中华儿科杂志最新文献

{"title":"[Clinical features and molecular pathogenesis of neurodevelopmental disorder with impaired speech and hyperkinetic movements associated with ZNF142 gene variants].","authors":"Y Xu, X K Zhao, X Y Xuan","doi":"10.3760/cma.j.cn112140-20250519-00430","DOIUrl":"10.3760/cma.j.cn112140-20250519-00430","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical features and elucidate the molecular pathogenesis of neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) associated with zinc finger protein 142 (ZNF142) gene variants. <b>Methods:</b> A retrospective case series analysis was performed. The clinical data were collected on 2 children diagnosed with NEDISHM at Children's Hospital of Nanjing Medical University in February 2025. Whole-exome sequencing (WES) was conducted to identify pathogenic variants, subsequently validated by Sanger sequencing. Variant pathogenicity was assessed using computational predictors (SIFT, PolyPhen-2, MutationTaster) and structural modeling (PyMOL). Relative quantification of ZNF142 gene transcript levels was performed using real-time quantitative PCR, with expression values normalized against 2 rigorously age-and sex-matched healthy control subjects (normalized to 1.000). <b>Results:</b> Two monozygotic twin males aged 7 years and 3 months. Case 1 exhibited severe language impairment, moderate intellectual disability, attention deficits, hyperactivity, impulsivity, aggressive behavior, frontal bossing, and a flat nasal bridge. Case 2 presented with mild speech disorders, mild intellectual disability, while maintaining comparable craniofacial characteristics. WES revealed compound heterozygous ZNF142 gene variants in both affected individuals (NM_001105537.4): a paternally inherited nonsense variation (c.4030C>T, p.Arg1344Ter) and a <i>de novo</i> missense variation (c.1271C>T, p.Thr424Met). The latter, unreported previously, was predicted as pathogenic by in silico tools and structural analysis, demonstrating hydrogen bond disruption and altered thermodynamic stability. Quantitative PCR analysis showed relative expression level of ZNF142 gene mRNA in 2 cases were 0.230 and 0.173. <b>Conclusions:</b> Compound heterozygous variations of the ZNF142 gene can lead to the down-regulation of ZNF142 expression and thereby result in NEDISHM. Despite having exactly same genetic background, identical twin patients with NEDISHM still show significant clinical phenotypic heterogeneity.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"906-911"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683682","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":"[Emerging challenges of liver diseases among children].","authors":"J S Wang, T Liu","doi":"10.3760/cma.j.cn112140-20250607-00487","DOIUrl":"10.3760/cma.j.cn112140-20250607-00487","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"827-829"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683687","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 management and outcomes of respiratory distress syndrome in preterm infants <32 weeks' gestation from the Chinese Neonatal Network from 2019 to 2023].","authors":"Y He, X Chen, L J Zu, Z C Zhu, J R Shen, J Yang, S Y Jiang, J G Zhou, C Chen, L Yuan","doi":"10.3760/cma.j.cn112140-20250221-00138","DOIUrl":"10.3760/cma.j.cn112140-20250221-00138","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the current status and trends in the clinical management and outcomes of respiratory distress syndrome (RDS) in preterm infants <32 weeks' gestation admitted to the Chinese Neonatal Network (CHNN) from 2019 to 2023. <b>Methods:</b> A cross-sectional study was conducted from November 2024 to January 2025 using the CHNN cohort of very preterm and extremely preterm infants. A total of 30 869 RDS infants with gestational age <32 weeks were admitted within 1 day after birth to CHNN centers from 2019 to 2023. Data on demographics, perinatal management, early complications within 7 days of age, and in-hospital outcomes were collected. Yearly groups were defined by admission year. Trends by year were evaluated by Cochran-Armitage trend test, linear regression model and median regression model. <b>Results:</b> The gestational age at birth of 30 869 RDS infant was 28.9 (27.1, 30.7) weeks and the birth weight was 1 259 (932, 1 586) g. Males account for 56.5% (17 363/30 757). From 2019 to 2023, the prevalence of RDS was 73.8% (5 503/7 461), 74.5% (5 490/7 368), 79.8% (5 884/7 372), 81.6% (6 435/7 889), and 86.0% (7 557/8 789), respectively, showing an increasing trend year by year (<i>P</i><0.001). The overall rate of pulmonary surfactant administration was 72.4% (22 359/30 869), fluctuating between 71.2% (5 381/7 557) and 74.3% (4 089/5 503) over the 5-year period. Antenatal corticosteroids were administered to 82.3% (24 357/29 597) mothers of RDS infants and 23.6% (7 218/30 565) RDS infants received noninvasive positive end-expiratory pressure support in the delivery room, both showing a increasing trend over the 5 years (both <i>P</i><0.001). The incidence of pneumothorax and the use rate of inhaled nitric oxide within 7 days of age were 1.3% (393/30 846) and 1.4% (436/30 869), respectively, both showing increasing trends over the 5 years (both <i>P</i><0.001). The rate of complete course of antenatal corticosteroids administration was 64.6% (14 458/22 382), the rates of discharge against medical advice and mortality within 7 days of age were 5.3% (1 635/30 869) and 2.7% (724/26 803), respectively, all showing a decreasing trend over time (all <i>P</i><0.05). Regarding in-hospital outcomes, mortality rate of RDS infants was 4.6% (1 228/26 803), showing a downward trend year by year (<i>P</i>=0.005). The incidence of bronchopulmonary dysplasia (BPD) was 35.0% (9 417/26 919), and the combined incidence of death or BPD was 36.4% (9 763/26 803), both showing an increasing trend year by year (both <i>P</i><0.001). <b>Conclusions:</b> RDS prevalence increased annually in preterm infants <32 weeks' gestation from 2019 to 2023, with declining mortality but rising BPD rates. While antenatal steroid use and noninvasive positive end-expiratory pressure support application improved, full-course antenatal steroid compliance decreased. These findings highlight the need for standardized perinatal management protocols to improve the cli","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"870-878"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683683","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 8 cases of primary mediastinal large B-cell lymphoma].","authors":"L L Zhang, C J Zhou, N Li, S Huang, M Zhang, L Jin, J Yang, Y H Zhang, Y L Duan","doi":"10.3760/cma.j.cn112140-20241104-00788","DOIUrl":"10.3760/cma.j.cn112140-20241104-00788","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical features, pathologic characteristics, treatment and prognosis of primary mediastinal large B-cell lymphoma (PMBCL) in children. <b>Methods:</b> Clinical data including clinical manifestations, treatment, clinical efficacy of 8 cases of childhood PMBCL treated in Beijing Children's Hospital, Capital Medical University from March 2017 to February 2024 were collected retrospectively, the clinical characteristics and prognosis of them were summarized. <b>Results:</b> Among the 8 children, there were 5 males and 3 females. The age at the time of initial diagnosis was 11.0 (10.3, 13.5) years. The first clinical symptoms were cough (8 cases) and stridor (6 cases). The lesions most often involved the mediastinum (8 cases), lungs (5 cases, hilum more often), pericardium (5 cases), and pleura (4 cases). Extra thoracic invasion was present in 4 cases, 7 cases had huge tumor lesions and 7 cases were phase Ⅲ clinical stage. Except for 1 case who underwent surgical resection of the tumor, the remaining 7 cases were treated with DA-EPOCH+R (dose adjusted-etoposide+prednisone+vincristine+cyclo-phosphamide+doxorubicin+rituximab) chemotherapy. The follow-up time was 25.0 (10.5, 43.3) months, with 7 cases in complete and partial metabolism response, 1 case had disease progression. All 8 cases survived. <b>Conclusions:</b> PMBCL is most common in school-age boys and most of them present with huge mediastinal tumor focus. PMBCL expresses B-cell spectrum antigens and weakly expresses CD30.The application of DA-EPOCH+R is effective in the treatment of PMBCL in children.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"901-905"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683668","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":"[Management and prognosis of pediatric acute liver failure in pediatric intensive care unit].","authors":"B L Fang, G Liu, Q Wang, Z Li, X L Jia, J S Zeng, R B Li, S Y Qian","doi":"10.3760/cma.j.cn112140-20250305-00177","DOIUrl":"10.3760/cma.j.cn112140-20250305-00177","url":null,"abstract":"<p><p><b>Objective:</b> To understand the management of children with pediatric acute liver failure (PALF) in pediatric intensive care unit (PICU). <b>Methods:</b> A retrospective case-control study was conducted. A total of 101 children with PALF hospitalized in PICU of Beijing Children's Hospital from July 2017 to October 2022 were included. Demographic, clinical management and prognosis data were collected. According to whether PALF was the main diagnosis, the patients were divided into primary diagnosis group and complication group. The primary diagnosis group was subdivided into effective group and ineffective group with routine treatment (except liver transplantation). The intergroup comparisons were performed using independent samples <i>t</i>-test, Mann-Whitney <i>U</i> test, <i>χ²</i> test or Fisher exact test. Multivariate Logistic regression analysis was employed to identify risk factors associated with prognosis. <b>Results:</b> Among the 101 children with PALF, 58 were male and 43 were female, with an age of 30 (10, 103) months, 60 cases in primary diagnosis group and 41 cases in complication group. There were no significant differences in prothrombin time (PT) and international normalized ratio (INR) between the two groups (both <i>P</i>>0.05), while the total bilirubin, direct bilirubin and blood ammonia were all significantly higher in the primary diagnosis group (all <i>P</i><0.05). Unoriginal liver failure (25 cases (42%)) and poisoning (13 cases (22%)) were the most common causes of PALF in the primary diagnosis group, while shock (17 cases, 43%) and hemophagocytic syndrome (14 cases (34%)) in the complication group. The mortality rate of the main diagnosis group was significantly lower than that of the complication group (25% (15/60) <i>vs.</i> 61% (25/41), <i>χ</i>²=13.18, <i>P</i><0.001), as well as the incidence of combined organ function injury, while the amount of plasma used and the ratio of plasma exchange times to PICU hospitalization days were significantly higher (all <i>P</i><0.05). In the primary diagnosis group, there were 32 cases (53%) in the effective group and 28 cases (47%) in the ineffective group. In the ineffective group, 15 cases (54%) died and 13 cases (46%) were transferred to another site for liver transplantation assessment. The hospitalization time of PICU in the effective group was significantly longer than that in the ineffective group, while the ratio of plasma exchange times to PICU hospitalization days, the average daily hours of continuous renal replacement therapy (CRRT), the rate of CRRT and the average daily plasma dosage in the effective group were all significantly lower than those in the ineffective group (all <i>P</i><0.05). The worst PT, INR and blood ammonia, and the stage 4 hepatic encephalopathy morbidity and significant bleeding rate in the effective group were all significantly lower than those in the ineffective group (all <i>P</i><0.05). Multivariate Logistic regressio","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"879-884"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683693","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":"[Interpretation of the expert consensus on the diagnosis of invasive group A <i>Streptococcal</i> disease in children (2025)].","authors":"S Y Chen, M Y Guo, W Gao, L M Dong, K H Yao","doi":"10.3760/cma.j.cn112140-20250120-00060","DOIUrl":"10.3760/cma.j.cn112140-20250120-00060","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"847-851"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683692","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 human bocavirus infection in children].","authors":"K X Zhang, R De, L Q Zhao","doi":"10.3760/cma.j.cn112140-20250529-00455","DOIUrl":"10.3760/cma.j.cn112140-20250529-00455","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"919-922"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683696","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":"[Minutes of the 19^th Academy of Neonatology].","authors":"J Wang, J H Fu, Y J Zhang, W H Zhou","doi":"10.3760/cma.j.cn112140-20250611-00499","DOIUrl":"10.3760/cma.j.cn112140-20250611-00499","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 8","pages":"933-934"},"PeriodicalIF":0.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683694","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 practice guidelines for the management of therapeutic drug monitoring in pediatric inflammatory bowel disease (2025)].","authors":"","doi":"10.3760/cma.j.cn112140-20250326-00250","DOIUrl":"10.3760/cma.j.cn112140-20250326-00250","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 7","pages":"705-713"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303722","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 analysis of 4 cases of juvenile dermatomyositis complicated with massive hemorrhage of digestive tract].","authors":"X N Wang, X L Wang, J R Zhang, X Yao, Y Liu, J G Li","doi":"10.3760/cma.j.cn112140-20250312-00201","DOIUrl":"10.3760/cma.j.cn112140-20250312-00201","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical characteristics, treatment and prognosis of juvenile dermatomyositis (JDM) complicated by sever gastrointestinal hemorrhage in children. <b>Methods:</b> A retrospective analysis was conducted on 4 JDM patients with sever gastrointestinal hemorrhage admitted to our hospital, from January 2017 to January 2025. Data including demographics, clinical manifestations, laboratory and imaging findings, treatment courses, and outcomes were reviewed. <b>Results:</b> The cohort comprised 4 patients (2 males, 2 females), with onset ages of 6.1, 6.2, 10.0 and 8.0 years. All presented with rash and fatigue and were diagnosed with severe refractory JDM (strongly positive anti-NXP2 antibodies). Sever gastrointestinal hemorrhage occurred 18, 12, 51, and 2 months after JDM diagnosis. Two cases had confirmed gastrointestinal infections due to contaminated food. Abdominal pain was the initial gastrointestinal symptom and black stool was observed in all cases, hemoglobin levels dropped below 60 g/L (case 1-4 decreased to 38, 59, 60 and 43 g/L respectively). All patients exhibited intestinal wall thickening. Active bleeding sites included the duodenum (3 cases: 2 cases near the duodenal papilla, 1 cases with diffuse duodenal oozing). Emergency endoscopic hemostasis was performed in 3 cases. One patient with diffuse duodenal bleeding required additional glucocortieoid pulse therapy after failed interventional embolization. Three patients stabilized following aggressive treatment of JDM, while 1 case died due to duodenal perforation. <b>Conclusions:</b> Anti-NXP2 antibody-positive JDM patients are prone to gastrointestinal involvement, particularly in chronic cases. Duodenal bleeding is common, with vascular erosion and deep mucosal ulcers posing life-threatening risks. For children with positive anti-NXP2 antibodies who present with abdominal pain and thickened intestinal walls, early endoscopic examination should be conducted as soon as possible to detect digestive tract lesions and provide timely treatment. Patients with severe digestive tract bleeding usually require active treatment for the underlying disease combined with endoscopic hemostasis therapy. Under timely treatment, the prognosis is relatively favorable.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 7","pages":"789-793"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303672","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}