中国当代儿科杂志最新文献

筛选
英文 中文
[Recent advances in individualized treatment for pediatric high-risk B-cell acute lymphoblastic leukemia]. [儿童高危b细胞急性淋巴细胞白血病个体化治疗的最新进展]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2504146
Yu-Qi Li, Ya-Jie Wang, Zeng-Zheng Li, Jun-Xue Ni
{"title":"[Recent advances in individualized treatment for pediatric high-risk B-cell acute lymphoblastic leukemia].","authors":"Yu-Qi Li, Ya-Jie Wang, Zeng-Zheng Li, Jun-Xue Ni","doi":"10.7499/j.issn.1008-8830.2504146","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2504146","url":null,"abstract":"<p><p>B-cell acute lymphoblastic leukemia (B-ALL) is the most common hematologic malignancy in children. High-risk B-ALL, due to factors such as poor early treatment response and adverse genetic features, is prone to drug resistance and relapse, resulting in an unfavorable prognosis and posing a major clinical challenge. In recent years, risk stratification based on molecular subtyping has driven optimization of therapeutic strategies, and precision, individualized treatment has become the focus of clinical research and practice. This review summarizes the research progress in individualized therapy for pediatric high-risk B-ALL, with the aim of providing a theoretical basis for clinical diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"508-513"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784465","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
[Explanation and interpretation of pediatric blood requirement recommendations in the national health standard "Guideline for pediatric transfusion"]. 【国家卫生标准《小儿输血指南》中小儿血需要量建议的说明与解读】。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2507004
Rong Huang, Qing-Nan He, Ming-Yan Hei, Ming-Hua Yang, Xiao-Fan Zhu, Jun Lu, Xiao-Jun Xu, Tian-Ming Yuan, Rong Zhang, Xu Wang, Jin-Ping Liu, Jing Wang, Zhi-Li Shao, Ming-Yi Zhao, Yong-Jian Guo, Xin-Yin Wu, Jia-Rui Chen, Qi-Rong Chen, Jia Guo, Rong Gui
{"title":"[Explanation and interpretation of pediatric blood requirement recommendations in the national health standard \"Guideline for pediatric transfusion\"].","authors":"Rong Huang, Qing-Nan He, Ming-Yan Hei, Ming-Hua Yang, Xiao-Fan Zhu, Jun Lu, Xiao-Jun Xu, Tian-Ming Yuan, Rong Zhang, Xu Wang, Jin-Ping Liu, Jing Wang, Zhi-Li Shao, Ming-Yi Zhao, Yong-Jian Guo, Xin-Yin Wu, Jia-Rui Chen, Qi-Rong Chen, Jia Guo, Rong Gui","doi":"10.7499/j.issn.1008-8830.2507004","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2507004","url":null,"abstract":"<p><p>In 2022, China's National Health Commission issued the health standard \"Guideline for pediatric transfusion\" (WS/T 795-2022), which provides guidance and recommendations on overall pediatric blood requirements, blood for exchange transfusion, and the use of irradiated red blood cells, washed red blood cells, and fresh red blood cells. This article explains the rationale and evidence base underlying these recommendations to facilitate a clearer understanding of the guideline.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"410-416"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784223","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
[Guideline for allogeneic hematopoietic stem cell transplantation in the treatment of transfusion-dependent thalassemia in China (2026)]. [中国异基因造血干细胞移植治疗输血依赖性地中海贫血指南(2026)]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2510038
{"title":"[Guideline for allogeneic hematopoietic stem cell transplantation in the treatment of transfusion-dependent thalassemia in China (2026)].","authors":"","doi":"10.7499/j.issn.1008-8830.2510038","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2510038","url":null,"abstract":"<p><p>A comprehensive retrieval, evaluation, selection, and integration of literature on allogeneic hematopoietic stem cell transplantation (allo-HSCT) for transfusion-dependent thalassemia (TDT) published over the past decade was conducted. For 10 clinical questions related to allo-HSCT in TDT, 26 recommendations were developed. The guideline aims to guide and standardize clinical diagnosis and treatment practices of allo-HSCT for TDT in China.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"389-401"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784336","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
[Association between early transpyloric feeding and the risk of bronchopulmonary dysplasia in very preterm/extremely preterm infants]. [极早产儿/极早产儿早期经幽门喂养与支气管肺发育不良风险的关系]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2507130
Lian Wang, Zhu-Xin Zhang, Xin-Zhu Lin
{"title":"[Association between early transpyloric feeding and the risk of bronchopulmonary dysplasia in very preterm/extremely preterm infants].","authors":"Lian Wang, Zhu-Xin Zhang, Xin-Zhu Lin","doi":"10.7499/j.issn.1008-8830.2507130","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2507130","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the effect of early transpyloric feeding (ETPF) on the risk of bronchopulmonary dysplasia (BPD) in very preterm/extremely preterm infants (gestational age <32 weeks).</p><p><strong>Methods: </strong>A total of 87 very preterm/extremely preterm infants admitted to the Neonatal Intensive Care Unit of Xiamen Maternal and Child Health Hospital between April 2022 and December 2024 were included. According to the feeding tube placement method, infants were divided into an ETPF group (<i>n</i>=42) and an orogastric tube feeding (OGTF) group (<i>n</i>=45). Nutritional indicators, oxygen use, and the incidence of BPD were compared between the two groups. Multivariable logistic regression analysis was performed to evaluate the association between ETPF and the risk of BPD.</p><p><strong>Results: </strong>Compared with the OGTF group, the ETPF group had a significantly lower incidence of feeding intolerance (<i>P</i><0.05), higher milk volume and caloric intake at week 2 of hospitalization (<i>P</i><0.05), and significantly shorter time to achieve full enteral feeding, time to reach an oral caloric intake of 110 kcal/(kg·d), and time to reach a total caloric intake of 110 kcal/(kg·d) (all <i>P</i><0.05). The incidence of BPD was significantly lower in the ETPF group than in the OGTF group (<i>P</i><0.05). Multivariable logistic regression analysis showed that ETPF was an independent factor associated with a reduced risk of BPD (<i>OR</i>=0.286, 95%<i>CI</i>: 0.089-0.922).</p><p><strong>Conclusions: </strong>ETPF improves enteral feeding tolerance in very preterm/extremely preterm infants, enables earlier establishment of full enteral feeding, and reduces the risk of BPD.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"438-445"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784720","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
[Inhibition of ferroptosis by geniposide via activation of the SIRT3 signaling pathway to alleviate inflammatory injury in endothelial cells]. 【京尼平苷通过激活SIRT3信号通路抑制内皮细胞炎症损伤】。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2507089
Wen-Ting Sun, Miao-Miao Zhao, Zhao-Ling Shi
{"title":"[Inhibition of ferroptosis by geniposide via activation of the SIRT3 signaling pathway to alleviate inflammatory injury in endothelial cells].","authors":"Wen-Ting Sun, Miao-Miao Zhao, Zhao-Ling Shi","doi":"10.7499/j.issn.1008-8830.2507089","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2507089","url":null,"abstract":"<p><strong>Objectives: </strong>To study the effect and mechanism of geniposide (GE) on lipopolysaccharide (LPS)-induced inflammatory injury in human coronary artery endothelial cells (HCAECs).</p><p><strong>Methods: </strong>HCAECs were randomly assigned to four groups: control (no treatment); model (LPS 20 ng/mL for 24 hours); GE (GE 30 μg/mL pretreatment for 12 hours, followed by LPS 20 ng/mL for 24 hours); and SIRT3 inhibitor (GE 40 μg/mL plus the SIRT3-specific inhibitor 3-TYP pretreatment for 12 hours, followed by LPS 20 ng/mL for 24 hours). Cell viability was assessed by CCK-8 assay. Lactate dehydrogenase (LDH) activity in culture medium and intracellular malondialdehyde (MDA), glutathione (GSH), and ferrous ion (Fe<sup>2+</sup>) levels were measured using commercial kits. Reactive oxygen species (ROS) were evaluated by DCFH-DA fluorescent probe method. Western blotting detected the protein expression of silent information regulator 3 (SIRT3), glutathione peroxidase 4 (GPX4), solute carrier family 7 member 11 (SLC7A11), and transferrin receptor 1 (TfR1). SIRT3 expression was examined by immunofluorescence staining.</p><p><strong>Results: </strong>Compared with the control group, the model group showed decreased cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (<i>P</i><0.05), with increased LDH activity, TfR1 protein expression, and MDA, Fe<sup>2+</sup>, and ROS levels (<i>P</i><0.05). Compared with the model group, the GE group exhibited increased cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (<i>P</i><0.05), and decreased LDH activity, TfR1 protein expression, and MDA, Fe<sup>2+</sup>, and ROS levels (<i>P</i><0.05). Compared with the GE group, the SIRT3 inhibitor group showed reduced cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (<i>P</i><0.05), along with elevated LDH activity, TfR1 protein expression, and MDA, Fe<sup>2+</sup>, and ROS levels (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>Geniposide alleviates LPS-induced inflammatory injury in HCAECs, and the mechanism may involve inhibition of ferroptosis and activation of SIRT3 signaling.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"486-492"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784488","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
[Risk factors associated with neurodevelopmental outcomes at 2-3 years of corrected age in extremely preterm infants]. [与极早产儿矫正年龄2-3岁时神经发育结果相关的危险因素]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2508039
Yu-Lan Yang, Xiao-Li Qu, Shi Zhang, Chun-Jin Peng, Na Luo, Hui Zeng, Zhen Wei
{"title":"[Risk factors associated with neurodevelopmental outcomes at 2-3 years of corrected age in extremely preterm infants].","authors":"Yu-Lan Yang, Xiao-Li Qu, Shi Zhang, Chun-Jin Peng, Na Luo, Hui Zeng, Zhen Wei","doi":"10.7499/j.issn.1008-8830.2508039","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2508039","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate neurodevelopmental outcomes and associated risk factors in extremely preterm infants (EPIs) at 2-3 years of corrected age.</p><p><strong>Methods: </strong>A retrospective study included EPIs (EPI group, <i>n</i>=122) at 2-3 years of corrected age who were followed at the High-Risk Infant Clinic of Shenzhen Maternity and Child Healthcare Hospital and normal full-term infants aged 2-3 years (term group; <i>n</i>=154) during the same period from January 2018 to December 2024. Neurodevelopmental outcomes were compared between groups, and risk factors for neurodevelopmental impairment (NDI) in EPIs were analyzed.</p><p><strong>Results: </strong>The EPI group had a lower general developmental quotient and lower developmental quotients in gross motor, hand-eye coordination, and visual performance than the term group (<i>P</i><0.05). In the EPI group, the proportions of no NDI, mild NDI, and moderate-to-severe NDI were 50.8% (62/122), 36.1% (44/122), and 13.1% (16/122), respectively; the proportions with cerebral palsy and global developmental delay were 2.5% (3/122) and 7.4% (9/122), respectively. The proportions of moderate-to-severe NDI and global developmental delay were higher in the EPI group than in the term group (<i>P</i><0.05). The incidence of moderate-to-severe NDI did not differ between EPIs born at 22-24<sup>+6</sup> weeks and those born at 25-27<sup>+6</sup> weeks (<i>P</i>>0.05). Periventricular leukomalacia was a risk factor for moderate-to-severe NDI (<i>OR</i>=13.511, 95%<i>CI</i>: 1.370-133.235) in EPIs, whereas a higher 1-minute Apgar score was protective (<i>OR</i>=0.589, 95%<i>CI</i>: 0.437-0.795).</p><p><strong>Conclusions: </strong>At 2-3 years of corrected age, EPIs have a lower general developmental quotient than term infants, with significant deficits in gross motor, hand-eye coordination, and visual performance. The proportion with NDI is relatively high; periventricular leukomalacia is an important risk factor, and a higher 1-minute Apgar score may confer neurodevelopmental benefits.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"458-463"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784599","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
[Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors]. [串联质谱联合人工智能对新生儿甲基丙二酸血症及相关因素的诊断准确性]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2509094
Peng-Yue Yan, Yang Yu, Shan Jiang, Hong-Wei Li, Hong-Li Wu
{"title":"[Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors].","authors":"Peng-Yue Yan, Yang Yu, Shan Jiang, Hong-Wei Li, Hong-Li Wu","doi":"10.7499/j.issn.1008-8830.2509094","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2509094","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the diagnostic accuracy of tandem mass spectrometry (MS/MS) combined with artificial intelligence (AI) for neonatal methylmalonic acidemia (MMA), and to identify factors associated with diagnostic accuracy.</p><p><strong>Methods: </strong>A total of 246 neonates with positive initial MMA screening at Qinhuangdao Maternal and Child Health Hospital from January 2019 to December 2024 were recalled for confirmatory testing. Using genetic diagnosis as the reference standard, all cases underwent MS/MS diagnosis, AI diagnosis, and combined diagnosis (MS/MS plus AI). Sensitivity, specificity, accuracy, and other diagnostic performance indices were calculated; agreement with genetic diagnosis was assessed; and multivariable logistic regression was performed to identify factors associated with diagnostic accuracy.</p><p><strong>Results: </strong>The combined diagnosis yielded a sensitivity of 92.3%, a specificity of 97.0%, and an accuracy of 96.7%, with high agreement with genetic diagnosis (<i>Kappa</i>=0.733). The areas under the receiver operating characteristic curve for combined, MS/MS, and AI diagnoses were 0.914(95%<i>CI</i>: 0.867-0.935), 0.759(95%<i>CI</i>: 0.635-0.816), and 0.669(95%<i>CI</i>: 0.584-0.776), respectively; the area under the curve for the combined diagnosis was significantly higher than that for either MS/MS or AI alone (<i>P</i><0.05). Lower levels of methionine, phenylalanine, ornithine, glycine, blood ammonia, and lactic acid, as well as abnormal electrophysiological findings, were independently associated with diagnostic accuracy (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>MS/MS combined with AI shows high diagnostic accuracy for neonatal MMA. Lower levels of methionine, phenylalanine, ornithine, glycine, blood ammonia, and lactic acid and abnormal electrophysiological findings may affect the diagnostic accuracy of MMA.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"464-469"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784205","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
[Trends, predictions, and etiological characteristics of the incidence and mortality of lower respiratory infections among children under 14 years in China from 1990 to 2021]. [1990 - 2021年中国14岁以下儿童下呼吸道感染发病率和死亡率的趋势、预测和病因学特征]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2503163
Yun Liao, Ying-Ying Lin, Yan-Yu Li, Jing-Hua Yang
{"title":"[Trends, predictions, and etiological characteristics of the incidence and mortality of lower respiratory infections among children under 14 years in China from 1990 to 2021].","authors":"Yun Liao, Ying-Ying Lin, Yan-Yu Li, Jing-Hua Yang","doi":"10.7499/j.issn.1008-8830.2503163","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2503163","url":null,"abstract":"<p><strong>Objectives: </strong>To analyze trends and future projections of lower respiratory infection (LRI) incidence and mortality among children in China from 1990 to 2021, and to compare etiological characteristics across age groups.</p><p><strong>Methods: </strong>Epidemiological data for pediatric LRI in China from 1990 to 2021 were obtained from the Global Burden of Disease database. Comparative analyses examined trends and projections for China, the global population, and high socio-demographic index (SDI) regions. The influence of different pathogens on pediatric LRI in China was also assessed.</p><p><strong>Results: </strong>From 1990 to 2021, the burden of LRI among children in China was lower than the global average but higher than that in high-SDI regions. Incidence and mortality rates showed a significant downward trend, with the most pronounced decline in children under 5 years of age, while the decline in LRI incidence among those aged 10-14 years was slower than the global level for the same age group. Projections for 2022-2040 indicated continued decreases in incidence and mortality of pediatric LRI in China. Bacterial infections remained the predominant cause of pediatric LRI in China. Marked age-specific differences in pathogen spectra were observed: viral LRI burden was higher in children under 5 years than in those aged 5-14 years, whereas the burden due to atypical pathogens was lower in children under 5 years than in those aged 5-14 years.</p><p><strong>Conclusions: </strong>From 1990 to 2021, the overall burden of pediatric LRI in China shows a declining trend and is predicted to continue to decrease. The slower decline in LRI incidence among children aged 10-14 years compared with the global level indicates a weakness in prevention for this age group. Distinct age-specific pathogen profiles suggest the need for age-targeted interventions and continuous surveillance of pathogen spectra.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"470-479"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784602","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
[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province]. 河南省165例缺盐21-羟化酶缺乏症患儿临床及遗传特征分析
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2506116
Hai-Hua Yang, Ai Huang, Yuan Li, Yong-Xing Chen, Hai-Yan Wei
{"title":"[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].","authors":"Hai-Hua Yang, Ai Huang, Yuan Li, Yong-Xing Chen, Hai-Yan Wei","doi":"10.7499/j.issn.1008-8830.2506116","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2506116","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the clinical and genetic characteristics of children with salt-wasting (SW) 21-hydroxylase deficiency (21-OHD) in Henan Province.</p><p><strong>Methods: </strong>Clinical characteristics, laboratory results, and genetic findings were retrospectively reviewed for 165 children with SW 21-OHD who presented to the Department of Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, from August 2007 to November 2023. Associations between clinical characteristics and genotypes were analyzed.</p><p><strong>Results: </strong>Of the 165 patients, 100 were biologically male and 65 female. The median age at diagnosis was 40 days in males and 28 days in females. Skin and mucosal hyperpigmentation occurred in 155 patients (93.9%), vomiting in 151 patients (91.5%), and failure to gain weight in 153 patients (92.7%). All females had clitoral hypertrophy. At presentation, 161 (97.6%) had adrenal crisis. Hyperkalemia (serum potassium >5.5 mmol/L) was present in 83.0% (137/165), and hyponatremia (serum sodium <135 mmol/L) in 93.9% (155/165). Elevated adrenocorticotropic hormone (ACTH) occurred in 96.4% (159/165), decreased cortisol in 90.3% (149/165), and elevated testosterone and 17-hydroxyprogesterone (17-OHP) in 100% (165/165). Six patients with male social gender had a 46,XX karyotype. All patients carried homozygous or compound heterozygous pathogenic variants in <i>CYP21A2</i>; 330 variants representing 29 types were identified, with c.293-13A/C>G (37.3%) and large deletions (22.4%) being most common. Twenty patients carried recombinant alleles between <i>CYP21A2</i> and <i>CYP21A1P</i>. Across genotype groups, serum potassium, sodium, ACTH, testosterone, and cortisol showed no statistically significant differences (<i>P</i>>0.05), whereas 17-OHP levels differed significantly (<i>P<</i>0.05).</p><p><strong>Conclusions: </strong>SW 21-OHD typically presents with adrenal crisis. Hyperkalemia, hyponatremia, elevated 17-OHP, testosterone, and ACTH, together with decreased cortisol, support the diagnosis; definitive confirmation requires genetic testing. Genotype does not fully predict clinical phenotype.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"480-485"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784717","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 on maternal factors influencing the risk of autism spectrum disorder in offspring from a gut-brain axis perspective]. [从肠-脑轴角度看母亲因素对后代自闭症谱系障碍风险的影响研究进展]。
中国当代儿科杂志 Pub Date : 2026-04-15 DOI: 10.7499/j.issn.1008-8830.2511143
Hao-Bo Ding, Chuang Li, Shu-Li Wu
{"title":"[Research progress on maternal factors influencing the risk of autism spectrum disorder in offspring from a gut-brain axis perspective].","authors":"Hao-Bo Ding, Chuang Li, Shu-Li Wu","doi":"10.7499/j.issn.1008-8830.2511143","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2511143","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core features of social communication deficits and repetitive, stereotyped behaviors. Maternal environmental factors during pregnancy are considered important risk factors for ASD in offspring, with mechanisms involving dysbiosis of the maternal and offspring gut microbiota, immune dysregulation, metabolic abnormalities, and neuroinflammation. Specific probiotic interventions show potential during pregnancy and early life to prevent and ameliorate ASD by modulating gut microbiota composition, improving intestinal barrier function, and regulating inflammatory responses and neural signaling pathways. This review systematically summarizes, from a gut-brain axis perspective, the mechanisms by which maternal factors influence ASD risk in offspring and the potential intervention strategies, aiming to provide a theoretical basis and new research directions for the early prevention and intervention of ASD.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"28 4","pages":"514-521"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784489","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书