1.Correlation Between the Spinopelvic Parameters and Morphological Characteristics of Pedicle-Facet Joints in Different Lumbar Spondylolisthesis
Baoqiang HE ; Yebo LENG ; Shicai XU ; Yang LI ; Jiajun ZHOU ; Min KANG ; Yehui LIAO ; Minghao TIAN ; Qiang TANG ; Fei MA ; Qing WANG ; Chao TANG ; Dejun ZHONG
Neurospine 2025;22(1):231-242
Objective:
Based on spinopelvic parameters and biomechanical principles, the pedicle-facet joint (PFJ) morphological characteristics of isthmic and degenerative spondylolisthesis were analyzed, and the mechanism of their onset and progression was discussed.
Methods:
This retrospective cross-sectional study included 194 patients with L5 spondylolysis or L5–S1 low-grade isthmic spondylolisthesis (IS group), 172 patients with L4–5 degenerative spondylolisthesis (DS group), and 366 patients with nonlumbar spondylolysis (NL group). The spinopelvic parameters and PFJ morphological parameters of the patients were measured, the differences in these parameters among and within the 3 groups were compared, and the correlations were analyzed.
Results:
Sacral slope (SS) and lumbar lordosis (LL) were the highest in the IS group, the second highest in the DS group, and the lowest in the NL group. Among the 3 groups, the L4 facet joint angle (FJA) was the largest in the IS group, the second largest in the NL group, and the smallest in the DS group. The L4 pedicle-facet joint angle (PFA) was the largest in the DS group, the second largest in the IS group, and the smallest in the NL group. Pearson correlation analysis showed that within each group, SS and LL were negatively correlated with FJA and positively correlated with PFA.
Conclusion
This study found a correlation between the PFJ morphological characteristics of patients with lumbar spondylolisthesis and spinopelvic parameters, suggesting that the morphological characteristics of PFJs may be caused by varying stresses under different spinopelvic morphologies.
2.Comparison of efficacy of anterolateral tibial plateau fracture line and anterior tibial fenestration for the treatment of anterolateral tibial plateau column fracture combined with posterolateral column collapse.
Cheng-Fei MENG ; Guan-Qing WANG ; Cheng LUO ; Xiu-Hua LIU ; Ze-Xi LING
China Journal of Orthopaedics and Traumatology 2025;38(3):265-272
OBJECTIVE:
To compare clinical effect of anterior tibial plateau fracture line and anterior tibial fenestration reduction in treating anterolateral tibial plateau column fracture combined with posterior lateral column collapse.
METHODS:
Fifty-two patients with Schatzker typeⅡ tibial plateau anterolateral column fracture combined with posterolateral column collapse admitted from January 2016 to December 2021 were retrospectively analyzed and divided into two groups according to fracture reduction methods. There were 27 patients in fracture line group, including 19 males and 8 females, aged from 26 to 62 years old with an average of (43.2±11.4) years old;the time from injury to operation ranged from 4 to 8 days with an average of (5.8±1.5) days;treated with reduction and internal fixation via fracture line of lateral platform front. There were 25 patients in fenestrate group, including 13 males and 12 females, aged from 22 to 69 years old with an average of (40.8±11.1) years old;the time from injury to operation ranged from 4 to 8 days with an average of (6.0±1.4) days;treated with tibial fenestration reduction and internal fixation. The amount of bone graft, operation time, fracture healing time and complications were compared between two groups. Posterior slope angle (PSA) and posterior slope angle of the lateral tibial plateau was compared before surgery, 2 days and 6 months after surgery. The knee function was evaluated by Hospital for Speical Surgery (HSS) at 2 days and 6 months after surgery, respectively. Fracture reduction was evaluated by Rasmussen anatomic score of knee joint.
RESULTS:
Both of group were followed up from 12 to 24 months (16.0±3.4) months. No redisplacement of fracture, internal and external inversion deformity of knee joint, or instability of knee joint were found between two groups during follow-up. In fracture line group, 1 patient occurred wound fat liquefaction and 2 patients occurred lower limb intermuscular venous thrombosis occurred. In fenestration group, 1 patient occurred joint stiffness, 1 patient occurred lower limb intermuscular venous thrombosis, and 1 patient occurred superficial wound infection;there were no significant difference in complications between two groups (P>0.05). Bone graft volume, operative time and fracture healing time in fracture line group were (3.6±2.3) cm3, (123.4±18.2) min and (13.8±1.8) weeks, while in feneplast group were (4.8±1.8) cm3, (135.5±22.5) min and (15.2±2.0) weeks, respectively;the difference between two groups was statistically significant (P<0.05). The collapse depth of lateral platform articular surface at 2 days and 6 months after surgery were (0.8±0.1) and (0.9±0.1) mm in fracture line group, which were lower than those in fenestration group (0.9±0.1) and (1.1±0.1) mm, respectively (P<0.05). After 2 days and 6 months, , PSA in fracture line group were (9.4±1.5) ° and (10.1±1.9) °, respectively, which were lower than those in fenestration group (10.5±1.5) ° and (11.3±1.9) ° (P<0.05). Rasmussen anatomical scores in fracture line group at 2 days and 6 months were 16(16, 18) and 16(14, 16) points, respectively, which were better than those in fenestrated group (16, 16) and 14(14, 16) points (P< 0.05). The collapse depth, PSA and Rasmussen anatomical score between two groups were better than those before surgery (P<0.05). There was no significant difference in HSS score between two groups at 2 days after surgery (P>0.05). At six months after surgery, HSS score in fracture line group (86.7±3.6) was higher than that in fenestration group (84.1±3.91) (P<0.05). HSS score at 6 months after surgery was better than that at 2 days after surgery (P<0.05).
CONCLUSION
Both anterior tibial plateau fracture line and anterior tibial fenestration could be used to treat anterolateral tibial plateau column fracture with posterior lateral column collapse. Compared with fenestration group, transfracture line group had advantages of less intraoperative bone grafting, shorter operative time, shorter fracture healing time, better articular surface reduction effect and better knee functional recovery.
Humans
;
Male
;
Female
;
Middle Aged
;
Tibial Fractures/physiopathology*
;
Adult
;
Fracture Fixation, Internal/methods*
;
Aged
;
Retrospective Studies
;
Tibia/injuries*
;
Tibial Plateau Fractures
3.Complications among patients undergoing orthopedic surgery after infection with the SARS-CoV-2 Omicron strain and a preliminary nomogram for predicting patient outcomes.
Liang ZHANG ; Wen-Long GOU ; Ke-Yu LUO ; Jun ZHU ; Yi-Bo GAN ; Xiang YIN ; Jun-Gang PU ; Huai-Jian JIN ; Xian-Qing ZHANG ; Wan-Fei WU ; Zi-Ming WANG ; Yao-Yao LIU ; Yang LI ; Peng LIU
Chinese Journal of Traumatology 2025;28(6):445-453
PURPOSE:
The rate of complications among patients undergoing surgery has increased due to infection with SARS-CoV-2 and other variants of concern. However, Omicron has shown decreased pathogenicity, raising questions about the risk of postoperative complications among patients who are infected with this variant. This study aimed to investigate complications and related factors among patients with recent Omicron infection prior to undergoing orthopedic surgery.
METHODS:
A historical control study was conducted. Data were collected from all patients who underwent surgery during 2 distinct periods: (1) between Dec 12, 2022 and Jan 31, 2023 (COVID-19 positive group), (2) between Dec 12, 2021 and Jan 31, 2022 (COVID-19 negative control group). The patients were at least 18 years old. Patients who received conservative treatment after admission or had high-risk diseases or special circumstances (use of anticoagulants before surgery) were excluded from the study. The study outcomes were the total complication rate and related factors. Binary logistic regression analysis was used to identify related factors, and odds ratio (OR) and 95% confidence interval (CI) were calculated to assess the impact of COVID-19 infection on complications.
RESULTS:
In the analysis, a total of 847 patients who underwent surgery were included, with 275 of these patients testing positive for COVID-19 and 572 testing negative. The COVID-19-positive group had a significantly higher rate of total complications (11.27%) than the control group (4.90%, p < 0.001). After adjusting for relevant factors, the OR was 3.08 (95% CI: 1.45-6.53). Patients who were diagnosed with COVID-19 at 3-4 weeks (OR = 0.20 (95% CI: 0.06-0.59), p = 0.005), 5-6 weeks (OR = 0.16 (95% CI: 0.04-0.59), p = 0.010), or ≥7 weeks (OR = 0.26 (95% CI: 0.06-1.02), p = 0.069) prior to surgery had a lower risk of complications than those who were diagnosed at 0-2 weeks prior to surgery. Seven factors (age, indications for surgery, time of operation, time of COVID-19 diagnosis prior to surgery, C-reactive protein levels, alanine transaminase levels, and aspartate aminotransferase levels) were found to be associated with complications; thus, these factors were used to create a nomogram.
CONCLUSION
Omicron continues to be a significant factor in the incidence of postoperative complications among patients undergoing orthopedic surgery. By identifying the factors associated with these complications, we can determine the optimal surgical timing, provide more accurate prognostic information, and offer appropriate consultation for orthopedic surgery patients who have been infected with Omicron.
Humans
;
COVID-19/complications*
;
Male
;
Female
;
Middle Aged
;
Postoperative Complications/epidemiology*
;
SARS-CoV-2
;
Orthopedic Procedures/adverse effects*
;
Aged
;
Nomograms
;
Adult
;
Retrospective Studies
;
Risk Factors
4.Glucocorticoid Discontinuation in Patients with Rheumatoid Arthritis under Background of Chinese Medicine: Challenges and Potentials Coexist.
Chuan-Hui YAO ; Chi ZHANG ; Meng-Ge SONG ; Cong-Min XIA ; Tian CHANG ; Xie-Li MA ; Wei-Xiang LIU ; Zi-Xia LIU ; Jia-Meng LIU ; Xiao-Po TANG ; Ying LIU ; Jian LIU ; Jiang-Yun PENG ; Dong-Yi HE ; Qing-Chun HUANG ; Ming-Li GAO ; Jian-Ping YU ; Wei LIU ; Jian-Yong ZHANG ; Yue-Lan ZHU ; Xiu-Juan HOU ; Hai-Dong WANG ; Yong-Fei FANG ; Yue WANG ; Yin SU ; Xin-Ping TIAN ; Ai-Ping LYU ; Xun GONG ; Quan JIANG
Chinese journal of integrative medicine 2025;31(7):581-589
OBJECTIVE:
To evaluate the dynamic changes of glucocorticoid (GC) dose and the feasibility of GC discontinuation in rheumatoid arthritis (RA) patients under the background of Chinese medicine (CM).
METHODS:
This multicenter retrospective cohort study included 1,196 RA patients enrolled in the China Rheumatoid Arthritis Registry of Patients with Chinese Medicine (CERTAIN) from September 1, 2019 to December 4, 2023, who initiated GC therapy. Participants were divided into the Western medicine (WM) and integrative medicine (IM, combination of CM and WM) groups based on medication regimen. Follow-up was performed at least every 3 months to assess dynamic changes in GC dose. Changes in GC dose were analyzed by generalized estimator equation, the probability of GC discontinuation was assessed using Kaplan-Meier curve, and predictors of GC discontinuation were analyzed by Cox regression. Patients with <12 months of follow-up were excluded for the sensitivity analysis.
RESULTS:
Among 1,196 patients (85.4% female; median age 56.4 years), 880 (73.6%) received IM. Over a median 12-month follow-up, 34.3% (410 cases) discontinued GC, with significantly higher rates in the IM group (40.8% vs. 16.1% in WM; P<0.05). GC dose declined progressively, with IM patients demonstrating faster reductions (median 3.75 mg vs. 5.00 mg in WM at 12 months; P<0.05). Multivariate Cox analysis identified age <60 years [P<0.001, hazard ratios (HR)=2.142, 95% confidence interval (CI): 1.523-3.012], IM therapy (P=0.001, HR=2.175, 95% CI: 1.369-3.456), baseline GC dose ⩽7.5 mg (P=0.003, HR=1.637, 95% CI: 1.177-2.275), and absence of non-steroidal anti-inflammatory drugs use (P=0.001, HR=2.546, 95% CI: 1.432-4.527) as significant predictors of GC discontinuation. Sensitivity analysis (545 cases) confirmed these findings.
CONCLUSIONS
RA patients receiving CM face difficulties in following guideline-recommended GC discontinuation protocols. IM can promote GC discontinuation and is a promising strategy to reduce GC dependency in RA management. (Trial registration: ClinicalTrials.gov, No. NCT05219214).
Adult
;
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
Arthritis, Rheumatoid/drug therapy*
;
Glucocorticoids/therapeutic use*
;
Medicine, Chinese Traditional
;
Retrospective Studies
5.Expert consensus on reprocessing of medical ultrasound probes
Xi YAO ; Luzeng CHEN ; Anhua WU ; Liubo ZHANG ; Chunyan MA ; Li WANG ; Huixue JIA ; Xun HUANG ; Meng CAI ; Qing ZHANG ; Tao CHEN ; Hongwen FEI ; Yunxi LIU ; Guiqiu CHEN ; Xiaodong GAO ; Xin LI ; Baohua LI ; Guoqing HU ; Ping LIANG ; Liuyi LI
Chinese Journal of Infection Control 2025;24(3):301-307
Medical ultrasound technology is widely used for diagnosis and therapy in clinical practice.Ultrasound probes,which are directly contact with patients,pose a potential risk of pathogen transmission.This expert consen-sus was developed by a multidisciplinary team based on international guidelines,standards in China,and the results of a national survey,aiming to reduce the risk of healthcare-associated infection through standardizing reprocessing of medical ultrasound probes,and formulating consensus recommendations with the Delphi method.The consensus clarifies the reprocessing principles for three types of ultrasound probes of different infection risks:external-use ul-trasound probes,interventional percutaneous ultrasound probes,and internal-use ultrasound probes,puts forward systematic suggestions on the reprocessing standards and disinfection levels of ultrasound probe isolation covers and coupling agents,the reprocessing procedures and methods of ultrasound probes,as well as architectural layout and management of reprocessing,so as to provide a scientific prevention and control framework for ensuring ultrasound diagnosis and therapy safety.
6.Underlying target of bullatine A in treating rheumatoid arthritis based on LiP-SMap drug target proteomics
Hao-hong ZHANG ; Nan-ting ZOU ; Chun-fei ZHANG ; Qing-yan MO ; Ming-qian JU ; Xiao-hong LI ; Shuai LIU ; Mao-kui HUANG ; Hong-yun WANG ; Chun-ping WAN
Chinese Pharmacological Bulletin 2025;41(6):1072-1078
Aim To identify the underlying target of bullatine A(BA)against rheumatoid arthritis(RA)u-sing limited proteolysis-small molecule mapping(LiP-SMap)drug target proteomics and to provide a scientif-ic basis for clinical application of Aconiti brachypodi Radix in the treatment of RA.Methods LiP-SMap drug target proteomics was employed to perform bioin-formatics analysis for comparing and validating the dif-ferential protein expression after BA intervention.A collagen-induced arthritis(CIA)model was estab-lished in DBA/1 mice using bovine type Ⅱ collagen.The mice were then divided into the CIA model group,methotrexate-positive control group(MTX group),and BA groups(10 mg·kg-1 and 20 mg·kg-1)based on their clinical scores.After drug intervention,the thera-peutic efficacy against RA was assessed by joint index scores and foot thickness measurements.Histopatholog-ical changes in the arthritic joints of CIA mice were e-valuated using hematoxylin and eosin(HE)staining.Enzyme-linked immunosorbent assay(ELISA)was employed to detect inflammatory cytokines interleukin-17(IL-17)and total IgG and IgG3 anti-collagen-spe-cific antibodies levels from the serum of CIA mice.Flow cytometry was used to detect the expression levels of intracellular Th17 cells(IL-17+CD4+T cells)and Th1 cells(IFN-γ+CD4+T cells).Fluorescent quanti-tative PCR was performed to detect the expression of genes related to differential proteins.Results The proteomic analysis identified Serpinb1a as a protein with strong binding affinity to BA,and KEGG enrich-ment analysis indicated IL-17 signaling pathway was a crucial pathway of BA in against RA.BA treatment significantly reduced clinical scores and foot thickness,improved local arthritis symptoms in CIA mice,and al-leviated inflammatory cell infiltration into arthritic joints(P<0.05).Differential protein validation re-sults showed that BA had strong affinity with Serpinb1a(-5.92 kJ·mol-1)and downregulated the expres-sion of Serpinb1a mRNA.Furthermore,the administra-tion of BA markedly reduced serum IL-17 A levels from CIA mice,inhibited the expression of intracellular IL-17 A and IFN-γ cytokines in splenic CD4+T cells(P<0.05),and significantly downregulated the transcrip-tional expression of IL-17F(P<0.05).Conclusion BA exhibits therapeutic effects on collagen-induced arthritis,and its mechanism of action may involve the regulation of Serpinb1a and the IL-17 signaling path-way.
7.Simultaneous multi-slice acquisition combined with single-shot echo-planar imaging multi-model diffusion weighted imaging for breast lesions
Yinan SUN ; Jinchao ZHANG ; Andong HE ; Minmin WANG ; Mengxiao LIU ; Qing YANG ; Juan ZHU ; Fei WANG
Chinese Journal of Medical Imaging Technology 2025;41(10):1735-1740
Objective To investigate the feasibility of simultaneous multi-slice(SMS)acquisition combined with single-shot echo-planar imaging(SSEPI)multi-model diffusion weighted imaging(DWI)for breast lesions.Methods Totally 108 cases of breast lesions were retrospectively enrolled and divided into malignant group(n=66)and benign group(n=42)based on pathology.3.0T MR scanner was used to acquire SSEPI and SMS-SSEPI multi-b values DWI,7 derived parameters were obtained through post-processing with mono-exponential,fractional-order calculus(FROC)and continuous-time random walk(CTRW)models.Then the imaging quality and derived parameters of SMS-SSEPI and SSEPI DWI were compared between groups.Spearman correlation analysis was performed to explore the relationships of corresponding parameters between SMS-SSEPI DWI and SSEPI DWI.Diagnostic performance of each parameter for distinguishing malignant and benign lesions was evaluated according to the area under the receiver operating characteristic curve(AUC).Results Background noise score of SMS-SSEPI DWI was lower than that of SSEPI DWI(P<0.05),whereas no significant difference of overall imaging quality,normal anatomical structure depiction,lesion conspicuity,geometric distortion,signal-to-noise ratio(SNR)nor contrast-to-noise ratio(CNR)was found between SMS-SSEPI DWI and SSEPI DWI(all P>0.05).Parameters derived from SMS-SSEPI DWI were all moderately to highly positively correlated with those from SSEPI DWI(rs=0.66-0.98).Malignant lesions exhibited significantly lower apparent diffusion coefficient(ADC),diffusion coefficient based on FROC(DFROC),fractional order derivative in space(βFROC),diffusion coefficient based on CTRW(DCTRW),temporal diffusion heterogeneity index(αCTRW)and spatial diffusion heterogeneity index(βCTRW)values,but higher spatial parameter(μFROC)value than benign lesions(all P<0.05).AUC of SMS-SSEPI DWI derived parameters for differentiating malignant from benign lesions were 0.699-0.900,of those from SSEPI DWI were 0.654-0.887,while in both SMS-SSEPI DWI and SSEPI DWI,DFROC had the highest diagnostic efficacy(AUC=0.900,0.887).Conclusion SMS-SSEPI DWI could be used to effectively differentiate malignant and benign breast lesions.
8.Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury (version 2025)
Kai HUANG ; Lunhao BAI ; Qing BI ; Hong CHEN ; Jiwu CHEN ; Xuesong DAI ; Wenyong FEI ; Weili FU ; Zhizeng GAO ; Lin GUO ; Yinghui HUA ; Jingmin HUANG ; Suizhu HUANG ; Xuan HUANG ; Jian LI ; Qiang LI ; Shuzhen LI ; Yanlin LI ; Yunxia LI ; Zhong LI ; Ning LIU ; Yuqiang LIU ; Wei LU ; Hongbin LYU ; Haile PAN ; Xiaoyun PAN ; Chao QI ; Weiliang SHEN ; Luning SUN ; Jin TANG ; Zimin WANG ; Bide WANG ; Ru WANG ; Shaobai WANG ; Licheng WEI ; Weidong XU ; Yongsheng XU ; Jizhou YANG ; Liang YANG ; Rui YANG ; Hongbo YOU ; Tengbo YU ; Jiakuo YU ; Bing YUE ; Hua ZHANG ; Hui ZHANG ; Qingsong ZHANG ; Xintao ZHANG ; Jiajun ZHAO ; Lilian ZHAO ; Qichun ZHAO ; Song ZHAO ; Jiapeng ZHENG ; Jiang ZHENG ; Zhi ZHENG ; Jingbin ZHOU ; Jinzhong ZHAO
Chinese Journal of Trauma 2025;41(4):325-338
With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.
9.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 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:①The 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. ②MALDI-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. ③Crossmatch 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.
10.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.

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