1.Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene.
Lihuan SHI ; Shan HUANG ; Xing XIE ; Pengkai FAN ; Haili GAO ; Yanna MAO
Chinese Journal of Medical Genetics 2026;43(2):90-95
OBJECTIVE:
To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene.
METHODS:
A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001).
RESULTS:
Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively.
CONCLUSION
The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans
;
Male
;
Child
;
Female
;
Leukemia, Myeloid, Acute/drug therapy*
;
Oncogene Proteins, Fusion/genetics*
;
Translocation, Genetic
;
Retrospective Studies
;
RNA-Binding Protein FUS/genetics*
;
Chromosomes, Human, Pair 16/genetics*
;
Adolescent
;
Child, Preschool
;
Chromosomes, Human, Pair 21/genetics*
;
Prognosis
;
Treatment Outcome
2.Comparison of Wild and Cultivated Bupleurum scorzonerifolium Based on Traditional Quality Evaluation
Changsheng YUAN ; Feng ZHOU ; Xingyu LIU ; Yu SHI ; Yihan WANG ; Huaizhu LI ; Yongliang LI ; Shan GUAN ; Huaizhong GAO ; Yanmeng LIU ; Zhilai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):203-214
ObjectiveTo characterize the quality differences among different germplasm and introduced varieties of Bupleurum scorzonerifolium roots(BSR), and explore the underlying molecular mechanisms, providing a basis for high-quality production and quality control. MethodsWild BSR from Yulin(YLW) served as the quality reference, we conducted comparative analysis among YLW, locally domesticated wild germplasm in Yulin(YLC3), Daqing germplasm introduced and cultivated in Yulin(YLDQC3), and locally cultivated germplasm in Daqing(DQC3). A combination of traditional pharmacognostic methods and modern multi-omics analyses was employed, including macroscopic traits(appearance, odor), microscopic features(proportions of cork, phloem, xylem), cell wall component contents(hemicellulose, cellulose, lignin), carbohydrate contents(starch, water-soluble polysaccharides), marker compound contents(ethanol-soluble extracts, total saponins, liposoluble extracts, and saikosaponins A, B2, C, D), metabolomics, and transcriptomics, in order to systematically characterize quality differences and investigate molecular mechanisms among these samples. ResultsMacroscopically, Yulin-produced BSR(YLW, YLC3, YLDQC3) exhibited significantly greater weight, length, and upper and middle diameters than Daqing-produced BSR(DQC3). Odor-wise, YLW and YLC3 had a a fragrance taste, YLDQC3 had a rancid oil odor, and DQC3 had a sweet and fragrant taste. Microscopically, Yulin germplasm(YLW, YLC3) and Daqing germplasm(YLDQC3, DQC3) shared similar structural features, respectively. However, Yulin germplasm showed significantly higher proportions of cork and phloem, as well as stronger xylem vessel staining intensity compared to Daqing germplasm. Regarding various component contents, Yulin germplasm contained significantly higher levels of ethanol-soluble extracts, total saponins, and saikosaponins A, B2, C, D, while Daqing germplasm had significantly higher levels of hemicellulose, starch, and liposoluble extracts. After introduction to Yulin, the Daqing germplasm(YLDQC3) showed increased starch, water-soluble polysaccharides and liposoluble extracts contents, decreased cell wall component content, but no significant difference in other component contents. Metabolomics revealed that saponins and terpenes accumulated significantly in Yulin germplasm, while alcohols and aldehydes accumulated predominantly in Daqing germplasm. Transcriptomics indicated similar gene expression patterns within the same germplasm but specificity between different germplasms. Integrative metabolomic-transcriptomic analysis identified 145 potential key genes associated with the saikosaponin biosynthesis pathway, including one acetyl-coenzyme A(CoA) acetyltransferase gene(ACAT), one 3-hydroxy-3-methylglutaryl-coenzyme A synthase gene(HMGS), two hydroxymethylglutaryl-CoA(HMG-CoA) reductase genes(HMG), one phosphomevalonate kinase gene(PMK), one 1-deoxy-D-xylose-5-phosphate synthase gene(CLA), one hydroxymethylbuten-1-aldol synthase gene(HDR), two farnesyl pyrophosphate synthase genes(FPPS), one squalene synthase gene(SQS), one β-amyrin synthase gene(BAS), 102 cytochrome P450(CYP450) gene family members, and 32 uridine diphosphate-glucuronosyltransferase(UGT) gene family members. ConclusionAmong the three cultivated types, YLC3 most closely resembles YLW in appearance, microscopic features, contents of major bioactive constituents, metabolomic and transcriptomic profiles. Yulin germplasm exhibits superior saponin synthesis capability compared to Daqing germplasm, and Yulin region is more suitable for the growth of B. scorzonerifolium. Based on these findings, it is recommended that artificial cultivation in northern Shaanxi and similar regions utilize the local Yulin germplasm source cultivated for at least three years.
3.Influence of high copper load on neurobehavior and the sirtuin 3/peroxisome proliferator-activated receptor-γ coactivator-1α signaling pathway in rats
Journal of Apoplexy and Nervous Diseases 2026;43(3):254-258
Objective To investigate the influence of high copper load on neurobehavior in rats and its possible mechanism of action based on the deacetylase sirtuin 3 (SIRT3)/peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) signaling pathway. Methods A total of 50 adult Sprague-Dawley rats were randomly divided into model group and blank group, with 25 rats in each group. The rats in the model group were fed with 1 g/kg high-copper diet and 0.185% copper sulfate solution (prepared using deionized water) to establish a rat model of high copper load, and after 12 weeks, the shuttle box test and the pole-climbing test were used to observe neurobehavioral changes, while Western blotting and immunofluorescent staining were used to measure the protein expression levels of SIRT3 and PGC-1α in hippocampal tissue. Results The shuttle box test showed that compared with the blank group, the model group had a significant reduction in the number of times of active avoidance reaction after stimulation (P<0.01) and significant increases in the times of active avoidance reaction and passive avoidance reaction (P<0.01);the pole-climbing test showed that compared with the blank group, the model group had a significant increase in pole-climbing time(P<0.01). Western blotting and immunofluorescent staining showed that compared with the blank group, the model group had significant reductions in the protein expression levels of SIRT3 and PGC-1α in hippocampal tissue (P<0.05). Conclusion High copper load has a marked influence on the neurobehavior of rats, possibly by regulating the expression of the SIRT3/PGC-1α signal pathway in hippocampal neurons.
4.Pathogenesis and Treatment Strategy of "Macrocirculation-Microcirculation" Uncoupling in Sepsis:from the Perspective of "Deep Heat,Deep Syncope"
Xinyi XU ; Yuyang LAN ; Xinyue WANG ; Ying GAO ; Ziqi SHAN ; Xiaokun YANG ; Lu XIAO
Journal of Traditional Chinese Medicine 2026;67(13):1403-1408
By reviewing modern research and integrating clinical practice, this paper interprets the correlation between "deep heat, deep syncope" and the "macrocirculation-microcirculation" uncoupling in sepsis, alongside its clinical applications in sepsis prevention and treatment. It is considered that "deep heat" corresponds to peripheral vasodilation and the hypermetabolic state at the macrocirculation level, whereas "deep syncope" manifests as hypoperfusion and impaired oxygen utilization at the microcirculation level. These two states interact detrimentally, forming the core contradiction of macrocirculation-microcirculation uncoupling in sepsis. Based on the traditional Chinese medicine (TCM) connotations of "deep heat, deep syncope" and modern medical research, this paper elucidates the systemic pathological evolution of sepsis from the inflammatory cascade to impaired oxygen utilization. Accordingly, the following therapeutic principles are proposed. In the early stage, it is suggested to clear heat and drain fire to vent the constrained yang. In the progressive stage, the focus is put on unblocking the lower jiao (焦) and expelling stasis to dredge the vessels and collaterals. In the recovery stage, the method of regulating and harmonizing yin and yang can be used to smooth the flow of qi and blood.
5.Construction and Evaluation of Maternal Mortality Prediction Model in Yunnan Province
Shan ZHAO ; Sai GAO ; Tangchun LI ; Zhongming ZHAO ; Yating WU ; Min ZHENG
Journal of Kunming Medical University 2025;46(2):110-117
Objective To construct and evaluate the prediction model of maternal mortality in Yunnan Province,and predict the maternal mortality rate in Yunnan Province from 2024 to 2030.Methods Based on the maternal mortality rates in Yunnan Province from 1994 to 2023,a grey prediction model and a autoregressive integrated moving average model were constructed,The models were compared using mean absolute error,mean square error and root mean square error to assess their fitting performance,and the optimal model was used to predict the maternal mortality rate in Yunnan Province from 2024 to 2030.Resuls The maternal mortality rate in Yunnan Province showed a continuous decline from 1994 to 2023(χ2=50 170.0,P<0.05).The mean absolute error,mean-square error and root mean-square error for the grey prediction model were 2.424,12.389,3.519,respectively,while for the differential autoregressive moving average model,they were 3.966,27.651,5.258,respectively.The prediction effect of the grey prediction model is superior to that of the autoregressive integrated moving average model,with a posterior difference ratio C=0.079 and a low probability error P=1,indicating a prediction accuracy of level 1.Using the grey prediction model,the maternal mortality rates for Yunnan Province from 2024 to 2030 are 10.05/100 000,9.16/100 000,8.34/100 000,7.59/100 000,691/100 000,6.30/100 000 and 5.73/100 000,respectively.Conclusion The grey prediction model has a good prediction effect on maternal mortality in Yunnan Province.It is predicted that the maternal mortality rate in Yunnan Province in 2030 can meet the control targets outlined in the"Healthy China 2030 Plan",the"Outline of Chinese Women's Development(2021-2030)"and the"Yunnan Women's Development Plan(2021-2030)".
6.Discussion on right lung volume reduction techniques in lung transplantation surgery
Hongyi WANG ; Yixing LI ; Jinteng FENG ; Heng ZHAO ; Yanpeng ZHANG ; Shan GAO ; Jizhao WANG ; Shuo LI ; Guangjian ZHANG
Organ Transplantation 2025;16(6):907-913
Objective To investigate the clinical effects of different right lung volume reduction techniques when the donor lung is oversized and mismatched with the recipient. Methods Clinical data of 10 recipients who underwent right lung volume reduction lung transplantation at the First Affiliated Hospital of Xi'an Jiaotong University from October 2022 to June 2024 were collected, including gender, age, primary disease type, and type of transplantation. A retrospective analysis was performed on postoperative complications within 90 days, duration of mechanical ventilation, hospital stay, and survival status to explore the impact of different volume reduction techniques on the survival rate of lung transplant recipients. Results A total of 10 right lung volume reduction recipients were included in this study, with 2 cases of upper lobe reduction, 7 cases of middle lobe reduction, and 1 case of lower lobe reduction. Three recipients developed airway complications (one each with upper, middle, and lower lobe reduction). The 30-day survival rate was 90% and the 1-year survival rate was 70%. One recipient with upper lobe reduction died of septic shock during the perioperative period, one with lower lobe reduction died of airway anastomotic fistula 2 months after surgery, and one with middle lobe reduction died of renal insufficiency 1 year after surgery. All 7 recipients with middle lobe reduction successfully passed the perioperative period, with one case of airway anastomotic stenosis (1/7). The average duration of mechanical ventilation was 71 hours, and the average hospital stay was 26 days. The 30-day survival rate was 7/7, and the 1-year survival rate was 6/7. Conclusions Middle lobe reduction in right lung transplantation surgery has the advantages of low incidence of airway complications, good safety, and minimal loss of lung function, and may be a better right lung volume reduction option with potential for application.
7.m6A modification regulates PLK1 expression and mitosis.
Xiaoli CHANG ; Xin YAN ; Zhenyu YANG ; Shuwen CHENG ; Xiaofeng ZHU ; Zhantong TANG ; Wenxia TIAN ; Yujun ZHAO ; Yongbo PAN ; Shan GAO
Chinese Journal of Biotechnology 2025;41(4):1559-1572
N6-methyladenosine (m6A) modification plays a critical role in cell cycle regulation, while the mechanism of m6A in regulating mitosis remains underexplored. Here, we found that the total m6A modification level in cells increased during mitosis by the liquid chromatography-mass spectrometry/mass spectrometry and m6A dot blot assays. Silencing methyltransferase-like 3 (METTL3) or METTL14 results in delayed mitosis, abnormal spindle assembly, and chromosome segregation defects by the immunofluorescence. By analyzing transcriptome-wide m6A targets in HeLa cells, we identified polo-like kinase 1 (PLK1) as a key gene modified by m6A in regulating mitosis. Specifically, through immunoblotting and RNA pulldown, m6A modification inhibits PLK1 translation via YTH N6-methyladenosine RNA binding protein 1, thus mediating cell cycle homeostasis. Demethylation of PLK1 mRNA leads to significant mitotic abnormalities. These findings highlight the critical role of m6A in regulating mitosis and the potential of m6A as a therapeutic target in proliferative diseases such as cancer.
Humans
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Polo-Like Kinase 1
;
Cell Cycle Proteins/metabolism*
;
Proto-Oncogene Proteins/metabolism*
;
Protein Serine-Threonine Kinases/metabolism*
;
Mitosis/physiology*
;
HeLa Cells
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Adenosine/genetics*
;
Methyltransferases/metabolism*
;
RNA, Messenger/metabolism*
;
RNA-Binding Proteins/metabolism*
8.Effect of overweight/obesity on female ART outcomes and its mechanisms
Siru HOU ; Shanshan WU ; Siwen ZHANG ; Shan GAO ; Jichun TAN
Chinese Journal of Reproduction and Contraception 2025;45(6):632-636
In recent years, the incidence of infertility has been steadily increasing. Obesity, recognized as a chronic inflammatory condition, can not only lead to various chronic diseases such as hypertension and diabetes, but also adversely affects female reproductive health,including rare ovulation, anovulation, menstrual irregularities, and even infertility. The reproductive outcomes of overweight/obese women are not optimistic even among people undergoing assisted reproductive technology (ART).However, the mechanisms of overweight and obesity on ART outcomes remain poorly understood. This review aims to summarize current evidence on the impact of overweight and obesity on ART outcomes in women and explore the potential mechanisms.
9.Biomechanics Research Progress of Motor Dysfunction in 2024
Wenxin NIU ; Yujia GAO ; Mianjia SHAN
Journal of Medical Biomechanics 2025;40(2):263-270
Motor dysfunction seriously affects people's quality of life,and currently is one of the main health problems facing mankind.Sports and rehabilitation biomechanics focuses on motor dysfunction,providing the theoretical basis for motor function assessment,dysfunction intervention technology and equipment development.In 2024,the biomechanical research of motor dysfunction achieved fruitful results.From 3 aspects,namely,non-contact assessment of motor function,intelligent classification and grading of dysfunction,and neurobiomechanical mechanism of motor dysfunction,this review summarizes the research progress in the past year and discusses the future development direction.
10.circHERC4_041 Inhibits the Fibrotic Phenotype of Cardiac Fibroblasts by Encoding Protein
Yuan GAO ; Chuan-Meng ZHOU ; Hua-Yan WU ; Ya WANG ; Ru-Shi WU ; Pei-Ying GUAN ; Jun-Tao FANG ; Jin-Dong XU ; Yu-Peng LIU ; Zhi-Qin HU ; Zhi-Xin SHAN
Chinese Journal of Biochemistry and Molecular Biology 2025;41(3):393-403
A mounting body of research suggests that circRNAs significantly contribute to the develop-ment of myocardial fibrosis.The microarray results of human circular RNA expression profile indicated that circHERC4_041 expression increased in the myocardium of patients with heart failure,RT-qPCR a-nalysis confirmed that the myocardial expression level of circHERC4_041 in individuals with heart failure were considerably elevated compared to that in healthy organ donors.Fluorescence in situ hybridization(FISH)confirmed that circHERC4_041 was abundant in the cytoplasm of human cardiomyocyte AC16.Overexpression of circHERC4_041 in mouse myocardial fibroblasts(mCFs)mediated by adenovirus in-hibited the expression of fibrosis-related proteins in mCFs.Experiments involving cell proliferation,wound healing,and Transwell assays demonstrated that overexpression of circHERC4_041 suppressed the growth and mobility of mCFs(P<0.001).Sequence analysis results suggested that circHERC4_041 con-tains potential ribosome entry sequence(IRES)and open reading frame(ORF).Western blot confirmed that circHERC4_041 could translate the 516 amino acid HERC4-516aa protein,which was mainly located in the cytoplasm of the cell.Cell functional experiments confirmed that circHERC4_041 inhibited the fi-brotic phenotype of mCFs by specifically translating HERC4-516aa(P<0.05).The specific interaction between HERC4-516aa and transglutaminase 2(TGM2)was confirmed by IP-MS screening and Co-IP i-dentification.Further results found that the degradation of TGM2 was promoted through proteasome path-way.The overexpression of TGM2 in mCFs facilitated by adenoviral vectors could counteract the suppres-sive effects of HERC4-516aa on the fibrotic phenotype of mCFs.Therefore,this study confirmed that the HERC4-516aa protein translated by circHERC4_041 can specifically bind to TGM2 to inhibit the fibrotic phenotype of myocardial fibroblasts.

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