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[The microbiota-gut-brain axis in childhood attention-deficit/hyperactivity disorder: mechanisms and therapeutic advances]. [儿童注意力缺陷/多动障碍的微生物-肠道-脑轴:机制和治疗进展]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2503118
Ying-Lun Yuan, Yong-Mei Lan, Lin-Mei Guo

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children. Growing evidence links ADHD to gut microbiota dysbiosis, positioning the microbiota-gut-brain axis as a new focus of childhood ADHD research. This review systematically elucidates the association between gut dysbiosis and childhood ADHD and analyzes key mechanisms by which the microbiota-gut-brain axis regulates bidirectional gut-brain communication through multiple pathways. It highlights recent findings on microbiota-targeted strategies to improve ADHD symptoms and discusses therapeutic prospects, with the aim of exploring new avenues for early intervention and treatment in children with ADHD.

注意缺陷/多动障碍(ADHD)是一种常见的儿童神经发育障碍。越来越多的证据表明ADHD与肠道微生物群失调有关,将微生物群-肠道-大脑轴定位为儿童ADHD研究的新焦点。本综述系统地阐明了肠道生态失调与儿童ADHD之间的关系,并分析了微生物-肠-脑轴通过多种途径调节肠-脑双向通信的关键机制。它强调了以微生物群为目标的策略改善ADHD症状的最新发现,并讨论了治疗前景,旨在探索ADHD儿童早期干预和治疗的新途径。
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引用次数: 0
[Incidence of small for gestational age infants among singleton live births and analysis of risk factors]. [单胎活产小胎龄儿发生率及危险因素分析]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2506109
Yan-Fen Liu, Yu-Tian Liu, Yan-Fang Zhao, Xian-Jun Sun

Objectives: To investigate the incidence of small for gestational age (SGA) infants among singleton live births and identify risk factors.

Methods: Clinical data for 1 020 singleton live-born infants and their mothers at People's Hospital Affiliated to Shandong First Medical University from January 2019 to January 2024 were retrospectively collected. The incidence of SGA was calculated, and univariate and multivariable logistic regression analyses were performed to determine independent risk factors.

Results: Among 1 020 singleton live births, the incidence of SGA was 9.90%. SGA was more frequent in female neonates and in cases with lower placental weight or umbilical cord abnormalities (all P<0.05). Both preterm and post-term birth showed significant linear trends with SGA incidence (P<0.05). Maternal factors associated with higher SGA incidence included age <20 years or ≥35 years, primary-school education or below, low pre-pregnancy body mass index (BMI), insufficient gestational weight gain, gestational hypertension, diabetes, anemia, hyperthyroidism, hypothyroidism, amniotic fluid/placental abnormalities, and smoking history (all P<0.05). Multivariable logistic regression identified preterm birth, post-term birth, low placental weight, umbilical cord abnormalities, low pre-pregnancy BMI, insufficient gestational weight gain, gestational hypertension, anemia during pregnancy, and maternal smoking as independent risk factors for SGA (all P<0.05).

Conclusions: The occurrence of SGA among singleton live births is associated with preterm or post-term delivery, low placental weight, umbilical cord abnormalities, low pre-pregnancy BMI, inadequate gestational weight gain, gestational hypertension, anemia during pregnancy, and maternal smoking. Targeted strengthening of perinatal management is warranted to reduce the risk of SGA.

目的:调查单胎活产婴儿中小于胎龄儿(SGA)的发生率并确定危险因素。方法:回顾性收集2019年1月至2024年1月山东第一医科大学附属人民医院1 020例单胎活产婴儿及其母亲的临床资料。计算SGA的发生率,并进行单因素和多因素logistic回归分析,确定独立危险因素。结果:1 020例单胎活产婴儿中,SGA发生率为9.90%。结论:单胎活产SGA的发生与早产或足月后分娩、胎盘重量低、脐带异常、孕前BMI低、妊娠增重不足、妊娠期高血压、妊娠期贫血、孕产妇吸烟等因素有关。有针对性地加强围产期管理,降低SGA的发生风险。
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引用次数: 0
[Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal hypoglycemia (2025)]. 【初级卫生保健机构新生儿常见病诊治专家共识:新生儿低血糖症(2025)】。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2503049

To help primary healthcare providers promptly identify and effectively treat neonatal hypoglycemia, thereby reducing the risk of hypoglycemic encephalopathy, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association led the development of this expert consensus. Through thorough discussion, experts integrated recent clinical advances to formulate the "Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal hypoglycemia (2025)". This consensus addresses 9 common clinical questions and provides 14 recommendations.

为帮助基层医护人员及时发现并有效治疗新生儿低血糖,从而降低低血糖性脑病的发生风险,中华医学会儿科学分会新生儿科亚专科组牵头制定了本专家共识。专家们通过深入讨论,结合近期临床进展,制定了《基层卫生保健机构新生儿常见病诊治专家共识:新生儿低血糖症(2025)》。这一共识解决了9个常见的临床问题,并提供了14条建议。
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引用次数: 0
[Combined measurement of serum macrophage M1/M2 markers and prediction of early cardiac lesions in obese children]. [肥胖儿童血清巨噬细胞M1/M2标志物测定与早期心脏病变预测]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2504062
Yun-Ping Xu, Yang Liu

Objectives: To study the predictive value of serum macrophage M1/M2 markers for the risk of cardiac lesions in obese children.

Methods: A total of 60 obese children (mild-to-moderate obesity, n=32; severe obesity, n=28) and 50 healthy controls who visited the Second Affiliated Hospital of Nanchang University from June 2024 to December 2024 were included. The baseline characteristics and the levels of laboratory indicators, echocardiographic parameters, and macrophage markers (MCP-1, Arg-1, CD206, and CD86) were compared among the three groups. The correlation between macrophage marker levels and echocardiographic parameters and the influencing factors of cardiac lesions in obese children were analyzed. The receiver operating characteristic curve analysis was used to evaluate the predictive performance of each influencing factor for cardiac lesions in obese children.

Results: Multiple echocardiographic parameters differed significantly among the mild-to-moderate obesity, severe obesity, and control groups (P<0.01). Significant differences were also observed in MCP-1 and Arg-1 levels, CD206 positivity rate, and the CD86/CD206 ratio among the three groups (P<0.05). In obese children, MCP-1 and Arg-1 levels, as well as CD86 and CD206 positivity rates, were correlated with echocardiographic parameters (P<0.05). Univariate logistic regression identified MCP-1, Arg-1, the CD86/CD206 ratio, and the CD206 positivity rate as factors associated with cardiac lesions (P<0.05). The combined prediction model based on these markers yielded an area under the receiver operating characteristic curve of 0.887 (P<0.01).

Conclusions: Combined measurement of macrophage markers can predict the risk of early cardiac lesions in obese children.

目的:探讨血清巨噬细胞M1/M2标志物对肥胖儿童心脏病变风险的预测价值。方法:选取于2024年6月至2024年12月在南昌大学第二附属医院就诊的60例肥胖儿童(轻至中度肥胖,n=32;重度肥胖,n=28)和50例健康对照。比较三组患者的基线特征及实验室指标、超声心动图参数和巨噬细胞标志物(MCP-1、Arg-1、CD206和CD86)水平。分析肥胖儿童巨噬细胞标志物水平与超声心动图参数及心脏病变影响因素的相关性。采用受试者工作特征曲线分析评价各影响因素对肥胖儿童心脏病变的预测效果。结果:在轻度至中度肥胖、重度肥胖和对照组(ppppp)中,多项超声心动图参数存在显著差异。结论:联合测量巨噬细胞标志物可预测肥胖儿童早期心脏病变的风险。
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引用次数: 0
[The application of machine learning in the auxiliary diagnosis of specific learning disorder]. 【机器学习在特殊学习障碍辅助诊断中的应用】。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2504089
Hao Zhao, Shu-Lan Mei, Jing-Yu Wang, Xia Chi

Specific learning disorder (SLD) is a common neurodevelopmental disorder in children that significantly affects academic performance and quality of life. At present, diagnosis mainly relies on standardized tests and professional evaluations, a process that is complex and time-consuming. Multiple studies have shown that machine learning can analyze diverse data, including test scores, handwriting samples, eye movement data, neuroimaging data, and genetic data, to automatically learn the relationships between input features and output labels and achieve efficient prediction. It shows great potential for early screening, auxiliary diagnosis, and research on underlying mechanisms in SLD. This article reviews the applications of machine learning in the auxiliary diagnosis of SLD and discusses its performance when handling different data types.

特殊学习障碍(SLD)是一种常见的儿童神经发育障碍,严重影响学习成绩和生活质量。目前,诊断主要依靠标准化测试和专业评估,这一过程复杂且耗时。多项研究表明,机器学习可以分析多种数据,包括考试成绩、笔迹样本、眼动数据、神经成像数据、基因数据等,自动学习输入特征和输出标签之间的关系,实现高效预测。它在SLD的早期筛查、辅助诊断和潜在机制研究方面具有很大的潜力。本文综述了机器学习在SLD辅助诊断中的应用,并讨论了机器学习在处理不同数据类型时的性能。
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引用次数: 0
[Human umbilical cord mesenchymal stem cells protect against neonatal white matter injury by activating the Nrf2/Keap1/HO-1 signaling pathway]. [人脐带间充质干细胞通过激活Nrf2/Keap1/HO-1信号通路保护新生儿白质损伤]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2504152
Chao Wang, Meng-Xin Wang, Yan-Ping Zhu

Objectives: To investigate whether human umbilical cord mesenchymal stem cells (HUC-MSCs) play protective effects against white matter injury (WMI) in neonatal rats via activation of the nuclear factor-erythroid 2-related factor 2 (Nrf2)/Kelch-like ECH-associated protein 1 (Keap1)/heme oxygenase-1 (HO-1) signaling pathway.

Methods: A neonatal WMI model was established in 3-day-old Sprague-Dawley rats by unilateral common carotid artery ligation combined with hypoxia. The study comprised two parts. (1) Rats were randomized into sham, hypoxia-ischemia (HI), and HUC-MSC groups (n=36 per group); brain tissues were collected at 7, 14, and 21 days after modeling. (2) Rats were randomized into sham, HI, HUC-MSC, and HUC-MSC+ML385 (Nrf2 inhibitor) groups (n=12 per group); tissues were collected 14 days after modeling. Hematoxylin-eosin staining assessed histopathology, and Luxol fast blue staining evaluated myelination. Immunohistochemistry examined the localization and expression of Nrf2, myelin basic protein (MBP), and proteolipid protein (PLP). Immunofluorescence assessed synaptophysin (SYP) and postsynaptic density-95 (PSD-95). Western blotting quantified Nrf2, Keap1, HO-1, SYP, PSD-95, MBP, and PLP. Spatial learning and memory were evaluated by the Morris water maze.

Results: At 7, 14, and 21 days after modeling, the sham group showed intact white matter, whereas the HI group exhibited white matter disruption, cellular vacuolation, and disorganized nerve fibers. These pathological changes were attenuated in the HUC-MSC group. Compared with the HI group, the HUC-MSC group showed increased Nrf2 immunopositivity and protein levels, increased HO-1 protein levels, and decreased Keap1 protein levels (P<0.05). Compared with the HI group, the HUC-MSC group had higher SYP and PSD-95 immunofluorescence intensities and protein levels, higher MBP and PLP positivity and protein levels, increased mean optical density of myelin, more platform crossings, and longer time in the target quadrant (all P<0.05). These improvements were reduced in the HUC-MSC+ML385 group compared with the HUC-MSC group (P<0.05).

Conclusions: HUC-MSCs may promote oligodendrocyte maturation and synaptogenesis after neonatal WMI by activating the Nrf2/Keap1/HO-1 pathway, thereby improving spatial cognitive function.

目的:探讨人脐带间充质干细胞(HUC-MSCs)是否通过激活核因子-红细胞2相关因子2 (Nrf2)/ kelch样ech相关蛋白1 (Keap1)/血红素加氧酶1 (HO-1)信号通路对新生大鼠白质损伤(WMI)起保护作用。方法:采用单侧颈总动脉结扎联合缺氧法建立3日龄Sprague-Dawley大鼠新生WMI模型。这项研究包括两个部分。(1)将大鼠随机分为假手术组、缺氧缺血组和HUC-MSC组(每组36只);造模后第7、14、21天采集脑组织。(2)将大鼠随机分为sham组、HI组、HUC-MSC组和HUC-MSC+ML385 (Nrf2抑制剂)组,每组12只;造模后第14天采集组织。苏木精-伊红染色评估组织病理学,Luxol快速蓝染色评估髓鞘形成。免疫组化检测Nrf2、髓鞘碱性蛋白(MBP)和蛋白脂质蛋白(PLP)的定位和表达。免疫荧光测定突触素(SYP)和突触后密度-95 (PSD-95)。Western blotting定量Nrf2、Keap1、HO-1、SYP、PSD-95、MBP和PLP。Morris水迷宫评价空间学习记忆能力。结果:造模后7、14、21天,假手术组脑白质完整,HI组脑白质破坏,细胞空泡形成,神经纤维紊乱。这些病理变化在HUC-MSC组减弱。与HI组相比,HUC-MSC组Nrf2免疫阳性和蛋白水平升高,HO-1蛋白水平升高,Keap1蛋白水平降低(ppp结论:HUC-MSC可能通过激活Nrf2/Keap1/HO-1通路促进新生儿WMI后少突胶质细胞成熟和突触发生,从而改善空间认知功能。
{"title":"[Human umbilical cord mesenchymal stem cells protect against neonatal white matter injury by activating the Nrf2/Keap1/HO-1 signaling pathway].","authors":"Chao Wang, Meng-Xin Wang, Yan-Ping Zhu","doi":"10.7499/j.issn.1008-8830.2504152","DOIUrl":"10.7499/j.issn.1008-8830.2504152","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate whether human umbilical cord mesenchymal stem cells (HUC-MSCs) play protective effects against white matter injury (WMI) in neonatal rats via activation of the nuclear factor-erythroid 2-related factor 2 (Nrf2)/Kelch-like ECH-associated protein 1 (Keap1)/heme oxygenase-1 (HO-1) signaling pathway.</p><p><strong>Methods: </strong>A neonatal WMI model was established in 3-day-old Sprague-Dawley rats by unilateral common carotid artery ligation combined with hypoxia. The study comprised two parts. (1) Rats were randomized into sham, hypoxia-ischemia (HI), and HUC-MSC groups (<i>n</i>=36 per group); brain tissues were collected at 7, 14, and 21 days after modeling. (2) Rats were randomized into sham, HI, HUC-MSC, and HUC-MSC+ML385 (Nrf2 inhibitor) groups (<i>n</i>=12 per group); tissues were collected 14 days after modeling. Hematoxylin-eosin staining assessed histopathology, and Luxol fast blue staining evaluated myelination. Immunohistochemistry examined the localization and expression of Nrf2, myelin basic protein (MBP), and proteolipid protein (PLP). Immunofluorescence assessed synaptophysin (SYP) and postsynaptic density-95 (PSD-95). Western blotting quantified Nrf2, Keap1, HO-1, SYP, PSD-95, MBP, and PLP. Spatial learning and memory were evaluated by the Morris water maze.</p><p><strong>Results: </strong>At 7, 14, and 21 days after modeling, the sham group showed intact white matter, whereas the HI group exhibited white matter disruption, cellular vacuolation, and disorganized nerve fibers. These pathological changes were attenuated in the HUC-MSC group. Compared with the HI group, the HUC-MSC group showed increased Nrf2 immunopositivity and protein levels, increased HO-1 protein levels, and decreased Keap1 protein levels (<i>P</i><0.05). Compared with the HI group, the HUC-MSC group had higher SYP and PSD-95 immunofluorescence intensities and protein levels, higher MBP and PLP positivity and protein levels, increased mean optical density of myelin, more platform crossings, and longer time in the target quadrant (all <i>P</i><0.05). These improvements were reduced in the HUC-MSC+ML385 group compared with the HUC-MSC group (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>HUC-MSCs may promote oligodendrocyte maturation and synaptogenesis after neonatal WMI by activating the Nrf2/Keap1/HO-1 pathway, thereby improving spatial cognitive function.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 11","pages":"1398-1407"},"PeriodicalIF":0.0,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12688201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543279","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
[Plasma lipidomics-based exploration of potential biomarkers of metastasis in pediatric medulloblastoma]. [基于血浆脂质组学的儿科髓母细胞瘤转移的潜在生物标志物的探索]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2503030
Chun-Jing Yang, Xi-Qiao Xu, Li Bao, Wan-Shui Wu, De-Chun Jiang, Zheng-Yuan Shi

Objectives: To identify potential plasma lipidomic biomarkers that distinguish non-metastatic medulloblastoma (nmMB) from metastatic medulloblastoma (mMB) in children.

Methods: In this prospective study, 17 children with mMB and 20 matched children with nmMB were enrolled. Plasma samples were analyzed using ultra-high-performance liquid chromatography-quadrupole time-of-flight mass spectrometry. Lipid metabolites were evaluated for their associations and diagnostic performance.

Results: Orthogonal partial least squares discriminant analysis based on lipid profiles clearly separated nmMB from mMB, and 14 differential lipids were identified, including DG(18:2/20:4/0:0) and SM(d18:1/20:0). Receiver operating characteristic analysis showed nine metabolites with area under the curve greater than 0.7. Differential lipids were enriched in sphingolipid, glycerophospholipid, and arachidonic acid metabolism, suggesting an association with the metastatic phenotype.

Conclusions: Plasma lipidomics provides a new approach to identify mMB, and the identified lipid metabolites may support early diagnosis and treatment, prognostic assessment, and selection of therapeutic targets for metastatic medulloblastoma.

目的:确定区分儿童非转移性髓母细胞瘤(nmMB)和转移性髓母细胞瘤(mMB)的潜在血浆脂质组学生物标志物。方法:本前瞻性研究纳入17例mMB患儿和20例匹配的nmMB患儿。血浆样品采用超高效液相色谱-四极杆飞行时间质谱分析。评估脂质代谢物的相关性和诊断性能。结果:基于脂质谱的正交偏最小二乘判别分析明确分离了nmMB和mMB,鉴定出DG(18:2/20:4/0:0)和SM(d18:1/20:0)等14种差异脂质。受试者工作特征分析显示曲线下面积大于0.7的代谢物有9种。不同的脂质在鞘脂、甘油磷脂和花生四烯酸代谢中富集,表明与转移表型有关。结论:血浆脂质组学提供了一种鉴定mMB的新方法,鉴定出的脂质代谢物可能支持转移性髓母细胞瘤的早期诊断和治疗、预后评估以及治疗靶点的选择。
{"title":"[Plasma lipidomics-based exploration of potential biomarkers of metastasis in pediatric medulloblastoma].","authors":"Chun-Jing Yang, Xi-Qiao Xu, Li Bao, Wan-Shui Wu, De-Chun Jiang, Zheng-Yuan Shi","doi":"10.7499/j.issn.1008-8830.2503030","DOIUrl":"10.7499/j.issn.1008-8830.2503030","url":null,"abstract":"<p><strong>Objectives: </strong>To identify potential plasma lipidomic biomarkers that distinguish non-metastatic medulloblastoma (nmMB) from metastatic medulloblastoma (mMB) in children.</p><p><strong>Methods: </strong>In this prospective study, 17 children with mMB and 20 matched children with nmMB were enrolled. Plasma samples were analyzed using ultra-high-performance liquid chromatography-quadrupole time-of-flight mass spectrometry. Lipid metabolites were evaluated for their associations and diagnostic performance.</p><p><strong>Results: </strong>Orthogonal partial least squares discriminant analysis based on lipid profiles clearly separated nmMB from mMB, and 14 differential lipids were identified, including DG(18:2/20:4/0:0) and SM(d18:1/20:0). Receiver operating characteristic analysis showed nine metabolites with area under the curve greater than 0.7. Differential lipids were enriched in sphingolipid, glycerophospholipid, and arachidonic acid metabolism, suggesting an association with the metastatic phenotype.</p><p><strong>Conclusions: </strong>Plasma lipidomics provides a new approach to identify mMB, and the identified lipid metabolites may support early diagnosis and treatment, prognostic assessment, and selection of therapeutic targets for metastatic medulloblastoma.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 11","pages":"1384-1390"},"PeriodicalIF":0.0,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12688193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145542572","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
[Ultra-early administration of eculizumab in a child with atypical hemolytic uremic syndrome: a case report]. [非典型溶血性尿毒症综合征患儿超早期给药eculizumab 1例报告]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2503084
Dan-Dan Guo, Yi-Xin Xiao, Wei-Rui Wang, Xiao-Lu Deng, Ye-Hong Huang

A 10-year-old girl was admitted with a 38-hour history of widespread subcutaneous petechiae and hematuria and a 6-hour history of jaundice and oliguria. Physical examination revealed widespread subcutaneous petechiae and jaundice of the skin and sclera. Laboratory tests showed anemia, thrombocytopenia, acute kidney injury, and markedly elevated lactate dehydrogenase. Thrombotic microangiopathy was initially diagnosed, with a high suspicion of atypical hemolytic uremic syndrome (aHUS). Eculizumab was initiated within 9 hours of admission (within 48 hours of onset). After the first infusion, hemolysis rapidly ceased, and the platelet count and renal function gradually returned to normal. Whole-exome sequencing identified homozygous deletions of CFHR1 exon 2 and CFHR4 exon 1. aHUS typically has abrupt onset and rapid progression. Clinicians should maintain high suspicion for aHUS when the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury is present. Ultra-early eculizumab (within 48 hours of onset) rapidly blocks complement-mediated thrombotic microangiopathy, reverses organ injury, and improves long-term prognosis. Additionally, complement-related genetic testing is important for etiological clarification and individualized determination of eculizumab treatment duration.

一名10岁女孩入院,有38小时广泛皮下积点和血尿病史,6小时黄疸和少尿病史。体格检查发现广泛的皮下瘀点和皮肤及巩膜黄疸。实验室检查显示贫血、血小板减少、急性肾损伤和乳酸脱氢酶明显升高。最初诊断为血栓性微血管病,高度怀疑非典型溶血性尿毒症综合征(aHUS)。Eculizumab在入院9小时内(发病48小时内)开始使用。第一次输注后,溶血迅速停止,血小板计数和肾功能逐渐恢复正常。全外显子组测序发现CFHR1外显子2和CFHR4外显子1纯合缺失。aHUS通常发病突然,进展迅速。当出现血小板减少症、微血管病性溶血性贫血和急性肾损伤三联征时,临床医生应对aHUS保持高度怀疑。超早期eculizumab(48小时内发病)快速阻断补体介导的血栓性微血管病变,逆转器官损伤,改善长期预后。此外,补体相关基因检测对于明确病因和个体化确定eculizumab治疗时间也很重要。
{"title":"[Ultra-early administration of eculizumab in a child with atypical hemolytic uremic syndrome: a case report].","authors":"Dan-Dan Guo, Yi-Xin Xiao, Wei-Rui Wang, Xiao-Lu Deng, Ye-Hong Huang","doi":"10.7499/j.issn.1008-8830.2503084","DOIUrl":"10.7499/j.issn.1008-8830.2503084","url":null,"abstract":"<p><p>A 10-year-old girl was admitted with a 38-hour history of widespread subcutaneous petechiae and hematuria and a 6-hour history of jaundice and oliguria. Physical examination revealed widespread subcutaneous petechiae and jaundice of the skin and sclera. Laboratory tests showed anemia, thrombocytopenia, acute kidney injury, and markedly elevated lactate dehydrogenase. Thrombotic microangiopathy was initially diagnosed, with a high suspicion of atypical hemolytic uremic syndrome (aHUS). Eculizumab was initiated within 9 hours of admission (within 48 hours of onset). After the first infusion, hemolysis rapidly ceased, and the platelet count and renal function gradually returned to normal. Whole-exome sequencing identified homozygous deletions of <i>CFHR1</i> exon 2 and <i>CFHR4</i> exon 1. aHUS typically has abrupt onset and rapid progression. Clinicians should maintain high suspicion for aHUS when the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury is present. Ultra-early eculizumab (within 48 hours of onset) rapidly blocks complement-mediated thrombotic microangiopathy, reverses organ injury, and improves long-term prognosis. Additionally, complement-related genetic testing is important for etiological clarification and individualized determination of eculizumab treatment duration.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 11","pages":"1408-1413"},"PeriodicalIF":0.0,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12688181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145542900","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
[Allogeneic hematopoietic stem cell transplantation for pediatric acute leukemia harboring the PICALM-MLLT10 fusion in two cases]. 异基因造血干细胞移植治疗小儿急性白血病PICALM-MLLT10融合2例
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2503092
Yu Chen, Yong-Bing Zhu, Jia-Si Zhang, Ai Zhang, Ya-Qin Wang, Qun Hu, Ai-Guo Liu

A retrospective analysis was conducted on the clinical course of two children with PICALM-MLLT10-positive acute leukemia treated at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, between July 2021 and July 2023. The patients were diagnosed with acute T-lymphoblastic leukemia with central nervous system involvement and high-risk acute myeloid leukemia, respectively. Both achieved bone marrow complete remission after conventional chemotherapy combined with venetoclax. Following conversion to molecular negativity, they underwent sequential allogeneic hematopoietic stem cell transplantation. At the latest follow-up, both patients were alive and in good clinical condition. These observations suggest that proceeding to hematopoietic stem cell transplantation after venetoclax-based chemotherapy may improve the long-term survival of children with PICALM-MLLT10-positive leukemia.

回顾性分析2021年7月至2023年7月在华中科技大学同济医学院同济医院治疗的2例picalm - mllt10阳性急性白血病患儿的临床过程。患者分别被诊断为累及中枢神经系统的急性t淋巴细胞白血病和高危急性髓性白血病。在常规化疗联合venetoclax后,两例患者均达到骨髓完全缓解。在转化为分子阴性后,他们接受了顺序的异基因造血干细胞移植。最新随访时,两例患者均存活,临床状况良好。这些观察结果表明,在venetoclax为基础的化疗后进行造血干细胞移植可能会提高picalm - mllt10阳性白血病儿童的长期生存率。
{"title":"[Allogeneic hematopoietic stem cell transplantation for pediatric acute leukemia harboring the <i>PICALM-MLLT10</i> fusion in two cases].","authors":"Yu Chen, Yong-Bing Zhu, Jia-Si Zhang, Ai Zhang, Ya-Qin Wang, Qun Hu, Ai-Guo Liu","doi":"10.7499/j.issn.1008-8830.2503092","DOIUrl":"10.7499/j.issn.1008-8830.2503092","url":null,"abstract":"<p><p>A retrospective analysis was conducted on the clinical course of two children with <i>PICALM-MLLT10</i>-positive acute leukemia treated at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, between July 2021 and July 2023. The patients were diagnosed with acute T-lymphoblastic leukemia with central nervous system involvement and high-risk acute myeloid leukemia, respectively. Both achieved bone marrow complete remission after conventional chemotherapy combined with venetoclax. Following conversion to molecular negativity, they underwent sequential allogeneic hematopoietic stem cell transplantation. At the latest follow-up, both patients were alive and in good clinical condition. These observations suggest that proceeding to hematopoietic stem cell transplantation after venetoclax-based chemotherapy may improve the long-term survival of children with <i>PICALM-MLLT10</i>-positive leukemia.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 11","pages":"1414-1419"},"PeriodicalIF":0.0,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12688185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543123","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
[Research progress and optimization strategies for early screening of type 1 diabetes]. [1型糖尿病早期筛查研究进展及优化策略]。
Q3 Medicine Pub Date : 2025-11-15 DOI: 10.7499/j.issn.1008-8830.2505123
Qi-Jun Song, Yan Sun

The prevalence of type 1 diabetes (T1DM) is increasing annually, and its complications seriously impair the quality of life of affected children. Early screening for T1DM helps reduce the occurrence of diabetic ketoacidosis, protect β-cell function, and delay disease onset in high-risk populations. This article summarizes current domestic and international screening technologies for T1DM. Screening methods remain centered on detection of diabetes-related antibodies and glycometabolic markers, while factors related to disease pathogenesis hold promise as sensitive screening markers. Expanding T1DM screening in China is expected to improve early diagnosis and treatment.

1型糖尿病(T1DM)的患病率逐年上升,其并发症严重影响患儿的生活质量。在高危人群中,早期筛查T1DM有助于减少糖尿病酮症酸中毒的发生,保护β细胞功能,延缓疾病的发生。本文对目前国内外T1DM筛查技术进行了综述。筛查方法仍然集中于检测糖尿病相关抗体和糖代谢标志物,而与疾病发病机制相关的因素有望成为敏感的筛查标志物。在中国扩大T1DM筛查有望改善早期诊断和治疗。
{"title":"[Research progress and optimization strategies for early screening of type 1 diabetes].","authors":"Qi-Jun Song, Yan Sun","doi":"10.7499/j.issn.1008-8830.2505123","DOIUrl":"10.7499/j.issn.1008-8830.2505123","url":null,"abstract":"<p><p>The prevalence of type 1 diabetes (T1DM) is increasing annually, and its complications seriously impair the quality of life of affected children. Early screening for T1DM helps reduce the occurrence of diabetic ketoacidosis, protect β-cell function, and delay disease onset in high-risk populations. This article summarizes current domestic and international screening technologies for T1DM. Screening methods remain centered on detection of diabetes-related antibodies and glycometabolic markers, while factors related to disease pathogenesis hold promise as sensitive screening markers. Expanding T1DM screening in China is expected to improve early diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 11","pages":"1310-1316"},"PeriodicalIF":0.0,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12688179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145542881","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
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中国当代儿科杂志
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