Haimeng Wang, Jiaming Xu, Xiaoling Yu, Siyu Hao, Xueqin Chen, Bin Peng, Xiaona Li, Ping Wang, Chaoyang Miao, Jinzhu Guo, Qingjie Hu, Zhonglan Su, Sheng Wang, Chen Yu, Qingmiao Sun, Minkuo Zhang, Bin Yang, Yuzhen Li, Zhiqiang Song, Songmei Geng, Aijun Chen, Zigang Xu, Chunlei Zhang, Qianjin Lu, Yan Lu, Xian Jiang, Gang Wang, Hong Fang, Qing Sun, Jie Liu, Hongzhong Jin
{"title":"Current status of generalized pustular psoriasis: Findings from a multicenter hospital-based survey of 127 Chinese patients.","authors":"Haimeng Wang, Jiaming Xu, Xiaoling Yu, Siyu Hao, Xueqin Chen, Bin Peng, Xiaona Li, Ping Wang, Chaoyang Miao, Jinzhu Guo, Qingjie Hu, Zhonglan Su, Sheng Wang, Chen Yu, Qingmiao Sun, Minkuo Zhang, Bin Yang, Yuzhen Li, Zhiqiang Song, Songmei Geng, Aijun Chen, Zigang Xu, Chunlei Zhang, Qianjin Lu, Yan Lu, Xian Jiang, Gang Wang, Hong Fang, Qing Sun, Jie Liu, Hongzhong Jin","doi":"10.1097/CM9.0000000000003494","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003494","url":null,"abstract":"<p><strong>Background: </strong>Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited.</p><p><strong>Methods: </strong>This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed.</p><p><strong>Results: </strong>Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (interquartile range [IQR]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset (P = 0.021) and transitioning to plaque psoriasis (P = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (IQR: 2-41), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (IQR: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP.</p><p><strong>Conclusions: </strong>The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.</p>","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Efficacy and safety of topical finasteride spray solution in the treatment of Chinese men with androgenetic alopecia: A phase III, multicenter, randomized, double-blind, placebo-controlled study.","authors":"Cheng Zhou, Bin Yang, Huiming Zeng, Rushan Xia, Ningning Dang, Qinping Yang, Ji Li, Chunlei Zhang, Guoqiang Zhang, Aihua Wei, Wei Lai, Shuxia Yang, Qingchun Diao, Yangfeng Ding, Liming Wu, Lunfei Liu, Danyang Jia, Hanjie Zhu, Jianzhong Zhang","doi":"10.1097/CM9.0000000000003495","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003495","url":null,"abstract":"<p><strong>Background: </strong>Topical finasteride is a novel treatment for men with an androgenetic alopecia (AGA). This study aimed to evaluate the efficacy and safety of topical finasteride spray solution in Chinese men with AGA.</p><p><strong>Methods: </strong>This randomized, double-blind, placebo-controlled, phase III trial enrolled 270 individuals with AGA from 16 sites across China between December 2021 and March 2023. The participants were randomized at a ratio of 2:1 to receive either topical finasteride or placebo treatment once daily for 24 weeks. The primary endpoint was the change from baseline in target area (0.903 cm2 area) hair count at week 24. The secondary endpoints were change from baseline in target area hair count at week 12, target area terminal hair count at weeks 12 and 24, target area terminal hair width at week 24, and target area hair width at week 24; an improvement of vertex hair growth assessed by the investigator at week 24; and the patient-assessed scores on the Male Hair Growth Questionnaire at week 24.</p><p><strong>Results: </strong>A total of 270 individuals were enrolled and randomized and 251 completed the study. Compared with the placebo group, in the topical finasteride group, the change from baseline in target area hair count was significantly higher at week 24 (P <0.05), although it was only numerically higher at week 12 (P = 0.0688). Significant differences favoring topical finasteride over placebo were observed for change from baseline in target area terminal hair count at weeks 12 (P <0.05) and 24 (P <0.01). The improvement of vertex hair growth assessed by the investigator was significantly greater in the topical finasteride group vs. the placebo group at week 24 (P <0.01). Topical finasteride was generally safe and well-tolerated.</p><p><strong>Conclusions: </strong>In Chinese men with AGA, topical finasteride spray solution increased hair growth and showed good safety and tolerability profile during a 24-week treatment period.</p><p><strong>Clinical trial registration: </strong>Clinicaltrials.gov identifier: NCT05135468.</p>","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuxi Gong, Xue Jiang, Yuqian Zheng, Yang Li, Xiaojing Bao, Wenjuan Zhu, Ying Li, Xiaojin Wu, Bo Liang, Tengteng Zhang, Jun He
{"title":"HLA alleles, blocks, and haplotypes associated with the hematological diseases of AML, ALL, MDS, and AA in the Han population of Southeastern China.","authors":"Yuxi Gong, Xue Jiang, Yuqian Zheng, Yang Li, Xiaojing Bao, Wenjuan Zhu, Ying Li, Xiaojin Wu, Bo Liang, Tengteng Zhang, Jun He","doi":"10.1097/CM9.0000000000003521","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003521","url":null,"abstract":"","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simiao Wu, Yanan Wang, Ruozhen Yuan, Meng Liu, Xing Hua, Linrui Huang, Fuqiang Guo, Dongdong Yang, Zuoxiao Li, Bihua Wu, Chun Wang, Jingfeng Duan, Tianjin Ling, Hao Zhang, Shihong Zhang, Bo Wu, Cairong Zhu, Craig S Anderson, Ming Liu
{"title":"Clinical course, causes of worsening, and outcomes of severe ischemic stroke: A prospective multicenter cohort study.","authors":"Simiao Wu, Yanan Wang, Ruozhen Yuan, Meng Liu, Xing Hua, Linrui Huang, Fuqiang Guo, Dongdong Yang, Zuoxiao Li, Bihua Wu, Chun Wang, Jingfeng Duan, Tianjin Ling, Hao Zhang, Shihong Zhang, Bo Wu, Cairong Zhu, Craig S Anderson, Ming Liu","doi":"10.1097/CM9.0000000000003556","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003556","url":null,"abstract":"<p><strong>Background: </strong>Severe stroke has high rates of mortality and morbidity. This study aimed to investigate the clinical course, causes of worsening, and outcomes of severe ischemic stroke.</p><p><strong>Methods: </strong>This prospective, multicenter cohort study enrolled adult patients admitted ≤30 days after ischemic stroke from nine hospitals in China between September 2017 and December 2019. Severe stroke was defined as a score of ≥15 on the National Institutes of Health Stroke Scale (NIHSS). Clinical worsening was defined as an increase of 4 in the NIHSS score from baseline. Unfavorable functional outcome was defined as a modified Rankin scale score ≥3 at 3 months and 1 year. We per-formed logistic regression to explore baseline features and reperfusion therapies associated with clinical worsening and functional outcomes.</p><p><strong>Results: </strong>Among 4201 patients enrolled, 854 patients (20.33%) had severe stroke on admission. Of 3347 patients without severe stroke on admission, 142 (4.24%) patients developed severe stroke in hospital. Of 854 patients with severe stroke on admission, 33.95% (290/854) experienced clinical worsening (time from stroke onset median: 43 h, interquartile range [IQR]: 20-88 h), with brain edema (54.83% [159/290]) as the leading cause; 24.59% (210/854) of these patients died by 30 days, and 81.47% (677/831) and 78.44% (633/807) had unfavorable functional outcomes at 3 months and 1 year, respectively. Reperfusion reduced the risk of worsening (adjusted odds ratio [OR]: 0.24, 95% confidence interval [CI]: 0.12-0.49, P <0.01), 30-day death (adjusted OR: 0.22, 95% CI: 0.11-0.41, P <0.01), and unfavorable functional outcomes at 3 months (adjusted OR: 0.24, 95% CI: 0.08-0.68, P <0.01) and 1 year (adjusted OR: 0.17, 95% CI: 0.06-0.50, P <0.01).</p><p><strong>Conclusions: </strong>Approximately one-fifth of patients with ischemic stroke had severe neurological deficits on admission. Clinical worsening mainly occurred in the first 3 days after stroke onset, with brain edema as the leading cause of worsening. Reperfusion reduced the risk of clinical worsening and improved functional outcomes.</p><p><strong>Registration: </strong>ClinicalTrials.gov, NCT03222024.</p>","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hydrogen sulfide attenuates oxidative stress-induced cellular senescence via the Sirt3/SOD2 signaling pathway in chronic obstructive pulmonary disease.","authors":"Sha Liao, Dian Chen, Huanyu Long, Simin Jiang, Jing Fan, Shurun Li, Yongfen Qi, Lixiang Xue, Yanling Ding, Yahong Chen","doi":"10.1097/CM9.0000000000003452","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003452","url":null,"abstract":"<p><strong>Background: </strong>Senescence significantly participates in shaping the pathobiological process underlying chronic obstructive pulmonary disease (COPD). Currently, the mechanisms underlying the anti-aging effects within COPD of hydrogen sulfide (H2S) are not fully illustrated.</p><p><strong>Methods: </strong>Immunohistochemistry (IHC) staining was performed on human lung tissue to detect the expression levels of sirtuin 3 (Sirt3), cyclin-dependent kinase 4 inhibitor (P16), and cystathionin gamma lyase (CTH). An animal model including wild-type (WT) and Sirt3 knockout (KO) mice was established by exposing them to cigarette smoking (CS) for 24 weeks, with or without intraperitoneal injection of sodium hydrosulfide (NaHS, 50 µmol∙L-1∙kg-1) 30 min prior to CS exposure. Lung function was assessed. The expression levels of P16, cyclin-dependent kinase inhibitor 1 (P21), Sirt3, manganese superoxide dismutase (SOD2), manganese acetylated superoxide dismutase (ac-SOD2), interleukin-6 (IL-6), IL-8, malondialdehyde (MDA), and glutathione (GSH), as well as the activity of SOD2 and Sirt3, were evaluated. Human bronchial epithelial BEAS-2B cells were subjected to diverse cigarette smoking extract (CSE) concentrations for 48 h with or without sodium hydrosulfide (NaHS). Subsequently, the levels of total intracellular reactive oxygen species (T-ROS), mitochondrial reactive oxygen species (mitoROS), mitochondrial membrane potential (MMP), senescence-associated β-galactosidase (SA-β-gal) staining positive cells, and related marker proteins and cytokines were assessed. Furthermore, the Sirt3-specific inhibitor 3-TYP and small interfering RNAs (siRNAs) of Sirt3 were used to examine the mechanisms whereby H2S inhibits oxidative stress and senescence in COPD.</p><p><strong>Results: </strong>IHC showed a significant reduction of CTH and Sirt3 protein levels in the lung tissue of COPD with smoking patients and smokers without COPD compared to non-smokers. Furthermore, the expression of the aging marker protein P16 was notably elevated in the COPD with smoking group compared to the smokers without COPD and non-smoker groups. Furthermore, our results demonstrated that exposure to CS resulted in imbalanced oxidative and cellular senescence, including elevated mitoROS, T-ROS, MDA, and ac-SOD2, along with increased proportions of SA-β-gal staining positive cells and the increased expression levels of IL-6, IL-8, P21, and P16, as well as decreased GSH levels, SOD2 and Sirt3 activities, and Sirt3 expression, which ultimately contribute to emphysema development and impaired lung function. However, pretreatment with NaHS effectively reversed these detrimental effects. Nevertheless, the protective effect of NaHS was alleviated in Sirt3 KO mice and in cellular models treated with Sirt3 siRNA and 3-TYP.</p><p><strong>Conclusion: </strong>Our study indicates that H2S inhibits oxidative stress and cellular senescence by modulating the Sirt3/SOD2 signaling pathway, theref","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Asthma treatable traits: How far do we have to go?","authors":"Honglei Shi, Kewu Huang","doi":"10.1097/CM9.0000000000003507","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003507","url":null,"abstract":"","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neuroticism is associated with future disease and mortality risks.","authors":"Shuyi Huang, Yaru Zhang, Lingzhi Ma, Bangsheng Wu, Jianfeng Feng, Wei Cheng, Jintai Yu","doi":"10.1097/CM9.0000000000003503","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003503","url":null,"abstract":"<p><strong>Background: </strong>Neuroticism has been associated with numerous health outcomes. However, most research has focused on a single specific disorder and has produced controversial results, particularly regarding mortality risk. Here, we aimed to examine the association of neuroticism with morbidity and mortality and to elucidate how neuroticism affects trajectories from a healthy state, to one or more neuroticism-related disorders, and subsequent mortality risk.</p><p><strong>Methods: </strong>We included 483,916 participants from the UK Biobank at baseline (2006-2010). Neuroticism was measured using the Eysenck Personality Questionnaire. Three clusters were constructed, including worry, depressed affect, and sensitivity to environmental stress and adversity (SESA). Cox proportional hazards regression and multistate models were used. Linear regression was used to examine the association between neuroticism and immune parameters and neuroimaging measures.</p><p><strong>Results: </strong>High neuroticism was associated with 37 non-overlapping diseases, including increased risk of infectious, cardiometabolic, neuropsychiatric, digestive, respiratory diseases, and decreased risk of cancer. After adjustment for sociodemographic variables, physical measures, healthy behaviors, and baseline diagnoses, moderate-to-high neuroticism was associated with a decreased risk of all-cause mortality. In multistate models, high neuroticism was associated with an increased risk of transitions from a healthy state to a first neuroticism-related disease (hazard ratio [HR] [95% confidence interval (CI)] = 1.09 [1.05-1.13], P <0.001) and subsequent transitions to multimorbidity (1.08 [1.02-1.14], P = 0.005), but was associated with a decreased risk of transitions from multimorbidity to death (0.90 [0.84-0.97], P for trend = 0.006). The leading neuroticism cluster showing a detrimental role in the health-illness transition was depressed affect, which correlated with higher amygdala volume and lower insula volume. The protective effect of neuroticism against mortality was mainly contributed by the SESA (sensitivity to environmental stress and adversity) cluster, which, unlike the other two clusters, did not affect the balance between innate and adaptive immunity.</p><p><strong>Conclusion: </strong>This study provides new insights into the differential role of neuroticism in health outcomes and into new perspectives for establishing mortality prevention programs for patients with multimorbidity.</p>","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heng Zhang, Yan Zhao, Lingxia Wang, Zhanglei Mu, Xiaoyang Liu, Jianzhong Zhang, Lin Cai
{"title":"Eczematoid paradoxical reaction in psoriasis patients following secukinumab.","authors":"Heng Zhang, Yan Zhao, Lingxia Wang, Zhanglei Mu, Xiaoyang Liu, Jianzhong Zhang, Lin Cai","doi":"10.1097/CM9.0000000000003505","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003505","url":null,"abstract":"","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Penghui Song, Xiaotong Yang, Nuo Yang, Yue Dong, Yuping Wang
{"title":"Guideline for the clinical application of transcranial alternating current stimulation.","authors":"Penghui Song, Xiaotong Yang, Nuo Yang, Yue Dong, Yuping Wang","doi":"10.1097/CM9.0000000000003581","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003581","url":null,"abstract":"","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xiaoqian Wang, Jia Zhang, Xueyi Rao, Yanyan Liu, Ziyuan Lin, Feng Chen, Rong Luo, Huaqin Sun, Jing Gan
{"title":"Modeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis.","authors":"Xiaoqian Wang, Jia Zhang, Xueyi Rao, Yanyan Liu, Ziyuan Lin, Feng Chen, Rong Luo, Huaqin Sun, Jing Gan","doi":"10.1097/CM9.0000000000003398","DOIUrl":"https://doi.org/10.1097/CM9.0000000000003398","url":null,"abstract":"<p><strong>Background: </strong>The CUG-binding protein Elav-like family member 2 (CELF2) gene has been linked to the pathogenesis of epilepsy, but its precise role remains unclear. This study aimed to investigate the pathogenic mechanisms of CELF2 mutation in epilepsy, utilizing zebrafish models to explore its molecular pathways and biological impact.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed to identify CELF2 mutations associated with epilepsy. CELF2 zebrafish model were generated using clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-related protein 9 technology and morpholinos, followed by behavioral and electroencephalographic analyses to confirm epileptic phenotypes. Proteomic and metabolomic analyses were conducted to examine the impact of CELF2 deficiency on metabolic pathways, and single-cell sequencing was used to assess alterations in neuronal cell populations.</p><p><strong>Results: </strong>An infant with infantile epileptic spasms syndrome associated with a CELF2 (p.Pro520Arg) gene mutation was reported. We established zebrafish models with celf2 gene knockout and knockdown and found that zebrafish with celf2 mutations exhibited epilepsy-like behaviors, which could be rescued by injection of CELF2 wild-type mRNA. Significant changes were observed in crucial marker genes associated with the nervous system in the celf2+/- group, including FOS, BDNF, NPAS4, GABRA1, GABRG2, and PYYA. Disruptions in lipid metabolism, heat shock protein 90 beta1 (Hsp90b1), were identified in proteomic and metabolomic analyses. Single-cell sequencing showed changes in nucleosome localization, nucleosome DNA binding, arginine and proline metabolic pathways, gonadotropin-releasing hormone signaling pathway, and nucleotide-binding oligomerization domain receptor signaling pathway.</p><p><strong>Conclusions: </strong>Our study has revealed a promising association between defects in the CELF2 gene and epilepsy using a zebrafish model, suggesting that CLEF2 is a causative gene in epilepsy. These findings not only indicate the potential impact on the biological process influenced by the CELF2 gene defect but also offer hopeful insights into the pathogenesis of epilepsy and potential therapeutic targets.</p>","PeriodicalId":10183,"journal":{"name":"Chinese Medical Journal","volume":" ","pages":""},"PeriodicalIF":7.5,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}