1.From Gene Expression to Transcriptome-wide Association Study: Development and Comparison of Methodology
Kun FANG ; Guozhuang LI ; Linting WANG ; Qing LI ; Kexin XU ; Lina ZHAO ; Zhihong WU ; Jianguo ZHANG ; Nan WU
Medical Journal of Peking Union Medical College Hospital 2026;17(1):223-229
Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study(TWAS) offers a novel perspective by linkinggenetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.
2.Efficacy and safety of a facilitated percutaneous coronary intervention with half-dose recombinant staphylokinase in ST-segment elevation myocardial infarction
Tian-yu WU ; Wen-hao ZHANG ; Peng-sheng CHEN ; Chen LI ; Tian WU ; Zhan LÜ ; Tong WANG ; Kun LIU ; Zhi-wen TAO ; Xiao-xuan GONG ; Liang YUAN ; Yong LI ; Bo CHEN ; Xin CHEN ; Zeng-guang CHEN ; Nai-quan YANG ; Yuan-yuan SANG ; Xiao-yan WANG ; Bai-hong LI ; Li ZHU ; Guo-yu WANG ; Xin ZHAO ; Chuan LU ; Jun JIANG ; Rui-na HAO ; Chun-jian LI
Chinese Journal of Interventional Cardiology 2025;33(8):431-438
Objective To investigate the clinical efficacy and safety of facilitated percutaneous coronary intervention(PCI)with half-dose recombinant staphylokinase(r-SAK)in patients with ST-segment elevation myocardial infarction(STEMI)who are expected to undergo PCI within 120 minutes.Methods From October 2021 to August 2022,a total of 200 STEMI patients in eight centers were included and randomly assigned in a 1﹕1 ratio to either r-SAK group or control group.Patients received loading doses of aspirin and ticagrelor and intravenous heparin and were randomized to receive an intravenous bolus of either 5 mg r-SAK or normal saline prior to PCI.The outcomes were set as ST-segment resolution(STR)at 60-90 minutes after PCI,the proportion and transition of pathological Q waves on the 5th day after PCI,and the proportion of high-sensitivity cardiac troponin T(hs-cTnT)peaking within 12 hours of onset.The safety outcome was major bleeding events defined as Bleeding Academic Research Consortium(BARC)≥type 3 bleeding during hospitalization.Results Compared with the control group,the r-SAK group had a higher proportion of STR≥70%within 60-90 minutes after PCI(58.3%vs.40.3%,P=0.009);a lower proportion of pathological Q waves(59.1%vs.74.1%,P=0.040);a lower rate of Q wave progression(14.8%vs.43.2%,P<0.001);a higher rate of Q wave disappearance(12.5%vs.3.7%,P=0.027);and a higher proportion of hs-cTnT peaking within 12 hours of symptom onset[31/40(77.5%)vs.17/33(51.5%),P=0.027].Regarding the safety outcome,no significant difference in BARC≥type 3 bleeding was found between the two groups during hospitalization(P>0.05).Conclusions For STEMI patients who were expected to undergo primary PCI within 120 minutes of symptom onset,the facilitated PCI with half-dose r-SAK significantly increased the proportion of STR≥70%at 60-90 minutes after PCI,reduced the formation of pathological Q waves,and shortened the time to peak hs-cTnT,without increasing the risk of bleeding,which should be an alternative reperfusion strategy worthy of further study.
3.Research on the anti-tumor mechanism of toosendanin combined with olaparib in triple negative breast cancer
Huiqi HUANG ; Qiuyuan WU ; Kun ZHANG ; Peixian LI ; Yaming XIONG ; Guolin YE ; Dan ZHOU
Tianjin Medical Journal 2025;53(9):897-903
Objective To investigate the anti-tumor mechanism of natural compound toosendanin(TSN)combined with olaparib in triple-negative breast cancer(TNBC).Methods Human TNBC cell line MDA-MB-231 was cultured in vitro.Effects of TSN combined with olaparib on autophagy levels and cell viability in MDA-MB-231 cells were evaluated using 0.5,1.0,and 5.0 μmol/L olaparib alone or in combination.Surgical specimens from four TNBC patients who had residual tumors after neoadjuvant chemotherapy were selected to establish patient-derived organoid(PDO)models.The drug sensitivity of TSN combined with olaparib in TNBC patients was detected.Whether TSN combined with olaparib can exert autophagy inhibitory effects and tumor-killing effects in organoid model was verified.Results Olaparib induced autophagy in MDA-MB-231 cell line,and the combination of TSN and olaparib inhibited the proliferation of MDA-MB-231 cells(P<0.01).In the TNBC PDOs model,the therapeutic effect of olaparib combined with TSN can significantly reduce the proliferation ability of tumor cells compared with olaparib alone.Conclusion The tumor-killing effect of TSN combined with olaparib is superior to that of olaparib alone,and the mechanism may be related to autophagy inhibition.
4.Analgesic effect of ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia after lower abdominal surgery
Shu-ting LI ; Tan-guang WU ; Guo-jiang YIN ; Kun LI ; Xiao-yang SONG
Journal of Regional Anatomy and Operative Surgery 2025;34(10):904-907
Objective To investigate the analgesic effect of ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia after lower abdominal surgery.Methods A total of 134 patients who underwent lower abdominal surgery in General Hospital of Central Theater Command from April 2021 to April 2024 were prospectively selected and randomly divided into the observation group and the control group,with 67 patients in each group.Patients in the observation group received ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia.Patients in the control group underwent only patient-controlled intravenous analgesia.The number of analgesic pump compressions and the cumulative sufentanil consumption 4 hours,6 hours,12 hours,and 24 hours after surgery,the visual analogue score(VAS)of pain at rest and exercise,and the incidence of adverse reactions during postoperative analgesia were compared between the two groups.Results Compared with the control group,the number of analgesic pump compressions and the cumulative sufentanil consumption of patients were fewer/less at 6 hours,12 hours and 24 hours after surgery in the observation group(P<0.05).The VAS scores of patients at exercise 4 hours,6 hours,12 hours and 24 hours after surgery in the observation group were significantly lower than those in the control group(P<0.05).The incidence of nausea,vomiting and vertigo in the observation group was significantly lower than that in the control group(P<0.05).Conclusion Compared with patient-controlled intravenous analgesia,ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia can significantly reduce the number of analgesia pump compressions and the cumulative sufentanil consumption in postoperative analgesia of lower abdominal surgery,and has a better effect in relieving exercise pain,it can also reduce the occurrence of adverse reactions such as nausea and vomiting.
5.Analgesic effect of ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia after lower abdominal surgery
Shu-ting LI ; Tan-guang WU ; Guo-jiang YIN ; Kun LI ; Xiao-yang SONG
Journal of Regional Anatomy and Operative Surgery 2025;34(10):904-907
Objective To investigate the analgesic effect of ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia after lower abdominal surgery.Methods A total of 134 patients who underwent lower abdominal surgery in General Hospital of Central Theater Command from April 2021 to April 2024 were prospectively selected and randomly divided into the observation group and the control group,with 67 patients in each group.Patients in the observation group received ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia.Patients in the control group underwent only patient-controlled intravenous analgesia.The number of analgesic pump compressions and the cumulative sufentanil consumption 4 hours,6 hours,12 hours,and 24 hours after surgery,the visual analogue score(VAS)of pain at rest and exercise,and the incidence of adverse reactions during postoperative analgesia were compared between the two groups.Results Compared with the control group,the number of analgesic pump compressions and the cumulative sufentanil consumption of patients were fewer/less at 6 hours,12 hours and 24 hours after surgery in the observation group(P<0.05).The VAS scores of patients at exercise 4 hours,6 hours,12 hours and 24 hours after surgery in the observation group were significantly lower than those in the control group(P<0.05).The incidence of nausea,vomiting and vertigo in the observation group was significantly lower than that in the control group(P<0.05).Conclusion Compared with patient-controlled intravenous analgesia,ultrasound-guided quadratus lumborum block combined with patient-controlled intravenous analgesia can significantly reduce the number of analgesia pump compressions and the cumulative sufentanil consumption in postoperative analgesia of lower abdominal surgery,and has a better effect in relieving exercise pain,it can also reduce the occurrence of adverse reactions such as nausea and vomiting.
6.Research on low-dose CT image denoising method based on improved Corediff model
Li-mei SONG ; Hang WU ; Yi-feng HUANG ; Qiang WANG ; Guan-jun LIU ; Feng CHEN ; Ming YU ; Jian-kun SHEN
Chinese Medical Equipment Journal 2025;46(5):9-13
Objective To propose a low-dose CT image denoising method based on an improved Corediff model to recover the detailed features of the image and enhance the image quality.Methods An RS-Corediff model was established by modifying the key component U-Net network of the Corediff model.Firstly,the residual module was introduced in the network input stage for feature extraction;secondly,a new downsampling module was designed in the U-Net network encoder,which learned the semantic information of the feature map by convolution and maintained the learning state during the downsampling process so as to fully extract the image features;thirdly,the feature splicing processing was used to further enhance the learning effect during the upsampling process of the U-Net network decoder;finally,the convolutional kernel size was modified to adjust the sensory field during the convolutional process of the whole U-Net network structure so as to obtain rich features.The RS-Corediff model was compared with the residual encoder-decoder convolutional neural network(RED-CNN)model and the Corediff model on the public dataset AAPM 2016 in order to verify its effectiveness for low-dose CT image denoising.Results The RS-Corediff model gained advantages over the RED-CNN and Corediff models with a peak signal-to-noise ratio(PSNR)of 41.269 8,structural similarity(SSIM)of 0.953 4 and root mean square error(RMSE)of 17.568 7.Conclusion The proposed method effectively preserves the texture and details of low-dose CT images during the denoising process to improve the overall quality of the images.[Chinese Medical Equipment Journal,2025,46(5):9-13]
7.Simultaneous content determination of twelve constituents in Anshen Buxin Liuwei Pills by HPLC-MS/MS and their chemical pattern recognition
Cheng-dong LIU ; Jun LI ; Qian ZHANG ; Jing LIU ; Jing-kun LU ; Xin DONG ; Yuan-hong LIAO ; Yue-wu WANG
Chinese Traditional Patent Medicine 2025;47(9):2834-2840
AIM To establish an HPLC-MS/MS method for the simultaneous content determination of dehydrodiisoeugenol,eugenol,costiolactone,dehydrocostiolactone,quercetin,isorhamnetin,luteolin,caffeic acid,gallic acid,protocatechuic acid,ellagic acid and kaempferol in Anshen Buxin Liuwei Pills,and to make chemical pattern recognition.METHODS The analysis was performed on a 35 ℃ thermostatic Shim-pack GST-HP C18 column(2.1 mm × 100 mm,3 μm),with the mobile phase comprising of methanol-water(containing 0.1%formic acid)flowing at 0.25 mL/min in a gradient elution manner,and electron spray ionization source was adopted in positive and negative ion scanning with multiple reaction monitoring mode.Subsequently,cluster analysis,principal component analysis and orthogonal partial least square-discriminant analysis were performed.RESULTS Twelve constituents showed good linear relationships within their own ranges(r≥0.999 0),whose average recoveries were 95.38%-105.00%with the RSDs of 1.91%-5.14%.Thirteen batches of samples were clustered into 3 types,ellagic acid,dehydrocodenolactone,dehydrodiisoeugenol,protocatechuic acid,gallic acid,quercetin and kaempferol were taken as potential quality differential markers.CONCLUSION This accurate,sensitive,stable and reproducible method can be used for the quality control and evaluation of Anshen Buxin Liuwei Pills.
8.Study on the relationship between parenting styles of toddlers aged 30 months and attention deficit hyperactivity disorder symptom trajectories in preschool children
Han LI ; Juan TONG ; Xing WANG ; Shuangqin YAN ; Kun HUANG ; Xiaoyan WU ; Shuman TAO ; Beibei ZHU ; Hui GAO ; Fangbiao TAO
Chinese Journal of Epidemiology 2025;46(4):709-716
Objective:To explore the relationship between parenting styles of toddlers aged 30 months and attention deficit hyperactivity disorder (ADHD) symptom trajectories in preschool children.Methods:The subjects were 2 111 children and their parents in Ma'anshan Birth Cohort. Parenting styles were assessed at 30 months of age using the Brief Toddler Parenting Style Questionnaire, which defines parenting styles on four dimensions: warmth and interaction, attention and acceptance, outdoor and social activities, and neglect and restrictions. The Chinese version of the Conners Abbreviated Symptom Questionnaire was used to examine preschooler's ADHD symptoms aged 3, 5, and 6 years. ADHD symptom trajectories were fitted using group-based trajectory modeling. The multinomial logistic regression model was used to evaluate the relationship between parenting styles at 30 months of age and ADHD symptom trajectories in children. The additive and multiplicative models were applied to analyze the interaction effect of negative parenting styles in children's ADHD symptom trajectories.Results:ADHD symptom trajectories in children included the low-score (48.3%), moderate-score (47.7%), and high-score groups (4.0%). After adjusting for the confounding factors, the results of the multinomial logistic regression analysis showed that negative parenting styles of the father/mother were associated with ADHD symptom trajectories in children ( P<0.05). The father/mother's low warmth and interaction (father: OR=2.07,95% CI:1.68-2.54; mother: OR=2.02,95% CI:1.64-2.48), low attention and acceptance (father: OR=1.94,95% CI:1.57-2.39; mother: OR=1.47,95% CI:1.20-1.81), low outdoor and social (father: OR=1.74,95% CI:1.43-2.13; mother: OR=1.60,95% CI:1.32-1.94), and high neglect and restriction (father: OR=2.09,95% CI:1.67-2.62; mother: OR=2.06,95% CI:1.65-2.56) were associated with ADHD symptom moderate-score trajectories compared to the low-score trajectory group, mother's low warmth and interaction, low outdoor and social, and high neglect and restrictions. Statistically significant association was seen in negative parenting styles of fathers with the high-score group. There was a multiplicative interaction for hostile parenting ( P<0.05). The additive interaction results showed that there was a synergistic effect of hostile parenting, which increased the risk of the high-score trajectories of ADHD symptoms in children. Conclusions:Both parents' parenting styles influenced ADHD symptom change the trajectories in preschoolers. Negative parenting styles of the father/mother increase the risk of the moderate-score and high-score trajectories of ADHD symptoms in children. Hostile parenting by both parents has a synergistic impact on the risk of ADHD symptom trajectories in children, and the simultaneous presence of both increases the risk of the high-score trajectory of ADHD symptoms.
9.Exploring the effects of abdominal circumference on setup errors in colorectal cancer radiotherapy using CBCT-guided techniques
Di WU ; Tao XUE ; Kun LI ; Heng ZHANG ; Huaqing WANG ; Hui WANG
Chinese Journal of Medical Physics 2025;42(7):872-877
Objective By establishing a model to screen out patients with potentially large positional deviations based on their abdominal circumference,personalized solutions can be taken to address setup errors in these patients and ensure treatment efficacy.Methods A total of 81 patients treated at Tianjin People's Hospital from May 2021 to June 2023 were selected as the study subjects.The correlations between setup errors in the lateral,longitudinal,and vertical directions and abdominal circumference were analyzed.Subsequently,linear regression was performed for the direction with a significant correlation to abdominal circumference to establish a linear regression model.Finally,the 81 patients were divided into a normal setup group and an abnormal setup group with 0.7 cm as the critical value.A receiver operating characteristic(ROC)curve was plotted,and the maximum Youden index was calculated to determine the optimal cutoff value for identifying patients prone to abnormal setup.Results The correlation analysis of abdominal circumference and setup errors in various directions showed that the correlation coefficient between abdominal circumference and longitudinal direction positioning error was 0.406 2,and the correlation was statistically significant and positively correlated.The correlation coefficients for abdominal circumference and the lateral as well as longitudinal directions were-0.117 5 and-0.067 47,respectively,with P values greater than 0.05,indicating no statistical significance.A linear regression model was established for abdominal circumference and longitudinal direction,and the results showed an R2of 0.165,with a regression coefficient B of 0.008(t=3.951,P<0.01),indicating that the model was well constructed.ROC curve analysis showed an area under the curve of 0.715,with a 95%confidence interval of 0.57-0.86 and a maximum Youden index of 0.478.The corresponding optimal cutoff value was determined to be at 87 cm,with sensitivity at 0.875 and specificity at 0.603.Conclusion The abdominal circumference is significant to diagnose whether the longitudinal setup error is abnormal.Patients with an abdominal circumference greater than 87 cm are more likely to experience abnormal positioning during radiotherapy,which is reflected in the longitudinal setup errors being the largest.It is recommended to provide individualized target area margins for patients with an abdominal circumference greater than 87 cm,or perform daily cone-beam computed tomography to correct setup errors,thereby ensuring target coverage and treatment efficacy.
10.Integrated diagnosis and treatment of peritoneal metastasis in gastric cancer
Bowen LI ; Peng GAO ; Kun FENG ; Guangtao WU ; Xv TONGJIA ; Zhenning WANG
Chinese Journal of Gastrointestinal Surgery 2025;28(5):455-464
The high incidence and mortality rates of gastric cancer pose a significant burden on human health and public health systems. Peritoneal metastasis is one of the main routes of metastasis in gastric cancer, and patients with this condition have poor prognosis. With advancements in medicine and sociology, the concept of integrated medicine emerged in the late 1980s. It emphasizes treating patients as holistic entities, integrating various medical fields multidimensionally, and combining medicine with other fields. This article organizes the management of gastric cancer peritoneal metastasis around the core concept of "Prevention, Screening, Diagnosis, Treatment, and Rehabilitation": Prevention relies on standardized tumor-free surgical techniques and intraoperative interventions. Screening involves early detection of peritoneal metastasis through integrated technologies. Diagnosis combines multiple methods, including laparoscopic exploration with cytological and histopathological examination, imaging studies, peritoneal fluid cytology, and artificial intelligence. Treatment encompasses comprehensive strategies such as intraperitoneal and systemic chemotherapy, cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy, pressurized intraperitoneal aerosolized chemotherapy, dendritic cell vaccines combined with nivolumab, and supportive care for managing ascites, malignant bowel obstruction, and nutritional support. This integrated medical perspective offers new insights into the management of gastric cancer peritoneal metastasis.

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