中国当代儿科杂志最新文献

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[Molecular targeted therapy for progressive low-grade gliomas in children]. [分子靶向治疗儿童进行性低级别胶质瘤]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2410012
Yan-Ling Sun, Miao Li, Jing-Jing Liu, Wen-Chao Gao, Yue-Fang Wu, Lu-Lu Wan, Si-Qi Ren, Shu-Xu DU, Wan-Shui Wu, Li-Ming Sun
{"title":"[Molecular targeted therapy for progressive low-grade gliomas in children].","authors":"Yan-Ling Sun, Miao Li, Jing-Jing Liu, Wen-Chao Gao, Yue-Fang Wu, Lu-Lu Wan, Si-Qi Ren, Shu-Xu DU, Wan-Shui Wu, Li-Ming Sun","doi":"10.7499/j.issn.1008-8830.2410012","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2410012","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the efficacy of molecular targeted agents in children with progressive pediatric low-grade gliomas (pLGG).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on pLGG patients treated with oral targeted therapies at the Department of Pediatrics, Beijing Shijitan Hospital, Capital Medical University, from July 2021. Treatment responses and safety profiles were assessed.</p><p><strong>Results: </strong>Among the 20 enrolled patients, the trametinib group (<i>n</i>=12, including 11 cases with <i>BRAF</i> fusions and 1 case with <i>BRAF V600E</i> mutation) demonstrated 4 partial responses (33%) and 2 minor responses (17%), with a median time to response of 3.0 months. In the vemurafenib group (<i>n</i>=6, all with <i>BRAF V600E</i> mutation), 5 patients achieved partial responses (83%), showing a median time to response of 1.0 month. Comparative analysis revealed no statistically significant difference in progression-free survival rates between the two treatment groups (<i>P</i>>0.05). The median duration of clinical benefit (defined as partial response + minor response + stable disease) was 11.0 months for vemurafenib and 18.0 months for trametinib. Two additional cases, one with <i>ATM</i> mutation treated with olaparib for 24 months and one with <i>NF1</i> mutation receiving everolimus for 21 months, discontinued treatment due to sustained disease stability. No severe adverse events were observed in any treatment group.</p><p><strong>Conclusions: </strong>Molecular targeted therapy demonstrates clinical efficacy with favorable tolerability in pLGG. Vemurafenib achieves high response rates and induces early tumor shrinkage in patients with <i>BRAF V600E</i> mutations, supporting its utility as a first-line therapy.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"682-689"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Prognostic significance of molecular minimal residual disease before and after allogeneic hematopoietic stem cell transplantation in children with acute myeloid leukemia]. [同种异体造血干细胞移植前后分子微小残留病对急性髓性白血病患儿预后的意义]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2410118
Xiu-Wen Xu, Hao Xiong, Jian-Xin Li, Zhi Chen, Fang Tao, Yu DU, Zhuo Wang, Li Yang, Wen-Jie Lu, Ming Sun
{"title":"[Prognostic significance of molecular minimal residual disease before and after allogeneic hematopoietic stem cell transplantation in children with acute myeloid leukemia].","authors":"Xiu-Wen Xu, Hao Xiong, Jian-Xin Li, Zhi Chen, Fang Tao, Yu DU, Zhuo Wang, Li Yang, Wen-Jie Lu, Ming Sun","doi":"10.7499/j.issn.1008-8830.2410118","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2410118","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the prognostic value of molecular minimal residual disease (Mol-MRD) monitored before and after allogeneic hematopoietic stem cell transplantation (HSCT) in pediatric acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>Clinical data of 71 pediatric AML patients who underwent HSCT between August 2016 and December 2023 were analyzed. Mol-MRD levels were dynamically monitored in MRD-positive patients, and survival outcomes were evaluated.</p><p><strong>Results: </strong>No significant difference in the 3-year overall survival (OS) rate was observed between patients with pre-HSCT Mol-MRD ≥0.01% and <0.01% (77.3% ± 8.9% vs 80.4% ± 7.9%, <i>P</i>=0.705). However, patients with pre-HSCT Mol-MRD <1.75% had a significantly higher 3-year OS rate than those with Mol-MRD ≥1.75% (86.6% ± 5.6% vs 44.4% ± 16.6%, <i>P</i>=0.020). The median Mol-MRD level in long-term survivors was significantly lower than in non-survivors [0.61% (range: 0.04%-51.58%)] vs 10.60% (range: 1.90%-19.75%), <i>P</i>=0.035]. Concurrent flow cytometry-based MRD positivity was significantly higher in non-survivors (80% vs 24%, <i>P</i>=0.039). There was no significant difference in the 3-year overall survival rate between patients with Mol-MRD ≥0.01% and those with <0.01% at 30 days post-HSCT (<i>P</i>=0.527). For children with Mol-MRD <0.22% at 30 days post-HSCT, the 3-year overall survival rate was 80.4% ± 5.9%, showing no significant difference compared to those with molecular negativity (87.0% ± 7.0%) (<i>P</i>=0.523).</p><p><strong>Conclusions: </strong>Patients with pre-HSCT Mol-MRD <1.75% or post-HSCT Mol-MRD <0.22% may achieve long-term survival outcomes comparable to Mol-MRD-negative cases through HSCT and targeted interventions.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"675-681"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Prognostic value of serum CD4+ and NK cells for the treatment response in children with aplastic anemia]. [血清CD4+和NK细胞对再生障碍性贫血患儿治疗反应的预后价值]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2410063
Chun-Can Wu, Mei Yan, Hailiguli Nuriddin, Xu-Kai Ma, Yu Liu
{"title":"[Prognostic value of serum CD4<sup>+</sup> and NK cells for the treatment response in children with aplastic anemia].","authors":"Chun-Can Wu, Mei Yan, Hailiguli Nuriddin, Xu-Kai Ma, Yu Liu","doi":"10.7499/j.issn.1008-8830.2410063","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2410063","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the clinical value of CD4⁺ cell percentage (CD4⁺%) and NK cell percentage (NK%) in predicting treatment outcomes in children with aplastic anemia (AA), providing a reference for precise diagnosis and treatment.</p><p><strong>Methods: </strong>This retrospective study analyzed the clinical data of AA children treated with cyclosporine A at the First Affiliated Hospital of Xinjiang Medical University from January 2019 to April 2024. The study involved 48 AA children as the observation group and 50 children undergoing medical check-ups during the same period as the control group. Lymphocyte subset data were collected from both groups to analyze differences and their relationship with treatment efficacy. Based on hematological responses, the observation group was divided into an effective group of 18 patients (HR group, including complete and partial remission) and an ineffective group of 30 patients (NHR group, including non-remission).</p><p><strong>Results: </strong>Univariate analysis showed that NK% in the observation group was significantly lower than that in the control group (<i>P</i><0.05). The observation group was followed up for 3 months. The HR group had a lower CD4⁺% than the NHR group (<i>P</i>=0.018) and a higher NK% than the NHR group (<i>P</i>=0.029). Multivariate logistic regression analysis indicated that a high CD4⁺% was a risk factor for poor treatment efficacy (<i>OR</i>=1.062), whereas a high NK% was a protective factor (<i>OR</i>=0.820). The area under the curve for the prediction of HR in pediatric AA by combining CD4⁺% and NK% was 0.812.</p><p><strong>Conclusions: </strong>A higher CD4⁺% at diagnosis is a predictor of poor treatment response, whereas a higher NK% is associated with better outcomes.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"690-695"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia]. [儿童b细胞急性淋巴细胞白血病拷贝数改变的研究进展]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2501007
Xi-Yuan Xu, Qun Hu
{"title":"[Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia].","authors":"Xi-Yuan Xu, Qun Hu","doi":"10.7499/j.issn.1008-8830.2501007","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2501007","url":null,"abstract":"<p><p>Copy number alteration (CNA) is a significant genetic change in pediatric B-cell acute lymphoblastic leukemia (B-ALL), with <i>CDKN2A/B</i> deletions, <i>PAX5</i> deletions, and <i>IKZF1</i> deletions being the most common. Recent studies have increasingly highlighted the potential prognostic significance of these gene deletions and multiple co-deletions in pediatric B-ALL. This paper reviews the main detection methods for CNA, as well as the prognostic characteristics and treatment approaches for common CNA in pediatric B-ALL.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"746-752"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Investigating the correlation between white matter injury and cerebral perfusion in preterm infants using arterial spin labeling]. [应用动脉自旋标记法研究早产儿脑灌注与脑白质损伤的关系]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2501047
Xiang-Bo Kong, Fan-Yue Qin, Wen-Li Duan, Lin Lu, Xiao-Chan Guo, Yan-Ran Xue, Yin-Gang Hong, Fa-Lin Xu
{"title":"[Investigating the correlation between white matter injury and cerebral perfusion in preterm infants using arterial spin labeling].","authors":"Xiang-Bo Kong, Fan-Yue Qin, Wen-Li Duan, Lin Lu, Xiao-Chan Guo, Yan-Ran Xue, Yin-Gang Hong, Fa-Lin Xu","doi":"10.7499/j.issn.1008-8830.2501047","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2501047","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the relationship between white matter injury (WMI) and cerebral perfusion in preterm infants using arterial spin labeling (ASL).</p><p><strong>Methods: </strong>A total of 293 preterm infants (gestational age <34 weeks) hospitalized at the Third Affiliated Hospital of Zhengzhou University between June 2022 and June 2024 were included. After achieving clinical stability, the infants underwent brain magnetic resonance imaging (MRI) and ASL. Based on MRI findings, infants were classified into WMI (<i>n</i>=66) and non-WMI (<i>n</i>=227) groups. Cerebral perfusion parameters were compared between groups, and the association between WMI and perfusion alterations was evaluated.</p><p><strong>Results: </strong>The WMI group showed a higher incidence of mild intraventricular hemorrhage (IVH) than the non-WMI group (<i>P</i><0.05). Significantly lower cerebral perfusion was observed in the WMI group across bilateral frontal, temporal, parietal, and occipital lobes, as well as the basal ganglia and thalamus (<i>P</i><0.05). After adjusting for gestational age, corrected gestational age at ASL scan, and mild IVH, WMI remained significantly associated with reduced regional perfusion (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>WMI in preterm infants correlates with localized cerebral hypoperfusion. ASL-detected perfusion abnormalities may provide novel insights into WMI pathogenesis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"661-667"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Risk factors and development of a predictive model for myocardial injury in children with rotavirus-induced diarrhea]. [轮状病毒引起的腹泻患儿心肌损伤的危险因素和预测模型的建立]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2412032
Li-Ping Feng, Xiao-Gang Wang, Wen-Si Niu, Jin-Jin Shi, Hong-Ying Wang
{"title":"[Risk factors and development of a predictive model for myocardial injury in children with rotavirus-induced diarrhea].","authors":"Li-Ping Feng, Xiao-Gang Wang, Wen-Si Niu, Jin-Jin Shi, Hong-Ying Wang","doi":"10.7499/j.issn.1008-8830.2412032","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2412032","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the incidence of myocardial injury in children with rotavirus-induced diarrhea, analyze its risk factors, and develop a predictive model for myocardial injury.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 203 children diagnosed with rotavirus infection at the Suzhou Wujiang District Children's Hospital from January 2021 to December 2023. The children were divided into groups based on the presence or absence of myocardial injury. Basic information and laboratory indicators at admission were collected and compared between the two groups. LASSO regression was used to screen potential risk factors, followed by multivariate logistic regression to evaluate independent factors. A nomogram model was established and validated.</p><p><strong>Results: </strong>Out of 203 children with rotavirus infection, 53 cases (26.1%) showed myocardial injury. Age, severe dehydration, metabolic acidosis, red cell distribution width, and blood sodium were closely associated with myocardial injury in children with rotavirus-induced diarrhea (<i>P</i><0.05). The area under the receiver operating characteristic curve for the predictive model of myocardial injury was 0.841 (95%<i>CI</i>: 0.777-0.905), with a sensitivity of 73.6% and specificity of 85.3%. The model curve closely fit the ideal diagonal line. Decision curve analysis showed that using the model for prediction resulted in the highest net benefit when the probability threshold was 0.18-0.98.</p><p><strong>Conclusions: </strong>The model developed in this study can predict the risk of myocardial injury in children with rotavirus-induced diarrhea.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"709-715"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[GNE gene-related thrombocytopenia: a case report and literature review]. [GNE基因相关性血小板减少1例报告及文献复习]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2412065
Shuo Lin, Xiao-Juan Chen
{"title":"[<i>GNE</i> gene-related thrombocytopenia: a case report and literature review].","authors":"Shuo Lin, Xiao-Juan Chen","doi":"10.7499/j.issn.1008-8830.2412065","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2412065","url":null,"abstract":"<p><strong>Objectives: </strong>To study the clinical characteristics and treatment outcomes of <i>GNE</i> gene-related thrombocytopenia.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the data of one child with <i>GNE</i> gene-related thrombocytopenia, along with a review of cases reported in the literature, focusing on clinical phenotypes and treatment characteristics.</p><p><strong>Results: </strong>Among 31 patients, the onset was primarily in the neonatal period or early childhood, characterized by mucocutaneous bleeding. Twenty-six cases presented with macrothrombocytes, and 4 cases progressed to <i>GNE</i> myopathy in adulthood. Overall treatment efficacy was suboptimal, although 5 cases responded well to thrombopoietic agents.</p><p><strong>Conclusions: </strong><i>GNE</i> gene-related thrombocytopenia is characterized by moderate to severe thrombocytopenia, macrothrombocytes, and a bleeding tendency. Some children may develop secondary <i>GNE</i> myopathy, highlighting the need for early identification and exploration of effective therapies.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"723-730"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Lipid analysis in children with bronchial asthma based on liquid chromatography-mass spectrometry: a prospective study]. [基于液相色谱-质谱法的支气管哮喘儿童脂质分析:一项前瞻性研究]。
中国当代儿科杂志 Pub Date : 2025-06-15 DOI: 10.7499/j.issn.1008-8830.2411112
Te Feng, Li-Na Xie, Yu-Hui Zhang, Yan-Jun Guo
{"title":"[Lipid analysis in children with bronchial asthma based on liquid chromatography-mass spectrometry: a prospective study].","authors":"Te Feng, Li-Na Xie, Yu-Hui Zhang, Yan-Jun Guo","doi":"10.7499/j.issn.1008-8830.2411112","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2411112","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the lipidomic characteristics of children with bronchial asthma (hereafter referred to as asthma) and identify potential biomarkers for asthma.</p><p><strong>Methods: </strong>A total of 26 asthmatic children were prospectively enrolled as the asthma group, and 20 healthy children served as the healthy control group. The asthma group was further divided into atopic (<i>n</i>=13) and non-atopic (<i>n</i>=13) subgroups based on IgE levels. Serum lipid metabolites were analyzed using liquid chromatography-mass spectrometry, followed by statistical analysis and data visualization.</p><p><strong>Results: </strong>A total of 1 435 lipids were detected in the 46 children, primarily glycerophospholipids (625/1 435, 43.55%). Significant differences were observed in serum lipid profiles between the asthma and control groups. Twelve significantly differential lipids were identified, with receiver operating characteristic curve analysis showing that phosphatidylserine (PS)(18:0/20:4) and ceramide (Cer)(c16:0) exhibited the highest diagnostic value for asthma. The relative abundances of PS(18:0/20:4) and PS(18:0/22:6) were higher in the atopic subgroup than in the non-atopic subgroup (<i>P</i><0.05) and positively correlated with total IgE levels in asthmatic children (<i>r</i>=0.675 and 0.740, respectively; <i>P</i><0.05).</p><p><strong>Conclusions: </strong>Asthmatic children exhibit significant lipid metabolic disturbances, primarily characterized by abnormal glycerophospholipid metabolism. Among these, PS(18:0/20:4) and Cer(c16:0) demonstrate specific alterations and may serve as potential diagnostic biomarkers for asthma. Furthermore, the positive correlation between PS(18:0/20:4) and PS(18:0/22:6) levels and serum total IgE suggests their possible involvement in immune regulation in asthma.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"716-722"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[DeepSeek perspective on managing Kawasaki disease in Chinese children]. 【DeepSeek对中国儿童川崎病治疗的看法】。
中国当代儿科杂志 Pub Date : 2025-05-15 DOI: 10.7499/j.issn.1008-8830.2502042
Yan Pan, Fu-Yong Jiao
{"title":"[DeepSeek perspective on managing Kawasaki disease in Chinese children].","authors":"Yan Pan, Fu-Yong Jiao","doi":"10.7499/j.issn.1008-8830.2502042","DOIUrl":"10.7499/j.issn.1008-8830.2502042","url":null,"abstract":"<p><p>Clinical management of Kawasaki disease faces several challenges, including difficulties in early diagnosis, insufficient personalized treatment, delayed access to information, and inefficient multidisciplinary collaboration. This paper explores the application of the DeepSeek AI model in the management of Kawasaki disease: (1) Enhancing early diagnosis accuracy through the integration and analysis of multimodal data (imaging, laboratory, and clinical data); (2) Dynamically adjusting treatment plans to achieve personalized medicine; (3) Integrating the latest global guidelines and research findings in real-time to optimize clinical processes; (4) Providing personalized health education content to enhance parental involvement; (5) Establishing a platform for sharing clinical data to support intelligent decision-making and multidisciplinary collaboration.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 5","pages":"524-528"},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12169877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genetic and clinical characteristics of children with RAS-mutated juvenile myelomonocytic leukemia]. [ras突变的少年型髓细胞白血病的遗传和临床特点]。
中国当代儿科杂志 Pub Date : 2025-05-15 DOI: 10.7499/j.issn.1008-8830.2411018
Yun-Long Chen, Xing-Chen Wang, Chen-Meng Liu, Tian-Yuan Hu, Jing-Liao Zhang, Fang Liu, Li Zhang, Xiao-Juan Chen, Ye Guo, Yao Zou, Yu-Mei Chen, Ying-Chi Zhang, Xiao-Fan Zhu, Wen-Yu Yang
{"title":"[Genetic and clinical characteristics of children with <i>RAS</i>-mutated juvenile myelomonocytic leukemia].","authors":"Yun-Long Chen, Xing-Chen Wang, Chen-Meng Liu, Tian-Yuan Hu, Jing-Liao Zhang, Fang Liu, Li Zhang, Xiao-Juan Chen, Ye Guo, Yao Zou, Yu-Mei Chen, Ying-Chi Zhang, Xiao-Fan Zhu, Wen-Yu Yang","doi":"10.7499/j.issn.1008-8830.2411018","DOIUrl":"10.7499/j.issn.1008-8830.2411018","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with <i>RAS</i> mutations.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of JMML children with <i>RAS</i> mutations treated at the Hematology Hospital of Chinese Academy of Medical Sciences, from January 2008 to November 2022.</p><p><strong>Results: </strong>A total of 34 children were included, with 17 cases (50%) having isolated <i>NRAS</i> mutations, 9 cases (27%) having isolated <i>KRAS</i> mutations, and 8 cases (24%) having compound mutations. Compared to children with isolated <i>NRAS</i> mutations, those with <i>NRAS</i> compound mutations showed statistically significant differences in age at onset, platelet count, and fetal hemoglobin proportion (<i>P</i><0.05). Cox proportional hazards regression model analysis revealed that hematopoietic stem cell transplantation (HSCT) and hepatomegaly (≥2 cm below the costal margin) were factors affecting the survival rate of JMML children with <i>RAS</i> mutations (<i>P</i><0.05); hepatomegaly was a factor affecting survival in the non-HSCT group (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>Children with <i>NRAS</i> compound mutations have a later onset age compared to those with isolated <i>NRAS</i> mutations. At initial diagnosis, children with <i>NRAS</i> compound mutations have poorer peripheral platelet and fetal hemoglobin levels than those with isolated <i>NRAS</i> mutations. Liver size at initial diagnosis is related to the prognosis of JMML children with <i>RAS</i> mutations. HSCT can improve the prognosis of JMML children with <i>RAS</i> mutations.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 5","pages":"548-554"},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12169879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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