1.Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements.
Yuanyuan WANG ; Shuzhen FU ; Yong SHEN ; Qingxia XU
Chinese Journal of Medical Genetics 2026;43(4):265-272
OBJECTIVE:
To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.
METHODS:
The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).
RESULTS:
Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.
CONCLUSION
The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
;
Female
;
Male
;
Myeloid-Lymphoid Leukemia Protein/genetics*
;
Histone-Lysine N-Methyltransferase/genetics*
;
Adult
;
Adolescent
;
Chromosomes, Human, Pair 11/genetics*
;
Child
;
Transcriptional Elongation Factors/genetics*
;
Gene Rearrangement
;
Oncogene Proteins, Fusion/genetics*
;
Retrospective Studies
;
Young Adult
;
Middle Aged
;
Prognosis
;
Child, Preschool
;
DNA-Binding Proteins/genetics*
2.Progress of researches on Triatoma rubrofasciata-transmitted trypanosomes
Ziyi WANG ; Yong SHEN ; Lirong HUANG ; Yuanyuan LI ; Di WU ; Qin LIU
Chinese Journal of Schistosomiasis Control 2026;38(2):213-218
Triatoma rubrofasciata is currently the most widely distributed species of Triatoma worldwide, and it is also widespread in southern China. T. rubrofasciata has been proven to transmit Trypanosoma cruzi, and is one of vectors transmitting Chagas disease, which poses a potential risk for transmission of imported Chagas disease in China. Findings from latest studies have shown that T. rubrofasciata naturally infects T. lewisi, T. conorhini, and T. rangeli, which undoubtedly increases significant risks of and challenges to trypanosomiasis control in China. This article briefly describes the species of T. rubrofasciata-transmitted trypanosomes, and summarizes the epidemiological characteristics of trypanosomiasis, so as to provide insights into T. rubrofasciata-transmitted trypanosomiasis surveillance and control, and prevention of trypanosomiasis development and transmission in China.
3.Analysis of the value of day 3 embryo quality in embryo selection for frozen-thawed single blastocyst transfer cycles
Jianrui ZHANG ; Chunyan SHEN ; Yuanyuan WU ; Yanli LIU ; Xin WANG ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(9):910-916
Objective:To investigate the impact of day 3 embryo quality on pregnancy outcomes in frozen-thawed single blastocyst transfer cycles and analyze its value in embryo selection.Methods:A retrospective cohort study was conducted on clinical data from patients undergoing frozen-thawed single blastocyst transfer at the Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University from January 2020 to December 2023. A total of 4 691 cycles of high-quality day 3 embryo (H-D3) group and 2 598 cycles of low-quality day 3 embryo (L-D3) group in the same period were included. Multivariate logistic regression was used to analyze the effects of day 3 embryo quality on clinical pregnancy rate (CPR) and live birth rate (LBR). All the cycles were stratified according to developmental day and quality of blastocyst: 3 920 cycles of high-quality day 5 blastocysts (H-D5), 1 271 cycles of low-quality day 5 blastocysts (L-D5), 834 cycles of H-D6 group and 1 264 cycles of L-D6, the influence of day 3 embryo quality was subsequently analyzed under different conditions.Results:1) Significant differences were observed between H-D3 and L-D3 groups in female age [(31.79±4.42) years vs. (32.28±4.43) years, P<0.001], basal follicle-stimulating hormone levels [6.24 (5.32,7.35) U/L vs. 6.48 (5.42,7.62) U/L, P<0.001], proportion of primary infertility [35.86% (1 682/4 691) vs. 31.99% (831/2 598), P<0.001], proportion of ≥2 prior failed embryo transfer cycles [3.77% (177/4 691) vs. 5.93% (154/2 598), P<0.001], proportion of gonadotropin-releasing hormone agonist/antagonist controlled ovarian hyperstimulation protocol in fresh cycles [93.33% (4 378/4 691) vs. 89.80%(2 333/2 598), P<0.001], embryo cryopreservation duration [3.10 (2.23,7.27) months vs. 3.60 (2.30,15.40) months, P<0.001], proportion of day 5 blastocyst transfers [74.82% (3 510/4 691) vs. 64.70% (1 681/2 598), P<0.001] and proportion of high-quality blastocyst transfers [72.59% (3 405/4 691) vs. 51.92% (1 349/2 598), P<0.001]. No significant differences were found in body mass index, infertility duration, endometrial preparation program or endometrial thickness on transfer day (all P>0.05). 2) Multivariable logistic regression analysis demonstrated that the L-D3 group had significantly lower CPR ( OR=0.837, 95% CI: 0.754-0.929, P<0.001) and LBR ( OR=0.880, 95% CI: 0.794-0.974, P=0.014) compared with the H-D3 group. 3) In H-D5 and L-D5 cycles, L-D3 did not significantly affect CPR ( aOR=0.941, 95% CI: 0.805-1.101, P=0.449; aOR=0.910, 95% CI: 0.724-1.142, P=0.415) or LBR ( aOR=1.034, 95% CI: 0.893-1.196, P=0.657; aOR=0.917, 95% CI: 0.729-1.153, P=0.457). However, in D6-H and D6-L cycles, L-D3 significantly reduced CPR ( aOR=0.732, 95% CI: 0.542-0.987, P=0.041; aOR=0.648, 95% CI: 0.515-0.815, P<0.001) and LBR ( aOR=0.645, 95% CI: 0.479-0.869, P=0.004; aOR=0.670, 95% CI: 0.526-0.854, P=0.001). Conclusion:Day 3 embryo quality significantly impacts both CPR and LBR in frozen-thawed day 6 single blastocyst transfer cycles. This suggests that day 3 embryo quality retains clinical relevance as a selection criterion when prioritizing day 6 blastocysts for transfer.
4.Organoids and Organ-on-Chips:Cutting-Edge Strategies for the Modernization of Chinese Medicine
Xin HAN ; Peiliang SHEN ; Yuemei MA ; Yuanyuan JIA
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(7):847-855
Although significant progress has been made in the modernization of Chinese medicine,the current challenges,inclu-ding inconsistent diagnostic and treatment standards,complex molecular mechanisms,and insufficient safety evidence,have signifi-cantly restricted its modernization process.Microfluidic technology provides a new solution for Chinese medicine research with its ability to precisely control fluids and construct bionic microenvironments.Organoid and organ-on-a-chip technologies use microfluidic tech-nology as carriers to provide technical support for the visualization of Chinese medicine theory,discovery of pharmacological sub-stances,analysis of action mechanisms,and toxicity evaluation through multi-organ interconnection models.These technological break-throughs provide an innovative platform for analyzing Chinese medicine theory,driving Chinese medicine research from empirical analy-sis to systematic and dynamic simulations,providing crucial technical support for Chinese medicine internationalization and precision medicine transformation.
5.From ambiguity to precision: innovations in interstitial cystitis / bladder pain syndrome classification and new concepts in precision treatment
Chinese Journal of Urology 2025;46(9):641-647
Interstitial cystitis / bladder pain syndrome(IC/BPS)is a refractory disease characterized by pelvic pain and lower urinary tract symptoms related to bladder filling. Its etiological mechanism and pathological classification have long been controversial. Recent clinical pathological and genomic evidence indicates that IC and BPS should be precisely diagnosed and treated as independent diseases respectively. IC specifically refers to chronic inflammatory diseases of the bladder with Hunner’s lesion,and its core pathological mechanism involves immune-mediated disruption of the bladder epithelial barrier and imbalance of the local inflammatory microenvironment. BPS,on the other hand,is a functional pain syndrome without obvious organic bladder lesions. Its occurrence and development are mainly related to the interaction of multiple systems such as neurogenic inflammation,central sensitization,and psychological stress. Based on this classification innovation,although the clinical manifestations of these two diseases are similar,clinical diagnosis and treatment need to go through a standardized diagnostic process,accurately distinguish and implement individualized treatment strategies. Meanwhile,it is suggested that IC and BPS be used as independent research subjects for clinical research design to promote the transformation of evidence-based medical evidence into precision treatment plans and ultimately achieve a paradigm innovation from fuzzy diagnosis and treatment to precision medicine.
6.Summary of the best evidence for surgical instrument management strategies in medical institutions
Yuanyuan LIANG ; Xinglian GAO ; Zhangzhang DAI ; Rongchao ZHOU ; Juanjuan HU ; Zengyan WANG ; Jianhui SHEN
Chinese Journal of Nursing 2025;60(8):1005-1012
Objective To retrieve and evaluate the evidence related to surgical instrument management,and to integrate the evidence to provide an evidence-based basis for clinical surgical instrument management practice.Methods Evidence on surgical instrument management,including guidelines,expert consensuses,and clinical decision-making,was systematically searched from domestic and international databases and related websites.The search timeframe was from database construction to 4 November 2024.Literature was screened and evaluated,and the evidence was integrated by 2 researchers.Results A total of 16 papers were included,including 2 systematic evaluations,1 class experimental study,2 clinical decisions,4 expert consensuses,5 guidelines,and 2 evidence summaries,resulting in a total of 33 pieces of evidence in 5 areas,including requirements for surgical instrument management,general principles of surgical instrument handling,logistics and supply chain management of surgical instruments,surgical instrument pre-treatment and cleaning,disinfection,and sterilisation processes,and personnel training.Conclusion This study summarises the best available evidence on the management of surgical instruments in hospitals and provides an evidence-based basis for healthcare professionals to manage surgical instruments,thereby improving the quality and efficiency of surgical instrument disposal.
7.Journal impact evaluation and high-quality development based on CNKI,using Acta Laboratorium Animalis Scientia Sinica and Chinese Journal of Comparative Medicine as examples
Chinese Journal of Comparative Medicine 2025;35(10):162-176
Objective To analyze the influences of Acta Laboratorium Animalis Scientia Sinica and Chinese Journal of Comparative Medicine through China National Knowledge Infrastructure(CNKI)big data,display the current development statuses of the journals,and propose suggestions for their high-quality development.Methods Statistical data were derived from the CNKI,and relevant quantitative data were obtained from the Annual Report on the Impact Factors of Chinese Academic Journals.Indicators of the publication characteristics of the two journals,including citation count,number of funded papers,publication delay,composite total citation frequency,and composite impact factors were evaluated quantitatively from 2021 to 2023 using bibliometric method.Results During the period 2021-2023,the publication scales of the two journals were moderate,the numbers of funded papers were relatively high,the publication delays were relatively long,and there was significant room for improvement in terms of the composite total citation frequencies and impact factors.Conclusions The high-quality development of academic journals should focus on content construction,establishing a pool of manuscripts,strengthening scientific research cooperation,improving brand promotion,applying advanced technologies,carrying out professional writing guidance and training,and conducting regular academic influence evaluations.
8.Investigating the Anti-hepatocellular Carcinoma Mechanism of the Traditional Chinese Medicine Chloranthus fortunei(A.Gray)Solms-Laub.via Network Pharmacology,Molecular Docking Techniques,and Experimental Verification
Xingyu XIAO ; Xiaoli HOU ; Yuanyuan SHEN ; Chunli OU ; Dandan MO ; Xianghua XIA ; Xiaolei ZHOU ; Wenyu ZHANG ; Xiaomei GONG ; Shuo WANG
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(8):2390-2405
Objective To investigate the anti-hepatocellular carcinoma mechanism of Chloranthus fortunei(A.Gray)Solms-Laub.via network pharmacology,molecular docking techniques and in vitro experiments.Methods Chemical composition of Chloranthus fortunei(A.Gray)Solms-Laub.was searched by literature.Swiss Target Prediction was used to find corresponding targets.STRING was used to construct protein-protein interactions network(PPI).DAVID was used to enrich GO analysis and KEGG pathway.AutoDock Vina 1.1.2 and Pymol visualisation was used for docking and validation.Results Chloranthus fortunei(A.Gray)Solms-Laub.had 61 active components,685 targets,and 279 intersections with disease targets.The PPI showed that the main active components were Luteolin,Chloranthalactone C,Shizukanolide H,Esculetin,7-Hydroxycoumarin.The key targets were GAPDH,VEGFA,STAT3,JUN,HSP90AA1,AKT1,CTNNB1,CASP3,and ALB.Biological process(BP)involved protein phosphorylation,signal transduction,regulation of RNA polymerase II promoter transcription,cell proliferation,apoptosis.Cellular component(CC)involved cytoplasm,nucleus,cell membrane,cellular exosome.Molecular function(MF)involves protein binding,ATPase,threonine kinase,protein kinase activity.KEGG involved cancer pathway,metabolic pathway,PI3K-Akt signalling pathway,cancer proteoglycans,lipids and atherosclerosis,cytomegalovirus infection,microRNAs in cancer,human T-cell leukaemia virus type 1,Ras signalling pathway,MAPK signalling pathway.Molecular docking showed that silverweed lactone H had a strong affinity for each of the other target proteins,indicating that this component plays a key role.The results of RT-qPCR assay and WB assay showed that there were significant differences in gene and protein expression levels before and after drug administration.Conclusion The Chinese medicine in Chloranthus fortunei(A.Gray)Solms-Laub.can treat hepatocellular carcinoma through the MAPK pathway,and the main active ingredients have good docking effects with the core target proteins of the disease.
9.Clostridium butyricum affects intestinal barrier of mice with DSS-induced colitis via regulation of endogenous hydrogen sulfide enzymes
Yuanyuan SHEN ; Kai CHENG ; Lixia LI ; Huabo SUN
Chinese Journal of Pathophysiology 2025;41(1):90-96
AIM:To investigate the effect of Clostridium butyricum on the intestinal barrier of mice with dex-tran sodium sulfate(DSS)-induced colitis,and to explore its mechanism related to the regulation of endogenous hydrogen sulfide enzymes.METHODS:Forty male C57BL/6J mice(ten per group)were randomly divided into control group,DSS-induced colitis group,and two groups with different doses(1×1010 CFU/L and 1×1011 CFU/L)of Clostridium butyri-cum.To establish the colitis model,mice were given distilled water containing 3.5%DSS.The mice in Clostridium butyri-cum groups received a 10 mL/kg Clostridium butyricum solution by gastric intubation once per day for 14 d.At the end of the experiment,the disease activity index(DAI)and colon length of the mice from each group were recorded.The colon tissue morphology was determined using HE staining,and qRT-PCR was used to measure the mRNA expression levels of two endogenous hydrogen sulfide enzymes,cystathionine β-synthase(CBS)and cystathionine γ-lyase(CSE),and the mu-cus marker LY6/PLAUR domain containing 8(Lypd8).The protein levels of CSE,CBS and macrophage migration inhibi-tory factor(MIF)in the colon were measured by Western blot.Finally,the expression of tight junction proteins,zonula occludens-1(ZO-1)and occludin,in the colon were evaluated by immunohistochemical staining.RESULTS:Compared with control group,the mice in DSS-induced colitis group had a significant increase in DAI and a decrease in colon length(P<0.05).Furthermore,the DSS-induced colitis mice exhibited loss of colonic mucosal epithelium,disordered crypt ar-rangement,and extensive infiltration of inflammatory cells.Compared with DSS-induced colitis group,both DAI and co-lon shortening were significantly attenuated in the groups with different doses of Clostridium butyricum(P<0.05).The mice in Clostridium butyricum groups also exhibited relatively intact colonic mucosal epithelial structure with reduced in-flammatory cell infiltration and reversed crypt disorder.The mRNA expression of CSE and CBS was significantly de-creased,and the mRNA expression of Lypd8 was significantly increased in the colon(P<0.05).Western blot exhibited down-regulation in the protein expression of CSE,CBS and MIF,whereas immunohistochemical staining showed higher ex-pression of ZO-1 and occludin.CONCLUSION:Clostridium butyricum attenuated DSS-induced colitis in mice,mainly through down-regulating the expression of the endogenous hydrogen sulfide enzymes,CSE and CBS,to promote the intesti-nal mucus barrier and protect the integrity of the intestinal epithelium.
10.Analysis of the value of day 3 embryo quality in embryo selection for frozen-thawed single blastocyst transfer cycles
Jianrui ZHANG ; Chunyan SHEN ; Yuanyuan WU ; Yanli LIU ; Xin WANG ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(9):910-916
Objective:To investigate the impact of day 3 embryo quality on pregnancy outcomes in frozen-thawed single blastocyst transfer cycles and analyze its value in embryo selection.Methods:A retrospective cohort study was conducted on clinical data from patients undergoing frozen-thawed single blastocyst transfer at the Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University from January 2020 to December 2023. A total of 4 691 cycles of high-quality day 3 embryo (H-D3) group and 2 598 cycles of low-quality day 3 embryo (L-D3) group in the same period were included. Multivariate logistic regression was used to analyze the effects of day 3 embryo quality on clinical pregnancy rate (CPR) and live birth rate (LBR). All the cycles were stratified according to developmental day and quality of blastocyst: 3 920 cycles of high-quality day 5 blastocysts (H-D5), 1 271 cycles of low-quality day 5 blastocysts (L-D5), 834 cycles of H-D6 group and 1 264 cycles of L-D6, the influence of day 3 embryo quality was subsequently analyzed under different conditions.Results:1) Significant differences were observed between H-D3 and L-D3 groups in female age [(31.79±4.42) years vs. (32.28±4.43) years, P<0.001], basal follicle-stimulating hormone levels [6.24 (5.32,7.35) U/L vs. 6.48 (5.42,7.62) U/L, P<0.001], proportion of primary infertility [35.86% (1 682/4 691) vs. 31.99% (831/2 598), P<0.001], proportion of ≥2 prior failed embryo transfer cycles [3.77% (177/4 691) vs. 5.93% (154/2 598), P<0.001], proportion of gonadotropin-releasing hormone agonist/antagonist controlled ovarian hyperstimulation protocol in fresh cycles [93.33% (4 378/4 691) vs. 89.80%(2 333/2 598), P<0.001], embryo cryopreservation duration [3.10 (2.23,7.27) months vs. 3.60 (2.30,15.40) months, P<0.001], proportion of day 5 blastocyst transfers [74.82% (3 510/4 691) vs. 64.70% (1 681/2 598), P<0.001] and proportion of high-quality blastocyst transfers [72.59% (3 405/4 691) vs. 51.92% (1 349/2 598), P<0.001]. No significant differences were found in body mass index, infertility duration, endometrial preparation program or endometrial thickness on transfer day (all P>0.05). 2) Multivariable logistic regression analysis demonstrated that the L-D3 group had significantly lower CPR ( OR=0.837, 95% CI: 0.754-0.929, P<0.001) and LBR ( OR=0.880, 95% CI: 0.794-0.974, P=0.014) compared with the H-D3 group. 3) In H-D5 and L-D5 cycles, L-D3 did not significantly affect CPR ( aOR=0.941, 95% CI: 0.805-1.101, P=0.449; aOR=0.910, 95% CI: 0.724-1.142, P=0.415) or LBR ( aOR=1.034, 95% CI: 0.893-1.196, P=0.657; aOR=0.917, 95% CI: 0.729-1.153, P=0.457). However, in D6-H and D6-L cycles, L-D3 significantly reduced CPR ( aOR=0.732, 95% CI: 0.542-0.987, P=0.041; aOR=0.648, 95% CI: 0.515-0.815, P<0.001) and LBR ( aOR=0.645, 95% CI: 0.479-0.869, P=0.004; aOR=0.670, 95% CI: 0.526-0.854, P=0.001). Conclusion:Day 3 embryo quality significantly impacts both CPR and LBR in frozen-thawed day 6 single blastocyst transfer cycles. This suggests that day 3 embryo quality retains clinical relevance as a selection criterion when prioritizing day 6 blastocysts for transfer.

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