinary collaboration (47.6%), inadequate equipment (57.1%), and low follow-up rates (57.1%). The database collected data from over 2 000 patients across 111 fields. After rectification, specialized database coverage rose to 61.9% (13 hospitals). Multi-level training programs developed backbone physicians and specialized nurses,significantly addressing the shortage of specialized personnel.Conclusion:The quality control system established in this study,through the integration of on-site evaluation,data registration,and specialized training,effectively enhances the standardization of surgical practices and data management capabilities.
5.Relationship of 25- (OH) D and MCP-1 levels with bone mineral density and bone metabolism indexes in preschool children after fractures
Jiangtao LONG ; Jie LI ; Deming BAI ; Qianqian WANG ; Yuankai YANG ; Hongwei XI
Chinese Journal of Endocrine Surgery 2025;19(2):252-256
Objective:To investigate the relationship of the levels of 25-hydroxyvitamin (OH) D, monocyte chemoattractant protein-1 (MCP-1) and bone mineral density (BMD) and bone metabolism in preschool children after fractures.Methods:General data of 200 preschool children with fractures admitted to the Department of Orthopedics of Shanxi Children’s Hospital from Apr. 2021 to Jun. 2024 were retrospectively analyzed. The 25- (OH) D level of the children after fracture was determined by electrochemical luminescence method. According to the 25- (OH) D level, the children were divided into VitD deficiency group, VitD insufficient group and VitD sufficient group. The MCP-1 level, BMD and bone metabolism indexes of children among groups were compared and analyzed. SPSS 26.0 statistical software was used to analyze the data in the paper. According to the data type, t test or χ2 test were used to compare among the groups, and the correlation of 25- (OH) D and MCP-1 levels with BMD and bone metabolism indexes was analyzed by Spearman and Pearson methods. Results:The difference of 25- (OH) D levels in different age childeren was statistically significant ( t = 145.26, P<0.05) , and the analysis showed that 26 cases were VitD deficient, 64 cases were VitD insufficient, and 110 cases were VitD sufficient; The mean BMD in VitD patients with different levels was significantly different ( F=783.25, P<0.05) ; With the increase of MCP-1, PTH and TPINP levels decreased ( F=78.98, 703.57, 243.27, P<0.05) , while the levels of PICP and BGP increased ( F=122.97, 340.32, P<0.05) ; 25- (OH) D was positively correlated with BMD, PICP and BGP ( r=0.93, 0.76, 0.87, P<0.05) , and negatively correlated with PTH and TPINP ( r=-0.94, -0.81, P<0.05) . MCP-1 was negatively correlated with BMD, PICP and BGP ( r=-0.54, -0.51, -0.56, P<0.05) , and positively correlated with PTH and TPINP ( r=0.57, 0.55, P<0.05) . Conclusions:The 25- (OH) D level is significantly correlated with BMD and bone metabolism indexes in preschool children after fracture, and the lack and insufficiency of VitD significantly affect BMD and bone metabolism status. At the same time, MCP-1 may also play an important role in metabolic changes after fracture. Therefore, in clinical treatment, it is necessary to strengthen the monitoring and management of 25- (OH) D and MCP-1 levels after fracture in children, which is of great significance to promote bone healing and improve bone density.
6.Mechanistic study of combined poisoning of diazepam and ethanol based on metabolomics
Ni HU ; Lishuang LIU ; Yiwei GUO ; Tao WANG ; Zhimei BAI ; Jing ZHANG ; Jiajie ZHANG ; Bochao LI ; Pingrong ZHOU ; Hongwei LIU ; Zhiwen WEI ; Keming YUN ; Lele WANG
Chinese Journal of Forensic Medicine 2025;40(3):284-287
Objective To study the plasma metabolomics of mice poisoned by different dosage of the combination of diazepam and ethanol,and to reveal the toxicological mechanisms of combined poisoning of diazepam and ethanol.Methods Female Kunming mice were randomly divided into blank group,single and combined poisoning group(n=6),Based on the LD50 of diazepam co-administered with graded ethanol doses,mice in the single-drug and combined groups received oral gavage at 1/2,1,and 2 × LD50.Retro-orbital blood samples(~500 μL)were collected within 24 hours post-administration and analyzed by UPLC-QE-MS technology.Principal component analysis and orthogonal partial least squares discriminant analysis were used to identify differential metabolites and associated metabolic pathways.Results A total of 387 differential metabolites were identified in the combined poisoning group of diazepam and ethanol implicating the key pathways including tryptophan metabolism,phenylalanine metabolism,arginine and proline metabolism,Glycerophospholipid metabolism,phenylalanine,tyrosine and tryptophan biosynthesis.Conclusion Combined diazepam and ethanol poisoning exerts significant systemic effects by disrupting neurotransmitters conduction,exacerbating oxidative stress response and dysregulating energy metabolism.
7.Mechanistic study of combined poisoning of diazepam and ethanol based on metabolomics
Ni HU ; Lishuang LIU ; Yiwei GUO ; Tao WANG ; Zhimei BAI ; Jing ZHANG ; Jiajie ZHANG ; Bochao LI ; Pingrong ZHOU ; Hongwei LIU ; Zhiwen WEI ; Keming YUN ; Lele WANG
Chinese Journal of Forensic Medicine 2025;40(3):284-287
Objective To study the plasma metabolomics of mice poisoned by different dosage of the combination of diazepam and ethanol,and to reveal the toxicological mechanisms of combined poisoning of diazepam and ethanol.Methods Female Kunming mice were randomly divided into blank group,single and combined poisoning group(n=6),Based on the LD50 of diazepam co-administered with graded ethanol doses,mice in the single-drug and combined groups received oral gavage at 1/2,1,and 2 × LD50.Retro-orbital blood samples(~500 μL)were collected within 24 hours post-administration and analyzed by UPLC-QE-MS technology.Principal component analysis and orthogonal partial least squares discriminant analysis were used to identify differential metabolites and associated metabolic pathways.Results A total of 387 differential metabolites were identified in the combined poisoning group of diazepam and ethanol implicating the key pathways including tryptophan metabolism,phenylalanine metabolism,arginine and proline metabolism,Glycerophospholipid metabolism,phenylalanine,tyrosine and tryptophan biosynthesis.Conclusion Combined diazepam and ethanol poisoning exerts significant systemic effects by disrupting neurotransmitters conduction,exacerbating oxidative stress response and dysregulating energy metabolism.
8.Relationship of 25- (OH) D and MCP-1 levels with bone mineral density and bone metabolism indexes in preschool children after fractures
Jiangtao LONG ; Jie LI ; Deming BAI ; Qianqian WANG ; Yuankai YANG ; Hongwei XI
Chinese Journal of Endocrine Surgery 2025;19(2):252-256
Objective:To investigate the relationship of the levels of 25-hydroxyvitamin (OH) D, monocyte chemoattractant protein-1 (MCP-1) and bone mineral density (BMD) and bone metabolism in preschool children after fractures.Methods:General data of 200 preschool children with fractures admitted to the Department of Orthopedics of Shanxi Children’s Hospital from Apr. 2021 to Jun. 2024 were retrospectively analyzed. The 25- (OH) D level of the children after fracture was determined by electrochemical luminescence method. According to the 25- (OH) D level, the children were divided into VitD deficiency group, VitD insufficient group and VitD sufficient group. The MCP-1 level, BMD and bone metabolism indexes of children among groups were compared and analyzed. SPSS 26.0 statistical software was used to analyze the data in the paper. According to the data type, t test or χ2 test were used to compare among the groups, and the correlation of 25- (OH) D and MCP-1 levels with BMD and bone metabolism indexes was analyzed by Spearman and Pearson methods. Results:The difference of 25- (OH) D levels in different age childeren was statistically significant ( t = 145.26, P<0.05) , and the analysis showed that 26 cases were VitD deficient, 64 cases were VitD insufficient, and 110 cases were VitD sufficient; The mean BMD in VitD patients with different levels was significantly different ( F=783.25, P<0.05) ; With the increase of MCP-1, PTH and TPINP levels decreased ( F=78.98, 703.57, 243.27, P<0.05) , while the levels of PICP and BGP increased ( F=122.97, 340.32, P<0.05) ; 25- (OH) D was positively correlated with BMD, PICP and BGP ( r=0.93, 0.76, 0.87, P<0.05) , and negatively correlated with PTH and TPINP ( r=-0.94, -0.81, P<0.05) . MCP-1 was negatively correlated with BMD, PICP and BGP ( r=-0.54, -0.51, -0.56, P<0.05) , and positively correlated with PTH and TPINP ( r=0.57, 0.55, P<0.05) . Conclusions:The 25- (OH) D level is significantly correlated with BMD and bone metabolism indexes in preschool children after fracture, and the lack and insufficiency of VitD significantly affect BMD and bone metabolism status. At the same time, MCP-1 may also play an important role in metabolic changes after fracture. Therefore, in clinical treatment, it is necessary to strengthen the monitoring and management of 25- (OH) D and MCP-1 levels after fracture in children, which is of great significance to promote bone healing and improve bone density.
9.Construction and application of a quality control and improvement system for metabolic and bariatric surgery in Beijing
Peirong TIAN ; Mengyi LI ; Jingli LIU ; Rixing BAI ; Jingtao BI ; Guanglong DONG ; Yanmin DU ; Jiagang HAN ; Wei HAN ; Yong JIANG ; Yuanxin LI ; Zhifei LI ; Hongwei LIN ; Diangang LIU ; Yang LIU ; Fanqiang MENG ; Runhong NI ; Jinghai SONG ; Qiang XU ; Wenmao YAN ; Nengwei ZHANG ; Chaohui ZHONG ; Peng ZHANG ; Zhongtao ZHANG
Chinese Journal of Surgery 2025;63(7):624-629
Objective:To establish and assess the quality control and improvement system for metabolic and bariatric surgery in Beijing.Methods:Based on relevant documents from the National Health Commission and the Beijing Municipal Health Commission,and referencing the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) by the American Society for Metabolic and Bariatric Surgery,a quality control system was developed under the Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery. The system incorporated on-site evaluations,data registration,and specialized training. From May to December 2023,on-site assessments were conducted at 21 hospitals in Beijing performing bariatric surgery,evaluating personnel qualifications,infrastructure,clinical workflows,and postoperative follow-up. A quality control database was created to collect real-time surgical data,and training was provided for data entry and professional skills. Assessment results were classified as excellent,qualified,or needing improvement,with rectification suggestions offered and follow-up visits conducted to track progress.Results:All 21 hospitals achieved a 100% compliance rate for surgical indications, 16 (76.2%) met standardized surgical operation criteria,and 14 (66.7%) had standardized postoperative management. However,only 5 (23.8%) achieved a 12-month postoperative follow-up rate of ≥60%,and 4 (19.1%) had established specialized databases. Key challenges included insufficient specialized staffing (19.1%), lack of multidisciplinary collaboration (47.6%), inadequate equipment (57.1%), and low follow-up rates (57.1%). The database collected data from over 2 000 patients across 111 fields. After rectification, specialized database coverage rose to 61.9% (13 hospitals). Multi-level training programs developed backbone physicians and specialized nurses,significantly addressing the shortage of specialized personnel.Conclusion:The quality control system established in this study,through the integration of on-site evaluation,data registration,and specialized training,effectively enhances the standardization of surgical practices and data management capabilities.
10.Analysis of temporal trends of the incidence rate of tuberculosis in Shaanxi Province
Hengliang LYU ; Hongwei ZHANG ; Hui CHEN ; Xihao LIU ; Xueli ZHANG ; Xin ZHANG ; Junzhu BAI ; Shumeng YOU ; Yuanyong XU ; Wenyi ZHANG
Chinese Journal of Preventive Medicine 2024;58(11):1659-1664
Objective:To analyze the temporal trends of the incidence rate of tuberculosis (TB) in Shaanxi Province and provide a reference for WHO to control the prevalence of TB effectively.Methods:Joinpoint regression was used to analyze the trend of the incidence rate of TB in Shaanxi Province from 2004 to 2022, and the seasonal autoregressive moving average model was used to forecast the incidence rate of TB in Shaanxi Province to 2030.Results:The incidence rate of TB in Shaanxi Province decreased from 90.896/100 000 in 2004 to 35.364/100 000 in 2022, showing a general downward trend (AAPC=-7.72%, P<0.001). From 2014 to 2019, the reduction trend slowed down (APC=-0.69%, P=0.814), of which the largest decline occurred from 2019 to 2022 (APC=-13.26%, P=0.010). The predicted incidence rate of TB in Shaanxi Province from 2020 to 2022 was higher than the reported incidence rate, with the expected incidence rate of 51.342/100 000 in 2022 and 43.468/100 000 in 2030. Conclusion:The incidence rate of TB in Shaanxi Province shows a downward trend from 2004 to 2022, but the decline has shrunk in recent years. It is predicted that the downward trend will continue to slow down by 2030.

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