中国当代儿科杂志最新文献

{"title":"[Febrile infection-related epilepsy syndrome caused by hemophagocytic lymphohistiocytosis: a case report].","authors":"Xiao-Lu Deng, Li-Fen Yang, Xia Wang, Hui Zhang, Jian He, Jing Peng","doi":"10.7499/j.issn.1008-8830.2503079","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2503079","url":null,"abstract":"<p><p>The patient was a girl, aged 10 years, who was admitted due to fever for 5 days and pancytopenia in peripheral blood for 2 days. Bone marrow examination showed the presence of phagocytic activity, and peripheral blood tests showed pancytopenia, an increase in ferritin, a reduction in fibrinogen, increases in triglyceride and sCD25, and a reduction in natural killer cell activity, which led to the diagnosis of hemophagocytic lymphohistiocytosis (HLH). On the day of admission, the child developed convulsions and rapidly progressed to refractory status epilepticus, which was consistent with the manifestations of febrile infection-related epilepsy syndrome. HLH was controlled after active immunotherapy, with the sequela of refractory epilepsy, and her cognitive function was essentially within normal limits. This article reports the condition of febrile infection-related epilepsy syndrome caused by HLH for the first time in China, in order to improve the awareness of this disease among clinicians.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"864-869"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691836","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":"[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].","authors":"Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, Xiu-Jing Li, Jin-Xian Guo, Pi-Liang Chen, Ling Hui, Zhen-Qiang DA, You-Sheng Yan","doi":"10.7499/j.issn.1008-8830.2502040","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2502040","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the <i>PAH</i> gene.</p><p><strong>Results: </strong>For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).</p><p><strong>Conclusions: </strong>Deep intronic variant analysis of the <i>PAH</i> gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for <i>PAH</i> hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"808-814"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691837","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 progress on the cGAS-STING signaling pathway in immune-mediated inflammatory diseases in children].","authors":"Xin-Yue Wei, Xiao-Juan Gong, Hong Ji","doi":"10.7499/j.issn.1008-8830.2412098","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2412098","url":null,"abstract":"<p><p>The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon gene (STING) signaling pathway is a crucial component of the immune system. It detects abnormal cytosolic double-stranded DNA and promotes the expression of type I interferons and other inflammatory factors, thereby protecting the body from pathogenic infections. In children, an immature immune system or genetic mutations can lead to immune dysregulation, increasing the risk of autoimmune diseases (AID) and autoinflammatory diseases. Recent studies have shown that aberrant activation of the cGAS-STING signaling pathway is associated with the development of AID and autoinflammatory diseases in children. This review summarizes the research progress on the cGAS-STING signaling pathway in childhood AID and autoinflammatory diseases, aiming to provide new directions for clinical diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"881-887"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691843","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":"[Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal transport (2025)].","authors":"","doi":"10.7499/j.issn.1008-8830.2412152","DOIUrl":"10.7499/j.issn.1008-8830.2412152","url":null,"abstract":"<p><p>Neonatal transport is a crucial aspect of clinical work in neonatology, aimed at timely and safely transferring high-risk neonates from birth facilities or primary healthcare institutions to neonatal centers equipped for critical care. This ensures timely diagnosis and treatment, thereby reducing mortality and complications and improving outcomes. Currently, there is significant regional variation in neonatal transport practices across China. In response, the Subspecialty Group of Neonatology of Society of Pediatrics of Chinese Medical Association and the Editorial Board of <i>Chinese Journal of Contemporary Pediatrics</i> have jointly developed the \"Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal transport (2025)\". This guideline addresses 10 clinical issues related to neonatal transport and formulates 18 recommendations based on the best available evidence and expert consensus. It aims to provide a systematic approach to neonatal transport in primary care settings, tailored to the national context of China, offering guidance and decision-making support for primary healthcare providers.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"759-769"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691838","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":"[Explanation and interpretation of blood transfusion provisions for children undergoing cardiac surgery in the national health standard \"Guideline for pediatric transfusion\"].","authors":"Rong Huang, Qing-Nan He, Ming-Yan Hei, Ming-Hua Yang, Xiao-Fan Zhu, Jun Lu, Xiao-Jun Xu, Tian-Ming Yuan, Rong Zhang, Xu Wang, Jing Wang, Zhi-Li Shao, Ming-Yi Zhao, Yong-Jian Guo, Xin-Yin Wu, Jia-Rui Chen, Qi-Rong Chen, Jia Guo, Rong Gui, Jin-Ping Liu","doi":"10.7499/j.issn.1008-8830.2503114","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2503114","url":null,"abstract":"<p><p>To guide clinical blood transfusion practices in pediatric patients, the National Health Commission has issued the health standard \"Guideline for pediatric transfusion\" (WS/T 795-2022). Children undergoing cardiac surgery are at high risk of bleeding, and the causes of perioperative anemia and coagulation disorders in neonates and children are complex and varied, often necessitating the transfusion of allogeneic blood components. This guideline provides direction and recommendations for specific measures in blood management for children undergoing cardiac surgery before, during, and after surgery. This article interprets the background and evidence for the formulation of the blood transfusion provisions for children undergoing cardiac surgery, hoping to facilitate the understanding and implementation of this guideline.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"778-785"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Risk factors and construction of a risk prediction model for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn].","authors":"Pei-Xian Yue, Hong-Ling Cao, Rong Li","doi":"10.7499/j.issn.1008-8830.2412037","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2412037","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the readmission rate and risk factors for readmission due to hyperbilirubinemia in neonates with ABO hemolytic disease of the newborn (ABO-HDN), and to construct a risk prediction model for readmission.</p><p><strong>Methods: </strong>Neonates diagnosed with hyperbilirubinemia due to ABO-HDN and hospitalized in the neonatal department between January 2021 and December 2023 were enrolled. Based on readmission status, neonates were divided into a readmission group and a control group. Clinical characteristics related to hyperbilirubinemia and risk factors for readmission were analyzed. Subsequently, a prediction model for readmission was constructed, and its predictive performance was evaluated.</p><p><strong>Results: </strong>A total of 483 neonates with hyperbilirubinemia due to ABO-HDN were included. The readmission rate was 13.0% (63 cases). Multivariate logistic regression analysis revealed that earlier age at phototherapy initiation, longer duration of phototherapy, occurrence of rebound hyperbilirubinemia, and higher levels of serum total bilirubin and indirect bilirubin at discharge were independent risk factors for hyperbilirubinemia readmission in ABO-HDN neonates (<i>OR</i>=2.373, 4.840, 6.475, 5.033, 1.336 respectively; <i>P</i><0.05). A risk prediction model for ABO-HDN hyperbilirubinemia readmission was constructed based on these 5 risk factors. Model evaluation demonstrated good predictive performance.</p><p><strong>Conclusions: </strong>Age at phototherapy initiation, duration of phototherapy, occurrence of rebound hyperbilirubinemia, and serum total bilirubin and indirect bilirubin levels at discharge are significant influencing factors for readmission due to hyperbilirubinemia in neonates with ABO-HDN. Close monitoring during discharge planning and follow-up management for such neonates is crucial to reduce readmission rates.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"834-841"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691844","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":"[Quality of life and its influencing factors in children and adolescents with type 1 diabetes in Xinjiang].","authors":"Rui-Ling Lei, Muzhapaer Maimaitiabudula, Yan Ma, Xia Huang, Rui Cao, Yun Chen, Jia Guo","doi":"10.7499/j.issn.1008-8830.2410080","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2410080","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the current status and influencing factors of quality of life in children and adolescents with type 1 diabetes (T1DM) in Xinjiang.</p><p><strong>Methods: </strong>A convenience sampling method was used to select 259 children with T1DM and their primary caregivers who attended three tertiary hospitals in Xinjiang from January 2023 to February 2024. The Pediatric Quality of Life Inventory^TM Version 4.0 Generic Core Scales (PedsQL^TM4.0) and Pediatric Quality of Life Inventory^TM Version 3.2 Diabetes Module (PedsQL^TM3.2-DM) were used to assess the quality of life of the children. Information on family demographics, caregiver burden, and caregiving ability was also collected. Multiple linear regression analysis was employed to identify factors associated with the quality of life of the children.</p><p><strong>Results: </strong>The scores for PedsQL^TM4.0 and PedsQL^TM3.2-DM were 77±16 and 71±16, respectively. Both were negatively correlated with caregiver burden (<i>P</i><0.05) and positively correlated with caregiving ability (<i>P</i><0.05). Multiple linear regression analysis indicated that caregiver burden, caregiving ability, family income, and parent-child relationship were significantly associated with generic quality of life (<i>P</i><0.05), whereas caregiver burden, caregiving ability, disease duration, place of residence, and glycated hemoglobin level were significantly associated with diabetes-specific quality of life (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>The overall quality of life of children and adolescents with T1DM in Xinjiang is relatively low. The quality of life is influenced by a combination of factors including family caregiver burden, caregiving ability, family income, parent-child relationship, disease duration, place of residence, and glycated hemoglobin level. Strategies to improve quality of life should consider the combined impact of individual disease characteristics and family factors.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"815-821"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the <i>UBE2A</i> gene: a case report and literature review].","authors":"Dan Xu, Jia-Yang Xie, Xiao-Li Zhang, Meng-Yue Wang, Man-Man Chu, Rui Han, Jun-Ling Wang, Xiao-Li Li, Tian-Ming Jia","doi":"10.7499/j.issn.1008-8830.2412177","DOIUrl":"10.7499/j.issn.1008-8830.2412177","url":null,"abstract":"<p><p>This article reports the clinical features and gene mutation types of a large family with Nascimento form of syndromic X-linked intellectual developmental disorder (MRXSN), involving 9 individuals across 3 generations, and a literature review was conducted. In this family, 9 individuals had similar manifestations including mental retardation and unusual facies, and 4 of them had passed away. Genetic testing showed that the proband had the deletion of exons 2-3 of the <i>UBE2A</i> gene, which was inherited from the mother. Fluorescent quantitative polymerase chain reaction showed that the proband and his uncle had the deletion of exons 2-3 of the <i>UBE2A</i> gene; the proband's mother, grandmother, and great-aunt had a heterozygous deletion of exons 2-3 of the <i>UBE2A</i> gene; the proband's father, sister, and aunt had a normal copy number of exons 2-3 of the <i>UBE2A</i> gene. The 34 patients reported in the literature had diverse clinical phenotypes, and <i>UBE2A</i> gene mutations (22/34, 65%) and large fragment deletions (12/34, 35%) were the main mutation types. Moderate to severe mental retardation (34/34, 100%), speech and language impairment (33/34, 97%), and unusual facies (32/34, 94%) were the main clinical manifestations of MRXSN patients. The disease has obvious phenotypic heterogeneity, and early diagnosis facilitates optimal prenatal and postnatal management to improve reproductive outcomes.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"859-863"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691886","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":"[Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal vomiting (2025)].","authors":"","doi":"10.7499/j.issn.1008-8830.2412163","DOIUrl":"https://doi.org/10.7499/j.issn.1008-8830.2412163","url":null,"abstract":"<p><p>To assist primary healthcare personnel in promptly and accurately identifying neonatal vomiting, providing precise diagnosis, standardized treatment, or timely referral for rescue, thereby reducing the occurrence of complications and ensuring the health of infants, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association has organized experts to formulate this consensus based on the latest clinical research advancements and thorough discussions. This consensus addresses eight common clinical issues faced by primary healthcare personnel and forms 21 recommendations.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"770-777"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Two cases of Coffin-Siris syndrome type 3 caused by <i>de novo</i><i>SMARCB1</i> gene mutations].","authors":"Ying Jin, Meng-Qiu Li, Yan-Ling Yang","doi":"10.7499/j.issn.1008-8830.2501013","DOIUrl":"10.7499/j.issn.1008-8830.2501013","url":null,"abstract":"<p><p>Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the <i>SMARCB1</i> gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"870-874"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691857","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}