Loading...
Journal Information
Journal of Clinical Pediatrics
(Monthly, founded in 1983)
Governed by:Shanghai Jiao Tong University
Sponsored by:Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
   
Published by:Editorial Office of Journal of Clinical Pediatrics
Editor-in-Chief:SUN Kun
Address:1665 Kongjiang Road, Yangpu District, Shanghai.
Postal Code:200092
Phone:(021)25076489
E-mail: jcperke@126.com

Table of Content

    15 July 2026 Volume 44 Issue 7
      
    Standard · Protocol · Guideline
    Core interpretation and explanation of Rome Ⅴ diagnostic criteria: upper gastrointestinal disorders of gut-brain interaction in children and adolescents
    Rachel Rosen, Osvaldo Borrelli, Christophe Faure, Katja Karrento, Usha Krishnan, Samuel Nurko, Nathalie Rommel, Alan Silverman, Michiel van Wijk, Marc Benninga (Author), Chinese Medical Association Parenteral and Enteral Nutrition Branch Pediatrics Group, The Subspecialty Group of Gastroenterology, The Society of Pediatric, Chinese Medical Association, Gastroenterology Group, Pediatrician Branch, Chinese Medical Doctor Association (Translator)
    Journal of Clinical Pediatrics. 2026, 44(7):  595-608.  doi:10.12372/jcp.2026.26e0787
    Abstract ( )   HTML ( )   PDF (1821KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Upper gastrointestinal disorders of gut-brain interaction (DGBI) present from infancy through adolescence. The Rome V Criteria have expanded to include DGBI of the esophagus, disorders of air-transit, and feeding disorders, as well as rumination syndrome, cyclic vomiting, chronic nausea syndrome, and functional dyspepsia. This expansion provides a diagnostic framework for patients presenting with chest and throat pain, feeding difficulties, belching, pain with eating, nausea, and vomiting. Given the advances in impedance technology and high-resolution manometry, testing plays a greater role in many of these diagnostic criteria than they have in past Rome iterations. This harmony between symptoms and testing results in more precision in therapeutic approaches that are critically multidisciplinary. The ability to assign new, positive diagnoses across the upper gastrointestinal tract offers new opportunities for pediatric-focused therapeutic trials.

    Core interpretation and explanation of Rome Ⅴ diagnostic criteria: lower and biliary disorders of gut-brain interaction in children and adolescents
    Carlo Di Lorenzo, Miguel Saps, Bruno P. Chumpitazi, Shaman Rajindrajith, Annamaria Staiano, Nikhil Thapar, Miranda van Tilburg, Carlos Velasco-Benítez, Arine Vlieger (Author), Chinese Medical Association Parenteral and Enteral Nutrition Branch Pediatrics Group, The Subspecialty Group of Gastroenterology, The Society of Pediatric, Chinese Medical Association, Gastroenterology Group, Pediatrician Branch, Chinese Medical Doctor Association (Translator)
    Journal of Clinical Pediatrics. 2026, 44(7):  609-621.  doi:10.12372/jcp.2026.26e0788
    Abstract ( )   HTML ( )   PDF (1536KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Rome V provides updated criteria for pediatric disorders of gut-brain interaction, replacing age-based subdivisions with a classiffcation based on the following regions and symptom patterns: abdominal pain disorders, defecation and anorectal disorders, and discomfort disorders. New entities were introduced, including biliary pain syndrome, centrally mediated abdominal pain syndrome, functional abdominal bloating, and proctalgia fugax. The term “infantile colic” has been replaced with “infant distress syndrome.” Existing criteria for irr itable bowel syndrome, functional constipation, and nonretentive fecal incontinence were revised to improve diagnostic clarity and reffect current clinical understanding. Rome V also acknowledges that disorders of gut-brain interaction may coexist with other conditions producing gastrointestinal symptoms. These updates are intended to support a more consistent diagnostic framework and guide appropriate management strategies for children and adolescents.

    Clinical Research
    Clinical characteristics, chest CT imaging phenotypes, and their correlation with prognosis in 76 children with Chlamydia pneumoniae pneumonia
    LI Xufeng, TANG Haoxun, LI Xingjun, ZHANG Lize, GAO Chenqing, ZHAO Shunying, LIU Jianhua
    Journal of Clinical Pediatrics. 2026, 44(7):  622-627.  doi:10.12372/jcp.2026.26e0305
    Abstract ( )   HTML ( )   PDF (1722KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To analyze the clinical characteristics of pediatric Chlamydia pneumoniae pneumonia (CPP) and explore the correlation between chest CT imaging classification and prognosis. Methods A retrospective analysis was conducted on clinical data from 76 children with CPP admitted between March 2024 and January 2026. Patients were classified into four CT patterns according to chest imaging features. Clinical manifestations, bronchoscopic results, and outcomes were compared among groups. Results Among the 76 cases, there were 43 boys and 33 girls, with a mean age at presentation of 12.2 ± 2.75 years. The main symptoms were cough (76/76, 100%) and fever (39/76, 51.3%), with a mean febrile duration of 3.59 days and median body temperature of 38.3 ℃; systemic infection signs were mild. Mean hospital stay was 9.78 ± 4.84 days. Pathogen detection was achieved by targeted next-generation sequencing of bronchoalveolar lavage fluid in 61 cases (80.2%) and by throat swab PCR in 15 cases (19.7%). Bronchoscopy revealed mucosal erosion, necrosis or hemorrhage in 43 cases (56.6%), ventilation impairment in 27 cases (35.5%), and distal subsegmental occlusion in 3 cases (3.9%). Lesion resolution rates differed significantly among types: large consolidation without air bronchogram had the lowest resolution rate (48.3%), which was significantly lower than that of the mass-like type (94.1%) and the large consolidation with air bronchogram type (88.5%), χ2=16.22, P<0.001. Conclusion Chest radiographic findings in pediatric CPP play a crucial role in guiding therapeutic strategies and predicting clinical outcomes. The "large consolidation without air bronchogram" pattern is significantly associated with poor lesion resolution, indicating the need for individualized treatment strategies and closer follow-up in affected patients.

    Factors influencing long-term recurrence in pediatric acute lymphoblastic leukemia patients with low-risk disease at initial diagnosis: a five-year follow-up analysis of 254 cases from a single center
    WANG Zhen, SHAO Jingbo, ZHANG Na, XIA Min, ZHU Jiashi, DU Chengkan, LI Hong
    Journal of Clinical Pediatrics. 2026, 44(7):  628-635.  doi:10.12372/jcp.2026.25e0888
    Abstract ( )   HTML ( )   PDF (1487KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To investigate the overall long-term prognosis and associated influencing factors in children with newly diagnosed low-risk acute lymphoblastic leukemia (ALL), and to provide evidence for precision stratified treatment strategies. Methods Clinical data of 254 children with newly diagnosed low-risk ALL admitted to our institution between January 2009 and December 2019 were retrospectively analyzed. Among them, 111 patients were treated with the CCCG-ALL 2009 protocol (from January 2009 to March 2015), and 143 with the CCCG-ALL 2015 protocol (from April 2015 to December 2019). Clinical characteristics, dynamic minimal residual disease (MRD) monitoring data, and follow-up outcomes were collected. Survival analyses were performed using Kaplan-Meier curves, with intergroup comparisons via the Log-rank test. Independent prognostic factors were identified using Cox proportional hazards regression models. Results The median age of included patients was 3 (1-13) years, with a median follow-up duration of 94 (1-186) months. The 5-year relapse-free survival (RFS) and overall survival (OS) rates were (88.3±2.0)% and (94.0±1.5)%, respectively; the 10-year RFS and OS rates were (86.0±2.3)% and (93.2±1.7)%, respectively. No statistically significant differences were observed in overall 5-year RFS or OS between the CCCG-ALL 2009 and 2015 protocol groups (all P>0.05). However,in the TEL/AML1-positive subgroup, the 2015 protocol group exhibited significantly superior 5-year RFS compared to the 2009 group (95.3% vs.76.8%, P=0.047). Univariate analysis revealed that bone marrow non-remission on day 19, MRD≥1.0% on day 19, and MRD≥0.01% post-consolidation were associated with adverse prognosis (all P<0.05). Multivariate Cox regression confirmed that post-consolidation MRD≥0.01% was an independent risk factor for RFS (HR=2.348, 95% CI: 1.040-5.300, P=0.040). The overall recurrence rate was 12.9%, with isolated bone marrow recurrence accounting for 66.7% of cases. The 5-year OS after salvage therapy in patients with isolated bone marrow recurrence (63.7%) was significantly lower than that in those with isolated extramedullary or combined recurrence (100%, P=0.045). Conclusions Children with newly diagnosed low-risk ALL have a favorable overall long-term prognosis. Post-consolidation MRD≥0.01% is an independent prognostic risk factor for this population. Dynamic MRD monitoring facilitates the identification of high-risk subsets and guides treatment intensification. The optimized CCCG-ALL 2015 protocol maintains therapeutic efficacy while potentially reducing treatment-related toxicity.

    Clinical features and prognosis of childhood acute myeloid leukemia with CBFA2T3::GLIS2 fusion
    GUO Xuemei, XUE Yao, WANG Yongren, RONG Liucheng, FANG Yongjun, LIN Rufeng
    Journal of Clinical Pediatrics. 2026, 44(7):  636-643.  doi:10.12372/jcp.2026.25e1170
    Abstract ( )   HTML ( )   PDF (2456KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To investigate the clinical characteristics, treatment response, and prognosis of childhood acute myeloid leukemia (AML) with the CBFA2T3::GLIS2 fusion gene. Methods The clinical data of 6 children with CBFA2T3::GLIS2-positive AML treated at our hospital from June 2020 to May 2023 were retrospectively analyzed, including general information, clinical manifestations, laboratory results, bone marrow morphology, immunophenotype, molecular genetic features, treatment regimens, and follow-up outcomes. Results Among the 6 patients, 5 were males and 1 was female, and the median age at onset was 16 (9-19)months. Five patients presented with fever and 1 with abdominal pain. The median leukocyte count at diagnosis was 14.74 (5.07-48.54)×109/L. Four cases were classified as FAB (French-American-British) M7 and 2 as M0. All patients harbored the CBFA2T3::GLIS2 fusion confirmed by molecular testing. One patient was lost to follow-up after one course of induction chemotherapy. The remaining 5 patients received high-risk induction therapy according to the CCLG-AML-2019 (China Children's Leukemia Group-AML-2019) protocol. After two cycles of induction chemotherapy, the morphological complete remission (CR) rate was 80.0% (4/5), and the minimal residual disease (MRD) negative rate was 20.0% (1/5). After three cycles of chemotherapy, the MRD negative rate increased to 60.0% (3/5). All 5 patients underwent allogeneic hematopoietic stem cell transplantation (HSCT), including 2 haploidentical and 3 umbilical cord blood transplants. Two patients relapsed and died after HSCT, while 3 remained in continuous remission. At the last follow-up, the median follow-up duration was 17 (12-31) months, and the 2-year overall survival (OS) rate was 60.0%. Conclusion AML with CBFA2T3::GLIS2 fusion in children is more common in male infants, with M7 subtype being frequent, and the overall prognosis remains unsatisfactory. Hematopoietic stem cell transplantation may improve the survival of some children, and pre-transplant MRD and fusion gene burden appear to have an important impact on transplantation outcomes. The role of demethylating agents as maintenance therapy and novel targeted strategies warrants further investigation in larger, prospective cohorts.

    Clinical manifestation and genetic analysis of CHARGE syndrome caused by CHD7 gene variation
    YANG Lijun, FU Dongxia, CUI Yan, YANG Junmei, ZHANG Liming
    Journal of Clinical Pediatrics. 2026, 44(7):  644-650.  doi:10.12372/jcp.2026.25e1161
    Abstract ( )   HTML ( )   PDF (1975KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To summarize the clinical features and genetic characteristics of children with CHARGE syndrome caused by CHD7 gene variants, thereby enriching the mutation spectrum of the CHD7 gene. Methods We retrospectively analyzed clinical and genetic data from 13 patients diagnosed with CHARGE syndrome due to confirmed CHD7 gene variants between January 2018 and December 2024 at our hospital, using whole-exome sequencing and Sanger sequencing for validation, and performed pathogenicity analysis. Results Among the 13 patients, 9 were male and 4 female, with an age at initial diagnosis ranging from 1 day to 12 years. Nine presented in the neonatal period due to respiratory distress and swallowing/feeding difficulties, while four were referred for developmental delay and genital abnormalities. The most common clinical phenotypes included growth and developmental delay (13/13), swallowing/feeding difficulties (12/13), ear malformations (11/13), cardiac defects (10/13), cranial nerve dysfunction (10/13), and genital anomalies (9/13). All 13 patients carried CHD7 gene variants, including six frameshift mutations, four nonsense mutations, and three missense mutations. Three novel variants c.2630_2631dup (p.Asn878Leufs*11), c.2233_2235delinsAATA (p.Val745Asnfs*17), and c.2824A>G (p.Thr942Ala) (NM_017780) had not been previously reported. Family-based testing revealed that 12 variants were de novo, while one (c.2824A>G) was inherited from a clinically unaffected mother. ACMG classification indicated that c.2630_2631dup and c.2233_2235delinsAATA were pathogenic (PVS1+PS2+PM2_Supporting), c.2824A>G was classified as a variant of uncertain significance (PM2_Supporting+PP4), and the rest were previously reported pathogenic or likely pathogenic variants. Conclusions CHARGE syndrome presents with a broad range of clinical phenotypes, often manifesting initially in newborns with respiratory and feeding difficulties. This study identified three novel CHD7 gene variants, expanding the known mutation spectrum. Children presenting with multiple malformations and growth/developmental delays should be evaluated for this condition, and genetic testing should be initiated early.

    Public Health and Epidemiological Research
    Newborn birth weight curves for different gestational ages in Shanghai : a retrospective study based on population data from 2004 to 2023
    GAO Yufei, QIAN Naisi, JIN Shan, YANG Zhiyu, LU Huiping, SONG Hualing, WU Cheng, YU Huiting
    Journal of Clinical Pediatrics. 2026, 44(7):  651-659.  doi:10.12372/jcp.2026.25e1646
    Abstract ( )   HTML ( )   PDF (2063KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective To analyze the birth weight status of newborns in Shanghai based on population-wide surveillance, establish a birth weight standard applicable to Shanghai, and construct birth weight curves for newborns at different gestational ages. Method Data on singleton births from 2004 to 2023 were collected from the Shanghai Birth Registration System. Newborns were weighed naked within 12 hours after birth, and gestational age was determined based on the mother's last menstrual period, first-trimester ultrasound, and postnatal gestational age assessment. A generalized additive model for location, scale, and shape (GAMLSS) was used to fit birth weight curves for newborns of both sexes at 24-42 weeks of gestation. Worm plots and residual plots were employed for local and global fit diagnostics, respectively. The optimal model, determined by minimizing the Akaike Information Criterion (AIC) and Schwarz Bayesian Criterion (SBC), was the Box-Cox t distribution combined with penalized B-spline smoothing. The results were compared with the 2022 national standard. Result A total of 3,531,063 newborns were initially included, and after applying inclusion/exclusion criteria, 3,338,459 newborns were analyzed : males 1,762,721 (52.8%) and females 1,575,738 (47.2%), with a male-to-female ratio of 1.12. The mean birth weight was 3334.66 ± 450.84 g (3 383.98 ± 457.10 g for males and 3 279.49 ± 437.19 g for females). Birth weight curves for newborns of both sexes at 24-42 weeks of gestation were established for Shanghai. The results showed that birth weight increased continuously with gestational age for both sexes, with significant growth before 38 weeks and a marked slowdown thereafter. Males consistently had higher birth weights than females, and the sex-based difference widened with advancing gestational age. Compared with the national standard, the overall trend was similar, but Shanghai newborns had significantly higher birth weights at 24-40 weeks, whereas weights at ≥41 weeks were lower than the national standard. Conclusion This study establishes sex-specific birth weight standards for newborns in Shanghai at different gestational ages, reflecting the characteristics of intrauterine growth levels in Shanghai. It highlights differences between Shanghai and national standards across gestational age ranges, providing a reference for clinical diagnosis of abnormal birth weight and assessment of neonatal growth and development.

    Brief Report
    Phenotypic diversity from the same mutation: a family report on ATP1A3 gene mutation-related febrile-induced paroxysmal weakness and encephalopathy
    LI Juan, LIU Yong, JIN Ruifeng
    Journal of Clinical Pediatrics. 2026, 44(7):  660-664.  doi:10.12372/jcp.2026.25e1445
    Abstract ( )   HTML ( )   PDF (1852KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Objective Variations in the ATP1A3 gene are associated with a spectrum of neurological disorders, including fever-induced paroxysmal weakness and encephalopathy (FIPWE). However, genotype-phenotype correlations related to ATP1A3 variants remain incompletely understood. Method This study retrospectively analyzed a family affected by FIPWE, the clinical features and genotype-phenotype correlations of the proband, her elder sister and her mother were reviewed. Results The proband was a girl who first presented at the age of 3 years and 4 months with progressive limb weakness following fever. The weakness rapidly involved bulbar and respiratory functions. Neurological examination revealed flaccid paralysis, absent abdominal reflexes and knee-jerk reflexes, and a Babinski sign on the left side. Whole-exome sequencing identified a missense variant in ATP1A3 in the proband, NM_152296.5:c.2267G>A, p.(Arg756His), in which the nucleotide substitution c.2267G>A results in the replacement of arginine by histidine at residue 756. Both the mother and elder sister presented acute neurological impairment similar to that of the proband after infection at preschool and school age respectively, with residual motor dysfunction and dysarthria of varying severity. Sanger sequencing confirmed that both the mother and elder sister carried the same pathogenic ATP1A3 variant. This family demonstrated infection-triggered onset, familial aggregation and genotype-phenotype co-segregation. Conclusion Clinicians should highly suspect FIPWE syndrome in pediatric patients presenting with acute-onset limb weakness and encephalopathy following fever, combined with signs involving both upper and lower motor neurons. The genotype-phenotype correlation of ATP1A3 related disorders is complicated and warrants further investigation.

    Literature Review
    Research progress on artificial intelligence-assisted heart sound recognition for congenital heart disease
    ZHAO Liudan, ZHOU Xin, SUN Kun
    Journal of Clinical Pediatrics. 2026, 44(7):  665-672.  doi:10.12372/jcp.2026.25e0866
    Abstract ( )   HTML ( )   PDF (1529KB) ( )  
    Figures and Tables | References | Related Articles | Metrics

    Congenital heart disease (CHD) is a major birth defect threatening children's health, and early screening is crucial for reducing mortality. Cardiac auscultation is an important method for identifying CHD, yet its screening efficacy is susceptible to clinicians' practical experience. In recent years, artificial intelligence (AI) technologies represented by deep learning have achieved high accuracy in heart murmurs detection and disease diagnosis. They can help improve clinicians' diagnostic capabilities and facilitate the early detection and diagnosis of CHD. Current AI models still face challenges in terms of data quality, algorithm performance and clinical validation. Nevertheless, they possess great application potential and will remain an essential part of the screening system for CHD. This paper reviews the current development of AI-assisted heart sound recognition for CHD, summarizes the progress of relevant algorithms and clinical applications, and concludes the existing challenges. It aims to promote the transformation of this technology from experimental research to clinical practice.