中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2409011
Wei DU, Xu-Xiang Yang, Ru-Shuang Zeng, Chun-Yao Zhao, Zhi-Peng Xiang, Yuan-Chun Li, Jie-Song Wang, Xiao-Hong Su, Xiao Lu, Yu Li, Jing Wen, Dang Han, Qun DU, Jia He
{"title":"[Mediating effect of sleep duration between depression symptoms and myopia in middle school students].","authors":"Wei DU, Xu-Xiang Yang, Ru-Shuang Zeng, Chun-Yao Zhao, Zhi-Peng Xiang, Yuan-Chun Li, Jie-Song Wang, Xiao-Hong Su, Xiao Lu, Yu Li, Jing Wen, Dang Han, Qun DU, Jia He","doi":"10.7499/j.issn.1008-8830.2409011","DOIUrl":"10.7499/j.issn.1008-8830.2409011","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the mediating role of sleep duration in the relationship between depression symptoms and myopia among middle school students.</p><p><strong>Methods: </strong>This study was a cross-sectional research conducted using a stratified cluster random sampling method. A total of 1 728 middle school students were selected from two junior high schools and two senior high schools in certain urban areas and farms of the Xinjiang Production and Construction Corps. Questionnaire surveys and vision tests were conducted among the students. Spearman analysis was used to analyze the correlation between depression symptoms, sleep duration, and myopia. The Bootstrap method was employed to investigate the mediating effect of sleep duration between depression symptoms and myopia.</p><p><strong>Results: </strong>The prevalence of myopia in the overall population was 74.02% (1 279/1 728), with an average sleep duration of (7.6±1.0) hours. The rate of insufficient sleep was 83.62% (1 445/1 728), and the proportion of students exhibiting depression symptoms was 25.29% (437/1 728). Correlation analysis showed significant negative correlations between visual acuity in both eyes and sleep duration with depressive emotions as measured by the Center for Epidemiologic Studies Depression Scale (with correlation coefficients of -0.064, -0.084, and -0.199 respectively; <i>P</i><0.01), as well as with somatic symptoms and activities (with correlation coefficients of -0.104, -0.124, and -0.233 respectively; <i>P</i><0.01) and interpersonal relationships (with correlation coefficients of -0.052, -0.059, and -0.071 respectively; <i>P</i><0.05). The correlation coefficients for left and right eye visual acuity and sleep duration were 0.206 and 0.211 respectively (<i>P</i><0.001). Sleep duration exhibited a mediating effect between depression symptoms and myopia (indirect effect=0.056, 95%<i>CI</i>: 0.029-0.088), with the mediating effect value for females (indirect effect=0.066, 95%<i>CI</i>: 0.024-0.119) being higher than that for males (indirect effect=0.042, 95%<i>CI</i>: 0.011-0.081).</p><p><strong>Conclusions: </strong>Sleep duration serves as a partial mediator between depression symptoms and myopia in middle school students.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"359-365"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658939","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2410006
Meng-Meng Li, Shu-Shu Li, Miao Qian, Min Zhang, Shu-Ping Han
{"title":"[Impact of different treatment attitudes on survival and risk factors for poor clinical outcomes in extremely preterm infants: a retrospective real-world study].","authors":"Meng-Meng Li, Shu-Shu Li, Miao Qian, Min Zhang, Shu-Ping Han","doi":"10.7499/j.issn.1008-8830.2410006","DOIUrl":"10.7499/j.issn.1008-8830.2410006","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the impact of different treatment attitudes on the survival status of extremely preterm infants (EPIs) and evaluate the mortality and occurrence of severe complications in actively treated infants, as well as their risk factors.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on perinatal data of EPIs born between January 1, 2016, and December 31, 2023, who were admitted to the neonatal intensive care unit of Nanjing Women and Children's Healthcare Hospital within 24 hours after birth. The analysis focused on the attributable risk of mortality associated with different treatment attitudes in EPIs of varying gestational ages and birth weights. A multivariate logistic regression model was used to analyze the risk factors for mortality and severe complications in the actively treated group.</p><p><strong>Results: </strong>A total of 485 EPIs were included. As gestational age or birth weight increased, the attributable risk of mortality with care withdrawal increased. Active treatment significantly improved the survival status of EPIs born at a gestational age of ≥24 weeks. Multivariate logistic regression analysis indicated that lower gestational age and the need for mechanical ventilation within 72 hours after birth were independent risk factors for mortality or severe complications in EPIs (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>Active treatment can significantly extend the survival time of EPIs born at a gestational age of ≥24 weeks. Lower gestational age and the need for mechanical ventilation within 72 hours after birth are closely associated with poor survival outcomes in EPIs.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"269-278"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659025","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}
{"title":"[Efficacy of volume-guaranteed high-frequency oscillatory ventilation in preterm infants with respiratory distress syndrome and its impact on cerebral blood flow in the middle cerebral artery].","authors":"Yue-Yi Wang, Xue-Xu Wei, Hai-Wei Yin, Hong-Bin Zhu","doi":"10.7499/j.issn.1008-8830.2409030","DOIUrl":"10.7499/j.issn.1008-8830.2409030","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the efficacy of volume-guaranteed high-frequency oscillatory ventilation (HFOV-VG) in preterm infants with respiratory distress syndrome (RDS) and its impact on blood flow in the middle cerebral artery (MCA).</p><p><strong>Methods: </strong>A prospective study was conducted on 120 preterm infants with RDS who were admitted to the Department of Neonatology at Qinhuangdao Maternal and Child Health Hospital from March 2020 to December 2023. According to the mode of ventilation, the infants were divided into two groups: a conventional mechanical ventilation (CMV) group (60 infants) and an HFOV-VG group (60 infants). The two groups were compared in terms of baseline data, MCA hemodynamic parameters, complications, and outcomes.</p><p><strong>Results: </strong>Compared with the CMV group, the HFOV-VG group had significantly shorter durations of mechanical ventilation and hospital stay and a significantly higher overall response rate (<i>P</i><0.05). The HFOV-VG group demonstrated significantly better peak systolic velocity, end-diastolic velocity, and mean flow velocity (<i>P</i><0.05). The HFOV-VG group also exhibited significantly lower 28-day mortality rates and lower incidence rates of bronchopulmonary dysplasia and intraventricular hemorrhage than the CMV group (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>HFOV-VG can effectively improve cerebral blood perfusion, reduce cerebrovascular resistance, shorten the durations of mechanical ventilation and hospital stay, and enhance overall treatment efficacy. It has significant advantages in reducing the risk of 28-day mortality, bronchopulmonary dysplasia, and intraventricular hemorrhage in preterm infants with RDS.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"286-292"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659010","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2411071
Xiao-Tian Gao, Hai-Mo Zhang, Xiao-Zu Zhang, Yi-Jing Wang, Hui-Ning Bi, Miao Yu, Yan Li, Xiao-Li Wang
{"title":"[Multi-modal magnetic resonance imaging assessment and mechanism exploration of preterm white matter injury in neonatal rats].","authors":"Xiao-Tian Gao, Hai-Mo Zhang, Xiao-Zu Zhang, Yi-Jing Wang, Hui-Ning Bi, Miao Yu, Yan Li, Xiao-Li Wang","doi":"10.7499/j.issn.1008-8830.2411071","DOIUrl":"10.7499/j.issn.1008-8830.2411071","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate preterm white matter injury (PWMI) in neonatal rats using multimodal magnetic resonance imaging (MRI) combined with histological assessments and to explore its underlying mechanisms.</p><p><strong>Methods: </strong>Healthy 3-day-old Sprague-Dawley neonatal rats were randomly divided into a sham operation group and a PWMI group (<i>n</i>=12 in each group). A PWMI model was established in neonatal rats through hypoxia-ischemia. Laser speckle imaging was used to observe changes in cerebral oxygen saturation and blood flow at different time points post-modeling. Multimodal MRI was employed to assess the condition of white matter injury, while hematoxylin-eosin staining was utilized to observe morphological changes in the striatal area on the injured side. Immunofluorescence staining was performed to detect the proliferation and differentiation of oligodendrocyte precursor cells.</p><p><strong>Results: </strong>At 0, 6, 12, 24, and 72 hours post-modeling, the relative blood flow and relative oxygen saturation on the injured side in the PWMI group were significantly lower than those in the sham operation group (<i>P</i><0.05). At 24 hours post-modeling, T2-weighted imaging showed high signals in the white matter of the injured side in the PWMI group, with relative apparent diffusion coefficient values and Lorenz differential values being lower than those in the sham operation group (<i>P</i><0.001); additionally, the arrangement of nerve cells in the PWMI group was disordered, and the number of EdU<sup>+</sup>PDGFR-α<sup>+</sup> cells was higher than that in the sham operation group (<i>P</i><0.001). At 28 days post-modeling, the relative fractional anisotropy values, the number of EdU<sup>+</sup>Olig2<sup>+</sup> cells, and the fluorescence intensity of myelin basic protein and neurofilament protein 200 in the white matter region of the PWMI group were all lower than those in the sham operation group (<i>P</i><0.001).</p><p><strong>Conclusions: </strong>Multimodal MRI can evaluate early and long-term changes in PWMI in neonatal rat models <i>in vivo</i>, providing both imaging and pathological evidence for the diagnosis and treatment of PWMI in neonates. Hypoxia-ischemia inhibits the proliferation and differentiation of oligodendrocyte precursor cells in neonatal rats, leading to PWMI.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"366-372"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659059","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2407143
Jun Mu, Shu-Shu Li, Ai-Ling Su, Shu-Ping Han, Jin-Gai Zhu
{"title":"[Predictive factors for hemodynamically significant patent ductus arteriosus in preterm infants and the construction of a nomogram prediction model].","authors":"Jun Mu, Shu-Shu Li, Ai-Ling Su, Shu-Ping Han, Jin-Gai Zhu","doi":"10.7499/j.issn.1008-8830.2407143","DOIUrl":"10.7499/j.issn.1008-8830.2407143","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the predictive factors for hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants and to construct a nomogram prediction model for hsPDA occurrence in this population.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of preterm infants with gestational age <32 weeks diagnosed with patent ductus arteriosus (PDA) who were delivered at Nanjing Women and Children's Healthcare Hospital from January 2020 to December 2022. The subjects were divided into an hsPDA group (52 cases) and a non-hsPDA group (176 cases) based on the presence of hsPDA. Univariate analysis and multivariate logistic regression analysis were performed to screen predictive variables regarding the general information of the infants at birth, maternal pregnancy and delivery conditions, and relevant indicators during hospitalization. A nomogram prediction model for hsPDA occurrence was constructed using R software in preterm infants. Internal validation was performed using the Bootstrap method. Finally, the predictive model was evaluated for calibration, discrimination ability, and clinical utility.</p><p><strong>Results: </strong>Multivariate regression analysis showed that the ratio of the left atrium to aorta diameter (LA/AO), mode of delivery (vaginal), and duration of mechanical ventilation were independent predictive factors for hsPDA in preterm infants (<i>P</i><0.05). Based on the results of univariate analysis and multivariate logistic regression analysis, variables used to construct the nomogram prediction model for hsPDA risk included: LA/AO ratio, mode of delivery (vaginal), duration of mechanical ventilation, 5-minute Apgar score, and the presence of neonatal respiratory distress syndrome requiring surfactant therapy. The area under the receiver operating characteristic curve for this model was 0.876 (95%<i>CI</i>: 0.824-0.927), and the calibrated curve was close to the ideal reference line, indicating good calibration. The Hosmer-Lemeshow test demonstrated that the model fit well, and the clinical decision curve was above the extreme curves.</p><p><strong>Conclusions: </strong>The nomogram prediction model, constructed using five variables (LA/AO ratio, vaginal delivery, duration of mechanical ventilation, 5-minute Apgar score, and the presence of neonatal respiratory distress syndrome requiring surfactant therapy), has reference significance for predicting the occurrence of hsPDA in preterm infants and provides valuable guidance for the early clinical identification of hsPDA.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"279-285"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659060","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2410107
Li Li, Feng Xiong
{"title":"[Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia].","authors":"Li Li, Feng Xiong","doi":"10.7499/j.issn.1008-8830.2410107","DOIUrl":"10.7499/j.issn.1008-8830.2410107","url":null,"abstract":"<p><p>Achondroplasia (ACH) is a common skeletal dysplasia in children, primarily caused by mutations in the fibroblast growth factor receptor 3 (<i>FGFR3</i>) gene. These mutations disrupt the process of endochondral ossification in different types of bones, including long bones of the limbs and vertebrae. Children with ACH typically present with short stature and may experience severe multi-system complications. The diagnosis of ACH is based on typical clinical manifestations, imaging features, and genetic testing results. Treatment options mainly include pharmacological interventions and surgical procedures aimed at improving height, as well as symptomatic management for associated complications. This article discusses both prenatal and clinical diagnostic approaches for ACH, as well as treatment strategies focused on enhancing height, aiming to deepen the understanding of this condition.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"262-268"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659064","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}
{"title":"[Two cases of creatine deficiency syndrome caused by <i>GAMT</i> gene mutations and literature review].","authors":"Ting-Ting Zhao, Zou Pan, Jian-Min Zhong, Hai-Yun Tang, Fei Yin, Jing Peng, Chen Chen","doi":"10.7499/j.issn.1008-8830.2411062","DOIUrl":"10.7499/j.issn.1008-8830.2411062","url":null,"abstract":"<p><strong>Objectives: </strong>To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by <i>GAMT</i> gene mutations.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024.</p><p><strong>Results: </strong>The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the <i>GAMT</i> gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial.</p><p><strong>Conclusions: </strong>GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"340-346"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659066","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2409008
Meng-Meng Yin, Qun Hu, Ai-Guo Liu, Ya-Qin Wang, Ai Zhang
{"title":"[Factors associated with prognosis and treatment failure in children with acute lymphoblastic leukemia].","authors":"Meng-Meng Yin, Qun Hu, Ai-Guo Liu, Ya-Qin Wang, Ai Zhang","doi":"10.7499/j.issn.1008-8830.2409008","DOIUrl":"10.7499/j.issn.1008-8830.2409008","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the factors related to prognosis and treatment failure in children with acute lymphoblastic leukemia (ALL).</p><p><strong>Methods: </strong>A retrospective study was conducted to collect and analyze clinical data of ALL children admitted to the Department of Pediatric Hematology at Tongji Hospital, Huazhong University of Science and Technology, from January 2012 to December 2019, with follow-up until June 2024.</p><p><strong>Results: </strong>A total of 341 children with ALL were included. Among the 69 children with treatment failure, 55 (80%) experienced relapse, while 14 (20%) had non-relapse-related deaths, and no secondary tumors were observed. Initial WBC count ≥50×10<sup>9</sup>/L, positive minimal residual disease, and severe adverse events were identified as independent risk factors for treatment failure (<i>P</i><0.05). Among the 55 relapsed patients, early relapses were predominant (36%), and the primary site of relapse was the bone marrow (56%). Immunophenotyping (<i>P</i>=0.009), initial WBC count (<i>P</i>=0.011), and fusion genes (<i>P</i>=0.040) were associated with the timing of relapse. High-risk status, T-cell ALL, relapse, and severe adverse events were independent risk factors affecting long-term survival (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>The prognosis of children with ALL is related to risk stratification, immunophenotyping, relapse status, and occurrence of severe adverse events. Among these factors, relapse is the primary cause of treatment failure. Actively preventing relapse may reduce the treatment failure rate and improve long-term survival.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"308-314"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659018","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}
中国当代儿科杂志Pub Date : 2025-03-15DOI: 10.7499/j.issn.1008-8830.2409076
Wei-Na Liu, Ya-Lei Pi, Xing-Yu Bai, Hui-Fen Chen
{"title":"[Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].","authors":"Wei-Na Liu, Ya-Lei Pi, Xing-Yu Bai, Hui-Fen Chen","doi":"10.7499/j.issn.1008-8830.2409076","DOIUrl":"10.7499/j.issn.1008-8830.2409076","url":null,"abstract":"<p><p>The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the <i>SON</i> gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a <i>de novo</i> mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a \"pathogenic variant\" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"373-376"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659069","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}
{"title":"[Application value of thromboelastography in assessing coagulation function in children with severe hemophilia A after emicizumab therapy: a single-center study].","authors":"Dong Peng, Ying Wang, Gui-Chi Zhou, Qian Li, Mei-Zhu Luo, Li-Ping Luo, Ya-Xian Kuang, Xiao-Ying Fu","doi":"10.7499/j.issn.1008-8830.2409099","DOIUrl":"10.7499/j.issn.1008-8830.2409099","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the application value of thromboelastography (TEG) in assessing coagulation function in children with severe hemophilia A (HA) after emicizumab (EMI) therapy.</p><p><strong>Methods: </strong>A retrospective analysis was performed on the activated partial thromboplastin time (APTT) and TEG testing results of 17 children with severe HA before and after EMI treatment at Shenzhen Children's Hospital from January 2023 to July 2024. Correlation analysis was conducted between coagulation factor VIII (FVIII) equivalent activity and reaction time (R value) measured by TEG.</p><p><strong>Results: </strong>After EMI treatment, the mean bleeding rate for children with severe HA was 1.6 events per year, with 15 children (88%) without spontaneous bleeding or joint bleeding. The children with severe HA showed a significant reduction in APTT after EMI treatment (<i>P</i><0.05), with a significantly shorter APTT than the normal control group (<i>P</i><0.05). There was no correlation between APTT and FVIII equivalent activity after treatment (<i>P</i>>0.05). After EMI treatment, TEG parameters, including R value, kinetic time, alpha angle (α), maximum amplitude, clot strength, and coagulation index, shifted from a hypocoagulable state before treatment to a nearly normal state after treatment (<i>P</i><0.05). The R value demonstrated a strong negative correlation with FVIII equivalent activity (<i>r</i>=-0.758, <i>P</i><0.05).</p><p><strong>Conclusions: </strong>The bleeding condition of children with severe HA can be effectively controlled after EMI treatment. Routine APTT testing cannot reflect true coagulation function, whereas TEG testing is clinically valuable in assessing the coagulation function of children with severe HA undergoing EMI treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 3","pages":"293-299"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658974","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}