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.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.
4.Effects of a patient-family-centered visiting model on caregivers' beliefs and attitudes toward visiting patients with mental disorders
Yufei WU ; Baoping YAN ; Sicong OU ; Hongyan ZHANG ; Yuan ZHANG ; Lina WANG ; Keqing LI
Chinese Mental Health Journal 2025;39(12):1019-1024
Objective:To evaluate the effectiveness of a patient-family-centered visiting model in improving caregivers'beliefs and attitudes toward visiting patients with mental disorders.Methods:A total of 140 caregivers of inpatients diagnosed with mental disorders according to the ICD-10 were randomly assigned to an intervention group(n=71)and a control group(n=69).The intervention group participated a patient-family-centered visiting model for 4 weeks,while the control group followed routine visitation.Caregivers' beliefs and attitudes were assessed using the Beliefs and Attitudes toward Visitation in ICU Questionnaire(BAVIQ)was used to assess the improvement in caregivers' beliefs and attitudes before the intervention and at the end of the 1st,2nd,3rd,and 4th weeks after the intervention.Results:Repeated measures ANOVA showed that the belief score and attitude score of the BAVIQ questionnaire in the intervention group were significantly higher than those in the control group(Ps<0.05)across time points.Chi-square test further confirmed that the improvement in the intervention group were significantly bet-ter than in the control group(Ps<0.05).Conclusion:The patient-family-centered visiting model is more effective than routine visiting model in improving the caregivers' visiting beliefs and attitudes in mental health settings.
5.Application of cardiac MR strain parameters in quantitative evaluation of early left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy
Jiang WU ; Xuan LI ; Lina ZHU ; Xiaoyong HAO
Journal of Practical Radiology 2025;41(6):964-968
Objective To explore the changes in biventricular myocardial strain and the value of strain in evaluating left ventricular function in arrhythmogenic right ventricular cardiomyopathy(ARVC)patients using cardiovascular magnetic resonance feature tracking(CMR-FT)technique.Methods The retrospective study included 25 patients with ARVC and 25 healthy volunteers(control group),who underwent cardiac magnetic resonance(CMR)examination.One-way ANOVA was used to analyze and compare biventricular function parameters,global and local myocardial strain parameters between left ventricular ejection fraction(LVEF)≥50%ARVC,LVEF<50%ARVC and control groups.Diagnostic efficacy of myocardial strain indexes was evaluated by receiver operating characteristic(ROC)curve.Results In the LVEF<50%ARVC group,the global longitudinal strain(GLS),global radial strain(GRS)and global circumferential strain(GCS)in left ventricular were lower than the control group(P<0.05).While only left ventricular GLS,basal longitudinal strain(BLS),and middle longitudinal strain(MLS)were lower in the LVEF 50%ARVC group than in the control group(P<0.05).ROC curve analysis demonstrated that left ventricular strain was an effective mean of discriminating ARVC patients from control group and performed well in equally discriminating the diagnosis of the LVEF≥50%ARVC group from control group.The area under the curve(AUC)for right ventricular GLS,GRS,and GCS were 0.904,0.893,and 0.874,respectively.Conclusion CMR-FT technique is capable of detecting biventricular myocardial strain characteristics and identifying early left ventricular involvement in ARVC patients.
6.Strategies to prevent excessive red blood cells during platelet-rich plasma collection in patients with elevated hematocrit
Lijuan YANG ; Qiang TAN ; Ling WU ; Tao PENG ; Xinyu GAN ; Lina REN ; Xin MA
Chinese Journal of Blood Transfusion 2025;38(12):1747-1751
Objective: For patients with elevated hematocrit (Hct), platelet-rich plasma (PRP) apheresis is prone to red blood cell contamination—commonly referred to as “flushing” or erythrocyte carryover—which compromises product quality and therapeutic efficacy. This study reports two clinicaly derived measures to mitigate this issue. Methods: For 21 patients with Hct ≥53%, intravenous 0.9% sodium chloride infusion before apheresis process (replacement method, n=13) or 0.9% sodium chloride fluids hemodilution within the centrifuge bowl during PRP apheresis process (dilution method, n=8) were given, respectively. The collection time, adverse reactions, and the celluar composition of PRP—including white blood cells, red blood cells, and platelet counts—were recorded and compared. Results: Neither method resulted in visible RBC contamination (“flushing”). The red blood cell counts [(0.021±0.014)×10
/L vs (0.019±0.011)×10
/L, P>0.05], white blood cell counts [(2.258±3.288) ×10
/L vs (0.557 5±1.203) ×10
/L, P>0.05], and platelet counts [(1 140±308.2)×10
/L vs (1 105±309.9)×10
/L, P>0.05] in the PRP products obtained by two methods all met the control standards of PRP. There was no significant difference [(2.268±0.927) vs (2.438±0.762) mL/min, P=0.669 2] between the two methods in terms of the speed of PRP collection. One case of adverse reaction occurred with the fluid replacement method, while no adverse reaction occurred with the dilution method. Conclusion: For patients with elevated Hct, both fluid replacement and dilution methods can effectively prevent RBC contamination during PRP collection, yielding products that meet clinical quality standards.
7.Effects of lncRNA DUXAP8 in lung cancer A549 cells-derived exosomes on lung cancer cell growth and its mechnism
Xiaoshuang HE ; Lina XU ; Mei CUI ; Yu ZHAO ; Bei WANG ; Zheng HUANG ; Yuchao WANG ; Wenyan XIN ; Chao WU
Journal of Jilin University(Medicine Edition) 2025;51(4):958-967
Objective:To discuss the effect of long non-coding RNA(lncRNA)DUXAP8 in exosomes(Exo)derived from the lung cancer A549 cells on the growth and immune escape of the lung cancer cells,and to clarify the mechanism.Methods:The human lung cancer cell line A549 was cultured,and its exosomes were extracted and identified.The A549 cells were treated with PKH67-labeled Exo to observe the uptake of Exo by A549 cells.Real-time fluorescence quantitative PCR(RT-qPCR)method was used to detect the expression level of lncRNA DUXAP8 in A549 cells before and after Exo treatment.The A549 cells were divided into control group(no treatment),Exo group(A549 cells treated with Exo),Exo+sh-NC group(A549 cells treated with Exo and then transfected with sh-NC),and Exo+sh-DUXAP8 group(A549 cells treated with Exo and then transfected with sh-DUXAP8).RT-qPCR method was used to detect the expression level of lncRNA DUXAP8 in A549 cells in various groups;colony formation assay was used to detect the colony formation abilities of the A549 cells in various groups;5-ethynyl-2'-deoxyuridine(EdU)staining method was used to detect the proliferation abilities of the A549 cells in various groups.After co-culturing A549 cells in various groups with human peripheral blood lymphocytes,flow cytometry was used to detect the percentages of activated CD8+T lymphocytes in the human peripheral blood lymphocytes in various groups;3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide(MTT)method was used to detect the killing rates of human peripheral blood lymphocytes on the A549 cells in various groups.Results:The diameter of Exo vesicles was 50-150 nm,and the exosome-specific marker proteins cluster of differentiation 63(CD63),cluster of differentiation 9(CD9),tumor susceptibility gene 101(TSG101),and heat shock protein 70(HSP70)were positively expressed,indicating successful exosome extraction.A549 cells efficiently took up PKH67-labeled Exo.The RT-PCR results showed that compared with A549 cells cultured alone,the expression level of lncRNA DUXAP8 in the A549 cells was increased after treatment with Exo derived from A549 cells(P<0.05).compared with control group,the expression level of lncRNA DUXAP8 in the A549 cells in Exo group was increased(P<0.05);compared with Exo group,the expression level of lncRNA DUXAP8 in the A549 cells in Exo+sh-DUXAP8 group was decreased(P<0.05),while there were no significant difference in the expression level of IncRNA DUXAP8 in the cells in Exo+sh-NC group(P>0.05).The colony formation assay results showed that compared with control group,the number of colony formation of the A549 cells in Exo group was increased(P<0.05);compared with Exo group,the number of colony formation of the A549 cells in Exo+sh-DUXAP8 group was decreased(P<0.05),while there was no significant difference in the number of colony formation of the A549 cells in Exo+sh-NC group(P>0.05).The EdU staining results showed that compared with control group,the EdU-positive rate of the A549 cells in Exo group was increased(P<0.05);compared with Exo group,the EdU-positive rate in A549 cells in Exo+sh-DUXAP8 group was decreased(P<0.05),while there was no significant difference in the EDU-positive rate in the cells in Exo+sh-NC group(P>0.05).The flow cytometry results showed that compared with control group,the percentage of activated CD8+T lymphocytes in the human peripheral blood lymphocytes in Exo group was decreased(P<0.05);compared with Exo group,the percentage of activated CD8+T lymphocytes in the human peripheral blood lymphocytes in Exo+sh-DUXAP8 group was increased(P<0.05),while there was no significant difference in the percentage of activated CD8+T lymphaytes in Exo+sh-NC group(P>0.05).The MTT assay results showed that compared with control group,the killing rate of human peripheral blood lymphocytes on the A549 cells in Exo group was decreased(P<0.05);compared with Exo group,the killing rate of human peripheral blood lymphocytes on A549 cells in Exo+sh-DUXAP8 group was increased(P<0.05),while no significant difference was observed in Exo+sh-NC group(P>0.05).Conclusion:The lncRNA DUXAP8 in exosomes derived from the lung cancer A549 cells promotes the proliferation of lung cancer cells and tumor immune escape.
8.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.
9.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
10.Analysis of serological laboratory characteristics of hepatitis B virus
Liwei LIU ; Lina WU ; Xiaosong QIN
Chinese Journal of Laboratory Medicine 2025;48(4):505-511
Objective:Through the analysis of the detection results of hepatitis B virus (HBV) serological markers in the population admitted to Shengjing Hospital of China Medical University in recent five years, the prevalence and characteristics of HBV infection in our hospital were clarified.Methods:Cross-sectional study was conducted. A total of 1 017 030 patients who underwent HBV serological markers testing in Shengjing Hospital of China Medical University from January 1, 2019 to December 31, 2023 were enrolled as the research objects. The included cases were divided into 14 districts in Liaoning: Shenyang (345 346), Dalian (13 219), Anshan (38 536), Fushun (40 067), Benxi (28 883), Dandong (34 284), Jinzhou (35 827), Yingkou (40 573), Fuxin (30 675), Liaoyang (26 282), Panjin (21 008), Tieling (74 632), Chaoyang (43 858) and Huludao (20 949). The included cases were divided into 7 groups according to age: 0-10 years old (162 457), 11-20 years old (33 657), 21-30 years old (129 791), 31-40 years old (235 378), 41-50 years old (124 925), 51-60 years old (143 361), and≥61 years old (187 461). According to different time points of the implementation of vaccination policies, cases born from January 1, 1992 to December 31, 2023 were divided into three groups: the group from January 1, 1992 to December 31, 2001 (94 194), the group from January 1, 2002 to May 31, 2005 (70 428), and the group from June 1, 2005 to December 31, 2023 (87 057). The general data and HBV serological markers results were collected for statistical analysis. The comparison of intergroup rates was conducted using the Chi-square test, and the trend test was conducted using the Cochran Armitage test. Results:In recent five years, the total positivity of serum hepatitis B surface antigen (HBsAg), hepatitis B surface antibody (HBsAb), hepatitis B e antigen (HBeAg), hepatitis B e antibody (HBeAb) and hepatitis B core antibody (HBcAb) were 6.68% (67 938/1 017 030), 51.69% (485 627/939 498), 2.37% (21 961/926 626), 15.00% (138 853/925 759) and 27.86% (257 344/923 703), respectively. According to gender, the total positivity of HBV serological markers in men was significantly higher than that in women, and the difference was statistically significant (HBsAg: χ 2=5 599.286, P<0.001; HBsAb: χ 2=5.065, P=0.024; HBeAg: χ 2=2 451.420, P<0.001; HBeAb: χ 2=1 066.145, P<0.001; HBcAb: χ 2=4 013.618, P<0.001). According to the age group, the peak of HBsAg positivity was mainly distributed in the age group of 41-50 years old, with a positivity of 10.48% (2 864/27 324). The positivity of HBsAb decreased with age.The positivity of HBsAb decreased with age increase, highest in the 0-10 years old group, and a decrese in the 11-20 years old group ( Z=18 915.453, P<0.001). The positivity of HBcAb increased with age ( Z=27 493.853, P<0.001). According to the regional groups, the positivity of HBsAg and HBeAg in Shenyang City were 5.01% (3 996/76 974) and 1.45% (944/69 117) respectively. The positivity of HBsAb in patients from Liaoyang district was the highest [55.89% (3 362/6 150)]. The highest positivity of HBeAb and HBcAb were in patients from Dandong district, 19.90% (3 362/6 150) and 37.37% (3 119/8 680) respectively. According to the different time points of the implementation of the vaccination policies, the positivity of HBsAg in cases born from June 1, 2005 and December 31, 2023 decreased to 0.30% (259/87 057) compared with cases born before this time point (χ 2=5 777.47, P<0.001). Conclusions:The analysis of HBV serological laboratory characteristics showed that the positivity of contagious HBV serological markers was still high. The positivity of male was higher than that of female. HBsAb levels decreased significantly in the 11-20 years old group, suggesting the necessity to strengthen hepatitis B prevention in this age group. There were regional differences in the prevalence of hepatitis B, suggesting the necessity to optimize and improve HBV prevention and control strategies.

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