Clinical and Experimental Medicine最新文献

{"title":"SLFN11, far from being limited to responding to cancer DNA damage.","authors":"Hao Xiao, Zeping Han, Yingkai Tang, Xukang Gao, Min Xu, Shuangjian Qiu, Ning Ren, Yong Yi, Chenhao Zhou","doi":"10.1007/s10238-025-01776-y","DOIUrl":"https://doi.org/10.1007/s10238-025-01776-y","url":null,"abstract":"<p><p>SLFN11, a member of the evolutionarily conserved SLFN gene family, is an interferon-stimulated early response gene. This review comprehensively explores its multifaceted roles. Structurally, its three distinct domains endow it with diverse functions. Epigenetic modifications, post-translational alterations, and multiple signaling pathways intricately regulate SLFN11 expression and activity. In terms of functions, it plays crucial roles in the DNA damage response during replication stress, distinct from traditional pathways. It also serves as a protector in the antiviral response and a valuable biomarker for predicting the efficacy of DNA-damaging agents and patient prognosis in various cancers. Beyond these, SLFN11 has non-canonical functions, including immune regulation, modulation of oncological behaviors, involvement in apoptosis, protection against proteotoxic stress, and association with Fanconi anemia. Looking ahead, SLFN11 holds great promise as a biomarker for personalized medicine, but challenges like developing accurate detection methods remain. In immunotherapy, understanding its dynamic changes is essential for optimizing treatment. Strategies to overcome SLFN11-low expression, such as epigenetic modulation, also need further investigation, which may open new avenues for disease treatment.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"304"},"PeriodicalIF":3.5,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12380651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel prognostic signature integrating disulfidptosis- and ferroptosis-related genes in acute myeloid leukemia.","authors":"Huihui Jiang, Li Liang, Tingting Liu, Zhe Zhao, Nana Wang, Jingtao Wang, Yuanyuan Hu, Dongmei Wang, Jingjing Ye, Fei Lu, Chunyan Ji","doi":"10.1007/s10238-025-01670-7","DOIUrl":"https://doi.org/10.1007/s10238-025-01670-7","url":null,"abstract":"<p><p>Acute myeloid leukemia is a highly heterogeneous hematopoietic malignancy, and we constructed a prognostic signature combining disulfidptosis-related genes and ferroptosis-related genes to predict the prognosis, immunotherapy response, and drug sensitivity of acute myeloid leukemia (AML) patients. The TCGA-LAML datasets underwent random partitioning into training and validation sets. Subsequently, a prognostic risk signature was formulated using the least absolute shrinkage and selection operator algorithm. Kaplan-Meier survival analysis and receiver operating characteristic curve analysis were employed to assess the clinical significance of the signature. The results of the immune infiltration difference analyses are displayed, and the drug sensitivity analyses were used to identify potentially effective drugs for AML patients. qPCR was employed to validate the expression levels of the signature genes and compared the signature with existing signatures and mutated genes. Univariate and multivariate Cox regression analyses have underscored the signature as an autonomous prognostic risk determinant. Scrutiny into immune infiltration has unveiled significant associations: the risk score exhibits a favorable correlation with monocyte and M2 macrophage counts but an adverse correlation with resting mast cell counts. The expression patterns of immune checkpoint genes diverge between the distinct risk cohorts. Patients categorized as high-risk demonstrate enhanced benefits from cyclopamine, 443654, and 770041, whereas those classified as low-risk exhibit more pronounced advantages from cytarabine and AZD6244. The risk signature demonstrates superior prognostic accuracy compared to established signatures and mutated genes. In summary, our study may provide potential prognostic biomarkers and individualized precision therapy for AML patients.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"303"},"PeriodicalIF":3.5,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12378281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic utility and clinical relevance of anti-MCV and anti-CCP antibodies in rheumatoid arthritis.","authors":"Feng Dong, Limin Wang","doi":"10.1007/s10238-025-01850-5","DOIUrl":"https://doi.org/10.1007/s10238-025-01850-5","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a persistent autoimmune disorder where serological biomarkers play a crucial role in diagnosis and monitoring disease activity. Antibodies targeting cyclic citrullinated peptides (anti-CCP), mutated citrullinated vimentin (anti-MCV), and rheumatoid factor are commonly used serological markers for RA. However, their respective diagnostic efficacies and potential for mutual complementation remain incompletely understood. This study investigates the diagnostic performance of these three antibodies and their association with disease progression in RA. A total of 257 RA patients who visited Jinhua Hospital Affiliated with Zhejiang University between March and December 2019 were enrolled. Serum specimens were analyzed for anti-CCP, anti-MCV antibodies, and RF levels using chemiluminescence immunoassay (CLIA) and rate nephelometry. The results indicated that the specificity of anti-CCP (94.2%) was higher than that of anti-MCV (84.4%) and RF (84.8%). Furthermore, anti-MCV antibody levels were significantly link to disease duration and morning stiffness. Additionally, anti-MCV and anti-CCP demonstrated differing associations with extra-articular manifestations of RA. The study suggests that anti-MCV antibodies hold significant potential as adjunctive biomarkers in RA, complementing anti-CCP antibodies to improve diagnostic accuracy and provide new insights for early diagnosis and disease monitoring in RA.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"302"},"PeriodicalIF":3.5,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12375518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic options for extramedullary involvement in multiple myeloma.","authors":"Junmei Zhao, Yushan Cui, Baijun Fang","doi":"10.1007/s10238-025-01821-w","DOIUrl":"https://doi.org/10.1007/s10238-025-01821-w","url":null,"abstract":"<p><p>Extramedullary involvement (extramedullary disease, EMD) is an aggressive subtype of multiple myeloma (MM) characterized by myeloma subclones proliferating independently of the bone marrow microenvironment, often associated with high-risk cytogenetic abnormalities, immune evasion, and treatment resistance. While significant breakthroughs have been achieved in MM treatment with the sequential approval of proteasome inhibitors, immunomodulatory drugs, and anti-CD38 monoclonal antibodies, prognosis remains poor once EMD develops. Even in the era of immunotherapy, the survival benefit for EMD patients has not shown significant improvement. This review systematically summarizes therapeutic options for MM patients with EMD, aiming to provide evidence-based guidance for EMD treatment.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"301"},"PeriodicalIF":3.5,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12374916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure.","authors":"Yoshitaka Zaimoku, Tatsuya Imi, Tatsuya Hatada, Hiroki Mizumaki, Hiroki Mura, Hiroki Yoshino, Yui Kano, Miku Kobayashi, Eriko Morishita, Natsumi Fushida, Takashi Matsushita, Keishi Mizuguchi, Hiroko Ikeda, Yasuhito Nannya, Seishi Ogawa, Kazuyoshi Hosomichi, Noriko Doki, Yuta Katayama, Takashi Koike, Ken-Ichi Matsuoka, Tetsuya Nishida, Yoshiyuki Takahashi, Keisuke Kataoka, Hideyuki Nakazawa, Yasunori Ueda, Takahiro Fukuda, Tatsuo Ichinohe, Fumihiko Ishimaru, Makoto Onizuka, Yoshiko Atsuta, Toshihiro Miyamoto","doi":"10.1007/s10238-025-01832-7","DOIUrl":"https://doi.org/10.1007/s10238-025-01832-7","url":null,"abstract":"<p><p>VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) is a recently identified clonal disorder caused by somatic UBA1 mutations in hematopoietic stem cells, leading to bone marrow failure (BMF) and systemic inflammation. We screened 1771 patients with BMF who underwent unrelated hematopoietic cell transplantation in Japan between 1995 and 2020 using multitarget real-time PCR. The diagnoses included myelodysplastic syndrome (MDS, n = 1139), myeloproliferative neoplasms (n = 125), plasma cell neoplasms (n = 23), acquired BMF (n = 395), and congenital BMF (n = 89). Pathogenic UBA1 mutations were detected in two male patients with MDS (aged 48 and 63 years), corresponding to a prevalence of 0.11% in the overall cohort and 0.18% in MDS cases; an additional 70-year-old male was diagnosed outside of the cohort. All three underwent unrelated bone marrow transplantation following fludarabine and busulfan-based conditioning. The first and third patients died of idiopathic pneumonia syndrome 5 and 28 months after transplantation. In the third patient, UBA1-mutant cells persisted at low frequency in skin graft-versus-host disease tissue despite clearance from his blood. The second patient survived without relapse or graft-versus-host disease at 28 months. Although VEXAS syndrome is rare among unrelated HCT recipients with malignant and non-malignant BMF in the historical cohort, HCT is positioned as a potentially curative, yet high-risk strategy. Additional studies are essential to refine patient selection, optimize transplant timing, and improve management strategies to mitigate risk and enhance survival. Therefore, the role of tissue-residual UBA1-mutant clones in post-transplant complications warrants further investigation.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"300"},"PeriodicalIF":3.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12373688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of combination chelation with deferasirox and deferiprone in children with beta-thalassemia major: an audit from a unit in the developing world.","authors":"Vinson James, Anand Prakash","doi":"10.1007/s10238-025-01687-y","DOIUrl":"https://doi.org/10.1007/s10238-025-01687-y","url":null,"abstract":"<p><p>Effective iron chelation is crucial for preventing morbidity and mortality in transfusion-dependent beta-thalassemia major. While oral chelation is the preferred mode of administration, heavily iron-overloaded patients often require combination therapy. Although desferoxamine and deferiprone are commonly recommended, a combination of two oral chelators-deferasirox and deferiprone, offers a more convenient alternative. This study evaluates the efficacy and safety of combination oral chelation in pediatric patients with severe iron overload. Children with transfusion-dependent beta-thalassemia major and persistently high serum ferritin levels (> 2500 µg/dL) for more than six months despite maximum-dose deferasirox (40 mg/kg/day) were initiated on combination chelation with deferiprone. Serum ferritin levels were monitored at six-month intervals to assess treatment efficacy. Among 130 regularly followed patients, 27 met the criteria for combination chelation. A significant reduction in serum ferritin levels was observed, decreasing from 4277 ± 1885 µg/dL at baseline to 3242 ± 1110 µg/dL at six months (p = 0.003) and further to 2985 ± 1116 µg/dL at twelve months (p = 0.018). No significant adverse effects were noted during the study period. Combination chelation with deferasirox and deferiprone is an effective and well-tolerated strategy for managing severe iron overload in children with beta-thalassemia major. This approach provides a practical alternative to injectable therapies and may improve adherence and treatment outcomes.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"299"},"PeriodicalIF":3.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12373522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association between 4-HPR-mediated LCN2 suppression and reduced intestinal cell senescence in ulcerative colitis.","authors":"Xiaoxue Pan, Jianghao Wang, Jing Zhu, Xin Wang, Yucun Liu, Shanwen Chen, Pengyuan Wang","doi":"10.1007/s10238-025-01843-4","DOIUrl":"https://doi.org/10.1007/s10238-025-01843-4","url":null,"abstract":"<p><p>Ulcerative colitis is a type of inflammatory bowel disease that can significantly impact patients' life, leading to long-term complications. Cellular senescence plays a significant role in the occurrence and development of enteritis. The purpose of this study is to identify a specific drug and potential target that can inhibit intestinal cell senescence, thereby improving the clinical outcomes of enteritis. Bioinformatics analysis was used to identify the drug and target that associated with cellular senescence and ulcerative colitis. LPS-induced in vitro models and DSS-induced in vivo colitis models were used to confirm the association between colitis and aging, as well as the ability of the drug to alleviate colitis symptoms. Bioinformatics analysis suggested that Fenretinide (4-HPR) may influence the progression of ulcerative colitis by targeting LCN2 to modulate cellular senescence. Western blot analysis revealed high expression of LCN2 in patients with ulcerative colitis (p- value < 0.05). In the in vivo experiments utilizing a DSS-induced colitis model, 4-HPR was shown to be both safe and effective in inhibiting colitis progression. Western blot analysis indicated the downregulation of the senescence markers P16 and P21 following 4-HPR treatment (adjusted p-value < 0.0001). Moreover, β-galactosidase staining of intestinal tissues revealed a reduction in the accumulation of senescent cells in the 4-HPR-treated group compared to the DSS group (adjusted p-value < 0.0001). The potential mechanism might be related to the regulation of the Treg/Th17 balance. 4-HPR reduced the intestinal cell senescence by inhibiting the expression of LCN2 that alleviated the symptoms of ulcerative colitis.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"297"},"PeriodicalIF":3.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12370867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From cardiac injury to omics signatures: a narrative review on biomarkers in septic cardiomyopathy.","authors":"Matteo Guarino, Francesco Luppi, Giacomo Maroncelli, Paolo Baldin, Anna Costanzini, Martina Maritati, Carlo Contini, Biagio Sassone, Roberto De Giorgio, Michele Domenico Spampinato","doi":"10.1007/s10238-025-01842-5","DOIUrl":"https://doi.org/10.1007/s10238-025-01842-5","url":null,"abstract":"<p><strong>Background: </strong>Septic cardiomyopathy (SCM) is a frequent and underdiagnosed complication of sepsis that contributes significantly to patient morbidity and mortality. Its pathophysiology involves myocardial inflammation, mitochondrial dysfunction, and microcirculatory abnormalities. Despite growing recognition, the diagnostic approach to SCM remains inconsistent, and validated biomarkers are lacking.</p><p><strong>Methods: </strong>This narrative review explores the current landscape of SCM biomarkers. PubMed, Scopus, and EMBASE were searched from inception to June 2025.</p><p><strong>Results: </strong>Traditional biomarkers are useful, but nonspecific in the septic context. Emerging biomarkers offer promising diagnostic and prognostic information, particularly in combination. Multi-omics strategies revealed transcriptomic and proteomic profiles to be potentially specific for SCM and may facilitate early detection and risk stratification. However, limitations remain in terms of standardization, assay reproducibility, and clinical translation. Composite biomarker panels and longitudinal monitoring appear to be more informative than single-point measurements.</p><p><strong>Conclusions: </strong>SCM remains a diagnostic challenge, although biomarker research is rapidly evolving. Integrating traditional and emerging biomarkers, supported by multi-omics and computational tools, may enable a shift toward precision medicine in sepsis-related cardiac dysfunction. Future efforts should focus on consensus definitions, validation in prospective cohorts, and biomarker-guided interventions to improve patient outcomes.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"298"},"PeriodicalIF":3.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12370842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evolving trends and clinical-pathological correlations in renal cell carcinoma surgery: a decade-long study at Peking University First Hospital.","authors":"Ke Hu, Ming-Wei Ma, Xue-Song Li, Kai-Wei Yang, Hong-Zhen Li, Xiao-Ying Li, Jia-Yan Chen, Xue-Ying Ren, Qi Shen, Wei Yu, Xian-Shu Gao","doi":"10.1007/s10238-025-01770-4","DOIUrl":"10.1007/s10238-025-01770-4","url":null,"abstract":"<p><p>This study aimed to comprehensively delineate the clinical characteristics, surgical interventions, and evolving trends over the past decade among patients undergoing surgery for renal cell carcinoma (RCC). A retrospective analysis was conducted on the clinical records of 9,110 patients diagnosed with RCC who underwent surgical treatment at Peking University First Hospital between January 2013 and December 2022. Statistical analyses were performed using SPSS 21.0 software. Categorical variables were analyzed using the Chi-square test or Fisher's exact test, as appropriate. Numerical variables were assessed using the t-test or analysis of variance (ANOVA) for normally distributed data, while nonparametric tests were employed for non-normally distributed numerical variables or ordinal data. A p-value of less than 0.05 was considered statistically significant. The study cohort consisted of 6,416 males (70.4%) and 2,694 females (29.6%), with a median age of 55 years. Clear cell renal cell carcinoma (ccRCC) was the most prevalent histological subtype (87.6%), followed by chromophobe renal cell carcinoma (chRCC) (5.1%), papillary renal cell carcinoma (pRCC) (3.7%), and other subtypes (3.6%). Non-ccRCC patients exhibited a significantly higher proportion of advanced T3 + disease staging (19.4% vs. 15%, P < 0.001). Female patients demonstrated higher incidences of both non-ccRCC and special pathology types (P < 0.001), while non-ccRCC and advanced T-stage disease were more common in pediatric patients (P < 0.001) and were more likely to undergo radical nephrectomy (P < 0.001). Over the span of a decade, the demographic characteristics of RCC patients remained relatively stable; however, there was a notable decrease in tumor size over time (P < 0.001). Notably, partial nephrectomy rates surged between 2013 and 2016-reflecting growing acceptance of nephron-sparing techniques-but later balanced with radical nephrectomies as stricter selection criteria emerged, highlighting the dynamic evolution of RCC surgical management. Our study reveals dynamic shifts in RCC management over the past decade, marked by evolving surgical practices and a trend toward smaller tumor sizes at diagnosis, while distinct clinical features in pediatric patients underscore the need for continued refinement of early detection.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"296"},"PeriodicalIF":3.5,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12364738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning-based prediction of gastroesophageal junction cancer using electronic medical records.","authors":"Meng Qian, Ying Chen, Xiaofen Wu, Zhenxiang Wang, Ye Chen, Yan Zhang, Bo Li, Huihui Sun, Shuchang Xu","doi":"10.1007/s10238-025-01835-4","DOIUrl":"10.1007/s10238-025-01835-4","url":null,"abstract":"<p><p>Discriminating whether esophageal-related symptoms result from gastroesophageal junction cancer (GEJC) is challenging in clinical practice. This study aimed to develop and validate a tool to predict the likelihood of GEJC in patients with esophageal-related symptoms. The electronic medical record system was accessed to identify patients diagnosed with GEJC or gastroesophageal reflux disease (GERD) at our hospital between 2009 and 2023. Predictive variables included demographic characteristics, symptoms, and laboratory results. After propensity score matching, significant features of GEJC were screened using the least absolute shrinkage and selection operator (LASSO), Boruta, and logistic regression analysis. Patients were randomly divided into training and test cohorts in a 2:1 ratio. Four machine learning models were trained and validated for predicting GEJC patients. Model performance was evaluated using the area under the receiver operating characteristic curve (AUC), residual analysis, calibration curve, and Brier score. Additionally, Shapley Additive exPlanations analysis was used to explain the importance of different features. After matching, 401 GEJC patients were enrolled and compared with 401 GERD controls. Using the variables identified by LASSO, Boruta, and logistic regression analysis, we constructed four machine learning models including random forest, generalized linear model, extreme gradient boosting (XGBoost), and support vector machine. XGBoost exhibited better predictive performance with an AUC of 0.907 in the test cohort. The calibration curve of the XGBoost model also demonstrated strong consistency with a Brier score of 0.088. Body mass index, hemoglobin, age, reflux, and dysphagia were found to be significant influences on the model output. We developed a well-performing model for predicting GEJC using electronic medical records. Implementing this prediction tool in clinical practice may guide diagnostic strategies and provide appropriate interventions.</p>","PeriodicalId":10337,"journal":{"name":"Clinical and Experimental Medicine","volume":"25 1","pages":"295"},"PeriodicalIF":3.5,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12358332/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}