1.Serological and molecular genetic study of the Ael/AelB phenotype induced by the c. 575T>C variant in the ABO gene
Yanying DONG ; Qinqin ZUO ; Peixing XU ; Minggang ZHANG ; Xia JIANG ; Zixuan WANG ; Miao WANG ; Gengyuan LIU ; Yi DING ; Tianju WANG ; Junhui QUAN
Chinese Journal of Blood Transfusion 2026;39(7):922-927
Objective: To analyze the serological phenotypes and molecular genetic characteristics of a proband with ABO forward and reverse typing discrepancy and their family members, and to investigate the molecular genetic mechanism underlying the Ael/AelB phenotype caused by the c. 575T>C variant on an ABO
A1.02 background. Methods: Serological testing and adsorption-elution assays were performed for blood group identification of the proband and family members. PCR-SBT, cloning sequencing, and Nanopore third-generation sequencing were used to analyze ABO gene variants and haplotypes. Phyre2 and PyMOL were used to predict the effect of the p. Ile192Thr variant on the structure of glycosyltransferase A (GTA), and plasma GTA activity was evaluated using an in vitro transferase assay. Results: Among thirteen family members, four members showed a serological phenotype consistent with the Ael subtype and one with the AelB subtype. Cloning sequencing and third-generation sequencing confirmed that five family members carried the ABO
A1.02 (c. 575T>C) variant, which co-segregated with the weak A phenotype in the family. Structural modeling suggested that p. Ile192Thr may alter the local spatial conformation and hydrogen-bond interactions of GTA. Plasma GTA activity testing showed markedly reduced GTA activity in the tested individuals. Conclusion: The ABO
A1.02 (c. 575T>C) variant is associated with the Ael/AelB phenotype. The p. Ile192Thr substitution may weaken A antigen expression by altering GTA conformation and reducing enzymatic activity. This study provides additional evidence for the role of this variant in the Ael/AelB phenotype from the perspectives of familial inheritance, full-length haplotype analysis, and functional assessment, which is important for accurate ABO subtype identification and individualized transfusion strategies.
2.Study on transmission characteristics and genetic variation of carbapenem-resistant Klebsiella pneumonia based on whole genome sequencing
Jiachen LI ; Yanying CHEN ; Yanlei GE ; Jinrui HU ; Xiaoli DU ; Jinyue LIU ; Huan XING ; Pengfang GAO ; Xiao HAN ; Yuelong LI ; Yating TANG ; Juan LI ; Zhigang CUI ; Jinhui ZHANG ; Haijian ZHOU ; Aiying DONG
Chinese Journal of Preventive Medicine 2025;59(6):892-900
Objective:To analyze the short-term hospital-based transmission characteristics and gene variation of Carbapenem-Resistant Klebsiella pneumoniae (CRKP) by genome-wide technique to provide evidence for transmission control. Methods:The experimental strain was derived from all the CRKP isolated in Affiliated Hospital of North China University of Science and Technology from October 2022 to December 2023. Strain identification and drug susceptibility were tested with VITEK 2-Compact automatic bacterial identification drug susceptibility analyzer or disk method, and the results were interpreted through whole genome sequencing. The ST type, carbapenem resistance gene, virulence factor, and O serotype of the collected strains were analyzed.Results:Among the 115 strains of CRKP, 94 strains were isolated from the intensive care unit (ICU), accounting for 81.7%, and 21 strains were isolated from the non-intensive care unit (NICU), accounting for 18.3%. The 115 strains of CRKP can be divided into 11 ST types, of which ST11 type was the most (54.8%, 63/115), followed by ST15 type (22.6%, 26/115) and ST5492 type (15.7%, 18/115). Type ST5492 was a new clonal group in the region. The 115 strains of CRKP could be divided into 7 O serotypes, most of which were O2a type(32.2%,37/115), followed by O5 type(30.4%,35/115) and O1 type(27.8%,32/115). The resistance genes of carbapenem antibiotics showed that there were 107 strains carrying the blaKPC-2 gene, one strain with the blaNDM-1 gene, and one strain with both the blaKPC-2 and blaNDM-13 genes. Virulence genes were detected in 55 CRKP strains (47.8%, 55/115), among which six strains detected peg-344, iucA, iroB, rmpA, and rmpA2 virulence genes (5.2%, 6/115). Four virulence genes ( peg-344, iucA, rmpA, and rmpA2) were detected in 34 strains (29.6%, 34/115). Three virulence genes ( iucA, iroB and rmpA) were detected in two strains (1.7%, 2/115). Three virulence genes ( peg-344, iucA and rmpA) were detected in one strain (0.8%, 1/115). IucA and rmpA virulence genes were detected in 12 strains (10.4%, 12/115). KPC-2_ST11_O2a, KPC-2_ST15_O1 and KPC-2_ST5492_O5 were dominant clones, and their distribution was mainly in the intensive care unit. The whole genome sequence analysis showed that there were three dominant clones, among which ST11 clones were subdivided into three dominant O serotypes, all of which were mainly in the intensive care unit. Conclusion:The popular strain in the hospital of CRKP is a KPC-2_ST11 clone group carrying iucA, rmpA/rmpA2, with cross-department transmission and mutation. ST5492 is a newly-launched clone type. The intensive care unit of hvKP carrying five virulence genes, including peg-344, should be alert to the epidemic risk of CR-hvKP outbreak.
3.Correlation of bone mineral density, serum TGF- β1, and RBP4 levels with osteoporosis in gestational diabetes mellitus
Yu LIU ; Qing LIU ; Fang WANG ; Na DONG ; Yanying XU
Chinese Journal of Endocrine Surgery 2025;19(2):248-251
Objective:To analyze the correlation of bone mineral density (BMD) , serum transforming growth factor β1 (TGF- β1) , and retinol-binding protein 4 (RBP4) with osteoporosis in gestational diabetes mellitus (GDM) . Methods:A total of 180 GDM patients admitted to Department of Gynecology, Second Hospital of Tianjin Medical University from Jan. 2022 to Jan. 2024 were included as the observation group, and 30 healthy pregnant women undergoing examination at the same time were included into the control group. BMD [stiffness index (SI) , broadband ultrasound attenuation (BUA) , speed of sound (SOS) ], serum TGF-β1, and RBP4 levels were compared between the two groups; GDM women with complicated with osteoporosis were included in the osteoporosis subgroup, and pregnant women without osteoporosis were included in the non-osteoporosis subgroup. BMD, serum TGF- β1 and RBP4 levels were compared between the two groups, and the relationship among bone mineral density and serum TGF- β1, RBP4 was analyzed by Pearson correlation. Receiver operating characteristic curve (ROC) curve was drawn to evaluate the diagnostic value of serum TGF- β1 and RBP4 levels in GDM complicated with osteoporosis. Results:The observation group had significantly higher levels of serum TGF- β1 and RBP4 than the control group, while lower BUA, SOS and SI ( t=99.04, 28.48, 4.10, 3.54, 6.29, P < 0.05) ; Among 180 pregnant women with GDM, 38 cases had osteoporosis and 142 cases did not have osteoporosis. The osteoporosis subgroup had significantly higher serum TGF- β1 and RBP4 levels than the other subgroup, while BMD indexes such as BUA, SOS and SI were significantly lower ( t=3.35, 3.48, 3.77, 2.85, 3.41, P < 0.05) ; Pearson correlation analysis showed that BMD indexes, such as BUA, SOS and SI, were significantly correlated with serum TGF- β1 and RBP4 in pregnant women with GDM ( r=-0.61, 0.58, -0.60, -0.58, -0.60, -0.63, P<0.05) ; The area under the curve (AUC) of TGF- β1, RBP4 and combined detection of GDM women with osteoporosis was 0.572, 0.653 and 0.659, respectively. Conclusions:In GDM women complicated with osteoporosis, the levels of serum TGF- β1 and RBP4 increase significantly, and BMD decreases significantly. Serum TGF- β1 and RBP4 in GDM women are closely related to BMD index, which can provide early diagnosis basis for GDM complicated with osteoporosis.
4.Central nervous system invasive fungal disease in patients with B-cell malignancies treated with zanubrutinib: 3 cases report and literature review
Zhenshuo JIN ; Yuehua HUANG ; Fan YU ; Yi GUO ; Sheng DONG ; Lihong LI ; Yanying WANG
Chinese Journal of Hematology 2025;46(6):575-578
The advent of bruton tyrosine kinase inhibitors (BTKi) has offered more therapeutic choices for patients with B-cell malignancies. However, with its widespread application in recent years, the use of BTKi increases the risk of severe infections in patients. Here, we report three cases of B-cell malignancies, including one case of chronic lymphocytic leukemia and two cases of diffuse large B-cell lymphoma. During treatment with BTKi zanubrutinib, different degrees of invasive fungal disease (IFD) of the central nervous system occurred in these patients. All patients fully recovered following antifungal therapy. With a median follow-up of 35 months, all patients remained in a continuous remission state, and none of them had a recurrence of IFD.
5.Expression and clinical significance of non-coding RNA GATA binding protein 6 antisense RNA1 and GATA binding protein 6 messenger RNA in ovarian cancer
Fengzhen CHEN ; Yanying XU ; Na DONG ; Lei TIAN
Chinese Journal of Postgraduates of Medicine 2025;48(11):987-992
Objective:To investigate the expression and clinical significance of non coding RNA GATA binding protein 6 antisense RNA1 (lncRNA GATA6-AS1) and GATA binding protein 6 messenger RNA (GATA6 mRNA) in ovarian cancer.Methods:A prospective study was conducted on 98 patients with ovarian cancer treated at the Second Hospital of Tianjin Medical University, from January 2022 to January 2025, and 98 patients with benign ovarian lesions during the same period were selected as the control group. Real-time quantitative polymerase chain reaction (qPCR) was used to detect the serum and tissue expression levels of lncRNA GATA6-AS1 and GATA6 mRNA in patients with ovarian cancer and benign ovarian lesions. Pearson analysis was performed to assess the correlation between serum lncRNA GATA6-AS1 and GATA6 mRNA levels in patients with ovarian cancer. Receiver operating characteristic (ROC) curves were plotted to analyze the diagnostic value of serum lncRNA GATA6-AS1 and GATA6 mRNA levels in patients with ovarian cancer.Results:Compared with the control group, the serum levels of lncRNA GATA6-AS1 and GATA6 mRNA in the study group were decreased: 0.76 ± 0.18 vs. 1.00 ± 0.22, 0.75 ± 0.19 vs. 1.01 ± 0.21, with statistically significant differences ( P<0.05). Pearson analysis revealed a positive correlation between serum lncRNA GATA6-AS1 and GATA6 mRNA levels in the study group ( r = 0.61, P<0.05). Compared with benign ovarian lesion tissues, the expression levels of lncRNA GATA6-AS1 and GATA6 mRNA in ovarian cancer tissues were reduced: 0.65 ± 0.15 vs. 1.01 ± 0.20, 0.59 ± 0.12 vs. 1.01 ± 0.24, with statistically significant differences ( P<0.05). In serous ovarian cancer tissues, the expression levels of lncRNA GATA6-AS1 and GATA6 mRNA were lower than those in mucinous ovarian cancer tissues: 0.61 ± 0.10 vs. 0.77 ± 0.16, 0.54 ± 0.11 vs. 0.74 ± 0.14, with statistically significant differences ( P<0.05). The expression of lncRNA GATA6-AS1 and GATA6 mRNA in ovarian cancer tissues was associated with tumor size, International Federation of Gynecology and Obstetrics stage, differentiation degree, lymph node metastasis, peritoneal metastasis, and ascites ( P<0.05). The ROC curve indicated that the combined diagnosis of serum lncRNA GATA6-AS1 and GATA6 mRNA for ovarian cancer had an area under the curve (AUC) of 0.905, which was significantly higher than that of lncRNA GATA6-AS1 alone ( Z = 2.45, P = 0.014) and GATA6 mRNA alone ( Z = 2.16, P = 0.031). Conclusions:The lncRNA GATA6-AS1 and GATA6 mRNA in serum and tissue of ovarian cancer patients decrease, showing a positive correlation. The joint of the two has high diagnostic value for ovarian cancer.
6.Correlation of bone mineral density, serum TGF- β1, and RBP4 levels with osteoporosis in gestational diabetes mellitus
Yu LIU ; Qing LIU ; Fang WANG ; Na DONG ; Yanying XU
Chinese Journal of Endocrine Surgery 2025;19(2):248-251
Objective:To analyze the correlation of bone mineral density (BMD) , serum transforming growth factor β1 (TGF- β1) , and retinol-binding protein 4 (RBP4) with osteoporosis in gestational diabetes mellitus (GDM) . Methods:A total of 180 GDM patients admitted to Department of Gynecology, Second Hospital of Tianjin Medical University from Jan. 2022 to Jan. 2024 were included as the observation group, and 30 healthy pregnant women undergoing examination at the same time were included into the control group. BMD [stiffness index (SI) , broadband ultrasound attenuation (BUA) , speed of sound (SOS) ], serum TGF-β1, and RBP4 levels were compared between the two groups; GDM women with complicated with osteoporosis were included in the osteoporosis subgroup, and pregnant women without osteoporosis were included in the non-osteoporosis subgroup. BMD, serum TGF- β1 and RBP4 levels were compared between the two groups, and the relationship among bone mineral density and serum TGF- β1, RBP4 was analyzed by Pearson correlation. Receiver operating characteristic curve (ROC) curve was drawn to evaluate the diagnostic value of serum TGF- β1 and RBP4 levels in GDM complicated with osteoporosis. Results:The observation group had significantly higher levels of serum TGF- β1 and RBP4 than the control group, while lower BUA, SOS and SI ( t=99.04, 28.48, 4.10, 3.54, 6.29, P < 0.05) ; Among 180 pregnant women with GDM, 38 cases had osteoporosis and 142 cases did not have osteoporosis. The osteoporosis subgroup had significantly higher serum TGF- β1 and RBP4 levels than the other subgroup, while BMD indexes such as BUA, SOS and SI were significantly lower ( t=3.35, 3.48, 3.77, 2.85, 3.41, P < 0.05) ; Pearson correlation analysis showed that BMD indexes, such as BUA, SOS and SI, were significantly correlated with serum TGF- β1 and RBP4 in pregnant women with GDM ( r=-0.61, 0.58, -0.60, -0.58, -0.60, -0.63, P<0.05) ; The area under the curve (AUC) of TGF- β1, RBP4 and combined detection of GDM women with osteoporosis was 0.572, 0.653 and 0.659, respectively. Conclusions:In GDM women complicated with osteoporosis, the levels of serum TGF- β1 and RBP4 increase significantly, and BMD decreases significantly. Serum TGF- β1 and RBP4 in GDM women are closely related to BMD index, which can provide early diagnosis basis for GDM complicated with osteoporosis.
7.Study on transmission characteristics and genetic variation of carbapenem-resistant Klebsiella pneumonia based on whole genome sequencing
Jiachen LI ; Yanying CHEN ; Yanlei GE ; Jinrui HU ; Xiaoli DU ; Jinyue LIU ; Huan XING ; Pengfang GAO ; Xiao HAN ; Yuelong LI ; Yating TANG ; Juan LI ; Zhigang CUI ; Jinhui ZHANG ; Haijian ZHOU ; Aiying DONG
Chinese Journal of Preventive Medicine 2025;59(6):892-900
Objective:To analyze the short-term hospital-based transmission characteristics and gene variation of Carbapenem-Resistant Klebsiella pneumoniae (CRKP) by genome-wide technique to provide evidence for transmission control. Methods:The experimental strain was derived from all the CRKP isolated in Affiliated Hospital of North China University of Science and Technology from October 2022 to December 2023. Strain identification and drug susceptibility were tested with VITEK 2-Compact automatic bacterial identification drug susceptibility analyzer or disk method, and the results were interpreted through whole genome sequencing. The ST type, carbapenem resistance gene, virulence factor, and O serotype of the collected strains were analyzed.Results:Among the 115 strains of CRKP, 94 strains were isolated from the intensive care unit (ICU), accounting for 81.7%, and 21 strains were isolated from the non-intensive care unit (NICU), accounting for 18.3%. The 115 strains of CRKP can be divided into 11 ST types, of which ST11 type was the most (54.8%, 63/115), followed by ST15 type (22.6%, 26/115) and ST5492 type (15.7%, 18/115). Type ST5492 was a new clonal group in the region. The 115 strains of CRKP could be divided into 7 O serotypes, most of which were O2a type(32.2%,37/115), followed by O5 type(30.4%,35/115) and O1 type(27.8%,32/115). The resistance genes of carbapenem antibiotics showed that there were 107 strains carrying the blaKPC-2 gene, one strain with the blaNDM-1 gene, and one strain with both the blaKPC-2 and blaNDM-13 genes. Virulence genes were detected in 55 CRKP strains (47.8%, 55/115), among which six strains detected peg-344, iucA, iroB, rmpA, and rmpA2 virulence genes (5.2%, 6/115). Four virulence genes ( peg-344, iucA, rmpA, and rmpA2) were detected in 34 strains (29.6%, 34/115). Three virulence genes ( iucA, iroB and rmpA) were detected in two strains (1.7%, 2/115). Three virulence genes ( peg-344, iucA and rmpA) were detected in one strain (0.8%, 1/115). IucA and rmpA virulence genes were detected in 12 strains (10.4%, 12/115). KPC-2_ST11_O2a, KPC-2_ST15_O1 and KPC-2_ST5492_O5 were dominant clones, and their distribution was mainly in the intensive care unit. The whole genome sequence analysis showed that there were three dominant clones, among which ST11 clones were subdivided into three dominant O serotypes, all of which were mainly in the intensive care unit. Conclusion:The popular strain in the hospital of CRKP is a KPC-2_ST11 clone group carrying iucA, rmpA/rmpA2, with cross-department transmission and mutation. ST5492 is a newly-launched clone type. The intensive care unit of hvKP carrying five virulence genes, including peg-344, should be alert to the epidemic risk of CR-hvKP outbreak.
8.Expression and clinical significance of non-coding RNA GATA binding protein 6 antisense RNA1 and GATA binding protein 6 messenger RNA in ovarian cancer
Fengzhen CHEN ; Yanying XU ; Na DONG ; Lei TIAN
Chinese Journal of Postgraduates of Medicine 2025;48(11):987-992
Objective:To investigate the expression and clinical significance of non coding RNA GATA binding protein 6 antisense RNA1 (lncRNA GATA6-AS1) and GATA binding protein 6 messenger RNA (GATA6 mRNA) in ovarian cancer.Methods:A prospective study was conducted on 98 patients with ovarian cancer treated at the Second Hospital of Tianjin Medical University, from January 2022 to January 2025, and 98 patients with benign ovarian lesions during the same period were selected as the control group. Real-time quantitative polymerase chain reaction (qPCR) was used to detect the serum and tissue expression levels of lncRNA GATA6-AS1 and GATA6 mRNA in patients with ovarian cancer and benign ovarian lesions. Pearson analysis was performed to assess the correlation between serum lncRNA GATA6-AS1 and GATA6 mRNA levels in patients with ovarian cancer. Receiver operating characteristic (ROC) curves were plotted to analyze the diagnostic value of serum lncRNA GATA6-AS1 and GATA6 mRNA levels in patients with ovarian cancer.Results:Compared with the control group, the serum levels of lncRNA GATA6-AS1 and GATA6 mRNA in the study group were decreased: 0.76 ± 0.18 vs. 1.00 ± 0.22, 0.75 ± 0.19 vs. 1.01 ± 0.21, with statistically significant differences ( P<0.05). Pearson analysis revealed a positive correlation between serum lncRNA GATA6-AS1 and GATA6 mRNA levels in the study group ( r = 0.61, P<0.05). Compared with benign ovarian lesion tissues, the expression levels of lncRNA GATA6-AS1 and GATA6 mRNA in ovarian cancer tissues were reduced: 0.65 ± 0.15 vs. 1.01 ± 0.20, 0.59 ± 0.12 vs. 1.01 ± 0.24, with statistically significant differences ( P<0.05). In serous ovarian cancer tissues, the expression levels of lncRNA GATA6-AS1 and GATA6 mRNA were lower than those in mucinous ovarian cancer tissues: 0.61 ± 0.10 vs. 0.77 ± 0.16, 0.54 ± 0.11 vs. 0.74 ± 0.14, with statistically significant differences ( P<0.05). The expression of lncRNA GATA6-AS1 and GATA6 mRNA in ovarian cancer tissues was associated with tumor size, International Federation of Gynecology and Obstetrics stage, differentiation degree, lymph node metastasis, peritoneal metastasis, and ascites ( P<0.05). The ROC curve indicated that the combined diagnosis of serum lncRNA GATA6-AS1 and GATA6 mRNA for ovarian cancer had an area under the curve (AUC) of 0.905, which was significantly higher than that of lncRNA GATA6-AS1 alone ( Z = 2.45, P = 0.014) and GATA6 mRNA alone ( Z = 2.16, P = 0.031). Conclusions:The lncRNA GATA6-AS1 and GATA6 mRNA in serum and tissue of ovarian cancer patients decrease, showing a positive correlation. The joint of the two has high diagnostic value for ovarian cancer.
9.Central nervous system invasive fungal disease in patients with B-cell malignancies treated with zanubrutinib: 3 cases report and literature review
Zhenshuo JIN ; Yuehua HUANG ; Fan YU ; Yi GUO ; Sheng DONG ; Lihong LI ; Yanying WANG
Chinese Journal of Hematology 2025;46(6):575-578
The advent of bruton tyrosine kinase inhibitors (BTKi) has offered more therapeutic choices for patients with B-cell malignancies. However, with its widespread application in recent years, the use of BTKi increases the risk of severe infections in patients. Here, we report three cases of B-cell malignancies, including one case of chronic lymphocytic leukemia and two cases of diffuse large B-cell lymphoma. During treatment with BTKi zanubrutinib, different degrees of invasive fungal disease (IFD) of the central nervous system occurred in these patients. All patients fully recovered following antifungal therapy. With a median follow-up of 35 months, all patients remained in a continuous remission state, and none of them had a recurrence of IFD.
10.Study on Evidence-Based Decision-Making of Acupuncture for Post-Prostatectomy Urinary Incontinence: based on TOPSIS Combined with Entropy Method
Zhiwei DONG ; Junlan WANG ; Tao XIE ; Yanying YE ; Ting LI ; Cong YU ; Ning TIAN
Journal of Traditional Chinese Medicine 2024;65(23):2434-2441
ObjectiveTo screen optimized protocol of acupuncture for post-prostatectomy urinary incontinence (PPUI) patients, and to provide evidence for clinical practice. MethodsMEDLINE, Embase, Cochrane Library, Web of Science, Chinese Biomedical Literature Database, China National Knowledge Infrastructure, WanFang and VIP databases were searched to collect randomized controlled trials of acupuncture for PPUI. The search was conducted from the establishment of the database to February 1, 2024, and the quality of the literature was evaluated to exclude the studies with a high risk of overall bias or modified Jadad <3, and constructed acupuncture protocol and performed meta-analysis. We used International Consultation on Urinary Incontinence Short Form (ICI-Q-SF) scores, quality of life scores, overall effective rate, and modified Jadad scores as beneficial indicators, and the number of acupoints selected, stimulation duration, the number of acupuncture, and the duration of the treatment course as costly indicators, to derive the standardized protocol matrix, and used the entropy method to determine the weights of the different decision-making indicators, and finally combined with the Technique for Order Preference by Similarity to Ideal Solution (TOPSIS) for comprehensive evaluation. ResultsNine studies met the criteria, and the acupuncture treatments involved were constructed as six protocols including electrical acupoint stimulation with low-frequency, electroacupuncture at four acupoints of sacral region, replenishing qi and tonifying kidney acupuncture, body acupuncture plus pelvic floor muscle training, auricular acupuncture, and electroacupuncture plus pelvic floor muscle training. The ICI-Q-SF, number of acupuncture sessions, and total effectiveness rate were given higher weights in the decision-making indexes, while the stimulation duration and the duration of treatment course were given lower weights; the entropy method of TOPSIS was used for the evaluation and proved that the best protocol was the electroacupuncture at four acupoints of sacral region which used continuous-wave electroacupuncture with a frequency of 2 Hz for 60 min each time, and required the needle sensation to radiate to the root of the penis, with the advantages of streamlined selection of acupoints, a significant reduction in ICI-Q-SF, and an increase in the effectiveness rate. ConclusionThe final optimized protocol was electroacupuncture at four acupoints of sacral region, which can provide an evidence-based basis for clinical decision-making and guideline development.

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