1.Application of artificial intelligence-assisted chromosome karyotyping analysis in prenatal diagnosis of chromosomal mosaicism.
Ling ZHAO ; Shiwei SUN ; Qinghua ZHENG ; Qing YU ; Chongyang ZHU ; Ling LIU ; Yueli WU
Chinese Journal of Medical Genetics 2026;43(3):180-187
OBJECTIVE:
To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism.
METHODS:
A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01).
RESULTS:
No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360).
CONCLUSION
For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans
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Female
;
Mosaicism
;
Pregnancy
;
Karyotyping/methods*
;
Artificial Intelligence
;
Prenatal Diagnosis/methods*
;
Adult
;
Retrospective Studies
;
Chromosome Disorders/genetics*
;
Amniocentesis
2.Role of exosomal miR-320c in gingerol-mediated defense against Staphylococcus aureus infection
Zhencai XING ; Mengxue XU ; Xiang KONG ; Jinghan SUN ; Zhen MA ; Yu GAO ; Siyuan DU ; Hong ZHENG ; Yakun LIU
Acta Universitatis Medicinalis Anhui 2026;61(5):795-802
ObjectiveTo investigate the inhibitory effect of gingerol, an active component of ginger, on Staphylococcus aureus (S. aureus) infection, and to preliminarily explore its mechanism related to extracellular vesicles (EVs). MethodsS.aureus infection models were established in human umbilical vein endothelial cell (HUVECs), Vero E6 cells, and C57BL/6 mice. Experimental groups included control, infection, and gingerol-treated groups. Bacterial load and VE-cadherin protein expression were detected using immunofluorescence and Western blot. EVs were isolated by size exclusion chromatography and characterized by transmission electron microscopy and nanoparticle tracking analysis. miRNA sequencing was performed on EVs. ResultsGingerol treatment significantly reduced the bacterial load in both in vitro and in vivo infection models and upregulated VE-cadherin expression. miRNA sequencing of EVs revealed that S. aureus infection upregulated the expression of hsa-miR-320c, while gingerol treatment reversed this abnormal expression. Bioinformatic analysis further predicted that the target genes of hsa-miR-320c were significantly enriched in cell junction-related pathways. ConclusionGingerol exhibits clear antibacterial and host-protective effects, by regulating hsa-miR-320c in EVs to maintain endothelial barrier integrity.
3.Efficacy and safety of Chinese herbal compounds for pulmonary nodules: A systematic review and meta-analysis
Yanlong LI ; Xinze ZHENG ; Lingyan LAN ; Ying WANG ; Wei SU ; Jiahui CHEN ; Xiangjun QI ; Xuewei LI ; Bo AN ; Ling YU ; Lingling SUN ; Lizhu LIN
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(07):1119-1128
Objective To systematically evaluate the efficacy and safety of traditional Chinese medicine (TCM) compound in treating pulmonary nodules, providing evidence-based medical evidence for TCM intervention in pulmonary nodules. Methods Computer search of PubMed, CNKI, Wanfang, VIP, and SinoMed was conducted to select randomized controlled trials (RCTs) of TCM compound intervention in pulmonary nodules, with the retrieval time from the inception to November 29, 2023. The Cochrane bias risk assessment tool was used to evaluate the quality of the included studies, and Review Manager 5.4 was used for Meta-analysis. Results A total of 18 RCTs were included, covering 8 provinces across the country, with a total sample size of 1301 patients. The TCM compounds used in the included studies all incorporated the method of dissolving phlegm and dissipating nodules. There was a high risk of bias uncertainty in the included studies. Meta-analysis results suggested that TCM compound could significantly reduce the diameter of pulmonary nodules [MD=−1.41, 95%CI (−1.70, −1.13), P<0.001], decrease the number of nodules [MD=−0.37, 95%CI (−0.73, −0.01), P=0.05], alleviate clinical symptoms [MD=−4.84, 95%CI (−6.04, −3.64), P<0.001], and improve lung function [forced expiratory volume in one second (FEV1), MD=0.55, 95%CI (0.09, 1.01), P=0.02; FEV1/forced vital capacity, MD=6.12, 95%CI (4.47, 7.78), P<0.001]. However, there was no statistically significant difference in the probability of malignancy between the experimental group and the control group [MD=−0.01, 95%CI (−0.01, 0.00), P=0.09]. Conclusion TCM compound can significantly reduce the diameter of pulmonary nodules, decrease the number of nodules, alleviate clinical symptoms, and improve lung function, but future multicenter, large-sample, high-quality RCTs are still needed to further explore and verify this conclusion.
4.Annual review of basic research on lung transplantation worldwide in 2025
Jier MA ; Kemeng SUN ; Xiaohan JIN ; Jiaqi LI ; Xinyue ZHANG ; Chama LOUJAINE ; Junmin ZHU ; Hengtao LIN ; Xiangyun ZHENG ; Junjie WANG ; Zengwei YU ; Yaling LIU ; Haoji YAN ; Dong TIAN
Organ Transplantation 2026;17(4):582-593
Lung transplantation is a definitive treatment for end-stage lung disease and can significantly improve patient prognosis. However, postoperative complications such as infection, rejection, ischemia-reperfusion injury and chronic lung allograft dysfunction intertwine to form a complex pathological network, posing persistent challenges to long-term patient survival. In 2025, research teams worldwide have made systematic progress in the field of basic lung transplantation research. By integrating cutting-edge technologies including single-cell multi-omics, spatial transcriptomics and novel animal models, significant breakthroughs have been achieved in the evolutionary dynamics of drug-resistant infections, molecular mechanisms of immune regulation, programmed cell death, optimization of donor lung protection strategies and early warning of chronic lung allograft dysfunction. This article systematically reviews the representative advances in basic lung transplantation research worldwide in 2025, and deeply analyzes the implications of mechanistic breakthroughs for optimizing diagnosis and treatment strategies, aiming to anchor the direction for innovative breakthroughs and clinical translation in basic lung transplantation research.
5.Si Junzitang Ameliorates Alzheimer's Disease by Regulating Keap1/Nrf2/HO-1 Signaling Pathway
Minyan SUN ; Shaofeng WEI ; Xiaomin WANG ; Kehan GAO ; Jianhao YANG ; Ziran XIE ; Yu ZHANG ; Qin ZHENG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(17):23-37
ObjectiveTo explore the mechanisms through which Si Junzitang (SJZD) ameliorates Alzheimer's disease (AD) induced by scopolamine (SCOP) in mice and the PC12 cell model induced by H2O2 based on the Kelch-like ECH-associated protein 1 (Keap1)/nuclear factor erythroid 2-related factor 2 (Nrf2)/heme oxygenase-1 (HO-1) signaling pathway. MethodsIn the animal experiments, an AD model was established in mice by intraperitoneal injection of SCOP (3 mg·kg-1). Morris water maze and open field tests (OFT) were conducted to assess learning and memory abilities. Hematoxylin-eosin (HE) staining and Nissl staining were performed to observe pathological changes in neurons. Immunofluorescence was used to detect amyloid β-protein1-42 (Aβ1-42) expression, and immunohistochemistry was employed to detect phosphorylated (p)-Tau expression. Transmission electron microscopy (TEM) was employed to observe ultrastructural changes in hippocampal neurons and synapses. Biochemical methods were used to measure the levels of acetylcholine (ACh), acetylcholinesterase (AChE), superoxide dismutase (SOD), malondialdehyde (MDA), catalase (CAT), and lactate dehydrogenase (LDH). Real-time PCR and Western blot were employed to measure the mRNA and protein levels of molecules in the Keap1/Nrf2/HO-1 pathway in the hippocampus. In the cell experiments, a PC12 cell model of oxidative damage model was established with H2O2. Cell count kit-8 (CCK-8) assays and flow cytometry were adopted to measure cell viability and apoptosis rates, and Western blot was employed to quantify the expression levels of proteins in the Keap1/Nrf2/HO-1 pathway. ResultsThe animal experiments showed that compared with the model group, the SJZD and donepezil groups showed shortened escape latency (P<0.01), increased time in the target quadrant and platform crossings, and increased movement distance and duration in the central area of the open field (P<0.05, P<0.01). HE and Nissl staining showed more organized neurons and increased Nissl bodies in the drug intervention groups (P<0.05, P<0.01), and the Aβ1-42 and p-Tau expression levels were downregulated (P<0.05, P<0.01). TEM revealed reduced ultrastructural damage in hippocampal neurons and synapses in the drug intervention groups. In addition, the drug intervention groups showed declined levels of MDA, LDH, and AChE (P<0.05, P<0.01), elevated levels of SOD, CAT, and ACh (P<0.05, P<0.01), reduced Keap1 expression and increased Nrf2, HO-1, and NQO1 expression in the hippocampus (P<0.05, P<0.01). The cell experiments showed that compared with the model group, the SJZD-containing serum increased the cell viability (P<0.05, P<0.01), and decreased total apoptosis rates (P<0.05, P<0.01). The drug intervention groups showed upregulated protein levels of Nrf2 and HO-1 and downregulated protein level of Keap1 (P<0.05, P<0.01). ConclusionSJZD demonstrates protective effects against SCOP-induced AD in mice and H2O2-induced damage in PC12 cells through antioxidant mechanisms mediated by the Keap1/Nrf2/HO-1 pathway.
6.The mechanism study of PD-L2 influencing metastasis of head and neck squamous cell carcinoma via regulating EMT
Yu XIAOXUE ; Sun MENGYU ; Liu CHAO ; Zheng JIANWEI ; Mei MEI ; Zhou XUAN ; Ren YU
Chinese Journal of Clinical Oncology 2025;52(11):550-556
Objective:This study aimed to investigate the characteristic expression of programmed death-ligand 2(PD-L2)and epithelial-mesenchymal transition(EMT)-related biomarkers in head and neck squamous cell carcinoma(HNSCC)and their mechanism of action in HNSCC metastasis.Methods:Tumor tissue samples from 94 patients with HNSCC were collected from Tianjin Medical University Cancer Hos-pital from January 2018 to July 2023,and their correlation with clinicopathological parameters,including lymph node metastasis,was statist-ically assessed.Western blot was used to detect PD-L2 expression in HNSCC tumor tissues.PD-L2 overexpression and knockdown stably-transfected monoclonal cell lines were generated using lentiviral vectors.Transwell assays were performed to explore the effect of PD-L2 on the invasive migration of the HNSCC cell lines.Additionally,RNA sequencing was used to identify downstream target genes regulated by PD-L2.The expression levels of key EMT markers,including E-cadherin,N-cadherin,and Vimentin,were examined by Western blot to elucidate the molecular mechanism by which PD-L2 promotes tumor cell metastasis through EMT pathway activation.Additionally,RNA sequencing was employed to identify downstream target genes regulated by PD-L2.The expression levels of key EMT markers,including E-cadherin,N-cadherin,and Vimentin,were examined with Western blot analysis to elucidate the molecular mechanism by which PD-L2 promotes tumor cell metastasis through the EMT pathway activation.Results:High expression of PD-L2 is positively correlated with N staging(P<0.05),and elevated PD-L2 expression predicts a poor prognosis in HNSCC patients.Conclusions:PD-L2 regulates the EMT pathway to promote HNSCC metastasis.Targeting PD-L2 is expected to provide a new strategy for the treatment of metastatic HNSCC.
7.Research advances in traditional Chinese medicine for the prevention and treatment of inflammation-to-cancer transformation in chronic hepatitis
Simiao YU ; Sici WANG ; Haocheng ZHENG ; Yongqiang SUN ; Jing JING ; Tingting HE ; Liping WANG ; Aozhe ZHANG ; Xin WANG ; Xia DING ; Ruilin WANG
Journal of Clinical Hepatology 2025;41(9):1888-1895
Primary liver cancer is one of the most common malignant tumors of the digestive system, and the “inflammation-to-cancer transformation” (ICT) of chronic hepatitis is the core pathological process of the progression of chronic hepatitis to liver cancer. Persistent and uncontrolled liver inflammation in patients with chronic hepatitis often leads to repeated liver tissue damage and repair, which gradually develops into liver fibrosis and cirrhosis, eventually leading to malignant transformation through the mechanisms such as gene mutation and microenvironment imbalance. ICT in chronic hepatitis is the key link between chronic hepatitis and liver cancer, and its dynamic evolution involves various pathogenic factors such as dampness, heat, deficiency, toxin, and stasis; among which damp-heat and vital energy deficiency are the initiating factors for ICT of chronic hepatitis, while intermingled stasis and toxin are the key pathological products that promote malignant transformation. Based on the concept of preventive treatment, traditional Chinese medicine can effectively delay and even block the ICT of chronic hepatitis by regulating inflammation, metabolism, and abnormal cell proliferation through multiple targets, which provides important strategies and research directions for the prevention and treatment of liver cancer.
8.Clinical characteristics and survival analysis of pediatric Hodgkin lymphoma: a multicenter study.
Ying LIN ; Li-Li PAN ; Shao-Hua LE ; Jian LI ; Bi-Yun GUO ; Yu ZHU ; Kai-Zhi WENG ; Jin-Hong LUO ; Gao-Yuan SUN ; Yong-Zhi ZHENG
Chinese Journal of Contemporary Pediatrics 2025;27(6):668-674
OBJECTIVES:
To investigate the clinicopathological characteristics and prognostic factors of pediatric Hodgkin lymphoma (HL).
METHODS:
A retrospective analysis was conducted on the clinical data of children with newly diagnosed HL from January 2011 to December 2023 at four hospitals: Fujian Medical University Union Hospital, Fujian Medical University Zhangzhou Hospital, First Affiliated Hospital of Xiamen University, and Fujian Children's Hospital. Patients were categorized into low-risk (R1), intermediate-risk (R2), and high-risk (R3) groups based on HL staging and pre-treatment risk factors. The patients received ABVD regimen or Chinese Pediatric HL-2013 regimen chemotherapy. Early treatment response and long-term efficacy were assessed, and prognostic factors were analyzed using the Cox proportional hazards regression model.
RESULTS:
The overall complete response (CR) rates after 2 and 4 cycles of chemotherapy were 42% and 68%, respectively. Compared with the ABVD regimen group, patients treated with the HL-2013 regimen in the R1 group showed significantly higher CR rates after both 2 and 4 cycles (P<0.05). However, no statistically significant differences in CR rates were observed between the two regimens in the R2 and R3 groups (P>0.05). The 5-year event-free survival (EFS) rate, overall survival rate, and freedom from treatment failure rate were 83%±4%, 97%±2%, and 88%±4%, respectively. Cox analysis indicated that the presence of a large tumor mass at diagnosis and failure to achieve CR after 4 cycles of chemotherapy were independent risk factors for lower EFS rates (P<0.05).
CONCLUSIONS
Pediatric HL generally has a favorable prognosis. The presence of a large tumor mass at diagnosis and failure to achieve CR after 4 cycles of chemotherapy indicate poor prognosis.
Humans
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Hodgkin Disease/pathology*
;
Male
;
Child
;
Female
;
Adolescent
;
Retrospective Studies
;
Child, Preschool
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
;
Prognosis
;
Proportional Hazards Models
;
Survival Analysis
;
Infant
9.Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture-dislocation in adults (version 2025)
Qingde WANG ; Tongwei CHU ; Jian DONG ; Liangjie DU ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Yong HAI ; Da HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Fang LI ; Feng LI ; Li LI ; Weishi LI ; Fangcai LI ; Xiaoguang LIU ; Hongjian LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Xuhua LU ; Keya MAO ; Xuexiao MA ; Yong QIU ; Limin RONG ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Bing WANG ; Linfeng WANG ; Yu WANG ; Qinghe WANG ; Jigong WU ; Hong XIA ; Guoyong YIN ; Jinglong YAN ; Wen YUAN ; Yong YANG ; Qiang YANG ; Cao YANG ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Zezhang ZHU ; Yingjie ZHOU ; Zhongmin ZHANG ; Yan ZENG ; Dingjun HAO ; Baorong HE ; Wei MEI
Chinese Journal of Trauma 2025;41(3):243-252
Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.
10.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.

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