中国当代儿科杂志最新文献

{"title":"[Efficacy and safety of perampanel add-on therapy in children with epilepsy of genetic etiology].","authors":"Jia-Qin Yi, Dan Sun","doi":"10.7499/j.issn.1008-8830.2409069","DOIUrl":"10.7499/j.issn.1008-8830.2409069","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the efficacy and safety of perampanel (PER) add-on therapy in children with epilepsy of genetic etiology.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of 53 children who attended the Department of Neurology, Wuhan Children's Hospital, from November 2020 to April 2023. All children received PER add-on therapy and were diagnosed with epilepsy of genetic etiology based on whole-exome sequencing. The primary outcome measure was the proportion of children with a reduction in seizure frequency of ≥50% at month 12 of PER treatment (i.e., response rate), and the secondary outcome measures were response rates at months 3 and 6 of treatment. The influencing factors for the efficacy of PER add-on therapy in the treatment of epilepsy of genetic etiology were analyzed, and adverse events were recorded.</p><p><strong>Results: </strong>The median follow-up duration was 13.10 months. After 12 months of follow-up, 42 children were included in the analysis, comprising 25 boys (60%) and 17 girls (40%). The median initial dose of PER was 1.5 (1.0, 2.0) mg/d, and the median maintenance dose was 4.0 (3.0, 8.0) mg/d. The response rates to PER at months 3, 6, and 12 of treatment were 61% (30/49), 54% (25/46), and 48% (20/42), respectively. No significant difference in the efficacy of PER was observed between children with mutations in genes encoding different protein functions (<i>P</i>>0.05). The most common adverse event reported was fatigue, observed in 3 children (6%).</p><p><strong>Conclusions: </strong>PER add-on therapy demonstrates good efficacy and safety in children with epilepsy of genetic etiology. No influencing factors for the efficacy of PER have been identified to date.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"171-175"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442176","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 and considerations of recombinant human growth hormone in treating growth disorders in children with chronic kidney disease].","authors":"Jian-Hua Zhou","doi":"10.7499/j.issn.1008-8830.2410023","DOIUrl":"10.7499/j.issn.1008-8830.2410023","url":null,"abstract":"<p><p>Growth disorders are one of the common complications of chronic kidney disease (CKD) in children, adversely affecting both the quality of life and survival time of CKD patients. Recombinant human growth hormone (rhGH) is an effective treatment for growth disorders in children with CKD. This article reviews the mechanisms underlying growth disorders in children with CKD, the therapeutic effects, safety, and precautions of rhGH, and long-term management of diagnosis and treatment of this disorder.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"133-138"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441963","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":"[Diagnosis of mucormycosis in three children following hematopoietic stem cell transplantation using metagenomic next-generation sequencing].","authors":"Yue Li, Xiao-Hui Zhou, Xiao-Dong Wang, Chun-Jing Wang, Ke Cao, Si-Xi Liu","doi":"10.7499/j.issn.1008-8830.2408034","DOIUrl":"10.7499/j.issn.1008-8830.2408034","url":null,"abstract":"<p><p>This article reports the clinical characteristics and treatment processes of three cases of mucormycosis occurring after hematopoietic stem cell transplantation in children, along with a review of relevant literature. All three patients presented with chest pain as the initial symptom, and metagenomic next-generation sequencing (mNGS) confirmed the mucycete infection early in all cases. Two patients recovered after treatment, while one succumbed to disseminated infection. mNGS has facilitated early diagnosis and treatment, reducing mortality rates. Additionally, surgical intervention is an important strategy for improving the prognosis of this condition.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"219-224"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442221","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":"[Value of different calculation methods for weight growth velocity in predicting long-term neurological and physical development outcomes in preterm infants].","authors":"Pei-Hong Ji, Xuan Sun, Jin-Zhi Gao, Ling Chen","doi":"10.7499/j.issn.1008-8830.2409129","DOIUrl":"10.7499/j.issn.1008-8830.2409129","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the value of weight growth velocity, calculated using the Patel exponential model and the Z-score change method, in predicting the neurological and physical development outcomes of preterm infants with a gestational age of <30 weeks in the long term.</p><p><strong>Methods: </strong>A retrospective study was conducted involving preterm infants with a gestational age of <30 weeks who were hospitalized and treated in the Department of Neonatology at Tongji Hospital, Huazhong University of Science and Technology, from January 2017 to June 2022, and were followed up at the outpatient service more than 18 months of age. The preterm infants were divided into high and low rate groups based on the two calculation methods, and the two methods were compared regarding their predictive value for neurological and physical development outcomes in the long term.</p><p><strong>Results: </strong>The average age of the last follow-up was (23.0±3.6) months. For neurological development, according to the Patel exponential model, the low rate group exhibited a significantly higher abnormal rate in the fine motor domain compared to the high rate group (<i>P</i><0.05). Using the Z-score change method, the low rate group had significantly higher abnormal rates in both gross motor and fine motor domains, and significantly lower developmental quotients for gross motor, fine motor, and adaptive behavior domains compared to the high rate group (<i>P</i><0.05). For physical development, there were no significant differences in body length, body weight, head circumference, or the incidence rate of growth restriction between the low rate and high rate groups identified by either method (<i>P</i>>0.05).</p><p><strong>Conclusions: </strong>Weight growth velocity calculated using the Z-score change method is more effective in predicting long-term neurological outcomes in preterm infants, while weight growth velocity derived from both methods shows no significant association with long-term physical development outcomes.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"165-170"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442311","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":"[Clinical characteristics and prognosis of acute erythroleukemia in children].","authors":"Ping Zhu, Wen-Jing Qi, Ye-Qing Tao, Ding-Ding Cui, Guang-Yao Sheng, Chun-Mei Wang","doi":"10.7499/j.issn.1008-8830.2405138","DOIUrl":"10.7499/j.issn.1008-8830.2405138","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL) in children.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data, treatment, and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.</p><p><strong>Results: </strong>Among the 7 patients with complete bone marrow morphological analysis, 4 exhibited trilineage dysplasia, with a 100% incidence of erythroid dysplasia (7/7), a 71% incidence of myeloid dysplasia (5/7), and a 57% incidence of megakaryocytic dysplasia (4/7). Immunophenotyping revealed that myeloid antigens were primarily expressed as CD13, CD33, CD117, CD38, and CD123, with 4 cases expressing erythroid antigens CD71 and 2 cases expressing CD235a. Chromosomal analysis indicated that 2 cases presented with abnormal karyotypes, including +8 in one case and +4 accompanied by +6 in another; no complex karyotypes were observed. Genetic abnormalities were detected in 4 cases, with fusion genes including one case each of <i>dup MLL</i> positive and <i>EVI1</i> positive, as well as mutations involving <i>KRAS</i>, <i>NRAS</i>, <i>WT1</i>, and <i>UBTF</i>. Seven patients received chemotherapy, with 6 achieving remission after one course of treatment; 2 underwent hematopoietic stem cell transplantation, and all had disease-free survival. Follow-up (median follow-up time of 6 months) showed that only 3 patients survived (2 cases after hematopoietic stem cell transplantation and 1 case during treatment).</p><p><strong>Conclusions: </strong>Children with AEL have unique clinical and biological characteristics, exhibit poor treatment response, and have a poor prognosis; however, hematopoietic stem cell transplantation may improve overall survival rates.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"88-93"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013149","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":"[Research progress on the diagnosis of pediatric heart failure].","authors":"Shi-Yi Lei, Chen-Yang Li, Ling-Juan Liu, Yu-Xing Yuan, Jie Tian","doi":"10.7499/j.issn.1008-8830.2410105","DOIUrl":"10.7499/j.issn.1008-8830.2410105","url":null,"abstract":"<p><p>Heart failure is a complex clinical syndrome and pediatric heart failure (PHF) has a high mortality rate. Early diagnosis is crucial for treatment and management of PHF. In clinical practice, various tests and examinations play a key role in the diagnosis of PHF, including continuously updated biomarkers, echocardiography, and cardiac magnetic resonance imaging. This article focuses on summarizing relevant research on biomarkers, examinations, combined testing, clinical models, and the grading and staging of PHF diagnosis, aiming to provide insights and directions for the diagnosis of PHF.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"127-132"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013535","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":"[Clinicopathological significance and prognostic value of serum 25-hydroxyvitamin D₃ level in children with IgA vasculitis nephritis].","authors":"Pao Yu, Pei Zhang, Chun-Lin Gao, Zi Wang, Yin Zhang, Zheng Ge, Bi Zhou","doi":"10.7499/j.issn.1008-8830.2408058","DOIUrl":"10.7499/j.issn.1008-8830.2408058","url":null,"abstract":"<p><strong>Objectives: </strong>To study the significance of serum 25-hydroxyvitamin D₃ [25-(OH)D₃] level in the clinicopathological characteristics and prognosis of children with immunoglobulin A vasculitis nephritis (IgAVN).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of children with IgAVN who underwent renal biopsy at Suzhou Hospital Affiliated to Anhui Medical University and Jinling Hospital of the Medical School of Nanjing University from June 2015 to June 2020. Based on serum 25-(OH)D₃ level, the patients were divided into a normal group and a lower group. The clinicopathological characteristics and follow-up data of the two groups were collected and compared.</p><p><strong>Results: </strong>A total of 359 children with IgAVN were included. Compared to the normal group (62 cases), the lower group (297 cases) exhibited higher incidences of hematochezia and gross hematuria, higher levels of serum creatinine, blood urea nitrogen, urinary retinol protein, urinary N-acetyl-β-D-glucosaminidase, and quantitative urinary protein, and a longer duration from renal biopsy to urinary protein becoming negative, as well as lower estimated glomerular filtration rate and albumin level (<i>P</i><0.05). Renal pathology in the lower group showed a higher occurrence of tubular interstitial injury, crescent formation, segmental sclerosis in glomeruli, and inflammatory cell infiltration in the renal interstitium compared to the normal group (<i>P</i><0.05). Survival analysis indicated that the cumulative renal survival rate was lower in the lower group (<i>P</i><0.05). Multivariate Cox regression analysis revealed that low serum 25-(OH)D₃ level is an independent risk factor for poor prognosis in children with IgAVN.</p><p><strong>Conclusions: </strong>Children with IgAVN and low serum 25-(OH)D₃ level have relatively severe clinicopathological manifestations. Low serum 25-(OH)D₃ level is an independent risk factor for poor prognosis in children with IgAVN.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"55-61"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013443","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":"[Expression of soluble factor-related apoptosis ligand in peripheral blood and microRNA-147b in monocytes in children with sepsis and their association with prognosis].","authors":"Jun Zhang, Xiao-Fei Lin, Yun-Duo Wu, Hong-Li Zhu, Juan Liu","doi":"10.7499/j.issn.1008-8830.2408152","DOIUrl":"10.7499/j.issn.1008-8830.2408152","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the expression of soluble factor-related apoptosis ligand (sFasL) in peripheral blood and microRNA-147b (miR-147b) in monocytes in children with sepsis and their value in assessing prognosis.</p><p><strong>Methods: </strong>A prospective study was conducted on 124 children with sepsis (sepsis group), 60 children with common infections (infection group), and 60 healthy children undergoing physical examinations (healthy control group). The independent risk factors for poor prognosis in children with sepsis were analyzed, and the value of serum sFasL and monocyte miR-147b in predicting poor prognosis in children with sepsis was assessed.</p><p><strong>Results: </strong>The serum level of sFasL and the relative expression of miR-147b in monocytes were highest in the sepsis group, followed by the infection group and the healthy control group (<i>P</i><0.05). The multivariate logistic regression analysis showed that the serum level of sFasL and the relative expression of miR-147b in monocytes were closely associated with the poor prognosis of children with sepsis (<i>P</i><0.05). The receiver operating characteristic curve analysis showed that the combination of serum sFasL level and relative expression of miR-147b in monocytes had a larger area under the curve compared to each indicator alone in predicting the prognosis of children with sepsis (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>There are significant increases in the level of sFasL in peripheral blood and the relative expression of miR-147b in monocytes in children with sepsis. The combined use of these two indicators has relatively high clinical value in assessing the prognosis of children with sepsis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"82-87"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013518","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":"[Research advances in reward positivity and internalizing and externalizing problems in children and adolescents].","authors":"Ke-Ke Yao, Huan Wang, Zhen-Zhen Yang","doi":"10.7499/j.issn.1008-8830.2408086","DOIUrl":"10.7499/j.issn.1008-8830.2408086","url":null,"abstract":"<p><p>Adolescence is a critical period for the development of the reward circuit, and reward positivity (RewP) is one of the electrophysiological indicators reflecting reward processing. Many studies have shown that abnormalities in RewP is closely associated with internalizing and externalizing problems in children and adolescents. In addition, factors such as stressful life events and sleep disorders can affect reward-related brain activity and increase the risk of various psychopathological problems in this population. The article reviews the characteristics of changes in RewP among children and adolescents with various internalizing and externalizing problems in recent years, aiming to provide a reference for the basic research on the pathogenesis of these issues and to identify new targets for clinical diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"109-114"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013533","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":"[Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].","authors":"Xin Li, Tian Wen, Bi-Yun Feng, Xiu-Min Wang","doi":"10.7499/j.issn.1008-8830.2409047","DOIUrl":"10.7499/j.issn.1008-8830.2409047","url":null,"abstract":"<p><p>Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%. Short stature in these patients arises from multiple causes, including feeding difficulties in infancy, comorbidities such as congenital heart disease, genetic heterogeneity, and disorders of the growth hormone/insulin-like growth factor-1 axis. Growth hormone is commonly used to alleviate symptoms of short stature. This article reviews the growth and development patterns at different stages of NS, analyzes the causes of short stature, and summarizes the latest advances in treatment to provide new insights for the diagnosis and management of short stature in patients with NS.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 1","pages":"33-38"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013450","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}