中华儿科杂志最新文献

{"title":"[A case of cblF type methylmalonic aciduria and homocystinuria].","authors":"J L Jin, D Wu, Y L Yang, Z P Zhao, Y Ding","doi":"10.3760/cma.j.cn112140-20250602-00470","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250602-00470","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1252-1254"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294423","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}

{"title":"[A case of Genitopatellar syndrome due to variant of KAT6B gene].","authors":"S N Li, X Y Chen, K Z Ma","doi":"10.3760/cma.j.cn112140-20250617-00523","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250617-00523","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1255-1257"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294458","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}

{"title":"[Analysis of 7 cases of childhood blastic plasmacytoid dendritic cell neoplasm].","authors":"Z Q Feng, C J Zhou, N N Zhang, L Jin, J Yang, S Huang, M Zhang, N Li, Y L Duan","doi":"10.3760/cma.j.cn112140-20250215-00119","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250215-00119","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the clinical characteristics, pathology, treatment, and prognosis of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in children. <b>Methods:</b> Clinical data (including gender, age of disease onset, affected sites, treatment, timing of allogeneic hematopoietic stem cell transplantation (allo-HSCT), etc.) of 7 children with BPDCN who were admitted to Beijing Children's Hospital, Capital Medical University from December 2018 to December 2023 were analyzed retrospectively. Clinical outcomes were also assessed, with patients followed up until December 2024. <b>Results:</b> Among 7 patients, there were 3 males and 4 females. Age at disease onset ranged from 3.2 to 12.9 years. Initial presentations included subcutaneous nodules in 5 cases, rash in 1 case, and ankle pain in 1 case. Extra-cutaneous involvement was seen in the bone marrow, lymph nodes, and central nervous system. six patients received induction chemotherapy using a modified Lymphoblastic lymphoma LBL regimen, 1 patient received the high-risk protocol for pediatric lymphoblastic lymphoma/leukemia and salvage therapy regimens. Allo-HSCT was performed soon after chemotherapy remission. The time to bridge allo-HSCT was 3.5 to 6.5 months. The follow-up time was 1.6 to 6.0 years. Six patients were in disease-free survival, while one patient survived with disease after recurrence following transplantation. <b>Conclusions:</b> BPDCN is rare in children and presents were with diverse clinical manifestations, with skin involvement being the predominant feature. Early allo-HSCT following complete remission with chemotherapy can improve prognosis.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1207-1211"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294487","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}

{"title":"[Research advances of HNF1B nephropathy and the pathogenetic mechanism of its cystic kidney phenotype].","authors":"Y Q Sun, H Wang","doi":"10.3760/cma.j.cn112140-20250519-00427","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250519-00427","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1270-1274"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294524","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}

{"title":"[Research advances in neonatal brain health].","authors":"Z B Yu, W H Zhou","doi":"10.3760/cma.j.cn112140-20250515-00417","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250515-00417","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1262-1265"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294516","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}

{"title":"[Clinical features analysis of 9 children with ring chromosome syndrome].","authors":"X L Yang, M M Cheng, T Wang, S J Ouyang, Y Sun, Q Z Liu, Y H Zhang, Y Wu","doi":"10.3760/cma.j.cn112140-20250715-00626","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250715-00626","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To analyze the clinical features and diagnostic process of ring chromosome syndrome. &lt;b&gt;Methods:&lt;/b&gt; Clinical data of 9 children with ring chromosome syndrome who were treated at the Children's Medical Center of Peking University First Hospital from September 2009 to May 2025, were summarized and analyzed in a case series study. The data included clinical manifestations, types of epileptic seizures, genetic testing, treatment outcomes, and follow-up results, et al. &lt;b&gt;Results:&lt;/b&gt; Among the 9 children with ring chromosome syndrome, there were 6 girls and 3 boys, including 4 children with ring chromosome 20 syndrome, 3 children with ring chromosome 14 syndrome, and 1 child each with ring chromosome 13 and 17 syndrome. All 9 children had &lt;i&gt;de novo&lt;/i&gt; chromosomal variations. Among them, 3 children of ring chromosome 20 syndrome were mosaic, and the remaining 6 children were non-mosaic. All 9 children exhibited diverse clinical features, especially those with ring chromosome 20 syndrome, which presented with specific manifestations. The 4 children with ring chromosome 20 syndrome all had acute epileptic seizures as the initial symptom, with onset ages of 67, 39, 17, and 96 months, and all had focal seizures. One child with ring chromosome 20 syndrome had non-convulsive status epilepticus. Development of all 4 children with ring chromosome 20 syndrome was normal before seizure onset, but 3 children showed regression after onset. No physical deformities were observed in 4 children with ring chromosome 20 syndrome, and 2 children were misdiagnosed, 3 children underwent whole exome sequencing and copy number variation analysis in their families, with no abnormalities detected. All 4 children with ring chromosome 20 syndrome were diagnosed through chromosomal karyotype analysis, the intervals between onset and diagnosis were 2, 81, 19 and 13 months, respectively. Follow-up showed that epileptic seizures were not controlled in all 4 children with ring chromosome 20 syndrome. The other 5 children were characterized by developmental delay as the initial symptom, followed by epileptic seizures between 3 and 24 months of age. Developmental regression of the other 5 children did not occur after onset, 2 of them had microcephaly, and 3 had wide-set eyes. No misdiagnoses were reported in these 5 children, and the intervals between onset and diagnosis were 7, 3, 55, 3, and 106 months, respectively. Follow-up showed that epileptic seizures were controlled in these 5 children. &lt;b&gt;Conclusions:&lt;/b&gt; Ring chromosome 20 syndrome typically manifest with epilepsy as the initial symptom and are refractory to drug treatment, their early development is entirely normal. Ring chromosome 13, 14, and 17 syndrome are characterized by developmental delay from an early age, followed by the onset of epileptic seizures, which are easily controlled. Conventional whole-exome sequencing and copy number variation analysis in families rarely detect ring chromosome","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1240-1245"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294526","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}

{"title":"[Precision strategies for personalized prophylaxis in pediatric hemophilia with coagulation factor and non-factor therapies].","authors":"R H Wu, T Y Wang","doi":"10.3760/cma.j.cn112140-20250829-00800","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250829-00800","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1167-1169"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294586","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}

{"title":"[Risk factors for poor graft function after allogeneic hematopoietic stem cell transplantation in children with transfusion dependent thalassemia].","authors":"G X Pang, W W Jia, J M Luo, Y Y He","doi":"10.3760/cma.j.cn112140-20250314-00207","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250314-00207","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the risk factors and outcomes of poor graft function (PGF) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with transfusion dependent thalassemia (TDT). <b>Methods:</b> A retrospective cohort study was conducted in 118 pediatric TDT patients who underwent allo-HSCT at the First Affiliated Hospital of Guangxi Medical University from June 30, 2018 to December 31, 2022. Based on PGF diagnostic criteria, patients were categorized into PGF and good graft function (GGF) groups. Clinical features, including pre-transplant baseline characteristics and post-transplant complications, were compared between groups. Inter-group comparisons were conducted by <i>χ</i>² test or Fisher exact test, as appropriate for the data type and distribution. Multivariate Logistic regression identified PGF risk factors, and model performance was assessed by receiver operating characteristic (ROC) curve analysis. Survival analysis was conducted using the Kaplan-Meier method with Log-Rank testing. <b>Results:</b> Among 118 patients, there were 69 males (58.5%) and 49 females (41.5%). Fifteen cases (12.7%) developed PGF while 103 cases (87.3%) achieved GGF. Compared to the GGF group, the PGF group had significantly higher rates of age ≥10 years at transplant, interval from diagnosis to transplant ≥6.7 years, human leukocyte antigen (HLA) mismatch, ABO mismatch, post-transplant BK virus infection, and hemorrhagic cystitis (all <i>P</i><0.05). Multivariate analysis identified independent risk factors for PGF: age ≥10 years (<i>OR</i>=27.20, 95%<i>CI</i> 2.11-350.91), diagnosis-to-transplant interval ≥6.7 years (<i>OR</i>=23.23, 95%<i>CI</i> 1.39-388.23), post-transplant cytomegalovirus (CMV) infection (<i>OR</i>=57.83, 95%<i>CI</i> 3.01-1 111.71), post-transplant and BK virus infection (<i>OR</i>=67.73, 95%<i>CI</i> 2.56-1 794.52). The ROC curve showed an area under curve of 0.92 (95%<i>CI</i> 0.86-0.97, <i>P</i><0.001). The 4-year overall survival rate was significantly lower in the PGF group compared to the GGF group ((53.3±12.9)%<i>vs.</i>(90.2±2.9)%<i>,χ</i>²=16.49,<i>P</i><0.001). <b>Conclusions:</b> Risk factors for PGF in TDT children after allo-HSCT include age ≥10 years at transplantation, time from diagnosis to transplantation ≥6.7 years, post-transplant CMV infection and post-transplant BK virus infection. The PGF patients after allo-HSCT exhibit significantly poorer overall survival compared to those with GGF.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1201-1206"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294595","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}

{"title":"[Two cases of high risk childhood acute myeloid leukemia with positive FUS/TLS∷ERG treated with cladribine-based chemotherapy].","authors":"D D Wang, Y Sun, J Tian, Y A Ni, R Zhong, J Yang, J Jiang, L R Sun, L Z Wang","doi":"10.3760/cma.j.cn112140-20250304-00174","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250304-00174","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1250-1252"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294626","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}

{"title":"[Clinical characteristics and prognosis of childhood-onset Takayasu arteritis involving pulmonary artery].","authors":"Y J Xu, G X Su, D Zhang, M Kang, J Zhu, T Yue, M Li, M Wen, F F Wu, J Hou, S N Li, J M Lai","doi":"10.3760/cma.j.cn112140-20250511-00395","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20250511-00395","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the clinical characteristics, imaging features, risk factors, and prognosis of childhood-onset Takayasu arteritis (TAK) with pulmonary artery involvement. &lt;b&gt;Methods:&lt;/b&gt; A retrospective cohort study was conducted in 107 pediatric patients who were initially diagnosed with childhood-onset TAK at Department of Rheumatology and Immunology, Capital Center for Children's Health, Capital Medical Universiy, from January 2010 to December 2024. Clinical data, including demographic information, imaging features, treatment regimens, and prognosis were collected. Patients were divided into with and without pulmonary artery involvement groups. Intergroup comparisons were performed. Multivariate logistic regression was used to identify risk factors for pulmonary artery involvement. Kaplan-Meier analysis with Log-Rank testing was used for survival analyze. &lt;b&gt;Results:&lt;/b&gt; Among 107 children with TAK, 26 were male, 81 were female, with a diagnosis age of 88 (5, 137) months. Si cases were in the pulmonary artery involvement group and 91 cases in the non-pulmonary artery involvement group. The pulmonary artery involvement group was predominantly female (14 cases), with a diagnosis age of 39 (4, 104) months. The pulmonary artery involvement group had higher incidence rates of fatigue,pulmonary hypertension, right heart failure,superior mesenteric artery involvement,as well as higher neutrophil counts, C-reactive protein (CRP) levels (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). Hemoglobin was lower in the pulmonary artery involvement group (&lt;i&gt;P&lt;/i&gt;&lt;0.05). Imaging findings revealed that all 16 children in the pulmonary artery involvement group showed signs of pulmonary arterial wall thickening. Other manifestations included dilation in 2 cases, stenosis in 2 cases, and occlusion in 1 case. Unilateral involvement (12 cases) was more common, and the right pulmonary artery (10 cases) was more frequently affected. Independent risk factors for pulmonary artery involvement in childhood-onset TAK patients included superior mesenteric artery involvement (&lt;i&gt;OR&lt;/i&gt;=5.58, 95%&lt;i&gt;CI&lt;/i&gt; 1.41-22.10, &lt;i&gt;P=&lt;/i&gt;0.014) and elevated CRP levels (&lt;i&gt;OR&lt;/i&gt;=1.02, 95%&lt;i&gt;CI&lt;/i&gt; 1.00-1.03, &lt;i&gt;P=&lt;/i&gt;0.027). During a follow-up of 3.9 (1.4,8.1) years, 2 patients with pulmonary artery involvement (all with pulmonary hypertension), among the survivors in the pulmonary artery involvement group, 2 cases still exhibited persistent pulmonary artery dilation, and one case had pulmonary artery occlusion; and 6 patients (6.6%) without pulmonary artery involvement died. Patients with pulmonary artery involvement had significantly lower survival rates compared to those without involvement (&lt;i&gt;P&lt;/i&gt;=0.024). &lt;b&gt;Conclusions:&lt;/b&gt; Childhood-onset TAK with pulmonary artery involvement has an insidious clinical presentation, and can progress to pulmonary hypertension, pulmonary artery occlusion, and a significantly reduced survival rate. Patients with mesenteric artery involvement or elevated C","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 11","pages":"1218-1223"},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294477","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}