1.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
Objective:To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene. Methods:From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association′s Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review. Results:18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+ 5.8 kb) were detected in 7 samples, including ABO* A (28+ 5792_5793delCT (1 case) and ABO* B (28+ 5793T>C) located in the GATA binding region; ABO* B (28+ 5808C>T) (1 case) in the E-box region; and ABO* B (28+ 5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO* B (C.98+ 1G>A) and ABO* B (C.204-2A>C). Conclusion:Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
2.Identification of Jr(a-) rare blood type antibodies against anti-Jra: serological and molecular biology analysis and transfusion strategy.
Yunxiang WU ; Hua WANG ; Ruiqing GUO ; Zhicheng LI ; Qing LI ; Dong XIANG ; Yanli JI ; Aijing LI ; Fengyong ZHAO ; Fei WANG ; Jiangtao ZUO ; Yi XU ; Yajun LIANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(2):145-150
OBJECTIVE:
To report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies, and the process of finding and providing compatible blood for the patient.
METHODS:
A patient sent from the Blood Transfusion Department of Shanxi Provincial People's Hospital to Blood Transfusion Technology Research Laboratory of Taiyuan Blood Center in November 2022 was selected for the study. Classical serological methods were used to determine the patient's blood type, screen for unexpected antibodies, identify antibodies, and perform crossmatching. High-frequency antibody identification was carried out using red blood cells treated with various enzymes. Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) and Sanger sequencing. Multiple strategies were employed to address the patient's blood source problem. The study was approved by the Medical Ethics Committee of Taiyuan Blood Center [Ethics No. 2024 Ethics Review No.(2)].
RESULTS:
The patient's blood type was B, RhD positive. Initial screening of the patient's serum with multiple screening cells and antibody identification cells in saline medium was negative, but positive in antiglobulin medium. The patient's serum showed varying reaction intensities with red blood cells treated with different enzymes. MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c.376C>T (p.Gln126Ter) in the ABCG2 gene, resulting in the Jr(a-) phenotype. During family donor selection, the patient's son was found to have a heterozygous variant c.376C>T (p.Gln126Ter), and another heterozygous variant c.421C>A (p.Gln141Lys), which predicted a Jr(a+w) phenotype. Crossmatch tests confirmed the compatibility of blood from the patient's son, which was used to address the urgent blood requirement. Later, rare blood from a Jr(a-) donor from the Guangzhou Blood Center was used for the patient's ongoing treatment, saving the patient's life.
CONCLUSION
Combining classic serological testing with blood group gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.
Humans
;
Blood Grouping and Crossmatching/methods*
;
Blood Group Antigens/immunology*
;
Blood Transfusion
;
Male
;
Isoantibodies/blood*
;
Female
;
Genotype
3.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens.
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
OBJECTIVE:
To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene.
METHODS:
From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association's Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review.
RESULTS:
18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+5.8 kb) were detected in 7 samples, including ABO*A (28+5792_5793delCT (1 case) and ABO*B (28+5793T>C) located in the GATA binding region; ABO*B (28+5808C>T) (1 case) in the E-box region; and ABO*B (28+5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO*B (C.98+1G>A) and ABO*B (C.204-2A>C).
CONCLUSION
Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
ABO Blood-Group System/genetics*
;
Humans
;
Alleles
;
Promoter Regions, Genetic
;
Haplotypes
;
Introns
4.Mechanism of cordycepin improving myocardial tissue and oxidative stress in diabetic cardiomyopathy rats
Dan LI ; Shuping ZUO ; Shoujun ZHANG ; Baoqing XU ; Haigang WU ; Chunmiao LI
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2025;27(4):504-509
Objective To investigate the intervention effect of cordycepin on DCM rats and its reg-ulative effect on of AKT/GSK3β signaling pathway.Methods A total of 80 male SD rats were randomly divided into model group,cordycepin group,AKT inhibitor group and cordycepin+AKT inhibitor group,with 20 rats in each group.After the establishment of DCM model,corre-sponding intervention was given to each group.Another 20 healthy rats served as control group.Cardiac function indicators(LVEF,LVFS,LVESD,LVEDD),levels of IL-6,IL-1β,TNF-α,SOD,GSH-Px and MAD,and expression of AKT/GSK3β signaling pathway related proteins were de-termined and compared among the groups blotting.Results The model group had significantly lower LVEF and LVFS,decreased myocardial SOD and GSH-Px contents,and declined p-AKT/AKT and p-GSK3β/GSK3β,but increased LVESD and LVEDD and myocardial IL-6,IL-1β,TNF-αand MAD expression levels when compared with the control group(P<0.05).Cordycepin treat-ment obtained increased LVEF and LVFS and myocardial tissue SOD,GSH-Px,Bcl-2,p-AKT/AKT and p-GSK3β/GSK3β protein expressions,and decreased LVESD and LVEDD and myocar-dial expression of IL-6,IL-1β,TNF-α,MAD and Bax than the model group(P<0.05),while AKT inhibitor reversed all the changes induced by modelling(P<0.05).Combination of cordycepin+AKT inhibitor resulted in lower LVEF,LVFS and myocardial SOD,GSH-Px,Bcl-2,p-AKT/AKT,p-GSK3β/GSK3β protein levels,and increased LVESD,LVEDD and expressions of IL-6,IL-1β,TNF-α,MAD and Bax protein in myocardial tissue when compared with cordycepin group(P<0.05).And the combination also resulted in increases in LVEF and LVFS[(61.29±5.61)%vs(39.28±4.12)%,(39.05±3.43)%vs(24.47±2.73)%,P<0.05]and decreases in LVESD and LVEDD(4.36±0.48 mm vs 6.97±0.69 mm,6.07±0.61 mm vs 9.02±0.85mm,P<0.05)when compared with AKT inhibitor group.Conclusion Cordycepin improves cardiac function,myocar-dial injury,inflammation and oxidative stress in DCM rats probably by activating AKT/GSK3βsignaling pathway,and inhibits the apoptosis of cardiomyocyte.
5.Combination of CT/MRI LI-RADS With Second-Line Contrast-Enhanced Ultrasound Using Sulfur Hexafluoride or Perfluorobutane for Diagnosing Hepatocellular Carcinoma in High-Risk Patients
Yu LI ; Sheng LI ; Qing LI ; Kai LI ; Jing HAN ; Siyue MAO ; Xiaohong XU ; Zhongzhen SU ; Yanling ZUO ; Shousong XIE ; Hong WEN ; Xuebin ZOU ; Jingxian SHEN ; Lingling LI ; Jianhua ZHOU
Korean Journal of Radiology 2025;26(4):346-359
Objective:
The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB).
Materials and Methods:
This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB.
Results:
In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%).
Conclusion
The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.
6.Combination of CT/MRI LI-RADS With Second-Line Contrast-Enhanced Ultrasound Using Sulfur Hexafluoride or Perfluorobutane for Diagnosing Hepatocellular Carcinoma in High-Risk Patients
Yu LI ; Sheng LI ; Qing LI ; Kai LI ; Jing HAN ; Siyue MAO ; Xiaohong XU ; Zhongzhen SU ; Yanling ZUO ; Shousong XIE ; Hong WEN ; Xuebin ZOU ; Jingxian SHEN ; Lingling LI ; Jianhua ZHOU
Korean Journal of Radiology 2025;26(4):346-359
Objective:
The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB).
Materials and Methods:
This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB.
Results:
In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%).
Conclusion
The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.
7.A cohort study on the impact of stressful life events on social activity participation among middle-aged and elderly adults
Yujing ZHANG ; Shanshan LI ; Yuming ZHANG ; Xuchao REN ; Siyi ZUO ; Ziqi ZHANG ; Linyuan CHENG ; Zijie ZHAI ; Pan XU ; Dong LI
Chinese Journal of Behavioral Medicine and Brain Science 2025;34(1):60-65
Objective:To analyze the impact of stressful life events on the social activity participation of middle-aged and elderly adults in China, providing a scientific basis for improving their quality of life.Methods:This study was conducted in January 2024.Data were derived from the China health and retirement longitudinal study (CHARLS) conducted from 2011 to 2020. SPSS 25.0 software was used for statistical analysis.Ordered Logistic regression analysis was employed to explore the association between stressful life events experienced over the past decade and the level of social activity participation, with stratified analysis by age, gender, and place of residence.Results:A total of 10 838 middle-aged and elderly adults were included in this study. The proportions of individuals with no social activity participation, low social activity participation, and high social activity participation were 52.07%(5 643/10 838), 24.21%(2 624/10 838), and 23.72%(2 571/10 838), respectively. After adjusting for sociodemographic characteristics and health-related behaviors, individuals who experienced stressful life events were 15.2% less likely to participate in social activities compared to those who did not ( RR=0.848, 95% CI=0.786-0.915).Stratified analysis revealed that the decrease in the likelihood of social activity participation following stressful life events was significantly greater in urban residents than that in rural residents ( Pinteraction=0.004). Conclusion:Experiencing stressful life events over the past decade may reduce the level of social activity participation among middle-aged and elderly adults. It is recommended to strengthen psychological counseling for this population and encourage active social engagement.
8.Construction and Validation of A Nomogram Risk Prediction Model for In-Stent Restenosis in Superficial Femoral Artery
Xiaoke ZENG ; Yuan LIU ; Hao ZUO ; Ningshan LI ; Yali XU
Chinese Journal of Medical Imaging 2025;33(4):422-427
Purpose To construct and validate a risk prediction model for in-stent restenosis(ISR)nomogram in patients with superficial femoral artery stent implantation.Materials and Methods 150 cases of superficial femoral artery stent implantation patients who were hospitalized in Department of Cardiovascular Surgery of the Second Affiliated Hospital of Army Medical University from February 2016 to November 2022 were retrospectively analyzed.Risk factors for ISR in patients with superficial femoral artery stent implantation were screened using univariate analysis,least absolute shrinkage and selection operator and multifactorial Logistic regression analysis.Nomograms were produced,Bootstrap method was used for internal validation,consistency index was used for model differentiation assessment,and calibration graphs were used for calibration assessment.Results Fifty-five patients(36.7%)with ISR one year after superficial femoral artery stenting were identified.Univariate analysis,least absolute shrinkage and selection operator and Logistic regression showed a history of stroke(OR=9.152,95%CI 2.957-28.322),chronic kidney disease(OR=14.639,95%CI 2.378-90.115),fibrinogen concentration(OR=8.422,95%CI 3.139-22.594),pre-procedural occlusion(OR=3.604,95%CI 1.446-8.981)and calcified plaque(OR=5.167,95%CI 2.044-13.059)were the best predictors of the occurrence of ISR one year post-procedure in patients with stenting of superficial femoral artery.The consistency index of the prediction model was 0.876(95%CI 0.812-0.939),with specificity and sensitivity of 93.6%and 70.9%,respectively;a Brie score of 0.124,and a consistency index after internal validation of the model of 0.859,respectively.Calibration plots showed that the ideal probability curves and the actual probability curves overlapped with each other well.Conclusion The Nomogram risk prediction model of superficial femoral artery stent restenosis constructed in this study has good differentiation and calibration,and is of good value for clinical prediction of ISR in patients with superficial femoral artery stent implantation.
9.Research on ST-T change recognition algorithm based on lead attention network
Liang WEI ; Yun-chi LI ; Jun XIE ; Tong XU ; Feng ZUO ; Yong-qin LI ; Bi-hua CHEN ; Mi HE ; Yu-shun GONG
Chinese Medical Equipment Journal 2025;46(7):1-11
Objective To propose a lead attention network-based ST-T change recognition algorithm to detect ECG ST-T changes accurately.Methods Firstly,heartbeat signals were extracted through R-wave localization,and a 12-lead heartbeat matrix was generated by correlation-based screening and merging to realize data augmentation.Secondly,a lead attention module was constructed by combining depthwise convolution(DWConv)with the channel attention squeeze-and-excitation block(SE-block)structure to perceive the differences in ST-T status among electrocardiogram leads.Thirdly,the mapping output by two independent attention modules was fused and splicing with the original signal residual was carried out,so that attention information extraction and original information transfer were enhanced effectively.Finally,SE-ResNet was used as the backbone network to extract signal features to complete the classification and identification of ST-T changes.To validate the recognition performance of the proposed algorithm for ST-T changes in ECG,the 12-lead ECG data of 97 472 patients containing different ECG rhythms were collected for ablation and comparison experiments at the First Affiliated Hospital of Army Medical University.Results The proposed algorithm achieved an AUC of 0.965 with a sensitivity of 90.51%,specificity of 90.23%,positive predictive value of 89.24%and overall accuracy of 90.36%on an independent test set.Comparative analysis demonstrated superior performance to four benchmark architectures,including VGG16,ResNet18,MobileNetV3-Small and ShuffleNet,in terms of both classification accuracy and computational efficiency.Conclusion The algorithm designed can accurately detect ST-T changes and can be used for wearable ECG automatic analysis to assist in the early warning of cardiovascular diseases in both acute and chronic patients and highland residents.[Chinese Medical Equipment Journal,2025,46(7):1-11]
10.Practical exploration of ethical review in decentralized drug clinical trials
Xu ZUO ; Yingshuo HUANG ; Yue LI ; Lihan XING ; Chunxiu YANG ; Yan CUI
Chinese Medical Ethics 2025;38(1):40-45
ObjectiveTo explore the process and guidelines for ethical review in decentralized drug clinical trials, promote clinical trial progress, and ensure drug development progress. MethodsThe key points of the ethical review were summarized by studying the relevant laws and regulations on decentralized drug clinical trials, analyzing the advantages and challenges of decentralized drug clinical trials, and combining the experience of the ethics committee of the institution in reviewing decentralized drug clinical trials. ResultsRelevant laws and regulations were the basis for the ethical review, and the ethics committee should adopt appropriate review methods based on regulations and hospital ethical standard operating procedures. The ethics committee should focus on the feasibility, applicability, and rationality, the adequacy of informed consent, the protection of rights and interests and privacy of subjects, as well as the qualification and standard operating procedures of electronic platforms for conducting decentralized drug clinical trials. ConclusionDecentralized drug clinical trials are in their early stages and urgently require guidance from relevant laws and regulations. Ethical review is also constantly being refined through exploration. It is necessary to supervise the implementation of responsibilities by all parties, pay attention to the rights and interests of subjects, and gradually promote the implementation of decentralized drug clinical trials.

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