中国当代儿科杂志最新文献

{"title":"[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].","authors":"Cui-Yun Li, Ying Xu, Ru-En Yao, Ying Yu, Xue-Ting Chen, Wei Li, Hui Zeng, Li-Ting Chen","doi":"10.7499/j.issn.1008-8830.2502003","DOIUrl":"10.7499/j.issn.1008-8830.2502003","url":null,"abstract":"<p><p>This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a \"pathogenic variant\". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"854-858"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691887","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":"[Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal urinary tract infection (2025)].","authors":"","doi":"10.7499/j.issn.1008-8830.2412183","DOIUrl":"10.7499/j.issn.1008-8830.2412183","url":null,"abstract":"<p><p>To effectively assist primary healthcare providers in timely identification, early diagnosis, and early treatment of neonatal urinary tract infections (UTIs), thereby reducing missed diagnoses and improving outcomes, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association and the Editorial Board of <i>Chinese Journal of Contemporary Pediatrics</i> organized experts to integrate the latest clinical research progress on neonatal UTIs. Following comprehensive discussions, the \"Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal urinary tract infection (2025)\" was developed. This consensus covers 10 common clinical issues faced by primary healthcare providers regarding neonatal UTIs and formulates 17 recommendations.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1038-1044"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081945","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":"[Causal relationship between <i>Helicobacter pylori</i> infection and childhood immune thrombocytopenia and influencing factors for prognosis].","authors":"Xiao-Yang Zhou, Mei Yan, Ying-Bin Yue, Hailigulli Nuriddin, Xue-Mei Wang, Yong-Feng Cheng, Chun-Can Wu, Yu Liu","doi":"10.7499/j.issn.1008-8830.2412180","DOIUrl":"10.7499/j.issn.1008-8830.2412180","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the causal relationship between <i>Helicobacter pylori</i> (Hp) infection and immune thrombocytopenia (ITP) using Mendelian randomization (MR), as well as the association between Hp infection and chronic ITP (cITP) through a clinical study.</p><p><strong>Methods: </strong>The datasets from genome-wide association studies were used to select the single nucleotide polymorphism loci significantly associated with Hp infection as genetic instrumental variables. The MR analysis model was used to investigate the causal relationship between ITP and Hp infection. A retrospective analysis was conducted on the medical data of 316 children with newly diagnosed ITP at the First Affiliated Hospital of Xinjiang Medical University from January 2020 to December 2023. The children were followed up for 1 year, and a multivariate logistic regression analysis was used to investigate the risk factors for cITP.</p><p><strong>Results: </strong>The inverse variance weighted analysis revealed that Hp infection was significantly associated with an increased risk of ITP (<i>OR</i>=1.280, 95%<i>CI</i>: 1.098-1.492, <i>P</i>=0.002). There was no heterogeneity or pleiotropy in this MR study (<i>P</i>>0.05), and the model was stable. The \"leave-one-out\" sensitivity analysis verified the reliability of the results. The multivariate logistic regression analysis demonstrated that Hp infection was an independent risk factor for progression to cITP (<i>OR</i>=7.916, 95%<i>CI</i>: 3.327-18.832, <i>P</i><0.001).</p><p><strong>Conclusions: </strong>Hp infection is a risk factor for the onset of ITP and is an independent risk factor for cITP in children.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1105-1112"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081869","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":"[Feasibility study on the clinical translation of a remote jaundice monitoring system for home-based screening of neonatal hyperbilirubinemia].","authors":"Xiao-Fan Sun, Yi Zheng, Ai-Ling Su, Shu-Ping Han, Xiao-Yue Dong","doi":"10.7499/j.issn.1008-8830.2503110","DOIUrl":"10.7499/j.issn.1008-8830.2503110","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the clinical utility and translational potential of a remote jaundice monitoring system for home-based screening of neonatal hyperbilirubinemia.</p><p><strong>Methods: </strong>A prospective self-controlled study was conducted, enrolling 538 newborns with gestational age ≥35 weeks, birth weight ≥2 000 g, and postnatal age ≤14 days at the Women's Hospital of Nanjing Medical University from March to October 2023. Four screening protocols with different predictive indicators were developed based on the Chinese Neonatal Transcutaneous Hourly Bilirubin Nomogram. The effectiveness of the system was evaluated, and the feasibility of using the remote jaundice monitoring system in actual home settings was analyzed.</p><p><strong>Results: </strong>A total of 538 paired transcutaneous bilirubin (TcB) and total serum bilirubin (TSB) measurements showed a strong correlation (<i>r</i>=0.85, <i>P</i><0.001), with 95.0% (511/538) of samples within the 95% limits of agreement. Using TcB ≥ the 95th percentile as the predictive indicator, the system achieved 100% sensitivity, 46.2% specificity, and an area under the receiver operating characteristic curve of 0.731 (95%<i>CI</i>: 0.682-0.780). This approach could reduce unnecessary hospital visits by 41.4% (221/538).</p><p><strong>Conclusions: </strong>The system integrates the QBH-801 transcutaneous bilirubinometer, intelligent early warning, and remote guidance services, establishing a closed-loop \"hospital-to-home\" management model. It demonstrates high safety and feasibility, with significant clinical translational value.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1057-1061"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081877","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":"[Effects of <i>MTHFR</i> and <i>GGH</i> gene polymorphisms on plasma concentrations and toxicity following high-dose methotrexate therapy in children with acute lymphoblastic leukemia].","authors":"Lin-Xiao Teng, Qi An, Lei Wang, Nan Wang, Qing-Ling Kong, Rui Han, Yuan Wang, Lu Liu, Yan Wang, Shu-Mei Xu, Kun-Peng Shi, Fang-Shan Qiu, Xi-Xi DU, Jin-Rui Shi","doi":"10.7499/j.issn.1008-8830.2411059","DOIUrl":"10.7499/j.issn.1008-8830.2411059","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the effects of methylenetetrahydrofolate reductase (<i>MTHFR</i>) rs1801133 and γ-glutamyl hydrolase (<i>GGH</i>) rs11545078 gene polymorphisms on plasma concentrations and toxicity following high-dose methotrexate (MTX) therapy in children with acute lymphoblastic leukemia (ALL).</p><p><strong>Methods: </strong>Children with ALL treated at the Xuzhou Children's Hospital of Xuzhou Medical University from January 2021 to April 2024 were selected for this study. Genotypes of <i>MTHFR</i> rs1801133 and <i>GGH</i> rs11545078 were determined using multiplex polymerase chain reaction. MTX plasma concentrations were measured by enzyme-multiplied immunoassay technique, and toxicity was graded according to the Common Terminology Criteria for Adverse Events version 5.0. The relationships between <i>MTHFR</i> rs1801133 and <i>GGH</i> rs11545078 genotypes and both MTX plasma concentrations and associated toxicities were analyzed.</p><p><strong>Results: </strong>In the low-risk ALL group, the <i>MTHFR</i> rs1801133 genotype was associated with increased MTX plasma concentrations at 72 hours (<i>P</i><0.05). In the intermediate- to high-risk group, the <i>MTHFR</i> rs1801133 genotype was associated with increased MTX plasma concentrations at 48 hours (<i>P</i><0.05), and the <i>GGH</i> rs11545078 genotype was associated with increased MTX plasma concentrations at 48 hours (<i>P</i><0.05). In the intermediate- to high-risk group, the <i>MTHFR</i> rs1801133 genotype was associated with the occurrence of reduced hemoglobin (<i>P</i><0.05), and the <i>GGH</i> rs11545078 genotype was associated with the occurrence of thrombocytopenia (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>Detection of <i>MTHFR</i> rs1801133 and <i>GGH</i> rs11545078 genotypes can be used to predict increased MTX plasma concentrations and the occurrence of toxic reactions in high-dose MTX treatment of ALL, enabling timely interventions to enhance safety.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"802-807"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691833","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 the inhibitory effect of chondroitin sulfate proteoglycans on axon growth after premature white matter injury and its underlying mechanisms].","authors":"Xiao-Jie Tian, Rui-Wei Gao, Chao Chen","doi":"10.7499/j.issn.1008-8830.2502018","DOIUrl":"10.7499/j.issn.1008-8830.2502018","url":null,"abstract":"<p><p>White matter injury (WMI) is a major form of brain injury in preterm infants. Its characteristic pathological features primarily involve impaired development of oligodendrocyte precursor cells and structural damage to axons, which can lead to the neurological sequelae such as motor, behavioral, and cognitive dysfunctions. Chondroitin sulfate proteoglycans (CSPGs), as the important components of extracellular matrix, can participate in neuroinflammatory response mediated by microglial cells and dynamically balance glial scar reconstruction and axon growth by regulating specific receptors and signaling pathways. This article reviews the relationship between CSPGs and WMI, as well as the mechanisms by which CSPGs inhibit axon growth, focusing on the role of multi-target regulation of CSPGs in promoting axon plasticity and functional brain recovery, thereby providing a theoretical basis for improving the prognosis of preterm infants with WMI.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"875-880"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691842","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":"[Eculizumab in the treatment of systemic lupus erythematosus complicated by thrombotic microangiopathy: a case report].","authors":"Heng Liu, Pan-Li Liao, Xiao-Wen Wang","doi":"10.7499/j.issn.1008-8830.2502059","DOIUrl":"10.7499/j.issn.1008-8830.2502059","url":null,"abstract":"<p><p>The patient was a girl aged 10 years and 10 months, with weakness, pale complexion, and rash as the initial presentation. She had the manifestations of anemia, thrombocytopenia, hematuria-proteinuria with renal insufficiency, hypocomplementemia, polyserositis, and positive anti-nuclear antibody and anti-dsDNA antibody. The girl was initially diagnosed with systemic lupus erythematosus and lupus nephritis. She demonstrated a suboptimal response to methylprednisolone pulse therapy, intravenous immunoglobulin administration, and therapeutic plasma exchange. She had persistent anemia, thrombocytopenia, abnormal renal function, elevated lactate dehydrogenase, decreased complement factors H and I, increased antibodies to C3 converting enzyme, and normal ADAMTS13 activity. She was diagnosed with complement-mediated hemolytic thrombotic microangiopathy secondary to systemic lupus erythematosus. The patient's condition improved after treatment with two doses of eculizumab (600 mg per dose). Patients with systemic lupus erythematosus complicated by thrombotic microangiopathy often have a severe disease course and poor prognosis; therefore, early recognition and aggressive intervention are crucial for improving outcomes.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1134-1139"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081936","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":"[Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal infectious pneumonia (2025)].","authors":"","doi":"10.7499/j.issn.1008-8830.2412164","DOIUrl":"10.7499/j.issn.1008-8830.2412164","url":null,"abstract":"<p><p>In order to enhance the ability of primary healthcare providers to recognize and manage neonatal infectious pneumonia, and to reduce the incidence and mortality of severe neonatal pneumonia, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association convened a panel of experts to review and synthesize the latest clinical evidence on neonatal infectious pneumonia. After thorough discussion, this guideline was developed to address 10 common clinical issues faced by primary healthcare providers regarding neonatal infectious pneumonia, resulting in 18 recommendations.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1027-1037"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081991","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 pathogenesis and treatment strategies of Duchenne muscular dystrophy].","authors":"Yi-Zhi Ye, Li-Wen Wu","doi":"10.7499/j.issn.1008-8830.2503105","DOIUrl":"10.7499/j.issn.1008-8830.2503105","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized primarily by progressive degeneration and necrosis of skeletal muscle, resulting from mutations in the <i>Dystrophin</i> gene. Patients with DMD typically present with progressive muscle weakness and atrophy during childhood. Currently, available treatment options for DMD remain limited and their efficacy is suboptimal. This review aims to provide a systematic overview of recent advances in therapeutic strategies for DMD, including an analysis of the mechanisms underlying various treatment approaches, outcomes from clinical trials, and their potential clinical applications, in order to inform and guide clinical decision-making.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 9","pages":"1143-1148"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082032","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":"[Potential impact of adjusting immunization procedure for diphtheria-tetanus-pertussis vaccine on pertussis in clinical practice].","authors":"Ya-Hong Hu, Kai-Hu Yao","doi":"10.7499/j.issn.1008-8830.2501077","DOIUrl":"10.7499/j.issn.1008-8830.2501077","url":null,"abstract":"<p><p>In recent years, the incidence rate of pertussis in China has been steadily increasing, presenting an increasingly severe challenge for disease prevention and control. To strengthen the immune barrier in the population and effectively curb the spread of pertussis, National Disease Control and Prevention Administration of China and other relevant authorities optimized the immunization procedure for diphtheria-tetanus-pertussis vaccine, with the new procedure implemented in 2025. This adjustment includes three key measures: advancing the initial dose of the vaccine from 3 months to 2 months of age, extending the interval between primary immunization doses from 1 month to 2 months, and adding an extra dose of acellular diphtheria-tetanus-pertussis vaccine at 6 years of age. This article discusses potential changes in the epidemiology and clinical manifestations of pertussis following such adjustments for immunization procedure, and awareness of these changes will facilitate the accurate identification of pertussis cases, which is crucial for evaluating the impact of these adjustments and further optimizing immunization strategies.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"786-791"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691840","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}