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.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.
5.Short-term efficacy analysis of platelet-rich plasma in arthroscopic rotator cuff repair by comparison of LP-PRP and LR-PRP
Pengshan WANG ; Xiaosong BAI ; Haoran SUN ; Haoxuan LI ; Hongwei CHAI ; Hao LIU ; Hao GUO ; Shuqin ZHU ; Xiaoxin SUN
The Journal of Practical Medicine 2024;40(19):2713-2719
Objective By comparing with arthroscopic rotator cuff repair alone,to explore the efficacy and difference of leukocyte poor platelet-rich plasma(LP-PRP)and leukocyte rich platelet-rich plasma(LR-PRP)in arthroscopic rotator cuff repair.Methods Sixty patients with total rotator cuff tear accompanied by arthroscopic rotator cuff repair admitted to the Affiliated Hospital of North China University of Science and Technology from October 2021 to September 2022 were included and randomly divided into control group(n=20),LP-PRP group(n=20)and LR-PRP group(n=20).The control group only received arthroscopic rotator cuff repair.The LP-PRP group was injected with leukocyte poor platelet-rich plasma(LP-PRP)into the sutured torn tendon after the same operation,and the LR-PRP group was injected with leukocyte rich platelet-rich plasma(LR-PRP)into the sutured torn tendon after the same operation.The postoperative rehabilitation training plan of the three groups was the same,and the postoperative follow-up and evaluation were conducted for 1 year.It included pain score(VAS score),shoulder joint function score(CMS,UCLA,ASES score),retear rate and related complications.Results All patients were followed up.(1)VAS score:Compared with the LR-PRP group and the control group,the results were statistically significant only at 1,3 and 6 weeks after surgery(P<0.05);There was no statistical significance between the LR-PRP group and the control group at 1 week,3 weeks,6 weeks,3 months,6 months and 12 months after surgery(P>0.05).(2)CMS,UCLA and ASES scores:There were no significant differences between the LP-PRP group and the LR-PRP group at 3 months,6 months and 12 months after surgery(P>0.05);Compared with LP-PRP group and LR-PRP group,there were significant differences in each follow-up time point of control group(P<0.05).(3)Retear rate:In the LP-PRP group,there was 1 retear in the LR-PRP group(tear rate 5%),and 3 in the control group(tear rate 15%).There was no statistically significant difference between the three groups(P>0.05).(4)There were no postoperative complications in 60 patients.Conclusions Compared with arthroscopic rotator cuff repair alone,although the application of LP-PRP and LR-PRP could not reduce the rate of retear,it could significantly improve the shoulder joint function of patients,and LP-PRP could significantly reduce the pain of patients with rotator cuff injury in the early postoperative period(within 6 weeks),with no postoperative complications,and the short-term clinical results of patients were satisfactory.
6.A national multi-center prospective study on the perioperative practice of enhanced recovery after surgery for choledochal cysts in children
Ming YUE ; Jiexiong FENG ; Yan′an LI ; Yuanmei LIU ; Zhigang GAO ; Qi CHEN ; Hongwei XI ; Qiang YIN ; Chengji ZHAO ; Yuzuo BAI ; Wanfu LI ; Libin ZHU ; Weibing TANG ; Hongqiang BIAN ; Huizhong NIU ; Zhiheng GUO ; Heying YANG
Chinese Journal of General Surgery 2024;39(11):827-832
Objective:To evaluate the safety and efficacy of enhanced recovery after surgery(ERAS) in the perioperative period of congenital choledochal cysts in children.Methods:This is a multicenter prospective randomized controlled study. The clinical data of 273 pediatric congenital choledochal cysts(CCC) patients who underwent surgery at 14 medical centers with complete follow-up data were collected through the medical data analysis platform. Among them, 123 cases in ERAS group were managed perioperatively in strict accordance with ERAS mode, and 150 cases in conventional group were managed according to traditional mode. The length of hospital stay,time to first farting, time to complete feeding, the incidence of complications, cost and readmission rate within 30 days,stress indexes and liver function were compared between the two groups.Results:Compared with the conventional group, median time to start farting (2.0 d vs. 3.0 d, P<0.001), median time to complete feeding (5.0 d vs. 7.0 d, P<0.001), median postoperative hospitalization time (6.0 d vs. 9.0 d, P<0.001),the median total length of stay(13.0 d vs. 15.0 d, P<0.001) were shorter,the median hospitalization cost (37,000 yuan vs.43,000 yuan P<0.001) was lower, and stress indexes recovered quickly. The incidence of postoperative hospital stay and readimission rate within 30 d were not statistically different between the two groups. Conclusion:It is safe and feasible to implement ERAS for children with CCC in the perioperative period, which can reduce stress response, speed up recovery,and save medical costs.
7.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.
8.Value of serum Lp-PLA2 in the diagnostic grading and prognostic assessment of pneumonia-related acute respiratory distress syndrome
Yujia YANG ; Baojun DONG ; Jinhui QU ; Jin HUANG ; Xue BAI ; Hongwei YANG
Chinese Journal of Clinical Laboratory Science 2024;42(8):580-585
Objective To explore the value of lipoprotein-associated phospholipase A2(Lp-PLA2)in the diagnostic grading and prog-nostic assessment of pneumonia-associated acute respiratory distress syndrome(p-ARDS).Methods The study was a prospective ob-servational study.Fifty-seven patients with p-ARDS admitted to the ICU ward of Tianjin Hospital from January 2022 to August 2023 were included as the research subjects.Twenty-six pneumonia patients admitted to the general respiratory ward during the same period and 10 healthy individuals undergoing medical examinations were selected as the control group.Their serum samples were collected,and the samples from p-ARDS and pneumonia patients were obtained within 24 hours of admission.The levels of serum Lp-PLA2,in-terleukin 6(IL-6),and IL-8 were detected using the Luminex? multiplex test kit.The baseline data and laboratory test results,inclu-ding routine blood parameters,biochemical markers,C-reactive protein(CRP),procalcitonin(PCT),and D-dimer at admission,were collected from the patients with p-ARDS or pneumonia.The levels of serum Lp-PLA2 were compared by grouping based on clinical diagnosis,severity of ARDS,and clinical outcomes on day 28 after admission.The diagnostic and prognostic value of serum Lp-PLA2 in p-ARDS was evaluated by plotting the receiver operating characteristic(ROC)curve,Spearman correlation analysis,and Logistic regression analysis.Results The levels of serum Lp-PLA2 in the p-ARDS group([233.67±83.49]ng/mL)were significantly higher than that in the pneumonia group([150.86±39.48]ng/mL,P<0.05),while those in the pneumonia group were significantly higher than that in the healthy control group([150.86±39.48]ng/mL vs[92.07±12.89]ng/mL,P<0.05).The analysis results of the ROC curve showed that serum Lp-PLA2 had a better ability to distinguish p-ARDS from pneumonia than indicators such as IL-6,IL-8,CRP,and PCT,with an area under the ROC curve(AUCROC)of 0.781(95%CI:0.685-0.878).The diagnostic value of serum Lp-PLA2 combined with D-dimer was higher,with an AUCROC of 0.897(95%CI:0.832-0.963).Subgroup analysis found that as lung inju-ry worsened,the levels of serum Lp-PLA2 increased,and that serum Lp-PLA2 levels were negatively correlated with the PaO2/FiO2 ra-tio in p-ARDS patients(r=-0.549)and positively correlated with the sequential organ failure assessment(SOFA)scores at admission(r=0.412).The levels of serum Lp-PLA2 in the death group of p-ARDS were significantly higher than that in the survival group([314.5±43.1]ng/mL vs[174.9±48.9]ng/mL,P<0.001).Logistic regression analysis showed that after adjusting for the SOFA score,serum Lp-PLA2 was independently associated with the mortality risk on day 28 after admission(OR=1.099,95%CI:1.026-1.178,P=0.007).Similar results were obtained after adjusting for IL-8 or the PaO2/FiO2 ratio.Conclusion Serum Lp-PLA2 may be used as a biomarker to aid in the diagnostic grading and prognostic assessment of p-ARDS.
9.Surveillance of antifungal resistance in clinical isolates of Candida spp.in East China Invasive Fungal Infection Group from 2018 to 2022
Dongjiang WANG ; Wenjuan WU ; Jian GUO ; Min ZHANG ; Huiping LIN ; Feifei WAN ; Xiaobo MA ; Yueting LI ; Jia LI ; Huiqiong JIA ; Lingbing ZENG ; Xiuhai LU ; Yan JIN ; Jinfeng CAI ; Wei LI ; Zhimin BAI ; Yongqin WU ; Hui DING ; Zhongxian LIAO ; Gen LI ; Hui ZHANG ; Hongwei MENG ; Changzi DENG ; Feng CHEN ; Na JIANG ; Jie QIN ; Guoping DONG ; Jinghua ZHANG ; Wei XI ; Haomin ZHANG ; Rong TANG ; Li LI ; Suzhen WANG ; Fen PAN ; Jing GAO ; Lu JIANG ; Hua FANG ; Zhilan LI ; Yiqun YUAN ; Guoqing WANG ; Yuanxia WANG ; Liping WANG
Chinese Journal of Infection and Chemotherapy 2024;24(4):402-409
Objective To monitor the antifungal resistance of clinical isolates of Candida spp.in the East China region.Methods MALDI-TOF MS or molecular methods were used to re-identify the strains collected from January 2018 to December 2022.Antifungal susceptibility testing was performed using the broth microdilution method.The susceptibility test results were interpreted according to the breakpoints of 2022 Clinical and Laboratory Standards Institute(CLSI)documents M27 M44s-Ed3 and M57s-Ed4.Results A total of 3 026 strains of Candida were collected,65.33%of which were isolated from sterile body sites,mainly from blood(38.86%)and pleural effusion/ascites(10.21%).The predominant species of Candida were Candida albicans(44.51%),followed by Candida parapsilosis complex(19.46%),Candida tropicalis(13.98%),Candida glabrata(10.34%),and other Candida species(0.79%).Candida albicans showed overall high susceptibility rates to the 10 antifungal drugs tested(the lowest rate being 93.62%).Only 2.97%of the strains showed dose-dependent susceptibility(SDD)to fluconazole.Candida parapsilosis complex had a SDD rate of 2.61%and a resistance rate of 9.42%to fluconazole,and susceptibility rates above 90%to other drugs.Candida glabrata had a SDD rate of 92.01%and a resistance rate of 7.99%to fluconazole,resistance rates of 32.27%and 48.24%to posaconazole and voriconazole non-wild-type strains(NWT),respectively,and susceptibility rates above 90%to other drugs.Candida tropicalis had resistance rates of 29.55%and 26.24%to fluconazole and voriconazole,respectively,resistance rates of 76.60%and 21.99%to posaconazole and echinocandins non-wild-type strains(NWT),and a resistance rate of 2.36%to echinocandins.Conclusions The prevalence and species distribution of Candida spp.in the East China region are consistent with previous domestic and international reports.Candida glabrata exhibits certain degree of resistance to fluconazole,while Candida tropicalis demonstrates higher resistance to triazole drugs.Additionally,echinocandins resistance has emerged in Candida albicans,Candida glabrata,Candida tropicalis,and Candida parapsilosis.
10.Progress in detection technology of bovine leukemia virus
Heping BAI ; Jianjun GUO ; Hongwei ZHANG ; Qiumei SHI ; Xiaodan WANG
Chinese Journal of Veterinary Science 2024;44(7):1563-1570
Bovine leukemia virus(BLV)mainly causes bovine B-cell malignant lymphoma,which causes immunosuppression and leads animals susceptible to other diseases.BLV has been detected all over the world except in Western Europe.Antibodies to BLV have been detected in humans,and reverse transcribed DNA of BLV were detected in breast tissue sections and lung tumors,which in-dicate that BLV is a potential zoonotic disease.At present,there are no effective treatment methods or commercial vaccines for BLV.An in-depth understanding of the development of BLV detection technology will help researchers choose suitable detection methods,avoid invalid detection results,and meet the requirements of disease prevention and control.In view of this,this paper reviews 19 detection technologies of BLV including cytology detection,nucleic acid detection,and serology de-tection.The advantages,disadvantages,and scope of application were also analyzed,which provide theoretical guidance for the prevention and control of bovine leukemia.

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