• 2025 Volume 27 Issue 12  Published: 15 December 2025
      

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      STANDARD·PROTOCOL·GUIDELINE
    • STANDARD·PROTOCOL·GUIDELINE
      Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association; Editorial Board of ChineseJournal of Contemporary Pediatrics
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      To better assist primary healthcare providers in recognizing the importance of postnatal bilirubin monitoring, and in developing the ability to promptly identify neonatal jaundice that requires intervention and to provide appropriate evaluation and management, thereby reducing severe neonatal hyperbilirubinemia requiring exchange transfusion and bilirubin encephalopathy while avoiding overtreatment, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association and the Editorial Board of Chinese Journal of Contemporary Pediatrics organized experts who, based on the national expert consensus and guidelines on neonatal hyperbilirubinemia, integrated the latest clinical research evidence on neonatal jaundice and, after thorough discussion, formulated the "Guidelines for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal jaundice (2025)". The guideline addresses 10 common clinical questions on neonatal jaundice for primary healthcare providers and provides 16 recommendations.

    • STANDARD·PROTOCOL·GUIDELINE
      Hunan Neonatal Medical Quality Control Center, Perinatal Committee of Hunan Medical Association
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      With continuous advancements in neonatal care in China, the survival rate of extremely preterm infants has markedly increased in recent years. However, the proportion of voluntary withdrawal of treatment for extremely preterm infants remains relatively high. To further improve the overall treatment success rate for extremely preterm infants in Hunan Province, the Hunan Neonatal Medical Quality Control Center, in collaboration with the Perinatal Committee of the Hunan Medical Association, organized experts to develop recommendations on antenatal counseling for extremely preterm infants. These recommendations aim to standardize antenatal counseling procedures, enhance the scientific rigor and consistency of clinical decision-making, and improve survival outcomes.

    • SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
    • SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
      Xiang-Hong LYU, Jian DONG
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      Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder most commonly caused by variants in COL1A1 and COL1A2, which encode type I collagen. It is characterized by increased bone fragility, recurrent fractures, and skeletal deformities that adversely affect quality of life. With advances in genetic testing and molecular pathophysiology, diagnosis has evolved from traditional imaging-based assessment to comprehensive evaluation guided by genotype-phenotype correlations. Early diagnosis and standardized management are crucial for improving prognosis; however, the rarity of OI and rapid technological progress make it challenging to keep pace with evolving diagnostic and therapeutic strategies. This article discusses the genetic and pathophysiological mechanisms, recent advances in diagnosis and treatment, and key points in the management of OI, aiming to provide up-to-date reference information for OI care and clear, actionable guidance for clinicians.

    • HOW I TREAT
    • HOW I TREAT
      Run-Mei ZOU, Cheng WANG
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      Vasovagal syncope (VVS) is the most common cause of neurally mediated syncope in children. Recurrent syncope severely affects physical and mental health and may lead to unintentional injury. Based on international and domestic guidelines and clinical practice experience, standardized recommendations for the diagnosis and treatment of pediatric VVS are proposed. Management of VVS should be individualized, and non-pharmacological interventions, including lifestyle modifications, are the cornerstone for both classic and malignant VVS. Pharmacological therapy is recommended for children with VVS who have recurrent syncopal episodes, are at risk of trauma, or respond poorly to non-pharmacological interventions. For children in whom the head-up tilt test induces asystole, pacemaker implantation is not recommended as first-line therapy. In malignant VVS with recurrent syncope despite conventional treatment, pacemaker implantation may be considered after specialist evaluation. Data on cardioneuroablation in children are limited, and long-term follow-up is required.

    • CLINICAL RESEARCH
    • CLINICAL RESEARCH
      Wen LI, Xue-Fei ZHANG, Xiao-Ri HE, Tao WANG, Jing-Tao HU, Wen LI, Qing-Yi DONG, Xiao-Yun GONG, Yong-Hui YANG, Ping-Yang CHEN
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      Objective To develop dynamic prediction models based on multiple postnatal time points to support early diagnosis and individualized intervention for bronchopulmonary dysplasia (BPD) in preterm infants with gestational age < 32 weeks. Methods Clinical data of 472 preterm infants with gestational age <32 weeks admitted to the Second Xiangya Hospital of Central South University between January 2016 and November 2020 were retrospectively analyzed. Multivariable logistic regression was applied to develop five independent prediction models at postnatal days 1, 7, 14, 21, and 28. The performance of the models was assessed using the area under the receiver operating characteristic curve (AUC) and the Hosmer-Lemeshow test. Results Baseline characteristics such as gestational age and birth weight differed significantly between the BPD group (n=147) and the non-BPD group (n=325) (P<0.05). Predictors of BPD evolved across time points: on day 1, key predictors included gestational age, birth weight, Score for Neonatal Acute Physiology II (SNAP-II), invasive mechanical ventilation, and fraction of inspired oxygen >30%; by day 7, additional variables emerged, including fasting duration >2 days, mean feeding advancement rate <8.5 mL/(kg·d), neonatal respiratory distress syndrome, apnea of prematurity, and positive sputum culture; from day 14 onward, nutrition- and treatment-related indicators were incorporated additionally. The models demonstrated good discrimination at postnatal days 1, 7, 14, 21, and 28, with AUCs of 0.917, 0.927, 0.939, 0.944, and 0.968, respectively, and good calibration (Hosmer-Lemeshow P>0.05). Internal validation showed AUCs ranging from 0.899 to 0.958, indicating robust performance. Conclusions Dynamic postnatal prediction models incorporating indicators spanning perinatal factors, respiratory support, nutritional management, and therapeutic interventions demonstrate high predictive performance and facilitate dynamic risk assessment for BPD in preterm infants with gestational age < 32 weeks.

    • CLINICAL RESEARCH
      Yan-Yan WU, Qi-Qi BU, Xin WANG, Tao LI, Hong-Yan WU, Le KANG, Ying-Yuan WANG, Da-Peng LIU, Jing GUO, Cai-Jun WANG, Wen-Qing KANG
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      Objective To analyze the serum metabolomic changes of preterm infants with bronchopulmonary dysplasia (BPD) at postmenstrual age (PMA) 36 weeks, screen potential biomarkers and associated metabolic pathways, and assess their relationship with short-term respiratory outcomes. Methods A retrospective case-control study was conducted. Infants with gestational age 28-32 weeks admitted to the Children's Hospital Affiliated to Zhengzhou University from January to December 2024 were included. Twenty infants with BPD and 20 gestational age-, birth weight-, and sex-matched non-BPD preterm infants were included. Serum collected at PMA 36 weeks was subjected to untargeted metabolomics analysis, and associations with short-term respiratory outcomes were analyzed. Results Thirteen potential biomarkers distinguishing BPD were identified (area under the curve >0.75, P<0.05). Eight biomarkers—including terephthalic acid, phosphatidylinositol, fumarate, and lysophosphatidic acid—were significantly upregulated (FC≥1.5), while five biomarkers, such as 7α-hydroxy-3-oxo-4-cholestenoate ester and phosphatidylcholine, were significantly downregulated (FC≤1/1.5). Pathway analysis indicated five pathways associated with BPD, including glycerophospholipid metabolism and phenylalanine metabolism. Dysregulation of glycerophospholipid and bile acid metabolism may affect adverse short-term respiratory outcomes in infants with BPD. Conclusions The 13 significantly different metabolites may serve as biomarkers for the diagnosis of BPD. Glycerophospholipid metabolism is associated with the occurrence of BPD and with adverse short-term respiratory outcomes.

    • CLINICAL RESEARCH
      Di WEN, Yang LIU, Ping-Ren CHEN, Tao FAN, Ke HE
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      Objective To evaluate the efficacy and safety of ibuprofen in treating hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants of different postnatal ages at treatment initiation. Methods Clinical records of infants with gestational age <37 weeks who received ibuprofen for hsPDA in the Department of Neonatology, Fourth Hospital of Shijiazhuang, from January 2020 to December 2023 were retrospectively reviewed. One hundred eligible infants were divided by the postnatal age at the first ibuprofen administration into three groups: group A (≤4 days), group B (5-7 days), and group C (>7 days). Clinical efficacy and safety indicators were compared among groups. Results After treatment, cure rates were 92% in group A, 72% in group B, and 60% in group C, and effective rates were 8%, 25%, and 33%, respectively. Differences in clinical efficacy among the three groups were statistically significant (P<0.05). No significant differences were observed among groups in the incidence of pulmonary hemorrhage, gastrointestinal bleeding, cholestasis, bronchopulmonary dysplasia, necrotizing enterocolitis, intracranial hemorrhage, or acute kidney injury (P>0.05). Conclusions For hsPDA requiring pharmacologic therapy, earlier oral ibuprofen administration yields a higher ductal closure rate and does not increase the incidence of adverse events.

    • CLINICAL RESEARCH
      Jin-Bo LI, Ya XIAO, Shu-Qin JIANG, Xiang-Yang LUO, Hong-Ru ZHANG, Jun SUN, Wen-Hui SHI, Ying YANG, Wei WANG
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      Objective To explore the relationship between insulin resistance and idiopathic central precocious puberty (ICPP) in girls and the diagnostic value of insulin resistance. Methods Clinical data of 245 girls aged 4 to 7.5 years with low luteinizing hormone (LH) levels (0.2-0.83 IU/L), normal body weight (body mass index standard deviation score between -2 and +2), and early breast development who visited the Department of Pediatric Endocrinology, Henan Provincial Maternal and Child Health Hospital from January 2022 to March 2025 were retrospectively analyzed. According to the Expert Consensus on the Diagnosis and Treatment of Central Precocious Puberty (2022), patients were assigned to an ICPP group (n=123) or a control group (n=122). Correlations between the homeostasis model assessment of insulin resistance (HOMA-IR) and selected indices were assessed. Multivariable logistic regression was used to evaluate the association between HOMA-IR and ICPP, and the diagnostic performance of various indices for ICPP was evaluated. Results HOMA-IR was higher in the ICPP group than in the control group (P<0.001) and was positively correlated with LH peak (rs=0.467, P<0.05) and the LH peak/FSH peak ratio (rs=0.444, P<0.05). The multivariable logistic regression model including age, BMI, and basal LH showed that HOMA-IR was closely associated with ICPP (OR=2.756, 95%CI: 1.940-3.913). Receiver operating characteristic curve analysis showed that the areas under the curve for basal LH, HOMA-IR, and their combination in diagnosing ICPP were 0.735, 0.735, and 0.805, respectively (P<0.05), and the combined model had a greater area under the curve than either basal LH or HOMA-IR alone (both P<0.05). Conclusions HOMA-IR is closely associated with ICPP in girls with low LH and normal body weight, and combining HOMA-IR with basal LH improves early identification and diagnostic efficiency in this population.

    • CLINICAL RESEARCH
      Lei CHEN, Li-Li ZHAO, Xiao-Chen WU, Hong-Yuan LI, Wei-Wei ZHANG
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      Objective To explore the relationship between frontal alpha asymmetry (FAA) assessed by electroencephalogram (EEG) and emotion dysregulation (ED) in children with attention deficit hyperactivity disorder (ADHD). Methods Children with ADHD admitted to Fuyang Women and Children's Hospital from September 2021 to December 2024 were prospectively enrolled (n=104). Based on the Achenbach Child Behavior Checklist (CBCL), participants were classified into an ED group (sum of three subscales <180; n=41) and a non-ED group (sum ≥180; n=63). Clinical data were collected, and the Chinese ADHD SNAP-IV parent version and the Weiss Functional Impairment Rating Scale-Parent Report were used. FAA was measured by EEG. Correlations between FAA in different regions and CBCL score were analyzed, and the predictive value of FAA for ED was evaluated with multivariable logistic regression and receiver operating characteristic curves. Results Compared with the non-ED group, the ED group had a higher proportion of the predominantly inattentive ADHD subtype, higher SNAP-IV total score, higher Weiss Functional Impairment Rating Scale-Parent Report total score, and higher FP1/FP2-FAA and C3/C4-FAA (P<0.05). FP1/FP2-FAA and C3/C4-FAA were negatively correlated with CBCL score (P<0.05). The multivariable logistic regression analysis showed that FP1/FP2-FAA and C3/C4-FAA were closely associated with ED in children with ADHD (P<0.05). The areas under the curve for predicting ED using FP1/FP2-FAA, C3/C4-FAA, and their combination were 0.827, 0.685, and 0.917, respectively (P<0.05), and the combined prediction had a higher area under the curve than either single marker (P<0.05). The FP1/FP2 FAA value in hyperactive-impulsive ADHD was lower than in combined-type ADHD and predominantly inattentive ADHD (P<0.05). Conclusions FP1/FP2-FAA and C3/C4-FAA are reliable neural markers of emotion dysregulation in children with ADHD, and their combination shows superior predictive performance. ADHD subtypes show distinct patterns of FAA-functional impairment associations.

    • CLINICAL RESEARCH
      Ting-Ting YUAN, Bing-Bing ZHU, Yan LI, Rui-Feng ZHANG, Shan QIU, Juan LYU, Su-Qin ZHOU
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      Objective To explore the effect of rituximab on cellular immunity and cytokines in children with new-onset steroid-sensitive nephrotic syndrome (SSNS). Methods Clinical data of 60 children with new-onset SSNS treated at Xuzhou Children's Hospital from December 2021 to March 2023 were retrospectively analyzed. Children were allocated according to rituximab use into a control group (no rituximab) and an observation group (rituximab). The relapse rate, T-lymphocyte subsets and cytokines before and after treatment, and the incidence of adverse reactions were compared between groups. Results The relapse rate was lower in the observation group than in the control group (27% vs 73%, P<0.05). After treatment, CD3+ and CD4+ T-lymphocyte counts, the CD4+/CD8+ ratio, and serum interleukin-2 increased in the observation group and were higher than in the control group (P<0.05). Interleukin-6 and tumor necrosis factor-α levels decreased after treatment in the observation group and were lower than in the control group (P<0.05). After treatment, CD8+ T-lymphocyte counts decreased, interferon-γ increased, and interleukin-10 decreased in both groups, with no significant differences between the two groups (P>0.05). The incidence of adverse reactions did not differ significantly between the two groups (P>0.05). Conclusions Rituximab can reduce the relapse rate in children with new-onset nephrotic syndrome and shows good safety. Its therapeutic effect is achieved by regulating the number and function of T cells and by modulating the anti-inflammatory effects of cytokines.

    • CLINICAL RESEARCH
      Mayire MAIHEMUTI, Yipaguli SIMIJIANG
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      Objective To identify predictors of sepsis-induced coagulopathy (SIC) in children and to establish a prediction model. Methods Clinical data were retrospectively collected from children with sepsis treated in the pediatric intensive care unit of Xinjiang Hospital of Beijing Children's Hospital between July 2021 and December 2023. Patients were classified into the SIC group (n=64) and the non-SIC group (n=61) according to whether SIC occurred. Multivariable logistic regression was employed to identify independent predictors of SIC. A prediction model was developed based on these factors. The predictive performance and clinical utility of the model were evaluated using the area under the receiver operating characteristic curve, calibration curve, and decision curve analysis. Results The multivariable logistic regression analysis showed that procalcitonin, Pediatric Sequential Organ Failure Assessment (pSOFA) score, and mean platelet volume were independent predictors of SIC in children with sepsis (P<0.05). The model developed from these three predictors yielded an area under the curve of 0.903 (95%CI: 0.852-0.953; P<0.001), with sensitivity and specificity of 0.922 and 0.738, respectively. The calibration curve analysis indicated good agreement between predicted and observed outcomes. The decision curve analysis showed favorable clinical benefit of the prediction model. Conclusions Procalcitonin, pSOFA score, and mean platelet volume are predictors of SIC among children with sepsis; the prediction model based on these three predictors shows high performance and has good clinical applicability.

    • CLINICAL RESEARCH
      Rui-Xue MA, Wen-Hai LUO, Yi-Lin DAI, Gui-Xian LI, Fei WANG, Ou JIANG, Yin-Hong ZHANG, Yun-Fen TIAN
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      Objective To summarize the clinical and genetic characteristics of children with sodium taurocholate co-transporting polypeptide (NTCP) deficiency. Methods Clinical data of children with NTCP deficiency diagnosed and treated at the First People's Hospital of Yunnan Province from July 2022 to March 2025 were retrospectively analyzed. Results A total of 14 children were included (6 males, 8 females), all with normal growth and development. Reasons for initial consultation included elevated serum bile acids in 7 cases, jaundice in 4 cases, cholestatic hepatitis in 1 case, and one case each of pneumonia and cow's milk protein allergy. At the first visit, all patients had elevated serum total bile acids beyond the normal range, with a mean of 152.5 μmol/L. Elevated alanine aminotransferase was observed in 1 case, elevated aspartate aminotransferase in 2 cases, and elevated total bilirubin in 10 cases. Genetic sequencing revealed that all children carried the homozygous SLC10A1 variant c.800C>T (p.Ser267Phe), classified as likely pathogenic. Conclusions NTCP deficiency often lacks obvious clinical symptoms and signs. Some children present with transient hyperbilirubinemia, cholestasis, or other liver function abnormalities. Persistent isolated elevation of serum bile acids warrants suspicion for this disease. Biallelic pathogenic variants in SLC10A1 constitute the basis for definitive diagnosis. There is no specific treatment for this disease, and management is mainly symptomatic.

    • CLINICAL RESEARCH
      Mei-Ling TANG, Wei-Ling ZHANG, Yi-Zhuo WANG, Yi ZHANG
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      Objective To study the clinical characteristics, imaging findings, pathological features, treatment methods, and prognosis of nasopharyngeal carcinoma in children. Methods The clinical data of 6 children (<18 years) with nasopharyngeal carcinoma admitted to the Department of Pediatrics, Beijing Tongren Hospital from March 2021 to February 2025 were retrospectively reviewed, and outcomes were followed up. Results All 6 patients were male. Age at onset ranged from 11 to 15 years, with a median of 12.5 years. The interval from onset to diagnosis was 1-6 months. The main clinical symptoms were cervical mass (4 cases, 67%) and headache (3 cases, 50%); some patients also had nasal congestion and rhinorrhea, epistaxis, or limited mouth opening. TNM staging was stage III in 4 cases and stage IVa in 2 cases. All patients had non-keratinizing undifferentiated nasopharyngeal carcinoma on pathology. Treatments included radiotherapy, chemotherapy, surgery, targeted therapy, and immunotherapy. By July 1, 2025, after comprehensive treatment, 5 patients (83%) achieved complete remission, and 1 patient (17%) experienced recurrence and progression and died. Conclusions Comprehensive treatment based on combined radiotherapy and chemotherapy is the mainstay for childhood nasopharyngeal carcinoma, overall prognosis is favorable, and long-term follow-up is required. Molecular targeted therapy and immunotherapy are expected to improve the prognosis of advanced nasopharyngeal carcinoma and require further research for validation.

    • EXPERIMENTAL RESEARCH
    • EXPERIMENTAL RESEARCH
      Yu-Hang BEI, Kang YU, Xia WANG
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      Objective To investigate how miR-30b regulates mitophagy independently of the PINK1/Parkin pathway by targeting ubiquitin specific peptidase 14 (USP14) in neuronal oxygen-glucose deprivation/reoxygenation (OGD/R) injury, and to provide new insights for the treatment of neonatal hypoxic-ischemic encephalopathy. Methods Fetal rat cortical neurons were isolated and an OGD/R model was established. Experiments were conducted in two parts. In part 1, cells were randomized into control, OGD/R, OGD/R+microRNA (miR)-negative control (NC), OGD/R+miR-30b mimic, OGD/R+miR-30b mimic+oe-NC, and OGD/R+miR-30b mimic+oe-USP14 groups. In part 2, cells were randomized into control, OGD/R, OGD/R+miR-NC, OGD/R+miR-30b mimic, OGD/R+miR-30b mimic+si-NC, OGD/R+miR-30b mimic+si-Parkin, and OGD/R+miR-30b mimic+si-Drp1 (dynamin-related protein 1) groups. miR-30b and USP14 mRNA levels were measured by real-time quantitative PCR. Cell viability was assessed using the CCK-8 assay and cell death by propidium iodide staining. Protein levels of USP14, microtubule-associated protein 1 light chain 3 (LC3) Ⅱ/LC3 Ⅰ, translocase of outer mitochondrial membrane 20 (TOMM20), PINK1, Parkin, and Drp1 were determined by Western blot. MitoTracker Green staining was used to evaluate mitochondrial morphology, and mitochondrial reactive oxygen species (ROS) were measured using the MitoSOX Red probe. AGO2-RNA immunoprecipitation and dual-luciferase reporter assays were performed to validate the targeting relationship between miR-30b and USP14. Results Compared with the OGD/R group, the OGD/R+miR-30b mimic group showed higher cell viability, miR-30b expression, LC3 Ⅱ/LC3 Ⅰ ratio, and Drp1 protein expression (P<0.05), and lower PI positivity, mitochondrial ROS, USP14 mRNA and protein expression, TOMM20 protein expression, mitochondrial fragmentation index, and mitochondrial volume (P<0.05). PINK1 and Parkin protein levels did not differ significantly between these two groups (P>0.05). Compared with the OGD/R+miR-30b mimic+oe-NC group, the OGD/R+miR-30b mimic+oe-USP14 group exhibited reduced cell viability, miR-30b expression, and LC3 Ⅱ/LC3 Ⅰ ratio (P<0.05), and increased PI positivity, mitochondrial ROS, USP14 mRNA and protein expression, TOMM20 protein expression, mitochondrial fragmentation index, and mitochondrial volume (P<0.05). miR-30b was confirmed to target USP14. In addition, no significant differences were observed between the OGD/R+miR-30b mimic+si-NC and OGD/R+miR-30b mimic+si-Parkin groups in LC3 Ⅱ/LC3 Ⅰ ratio, fragmentation index, or average mitochondrial volume (P>0.05). Compared with the OGD/R+miR-30b mimic+si-NC group, the OGD/R+miR-30b mimic+si-Drp1 group showed a decreased LC3 Ⅱ/LC3 Ⅰ ratio and increased fragmentation index and average mitochondrial volume (P<0.05). Conclusions miR-30b regulates mitophagy by targeting USP14 independently of the PINK1/Parkin pathway, and confers protection against neuronal OGD/R injury.

    • CLINICAL EXPERIENCE
    • CLINICAL EXPERIENCE
      Yan HUANG, Mei-Ying ZHU, Jun-Feng LI, Qian ZHANG, Chuan-Lin DAI, Zong-Tai FENG
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      Objective To explore the early clinical manifestations, random cortisol levels, and management of late-onset circulatory collapse (LCC) in preterm infants. Methods Preterm infants with LCC from October to December 2023 at the Affiliated Suzhou Hospital of Nanjing Medical University were included. Maternal perinatal factors and infants' early clinical symptoms, signs, random serum cortisol levels, treatment, and outcomes were retrospectively analyzed. Results Seven preterm infants with LCC were included, with gestational ages of 25 weeks + 2 days to 29 weeks and birth weights of 800-1 150 g. At 3 weeks of age, abnormal weight gain [gain rate: 21-28.5 g/(kg·d)], generalized edema, low serum sodium (129.5-135.2 mmol/L), and decreased random serum cortisol concentrations (13.6-44.6 nmol/L) were observed. After 1-2 weeks of hydrocortisone treatment, edema subsided and serum sodium increased. Conclusions In clinically stable preterm infants, early manifestations of LCC include abnormal weight gain, generalized edema, recurrent hyponatremia, and decreased random serum cortisol concentrations. Hydrocortisone treatment effectively improves symptoms.

    • CASE REPORT
    • CASE REPORT
      Qian YANG, Zou PAN, Chen CHEN, Fei YIN, Jing PENG
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      A 3-year-10-month-old boy was admitted with a history of intermittent seizures for over one year. Global developmental delay, facial dysmorphism, and axial hypotonia were observed, with multiple seizure types including epileptic spasms and myoclonic seizures. Severe developmental delay was indicated by the Gesell Developmental Schedule, and electroencephalography showed generalized spikes and spike-and-slow-wave discharges. A de novo heterozygous missense variant in ATAD3A, c.1582C>T (p.Arg528Trp), was identified and classified as pathogenic, and a diagnosis of Harel-Yoon syndrome was made. After administration of antiseizure medications, seizures were controlled and motor development improved compared with baseline. To our knowledge, this seizure phenotype is the first report in the Chinese literature of Harel-Yoon syndrome due to a heterozygous ATAD3A variant. This case expands the clinical phenotypic spectrum of ATAD3A and provides a reference for diagnosis and management.

    • CASE REPORT
      Xin-Yi ZHOU, Jian JIANG, Ling-Zhen WANG, Jun-Hong GUO
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      A 3-month-old female infant was admitted for incessant crying for 3 days. Examination revealed a rapidly growing massive retroperitoneal mass that was difficult to resect. Needle biopsy confirmed infantile fibrosarcoma. Initial chemotherapy with the VAC regimen (vincristine, actinomycin D, and cyclophosphamide) was administered, but the response was poor. The common fusion in infantile fibrosarcoma is ETV6-NTRK3, and next-generation sequencing detected an RBPMS-NTRK3 gene fusion in this patient. To our knowledge, this is the first reported case of infantile fibrosarcoma with RBPMS-NTRK3 fusion in China. Treatment with larotrectinib resulted in marked tumor shrinkage.

    • REVIEW
    • REVIEW
      Jie-Jie DING, Dong-Yue DU, Ping LI
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      Children with autism spectrum disorder (ASD) frequently have comorbid gastrointestinal problems, with constipation being the most prevalent. The onset and severity of constipation are closely related to the core symptoms of ASD, and improving constipation can alleviate these core symptoms. However, the mechanisms underlying comorbid constipation in ASD remain unclear. Multidisciplinary assessment is the foundation of clinical management for comorbid constipation in ASD. Targeted pharmacological therapy, dietary interventions, gut microbiota modulation, and complementary and alternative medicine interventions can be chosen for personalized treatment. This review summarizes the mechanisms, assessment, and clinical management of comorbid constipation in ASD and aims to provide a reference for comprehensive interventions in ASD.

    • REVIEW
      Ting-Ting PAN, Hong-Lan YANG, Shi-Hai ZHOU, Hui SUN
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      The incidence of pediatric inflammatory bowel disease (IBD) is rising, with an especially high proportion of early-onset cases in Asia. Conventional treatments such as glucocorticoids and immunosuppressants have limited efficacy and notable adverse effects, whereas biologic therapies substantially improve remission rates and quality of life. Therapeutic drug monitoring (TDM), by assessing trough concentrations and anti-drug antibodies, enables individualized dose optimization, reduces immunogenicity, and prolongs treatment persistence. However, challenges remain, including insufficient standardization and the lack of pediatric-specific concentration thresholds. This review summarizes recent advances in biologics and TDM in pediatric IBD to inform precision treatment.