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    STANDARD·PROTOCOL·GUIDELINE
  • ● STANDARD·PROTOCOL·GUIDELINE
    National Health Commission of the People's Republic of China
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    On September 22, 2026, the National Health Commission released the "Guideline for intervention and rehabilitation in children with autism spectrum disorder (2026 edition)". The guideline applies to intervention and rehabilitation services for children with autism spectrum disorder (ASD) under 18 years of age. It establishes eight basic principles, namely early intervention, individualized intervention, comprehensive intervention, evidence-based practice, long-term and high-intensity intervention, primary-level care as the mainstay, family participation, and social inclusion and support, and specifies that the optimal treatment window is before 6 years of age and that intervention should be provided for at least 20 hours per week. It covers health education, intervention for developmental deficits, intervention for challenging behaviors, family intervention, digital and intelligent intervention and rehabilitation, and follow-up.

  • CLINICAL RESEARCH
  • ● CLINICAL RESEARCH
    Yu-Hao HUANG, Ke-Duo HUANG, Liu-Fang ZHAN, Li-Qun LIU, Ling-Juan LIU, Jie XIONG, Kai-Ju LUO, Fang YANG, Xiao-Xiang GONG, Xue-Mei LUO
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    Objective To investigate the clinical value of the latency of the P600-like event-related potential component during a spatial N-back task as a neurophysiological indicator for differentiating children with attention deficit hyperactivity disorder (ADHD) alone from those with ADHD comorbid with developmental dyslexia (DD). Methods In this prospective study, 66 ADHD children aged 6-10 years were enrolled from the Department of Child Health Care, Second Xiangya Hospital of Central South University between June and September 2025, including 28 with ADHD alone and 38 with ADHD+DD. An additional 20 healthy children were included solely as a visual reference for electroencephalogram (EEG) topographic mapping. Behavioral symptoms were assessed using the SNAP-IV, the Childhood Executive Functioning Inventory, the Conners Child Behavior Scale, and the Dyslexia Checklist for Chinese Children. EEG was recorded during a spatial N-back task, and the P600-like component was extracted from Fz, Cz, and Pz electrodes. A linear mixed model was applied to analyze the interactions among group, electrode site, and task load. Receiver operating characteristic (ROC) curves were used to evaluate discriminative performance, and 5-fold cross-validation was conducted to reduce overfitting risk. Results Under the 1-back condition, the latency of the P600-like component at Pz was significantly longer in the ADHD+DD group than in the ADHD-alone group (P<0.001). The area under the curve (AUC) for the P600-like component latency at Pz in distinguishing ADHD alone from ADHD+DD was 0.804 (95%CI: 0.697-0.910). Using a cut-off value of 688 ms, sensitivity was 63.2% and specificity 96.4%. Hierarchical logistic regression analysis showed that model 4 (P600-like component latency + N1 reaction time + age) achieved an AUC of 0.804, comparable to that of model 2 (model 1 + P600-like component peak value + P600-like component average amplitude; AUC=0.805), with superior cross-validation stability. Conclusions The latency of the P600-like component at the Pz electrode during an N-back task may serve as a neurophysiological indicator to assist in differentiating whether children with ADHD have comorbid DD. A parsimonious model incorporating this indicator has discriminative performance comparable to the full-indicator model, with superior cross-validation stability.

  • ● CLINICAL RESEARCH
    Jia-Xue LIU, Xiao-Wu LI, Qin ZHOU, Li SONG, Zeng-He YUE, Yu-Xin QIAN, Xiao-Yan KE
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    Objective To examine the moderating effect of smartphone addiction on the relationship between social skills and anxiety among left-behind secondary school students. Methods A cross-sectional questionnaire survey was conducted among 1 522 students from six secondary schools in Jiangsu Province between November 2023 and April 2024. According to left-behind status, students were classified into a left-behind group (n=550, 36.14%) and a non-left-behind group (n=972, 63.86%). Social skills, anxiety, and smartphone addiction were assessed using the Chinese version of the Social Skills Improvement System Rating Scales (SSIS-RS-C), the Screen for Child Anxiety Related Emotional Disorders (SCARED), and the Smartphone Addiction Scale-Short Version (SAS-SV), respectively, and differences between the two groups were compared. Latent profile analysis was used to identify latent profiles of social skills among left-behind students. Hierarchical linear regression and the Johnson-Neyman method were used to examine the moderating effect of smartphone addiction on the relationship between social skills and anxiety. Results Compared with the non-left-behind group, the left-behind group had higher scores for smartphone addiction and anxiety and lower scores for social skills (P<0.05). The total SSIS-RS-C score negatively predicted the total SCARED score (β=-0.305, P<0.05), whereas the total SAS-SV score positively predicted the total SCARED score (β=0.189, P<0.05). The interaction between the total SSIS-RS-C score and the total SAS-SV score negatively predicted the total SCARED score (β=-0.138, P<0.05). Latent profile analysis identified three profiles of social skills among left-behind students: good, average, and deficient. In the average and deficient profiles, when the total SAS-SV score exceeded 24.37 and 31.27, respectively, the total SSIS-RS-C score was negatively associated with the total SCARED score (B=-0.027 and -0.030, respectively; both P<0.05), and this negative association strengthened as the total SAS-SV score increased. Conclusions Smartphone addiction moderates the relationship between social skills and anxiety among left-behind secondary school students; anxiety is more pronounced in those with poorer social skills and higher levels of smartphone addiction.

  • ● CLINICAL RESEARCH
    Yu-Meng WU, Xin CHEN, Ru-Na LI, Si-Ying SUN, Rui RAO, Lu-Ling YANG, Xiao-Hong JIANG, Xue-Tao XU, Hui WANG, Han-Qing WANG, Yin-Long ZHANG, Mei LIU, Ya-Li ZHANG, Qian GUO, Jin-Hong LI, De-Xin LI, Bo WANG, Hou-Jiang LUO, Jun YANG, Min FENG, Shi-Di XIE, Hong XU, Qiao-Qiao ZOU, Dan SUN, Lei SHI, Hong WAN, Zi-Ang WANG
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    Objective To evaluate the efficacy of noninvasive ventilation combined with vibrating mesh nebulization of pulmonary surfactant (PS) in preterm infants with respiratory distress syndrome (RDS) and to identify predictors of treatment failure. Methods Preterm infants with RDS (gestational age >28 weeks, birth weight >1 000 g) admitted to neonatal intensive care units at 12 hospitals between June 2023 and November 2024 were prospectively enrolled. All infants initially received nasal continuous positive airway pressure and were treated with PS administered via vibrating mesh nebulization. Infants were categorized into a success group or a failure group according to whether escalation to invasive mechanical ventilation via endotracheal intubation was required. Multivariable logistic regression was used to identify predictors of failure of vibrating mesh nebulized PS treatment. A prediction model was constructed, and its performance was assessed using receiver operating characteristic (ROC) curves and the area under the curve (AUC). Results A total of 126 preterm infants with RDS were included, with 107 (84.9%) in the success group and 19 (15.1%) in the failure group. Multivariable logistic regression analysis showed that nonstandard antenatal glucocorticoid use, a lower 1-minute Apgar score, chest radiograph showing RDS grade ≥III, and a lower ratio of partial pressure of arterial oxygen (PaO2) to fraction of inspired oxygen (FiO2) (PaO2/FiO2) at 30 minutes after treatment were independent predictors of treatment failure (P<0.05). The prediction model for treatment failure based on these four factors yielded an AUC of 0.857 (95%CI: 0.789-0.943), with a sensitivity of 84.21% and a specificity of 74.53%. The cutoff values for the 1-minute Apgar score and PaO2/FiO2 at 30 minutes after treatment were <8 and <220 mmHg, respectively. Conclusions Noninvasive ventilation combined with vibrating mesh nebulization of PS achieves a high success rate in preterm infants with RDS who had a gestational age >28 weeks and a birth weight >1 000 g. Nonstandard antenatal glucocorticoid use, a 1-minute Apgar score <8, chest radiograph showing RDS grade ≥III, and PaO2/FiO2 <220 mmHg at 30 minutes after treatment are independent predictors of treatment failure.

  • ● CLINICAL RESEARCH
    Wan-Jun PEI, Yan-Hua ZHANG, Shu-Jin LI, Bian-Sheng ZHOU, Ya-Qin CAO, Bao-Feng WANG, Qian LIU, Zhan-Sheng WANG, Hong-Xiang GUO, Jian-Wei SUN, Li LI, Min FENG, Xiao-Bing WANG, Ping ZHU, Cheng-He TANG, Le KANG, Shi-Chang ZHANG, Xiao-Yan GUO, Lei SHI, Feng-Lin YAN, Wei-Ling MENG, Shu-Ping CHEN, Fa-Lin XU, Hui-Fang DONG
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    Objective To construct a risk prediction model for in-hospital mortality in neonates with severe asphyxia. Methods A total of 836 neonates with severe asphyxia admitted to 20 tertiary hospitals in Henan Province between January 2022 and December 2025 were retrospectively enrolled and divided into a death group (n=267) and a survival group (n=569) according to outcome. Birth characteristics, resuscitation measures, and early complications were analyzed. Multivariable logistic regression was used to identify risk factors, and a nomogram prediction model was developed. Receiver operating characteristic curves, calibration curves, and decision curve analysis were used to evaluate the model's discrimination, calibration accuracy, and clinical applicability. Results Multivariable logistic regression showed that high lactate level, low birth weight, a 5-minute Apgar score of ≤5, use of epinephrine, volume expansion during resuscitation, persistent pulmonary hypertension of the newborn, pulmonary hemorrhage, shock, and grade III/IV intraventricular hemorrhage were independent risk factors for in-hospital mortality in neonates with severe asphyxia (P<0.05). The nomogram based on these risk factors yielded an area under the curve of 0.795 (95%CI: 0.762-0.827). Calibration and decision curve analyses indicated that the model had high accuracy and good clinical applicability. Conclusions In-hospital mortality among severely asphyxiated neonates is closely associated with birth weight, resuscitation modalities, and early complications such as pulmonary hemorrhage and shock. The risk model constructed based on these factors shows good predictive value.

  • ● CLINICAL RESEARCH
    Yun-He WANG, Yi YAO, Yun-Qian CHI, Zi-Han ZHANG, Yi-Yang LIU, Feng-Xin YI, Peng-Yuan WANG, Wei HAO
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    Objective To investigate the effects of post-discharge fortified human milk feeding on growth, common complications, and neuropsychological development in preterm infants with moderate-to-high nutritional risk. Methods Clinical data were retrospectively collected from 320 preterm infants with moderate-to-high nutritional risk who were discharged from the Department of Neonatology, Provincial Hospital Affiliated to Shandong First Medical University between January 2021 and December 2023 and completed a 6-month follow-up. Infants were classified into four groups by nutritional risk level and feeding method: moderate-risk fortified human milk, moderate-risk formula, high-risk fortified human milk, and high-risk formula. Comparisons were conducted between fortified human milk and formula within the same risk level, and between moderate- and high-risk groups within the same feeding method. Results Within the same feeding method, gestational age at birth and birth weight differed significantly between moderate- and high-risk infants (P<0.001). Within the same nutritional risk level, no significant differences were found between fortified human milk and formula groups in gestational age at birth and birth weight (P>0.05). In the fortified human milk groups, corrected gestational age at discharge differed significantly between moderate- and high-risk infants (P<0.05). No significant differences were noted among the four groups in discharge weight, length, or head circumference (P>0.05). Analysis of covariance, adjusting for discharge weight, length, head circumference, and corrected gestational age at discharge, showed no significant differences among the four groups during the 6-month follow-up in growth velocities of weight, length, or head circumference, nor in hemoglobin, 25-hydroxyvitamin D, or alkaline phosphatase measured at 1, 3, and 5 months (P>0.05). Multivariable logistic regression indicated that fortified human milk feeding did not increase the risk of infection (OR=0.66, 95%CI: 0.40-1.08, P=0.097) or feeding intolerance (OR=0.70, 95%CI: 0.45-1.08, P=0.107). At 6 months' corrected age, mental, motor, and behavioral scores did not differ significantly among groups (P>0.05). Conclusions In preterm infants at moderate-to-high nutritional risk, post-discharge fortified human milk feeding does not increase the risk of infection or feeding intolerance, does not differ significantly from formula feeding in short-term catch-up growth or neuropsychological development, and appears clinically feasible and safe.

  • ● CLINICAL RESEARCH
    Zi-Bei ZHOU, Juan ZHANG, Zai-Ling LI
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    Objective To investigate the expression patterns of fecal iron metabolism-related proteins at the early stage of food allergy (FA) onset in infants, and to explore the association between imbalance of local intestinal iron homeostasis and infant FA. Methods A nested case-control design within a prospective clinical cohort was used. From October 2024 to June 2025, 162 infants with suspected FA were recruited from outpatient clinics, the child health department, and community settings, and classified into an FA group (n=88) and a non-FA group (n=74) according to standardized oral food challenge results. Baseline fecal samples collected prior to diagnosis were tested by enzyme-linked immunosorbent assay for iron metabolism-related proteins, and fecal non-heme iron content was measured. Group differences were compared. Results FA onset peaked at 4-6 months of age, coinciding with the period of physiological depletion of fetal iron stores. Gastrointestinal symptoms predominated. Compared with the non-FA group, the FA group had significantly higher fecal transferrin receptor 1 concentrations (P<0.001) and significantly lower ferritin heavy chain, ferritin light chain, and non-heme iron content (all P<0.05). No significant between-group differences were observed in lactoferrin or hephaestin concentrations (P>0.05). Conclusions Infants with FA exhibit an imbalance of local intestinal iron homeostasis at the early stage of disease onset, characterized by enhanced iron uptake signaling alongside reduced iron storage, indicative of a functional iron deficiency state. This imbalance appears associated with the early occurrence of infant FA.

  • ● CLINICAL RESEARCH
    Mo-Yu XU, Yu-Die WANG, Jia-Yi LIU, Han JIANG, Yu-Qin LI, Hong-Yan LU, Ming CHANG
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    Objective To compare the efficacy of subcutaneous immunotherapy (SCIT) and its impact on quality of life between children with dust mite-allergic asthma who are monosensitized and those who are polysensitized. Methods This prospective longitudinal cohort study enrolled 80 children with dust mite-allergic asthma, who were divided into a monosensitization group (n=40) and a polysensitization group (n=40). All children completed 3 years of standardized dust mite SCIT. Indicators compared between the two groups before and after treatment included peripheral blood eosinophil percentage, fractional exhaled nitric oxide, pulmonary function parameters, visual analog scale score, Asthma Control Test score, quality of life score, and Children's Sleep Habits Questionnaire score. Results After 3 years of treatment, both groups showed significant improvements in all indicators from baseline (all P<0.05). The monosensitization group demonstrated greater improvements than the polysensitization group in peripheral blood eosinophil percentage, fractional exhaled nitric oxide, maximum mid-expiratory flow as a percentage of predicted value, Asthma Control Test scores, and quality of life scores (all P<0.05). The incidence of adverse reactions did not differ significantly between the two groups (P>0.05). Conclusions SCIT is effective in children with dust mite-allergic asthma, and monosensitized children show greater improvements in small airway function, asthma control, and quality of life.

  • ● CLINICAL RESEARCH
    Wen-Hui DONG, Lie HUANG, Yan-Bin AN, Bo-Yin DENG, Ying FAN, Jian-Hui WANG, Yuan SHI
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    Objective To establish reference ranges for right ventricular functional parameters at defined postnatal time points in neonates, thereby providing a basis for precise hemodynamic assessment and clinical management of critically ill neonates. Methods In a prospective multicenter observational study, clinical and echocardiographic data were collected from 406 term neonates who were admitted to neonatal departments or seen in outpatient clinics of three centers (Children's Hospital of Chongqing Medical University, Yinchuan First People's Hospital, and Inner Mongolia Maternal and Child Health Care Hospital) between June 2023 and May 2024. Bedside echocardiography was used to measure right ventricular functional parameters. Spearman rank correlation was applied to assess associations between each parameter and sex, birth weight, gestational age, and postnatal age. Reference ranges were constructed using the 95% confidence interval approach for postnatal days 1, 3, 7, 14, and 28, with stratification by gestational age and birth weight. Results Among the right ventricular functional parameters, right ventricular fractional area change (RV-FAC), tricuspid annular plane systolic excursion (TAPSE), and tricuspid annular peak systolic velocity were positively correlated with gestational age and birth weight (all P<0.05). RV-FAC, TAPSE, right ventricular outflow tract velocity-time integral, tricuspid annular peak systolic velocity, tricuspid inflow E-wave peak velocity, tricuspid inflow E/A ratio, and peak early diastolic velocity of the lateral tricuspid annulus (e') were positively correlated with postnatal age (all P<0.05). None of the right ventricular parameters was correlated with sex (all P>0.05). Reference ranges for postnatal days 1, 3, 7, 14, and 28 were established with stratification by gestational age and birth weight. Conclusions Multiple parameters of neonatal right ventricular systolic and diastolic function are associated with postnatal age, gestational age, and birth weight. The comprehensive, stratified reference ranges for right ventricular functional parameters established in this study may serve as an important reference for refined hemodynamic assessment and management in critically ill neonates.

  • ● CLINICAL RESEARCH
    Ya-Lin XIA, Wen JIANG, Jie-Fan SUN, Xu-Fang ZHOU, Ling-Jun KONG, Pei WANG
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    Objective To evaluate the clinical value of echocardiography in assessing myocardial injury following anthracycline chemotherapy in children with leukemia. Methods A total of 267 children with leukemia who received anthracycline-based chemotherapy at Suzhou Wujiang District Children's Hospital from June 2020 to May 2025 were enrolled. Based on cardiac troponin I levels, the children were divided into a myocardial injury group (n=81) and a non-myocardial injury group (n=186). Clinical data, myocardial injury markers, and echocardiographic parameters were compared between groups. A random forest algorithm was used to screen for influencing factors, and multivariable logistic regression was employed to identify independent predictors. Receiver operating characteristic curve analysis was used to evaluate the predictive performance of individual and combined factors, and the DeLong test was employed to compare combined diagnostic performance across sex- and age-stratified subgroups. Results Random forest analysis indicated the lowest out-of-bag error rate when the model included left ventricular ejection fraction (LVEF), cumulative anthracycline dose, left ventricular end-diastolic volume index, left ventricular end-systolic volume index, E-wave velocity, A-wave velocity, and E-wave velocity/A-wave velocity (E/A) ratio. Multivariable logistic regression showed that cumulative anthracycline dose (OR=8.998, 95%CI: 4.759-15.013), and pre-chemotherapy LVEF (OR=7.714, 95%CI: 3.985-14.932), E/A ratio (OR=12.207, 95%CI: 6.269-23.769), E-wave velocity (OR=5.842, 95%CI: 2.959-11.532), and A-wave velocity (OR=7.114, 95%CI: 3.913-12.933) were independent predictors of myocardial injury following chemotherapy (P<0.05). Receiver operating characteristic curve analysis showed that the combined diagnostic model achieved superior predictive performance compared with any single indicator, with an area under the curve of 0.936, sensitivity of 0.820, and specificity of 0.917; predictive efficacy was maintained in both sex- and age-stratified subgroups. Conclusions A combined model integrating echocardiographic parameters (LVEF, E-wave velocity, A-wave velocity, and E/A ratio) with cumulative anthracycline dose demonstrates high predictive efficacy for post-chemotherapy myocardial injury in children with leukemia and is applicable across sexes and age groups.

  • ● CLINICAL RESEARCH
    Jie CHEN, Xiao-Xia YU, Xiao-Song SHI, Bing CHEN, Shen WU, Ri-Rong ZHONG
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    Objective To preliminarily assess the efficacy and safety of telitacicept in pediatric IgA nephropathy (IgAN). Methods Clinical data of 11 children with IgAN who received telitacicept in the Department of Pediatrics, Provincial Hospital Affiliated to Fuzhou University, from January 2024 to October 2025 were retrospectively collected. Parameters compared before and after treatment included 24-hour urinary protein, serum albumin, immunoglobulins (IgG, IgA, IgM), peripheral blood CD19+ cells, estimated glomerular filtration rate (eGFR), and glucocorticoid dosage. Adverse events were recorded. Results At 4, 12, 24, 36, and 48 weeks after treatment, 24-hour urinary protein was significantly lower than baseline (all P<0.05), with the greatest reduction at 12 weeks (P<0.001). Serum albumin increased compared with baseline, reaching statistical significance at 12, 24, and 36 weeks (all P<0.05). IgG and IgA levels decreased significantly at all time points (all P<0.05), and IgM showed an overall downward trend (P<0.05). CD19+ cell counts showed no significant change (P>0.05). Glucocorticoid dosage was significantly reduced (P<0.05), while eGFR showed no significant change (P>0.05). A total of 6 adverse event episodes were recorded, predominantly mild respiratory infections; no serious adverse events occurred. Conclusions Telitacicept can effectively reduce proteinuria in children with IgAN and demonstrates an overall favorable safety profile.

  • ● CLINICAL RESEARCH
    Shuo WU, Yi-Rou WANG, Jia-Yue HU, Guo-Ying CHANG, Xin LI, Qun LI, Yu DING, Ting-Ting YU, Xiu-Min WANG
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    Objective To summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP). Methods A retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between January 2018 and August 2025, including clinical features, genetic testing results, and follow-up data. Results Of the 12 children, 1 had infantile HPP, 8 had childhood HPP, and 3 had odonto-HPP. Common manifestations included non-traumatic premature loss of primary teeth (n=11), skeletal deformities (n=6), and short stature (n=5). The median age at symptom onset was 23.50 months, and the median age at clinical diagnosis was 38.50 months. The serum alkaline phosphatase standard deviation score was lower in children with childhood HPP than in those with odonto-HPP (P<0.05). A total of 19 ALPL variants were identified, six of which had not been previously reported: c.191T>A (p.Val64Asp), c.1407C>A (p.His469Gln), c.351C>G (p.Tyr117Ter), c.1007T>C (p.Ile336Thr), c.1280delins14 (p.Glu427Glyfs*), and c.181+5G>C. Seven children carried compound heterozygous variants, and five carried a single heterozygous variant. All three children with odonto-HPP carried only a single heterozygous variant. Conclusions HPP in children shows clinical and genetic heterogeneity, and clinical diagnosis may be delayed. Non-traumatic premature loss of primary teeth and ALPL variants are important features of HPP. There are significant differences in the levels of serum alkaline phosphatase among different subtypes. For suspected cases, serum ALP testing and ALPL genetic testing should be completed promptly.

  • EXPERIMENTAL RESEARCH
  • ● EXPERIMENTAL RESEARCH
    Jin-Lai ZHANG, Pei-Pei GAO, Yu REN
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    Objective To investigate the effects of microRNA (miR)-17-5p regulation of the hypoxia-inducible factor-1α (HIF-1α)/Bcl-2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3) pathway on cognitive function and hippocampal synaptic plasticity in epileptic mice. Methods A mouse epilepsy model was established by intraperitoneal injection of pentylenetetrazol (PTZ). Specific pathogen-free BALB/c mice were randomly assigned to seven groups (n=12 each): normal control, PTZ, miR‑17‑5p agomir control (PTZ + agomir negative control), miR‑17‑5p agomir (PTZ + miR‑17‑5p agomir), miR‑17‑5p agomir + pcDNA (PTZ + miR‑17‑5p agomir + empty vector), miR‑17‑5p agomir + pc-HIF‑1α (PTZ + miR‑17‑5p agomir + HIF‑1α overexpression plasmid), and miR‑17‑5p agomir + pc-BNIP3 (PTZ + miR‑17‑5p agomir + BNIP3 overexpression plasmid). Cognitive function was evaluated by the Morris water maze test. Field potential recording was used to measure field excitatory postsynaptic potentials (fEPSPs) in the hippocampal CA1 region. Transmission electron microscopy was used to observe synaptic ultrastructure. Quantitative real-time reverse transcription polymerase chain reaction and Western blot were employed to detect miR‑17‑5p, HIF‑1α, BNIP3, and synapse-related proteins [postsynaptic density protein 95 (PSD95), synaptotagmin-1 (Syt1), synaptosome-associated protein 25 (SNAP25), and gephyrin] in the hippocampus. A dual-luciferase reporter assay was used to verify whether miR-17-5p directly targets HIF-1α. Results Compared with the normal control group, the PTZ group showed significant cognitive impairment (prolonged escape latency, reduced time in the target quadrant, and fewer platform crossings), damage to hippocampal synaptic structure (widened synaptic cleft and thinner postsynaptic density), reduced synaptic plasticity (a decreased maximum amplitude of fEPSPs and a reduced increase in the fEPSP slope 1 hour after high-frequency stimulation), downregulation of miR‑17‑5p and synapse-related proteins (PSD95, Syt1, SNAP25, and gephyrin), and upregulation of HIF‑1α and BNIP3 (P<0.05). In the miR-17-5p agomir group, these pathological changes were significantly reversed compared with the PTZ group (P<0.05). Overexpression of HIF‑1α or BNIP3 antagonized the protective effects of miR‑17‑5p, restoring all indicators except miR-17-5p to levels close to those of the PTZ group (P<0.05). The dual-luciferase assay confirmed that miR‑17‑5p could directly bind to the 3′-UTR of HIF‑1α. Conclusions miR‑17‑5p can directly target and inhibit the HIF‑1α/BNIP3 pathway, upregulate the expression of synapse-related proteins, repair hippocampal synaptic ultrastructure, enhance synaptic plasticity, and thereby improve cognitive function in epileptic mice, providing a potential therapeutic target for epilepsy-related cognitive impairment.

  • CASE REPORT
  • ● CASE REPORT
    Xiao-Ling ZHANG, Yi SUN
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    A 3-month-old male infant was admitted because he had required continuous invasive ventilation since birth. He was delivered at 33+4 weeks' gestation without spontaneous respiration; endotracheal intubation with positive-pressure ventilation was initiated, and Apgar scores were 3, 6, and 6 at 1, 5, and 10 minutes, respectively. Two attempts to wean from mechanical ventilation failed. Clinical findings included ptosis, hypotonia, and reduced spontaneous movements. Ultrasonography showed decreased diaphragmatic motion. Monitoring with neurally adjusted ventilatory assist showed low electrical activity of the diaphragm, insufficient to reliably trigger ventilator assistance. Whole-exome sequencing identified compound heterozygous variants (c.2300G>A and c.2380G>A) in the MUSK gene, confirming the diagnosis of congenital myasthenic syndrome. After oral pyridostigmine, the peak value of electrical activity of the diaphragm increased, but it remained low for most of the time, and the infant remained ventilator-dependent. The family elected to discontinue active treatment, and the infant died. This case is characterized by severe respiratory failure, muscle weakness, and specific causative gene variants, with limited treatment response and poor prognosis. Congenital myasthenic syndrome should be considered in neonates with early-onset, persistent, severe respiratory failure accompanied by neuromuscular involvement. Early genetic testing facilitates a definitive diagnosis, but current therapeutic options are limited, underscoring the need for new interventions.

  • REVIEW
  • ● REVIEW
    Jie GU, Yu-Hang LIU, Si-Qi HONG
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    Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder in which cardiac involvement is relatively insidious, and heart failure has become one of the major determinants of prognosis. Cardiac magnetic resonance imaging and speckle-tracking echocardiography provide a basis for the precise assessment of DMD-associated cardiomyopathy. At present, glucocorticoid therapy and cardiovascular drug therapy are the basic treatment approaches, and gene therapy, cell therapy, and molecularly targeted drugs are continually evolving. This review summarizes pathogenic mechanisms, diagnostic techniques, and therapeutic strategies for DMD-associated cardiomyopathy, with the aim of informing standardized clinical management and improving patient quality of life.

  • ● REVIEW
    Xiao-Zhen HUANG, Hong CHEN, Rui-Min CHEN
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    The spliceosome is the core molecular machinery for RNA splicing, and its dysfunction can disrupt gene expression programs during neurodevelopment. With the widespread application of whole-genome sequencing, transcriptome sequencing, and long-read sequencing, the spectrum of spliceosome-related neurodevelopmental disorders has been continuously expanding. This review summarizes the genetic features, clinical phenotypes, and molecular mechanisms of pathogenic variants at three levels of the spliceosome: small nuclear RNAs, small nuclear ribonucleoproteins, and spliceosome assembly/regulatory factors. It further discusses tissue selectivity and phenotypic heterogeneity of spliceosome-related disorders, and highlights emerging research strategies and advances in RNA-targeted therapies, with the aim of informing mechanistic exploration and clinical research.

  • ● REVIEW
    Tai-Xiang LIU, Li-Ping SHI, Zheng CHEN
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    Patent ductus arteriosus is a common cardiovascular problem in preterm infants, particularly those born very preterm. Persistent left-to-right shunting may cause pulmonary overcirculation, left-sided volume overload, and systemic hypoperfusion, yet simply promoting anatomical ductal closure has not been shown to improve major clinical outcomes. Management has increasingly shifted from routine closure toward selective intervention guided by hemodynamic effects and clinical risk. This review summarizes the applicability of different management strategies, the boundaries of current evidence, and a risk-stratified management approach, providing reference for clinical decision-making and future research.

  • ● REVIEW
    Wen XU, Shi WANG, Tian-Hua LI
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    Kawasaki disease (KD) is an acute febrile illness characterized by systemic vasculitis, with coronary artery lesion (CAL) representing its most serious complication. The NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome plays a pivotal role in KD-associated CAL. Upon activation, it cleaves and releases mature interleukin-18 (IL-18) and other proinflammatory cytokines, which propagates downstream inflammatory cascades. IL‑18 binding protein (IL‑18BP) is an endogenous high-affinity antagonist. Studies have shown that dysregulation of the IL‑18/IL‑18BP axis, together with aberrant NLRP3 inflammasome activation, contributes to the initiation and progression of coronary artery injury in KD. This review aims to elucidate the positive feedback amplification between IL-18 and the NLRP3 inflammasome in KD-CAL, and the pathways through which IL-18BP regulates the NLRP3 inflammasome by blocking this positive feedback loop, thereby providing a new theoretical basis and potential interventional targets for the treatment of KD.