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.Construction and validation of a medication deviation prediction model for hospital-to-home transition period in coronary heart disease patients with initial treatment
Yushuang LI ; Shu LI ; Qianying ZHANG ; Yan HUANG ; Kun LIU ; Xiulin GU ; Huanhuan JIANG
China Pharmacy 2026;37(4):491-496
OBJECTIVE To develope a predictive model for medication deviation risks during the hospital-to-home transition period in coronary heart disease (CHD) patients with initial treatment, aiming to assist medical staff in rapidly identifying high-risk groups for medication deviation. METHODS A total of 462 CHD patients with initial treatment from the Affiliated Hospital of North China University of Science and Technology (hereinafter referred to as “our hospital”) between January and July 2024 were enrolled. The patients were randomly divided into a modeling group and an internal validation group. The modeling group was further categorized into a medication deviation group and a non-medication deviation group based on whether medication deviations occurred. Similarly, 57 CHD patients with initial treatment from the cardiology department of our hospital between June and September 2025 were collected as an external validation group. Univariate analysis was used to screen predictive factors, followed by multivariate Logistic regression to construct the predictive model. Internal validation methods were employed to evaluate model performance, while external validation methods were used to test the model’s generalizability. RESULTS The 462 patients were divided into a modeling group (319 cases) and an internal validation group (143 cases). In the modeling group, the medication deviation group (192 cases, 60.19%) and the non-medication deviation group (127 cases, 39.81%) were identified. Multivariate Logistic regression analysis revealed that age, medication type, medication adherence, and self-efficacy in rational medication use were predictive factors for medication deviations in CHD patients with initial treatment ( P <0.05). The predictive model equation was logit P =ln[ P /(1- P ) ] =1.321+1.732×age+4.091×medication type -4.360×medication adherence -3.081×self-efficacy in rational medication use. The model demonstrated good discrimination, with a Hosmer-Lemeshow goodness-of-fit test P -value of 0.439, an area under the receiver operating characteristic curve (AUC) of 0.870, sensitivity of 0.970, and specificity of 0.607. A risk nomogram with a total score of 350 points and a cutoff value of 110 points was plotted. The internal validation group showed an AUC o f 0.787 and a prediction accuracy of 77.6%, while the external validation group exhibited an AUC of 0.802 and a prediction accuracy of 73.7%. CONCLUSIONS This study successfully developed a predictive model for medication deviation risks during the hospital-to-home transition period in CHD patients with initial treatment. The model demonstrates excellent discrimination and predictive accuracy, effectively identifying high-risk populations for medication deviations. Age (>70 years), number of drug types≥5, poor medication adherence, and poor self-efficacy in rational medication use are independent risk factors for medication deviations.
3.Predictive modle for violence risk in hospitalized schizophrenia patients based on support vector machine
Huan LIU ; Peifang SHI ; Kun ZHANG ; Li KANG ; Yan ZHANG ; Long NA ; Binhong WANG ; Meiqing HE
Sichuan Mental Health 2026;39(1):27-35
BackgroundThe violent aggressive behaviors of patients with schizophrenia usually have the characteristics of suddenness, unpredictability, high severity, and great difficulty in prevention. Early identification and accurate assessment of their risk of violent aggression have significant clinical significance. ObjectiveTo construct a predictive model for the violence risk in hospitalized patients with schizophrenia, to identify the key factors influencing the occurrence of violent behavior in these patients, so as to provide references for clinical precise quantitative assessment and early intervention. MethodsA total of 200 patients with schizophrenia who were hospitalized at Taiyuan Psychiatric Hospital from March 2022 to September 2024 and met the diagnostic criteria of the International Classification of Diseases, eleventh edition (ICD-11) were collected to form the modeling cohort. They were randomly divided into a training set (n=140) and a test set (n=60) at a ratio of 7∶3. Based on the least absolute shrinkage and selection operator (LASSO) regression algorithm, the feature variables were screened and dimension-reduced. The support vector machine (SVM) from machine learning was selected for model training and prediction. The discrimination efficacy of the model was evaluated by the area under the receiver operating characteristic (ROC) curve (AUC), accuracy, precision, sensitivity, specificity, F1 value, and Brier value. ResultsLASSO regression screening identified 16 feature variables. Pearson correlation analysis revealed a positive correlation between prior violent behavior frequency and clinical psychiatric symptom scores (r=0.580, P<0.01), a positive correlation between hospitalization compliance and current disease status (r=0.550, P=0.003), and a positive correlation between educational level and family per capita monthly income (r=0.367, P<0.01). The SVM model achieved an AUC of 0.853, accuracy of 0.800, precision of 0.810, sensitivity of 0.895, specificity of 0.636, F1 value of 0.850, and Brier value of 0.168. ConclusionThe SVM model has a relatively high level of applicability and overall predictive performance in the assessment of violent risk in schizophrenia patients, which is helpful for the early identification of violent risks in such patients. [Funded by Specialized Research Project for Enhancing the Competence of Health Professionals in Taiyuan City (number, Y2023006)]
4.Research progress and clinical challenges in immunosuppressive regimens for xenotransplantation
Yu ZHANG ; Kun WANG ; Xuyuan ZHU ; Yuxiang CHEN ; Tao LI ; Xiaojie MA ; Hongtao JIANG
Organ Transplantation 2026;17(1):28-35
As a pivotal strategy to alleviate the shortage of organ donors, xenotransplantation has achieved remarkable advances in both pre-clinical and clinical studies in recent years, driven by continuous optimization of gene modification techniques and immunosuppressive regimens. Nevertheless, clinical translation still confronts formidable challenges, including rejection and heightened infection risks, which severely compromise long-term graft survival. Consequently, the role of immunosuppressive regimens in xenotransplantation has become increasingly prominent. This article summarizes the mechanisms underlying xenogeneic immune rejection, the latest developments in immunosuppressive regimens, cutting-edge strategies for inducing immune tolerance and the major hurdles facing clinical xenotransplantation. It delves into potential optimization strategies and directions for future clinical research, aiming to offer theoretical insights and practical guidance for the safe and effective application of clinical xenotransplantation.
5.Traditional Chinese Medicine Treatment of Chronic Heart Failure Based on AMPK Signaling Pathway
Kun LIAN ; Lichong MENG ; Xueqin WANG ; Yubin ZHANG ; Lin LI ; Xuhui TANG ; Zhixi HU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):139-148
Chronic heart failure (CHF) is a group of complex clinical syndromes caused by abnormal changes in the structure and/or function of the heart due to various reasons, resulting in disorders of ventricular contraction and/or diastole. CHF is a condition where primary diseases such as coronary heart disease, hypertension and pulmonary heart disease recur frequently and persist for a long time, presenting blood stasis in meridians and collaterals, stagnation of water and dampness, and accumulation of Qi in collaterals. Its pathogenesis is complex and may involve myocardial energy metabolism disorders, oxidative stress responses, myocardial cell apoptosis, autophagy, inflammatory responses, etc. According to the theory of restraining hyperactivity to acquire harmony, we believe that under normal circumstances, the adenosine monophosphate-activated protein kinase (AMPK) signaling pathway functions normally, maintaining human physiological activities and energy metabolism. Under pathological conditions, the AMPK signaling pathway is abnormal, causing energy metabolism disorders, inflammatory responses, and myocardial fibrosis. Traditional Chinese medicine (TCM) can regulate the AMPK signaling pathway through multiple mechanisms, targets, and effects, effectively curbing the occurrence and development of CHF. It has gradually become a research hotspot in the prevention and treatment of this disease. Guided by the theory of TCM, our research group, through literature review, summarized the relationship between the AMPK pathway and CHF and reviewed the research progress in the prevention and control of CHF with TCM active ingredients, TCM compound prescriptions, and Chinese patent medicines via regulating the AMPK pathway. The review aims to clarify the mechanism and targets of TCM in the treatment of CHF by regulating the AMPK pathway and guide the clinical treatment and drug development for CHF.
6.Myocardial Metabolomics Reveals Mechanism of Shenfu Injection in Ameliorating Energy Metabolism Remodeling in Rat Model of Chronic Heart Failure
Xinyue NING ; Zhenyu ZHAO ; Mengna ZHANG ; Yang GUO ; Zhijia XIANG ; Kun LIAN ; Zhixi HU ; Lin LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):178-186
ObjectiveTo examine the influences of Shenfu injection on the endogenous metabolic byproducts in the myocardium of the rat model exhibiting chronic heart failure, thus deciphering the therapeutic mechanism of the Qi-reinforcing and Yang-warming method. MethodsSD rats were randomly allocated into a control group and a modeling group. Chronic heart failure with heart-Yang deficiency syndrome in rats was modeled by multi-point subcutaneous injection of isoproterenol, and the rats were fed for 14 days after modeling. The successfully modeled rats were randomized into model, Shenfu injection (6.0 mL·kg-1), and trimetazidine (10 mg·kg-1) groups and treated with corresponding agents for 15 days. The control group and the model group were injected with equal doses of normal saline, and the samples were collected after the intervention was completed. Cardiac color ultrasound was performed. Hematoxylin-eosin (HE) staining was used to observe histopathological morphology, and the serum level of N-terminal pro-brain natriuretic peptide (NT-proBNP) was assessed by enzyme-linked immunosorbent assay (ELISA). The mitochondrial morphological and structural changes of cardiomyocytes were observed by transmission electron microscopy, and the metabolic profiling was carried out by ultra high performance liquid chromatography-quantitative exactive-mass spectrometry (UHPLC-QE-MS). Differential metabolites were screened and identified by orthogonal partial least squares-discriminant analysis (OPLS-DA) and other methods, and then the MetaboAnalyst database was used for further screening. The relevant biological pathways were obtained through pathway enrichment analysis. The receiver operating characteristic (ROC) curve was established to evaluate the diagnostic value of each potential biomarker for myocardial injury and the evaluation value for drug efficacy. ResultsThe results of color ultrasound showed that Shenfu Injection improved the cardiac function indexes of model rats (P<0.05). The results of HE staining showed that Shenfu injection effectively alleviated the pathological phenomena such as myocardial tissue structure disorder and inflammatory cell infiltration in model rats. The results of ELISA showed that Shenfu injection effectively regulated the serum NT-proBNP level in the model rats. Transmission electron microscopy (TEM) showed that Shenfu injection effectively restored the mitochondrial morphological structure. The results of metabolomics showed that the metabolic phenotypes of myocardial samples presented markedly differences between groups. Nine differential metabolites could be significantly reversed in the Shenfu injection group, involving three metabolic pathways: pyruvate metabolism, histidine metabolism, and citric acid cycle (TCA cycle). The results of ROC analysis showed that the area under the curve (AUC) values of all metabolites were between 0.75 and 1.0, indicating that the differential metabolites had high diagnostic accuracy for myocardial injury, and the changes in their expression levels could be used as potential markers for efficacy evaluation. ConclusionShenfu injection significantly alleviated the damage of cardiac function, myocardium, and mitochondrial structure in the rat model of chronic heart failure with heart-Yang deficiency syndrome by ameliorating energy metabolism remodeling. Reinforcing Qi and warming Yang is a key method for treating chronic heart failure with heart-Yang deficiency syndrome.
7.Establishment of a new predictive model for esophagogastric variceal rebleeding in liver cirrhosis based on clinical features
Wen GUO ; Xuyulin YANG ; Run GAO ; Yaxin CHEN ; Kun YIN ; Qian LI ; Manli CUI ; Mingxin ZHANG
Journal of Clinical Hepatology 2026;42(1):101-110
ObjectiveTo establish a new noninvasive, simple, and convenient clinical predictive model by identifying independent predictive factors for rebleeding after endoscopic therapy in cirrhotic patients with esophagogastric variceal bleeding (EGVB), and to provide a basis for individualized risk assessment and development of clinical intervention strategies. MethodsCirrhotic patients with EGVB who were diagnosed and treated in The First Affiliated Hospital of Xi’an Medical University from September 2018 to October 2023 were enrolled as subjects, and according to whether the patient experienced rebleeding within 1 year after endoscopic therapy, they were divided into rebleeding group with 93 patients and non-rebleeding group with 84 patients. Clinical data were collected and analyzed. The independent samples t-test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test was used for comparison of categorical data between two groups. A Logistic model was established based on the results of the univariate and multivariate analyses, and the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC) were used to assess the accuracy of the model. R software was used to visualize the model by plotting a nomogram, and the Bootstrap method was used for internal validation of the model. ResultsThe multivariate analysis showed that red blood cell count (RBC), cholinesterase (ChE), alkaline phosphatase (ALP), albumin (Alb), thrombin time (TT), portal vein trunk diameter, sequential therapy, and primary prevention were independent predictive factors for rebleeding. Based on the results of the multivariate analysis, a logistic model was established as logit(P)=-0.805-1.978×(RBC)+0.001×(ChE)-0.020×(ALP)-0.314×(Alb)+0.567×(TT)+0.428×(portal vein trunk diameter)-2.303×[sequential therapy (yes=1, no=0)]-2.368×[primary prevention (yes=1, no=0)]. The logistic model (AUC=0.928, 95% confidence interval [CI]: 0.893—0.964, P<0.001) had a better performance in predicting rebleeding than MELD score (AUC=0.603, 95%CI: 0.520—0.687, P=0.003), Child-Pugh class (AUC=0.650, 95%CI: 0.578—0.722, P=0.001), and FIB-4 index (AUC=0.587, 95%CI: 0.503—0.671, P=0.045). The model had an optimal cut-off value of 0.607, a sensitivity of 0.817, and a specificity of 0.817. Internal validation confirmed that the model had good predictive performance and accuracy. ConclusionSequential therapy, implementation of primary prevention, an increase in RBC, and an increase in Alb are protective factors against rebleeding, while prolonged TT and widened main portal vein diameter are risk factors. The logistic model based on these independent predictive factors can predict rebleeding and thus holds promise for clinical application.
8.Study on anti-atherosclerosis mechanism of blood components of Guanxin Qiwei tablets based on HPLC-Q-Exactive-MS/MS and network pharmacology
Yuan-hong LIAO ; Jing-kun LU ; Yan NIU ; Jun LI ; Ren BU ; Peng-peng ZHANG ; Yue KANG ; Yue-wu WANG
Acta Pharmaceutica Sinica 2025;60(2):449-458
The analysis presented here is based on the blood components of Guanxin Qiwei tablets, the key anti-atherosclerosis pathway of Guanxin Qiwei tablets was screened by network pharmacology, and the anti-atherosclerosis mechanism of Guanxin Qiwei tablets was clarified and verified by cell experiments. HPLC-Q-Exactive-MS/MS technique was used to analyze the components of Guanxin Qiwei tablets into blood, to determine the precise mass charge ratio of the compounds, and to conduct a comprehensive analysis of the components by using secondary mass spectrometry fragments and literature comparison. Finally, a total of 42 components of Guanxin Qiwei tablets into blood were identified. To better understand the interactions, we employed the Swiss Target Prediction database to predict the associated targets. Atherosclerosis (AS) disease targets were searched in disease databases Genecard, OMIM and Disgent, and 181 intersection targets of disease targets and component targets were obtained by Venny 2.1.0 software. Protein interactions were analyzed by String database. The 32 core targets were selected by Cytscape software. Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed in DAVID database. It was found that the anti-atherosclerosis pathways of Guanxin Qiwei tablets mainly include lipid metabolism and atherosclerosis and AGE-RAGE signaling pathway in diabetic complications and other signal pathways. The core targets and the core compounds were interlinked, and it was found that cryptotanshinone and tanshinone ⅡA in Guanxin Qiwei tablets were well bound to TNF, PPAR
9.Epidural fibrous scar formation in rabbits following autologous ligamentum flavum intervention
Debao ZHANG ; Peng WANG ; Kun LI ; Shaojie ZHANG ; Zhijun LI ; Shuwen LI ; Yimin WU
Chinese Journal of Tissue Engineering Research 2025;29(6):1168-1175
BACKGROUND:It has been proved clinically that adhesion of fibrous scar with the dura mater or nerve root after lumbar operation is an important factor for postoperative symptoms,such as postoperative pain and numbness. OBJECTIVE:To verify the inhibitory effect of autologous ligamentum flavum on the formation of epidural fibrous scar after lumbar surgery and explore the possible molecular biological mechanism. METHODS:Forty-eight Japanese white rabbits(6-8 months old)were randomly divided into three groups:a ligamentum flavum preservation group,a ligamentum flavum non-preservation group,and an autologous fat reposition group.A lumbar laminectomy model was established in all the three groups of rabbits,and rabbit epidural tissues were collected at 3 and 6 weeks after modeling.Hematoxylin-eosin staining was used to observe histological changes and the number and density of fibroblasts,VG staining was used to observe the percentage of collagen fiber area,and immunohistochemistry was used to observe the expression of transforming growth factor β1 and Smad3 proteins. RESULTS AND CONCLUSION:Hematoxylin-eosin staining results revealed that fibroblasts in the ligamentum flavum preservation group were few and loosely arranged,while the cells in the ligamentum flavum non-preservation and autologous fat reposition groups were more numerous and closely arranged.The number density of fibroblasts in the ligamentum flavum preservation group was lower than that in the ligamentum flavum non-preservation and autologous fat reposition groups at 3 and 6 weeks after surgery(P<0.05);however,there was no significant difference between the latter two groups.VG staining results showed that the collagen fibers in the ligamentum flavum preservation group were sparse and distributed unevenly,while a lot of red collagen fibers were gathered in the ligamentum flavum non-preservation and autologous fat reposition groups.The area percentage of collagen fibers in the ligamentum flavum preservation group was lower than that in the ligamentum flavum non-preservation and autologous fat reposition groups at 3 and 6 weeks after surgery(P<0.05),but there was no significant difference between the latter two groups.The results of immunohistochemistry showed that the degree of positive staining of retained histone the ligamentum flavum preservation group was significantly lower than that of the other two groups.The absorbance value of transforming growth factor β1 and Smad3 in the ligamentum flavum preservation group was significantly lower than that in the other two groups at 3 and 6 weeks after surgery(P<0.05),but there was no significant difference between the latter two groups.To conclude,there are different degrees of epidural fibrous scar formation after lumbar surgery.If the ligamentum flavum is preserved,it can help to reduce the number of epidural fibroblasts as well as the formation of collagen fibers,thus reducing the adhesion of the fibrous scar tissue to the dural sac and nerve root.The mechanism is not only a purely mechanical blockade,but also to reduce the formation of epidural fibrous scar by interfering with the transforming growth factor β1/Smad3 signaling pathway.
10.Development and application of a three-dimensional digital visualization system for children's neck acupoints
Xiaojing AO ; Kun LI ; Yuhang LIU ; Xiaoxuan YANG ; Xing WANG ; Zhijun LI ; Xiaoyan REN ; Shaojie ZHANG
Chinese Journal of Tissue Engineering Research 2025;29(9):1834-1840
BACKGROUND:Currently,there have been studies on three-dimensional digitalization and visualization systems for adult acupoints,but there are not many reports on the visualization of pediatric acupoints based on real pediatric digital sectional anatomical datasets. OBJECTIVE:To design and develop a digital three-dimensional visualization system for children's neck acupoints,to provide a basis for acupuncture and moxibustion,meridian and acupoint science teaching,clinical practice,acupuncture manipulation practice,and acupuncture safety research,and to provide a basis for the development of children's acupoint simulation system. METHODS:Based on a real cross-sectional anatomical dataset of pre-school boys,a three-dimensional digital virtual anatomical model of the neck region of children and internal multi-organ three-dimensional reconstruction were completed using PhotoShop 2021 and Digihuman Reconstruction System software.A database of 11 acupoints was compiled,including Fengfu and Fengchi,using the Unity database language.A three-dimensional model of children's neck anatomy,acupoint database,and writing acupuncture operation codes were integrated in Unity3D software.A three-dimensional digital visualization system for children's neck acupoints was successfully created,which integrated simulation acupoint positioning,three-dimensional acupoint anatomy,acupuncture training,clinical teaching,and acupuncture safety research. RESULTS AND CONCLUSION:(1)This study was based on real child specimens.Manual layer by layer segmentation of cross-sectional images was used to ensure the accuracy of the three-dimensional model to the greatest extent possible.The 3D software Digihuman Reconstruction System was utilized to extract and save independent segmentation data.PhotoShop 2021 software was collaborated with to complete dozens of three-dimensional reconstruction anatomical models of the outer skin of the neck and its internal bone structure,cervical spinal cord,blood vessels and nerves,muscles,and ligaments in children.The basic morphology and overall contour integrity verification of each independent structure were completed in MeshLab software.The 3-material research 13.0 software was applied for final fine tuning and anatomical position confirmation,successfully simulating and restoring the true anatomical morphology of the neck of preschool children.(2)Based on and referring to the national standards of the People's Republic of China,a database of commonly used acupoints in children's neck region was collected and organized,including their names,meridians,positioning,local anatomy,needle insertion levels,acupuncture methods,acupuncture accidents and prevention,acupoint indications,and two-dimensional anatomical sectional images.(3)Unity3D software was employed to integrate the three-dimensional model of children's neck,acupuncture simulation operation,and acupoint database,and a three-dimensional digital children's neck acupoint acupuncture visualization system was successfully constructed.The system displayed information on children's neck acupoints,two-dimensional and three-dimensional anatomical structures,and achieved two-dimensional and three-dimensional acupuncture simulation functions and acupuncture safety research functions for children's neck acupoints.Based on the ultra-thin sectional anatomical dataset of real child specimens,the first three-dimensional digital and visualization system for acupoints in the neck region of children had been constructed.Compared with previous acupoint acupuncture systems,it is more in line with the anatomical and morphological development characteristics of Asian children and has high application value in the fields of acupuncture safety research,clinical teaching,and acupuncture simulation training.

Result Analysis
Print
Save
E-mail