Spinal muscular atrophy (SMA) is a common fatal and disabling neuromuscular disease in infants and young children, caused by the degeneration of spinal anterior horn motor neurons, leading to progressive muscle weakness and atrophy in the limbs. In recent years, the emergence and application of disease-modifying therapies are gradually changing the natural history of SMA. However, the efficacy of these therapies is closely related to factors such as the age at treatment initiation and the pre-treatment disease course. Pre-symptomatic treatment is more promising to enable the affected children to survive and achieve near-normal motor milestones. This consensus was developed by experts from relevant fields, focusing on the following themes: pre-symptomatic SMA diagnosis, treatment decision-making, follow-up management, and key points for parental communication, with the aim of providing standards and guidance for clinical practices of pre-symptomatic treatment of pediatric SMA.

Nocturnal enuresis is a common disease in childhood, which can be harmful to the children’s physical and psychological well-being. Standardized diagnosis and therapeutic approaches are very important for the efficacy and prognosis of enuresis. In recent years, with the accumulation of domestic and foreign clinical research evidence and the application of new diagnostic and therapeutic concepts, it is of great clinical significance to update and improve the consensus on the diagnosis and treatment of enuresis. Therefore, Chinese Cooperative Group for the Management of Pediatric Enuresis Affiliated to Pediatric Nephrology Committee of Chinese Medical Doctor Association has revised and updated the 2014 version of the "Expert Consensus on the Management of Monosymptomatic Nocturnal Enuresis in Chinese Children" based on the latest domestic and international evidence-based rationales and combined with clinical experience. The definition has been revised in accordance with international authoritative guidelines, and the diagnosis process and standardized terminology has been enhanced. The content of medical history collection has been updated to emphasize the differentiation of other diseases and comorbidities, and the recording method of the voiding diary has been revised to improve compliance. For monosymptomatic enuresis, the dosage adjustment and discontinuation plan of desmopressin have been added, and the specific dosage recommendations for second-line drug treatment have been refined. Additionally, a new section on non-monosymptomatic enuresis has been introduced, including treatment strategies and pharmacologic interventions. This consensus recommendations in a problem-oriented manner, delivering more comprehensive and structured guidance for the management of nocturnal enuresis.

Objective To analyze the clinical characteristics and genetic variations in 8 children with metachromatic leukodystrophy (MLD), and to explore the correlation between genotype and clinical phenotype as well as the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The study collected data from children diagnosed between 2013 and 2024, confirmed through whole exome sequencing, and found that all children had symptoms such as developmental delay, with ages at diagnosis ranging from 1 year and 3 months to 9 years and 6 months. Results Based on the age of onset and clinical manifestations, 4 cases were late infantile type, with 2 deaths; 4 cases were juvenile type, with a survival rate of 100%. Genetic sequencing revealed compound heterozygous variations in the ARSA gene, a total of 15 mutations, of which 3 were newly reported and all were deleterious variations. Three children received allo-HSCT treatment and all survived but with progression of symptoms. Conclusion MLD mainly manifests as central nervous system damage, and diagnosis should be confirmed in combination with clinical manifestations, ARSA enzyme activity, and genetic testing. Early diagnosis and treatment are crucial for improving prognosis, and allo-HSCT can increase survival rates, but the therapeutic effect is limited.

Febrile infection-related epilepsy syndrome (FIRES) is a rare and catastrophic epileptic encephalopathy that predominantly affects school-aged children.Characterized by a biphasic clinical course, FIRES manifests as rapid progression to refractory status epilepticus following a preceding febrile infection. The prognosis of FIRES is dismal: the acute-phase mortality rate is approximately 10%, and survivors often develop chronic refractory epilepsy and cognitive impairment. The pathogenesis of FIRES remains unclear, but neuroinflammation involving cytokines such as IL-6 may play a key role. Tocilizumab, a humanized monoclonal antibody targeting the IL-6 receptor, exerts anti-inflammatory effects by blocking IL-6 signaling. For FIRES patients unresponsive to conventional anti-seizure medications (ASMs), first-line immunotherapies, or ketogenic diet, tocilizumab is currently recommended as a second-line immunotherapeutic option. This review summarizes the background, mechanisms, clinical applications, safety profile, and challenges associated with tocilizumab in FIRES management, aiming to update clinicians on the latest advances in this field..

Objective To investigate the clinical efficacy of disease-modifying therapies (DMTs) in spinal muscular atrophy (SMA) patients with SMN1 gene compound heterozygous variants. Methods A retrospective analysis was performed on two cases with SMN1 compound heterozygous SMA, including clinical data, treatment approaches, and prognosis. Clinical findings were contextualized through a systematic literature review of analogous cases. Results Two SMA type I patients exhibited SMN1 compound heterozygous: a 4-year-old male (Patient 1) with exon 7 heterozygous deletion and c.188C>A variation, and a 1.7-year-old female (Patient 2) with exon 7 heterozygous deletion and c.683T>A variation. Patient 1 initiated rehabilitation at 7 months of age, received nusinersen treatment at 1 year and 6 months, added risdiplam as combination therapy at 3 years, and discontinued rehabilitation at 3 years and 10 months. Following DMTs, the patient showed slow progress in motor function, acquiring the ability to roll over to the side and sit with support, and is currently able to sit with assistance. Patient 2 started rehabilitation at 4 months of age, received risdiplam at 7 months, and switched to nusinersen treatment at 1 year and 5 months due to persistent darkening of skin color. The combination of DMTs and rehabilitation resulted in significant improvement in the patient's motor function, achieving milestones such as sitting independently and standing with support. Currently, she can stand independently for 7-8 seconds and take steps. Conclusion DMTs can improve the overall prognosis of children with compound heterozygous SMA and enhance their motor function.

Objective To report the use of tocilizumab in 2 cases of children with febrile infection-ralated epilepsy syndrome (FIRES), and provide a reference for its therapeutic application. Methods A retrospective analysis was conducted on the clinical manifestations, diagnostic and treatment processes, and therapeutic responses to tocilizumab in two FIRES patients admitted to the pediatric intensive care unit of our hospital in 2023, and the relevant literatures were reviewed. Results Neither patient responded to multiple antiepileptic drugs, anesthetics, ketogenic diet therapy, or first-line immunotherapy (high-dose methylprednisolone and high-dose intravenous immunoglobulin). Following second-line immunotherapy with tocilizumab, epileptic seizures were effectively controlled without adverse reactions. After 4-6 months of follow-up, one patient experienced recurrence of epileptic seizures. Conclusions Tocilizumab demonstrates efficacy as a second-line immunotherapy for FIRES, with good tolerability, and represents a promising treatment option.

Objective To analyze the genetic polymorphism of antigenic genes and antimicrobial resistance phenotypes of Bordetella pertussis (BP) in Fuzhou and Youxi, Fujian Province, China, and to provide scientific evidence for optimizing vaccination strategies and antibiotic use. Methods A total of 336 nasopharyngeal swab specimens from suspected pertussis cases were collected from both regions in 2024. Bacterial culture, isolation, and identification were performed. Polymorphism and mutations were determined by analyzing seven antigenic genes (ptxP, ptxA, ptxC, prn, fim3, fim2, tcfA) and the 23S rRNA A2047 locus. A maximum-likelihood phylogenetic tree was constructed based on core-genome single nucleotide polymorphisms (cgSNPs). The minimum inhibitory concentrations (MICs) of macrolides, sulfonamides, and β-lactams were determined using the E-test method. Results Twenty-nine BP clinical isolates were successfully obtained (8.6%, 29/336). Antigenic gene profiling revealed that the predominant genotype was ptxP3/prn2/ptxC1/ptxA1/fim2-1/fim3-1/tcfA2 (55.2%, 16/29), with ptxP3/prn2/ptxA1 strains accounting for 72.4% (21/29). Four prn150 mutant strains were identified (13.8%, 4/29). Phylogenetic analysis demonstrated that the vaccine strain CS formed an independent evolutionary branch (Cluster A). The 2024 Fujian isolates exhibited significant genetic divergence from pre-2020 domestic strains, forming two major clusters: Cluster B (ptxP3/prn2/ptxA1, containing most Fujian isolates) and Cluster C (ptxP1/prn1/ptxA1, comprising historical isolates). The 23S rRNA A2047G mutation conferring macrolide resistance was detected in all isolates, with MICs > 90 mg/L. MICs for TMP-SMX ranged from 0.005 to 0.45 mg/L. MICs for β-lactams (ceftriaxone, cefotaxime, cefoperazone/sulbactam) ranged from 0.004 to 0.64 mg/L. Conclusion The epidemic strains of BP circulating in Fujian exhibit distinct antigenic gene evolutionary patterns and widespread macrolide resistance. These findings highlight the urgent need to strengthen molecular genotyping-based surveillance of vaccine components and optimize antimicrobial therapy based on susceptibility profiles.

Objective To analyze the clinical characteristics of pertussis in children and explore the independent risk factors for pertussis complicated by ordinary pneumonia and severe pneumonia. Methods A retrospective cohort study was conducted on the clinical data of 708 children hospitalized with pertussis in our hospital from August 2021 to June 2024. Patients were divided into three groups: pertussis without pneumonia (n=306), pertussis with ordinary pneumonia (n=316), and pertussis with severe pneumonia (n=86). Baseline clinical characteristics and laboratory indicators upon admission were compared. Multinomial logistic regression analysis (with the non-pneumonia group as the reference) was used to identify independent factors associated with ordinary and severe pneumonia. Results Among the 708 children, 400 were male (56.5%) and 308 were female (43.5%), with a median age of 4 months (1 month - 4 years), infants≤3 months accounted for 46.3%. The co-infection rate was 68.50%, with rhinovirus being the most common. Significant differences were found among the three groups in age, fever, underlying diseases, DTP vaccination status, WBC count, LYM% and Bordetella pertussis cycle threshold (BP-C_t) values (P<0.05). Post-hoc comparisons showed significant differences in these indicators for the severe pneumonia group compared to the other two groups, whereas no significant differences were observed between the ordinary pneumonia and non-pneumonia groups. Multinomial logistic regression analysis showed no statistically significant independent predictors for distinguishing ordinary pneumonia from non-pneumonia (P>0.05). However, for severe pneumonia, fever (OR=10.601, 95%CI: 5.235-21.466), underlying diseases (OR=5.576, 95%CI: 2.651-11.726), low BP-C_t value (high bacterial load) (OR=5.174, 95%CI: 1.911-14.005), and WBC>30×10⁹/L (OR=3.371, 95%CI: 1.520-7.474) were identified as independent risk factors. Conclusion Pneumonia is a common complication in hospitalized children with pertussis. While ordinary pneumonia is clinically difficult to distinguish from uncomplicated pertussis in the early stages, fever, underlying diseases, high bacterial load (low BP-C_t), and hyperleukocytosis serve as early warning indicators for the progression to severe pneumonia.

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 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.

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 To observe the efficacy and prognosis of hematopoietic stem cell transplantation (HSCT) in the treatment of inherited bone marrow failure syndromes (IBMFs) in children. Methods The clinical data of children with IBMFs who underwent HSCT in the First Affiliated Hospital of Zhengzhou University from January 2019 to November 2023 were collected, and their clinical characteristics, transplantation preconditioning regimen, hematopoietic reconstruction, and prognosis were analyzed. Results A total of 18 children with IBMFs were enrolled, including 7 cases of Fanconi anemia (FA), 5 cases of dyskeratosis congenita (DKC), 3 cases of Diamond-Blackfan anemia (DBA), 2 cases of congenital amegakaryocytic thrombocytopenia (CAMT) and 1 case of severe congenital neutropenia (SCN). There were 10 boys and 8 girls, with a median age of 8.2 (1.2-14.0) years. The median time of neutrophil engraftment was 11 (9-21) days, and the median time of platelet engraftment was 13 (10-30) days. During the median follow-up of 10.6 （1.0-62.9） months, the bone marrow of 18 patients was completely chimeric. A total of 8 patients developed acute graft-versus-host disease (GVHD), including 2 cases of grade Ⅳ, 2 cases of grade Ⅲ, 1 case of grade Ⅱ, and 3 cases of grade Ⅰ. Two children suffered from mild chronic GVHD. Fifteen patients survived and 3 died. Two children with FA developed transplant-related thrombotic microangiopathy, and they were treated with plasma exchange or defibrotide with poor results, and all died of multiple organ failure. One CAMT patient developed a severe pulmonary infection 28 days after transplantation, and his condition progressed rapidly, ultimately leading to respiratory failure. Conclusions HSCT is an effective method for the treatment of IBMFs in children. According to the different diseases of children with IBMFS, the appropriate preconditioning regimen can be selected to obtain a better curative effect and prognosis.

Objective To summarize the genetic clinical manifestations and mutation typing of 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations, enriching the understanding of the genotype-phenotype correlation of this disease and promoting the understanding of this disease by clinicians. Methods A retrospective collection of clinical data from 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations treated at Hospital from November 2015 to June 2024 was conducted. The genetic and clinical characteristics were analyzed, and a literature search was performed to summarize the relationship between the reported types of ATP1A2 and ATP1A3 gene mutations and their clinical manifestations. Results This study included 10 pediatric patients (3 girls and 7 boys), and the age of onset ranged from birth to 14 years old. Three children had onset with convulsions, 2 with muscle weakness, 1 with hemiplegia, 1 with alternating hemiplegia, 1 with attention deficit disorder accompanied by enuresis, 1 with convulsions combined with muscle weakness, and 1 with language and motor disabilities. Genetic testing identified ATP1A2 mutations in 3 cases and ATP1A3 mutations in 7 cases, all of which were point mutations. The mutation sites c.587G>A(p.Arg196His) and c.2841-2A>C in the ATP1A2 gene (NM_000702.3), as well as c.1013C>T(p.Ala338Val) and c.2426C>A(p.Ala809Asp) in the ATP1A3 gene (NM_152296.4) have not been previously reported. Conclusions The newly discovered mutations enrich the mutation spectrum of ATP1A2 and ATP1A3 genes and their clinical manifestations. Meanwhile, it suggests to clinicians that for diseases presenting initially with neurological symptoms such as epilepsy, muscle weakness, and hemiplegia, if the treatment outcome is suboptimal, gene testing should be promptly carried out to establish a definite diagnosis.

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.

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 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 Acquired facial hyperpigmented macules (AFHM) in children are localized to the face, affecting aesthetics and often causing concern and anxiety among parents. However, due to insufficient clinical awareness, misdiagnosis and missed diagnosis are not uncommon. This study aims to summarize the clinical and dermoscopic features of AFHM to improve clinicians' understanding of this condition. Methods A retrospective study was conducted, collecting clinical data from 54 pediatric patients diagnosed with AFHM at the Dermatology Department of Hospital between November 2021 and June 2023. The clinical manifestations, including patient demographics, rash characteristics, and dermoscopic findings, were summarized and analyzed using descriptive statistics. Results The male-to-female ratio was 1.7∶1, with a median onset age of 8 months (IQR: 5-10). Among the 33 patients who completed at least 2 years of follow-up, 90.91% (30 cases) experienced complete resolution of the lesions, with a mean resolution age of 3.17±0.75 years. The rashes predominantly affected the forehead (90.74%), temples (70.37%), and eyebrows (53.70%), with 74.07% of cases involving 2-3 sites. The number of lesions was mostly 10-20 (53.70%), with the long axis typically measuring 2-10 mm (70.37%). Bilateral distribution was observed in 92.59% of cases, and 61.11% had onset in autumn. Dermoscopy revealed brownish-red pseudo-reticular pigmented macules with telangiectasia in 88.89% of patients. Conclusion AFHM is a benign, self-limiting dermatosis in infants and young children, with distinctive clinical and dermoscopic features. For most cases, skin biopsy is not a necessary diagnostic step.

Infants aged 0-6 months are at high risk of functional gastrointestinal disorders (FGIDs) derived from immaturity of various systems, among which infant regurgitation and infant colic are predominant. Infants cannot accurately express their feelings, and some symptoms overlap with organic diseases, which are prone to induce anxiety and depression in overly concerned parents. Therefore, appropriate diagnosis and management helps to release symptoms, ease parents’ fear, and improve quality of life. Diagnostic criteria in China include “Rome IV-Functional GI Disorders: Disorders of Gut-Brain Interaction” and “Chinese expert consensus on the diagnosis of functional dyspepsia syndrome”, which hold different aspects according to concrete conditions and are utilized based on clinical judgement. Infants aged 0-6 months have milk as single nutrition source. Breastfeeding should remain the priority, while specific formula might be chosen in formula-fed infants based on comprehensive considerations including, the severity of problems, parents’ perspective, and family economic burden, etc. Management strategies include health education, nurturing guidance and nutritional intervention. Pharmaceutical treatment is not required in most situations.

Asthma is a common chronic airway inflammatory disease, which is characterized by non-specific airway inflammation, airway remodeling and airway hyperresponsiveness. For many years, the pathogenesis of asthma has mainly focused on immune imbalance caused by allergic reaction, but in recent years, attention has been paid to the role and mechanism of airway epithelial injury in the occurrence and development of asthma, which may be a key factor in the pathogenesis and control of asthma. Airway epithelium is the first barrier of human respiratory system to resist the harmful stimulation of external environment, and it is also the most important structural cell of airway. When asthma patients inhale harmful substances and allergens, airway epithelial cells are first invaded and damaged, and a variety of inflammatory mediators and cytokines are synthesized and released to activate immune cells, inducing the occurrence and development of asthma. This paper aims to review the pathogenesis of airway epithelial injury in asthma, the pathological changes of airway epithelial in asthma patients and its key cytokines, in order to find potential biomarkers and therapeutic targets, and provide basis for early prediction and accurate prevention and treatment of asthma.

Objective To investigate the clinical phenotype, genetic counseling, pregnancy outcomes, and long-term developmental outcomes of fetuses with 1q21.1 microdeletion/ microduplication syndrome, and to provide a comprehensive clinical picture of fetuses with this copy number variation to inform clinical decision-making. Methods A retrospective analysis was conducted of pregnant women from January 2017 to December 2022. Results 39 cases of 1q21.1 microdeletion/microduplication syndrome fetuses were identified, with a detection rate of 0.16% (39/24,240). The size range of the copy number variation segments was 0.24 Mb to 62.34 Mb, with 22 cases (56.4%) being 1q21.1 microdeletions and 17 cases (43.6%) being 1q21.1 microduplications. Among the 22 cases of 1q21.1 microdeletion fetuses, 10 had prenatal ultrasound abnormalities (10/22, 45.6%), 4 had high-risk non-invasive/serological screening results (4/22, 18.2% ), 5 cases were of advanced maternal age (5/22, 22.7%), and 3 cases had a history of adverse pregnancy outcomes (3/22, 13.6%); among the deletion cases, 6 underwent parental origin testing, revealing 2 de novo mutations, 3 paternal origin, and 1 maternal. Among the 17 cases of 1q21.1 microduplication fetuses, 8 had prenatal ultrasound abnormalities (8/17, 45.6%), 4 had high-risk non-invasive/serological screening results (5/17, 29.4%), 5 were of advanced maternal age (2/17, 11.8%), and 3 had a history of adverse pregnancy outcomes (3/17, 17.6%); among the repeat cases, only 1 case showed a de novo mutation after parental lineage tracing. Conclusion 1q21.1 microdeletions/microduplications exhibit diverse manifestations during fetal development. CNV-seq technology holds significant value for detecting fetal cases of chromosomal microdeletion/microduplication syndromes, including 1q21.1.

Numerous children in China are affected by asthma, with less-than-ideal disease control. In April this year, the "Guidelines for the Diagnosis and Management of Pediatric Bronchial Asthma (2025)" was released, offering new guidance for pediatric asthma management. In recent years, digital and intelligent technologies have developed rapidly, and the state also encourages the medical system to adopt digital and intelligent technologies to improve the quality of medical services. Taking this opportunity, in response to the challenges currently faced in the prevention and control of childhood asthma, this article summarizes the application of digital intelligence technology in the diagnosis of childhood asthma, quality control and intelligent interpretation of children's lung function, and the full-course management of asthma. It also puts forward specific suggestions for the problems that need to be solved in promoting the prevention and control of asthma through digital intelligence technology and the future construction work.

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.

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.

Human milk is the optimal food for infants. Proteins in human milk provide essential amino acid for growth, and multiple bioactivities for immunity and neurodevelopment. As a breastfeeding substitute, the ultimate goal of infant formula modification is a feeding outcome similar to breast feeding. The strategies to optimize proteins in infant formula including: lower protein content, addition of validated human milk bioactive proteins, adjustment of protein structure based on human milk. Although efforts have been made, there is still a huge gap between human milk and infant formula which need further research.

Generalized pustular psoriasis (GPP) is a rare, recurrent systemic inflammatory skin disease. Interleukin (IL)-36RN (IL36RN) is the most common causative gene in GPP. Innate immunity mediated by IL-1/IL-36-chemokine-neutrophils plays a central role in the pathogenesis of GPP, and adaptive immunity mediated by tumor necrosis factor-α (TNF-α)/IL-23/IL-17 is also involved in GPP pathogenesis. At present, the main therapeutic agents for GPP are acitretin, methotrexate, cyclosporine and biologics. Most of the biologics are still used as over-indications in pediatric GPP. There is increasing evidence that adalimumab and secukinumab have achieved better efficacy in the treatment of GPP in children. Spesolimab, an IL-36 receptor inhibitor, is a new therapeutic target for GPP, bringing new hope for the treatment and prevention of GPP. This article reviews the pathogenesis and treatment progress of GPP in children, and provides reference for the clinical diagnosis and treatment of the disease.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm. At present, the primary therapeutic strategy is risk-stratified chemotherapy. Nevertheless, significant clinical challenges persist, including high rates of disease reactivation and a considerable number of refractory cases. Currently, no standardized treatment protocol exists for refractory LCH. Nucleoside analog-based chemotherapy remains the mainstay of therapy, although it is associated with a substantial risk of complications. While targeted therapies demonstrate rapid efficacy, disease recurrence remains a common issue. Therefore, further investigation into combination treatment strategies and optimization of therapeutic regimens is warranted. With ongoing advances in understanding the pathogenesis of LCH and the development of novel therapeutic modalities, there is optimism that the management of refractory LCH will improve significantly, ultimately leading to better patient outcomes.

Congenital chylothorax (CC) is the most common cause of pleural effusion during the neonatal period, with a reported perinatal mortality rate ranging from 15% to 57%. When associated with fetal hydrops, this mortality rate can increase dramatically, reaching as high as 98%. Currently, there are no universally accepted standardized treatment guidelines for CC. This study retrospectively reviewed the clinical presentation, diagnosis, treatment, and follow-up outcomes of two neonates diagnosed with refractory congenital chylothorax. Additionally, a comprehensive literature search was conducted using relevant keywords in both domestic and international databases from their inception to September 2024, aiming to summarize the clinical features and recent advances in the management of refractory congenital chylothorax in neonates. Both infants were born as near-term preterm babies and had prenatal ultrasound findings of bilateral pleural effusion. Following birth, they exhibited signs of respiratory distress and cyanosis of the lips, necessitating immediate transfer to the neonatal intensive care unit (NICU). The presence of elevated triglyceride levels in the pleural fluid confirmed the diagnosis of congenital chylothorax. Despite more than four weeks of conservative management—including endotracheal intubation with mechanical ventilation, closed thoracic drainage, dietary modifications, parenteral nutrition, and intravenous octreotide infusion—clinical improvement was not observed. Subsequently, oral propranolol was initiated. In case 1, complete resolution of pleural effusion was achieved before discharge, and no recurrence was observed during follow-up until six months of age. In case 2, the effusion showed partial improvement at discharge. However, after discontinuation of propranolol, recurrence occurred. The infant was managed with close observation, and the effusion resolved spontaneously within one week. No recurrence was noted during follow-up until seven months of age. This study suggests that propranolol may serve as a potentially effective and safe therapeutic option for refractory congenital chylothorax when conventional conservative treatments fail.

Lymphadenopathy, one of the most common clinical signs in pediatrics, encompasses a broad etiological spectrum, posing significant challenges in differential diagnosis. The release of the Expert consensus on the clinical diagnosis and treatment of lymphadenopathy in children (2026) has sparked extensive discussion among pediatricians across China. This review aims to provide an in-depth interpretation and expansion of the core content of the consensus, focus on the difficult issues in clinical practice, and further discuss some unfinished contents. The article will thoroughly explore the definition of lymphadenopathy, refined interpretation of imaging examinations, application of "potential diagnostic clues", recognition of "alarm signals" for malignancies, and the evolving pathogen spectrum of infectious lymphadenopathy along with corresponding diagnostic and therapeutic strategies. This paper seeks to assist clinicians in better understanding and applying the consensus, thereby enhancing the diagnostic and therapeutic standards for pediatric lymphadenopathy.

Objective This study aimed to investigate the influenza vaccination coverage among pregnant women in Shanghai, analyze the main demographic factors influencing vaccination behavior, and further assess the potential association between influenza vaccination during pregnancy and the occurrence of preterm birth, providing empirical evidence for influenza vaccination strategies in China. Methods All the information of the mothers and their newborns from January 1, 2012 to December 31, 2022 in the Shanghai Birth Medical Information System was collected. A multivariate logistic regression model was used to analyze the main demographic factors influencing influenza vaccination among pregnant women and to evaluate the association between influenza vaccination during pregnancy and preterm birth outcomes. Results During the study period, 2209 pregnant women received influenza vaccination. Multivariate logistic regression analysis revealed that maternal residency, age, education, spouse’s age and education, history of miscarriage, and offspring birth year were significant factors influencing influenza vaccination during pregnancy (all P<0.001). Compared with pregnant women registered in Shanghai, those with residency outside Shanghai had a lower likelihood of vaccination (adjusted OR=0.83, 95% CI: 0.76-0.91). Compared to women aged < 25 years, those aged 25-34 years (adjusted OR=2.65, 95% CI: 1.75-4.00) and ≥ 35 years (adjusted OR=3.35, 95% CI: 2.19-5.14) had higher likelihoods of vaccination. Women whose spouses were ≥ 35 years old were more likely to be vaccinated compared with those whose spouses were < 25 years old (adjusted OR=2.74, 95% CI: 1.57-4.78). Women with a college degree or above had a higher likelihood of vaccination than those with less than college education (adjusted OR=5.63, 95% CI: 4.30-7.38), and similarly, women whose spouses had a college degree or above were more likely to be vaccinated compared to those whose spouses had lower education (adjusted OR=2.19, 95% CI: 1.78-2.69). Women with a history of miscarriage were less likely to be vaccinated compared with those without (adjusted OR=0.76, 95% CI: 0.70-0.84). Compared to offspring born between 2012 and 2015, women with offspring born between 2016 and 2019 (adjusted OR=8.70, 95% CI: 6.45-11.75) and between 2020 and 2022 (adjusted OR=54.56, 95% CI: 40.79-72.97) were significantly more likely to receive influenza vaccination during pregnancy. After adjusting for maternal residency, age, education, spouse’s age and education, single/multiple pregnancies, history of miscarriage, gestational hypertension, gestational diabetes, and offspring birth year, influenza vaccination during pregnancy was associated with a 35% reduction in the risk of preterm birth compared to that of no vaccination during pregnancy (adjusted OR=0.65, 95% CI: 0.53-0.81). Conclusions Multiple sociodemographic factors are significantly associated with influenza vaccination behavior among pregnant women in Shanghai between 2012 and 2022, and influenza vaccination during pregnancy may be related to a reduced risk of preterm birth. It is recommended to further strengthen public education and service support, continuously promote vaccination efforts, and effectively safeguard maternal and infant health.

Objective To explore the safety and feasibility of implanting leadless pacemakers via the internal jugular vein in children with congenital heart disease (CHD) of small age and low weight who have developed third-degree atrioventricular block (AVB) after surgery. Methods A retrospective analysis was conducted on the clinical data of a child with grade three AVB after congenital heart disease surgery, as well as the implantation of leadless pacemaker through the internal jugular vein. Results A 6.5-year-old girl (weighing 15 kg) with syncope secondary to third-degree AVB following congenital heart defect repair underwent successful implantation of an AVEIR leadless cardiac pacemaker via the internal jugular vein after comprehensive evaluation of vascular diameter and cardiac dimensions. Postoperative pacing parameters were good, clinical symptoms were eliminated, and no pacemaker-related complications occurred. Conclusions In low-weight young children, after thorough preoperative vascular and cardiac function evaluations, the intracervical vein approach for leadless cardiac pacemaker implantation proves a safe and feasible choice.

Objective Whether exogenous pulmonary surfactant (PS) administration could prolong the survival time of preterm infants after pulmonary hemorrhage is currently a lack of sufficient evidence. This study was conducted to evaluate the effect of surfactant administration after pulmonary hemorrhage on the survival prognosis of preterm infants. Methods The study participants were preterm babies, gestational age (GA) <34 weeks, with pulmonary hemorrhage admitted from January 1, 2017 to December 31, 2022. After pulmonary hemorrhage, infants would be given an additional dose of PS if the parents agreed. The timing of administration is usually 2-4 hours after the pulmonary hemorrhage stabilizes. Accordingly, the participants were retrospectively divided into the PS administration group after pulmonary hemorrhage (n=16) and the non-PS administration group after pulmonary hemorrhage (n=40) according to the records from hospital information system. Results It was found that the blood gas was better after PS administration. Moreover, the survival time, duration of caffeine administration, and duration of invasive ventilation were significantly longer in the PS administration group (P<0.05). The intergroup comparison showed that the application of PS after pulmonary hemorrhage could reduce the short-term all-cause mortality within 72 hours and 168 hours (P<0.05), but for the all-cause mortality within 702 hours and during the complete hospitalization period, there was no significant difference between the two groups. The Log-rank test of the survival curve showed that the application of PS after pulmonary hemorrhage could reduce the risk of death within 72 hours, within 168 hours, and during the full hospitalization period (P<0.05), except for the risk of death within 702 hours. The Breslow test showed that the application of PS after pulmonary hemorrhage could significantly prolong the survival time from 72 hours after pulmonary hemorrhage to discharge (P<0.05). Conclusion Administering PS to preterm infants with gestational age <34 weeks after pulmonary hemorrhage may have potential benefits, further clinical studies are needed to explore whether this treatment can improve the long-term outcomes.

Objective To build a risk prediction model for primary graft failure (PGF) after umbilical cord blood transplantation (UCBT) in pediatric leukemia based on over-sampling. Methods Patients with leukemia who received umbilical cord blood transplantation from January 2017 to December 2022 were retrospectively analyzed. According to the presence or absence of PGF, the patients were divided into graft failure group and graft success group. Based on the over-sampling algorithm to expand the positive group data, the random forest, neural network and logistic regression were used to construct the mode. The stability of the algorithm was evaluated by using the 5-fold cross-validation method. The model was evaluated by using AUC, precision, recall and F1-score. Results A total of 92 leukemia patients were enrolled, PGF occurred in 10 patients (10.9%). ROSE and SMOTE algorithm demonstrate good stability in 5-fold cross-validation method. In the data set processed by ROSE algorithm, all models have good prediction effect, and the best performance is the neural network model. Juvenile myelomonocytic leukemia, HLA matching<9/10, RIC, no Periengraftment syndrome and EBV infection within 42 days were independent risk factors for PGF. Conclusion Multiple factors may cause PGF after umbilical cord blood transplantation in pediatric leukemia. ROSE-Neural Network model has good predictive ability, which can help doctors to identify patients at high risk of PGF early, provide personalized treatment, and improve the prognosis of children.

Objective Neonatal sepsis (NS) is the third cause of neonatal deaths in the world, with significant differences in disease burden between developing and developed countries. The disease burden of NS in developed and developing countries was compared to provide an evidence-based basis for China to formulate more effective prevention to reduce the disease burden of NS. Methods The NS data of prevalence, incidence, and deaths including number,rate and age standard rate,were extracted from the Global Burden of Diseases 2021 (GBD 2021) database for 1990-2021 in the global, America, China, and India. The Joinpoint regression model was used to analyze the trend, and annual percentage change (APC) and average annual percentage change (AAPC) were calculated. To forecast trends in NS age standard prevalence, incidence, and deaths in the global, America, China, and India from 2021 to 2035. Results As of 2021, the global number of NS prevalence was 9661523, and the number of deaths was 232656. In 2021, compared with 1990, the global age standard prevalence of NS increased by 34.5%,while age standard incidence and deaths respectively decreased 20.6% and 21.2%. From 1990 to 2021, the age standard prevalence, incidence and deaths in India were all higher than the global average. Age standard prevalence in China is increased, while in America it has remained stable. China showed the largest decline in age standard incidence and deaths of NS (35.7% and 65.8%, respectively). Conclusion From 1990 to 2021, the global disease burden of NS showed a downward trend. It is suggested to further optimize the balanced allocation of medical resources to promote the reduction of NS disease burden.

Objective To investigate the clinical characteristics, genetic profiles, and therapeutic outcomes of oxcarbazepine in children with congenital myotonia (MC). Methods A retrospective analysis was conducted on three pediatric MC cases, summarizing their clinical manifestations and treatment courses. All patients underwent next-generation sequencing (NGS) for genetic diagnosis. Results All three cases initially presented with movement disorders and were misdiagnosed as paroxysmal kinesigenic dyskinesia (PKD). Genetic testing revealed pathogenic variants in the CLCN1 gene, confirming MC diagnosis. Remarkably, all patients achieved symptomatic relief after oxcarbazepine administration. Conclusions MC patients exhibit diverse clinical features, including the "warm-up phenomenon," positive family history, and specific genotypes. While medications such as mexiletine and acetazolamide are effective, individualized treatment strategies are essential. Early diagnosis and proper intervention are crucial for improving patients' quality of life and prognosis. This study preliminary report the efficacy of oxcarbazepine in MC treatment, providing valuable insights for clinical practice.

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.

Objective To investigate the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) complicated by scoliosis. Methods A retrospective analysis was performed on the clinical data of SMA patients with scoliosis who regularly received nusinersen treatment at the Spinal Center of our hospital from January 2022 to June 2024. The data encompassed basic information, surgical history, imaging examinations, etc., collected from the electronic medical record system. During the follow-up period, three scales, namely the Revised Upper Limb Module (RULM) score, the Hammersmith Functional Motor Scale-Expanded (HFMSE), and the Spinal Muscular Atrophy Independence Measure-Upper Limb Module (SMAIS-ULM), were employed to assess the patients. The results of these assessments were compared with pre-treatment baseline data. Results A total of 22 SMA patients were included in the analysis. The median age was 13.2 (9.8-21.8) years, and nearly half of the patients (41%) were unable to sit independently. The median pre-treatment Cobb angle was 101.0 (42.3-121.3) degrees, and 17 of these patients (77.3%) underwent scoliosis correction surgery during follow-up period. The median follow-up duration was 22 (13-26) months. After treatment with nusinersen, the RULM scores of the patients were significantly improved (P<0.001). The motor function of 18 patients (81.8%) showed clinically meaningful improvement. Moreover, the SMAIS-ULM scores of both the patients and their caregivers also increased. During the treatment process, 13 patients (59.1%) reported adverse reactions such as dizziness, nausea, and pain at the site of intrathecal injection. Additionally, 2 patients presented with diarrhea and alopecia. Conclusions Nusinersen has been shown to improve upper limb motor function in SMA patients complicated by scoliosis and enhance their independence in daily activities. This effect appears to be independent of surgical intervention and is associated with a favorable safety profile.

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 To analyze the clinical characteristics and prognostic factors of hemophagocytic syndrome (HPS) in children. Methods A retrospective analysis was conducted on the clinical data and follow-up information of 45 children with HPS admitted from January 2017 to July 2023. Results The median age of onset in the 45 children was 4.5 (2.1-10.0) years, all of whom started with fever. Infection-related HPS accounted for 77.8%, with Epstein-Barr virus (EBV) infection being the most common (85.7%). The overall survival rate of all children was (88.9±4.7)%. Univariate analysis showed that triglycerides≥3.8 mmol/L and lactate dehydrogenase≥2500 U/L were risk factors affecting the prognosis of children with HPS (P<0.05 for both), and multivariate analysis showed that triglycerides≥3.8 mmol/L was an independent risk factor affecting the prognosis of children with HPS (P=0.029). Conclusion HPS often starts with fever, and infection (especially EBV infection) is the most common cause; the levels of triglycerides and lactate dehydrogenase at initial diagnosis (especially triglycerides≥3.8 mmol/L) are key factors in assessing prognosis.

Objective To investigate the diagnostic value of interferon-gamma release assay (IGRA) in pediatric pulmonary tuberculosis (PTB) and analyze the risk factors of negative IGRA results. Method A total of 77 children with confirmed PTB who were hospitalized in our hospital from January 2018 to June 2023 were included in the study. Based on IGRA results, they were categorized into positive and false-negative groups. The sensitivity of IGRA for diagnosing pediatric PTB was evaluated, and the factors contributing to false-negative results were analyzed. Result The sensitivity of Tuberculin skin test (TST) for diagnosing pediatric PTB was 67.53% (52/77), while that of IGRA was 77.92% (60/77). The agreement rate between TST and IGRA was 79.22%, with a Kappa value of 0.48, indicating moderate consistency. Multivariate analysis revealed that the induration reaction of TST (moderate positive OR=0.066, 95%CI:0.009-0.471, P=0.007, strong positive OR=0.023, 95%CI: 0.002-0.275, P=0.003) and albumin-to-globulin ratio (OR=17.193,95%CI: 2.379-124.247, P=0.005) were independent predictors of false-negative IGRA results. Conclusion Due to the immature development of the immune system, children should be vigilant against the possibility of false negative results of IGRA. Emphasis on molecular biological and pathological examinations is crucial for achieving an early and accurate diagnosis, thereby preventing delayed treatment and missed opportunities for optimal care.

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.

Objective To analyze the clinical characteristics and prognosis of PAPVC-IAS in order to improve the understanding of the disease. Methods A total of 16 children with PAPVC-IAS confirmed by echocardiography, cardiac CTA or surgery from June 2014 to June 2024 were collected. Their clinical and imaging features, as well as prognosis were analyzed. Results Among the 16 cases, there were 7males and 9 females. The age of the first diagnosis was from 4 to 101months. The most common type of ectopic drainage was the supracardiac type, including 7 cases (43.7%) of left superior pulmonary vein draining into left innominate vein through vertical vein, 3 cases (18.8%) of ectopic drainage of the right upper pulmonary vein into the superior vena cava; followed by infracardiac type, 4 cases (25.0%) of ectopic drainage of right inferior pulmonary vein to inferior vena cava; and the most rare is the intracardiac type, 2 cases (12.5%) of pulmonary vein directly flowing into right atrium. It was reported that the right atrium and right ventricle were slightly enlarged, and 31.2% (5/16) of the patients were associated with mild pulmonary hypertension. Surgical treatment can be given to children with surgical indications. PAPVC repair is a relatively safe operation with good outcomes and few complications. Conclusions PAPVC-IAS is easy to be missed in the early stage because of mild clinical symptoms. If unexplained cardiac enlargement or unexplained pulmonary hypertension is found, the diagnosis of the disease should be considered. The prognosis of the disease is good after surgical treatment.

A retrospective analysis was performed on the clinical data of a 7-year-old girl with anti-DPPX antibody-associated autoimmune encephalitis who initially presented with tic-like symptoms and subsequently developed significant behavioral abnormalities and frequent urination. This case was reviewed in conjunction with previously published literature on anti-DPPX-related autoimmune encephalitis to investigate the clinical features and prognosis of this condition when tic disorders are the initial symptom, hereby enhancing pediatricians' awareness of this rare presentation. The patient was admitted due to prominent tic-like symptoms and progressively exhibited behavioral abnormalities and frequent urination. Brain MRI showed no significant abnormalities, while EEG demonstrated a slowed background rhythm. Elevated titers of anti-DPPX antibodies were detected in both serum (1∶32) and cerebrospinal fluid (1∶1), and tumor-related screening revealed no abnormalities. Following immunotherapy, her symptoms significantly improved, and no recurrence was observed during the 15-month follow-up period. A total of 37 articles were reviewed, summarizing 88 cases of anti-DPPX-related autoimmune encephalitis. However, no cases presenting with tic disorders as the initial symptom have been reported. Anti-DPPX antibody-associated autoimmune encephalitis presenting with tic disorders as the initial symptom is exceedingly rare in children. In this case, immunotherapy yielded favorable results. Clinicists should be vigilant regarding the heterogeneity of this disease to avoid missed or delayed diagnoses.

Objective To evaluate the efficacy and safety of TNF-α antagonists in the treatment of chronic recurrent multifocal osteomyelitis (CRMO) in children. Methods The clinical data of 6 children with CRMO admitted to the hospital from June 2021 to May 2023 were retrospectively analyzed. Results A total of 6 children (4 boys and 2 girls) with CRMO were included. All of them had the onset of bone pain. The median age of onset was 9.5 (8-10) years, and the median age of diagnosis was 11 (10-12) years. The levels of C-reactive protein, interleukin-6 and erythrocyte sedimentation rate increased in 4 cases, antinuclear antibody was positive in 3 cases, and human leukocyte antigen B27 was positive in 1 case. From the onset of the disease to the last follow-up visit, a total of 92 lesions of skeletal involvement were found in the 6 children, predominantly in the tarsus (32, 34.8%), metatarsus (14, 15.2%), femur (9, 9.8%), and tibia (9, 9.8%). All 6 children received treatment with diclofenac sodium, methotrexate and adalimumab after diagnosis. Cases 1, 2, 4 and 6 received adalimumab at a dose of 40mg each time (once every 2 weeks), while cases 3 and 5 received adalimumab at a dose of 20mg each time (once every 2 weeks). Before admission, case 1 had a history of using adalimumab. After the recurrence of the disease, the efficacy of adalimumab was poor. The medication was then adjusted to infliximab at a dose of 200mg per administration (4mg/kg each time, once a month). After treatment, the condition was significantly relieved. After regular treatment for 3 months, the bone pain symptoms disappeared in 4 of the 6 children. For case 1, the bone pain disappeared after 8 months of treatment with infliximab, and for case 4, the bone pain disappeared after 4 months of treatment with adalimumab. During the follow-up process, all the children's inflammatory indexes returned to normal, and the imaging suggested that the lesions were significantly absorbed or disappeared compared with before treatment, and no TNF-α antagonist-related adverse drug reactions were seen. Conclusions TNF-α antagonists can control inflammation and improve symptoms and imaging changes in children with CRMO. No adverse drug reactions were observed during the follow-up period.

The genus Janibacter is a rare Gram-positive rod-shaped bacterium that mainly exists in the environment. This bacterium can cause bacteremia and may further develop into sepsis, aggravating clinical symptoms. In May 2022, a 9-year-old boy was admitted to our hospital due to "intermittent fever for over one month." Physical examination revealed scattered hemorrhagic rashes over the body, with notable involvement of the postauricular area. Multiple enlarged lymph nodes can be palpated bilaterally in the neck, in the left supraclavicular fossa and bilaterally in the axillae, approximately the size of broad beans, with a firm texture, fair mobility and no tenderness on palpation. Laboratory tests showed a white blood cell count of 2.79×10⁹/L↓, C-reactive protein of 6.41 mg/L↑, and procalcitonin of 0.2 ng/mL↑. Fecal occult blood was positive. Laboratory examinations revealed elevated levels of aspartate aminotransferase (65.6 U/L↑), alanine aminotransferase (60 U/L↑), lactate dehydrogenase (480 IU/L↑), and creatine kinase isoenzyme (30.7 U/L↑). Metagenomic next-generation sequencing (mNGS) identified Janibacter, with 408 sequences detected. The child was definitively diagnosed with Janibacter infection. After treatment with intravenous immunoglobulin, linezolid, and co-trimoxazole, the clinical symptoms improved, laboratory tests normalized, and no pathogens were detected on follow-up mNGS. This child represents the first reported pediatric case of sepsis caused by Janibacter melonis infection, both domestically and internationally.

Objective To investigate the clinical, electrophysiological and prognosis of patients with acute anti-GQ1b antibody syndrome. Methods A retrospective analysis was performed on the clinical data of 24 children diagnosed with acute anti-GQ1b antibody syndrome between 2019 and 2023 at our hospital. Demographic characteristics, clinical manifestations, electrophysiological findings, and outcomes were systematically reviewed and analyzed. Results All 24 patients presented with acute onset of symptoms. The median age was 4.0 ( 2.0-13.5) years, with male predominance (62.5%). Common clinical features included reduced or absent tendon reflexes, ataxia, limb weakness, sensory disturbances, and cranial nerve involvement. Autonomic dysfunction was observed in 4 patients, and lethargy was noted in 2.Nine patients exhibited clinical features consistent with the Miller-Fisher syndrome (MFS) spectrum, including 5 with classical MFS and 4 with variant MFS. Eight patients displayed Guillain-Barré syndrome (GBS)-related phenotypes, comprising 3 classical GBS and 5 variant GBS cases. The remaining 7 patients were classified as mixed type, presenting overlapping features of MFS, GBS, and Bickerstaff’s brainstem encephalitis (BBE). In addition to anti-GQ1b antibodies, 15 patients had detectable levels of other anti-ganglioside antibodies, most commonly anti-GT1a and anti-GM1. Cerebrospinal fluid (CSF) analysis revealed protein-cell dissociation in 21 patients. Electrophysiological studies showed mild sensory nerve amplitude reduction in the MFS group, whereas both motor and sensory nerves were significantly affected in the GBS and mixed-type groups. All patients received intravenous immunoglobulin therapy. After 3-month follow-up, 15 patients demonstrated favorable neurological recovery. Patients with poor recovery were more likely to have cranial nerve injury, autonomic dysfunction, and higher GDS scores upon admission (P<0.05). Conclusion Acute anti-GQ1b antibody syndrome in children demonstrates a wide range of clinical phenotypes, with both axonal and demyelinating pathologies present. Follow-up nerve conduction studies conducted between 3 and 8 weeks post-onset are valuable for assessing electrophysiological subtypes and monitoring recovery. Approximately two-thirds of affected children achieve good functional outcomes, while those with cranial nerve involvement, autonomic dysfunction, or elevated initial GDS scores tend to have poorer 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.

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.

Objective To analyze the clinical characteristics of children with respiratory adenovirus type 3 infection and the influencing factors of adenovirus type 3 pneumonia in children. Methods A retrospective analysis was conducted on the clinical data of children with respiratory adenovirus type 3 infection admitted to the hospital's infectious disease department from January to October 2024. The possible influencing factors of the occurrence of adenovirus type 3 pneumonia were analyzed through multivariate logistic regression. Results A total of 159 children (87 boys and 72 girls) with adenovirus type 3 infection were included, with a median age of 59.0 (41.0-81.0) months. Multivariate logistic regression analysis showed that tonsillar exudation and elevated CRP level were independent protective factors for adenovirus type 3 pneumonia in children (P<0.05), while cough, expectoration and elevated D-dimer level were independent risk factors for adenovirus type 3 pneumonia (P<0.05). Conclusions In the early course of respiratory adenovirus type 3 infection in children, tonsillar exudation may indicate mild pulmonary symptoms, suggesting that the tonsils may play an important defensive role in the immune response of acute adenovirus infection.

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.

Leadless pacemakers have gained prominence in the field of pacemaker implantation due to their small size, lack of a pouch, minimal implant trauma, and avoidance of traditional electrode lead wear and fragmentation. However, children, with their distinct physiological characteristics from adults, face unique challenges in terms of implantation pathways, cardiac chamber size, right ventricular target area conditions, pacing ratio, pacemaker lifespan, and future replacement issues. This article provides a brief review of the current status of leadless pacemaker implantation in children, discussing the problems and strategies faced in the implantation of leadless pacemakers in children, with the aim of enhancing the understanding of this cutting-edge technology among peers and promoting the standardized application of leadless cardiac pacemakers in the pediatric field.