The National Health Commission and the State Administration for Market Regulation jointly promulgated the "National Food Safety Standard: General Standard for Infant Formula for Special Medical Purposes" (GB 25596-2025, hereinafter referred to as the "New Standard") on March 16, 2025. The New Standard introduces comprehensive optimizations regarding the reference ranges, content requirements, and testing methods for macronutrients (proteins, carbohydrates, and fats), vitamins, minerals, and other optional components. Additionally, it expands the product categories from the original 6 to 13 types, with corresponding technical specifications established for each category. Currently, all approved infant formula products for special medical purposes (hereinafter referred to as "FSMP for infants") in the market are manufactured in compliance with the 2010 version of the standard (GB 25596-2010, "Old Standard"). This article will focus on analyzing the changes in mandatory and optional component requirements, while evaluating the compliance status of approved products with the New Standard. The findings aim to assist clinical pediatricians in accurately understanding the key revisions of the New Standard, thereby enabling more scientifically appropriate nutritional support plans for infants with special medical conditions.

Objective Both preterm and postterm pregnancies can adversely affect neonatal outcomes; however, research on the differences in neonatal outcomes across various gestational ages within the full-term range (37⁺⁰ to 41⁺⁶ weeks) remains limited. Therefore, this study aims to explore the potential association between the gestational week of delivery within full-term pregnancy and adverse perinatal outcomes using a retrospective pregnancy cohort from a single center. Methods A retrospective cohort of pregnant women who delivered at hospital between January 2023 and December 2024, and their neonates, was included. Maternal and neonatal characteristics, as well as adverse outcomes [including large for gestational age (LGA), small for gestational age (SGA), low birth weight (LBW), macrosomia, 5-minute Apgar score≤7, and stillbirth], were compared across different gestational weeks. Restricted cubic spline (RCS) models and multivariable logistic regression were employed to analyze the association between gestational week at delivery and adverse perinatal outcomes. Results A total of 13,123 singleton full-term natural delivery cases were included from 43,502 parturients. They were included and categorized into five groups according to gestational week at delivery: the 37⁺⁰-37⁺⁶ weeks group (n=952), the 38⁺⁰-38⁺⁶ weeks group (n=2,707), the 39⁺⁰-39⁺⁶ weeks group (n=4,920), the 40⁺⁰-40⁺⁶ weeks group (n=4,164), and the 41⁺⁰-41⁺⁶ weeks group (n=380). The proportion of advanced maternal age (≥35 years) decreased with increasing gestational age, declining from 18.2% in the 37⁺⁰-37⁺⁶ weeks group to 10.0% in the 41⁺⁰-41⁺⁶ weeks group. The distribution of pre-pregnancy BMI categories differed significantly among the gestational age groups (P<0.001), with the 37⁺⁰-37⁺⁶ weeks group having higher proportions of overweight and obesity (10.7% and 1.7%, respectively). Gestational weight gain also varied significantly across groups (P<0.001), with the 41⁺⁰-41⁺⁶ weeks group exhibiting greater weight gain during pregnancy. The incidence of gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy/preeclampsia differed significantly among gestational age groups (P<0.001), both being most prevalent in the 37⁺⁰-37⁺⁶ weeks group (27.2% and 4.3%, respectively). There were 15 stillbirths (0.1%), 13,108 surviving newborns, among whom 423 newborns (3.2%) were LGA, 799 (6.1%) were SGA, 166 (1.3%) were macrosomia, 180 (1.4%) were LBW, and 9 (0.1%) had a low Apgar score at 5 minutes. Restricted cubic spline analysis initially suggested that 39⁺⁰-40⁺⁶ weeks of gestation might represent a window of lower risk for adverse neonatal outcomes. Multivariate logistic regression further confirmed that, compared with delivery at 39⁺⁰-39⁺⁶ weeks, delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of SGA (P<0.01); delivery at 40⁺⁰-40⁺⁶ weeks and 41⁺⁰-41⁺⁶ weeks was associated with a significantly increased risk of macrosomia (P<0.001); delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of LBW (P<0.001); the 41⁺⁰-41⁺⁶ weeks group had an increased risk of a 5-minute Apgar score≤7 (P=0.029); and delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of stillbirth (P<0.01). Conclusions The timing of delivery in full-term pregnancies may affect neonatal outcomes. The period from 39⁺⁰ to 40⁺⁶ weeks of gestation is a window during which the risks of various adverse outcomes are at relatively low levels. This study may have potential value for further optimizing clinical pregnancy monitoring and perinatal management.

With advances in perinatal medicine and improved care for extremely preterm infants, the incidence of severe respiratory complications—such as neonatal respiratory distress syndrome (NRDS)—has risen in recent years. Although the diagnosis and management of NRDS in China have made substantial progress, rates of severe complications, including severe intracranial hemorrhage and bronchopulmonary dysplasia (BPD), remain markedly higher than those observed in high-income countries in Europe and North America. Current clinical practice faces several critical challenges, including difficulties in the early differentiation of NRDS from neonatal acute respiratory distress syndrome (NARDS), which may delay timely and appropriate interventions. Furthermore, key therapeutic decisions lack robust evidence or consensus, such as the optimal timing of pulmonary surfactant administration, selection of invasive ventilation strategies, and post-extubation respiratory support approaches—some guidelines exist but are often based on limited or low-quality data. Leveraging national strategic initiatives and multicenter collaborative platforms like the China Neonatal Network (CHNN), Chinese researchers have recently published a series of high-impact studies on NRDS in leading journals including The BMJ, directly addressing these unresolved clinical questions and generating high-quality, context-specific evidence to improve outcomes. This article reviews the current landscape of NRDS management, highlights pivotal recent findings, and outlines future research priorities, in order to enhance the cognitive level of chinical physicians.

Objective To analyze the air-conduction click (c-ABR) and tone burst auditory brainstem response (Tb-ABR) thresholds in infants and young children with otitis media with effusion (OME) and explore the clinical significance of air-conduction Tb-ABR thresholds in frequency-specific hearing assessment for OME infants and young children. Methods A retrospective analysis was conducted on the ABR threshold test results of OME infants and young children aged 0~24 months and normal control infants from January 2018 to December 2022. The air-conduction click, Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz ABR thresholds were compared between the two groups. The correlation between c-ABR and Tb-ABR thresholds within the OME group was analyzed. Results The OME group consisted of 43 patients (28 boys and 15 girls), with a median age of 8 (3-14) months. The following testing was completed: air-conduction click for 43 cases (60 ears), Tb-500 Hz for 32 cases (45 ears), Tb-1000 Hz for 27 cases (39 ears), Tb-2000 Hz for 11 cases (17 ears), and Tb-4000 Hz for 11 cases (17 ears). The control group included 21 patients (10 boys and 11 girls), with a median age of 6 (4-8.25) months. The following tests were completed for the control group: air-conduction click, Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz for 21 cases (42 ears). The air-conduction click and Tb-ABR thresholds at Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz in the OME group were all significantly higher than those in the normal control group (P<0.01). In the OME group, the air-conduction c-ABR threshold was lower than the thresholds for Tb-ABR at all four frequencies (P<0.05). A positive correlation was found between the thresholds at different frequencies (P<0.05), and the correlation coefficient between Tb-2000 Hz and Tb-4000 Hz was 0.925. Conclusions Infants and young children with OME may experience hearing loss across a range of frequencies, from low to high. Compared to air-conduction c-ABR, Tb-ABR thresholds provide more information about frequency-specific hearing. In clinical settings with limited testing time, Tb-2000 Hz or Tb-4000 Hz might be selected for threshold testing, in addition to 500 Hz and 1000 Hz.

Hypercalcemia of Infancy Type 1 (HCINF1) is a rare genetic disorder resulting from pathogenic variants in the CYP24A1 gene. The disease typically manifests during infancy or adulthood, with highly variable clinical presentations. Management is categorized into acute and long-term phases. Acute management encompasses hydration, diuretic therapy, glucocorticoids, calcitonin, bisphosphonates, and, in severe cases, dialysis. Long-term strategies primarily focus on lifestyle modifications—particularly restriction of vitamin D and calcium intake—and pharmacological interventions that bypass impaired metabolic pathways. However, the durability, efficacy, and safety profile of these long-term therapies remain to be fully established and warrant further investigation. Currently, there is a lack of clinical management guidelines or consensus for HCINF1. This review summarizes current advances in therapeutic approaches with the aim of informing and improving clinical decision-making.

Objective To explore the risk factors of early postnatal hypothermia in premature infants and whether the rewarming rate after the implementation of standard rewarming measures is a key factor affecting early clinical outcomes. Methods This study was a retrospective cohort study, selecting the clinical data of premature infants in the region who were treated by the hospital's neonatal transfer team from January 2022 to December 2024. According to the body temperature before transfer, they were divided into the normal body temperature group (≥36.5 ℃) and the hypothermia group (<36.5 ℃). The hypothermia group was given a unified rewarming strategy. According to the rewarming rate after insulation intervention, the hypothermia group was further divided into the slow rewarming group (<0.5 ℃/h) and the rapid rewarming group (≥0.5 ℃/h). Clinical outcomes within the first 7 days after birth (including mortality, pulmonary hemorrhage, severe intracranial hemorrhage, coagulation abnormalities, and the proportion requiring one or more vasoactive agents) and the proportion of infants still requiring invasive mechanical ventilation beyond 7 days were compared across different gestational age subgroups (<32⁺⁰ weeks and 32⁺⁰-36⁺⁶ weeks). Results A total of 1,016 preterm infants from 6 delivery institutions were included. Among the 250 infants with a gestational age of <32⁺⁰ weeks, 214 developed hypothermia (85.6%); among the 766 infants with a gestational age of 32⁺⁰-36⁺⁶ weeks, 530 developed hypothermia (69.2%). The incidence of hypothermia was significantly higher in the <32⁺⁰ weeks group compared to the 32⁺⁰-36⁺⁶ weeks group (P<0.001). The normal temperature group comprised 272 cases (26.8%), while the hypothermia group included 744 cases (73.2%). Within the hypothermia group, 338 cases were in the slow rewarming group and 406 in the rapid rewarming group. Among preterm infants with a gestational age of <32⁺⁰ weeks, compared with the normal body temperature group, the mothers in the hypothermia group were older, the gestational age of preterm infants at birth was smaller, the birth weight was lower, and the weight-for-gestational-age Z-score was lower. The differences were all statistically significant (P<0.05). Among preterm infants with gestational ages ranging from 32⁺⁰ to 36⁺⁶ weeks, the preterm infants in the hypothermia group had a lower birth weight (P<0.05) and a higher proportion of intubation in the delivery room (P<0.014). Further comparison was made between the slow rewarming group and the rapid rewarming group. Among preterm infants with a gestational age of <32⁺⁰ weeks, the proportion of assisted reproduction was lower and the proportion of males was higher in the slow rewarming group, and the differences were statistically significant (P<0.05). Among preterm infants with gestational ages ranging from 32⁺⁰ to 36⁺⁶ weeks, the slow rewarming group had a smaller gestational age at birth (P<0.05). In preterm infants with a gestational age of <32⁺⁰ weeks, the proportions of infants still requiring invasive mechanical ventilation beyond 7 days were higher in both the slow and rapid rewarming groups compared to the normal temperature group (P<0.014). Among preterm infants with a gestational age of 32⁺⁰ to 36⁺⁶ weeks, no significant differences in short-term outcome indicators were observed between the hypothermia group and the normal body temperature group. Among all preterm infants of gestational age, no significant differences were observed in the short-term clinical outcome indicators between the slow rewarming group and the rapid rewarming group. Conclusions The incidence of early hypothermia in preterm infants within the region is relatively high. Hypothermia in preterm infants with a gestational age of <32⁺⁰ weeks increases the probability of requiring invasive respiratory support 7 days after birth. It is particularly important to emphasize the prevention of hypothermia in extremely preterm infants immediately after birth in the delivery room. Under standard rewarming measures, the speed at which preterm infants' body temperature rises does not have a significant impact on their early clinical outcomes after birth.

Objective To investigate the application of drug-induced sleep endoscopy (DISE) in pediatric obstructive sleep apnea (OSA). Methods The clinical data of children diagnosed with OSA by polysomnography (PSG) and DISE examination were retrospectively analyzed from June 1, 2023 to June 1, 2024 in the Department of Otorhinolaryngology. The NAVOTEL scoring system was used to score DISE, and the correlation between DISE score and apnea-hypopnea index (AHI) and minimum arterial oxygen saturation (SaO₂) was analyzed. Results DISE tests were performed in 163 children (114 boys and 49 girls), and the median age was 7.0 (5.0-9.0) years. The most common obstructive site was the velopharynx (137 cases, 84.0%), followed by the lateral oropharynx (124 cases, 76.1%), nasal cavity (95 cases, 58.3%), adenoid (92 cases, 56.4%), base of the tongue (52 cases, 31.9%), epiglottis (30 cases, 18.4%), and larynx (3 cases, 1.8%). The most common obstruction site in children of different age groups (≤5 years old, 6~10 years old and 11~18 years old) was velopharynx, accounting for 81.0%, 86.2% and 83.3%, respectively. Spearman rank correlation analysis showed that the total NAVOTEL score of 163 children was significantly positively correlated with AHI (r_s=0.48, P<0.01), and significantly negatively correlated with the lowest SaO₂ (r_s=-0.35, P<0.01). The NAVOTEL score of palatopharyngeal obstruction was positively correlated with AHI (r_s=0.33, P<0.01) and negatively correlated with the lowest SaO₂ (r_s=-0.48, P<0.01). Conclusions DISE can be used to evaluate the site and severity of upper airway obstruction in children with OSA, and its score is correlated with AHI and minimum SaO₂, which can cooperate with PSG to improve the diagnosis and treatment level of OSA in children.

Objective To understand the influenza vaccination situation of children under 16 years old in Shanghai and parents' awareness of influenza and influenza vaccines, analyze the influencing factors of influenza vaccination, and provide a reference basis for improving the influenza vaccination rate and preventing the prevalence of influenza among children. Methods A total of 527 subjects from Yangpu District and Baoshan District in Shanghai were selected from September 2024 to February 2025, by convenience sampling for a questionnaire survey. The questionnaire included an influenza vaccination status survey and a self-made survey on knowledge about influenza and the influenza vaccine. Multivariate logistic regression was used to analyze factors associated with childhood influenza vaccination. Results A total of 527 questionnaires were distributed, 525 were collected, and 506 were valid, yielding an effective rate of 96.4%. Among the 506 children, 244 (48.2%) were boys and 262 (51.8%) were girls, with a median age of 8 (5-11) years. A total of 287 children (56.7%) had been vaccinated against influenza, of whom 133 had received at least one dose, 76 were vaccinated only during the flu season, and 78 were vaccinated annually; 219 children (43.3%) had never been vaccinated. The main reason why parents are willing to have their children vaccinated against the flu is to prevent flu infection, while concerns about vaccine safety were the main reasons parents were unwilling to vaccinate their children or reluctant to vaccinate again. Multivariate logistic regression showed that history of preterm birth (OR=0.38, 95% CI: 0.18-0.83), parents working in government agencies, enterprises, or institutions (OR=2.03, 95% CI: 1.06-3.86), parents engaged in social production and living services (OR=3.22, 95% CI: 1.40-7.40), and the influenza knowledge (OR=1.24, 95% CI: 1.08-1.44) were all correlated with childhood influenza vaccination status (P<0.05). Conclusions The childhood influenza vaccination rate still needs improvement, especially for special groups such as preterm infants; vaccine safety remains a major concern for parents.

Objective To investigate the phenotypic impact of dual variations in GABRG2 and SCN1A on genetic epilepsy with febrile seizures plus (GEFS+). Methods The clinical data of a 3-year-old girl and her three generations of family members who visited the Pediatric Internal Medicine Department due to "repeated convulsions" in May 2023 were collected. The genetic variations of this family were verified by whole exome sequencing (WES) and Sanger sequencing, and the genotype-phenotypic association was analyzed in combination with the literature. Results Among the 6 members of this family, 3 patients with SCN1A (c.5621G>A) mutations presented with febrile seizures (FS) or late-onset antiseizure medication-responsive epilepsy. Two individuals with isolated GABRG2 mutations presented with FS or incomplete penetrance. The proband, carrying dual mutations, manifested early-onset refractory epilepsy and status epilepticus. Two patients with the same single variant reported in the literature also showed FS. Protein interaction analysis revealed co-expression and functional synergy between SCN1A and GABRG2 in regulating neuronal excitability. Conclusions Dual mutations in SCN1A and GABRG2 may exacerbate epilepsy phenotypes through additive functional effects and genetic modifying mechanisms. Clinicians should be vigilant for synergistic interactions of dual variations in families with heterogeneous phenotypes, and timely genetic testing is critical to guide precision therapy and genetic counseling.

Objective To investigate the clinical features and immune mechanisms of post-viral encephalitis autoimmune encephalitis (PVEAE) caused by human herpesvirus 7 (HHV-7) encephalitis in children. Methods A retrospective analysis of clinical manifestations, cranial MRI, electroencephalogram (EEG), and other clinical data from four pediatric patients during the viral encephalitis (VE) phase and post-viral encephalitis with autoimmune encephalitis (PVEAE) phase. Clinical indicators including cytokines and antibodies associated with autoimmune encephalitis in cerebrospinal fluid (CSF) during the PVEAE phase were measured. The clinical characteristics and immune mechanisms of HHV-7 encephalitis complicated by PVEAE were analyzed, and diagnostic and therapeutic experiences were summarized. Results The median age of onset in the 4 pediatric patients was 7 years. The average interval between the onset of HHV-7 encephalitis and the emergence of PVEAE symptoms was 17 days. All 4 patients exhibited symptoms during the PVEAE phase, including fever, seizures, psychiatric and behavioral abnormalities, cognitive impairment, and speech disorders. During the PVEAE phase, 3 patients tested positive for anti-NMDAR antibodies and 1 for anti-neurexin-3a antibodies. CSF levels of IL-6 and IL-8 were significantly elevated in all cases. New lesions were identified on cranial MRI in 3 patients during the PVEAE phase, primarily involving the frontal-parietal lobes, commissural region of the corpus callosum, right thalamus, and left hippocampus. Four patients received first-line immunosuppressive therapy. All demonstrated favorable outcomes at 6-to 12-month follow-up, though mild neurobehavioral sequelae persisted, including attention deficits and memory impairment. One patient developed mild enuresis and refractory epilepsy. Conclusion In children with HHV-7 encephalitis, paradoxical deterioration during the remission phase warrants consideration of concurrent PVEAE. During the PVEAE phase, CSF cytokine levels of IL-6 and IL-8 significantly increase, indicating that immune-inflammatory responses constitute the primary pathogenesis of PVEAE.

Attention deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder defined by developmentally inappropriate inattention and/or hyperactivity-impulsivity that impairs daily functioning. Mood disorders are highly prevalent comorbidities in ADHD, exacerbating treatment complexity and exerting adverse effects on core symptom severity and long-term prognosis. This review synthesizes the latest research advances in the epidemiology, pathophysiological mechanisms, assessment-diagnostic strategies, and therapeutic interventions for ADHD comorbid with mood disorders, aiming to provide an evidence-based theoretical foundation for comprehensive clinical diagnosis and integrated management.

The article of "The association of gestational age at term and adverse perinatal outcomes: a retrospective study based on 43502 Chinese pregnant women" by Liu Xiaoyang and co-authors published in this issue, was based on the clinical data of 13,123 singleton full-term and natural delivery mothers from West China Second University Hospital of Sichuan University. It systematically analyzed the impact of different delivery timings within 37⁺⁰ to 41⁺⁶ weeks on neonatal outcomes, and pointed out that 39⁺⁰ to 40⁺⁶ weeks is a "window period" with a relatively low risk of adverse outcomes. This study had a clear research idea and advanced statistical methods, especially in handling the non-linear relationship between gestational age and outcomes, it adopted the restricted cubic spline model, which had high clinical reference value. However, as a retrospective study, it also had certain limitations in causal inference, confounding control, and generalizability. This article, in combination with the review of this research report, makes a summary analysis of the value and limitations of retrospective studies.

Delayed screening, diagnosis, and intervention for hearing impairment can significantly hinder the development of speech-language, cognitive, and communication abilities in children. Over the past two decades, China has made substantial progress in establishing a comprehensive system for pediatric hearing screening, diagnosis, treatment, and rehabilitation (referred to as the “screen-diagnose-treat-rehabilitate” system). This review focuses on national policies, key technologies, and service models across the entire continuum of care for childhood hearing impairment—from early screening and diagnosis to intervention and rehabilitation, as well as emerging roles of artificial intelligence, telemedicine, and genetic screening in improving screening efficiency and enhancing service accessibility. The paper further proposes a future-oriented pediatric hearing healthcare system characterized by interdepartmental coordination, intelligent and precise service delivery, scalability, and full-process management.

Objective To investigate the clinical manifestations and genetic characteristics of 2 patients with intellectual disability, X-linked, syndromic, Bain type (MRXSB). Methods Two female children who visited the hospital due to "global growth and development delay and intellectual disability" in January 2023 and November 2023 were taken as the research subjects, and the clinical data of the probands were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing verification were performed on the proband and his family. The methylation-sensitive sites were analyzed by using the XCI detection kit (XCI Filer), and the degree of X chromosome bias inactivation was quantitatively analyzed in combination with capillary electrophoresis. Bioinformatics tools were used to predict the pathogenicity of variations. Results The two children were girls aged 11 and 10 months respectively, both presenting with global growth and development delay, intellectual disability, hypotonia and absence of motor milestones. Among them, proband 1 was accompanied by feeding difficulties, dysphagia and shortness of breath symptoms. The results of trio-WES indicated that both of the two children had heterozygous variations of c.616C>T(p.Arg206Trp) in the HNRNPH2 gene (NM_019597), and Sanger sequencing verification suggested that the variations were all spontaneous variations. XCI analysis indicated that both of the two children had X chromosome bias inactivation, with bias rates of 17.3% and 14.0% respectively. Conclusions This study diagnosed for the first time two girls with MRXSB whose age of onset was<1 year old. Through XCI analysis, it was found that the X chromosomes of all the children were inactivated due to bias. Combined with the earlier and more typical clinical phenotypes of the patients, it was speculated that the degree of XCI bias in all the children might be correlated with the severity of the phenotype. XCI is the core regulatory mechanism of clinical heterogeneity in female XLID. The combination of XCI and trio-WES is of great value for the early diagnosis and prognosis evaluation of female XLID.

Fibrillary glomerulonephritis (FGN) is a rare glomerular disease with unknown etiology. Member of DNAJ heat shock protein family B9 (DNAJB9) protein may be involved in its pathogenesis. The clinical manifestations of FGN are mostly nephrotic syndrome, which can be combined with hematuria, hypertension and renal insufficiency. A few patients show rapid progressive glomerulonephritis. It has important diagnostic value by electron microscopic examination of renal tissue combined with immunohistochemistry of DNAJB9 in FGN patients.Unfortunately, there is no specific therapy at present, and the prognosis is poor. In the future, it is urgent to explore the potential therapeutic targets of FGN to improve the quality of life of FGN patients. This article reviews the possible pathogenesis and clinical characteristics of FGN.

Acute upper respiratory tract infection (AURI) is the most prevalent infectious disease among children. However, standardized methods for evaluating symptoms have not garnered the necessary attention. Standardized assessment plays a pivotal role in evaluating the natural history of diseases and the efficacy of medications, particularly in clinical trials. Currently, in clinical trials focusing on pediatric AURI, unverified subjective symptom rating scales or self-developed Traditional Chinese Medicine (TCM) syndrome scales are frequently employed. These tools exhibit limited scientific validity and lack comparability across different studies. This article systematically reviews and compares four validated efficacy assessment scales for pediatric AURI, analyzing their structural frameworks, reliability, validity, and applicable scenarios, thereby providing evidence-based guidance for researchers and clinicians in selecting evaluation indicators. Additionally, this paper notes that TCM research still relies on syndrome rating scales without unified standards. It is proposed that future efforts should integrate evaluation frameworks from both TCM and Western medicine, and develop age-specific, multi-dimensional efficacy evaluation systems for pediatric AURI, with the aim of enhancing the standardization and clinical application value of related research.

Functional constipation is one of the most common digestive system diseases in children, which can cause symptoms such as reduced defecation, hard and dry stools, abdominal distension, and abdominal pain. Long-term constipation can also lead to related problems such as delayed growth and development, urinary retention, and anxiety in children, seriously affecting their quality of life. However, at present, there is a lack of evidence-based research on the long-term hazards of functional constipation in children. Some clinicians have insufficient understanding of it, and the poor compliance of children and their parents often leads to delays in diagnosis and treatment. In view of this, this article systematically reviews the potential hazards of functional constipation to children and the progress in its diagnosis and treatment, with the aim of enhancing the attention of clinical workers and families of affected children to this disease, optimizing management strategies and improving prognosis.

Systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD) are chronic systemic autoimmune conditions marked by aberrant immune activation. The pathogenesis of both diseases is multifactorial, involving a complex interplay between genetic susceptibility and environmental influences. Although the simultaneous presence of SLE and IBD is uncommon in clinical practice, this report describes a pediatric female patient who presented with abdominal pain as the primary manifestation and was ultimately diagnosed with both SLE and ulcerative colitis. Treatment with infliximab (IFX), a tumor necrosis factor-α inhibitor, in combination with immunosuppressive therapy led to significant alleviation of her autoimmune and gastrointestinal symptoms. This case highlights the importance of maintaining a high index of suspicion for underlying IBD when evaluating SLE patients with unexplained gastrointestinal complaints—particularly abdominal pain or diarrhea—that do not correlate with typical disease flares.

Objective To investigate the clinical characteristics and risk factors for plastic bronchitis (PB) in children with macrolide-resistant Mycoplasma pneumoniae pneumonia (MRMPP). Methods A retrospective analysis was conducted on 156 children hospitalized with MRMPP in the Department of Respiratory between October 2023 and January 2024. Based on electronic bronchoscopy findings, patients were divided into a PB group (n=44) and a non-PB group (n=112). Clinical characteristics and laboratory indicators were compared between the two groups. Continuous variables showing statistical significance in univariate analysis were analyzed using receiver operating characteristic (ROC) curves to determine optimal cut-off values, which were then used to convert these variables into categorical variables. Independent risk factors were identified via multivariate binary logistic regression analysis. Results Univariate analysis revealed that the PB group had significantly higher incidences of pleural effusion, severe pneumonia, oxygen therapy support, as well as significantly longer hospitalization duration, older age, longer fever duration, and higher levels of C-reactive protein, procalcitonin, D-dimer, lactate dehydrogenase (LDH), and M. pneumoniae DNA in bronchoalveolar lavage fluid (BALF) compared to the non-PB group (all P<0.05). ROC curve analysis determined the optimal cut-off values for D-dimer, LDH, and BALF M. pneumoniae DNA to be 1.655 mg/L, 364.5 IU/mL, and 428500 copies/mL, respectively. Multivariate logistic regression analysis identified D-dimer>1.655 mg/L (OR=14.002, 95% CI: 4.063-48.251), LDH>364.5 IU/mL (OR=6.865, 95% CI: 2.251-20.933), and BALF M. pneumoniae DNA>428500 copies/mL (OR=12.306, 95% CI: 3.586-42.236) as independent risk factors for PB in MRMPP (all P<0.001). Conclusion Elevated levels of D-dimer, LDH, and M. pneumoniae DNA in BALF are independent risk factors for PB in children with MRMPP. Monitoring these indicators is crucial for the early identification of children at risk of developing PB.

In May 2023, a series of thematic articles published in The Lancet introduced a novel concept—small vulnerable neonates (SVN) which categorizes preterm, small for gestational age (SGA), and low birth weight (LBW) neonates under a unified framework. Preterm birth, SGA, and LBW have their respective definitions and have long been considered distinct populations in different clinical practices. However, there is considerable overlap among these three categories, and their pathophysiological mechanisms interact. Isolated definitions fail to capture the full picture of these neonates, potentially leading to an underestimation of the number of high-risk newborns and affecting clinical decision-making. The introduction of the SVN concept aims to increase attention to this group through a new perspective, comprehensively reflect the overall issues of high-risk newborns, and promote the health and sustainable development of perinatal medicine, neonatology, pediatrics, and even society as a whole. In the future, SVN is poised to become a core concept in disciplinary advancement and clinical practice. Therefore, this review elaborates on the background of the SVN concept, its implications for epidemiological research, as well as prevention and intervention strategies, to help clinicians and medical researchers understand this new concept and appreciate the rationale behind SVN and its significance for future development.

Objective To explore the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) combined with chemotherapy in children with myeloid sarcoma (MS). Methods A retrospective analysis was conducted on the clinical diagnosis, treatment and follow-up data of 7 children with MS who were diagnosed and treated at the hematology and oncology center from January 1, 2020 to December 31, 2023. Results There were 3 male and 4 female patients included in this study. The median age of diagnosis was 62 months (10 months - 14 years). Of the 7 patients, only 1 was initially presented with a "local mass," while the remaining 6 were diagnosed with acute myeloid leukemia (AML) and subsequently discovered to have extramedullary involvement, including 4 in the head and face, 2 in the mediastinum, and 1 in the ilium. All 7 patients received CCLG-AML-2019 protocol-based chemotherapy and bridging allo-HSCT. All children received a myeloablative pretreatment regimen prior to transplantation. Five of the 7 children were treated with post-infusion cyclophosphamide (PTCY), and 2 with busulfan combined with cyclophosphamide (BUCY). The median number of mononuclear cells infused was 19.87 (7.4-24.28)×10⁸/kg, and the median number of CD34⁺ cells infused was 12.87 (7.1-14.7)×10⁶/kg. The median time of neutrophil engraftment was +15(13-15) days, and the median time of platelet engraftment was +12(11-17) days. As of June 30, 2025, The median follow-up time was 1008 (371-1814) d. Five patients were alive, and 2 died. There was no death related to allo-HSCT. The estimated 3-year OS rate was 71%. Conclusion There are still challenges in the early diagnosis of MS in children, and the standard chemotherapy bridging allo-HSCT in the treatment of MS in children can obtain better efficacy.

Maintaining a normal body temperature is a core principle of preterm infant care during the delivery. Hypothermia, a common complication in preterm infants, is closely associated with adverse clinical outcomes. Studies have confirmed that the incidence of hypothermia in preterm infants is as high as 73.2%, with preterm infants born at a gestational age < 32 weeks being at particularly high risk. This condition is closely linked to maternal factors, mode of delivery, and delivery room environment. Future efforts should focus on strengthening the management of environments in delivery rooms, identifying high-risk factors for hypothermia, and implementing standardized body temperature maintenance during and after delivery to further improve the prognosis of preterm infants.

Objective To analyze the clinical and genetic variation characteristics of hereditary epilepsy in neonates and explore the correlation between the characteristics of genetic variations and clinical manifestations. Methods A retrospective collection was made of neonatal hereditary epilepsy cases admitted to Hebei Children's Hospital from January 2019 to December 2024. The cases were divided into KCNQ2 group and non-KCNQ2 group based on the results of gene sequencing. The clinical features of the two groups were compared, and the genotype-phenotype correlation of KCNQ2 was analyzed. Results A total of 43 cases of neonatal hereditary epilepsy were included, including 26 boys and 17 girls, with a gestational age of 39.4 (38.1-40.3) weeks and a birth weight of 3400 (3000-3400) g. There were 24 cases in the KCNQ2 group and 19 cases in the non-KCNQ2 group. The onset time of epilepsy was 3.0 (2.0-7.0) days after birth, which was earlier in the KCNQ2 group than in the non-KCNQ2 group (P<0.05). The main seizure forms were clonic (62.8%) and tonic (53.5%) seizures. The main abnormality on head MRI was abnormal brain parenchymal signal (72.1%). The most common finding on video electroencephalogram was multifocal discharges (34.9%). There were no statistically significant differences between the two groups (P>0.05). In the KCNQ2 group, there were 13 cases of self-limiting neonatal epilepsy (SeLNE) and 11 cases of developmental and epileptic encephalopathy (DEE). Among the 23 cases successfully followed up, 19 cases had seizure control, 8 cases had significant developmental delay, and 2 cases died. In the non-KCNQ2 group, there was 1 case of SeLNE, 10 cases of DEE, and 8 other cases. Among the 13 cases successfully followed up, 7 cases had seizure control, 7 cases had significant developmental delay, and 4 cases died. The proportion of SeLNE in the KCNQ2 group was higher than that in the non-KCNQ2 group (54.2% vs. 5.3%, P<0.01), and the proportion of death and significant developmental delay was lower in the KCNQ2 group (43.5% vs. 84.6%, P=0.033). There were 19 cases of KCNQ2 nucleotide sequence variations, including 10 cases of SeLNE, 5 cases of hereditary variations, and 4 cases of missense variations. Seven amino acid changes were located at the C-terminal. All 9 cases of DEE were de novo variations, including 7 cases of missense variations, and 5 amino acid changes were located at the S4, S6 and adjacent regions, and the B-helix region. Prediction of protein structural changes induced by 11 missense variants: among 4 SeLNE cases, 2 showed alterations in protein secondary structure, 3 exhibited changes in hydrogen bonds, and 4 demonstrated decreased protein stability; among 7 DEE cases, 6 displayed alterations in protein secondary structure, 4 presented changes in hydrogen bonds, and 6 manifested decreased protein stability. Conclusions KCNQ2 gene variations are the most common in neonatal hereditary epilepsy. Compared with other gene variations, KCNQ2-induced neonatal epilepsy has an earlier onset time and a lower proportion of adverse outcomes. Among them, de novo, missense, and variations at important functional domain sites, may be associated with severe phenotypes of DEE.

Objective X-linked myotubular myopathy (XLMTM) caused by MTM1 gene variation is a rare neuromuscular disease. Currently, the systematic summary of the early natural history and diagnostic clinical characteristics of XLMTM patients in China is still incomplete. Methods We retrospectively reviewed clinical data, including perinatal findings, neonatal phenotype, genetic results, and outcomes, of male neonates with genetically confirmed severe XLMTM who were admitted to the neonatal intensive care units (NICUs) in two hospitals, between January 2018 and August 2024. And the early life natural history of this disease was systematically summarized. Results Six male patients were included in this cohort. The average gestational age was (37.5±2.6) weeks. Three cases were indicated with polyhydramnios by prenatal ultrasonography, one case was found with a racquet-shaped placenta at 24 weeks of gestation, and two cases had a family history of multiple early deaths among male infants within the same lineage. Neonatal asphyxia occurred immediately after birth in 6 children, with Apgar scores ranging from 3 to 6 at 1 minute and 4 to 7 at 5 minutes. All the patients presented with severe neonatal respiratory failure and characteristic profound hypotonia/floppy, and required continuous mechanical ventilation, nutritional support and nasogastric feeding throughout the course. All the patients had secondary hole-type atrial septal defect (ASD type II), with defect diameters ranging from 2.0 to 4.5 mm. Associated findings included cryptorchidism, micrognathia and slender limbs. All patients died within 6 months, with a median survival of 32 (3-150) days. The leading causes of death included respiratory failure, infection, and withdrawal of care. Genetic analysis revealed five maternally inherited variants and one de novo mutation in the MTM1 gene; five variants were located in the Rac1-induced recruitment domain (RID), and one in the protein tyrosine phosphatase (PTP) catalytic domain. Conclusions Severe XLMTM neonates exhibit a highly uniform clinical phenotype. The core features of its natural history, including neonatal asphyxia, respiratory failure, characteristic profound hypotonia, specific dysmorphic features and limb anomalies, serve as key diagnostic pointers. This cohort suggests that the natural history of XLMTM neonates in China may differ from international reports, and different types of MTM1 gene variations can all lead to extremely severe phenotypes. Given that most patients show early warning signs such as polyhydramnios during the perinatal period, and the disease progresses rapidly with an extremely poor prognosis, the importance of early genetic screening and diagnosis for high-risk pregnant women and their fetuses is underscored.

Collagen Ⅳ is the core structural protein of the glomerular basement membrane, composed of α chains encoded by the COL4A3, COL4A4, and COL4A5 genes, which assemble into the α3α4α5 trimer. It plays a crucial role in maintaining the structural integrity and filtration function of the glomerular basement membrane. Variations in these three genes can lead to a spectrum of inherited kidney diseases, with Alport syndrome being the most representative. Clinically, Alport syndrome is characterized by hematuria, progressive renal dysfunction, sensorineural hearing loss, and ocular abnormalities, with inheritance patterns including X-linked, autosomal recessive, and autosomal dominant. Additionally, variations in the COL4A3-COL4A5 genes are closely associated with various kidney diseases, such as thin basement membrane nephropathy (TBMN), familial IgA nephropathy, focal segmental glomerulosclerosis (FSGS), steroid-resistant nephrotic syndrome (SRNS), and end-stage renal disease (ESRD) of unknown etiology. In recent years, with the widespread application of high-throughput sequencing technologies, genetic testing has increasingly demonstrated its value in disease diagnosis, prognosis assessment, and precision medicine. This article systematically reviews the clinical manifestations, molecular genetic mechanisms, and clinical management strategies of COL4A3-COL4A5-related kidney diseases, aiming to provide a theoretical foundation and practical guidance for early diagnosis and individualized treatment of these conditions.

Objective To investigate the clinical phenotypes, pathological characteristics, genetic variants, and treatment outcomes in children with C3 glomerulopathy (C3G), and to provide evidence for precise diagnosis and management. Methods Clinical, pathological, and genetic data from four pediatric patients diagnosed with C3G at the Department of Nephrology between July 2021 and March 2024 were retrospectively analyzed. Additionally, published cases of C3G in Chinese children from both domestic and international literature were systematically reviewed and summarized to contextualize our findings. Results Four pediatric patients with C3G were included in the study, comprising two boys and two girls aged 10 to 12 years. All presented with nephrotic syndrome and hematuria, and three exhibited renal insufficiency at initial presentation. Laboratory evaluation revealed reduced serum complement C3 levels (0.9-1.8 g/L) in all patients, decreased C4 in two, and elevated membrane attack complex (C5b-9) in all. Renal histopathology demonstrated diffuse mesangial cell and matrix proliferation in all cases. Immunofluorescence showed predominant C3 deposition, and electron microscopy confirmed a diagnosis of C3 glomerulonephritis (C3GN) in three patients and dense deposit disease (DDD) in one. Whole exome sequencing was performed in three patients, identifying a single missense variant in the C3 gene (c.4887G>C, p.Glu1629Asp) inherited from a phenotypically healthy mother; this variant was classified as having uncertain clinical significance according to ACMG criteria. All patients received immunosuppressive therapy combining glucocorticoids with other agents; eculizumab was added in two refractory cases. With follow-up of 3 to 8 months, all three patients with initial renal insufficiency achieved normalization of renal function, and proteinuria decreased in all four. Two patients attained complete remission, one achieved partial remission, and one showed no response. Conclusions Pediatric C3G predominantly manifests as nephrotic syndrome with persistent hypocomplementemia. Key pathological features include diffuse mesangial proliferation and dominant C3 deposition on immunofluorescence. Genetic variants are infrequently detected, suggesting potential non-monogenic mechanisms in many cases. Immunosuppressive regimens based on glucocorticoids remain the mainstay of therapy, while eculizumab may offer therapeutic benefit in selected refractory cases. Early integration of renal biopsy, complement profiling, and genetic analysis facilitates timely and accurate diagnosis. Long-term outcomes require further assessment through extended follow-up and larger cohort studies.

Objective To summarize the clinical characteristics of five children with Schimke immunoosseous dysplasia (SIOD) and analyze the variants in the SMARCAL1 gene, aiming to enhance the understanding of SIOD and underscore the significance of genetic diagnosis. Methods Clinical data and genetic testing results were retrospectively collected from five SIOD patients who presented to the Nephrology Department between 2016 and 2024. Results Patients 1, 2, and 3 died after 1 year, 1 year and 3 months, and 8 months of follow-up, respectively. Patient 4 exhibited progressive proteinuria during 9 months of follow-up but maintained normal renal function. Patient 5 was followed for 9 years; bilateral hip dislocation occurred at the age of 18, for which hip replacement surgery was performed. At 19 years of age, he presented with short stature, stable urinary protein levels, and preserved renal function. All patients underwent sequencing of the SMARCAL1 gene. No pathogenic variant was identified in patient 1. Patient 2 was compound heterozygous for the splice variants c.1334+1G>A and c.1335-2A>C. Patient 3 was homozygous for the missense variant c.2425G>A (p.G809R). Patient 4 was homozygous for the frameshift variant c.1071delT (p.F357LfsTer26). Patient 5 was compound heterozygous for the variants c.445C>T (p.Q149X) and c.1933C>T (p.R645C). Among these, c.1334+1G>A, c.2425G>A, c.445C>T, and c.1933C>T are known pathogenic or likely pathogenic variants, while c.1335-2A>C and c.1071delT represent novel variants not previously reported in the literature. Conclusions SIOD presents with characteristic multisystem clinical features, yet exhibits marked phenotypic variability. The genotype-phenotype correlation remains poorly defined. Early diagnosis enables avoidance of unnecessary immunosuppressive therapies, including corticosteroids, and supports timely symptomatic management. Despite advances in supportive care, the overall prognosis remains poor.

Objective To explore the efficacy and prognostic factors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of high-risk acute T-lymphoblastic leukemia (T-ALL) in children, compare the efficacy differences of different treatment regimens, and explore the influence of pretreatment regimens on allo-HSCT in T-ALL patients. To compare the effects of two conditioning regimens, one containing cladribine (Cla) and the other without (fludarabine, Flu), in umbilical cord blood transplantation (UCBT), as well as the differences between this and the peripheral blood hematopoietic stem cell transplantation (PBSCT) based on total body irradiation (TBI). Methods A retrospective analysis was conducted on the clinical data of children with high-risk T-ALL who underwent allo-HSCT from February 2017 to March 2023. The Kaplan-Meier method was used to analyze the 3-year overall survival (OS) rate, leukemia-free survival (LFS) rate, cumulative incidence of chronic graft-versus-host disease (cGVHD), cumulative incidence of relapse (CIR), and cumulative transplant-related mortality (TRM) of the children. The Log-rank test was used to analyze the factors influencing the prognosis of high-risk T-ALL children. The differences in pre-treatment related toxic reactions, post-transplant infections, and 3-year OS rates among different pre-treatment regimens (UCBT-Cla group, UCBT-Flu group, and PBSCT-TBI group) were compared. Results Among the 23 children with high-risk T-ALL, 19 were boys (82.6%) and 4 were girls (17.4%), with a median age of 9.5 (1.9-14) years, and the median time from diagnosis to transplantation was 7.5 (6-29) months. Among the 23 high-risk T-ALL children, neutrophil engraftment was successfully achieved in all cases. The median time to engraftment was 18 (12 - 38) days for UCBT patients and 12 (11 - 15) days for PBSCT patients. The median time to platelet engraftment was 36 (27-61) days in UCBT recipients, with one case failing to achieve platelet engraftment; all PBSCT recipients achieved platelet engraftment, with a median time of 13 (9-25) days. Five children (21.7%) experienced grade ≥3 conditioning-related toxicities (primarily manifested as gastrointestinal reactions, oral mucositis, and infections), 14 had grade 1-2 toxicities, and 4 had no toxicities. No deaths occurred within 100 days post-transplantation among the 23 children. The incidence of grade Ⅲ-Ⅳ aGVHD was 26.1% (6/23). The 3-year cumulative incidence of cGVHD was (27.15 ± 13.33) %. Eighteen children (78.3%) experienced infections of varying severity and locations after transplantation, primarily pneumonia (10 cases), BK polyomavirus-associated hemorrhagic cystitis (7 cases), and invasive fungal infections (6 cases). The median post-transplant follow-up time was 34 (5-92) months. LFS was observed in 18 children, and 5 children died. The 3-year OS and LFS rate were both (77.5 ± 8.9) %. The 3-year CIR and TRM were (13.04 ± 7.19) % and (9.21 ± 6.4)%, respectively. The neutrophil and platelet engraftment times in the PBSCT-TBI group were significantly shorter than those in the UCBT-Cla and UCBT-Flu groups (P<0.05). No statistically significant differences were observed among the UCBT-Cla, UCBT-Flu, and PBSCT-TBI groups in terms of conditioning-related toxicities, incidence of aGVHD and cGVHD, post-transplant infections, or 3-year OS rate (P>0.05). The log-rank test revealed that central nervous system (CNS) involvement at initial diagnosis may be a high-risk factor affecting the overall survival (OS) of children with high-risk T-ALL (P<0.05). Age≥10 years, CNS involvement at initial diagnosis, pre-transplant disease status in second complete remission (CR2), and meeting the criteria for refractory leukemia may be high-risk factors for post-transplant relapse in high-risk T-ALL (P<0.05). Conclusions Allo-HSCT can effectively improve long-term survival in children with high-risk T-ALL and is associated with low TRM. CNS involvement at initial diagnosis is an important marker of poor prognosis. The cla-containing conditioning regimen in UCBT demonstrates potential for reducing relapse rates and improving survival outcomes. The Cla-containing conditioning regimen demonstrates potential in UCBT to reduce relapse rates and improve survival. The UCBT-Cla regimen may be a promising alternative option worthy of further investigation.

Objective Cardiovascular aneurysm is an extremely rare and serious complication of Behcet syndrome (BS) in children, lacking clinical specificity and with very few studies. This study aims to explore the clinical characteristics and treatment strategies of BS complicated with aneurysms in children. Methods A retrospective analysis was conducted on the clinical data of 3 children with BS complicated with aneurysms who were admitted to hospital from December 2018 to March 2023. Results A total of 36 children with BS were included during the same period, among whom 3 patients (8.3%) developed aneurysms, including 2 boys and 1 girl. The age range of BS onset was 5 to 13 years old, and the time of aneurysm discovery was 2 months to 5 years after the onset of BS. Two cases involved pulmonary artery aneurysms (PAAs) with in-situ thrombosis, while one had an aneurysm at the right coronary sinus of the aorta. All patients presented with concurrent vascular pathologies (deep vein thrombosis, pulmonary arterial thrombosis, and aortic dissection). At aneurysm detection, all exhibited fever and elevated inflammatory markers, with no gastrointestinal involvement. All three patients were treated with corticosteroids combined with immunosuppressants (cyclophosphamide/methotrexate) and biologics (TNF-α inhibitors/tocilizumab), among whom two patients received surgical intervention (left lower lobectomy in Case 1 and Bentall procedure in Case 2). Following medical therapy, Cases 1 and 3 achieved extravascular stability, but PAAs showed no regression. During corticosteroid tapering, Cases 1 and 2 experienced recurrence with new organ damage (Case 1 involved the nervous system, and Case 2 involved the skin, heart, and intestines). Conclusions In children with BS, pulmonary artery aneurysms are the most common type of arterial aneurysm involvement. The condition often has an insidious onset and is frequently associated with other vascular lesions. Regular vascular imaging screening is recommended for children with elevated inflammatory markers and no gastrointestinal involvement. Treatment should be individualized, potentially combining immunosuppressive therapy and surgical intervention, as some cases exhibit steroid dependence.

Objective To analyze the clinical characteristics and genetic phenotypes of children and adolescents with metastatic pheochromocytoma and paraganglioma (PPGL) at initial diagnosis and recurrence or metastasis. Methods A retrospective analysis was conducted on the clinical data, catecholamine levels, and genetic characteristics of 41 children and adolescents with metastatic PPGL at the initial diagnosis and after recurrence and metastasis, who were admitted to the hospital from January 2014 to October 2024. Results Hypertension was the most common manifestation at both the initial diagnosis (76.9%) and recurrence and metastasis (80.6%) of PPGL in children and adolescents. However, paroxysmal hypertension was more common at the initial diagnosis (56.7%), while persistent hypertension was more prevalent at recurrence and metastasis (80.0%), with a statistically significant difference (P=0.008). The incidence rates of headache, typical triad, nausea/vomiting, and fatigue were significantly different between the initial diagnosis and recurrence and metastasis stages (all P<0.05). Laboratory tests showed that abnormal urine catecholamines were most prominently characterized by elevated urine norepinephrine (NE) at both the initial diagnosis (86.5%) and recurrence and metastasis (90.3%), and the proportion of patients with two or more abnormal urine catecholamines was over 50% in both stages (54.1% and 54.8%, respectively). Lymph nodes were the most common site of recurrence and metastasis (68.3%), and 80.5% of the patients had two or more sites of recurrence and metastasis. 64.5% of the PPGL patients carried pathogenic gene variations, with SDHB mutations being the most common (45.2%). The median progression-free survival (PFS) of the group with clear gene variations was 42 months, significantly shorter than that of the group without detected gene variations (115 months), with a statistically significant difference (χ²=4.91, P=0.027). Conclusion Hypertension is the core manifestation of PPGL in children and adolescents at both the initial diagnosis and recurrence and metastasis stages, but the types of hypertension are significantly different. Recurrence and metastasis often present as multifocal and multi-site. Pathogenic gene variations may be related to the long-term prognosis of children, and further validation is needed through larger sample sizes and longer follow-up periods in future cohort studies.

Oxazolidinone antibiotics, due to their high antimicrobial activity against Gram-positive bacteria and Mycobacterium tuberculosis, are increasingly used in clinical practice, leading to a rise in off-label use. While substantial clinical research data exist in adult populations, pediatric evidence remains limited, with significant physiological and pharmacokinetic differences compared to adults. Addressing the rational use of these agents in pediatric patients has emerged as a critical clinical challenge. To address this, a multidisciplinary working group comprising experts in pediatric infectious diseases, critical care, hematology-oncology, and clinical pharmacy from 34 hospitals nationwide developed this consensus. The primary objectives are to standardize linezolid use in pediatric infections, emphasize therapeutic drug monitoring for precise administration, and provide recommendations for special populations (e.g., children with hepatic/renal dysfunction or ECMO therapy) as well as adverse event monitoring. This consensus aims to offer evidence-based decision support for clinicians and promote rational medication use in pediatric patients.

Neonatal acute kidney injury (AKI) predominantly occurs in critically ill infants, with an incidence rate of approximately 30% in neonatal intensive care units. It is associated with a significantly increased risk of mortality and a high propensity to progress to chronic kidney disease. This review mainly summarizes recent advances in the risk factors and emerging biomarkers for neonatal AKI. Besides, this review summarizes the clinical characteristics associated with different risk factors and the sensitivity and specificity of corresponding biomarkers. The occurrence of neonatal acute kidney injury is characterized by multifactorial interactions, and the pathological mechanisms vary depending on the underlying risk factors. The use of specific biomarkers facilitates early diagnosis and precise intervention. Combined monitoring of risk factors and biomarker levels enables early identification of acute kidney injury, guiding individualized treatment and prognosis assessment.

Objective White-Sutton syndrome (WHSUS) is a monogenic genetic disorder with significant phenotypic differences. This study aims to further expand the clinical phenotypic spectrum of WHSUS and explore potential treatment methods for improving symptoms. Methods A retrospective analysis was conducted on the clinical data of four WHSUS patients who visited Children's Medical Center from July 2018 to February 2023. Results The age range of the first diagnosis of the 4 patients was 1-9 years old, 2 boys and 2 girls, all of whom had delayed language and motor development. Patient 1, a girl, exhibited a previously unreported clinical phenotype, tethered cord syndrome (TCS), and concurrent insulin resistance. Patient 2, a girl, visited the doctor due to short stature and poor academic performance. She received growth hormone treatment for 3.5 years. At the age of 12 years and 1 month during the follow-up, her height was 152 cm (P₅₀), and her menstruation was normal. Patient 3, a boy, was treated for delayed language development. Patient 4 was a boy with delayed language development and autistic tendency. All four patients had de novo mutations in the POGZ gene and were diagnosed with WHSUS. Conclusions This study detailedly reported the clinical features of 4 patients with WHSUS, expanding the phenotypic spectrum of WHSUS. Meanwhile, it was the first to report the treatment attempt of growth hormone for a child with WHSUS and short stature, providing a new idea for the symptomatic treatment of this kind of disease.

As a conditional pathogenic fungus, invasive or disseminated Trichosporon asahii infection mostly occurs in immunodeficient patients, and cases involving the digestive system are relatively rare. This paper reports a rare case of disseminated Trichosporon asahii infection in a child without underlying diseases, mainly involving the gastrointestinal tract, liver and gallbladder, and abdominal lymph nodes. In October 2023, a 7-year-and-6-month-old male child was admitted to our hospital with "abdominal pain for 5 months, anemia accompanied by intermittent fever for more than 3 months". The main clinical manifestations were abdominal pain, anemia, and recurrent fever. Imaging, endoscopic, and pathological examinations indicated that the infection involved the liver and gallbladder, stomach, duodenum, and mesenteric lymph nodes. Multiple antifungal therapies were ineffective. Ultimately, Trichosporon asahii infection was confirmed by next-generation sequencing (NGS) of tissue pathogens. The patient's condition improved after receiving treatment with posaconazole and flucytosine. Patients without underlying diseases rarely develop disseminated Trichosporon asahii infections. In addition to fever, patients with digestive system infections may present with abdominal pain and jaundice. Those with gastrointestinal involvement may develop complications such as anemia and weight loss. Early diagnosis of this disease is difficult, and the mortality rate is high. Voriconazole is the first-choice treatment, and combination antifungal therapy can improve its efficacy.

The diagnosis and management of pediatric dizziness/vertigo represent a complex clinical challenge involving multiple disciplines. The primary difficulties stem from two key aspects: firstly, children's limited expressive ability often leads to unclear symptom description; and secondly, the vestibular-emotional-cognitive network interactions during development are more complex than in adults. Consequently, conducting appropriate psychological assessments for children with dizziness/vertigo, particularly when comorbid anxiety or depression is suspected, remains particularly challenging. This article integrates international evidence-based findings from the past decade with the author's clinical experience in multidisciplinary clinics to systematically analyze differences and blind spots in assessment objectives, tool selection, and referral timing among otolaryngology, neurology, and psychiatry/psychology departments. Current major issues include the inappropriate application of adult assessment scales in younger populations, insufficient recognition of emotional comorbidities, and inadequate inter-specialty communication. The paper proposes establishing a symptom duration-, frequency-, and functional impairment-based staged assessment model to balance underdiagnosis versus premature labeling of psychosomatic conditions. It recommends implementing a three-tier collaborative pathway of "neurology initial consultation - otology vestibular assessment - psychology consultation" and adopting a clinician-child-parent "triangular" communication approach to minimize information bias. Future work should focus on establishing nationwide multicenter norms for neuropsychological assessment and referral standards for pediatric dizziness/vertigo, thereby providing evidence-based foundation for developing Chinese expert consensus.

Objective To summarize and analyze the clinical and pathological characteristics and short-term outcomes of eight children diagnosed with concomitant IgA nephropathy (IgAN) and membranous nephropathy (MN). Methods This retrospective case series included eight pediatric patients with biopsy-proven IgAN+MN between January 2014 and December 2024. Clinical manifestations, laboratory findings, and renal histopathology were reviewed and summarized, and the results were compared with those reported in the literature. Results The cohort comprised eight children (4 boys and 4 girls), with a median age at onset of 7 years. The main clinical presentations were gross hematuria and/or proteinuria. Nephrotic syndrome occurred in 50% of patients, and hematuria was observed in 87.5%. Renal pathology predominantly demonstrated mesangial proliferative glomerulonephritis accompanied by early- to intermediate-stage membranous lesions. Immunofluorescence showed IgA deposition in the mesangium and IgG deposition along the glomerular basement membrane. All patients were treated with glucocorticoids in combination with immunosuppressive agents. Complete remission was achieved in all cases (100%), with a median time to remission of 2 months (range, 1-5 months). Conclusion Pediatric IgAN+MN shows overlapping clinical phenotypes of IgAN and MN. Treatment with glucocorticoids plus immunosuppressants appears to be highly effective, and short-term prognosis is favorable. Early diagnosis and active intervention may improve outcomes; however, long-term follow-up is needed to monitor relapse and chronic progression.

Single-sided deafness (SSD) refers to severe to profound sensorineural hearing loss in one ear, with normal or only mildly impaired hearing in the contralateral ear. Although affected children can maintain a certain level of daily communication through the normal-hearing ear, unilateral hearing presents significant limitations in sound localization and speech understanding in noisy environments. Over time, this can lead to delayed language development, reduced learning ability, and social difficulties. However, there is still insufficient awareness of SSD in children, and many children miss the critical window for intervention. This review summarizes the clinical manifestations and various intervention strategies for single-sided deafness in children, aiming to provide a reference for early diagnosis and clinical management.

Postoperative nausea and vomiting (PONV) is one of the most common complications following pediatric day surgery, with an incidence ranging from 70% to 80%. It significantly impacts patient comfort, recovery progress, and the efficiency of day surgery. With the widespread implementation of the day surgery model in pediatrics, the prevention and management of PONV have become a crucial component of perioperative care. However, factors such as the unique physiological characteristics of children, the diversity of surgical procedures, and the current lack of standardized prevention and management strategies necessitate the systematic integration of existing evidence to guide clinical practice. This review aims to summarize the latest advancements in risk factors, assessment tools, pharmacological and non-pharmacological preventive measures for PONV in pediatric day surgery. It also explores the value of multimodal combined prevention strategies in optimizing PONV management. The goal is to provide scientific and standardized references for clinical practice, thereby improving the surgical experience and recovery quality for pediatric patients.

Objective To construct latency-age function curves of waveⅤin bone-conducted auditory brainstem responses (BC-ABR) across different ages in normal-hearing infants and young children, thereby providing a reference for clinical assessment of BC-ABR thresholds. Methods Infants and young children with normal hearing who visited the Hearing Impairment and Vertigo Diagnosis and Treatment Center from January 2019 to December 2022 were selected as the research subjects. BC-ABRs were recorded at two stimulus intensities (30 dB nHL and threshold level) using click stimuli. The age-latency function model of infants and young children with normal hearing was established, and the Bland-Altman method was used to verify the model. Results A total of 210 infants and young children (410 ears) were included during the study period, including 113 boys (222 ears) and 97 girls (188 ears), with a median age of 5 (3-8) months. Among them, there were 126 ears in the 0-3 months age group, 168 ears in the 4-6 months age group, 66 ears in the 7-12 months age group, and 50 ears in the 13-36 months age group. Significant differences in wave Ⅴ latency were observed among different age groups under both 30 dB nHL and threshold stimulation (P<0.05). The latency-age function model at 30 dB nHL was: Y1=7.227+2.563×e^-0.1596×x, with R²=0.44, and at threshold intensity: Y2=8.171+2.739×e^-0.1432×x, with R²=0.33, where x is age in months. Bland-Altman analysis showed that the proportions of differences between measured and predicted values falling outside the 95% limits of agreement were 3.6% (4/110) and 2.7% (3/110), respectively. Conclusions Wave Ⅴ latency of BC-ABR shortens progressively with increasing age in infants and young children. The latency-age function models established in this study may serve as useful references for clinical applications.

Objective To investigate the clinical characteristics of Chlamydia pneumoniae pneumonia in children and enhance awareness, diagnostic accuracy, and therapeutic management of this condition. Methods A retrospective analysis was performed on clinical data from children diagnosed with Chlamydia pneumoniae pneumonia admitted to the Department of Respiratory Medicine between July 2024 and May 2025. Results A total of 39 patients were included, comprising 20 males and 19 females, with a median onset age of 10.9 years (interquartile range: 7.8-12.5). The mean duration of illness prior to admission was (11±5) days, and the median hospital stay was 6 days (range: 4-6). All patients presented with cough; fever, chest pain, and chest tightness were observed in some, while only a few exhibited abnormal pulmonary auscultation findings. Chest CT revealed round high-density opacities or patchy consolidations, predominantly subpleural in distribution. Air bronchograms and halo signs were noted in a subset of cases. Unilateral lung involvement occurred in 34 patients, bilateral in 5. Laboratory findings showed normal white blood cell count, neutrophil percentage, procalcitonin, and IL-6 levels. Elevated C-reactive protein was present in 12.8% of patients, increased erythrocyte sedimentation rate in 50%, and elevated IL-10 in 73.7%. All 39 patients had positive serum IgM antibodies against Chlamydia pneumoniae; among them, 7 had positive Chlamydia pneumoniae nucleic acid detected by next-generation sequencing in bronchoalveolar lavage fluid, and 1 had a positive nucleic acid test in sputum obtained from an outside institution. Most patients received azithromycin monotherapy, followed by doxycycline; 5 patients additionally received glucocorticoids. Clinical recovery was achieved in all 36 follow-up cases. Conclusions Pediatric Chlamydia pneumoniae pneumonia may manifest without fever, with cough as the sole presenting symptom. Characteristic imaging features include subpleural, mass-like consolidations often accompanied by peripheral air bronchograms and occasionally halo signs. Definitive diagnosis relies on serological IgM detection or nucleic acid testing. Treatment with azithromycin or doxycycline is effective.

Objective To investigate the clinical features, diagnosis, treatment, and prognosis of the rare complication of infectious endocarditis (IE) in children with Mycoplasma pneumoniae pneumonia (MPP), aiming to enhance clinicians' understanding and facilitate early diagnosis of this condition. Methods A retrospective analysis was conducted on the clinical data of 5 children with MPP complicated by IE admitted to our hospital from January 2023 to November 2024. The analysis included clinical manifestations, laboratory tests, imaging findings, etiological test results, treatment, and follow-up information. Results The median age of onset was 9 years (5-9.5) years, with a male-to-female ratio of 3:2. All patients presented with fever and cough; only one exhibited concomitant subxiphoid pain. Median duration of fever was 12 (9.5-15) days, and vegetations were detected on echocardiography at a median of 10 (8-12) days after disease onset. Elevated D-dimer levels 5.09 (4.35-7.9) μg/mL and fibrin degradation products 10.56 (7.2-24.71) mg/L indicated marked hypercoagulability, while increased IL-6 55.45 (33.02-95.56) pg/mL and lactate dehydrogenase 746 (568.45-838.9) U/L suggested significant systemic inflammation and tissue injury. All children tested positive for MP nucleic acid in respiratory specimens; however, only one had MP DNA detected in blood via metagenomic next-generation sequencing (mNGS). All underwent surgical excision of vegetations, with histopathological examination confirming the diagnosis of IE. Postoperatively, all received antimicrobial therapy and anticoagulation. Among them, three patients with confirmed pulmonary embolism continued long-term anticoagulation for 1-6 months post-discharge. Follow-up echocardiography revealed no vegetation recurrence, and no patient reported symptoms such as dyspnea, chest pain, or wheezing during the monitoring period. Conclusion MPP-related IE presents with nonspecific and often insidious early manifestations, posing challenges for timely diagnosis. In pediatric patients with MPP and evidence of hypercoagulability, routine echocardiographic screening is strongly recommended to enable early detection of IE and prevent diagnostic delays. With prompt diagnosis and comprehensive management, the prognosis is favorable.

Objective To investigate the factors influencing weight catch-up growth in very preterm infants (VPIs) from discharge to corrected age 6 months. Methods A retrospective analysis was conducted on 124 VPIs (gestational age <32 weeks) admitted to the Department of Neonatology between August 2019 and June 2022. Catch-up growth was defined as Z-score of weight-for-age (WAZ) increase of ≥0.67 from discharge to corrected age 6 months. Infants were divided into catch-up and non-catch-up groups on this criterion. A forward stepwise logistic regression model was used to identify independent predictive factors. Results Among the 124 VPIS, there were 70 males (56.5%), with a median gestational age of 30.14 (28.86-31.11) weeks, birth weight of 1330.0 (1170-1607) g, birth WAZ of 0.10 ± 0.61, and a catch-up growth rate of 62.1% (77/124) at corrected 6 months. Compared to the non-catch-up infants, the catch-up group exhibited significantly lower birth weight, WAZ at day 7, day 14 and discharge, and serum alkaline phosphatase (ALP) at corrected 40 weeks (P<0.05), while showing longer hospital stay, greater postmenstrual age at discharge, and higher daily weight gain post-discharge (P<0.05). Multivariate regression analysis identified multiple pregnancy (OR=0.294, 95%CI: 0.088-0.982), hospital stay (OR=1.082, 95% CI: 1.032-1.134), WAZ at discharge (OR=0.385, 95%CI: 0.167-0.890), daily weight gain post-discharge (OR=1.928, 95% CI: 1.483-2.506), and ALP at corrected 40 weeks (OR=0.995, 95% CI: 0.990-0.999) as independent influencing factors for post-discharge catch-up growth. Conclusion Post-discharge weight catch-up growth in VPIs is synergistically modulated by multiple pregnancy, WAZ at discharge, growth rate post-discharge, hospital stay duration and ALP at corrected 40 weeks.

Objective Comorbid autonomic nervous system dysfunction affects the overall prognosis of children with Guillain-Barré syndrome (GBS), whereas systematic research on the course of autonomic nervous system dysfunction and the process of neurological function recovery in these children remains scarce. This study aims to investigate the clinical characteristics and neurological function recovery of GBS children complicated with autonomic nervous system dysfunction. Methods A retrospective analysis was conducted on the clinical data of children with GBS who visited Wuhan Children’s Hospital, Tongji Medical College from May 2017 to August 2023. The children were divided into two groups, with and without autonomic dysfunction, and a comparative analysis of key clinical indicators between the two groups were conducted. Results A total of 92 children with GBS were enrolled, including 58 boys (63.0%), with a median age of 5.0 (3.4-8.4) years. None of the children presented with autonomic nervous system dysfunction as the initial symptom. Autonomic nervous system dysfunction developed in 40 cases (43.5%) during the disease course, with the median time from disease onset to the occurrence of autonomic nervous system dysfunction being 9 (4-13) days. Cardiovascular complications were the most common autonomic symptoms, including 16 cases of tachycardia, 12 cases of arrhythmia, 5 cases of hypertension, 4 cases of atrioventricular block, 3 cases of orthostatic hypotension, and 2 cases of bradycardia. Other symptoms included 4 cases of diarrhea, 2 cases of constipation, 7 cases of urinary retention, and 3 cases of hyperhidrosis. Compared with GBS children without autonomic nervous system dysfunction, those with this complication had significantly higher proportions of assisted ventilation requirement and combined immunotherapy plus plasma exchange, longer hospital stays, and longer time to recovery of independent ambulation (P<0.05). Autonomic nervous system function recovered within 3 months in all children. At the 3-month follow-up, among all children with abnormal nerve conduction, only 39.0% (30/77) achieved recovery of nerve conduction velocity, while the recovery rate of clinical symptoms was 67.5% (52/77). Conclusions Autonomic nervous system dysfunction affects the treatment and prognosis of children with Guillain-Barré syndrome (GBS). However, autonomic nervous system dysfunction in these children achieves a favorable recovery, and its recovery time precedes that of nerve conduction impairment.

Inflammatory bowel disease (IBD) is a chronic, recurrent inflammatory disease involving the entire gastrointestinal tract. Nutrient deficiencies are common in IBD patients, and zinc, as an important nutrient for the body to maintain the physiological cellular functions, is widely recognized as beneficial in the treatment of many gastrointestinal diseases. In recent years, research on the mechanism of zinc and IBD has been emerging continuously. More and more studies have revealed that zinc deficiency is common among children with IBD. Zinc deficiency is associated with disease recurrence in children with IBD, as well as the occurrence of complications such as malnutrition, growth retardation, and anemia. This article will review the progress of basic and clinical researches related to zinc and IBD, providing references for the mechanism research and optimized treatment of IBD.

Takotsubo cardiomyopathy in children is an acute, reversible form of cardiomyopathy characterized by transient left ventricular systolic dysfunction. It exhibits distinct epidemiological, etiological, and clinical features compared to the adult population, with differences also evident in management strategies and prognostic outcomes. Although the incidence in pediatric patients is low, the condition is associated with substantial mortality. Neurological disorders are frequently identified as precipitating factors in this age group. Catecholamine excess is considered a central mechanism in the pathophysiology of the disease. Clinical presentation may mimic that of fulminant myocarditis, dilated cardiomyopathy, or sepsis-induced myocardial dysfunction, posing significant diagnostic challenges. Accurate differentiation among these entities is critical for optimizing patient outcomes. Echocardiography serves as a pivotal diagnostic tool, enabling real-time evaluation of regional wall motion abnormalities and ventricular morphology essential for differential diagnosis. This article aims to review key aspects of Takotsubo cardiomyopathy in children, clarify current understanding of its clinical spectrum, and enhance awareness and diagnostic precision among pediatric clinicians.

Objective To investigate the clinical features, therapeutic strategies, and outcomes in pediatric patients with severe Mycoplasma pneumoniae pneumonia (SMPP) complicated by intracardiac thrombosis. Methods A retrospective analysis was performed on the clinical records of 19 children diagnosed with SMPP and concurrent intracardiac thrombosis admitted between January 2020 and May 2024. Results Among the 19 children, 13 were boys and 6 were girls, with a median age of 8 (7-10) years. All children presented with fever and cough, and 11 (57.89%) exhibited additional extracardiac thrombotic events. Laboratory findings revealed elevated levels of C-reactive protein 58.91 (25.62-98.19) mg/L, lactate dehydrogenase 559 (442-791) U/L, and D - dimer 6.06 (3.44-7.52) mg/L. The median time from symptom onset to diagnosis was 12 (10-17) days, with all thrombi identified via echocardiography; the majority (n=14, 73.69%) were located in the right ventricle. Six patients underwent immediate surgical intervention due to hemodynamic instability (shock), large thrombus size (diameter>30 mm), or presence of multiple mobile thrombi with high embolic risk. Thirteen patients initially received anticoagulation therapy; seven showed marked reduction in thrombus burden, while one experienced embolization during early treatment and five required conversion to surgical thrombectomy due to inadequate response. During follow-up (3-5 months), none of the 11 surgically treated patients developed new thromboses or cardiac complications. Among the 8 non-surgical cases, 6 achieved complete thrombus resolution within 3 months, while one patient was lost to follow-up and one experienced embolization.Conclusion Pediatric SMPP with intracardiac thrombosis presents with nonspecific symptoms and carries a significant risk of systemic embolization. Dynamic monitoring of echocardiography and D-dimer levels during the first 1-2 weeks of illness is recommended for early detection. Prompt anticoagulant or surgical management is associated with favorable outcomes; however, therapeutic decisions should be individualized based on thrombus morphology, hemodynamic status, and embolic risk.

A retrospective analysis of the clinical manifestations, laboratory indicators, endoscopic pathology, and lymphoscintigraphy characteristics of a 5-year-7-month-old child with Primary Intestinal Lymphangiectasia (PIL) was conducted, along with a follow-up of treatment outcomes. The child presented with symptoms of diarrhea, abdominal bloating, and tetany in hands and feet. Laboratory tests revealed severe hypoalbuminemia (16.4 g·L^-1), low IgG (2.32 g·L^-1), lymphocytopenia (0.82×10⁹/L), and hypocalcemia with hypomagnesemia. Imaging studies indicated multiple serous effusions, and gastrointestinal endoscopy showed diffuse white, snowflake-like substances on the mucosa of the duodenum and terminal ileum. Pathology demonstrated lymphatic dilation with inflammatory cell infiltration. Characteristic findings from ⁹⁹Tc^m-DX lymphoscintigraphy indicated persistent imaging of the left venous angle, suggesting obstruction at the thoracic duct outlet. Treatment with a low-fat, high-protein, high-medium-chain triglyceride (MCT) diet combined with albumin infusion led to a significant increase in albumin levels to 26.8 g·L^-1 after 7 days, with a marked alleviation of symptoms. The main clinical manifestations of primary intestinal lymphangiectasia in children include diarrhea, abdominal bloating, edema, hypoproteinemia, and electrolyte disturbances. Lymphoscintigraphy confirmed the key pathological mechanism of thoracic duct obstruction, providing a reliable imaging basis for the etiological diagnosis of the disease.

Objective To summarize the diagnosis and treatment process of a pediatric patient with rare TTMV::RARA fusion gene-positive acute promyelocytic leukemia (APL), and to explore the disease's clinical characteristics, treatment, and prognosis. Methods A retrospective analysis was conducted on the clinical data of a child with TTMV::RARA fusion gene-positive APL admitted in January 2024, and the relevant literature was reviewed. Results The patient, a 13-year-old girl, initially presented with abnormal hematopoiesis (white blood cell count 20.29×10⁹/L, hemoglobin 76 g/L, platelet count 76×10⁹/L) and bone pain. A diagnosis of APL with TTMV::RARA fusion positivity accompanied by an SF3B1 mutation was confirmed via MICM (Morphology, Immunology, Cytogenetics, Molecular biology) classification. The patient received personalized intensive therapy, which consisted of induction with all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO), along with intensified chemotherapy including cytarabine (Ara-C) and mitoxantrone (MTZ). Subsequently, autologous peripheral blood hematopoietic stem cell transplantation (APBSCT) was performed during consolidation chemotherapy, and multiple cycles of maintenance treatment were received after the transplantation. As of July 2025 (11 months post-transplant), the patient remains in sustained molecular remission (TTMV::RARA digital PCR-negative), with a disease-free survival (DFS) of 14 months. This article includes 9 cases from literature reports and 1 case from the current study, totaling 10 cases. There were 5 boys and 5 girls, with a median age of 7.5 (2 to 17) years. These children showed initial sensitivity to the treatment regimen of ATRA combined with ATO. The outcomes of the 10 pediatric patients were as follows: The patient did not undergo transplantation, remained in remission for 6 months after chemotherapy, but subsequently experienced two relapses and ultimately succumbed to disease progression; one patient underwent APBSCT during the first complete remission (CR1) and remained in continuous remission; four patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) after achieving CR1, among whom two remained in continuous remission, one experienced relapse, and one died (due to non-relapse causes); four patients received allo-HSCT during the second complete remission (CR2) after relapse, among whom two remained in continuous remission, one experienced relapse, and one died. Conclusions For patients with morphologically consistent APL who test negative for both PML::RARA and its variant fusions, rare fusion genes such as TTMV should be screened as early as possible using techniques like transcriptome sequencing (RNA-seq). TTMV::RARA fusion gene positive APL usually indicates a poor prognosis. It is recommended to use ATRA+ATO combined intensive chemotherapy and perform allo-HSCT as soon as possible. For those who do not have the conditions, APBSCT can be considered to achieve deep and sustained remission.

Objective This study aimed to analyze the clinical manifestations, coronary artery lesion (CAL) features, and independent risk factors/predictive indicators for intravenous immunoglobulin (IVIg) non-response in infants with Kawasaki disease (KD) under 6 months of age. Methods A retrospective analysis was performed on clinical data of 435 KD infants aged 0-12 months who were hospitalized January 2020 to December 2024. Patients were stratified into the 0-5 months group (under 6 months) and 6-12 months group; the 0-5 months group was further subdivided into incomplete KD (iKD) and complete KD (cKD) subgroups. Differences in core clinical characteristics between the 0-5 months and 6-12 months groups were analyzed, and phenotypic variations between the iKD and cKD subgroups were compared. Multivariate logistic regression was used to identify risk factors for CAL and IVIg non-response in the 0-5 months group. Receiver operating characteristic (ROC) curves were constructed to evaluate the predictive efficacy of candidate variables for IVIg non-response. Results A total of 179 patients (41.1%) were included in the 0-5 month group. Compared with the 6-12 months group, the 0-5 months group exhibited a significantly higher incidence of Bacille Calmette-Guérin (BCG) scar erythema/swelling and elevated inflammation-related markers such as platelet count, alongside lower frequencies of typical KD symptoms like conjunctival hyperemia and reduced albumin/hemoglobin levels. The incidence of CAL was also higher in the 0-5 months group (47.5%; all P<0.05). Within the 0-5 months group, 73 patients (40.8%) were diagnosed with iKD, presenting fewer typical symptoms, a higher CAL incidence (58.9%), and a higher IVIg non-response rate than the cKD subgroup (all P < 0.05). Multivariate regression revealed that BCG scar erythema/swelling was independently associated with an increased risk of CAL (OR=2.81, 95% CI: 1.44-5.48, P=0.002). Conjunctival hyperemia was inversely correlated with IVIg non-response (OR=0.15, 95% CI: 0.03-0.89, P=0.036), while a neutrophil-to-lymphocyte ratio (NLR)≥3.78 (OR=3.17, 95% CI: 1.37-7.31, P=0.007) and fever duration≥6.5 days (OR=1.38, 95% CI: 1.03-1.84, P=0.029) were identified as independent risk factors for IVIg non-response. The combined model of NLR≥3.78 and fever duration≥6.5 days yielded an area under the ROC curve (AUC) of 0.888 for predicting IVIg non-response, with a sensitivity of 0.867 and specificity of 0.841. Conclusions KD infants under 6 months of age often present with atypical manifestations. iKD in this age group is associated with a higher incidence of CAL and IVIg non-response. BCG scar erythema/swelling is closely linked to CAL development. The combination of NLR≥3.78 and fever duration≥6.5 days has robust predictive value for IVIg non-response, while conjunctival hyperemia may facilitate the early identification and management of IVIg-nonresponsive KD in infants under 6 months.

This review aims to systematically evaluate the therapeutic role of infliximab in patients with Kawasaki disease (KD) who are resistant to intravenous immunoglobulin (IVIG), with a focus on its mechanism of action, clinical efficacy, and safety profile. By synthesizing recent advances in both domestic and international research, we provide a comprehensive assessment of the benefits and current limitations of infliximab therapy. Evidence indicates that infliximab significantly shortens fever duration, reduces levels of inflammatory biomarkers, and lowers the risk of coronary artery lesions. As understanding of the etiology and immunopathogenesis of KD continues to evolve, infliximab is emerging as a promising therapeutic option for IVIG-resistant cases. This review highlights its potential to inform optimized clinical management strategies and improve long-term outcomes in affected patients.