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.Effect of mild hypercapnia during the recovery period on the emergence time from total intravenous anesthesia: a randomized controlled trial
Lan LIU ; Xiangde CHEN ; Qingjuan CHEN ; Xiuyi LU ; Lili FANG ; Jinxuan REN ; Yue MING ; Dawei SUN ; Pei CHEN ; Weidong WU ; Lina YU
Korean Journal of Anesthesiology 2025;78(3):215-223
Background:
Intraoperative hypercapnia reduces the time to emergence from volatile anesthetics, but few clinical studies have explored the effect of hypercapnia on the emergence time from intravenous (IV) anesthesia. We investigated the effect of inducing mild hypercapnia during the recovery period on the emergence time after total IV anesthesia (TIVA).
Methods:
Adult patients undergoing transurethral lithotripsy under TIVA were randomly allocated to normocapnia group (end-tidal carbon dioxide [ETCO2] 35–40 mmHg) or mild hypercapnia group (ETCO2 50-55 mmHg) during the recovery period. The primary outcome was the extubation time. The spontaneous breathing-onset time, voluntary eye-opening time, and hemodynamic data were collected. Changes in the cerebral blood flow velocity in the middle cerebral artery were assessed using transcranial Doppler ultrasound.
Results:
In total, 164 patients completed the study. The extubation time was significantly shorter in the mild hypercapnia (13.9 ± 5.9 min, P = 0.024) than in the normocapnia group (16.3 ± 7.6 min). A similar reduction was observed in spontaneous breathing-onset time (P = 0.021) and voluntary eye-opening time (P = 0.008). Multiple linear regression analysis revealed that the adjusted ETCO2 level was a negative predictor of extubation time. Middle cerebral artery blood flow velocity was significantly increased after ETCO2 adjustment for mild hypercapnia, which rapidly returned to baseline, without any adverse reactions, within 20 min after extubation.
Conclusions
Mild hypercapnia during the recovery period significantly reduces the extubation time after TIVA. Increased ETCO2 levels can potentially enhance rapid recovery from IV anesthesia.
3.Effects of long-chain non-coding RNA U73166 on proliferation and invasion of lung cancer cells by targeting miR-618 and its mechanism
Zhenzhen LIU ; Wei LIU ; Lina GUAN ; Nan WU
International Journal of Biomedical Engineering 2025;48(3):264-270
Objective:To analyze the expression of long-chain non-coding RNA U73166 in lung cancer tissues and its relationship with patients′ prognosis, and to explore the effects of silencing U73166 on proliferation and invasion of lung cancer H1299 cells and its regulatory mechanism. Methods:The expression level of U73166 in lung cancer tissues and normal tissues, as well as its correlation with lung cancer patients′ overall survival, were analyzed using the gene expression profiling interactive analysis (GEPIA) database. After culturing, H1299 cells were divided into a control group and a transfection group based on treatment conditions, and were transfected with 25 μmol/L of U73166 negative control and U73166 inhibitor, respectively. The effects of silencing U73166 on the relative expression of U73166 and microRNA-618 ( miR-618) genes in H1299 cells were assessed by real-time reverse transcription-PCR method. A cell counting kit-8 assay was used to evaluate the impact of silencing U73166 on the viability of H1299 cells. A transwell invasion assay was performed to detect the invasive ability of H1299 cells. The Linc2GO database and a dual-luciferase reporter assay were used to predict and verify the binding site between U73166 and miR-618. Western blotting was used to analyze the relative expression of phosphorylated Janus kinase 2 (p-JAK2), phosphorylated signal transducer and activator of transcription 3 (p-STAT3), and phosphorylated signal-transducing adaptor molecule 1 (p-STAM1) in the JAK2/STAT3 signaling pathway to evaluate the effects of silencing U73166 on this pathway in H1299 cells. Data were analyzed by an independent sample t test or one-way analysis of variance. Results:Analysis of the GEPIA database revealed that U73166 relative expression level in lung cancer tissues ( n=383) was significantly higher than that in normal tissues ( n=347) ( P<0.01). The overall survival of lung cancer patients with low U73166 expression [(245±2) months] was longer than that of patients with high U73166 expression [(167±2) months] ( P<0.05). The relative expression of U73166 were 7.81±0.99 in the control group and 1.01±0.26 in the transfection group, respectively, and the relative expression of miR-618 were 1.03±0.20 in the control group and 4.83±1.27 in the transfection group, respectively. Silencing U73166 significantly downregulated its expression ( t=6.66, P<0.01) and upregulated the relative expression of miR-618 ( t=2.96, P<0.01) in H1299 cells. After silencing U73166, the absorbance values of H1299 cells in the transfection group on days 2, 3, 4, and 5 (0.36±0.04, 0.74±0.05, 1.07±0.09, and 1.18±0.10) were significantly lower than those in the control group (0.55±0.03, 1.20±0.08, 1.63±0.07, and 1.90±0.07) ( P<0.05, 0.01). The number of invasive cells in the control and transfection groups were 52.03±6.08 and 19.92±3.78, respectively. There were significantly fewer invasive cells in the transfection group ( t=4.49, P<0.01). After transfection with wild-type U73166, the relative luciferase activity in the miR-618 group (0.32±0.05) was significantly lower than that in the miR-negtive control group (0.96±0.15) ( t=4.02, P<0.01). However, after transfection with mutant U73166, there was no statistically significant difference in relative luciferase activity between the miR-618 group (1.01±0.15) and the miR-negtive control group (1.03±0.11) ( t=0.09, P>0.05). The relative expression of p-JAK2, p-STAT3, and p-STAM1 proteins in the transfection group were 2.08±0.21, 1.36±0.20, and 0.55±0.12, respectively. These values were significantly lower than those in the control group (3.72?±?0.29, 5.56?±?0.19, and 4.38±0.17) (all P<0.01). Conclusions:U73166 is highly expressed in lung cancer tissues and lung cancer cells, and its expression is related to lung cancer patients′ overall survival. Silencing U73166 can target miR-618, which inhibits the proliferation and invasion of H1299 cells.
4.Role of artificial intelligence in medical image analysis.
Lu WANG ; Shimin ZHANG ; Nan XU ; Qianqian HE ; Yuming ZHU ; Zhihui CHANG ; Yanan WU ; Huihan WANG ; Shouliang QI ; Lina ZHANG ; Yu SHI ; Xiujuan QU ; Xin ZHOU ; Jiangdian SONG
Chinese Medical Journal 2025;138(22):2879-2894
With the emergence of deep learning techniques based on convolutional neural networks, artificial intelligence (AI) has driven transformative developments in the field of medical image analysis. Recently, large language models (LLMs) such as ChatGPT have also started to achieve distinction in this domain. Increasing research shows the undeniable role of AI in reshaping various aspects of medical image analysis, including processes such as image enhancement, segmentation, detection in image preprocessing, and postprocessing related to medical diagnosis and prognosis in clinical settings. However, despite the significant progress in AI research, studies investigating the recent advances in AI technology in the aforementioned aspects, the changes in research hotspot trajectories, and the performance of studies in addressing key clinical challenges in this field are limited. This article provides an overview of recent advances in AI for medical image analysis and discusses the methodological profiles, advantages, disadvantages, and future trends of AI technologies.
Artificial Intelligence
;
Humans
;
Image Processing, Computer-Assisted/methods*
;
Neural Networks, Computer
;
Deep Learning
;
Diagnostic Imaging/methods*
5.Effect of mild hypercapnia during the recovery period on the emergence time from total intravenous anesthesia: a randomized controlled trial
Lan LIU ; Xiangde CHEN ; Qingjuan CHEN ; Xiuyi LU ; Lili FANG ; Jinxuan REN ; Yue MING ; Dawei SUN ; Pei CHEN ; Weidong WU ; Lina YU
Korean Journal of Anesthesiology 2025;78(3):215-223
Background:
Intraoperative hypercapnia reduces the time to emergence from volatile anesthetics, but few clinical studies have explored the effect of hypercapnia on the emergence time from intravenous (IV) anesthesia. We investigated the effect of inducing mild hypercapnia during the recovery period on the emergence time after total IV anesthesia (TIVA).
Methods:
Adult patients undergoing transurethral lithotripsy under TIVA were randomly allocated to normocapnia group (end-tidal carbon dioxide [ETCO2] 35–40 mmHg) or mild hypercapnia group (ETCO2 50-55 mmHg) during the recovery period. The primary outcome was the extubation time. The spontaneous breathing-onset time, voluntary eye-opening time, and hemodynamic data were collected. Changes in the cerebral blood flow velocity in the middle cerebral artery were assessed using transcranial Doppler ultrasound.
Results:
In total, 164 patients completed the study. The extubation time was significantly shorter in the mild hypercapnia (13.9 ± 5.9 min, P = 0.024) than in the normocapnia group (16.3 ± 7.6 min). A similar reduction was observed in spontaneous breathing-onset time (P = 0.021) and voluntary eye-opening time (P = 0.008). Multiple linear regression analysis revealed that the adjusted ETCO2 level was a negative predictor of extubation time. Middle cerebral artery blood flow velocity was significantly increased after ETCO2 adjustment for mild hypercapnia, which rapidly returned to baseline, without any adverse reactions, within 20 min after extubation.
Conclusions
Mild hypercapnia during the recovery period significantly reduces the extubation time after TIVA. Increased ETCO2 levels can potentially enhance rapid recovery from IV anesthesia.
6.Mechanism of Hedyotis diffusa-Scutellaria barbata D. Don for treatment of primary liver cancer: analysis with network pharmacology, molecular docking and in vitro validation.
Meng XU ; Lina CHEN ; Jinyu WU ; Lili LIU ; Mei SHI ; Hao ZHOU ; Guoliang ZHANG
Journal of Southern Medical University 2025;45(1):80-89
OBJECTIVES:
To investigate the active ingredients in Hedyotis diffusa-Scutellaria barbata D. Don and the main biological processes and signaling pathways mediating their inhibitory effect on primary hepatocellular carcinoma (HCC).
METHODS:
The core intersecting genes of HCC and the two drugs were screened from TCMSP, Uniport, Genecards, and String databases using Cytoscape software, and GO and KEGG enrichment analyses of the intersecting genes were conducted. Molecular docking between the active ingredients of the drugs and the core genes was carried out using Pubcham, RCSB and Autoduckto to identify the active ingredients with the highest binding energy, whose inhibitory effect on HepG2 cells was verifies using CCK-8 assay, flow cytometry and Western blotting.
RESULTS:
TP53 and ESR1 were identified as the core genes of HCC and the two drugs. GO and KEGG analyses showed that the two genes were mainly involved in regulation of apoptotic signaling pathway, cell population proliferation, methane raft, and protein kinase activity, and participated in the signaling pathways of apoptosis, proteoglycans in cancer, PI3K Akt signaling pathway, and hepatitis B. Molecular docking studies showed that the active ingredients of the drugs could be docked with TP53 and ESR1 genes under natural conditions, and ursolic acid had the highest binding energy to ESR1 (-4.98 kcal/mol). The results of CCK-8 assay, flow cytometry and Western blotting all demonstrated significant inhibitory effect of ursolic acid on HepG2 cells.
CONCLUSIONS
The inhibitory effect of Hedyotis diffusa-scutellariae barbatae on HCC is mediated by multiple active ingredients in the two drugs.
Humans
;
Molecular Docking Simulation
;
Liver Neoplasms/drug therapy*
;
Hep G2 Cells
;
Network Pharmacology
;
Carcinoma, Hepatocellular/drug therapy*
;
Hedyotis/chemistry*
;
Signal Transduction/drug effects*
;
Cell Proliferation/drug effects*
;
Tumor Suppressor Protein p53/metabolism*
;
Apoptosis/drug effects*
;
Estrogen Receptor alpha/metabolism*
;
Drugs, Chinese Herbal/pharmacology*
7.Association Between Obesity-Related Metabolic Indices and Knee Osteoarthritis: A Cross-Sectional Study in Middle-Aged and Older Chinese Adults
Changfa HUANG ; Hao FAN ; Ze WEI ; Jing HAO ; Lijin LIU ; Su LIU ; Zhifa ZHENG ; Fei LIU ; Lina ZHAO ; Zhihong WU
Medical Journal of Peking Union Medical College Hospital 2025;17(1):172-180
To investigate the association between obesity-related metabolic indices and the risk of knee osteoarthritis(KOA) in middle-aged and older Chinese adults(≥45 years) using data from the China Health and Retirement Longitudinal Study(CHARLS). Data from two CHARLS survey waves(2011—2012 and 2015—2016) were analyzed. Obesity indices—including body mass index(BMI), waist circumference(WC), waist-to-height ratio(WHtR), visceral adiposity index(VAI), a body shape index(ABSI), body roundness index(BRI), lipid accumulation product(LAP), conicity index(CI), and Chinese visceral adiposity index(CVAI)-and metabolic indices-triglyceride glucose index(TyG), TyG-BMI, TyG-WC, and TyG-WHtR-were collected. Covariates comprised demographic characteristics, lifestyle factors, and health status. Three multivariate logistic regression models were constructed. Sex-subgroup analyses assessed heterogeneity, and receiver operating characteristic(ROC) curves with area under the curve(AUC) were used to evaluate diagnostic performance. Among 9527 participants, the prevalence of KOA was 9.59%(914/9527). After adjusting for confounders, linear regression revealed significant positive associations between KOA and BMI( BMI, BRI, LAP, TyG-BMI, and TyG-WHtR may serve as auxiliary indicators for KOA risk assessment in middle-aged and older women, but their standalone screening value remains modest. Clinical evaluation and integration with other risk factors are recommended for comprehensive risk stratification.
8.Pathological mechanisms and clinical significance of the association between metabolic syndrome and granulomatous mastitis based on intermingled phlegm-blood stasis theory
Lina Ma ; Jingjing Wu ; Meina Ye ; Yue Zhou ; Yifan Cheng ; Hongfeng Chen
Journal of Traditional Chinese Medical Sciences 2025;2025(4):542-551
ObjectiveTo examine the relationship between metabolic syndrome (MS) and its key components in granulomatous mastitis (GM), we explored potential pathological mechanisms through the lens of traditional Chinese medicine (TCM), particularly the concept of intermingled phlegm-blood stasis.MethodsIn this retrospective study, we enrolled 172 patients with GM and 164 patients with non-inflammatory benign breast masses. Metabolic indicators (waist circumference [WC], blood lipids, etc.), inflammatory markers (C-reactive protein, interleukin-6, tumor necrosis factor-α), and adipose tissue CD68 expression were measured. Logistic regression was used to analyze risk factors and receiver operating characteristic curves were used to evaluate diagnostic efficacy. The correlation between TCM pathogenesis and biomarkers was also examined.ResultsMS prevalence was significantly higher in the GM group than in the controls (26.16% vs. 6.10%, P .001). Multivariate analysis identified abdominal obesity (WC ≥ 80 cm, odds ratio [OR] = 1.065) and low levels of high-density lipoprotein cholesterol (HDL-C; 1.29 mmol/L, OR = 0.066) as independent risk factors for GM (P .001 for both). Among patients with GM, HDL-C levels were inversely correlated with inflammatory markers (r = −0.341 to −0.440), whereas patients with concurrent MS demonstrated greater CD68 macrophage infiltration (P .001). According to TCM, abdominal obesity corresponds to “spleen deficiency with phlegm-dampness accumulation,” and low HDL-C reflects “deficiency of vital qi,” which collectively lead to phlegm-blood stasis obstruction in the mammary collaterals; this aligns with the key MS driving mechanisms of chronic inflammation and immune dysregulation.ConclusionMS promotes GM development through chronic inflammation and immune dysregulation, with abdominal obesity and low HDL-C levels serving as core risk factors. The TCM theory of intermingled phlegm-blood stasis provides a novel interpretation of the metabolic-inflammatory mechanisms underlying GM. Accordingly, we propose phlegm-resolving and blood-activating strategies as potential therapeutic approaches for metabolic–immune axis regulation.
9.Effect of mild hypercapnia during the recovery period on the emergence time from total intravenous anesthesia: a randomized controlled trial
Lan LIU ; Xiangde CHEN ; Qingjuan CHEN ; Xiuyi LU ; Lili FANG ; Jinxuan REN ; Yue MING ; Dawei SUN ; Pei CHEN ; Weidong WU ; Lina YU
Korean Journal of Anesthesiology 2025;78(3):215-223
Background:
Intraoperative hypercapnia reduces the time to emergence from volatile anesthetics, but few clinical studies have explored the effect of hypercapnia on the emergence time from intravenous (IV) anesthesia. We investigated the effect of inducing mild hypercapnia during the recovery period on the emergence time after total IV anesthesia (TIVA).
Methods:
Adult patients undergoing transurethral lithotripsy under TIVA were randomly allocated to normocapnia group (end-tidal carbon dioxide [ETCO2] 35–40 mmHg) or mild hypercapnia group (ETCO2 50-55 mmHg) during the recovery period. The primary outcome was the extubation time. The spontaneous breathing-onset time, voluntary eye-opening time, and hemodynamic data were collected. Changes in the cerebral blood flow velocity in the middle cerebral artery were assessed using transcranial Doppler ultrasound.
Results:
In total, 164 patients completed the study. The extubation time was significantly shorter in the mild hypercapnia (13.9 ± 5.9 min, P = 0.024) than in the normocapnia group (16.3 ± 7.6 min). A similar reduction was observed in spontaneous breathing-onset time (P = 0.021) and voluntary eye-opening time (P = 0.008). Multiple linear regression analysis revealed that the adjusted ETCO2 level was a negative predictor of extubation time. Middle cerebral artery blood flow velocity was significantly increased after ETCO2 adjustment for mild hypercapnia, which rapidly returned to baseline, without any adverse reactions, within 20 min after extubation.
Conclusions
Mild hypercapnia during the recovery period significantly reduces the extubation time after TIVA. Increased ETCO2 levels can potentially enhance rapid recovery from IV anesthesia.
10.Effect of mild hypercapnia during the recovery period on the emergence time from total intravenous anesthesia: a randomized controlled trial
Lan LIU ; Xiangde CHEN ; Qingjuan CHEN ; Xiuyi LU ; Lili FANG ; Jinxuan REN ; Yue MING ; Dawei SUN ; Pei CHEN ; Weidong WU ; Lina YU
Korean Journal of Anesthesiology 2025;78(3):215-223
Background:
Intraoperative hypercapnia reduces the time to emergence from volatile anesthetics, but few clinical studies have explored the effect of hypercapnia on the emergence time from intravenous (IV) anesthesia. We investigated the effect of inducing mild hypercapnia during the recovery period on the emergence time after total IV anesthesia (TIVA).
Methods:
Adult patients undergoing transurethral lithotripsy under TIVA were randomly allocated to normocapnia group (end-tidal carbon dioxide [ETCO2] 35–40 mmHg) or mild hypercapnia group (ETCO2 50-55 mmHg) during the recovery period. The primary outcome was the extubation time. The spontaneous breathing-onset time, voluntary eye-opening time, and hemodynamic data were collected. Changes in the cerebral blood flow velocity in the middle cerebral artery were assessed using transcranial Doppler ultrasound.
Results:
In total, 164 patients completed the study. The extubation time was significantly shorter in the mild hypercapnia (13.9 ± 5.9 min, P = 0.024) than in the normocapnia group (16.3 ± 7.6 min). A similar reduction was observed in spontaneous breathing-onset time (P = 0.021) and voluntary eye-opening time (P = 0.008). Multiple linear regression analysis revealed that the adjusted ETCO2 level was a negative predictor of extubation time. Middle cerebral artery blood flow velocity was significantly increased after ETCO2 adjustment for mild hypercapnia, which rapidly returned to baseline, without any adverse reactions, within 20 min after extubation.
Conclusions
Mild hypercapnia during the recovery period significantly reduces the extubation time after TIVA. Increased ETCO2 levels can potentially enhance rapid recovery from IV anesthesia.


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