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.

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 review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature. Methods Clinical data, laboratory and imaging results and genetic data were collected and followed up. Results The patient was a boy aged 10 years and 11 months. Clinical manifestations included short stature, anemia and thrombocytopenia were indicated by laboratory examination, and the peak value of growth hormone stimulation test was 31 μg/L. Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation, inherited from the proband's mother and father respectively; His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features, including short stature, anemia, thrombocytopenia, and leukopenia. Notably, the c.286T>C has not been previously reported in the literature and represents a novel mutation site. Growth hormone treatment for half a year, the height increased by 2.1cm, indicating poor therapeutic efficacy. Regular outpatient follow-up shows that there is still anemia and thrombocytopenia. Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome, and genetic examination should be improved. The c.286T>C mutation identified in this case is a novel mutation site. In this instance, growth hormone therapy proved ineffective.

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.

A male infant, aged 1 month and 24 days, was diagnosed with immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Whole-exome gene sequencing revealed compound heterozygous mutations of LRBA, confirming a diagnosis of LRBA deficiency with an ALPS-like phenotype. Despite treatments with corticosteroids, neonatal-like exchange transfusions, rituximab, and sirolimus, the ALPS-like symptoms persisted and were complicated by pulmonary infection and cytomegalovirus viremia. At 3 months of age, the patient underwent haploidentical hematopoietic stem cell transplantation (HSCT) using bone marrow from his father. Post-transplantation, successful engraftment of platelets and granulocytes was achieved, infections were controlled, and no severe complications occurred. Three months after transplantation, the infant developed grade Ⅱ skin graft-versus-host disease (GVHD), which resolved completely following treatment. Currently, more than 8 months after transplantation, the patient remains healthy with normalized immune function and no recurrence of the ALPS-like phenotype. This article retrospectively analyzed a case of a young patient with LRBA deficiency and an ALPS-like phenotype, evaluating the efficacy and safety of HSCT using bone marrow-derived hematopoietic stem cells from a haploidentical father. The study indicates that for children unresponsive to first-line treatments, HSCT should be considered as early as possible. In the absence of a fully matched donor, haploidentical donors and bone marrow-derived stem cells represent viable options that may enhance engraftment, reduce GVHD and infection risks, and improve transplantation outcomes. Further studies are required to optimize the treatment protocol and improve prognosis.

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 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 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 adapt the Tampa Scale for Kinesiophobia for use in pediatric populations with heart disease and evaluate its reliability and validity as a tool for assessing fear of exercise in this population. Methods The scale was revised based on surveys of children with heart disease, expert consultations, and preliminary surveys. From January to July 2024, the revised scale was administered to 294 children aged 7-18 years with heart disease using a convenience sampling method. Results The final scale comprised 11 items. Exploratory factor analysis extracted two factors, labeled " fear of exercise " and " avoidance tendency," which accounted for a cumulative variance of 51.241%. The overall Cronbach’s α coefficient was 0.820, and the split-half reliability was 0.782. For the subdimensions, Cronbach’s α coefficients were 0.811 and 0.820, with split-half reliabilities of 0.772 and 0.830. Conclusion The Kinesiophobia scale for children with heart disease demonstrates strong psychometric properties and is a reliable and valid tool for evaluating exercise-related fear in children aged 7-18 years with heart disease.

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.

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.

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.

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.

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..

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 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.

Narcolepsy is a rare neurological disorder characterized by excessive daytime sleepiness, cataplexy, disturbed night sleep, sleep paralysis and sleep hallucinations. It typically onsets during childhood or adolescence. The treatment is focused on ameliorating clinical symptoms, encompassing drug therapy to alleviate symptoms such as excessive daytime sleepiness and cataplexy. Despite the fact that orexin replacement therapy and orexin receptor agonists are in the research stage, the majority of drugs for narcolepsy used in children are off-label. Hence, more clinical studies are requisite to validate their safety and efficacy in children.

Objective To investigate the clinical characteristics and management strategies of food-dependent exercise-induced anaphylaxis (FDEIA) in children. Methods A retrospective analysis was conducted on 8 pediatric patients diagnosed with FDEIA between August 2019 and August 2024. Clinical features, treatment outcomes, and atopic histories were reviewed. Results Among the 8 cases (2 males, 6 females; aged 9-14 years), 62.5% had a family history of allergies and 87.5% had personal atopic diseases (most commonly allergic rhinitis and urticaria). Trigger foods included wheat, vegetables, seafood, red meat, fruits, and sesame. The maximum interval between food intake and exercise was 3 hours, with symptom onset occurring 5-30 minutes post-exercise. All patients presented with cutaneous manifestations, while 75% developed combined respiratory-circulatory involvement (hypotension in 50%, syncope in 25%, hypoxemia in 12.5%). Management included intramuscular epinephrine in 87.5% of cases, with full recovery in all patients. Conclusion FDEIA in children is characterized by rapid progression and multi-system involvement. A history of recurrent reactions and atopic comorbidities, combined with total serum IgE elevation (median 65.6-2172 kU/L) and specific IgE positivity (62.5%), aids diagnosis. Early epinephrine administration is critical for favorable outcomes.

Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. Thrombotic microangiopathy (TMA) is one of the serious complications of SLE. SLE patients with concurrent TMA often have a poor prognosis and a higher mortality rate. Eculizumab is a humanized monoclonal anti-C5 antibody, which is the preferred treatment for atypical hemolytic uremic syndrome (aHUS) in both adults and children. Currently, Eculizumab is used for the clinical treatment of pediatric SLE combined with TMA, and has achieved positive outcomes. This article reviews and summarizes current published studies on the application of eculizumab in treating pediatric SLE. From the perspective of pediatric nephrologists, it elaborates on some personal insights regarding the selection of indications, treatment timing, treatment course, and adverse reactions of eculizumab in the treatment of pediatric SLE. Some issues in the treatment of pediatric SLE with eculizumab still need to be further addressed by future multi-center, large-sample, and multi-level treatment regimen randomized controlled studies.

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.

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.

Objective To summarize the clinical features, puberty development, gonadal neoplasia and prognosis of 15 children with 45, X/46, XY disorders of sex development (DSD) presenting Turner syndrome phenotype. Methods The clinical data of 15 children with 45, X/46, XY DSD presenting Turner syndrome phenotype in Henan Children's Hospital from January 2012 to January 2023 were retrospectively analyzed. Results All the 15 patients presented with the female phenotype and had growth retardation. They had typical clinical signs of Turner syndrome, such as neck web and cubitus valgus. Spontaneous breast development occurred in 3 patients, spontaneous menarche occurred in 1 patient, and gonadal dysgenesis eventually occurred in all patients. The Y chromosome mosaicism rate was 5%-85%. SRY gene detection was performed in 10 patients, and all of them were positive. Pathological examination of 7 patients after gonadectomy revealed gonadal tumors in 3 patients (1 case of unilateral gonadoblastoma, 1 case of dysgerminoma, and 1 case of insitu germ cell tumor). One case of insitu germ cell tumor was malignant at the time of diagnosis, and the age of diagnosis was 4.3 years. Conclusions Patients with 45, X/46, XY DSD may exhibit clinical features reminiscent of Turner syndrome. They have a higher incidence and risk of malignant transformation of gonadal tumors, and this transformation tends to occur at a younger age. This should be given full attention in clinical practice, and the necessity of surgical intervention should be evaluated promptly.

Objective To retrospectively analyze the clinical diagnosis and treatment processes of children with retinitis pigmentosa, with or without skeletal abnormalities syndrome (RPSKA), and to explore the clinical and genetic characteristics of the disease. Methods The clinical characteristics of one case of RPSKA child and the genetic variations between the child and her mother were analyzed. The effect of the mutation on mRNA splicing was verified and the protein stability was detected. The relevant literature was reviewed and summarized. Results The patient is an 8-year-old girl with short stature(-2.28SD), special face(triangular face, left esotropia, low ear position), and severe intellectual disability (Wechsler intelligence scale for children 37 points). She was diagnosed with retinitis pigmentosa at the age of 3. Whole exome sequencing indicated that the patient carried homozygous splice site variation of CWC27 c.397-1G>A. The splicing mutation produced three kinds of abnormal transcripts. The protein stability of all transcripts decreased obviously. Both of them proved that the mutation is pathogenic. Combined with the clinical phenotype of this patient, she was diagnosed with RPSKA. A total of 17 cases of RPSKA have been reported globally, including this case, there are now 18 documented cases. Conclusions RPSKA caused by CWC27 splicing site mutations typically affects multiple systems. It should be vigilant when encountering patients with retinitis pigmentosa, short stature, intellectual disability, and craniofacial malformations. Genetic testing plays a critical role in achieving a definitive diagnosis.

Central precocious puberty (CPP) significantly impacts children's growth potential and psychological well-being. Currently, the diagnosis of CPP primarily relies on the GnRH stimulation test, which is cumbersome and involves multiple blood draws, causing patient discomfort. In recent years, morning urinary gonadotropin measurement has gained attention due to its non-invasiveness and convenience. This article reviews recent advances in urinary gonadotropin testing for CPP diagnosis, analyzes its clinical feasibility, and discusses current challenges and future directions.

Juvenile idiopathic arthritis-associated uveitis (JIA-U) is a prevalent non-infectious autoimmune uveitis among children under the age of 16. The principal pathogenesis lies in the interaction between genetic and environmental factors, resulting in autoimmune dysregulation within the body. Under the collective influence of these factors, the autoimmune response in JIA patients may disrupt peripheral immune tolerance and the blood-retinal barrier, leading to the infiltration of T and B cells and their subsets into the ocular tissues of patients. Through reacting to specific retinal antigens, the production of highly specific autoantibodies, and secreting cytokines such as tumor necrosis factor α (TNF-α) and interleukin 6 (IL-6), it promotes the occurrence and progression of ocular tissue inflammation, and in severe cases, poses a threat to the patient's vision. The initial treatment for JIA-U is based on a stepwise strategy, with corticosteroids as the first-line drug, combined with methotrexate (MTX) for steroid-reduced systemic therapy. For patients intolerant to MTX or with suboptimal therapeutic responses, or those presenting with severe vision-threatening complications, biological disease-modifying antirheumatic drugs (bDMARDs) can be added or substituted. TNF-α inhibitors, IL-6 receptor inhibitors, and Janus kinase inhibitors are commonly utilized bDMARDs for refractory JIA-U or patients unresponsive to MTX. Additionally, T-cell co-stimulation modulators and anti-CD20 monoclonal antibodies may also prove effective for refractory JIA-U or patients unresponsive to MTX. Future studies are requisite to further investigate the mechanism of action, safety, and efficacy of these biological agents in JIA-U, in order to provide more effective therapeutic references.

The field of autoimmune epilepsy has progressed tremendously in recent decades with the discovery of a wide range of neuronal antibodies and the increasing understanding of the pathogenesis of various immune-mediated syndromes. A significant proportion of patients with epilepsy of unknown etiology have been shown to be caused by autoimmunity. Pediatric autoimmune epilepsy is often secondary to autoimmune encephalitis. Its clinical manifestations are diverse, with seizures being the primary symptom. It is frequently accompanied by cognitive impairment, sleep disturbances, speech disorders, and neuropsychiatric symptoms. Diagnosis is usually based on clinical features, MRI findings, and cerebrospinal fluid analysis, and testing for neurospecific antibodies is an important part of the diagnosis. Treatment includes immunotherapy, removal of immune triggers and symptomatic treatment with antiepileptic drugs. Early initiation of immunotherapy can be effective in controlling seizure frequency and improving cognition.

Objective To summarize the application of the lactulose hydrogen-methane breath test (LHMBT) in children with gastrointestinal discomfort, and to analyze the clinical and endoscopic features of children with positive LHMBT. Methods A retrospective analysis was conducted on the clinical data of children hospitalized due to gastrointestinal discomfort in the Department of Gastroenterology of Shanghai Children's Hospital from August 2021 to October 2022. According to the LHMBT results, the children were classified into the LHMBT positive group and the LHMBT negative group, and the clinical characteristics of the two groups were compared. Among them, 63 children underwent gastrointestinal endoscopy, and their endoscopic and histopathological characteristics were analyzed. Results A total of 124 children with gastrointestinal discomfort were included, including 62 boys and 62 girls, with a median age of 10.0 (7.5-12.7) years. LHMBT was positive in 85 (68.5%) children. Among them, the positive rate of SIBO was 24.2% (30/124), the positive rate of IMO was 63.7% (79/124), and the co-positive rate of SIBO and IMO was 19.4% (24/124). The age distribution between the LHMBT positive and negative groups was statistically significant (P<0.05). The proportion of those aged 12-18 years in the LHMBT positive group was relatively low. Among the gastrointestinal discomfort symptoms of the children, abdominal pain was the most common (67.7%, 84/124), followed by abdominal distension (25.0%, 31/124) and constipation (18.5%, 23/124). Compared with the LHMBT-negative group, the proportion of children with diarrhea in the LHMBT-positive group was lower, and the difference was statistically significant (P<0.05). Among the 63 children who underwent gastrointestinal endoscopy, villous blunting and crypt loss in the terminal ileum were more frequently observed in the LHMBT positive group (n=47) than that in the LHMBT negative group (n=16), and the difference was statistically significant (P<0.05). Conclusions The positive rate of LHMBT in children with gastrointestinal discomfort is high, and the incidence of IMO is higher than that of SIBO. LHMBT positivity might correlates with villous blunting and crypt loss in the terminal ileum.

Objective To explore the classification methods, imaging examination methods, and treatment experiences of pediatric arterial ischemic stroke (PAIS). Methods Clinical data of PAIS patients admitted from January 2016 to July 2024 were collected. Their clinical manifestations, imaging examinations, treatments, and outcomes were retrospectively analyzed, and reclassified according to the COIST etiological classification. Results A total of 27 PAIS patients were enrolled, including 11 males and 16 females, aged from 5 months to 13 years. The etiologies identified were as follows: inflammatory (I) in 11 cases (40.7%), vascular structural abnormalities (S) in 4 cases (14.8%), other definite causes (traumatic infarction) (O) in 6 cases (22.2%), and undetermined causes in 6 cases (22.2%). Arteriopathy (T) and cardiac diseases (C) were not identified in this cohort. The most common symptoms were muscle weakness, dizziness, headache, and decreased consciousness. Imaging findings revealed that the middle cerebral artery (MCA) was the most frequently affected, occurring in 12 (44.4%) cases. Among the 27 patients, 15 (55.5%) received anticoagulant therapy, 14 (51.8%) underwent immunotherapy, and 2 (7.4%) underwent thrombolytic treatment. Conclusion The COIST etiological classification provides clear guidance and holds significant clinical value in etiological analysis and treatment direction. However, further optimization is needed to adapt to broader clinical applications.

Objective To enhance the understanding of the clinical characteristics of diquat poisoning in children. Methods A retrospective analysis was conducted on the clinical data of eight pediatric patients diagnosed with diquat poisoning at our hospital. "Diquat" and "diquat poisoning" were used as keywords to search in CNKI, Wanfang and PubMed database from inception to April 2024. Previous case reports were reviewed and summarized. Results Among the eight cases, there were two males and six females aged 3-14 years who ingested 1-180 g of poison. Six cases exhibited gastrointestinal symptoms, four cases showed varying degrees of lung injury, and two cases presented with severe neurological symptoms. The patients received gastric lavage, rehydration, and blood purification therapy. Ultimately, six patients survived, while two (25%) died. Additionally, sixteen cases from nine published papers were analyzed, revealing that nine cases developed different degrees of lung injury. All twelve cases reported in China survived, whereas four cases reported internationally and the two fatalities in this study exhibited earlier-onset severe neurological symptoms. Conclusion Lung injury caused by mild-to-moderate diquat poisoning in children is reversible, but severe diquat poisoning can progress rapidly and lead to multiple organ failure. Patients presenting with early severe neurological symptoms generally have a poor prognosis.

Objective To investigate the pathological distribution of pediatric renal diseases through renal biopsy analysis, thereby informing clinical diagnosis and treatment strategies. Methods The pathological data of children who underwent renal biopsy during the period from 2009 to 2022 were collected and analyzed to assess the pathological types and their characteristics. Results A total of 3 496 patients were included, with a male predominance. In infants and young children, primary glomerular diseases and hereditary kidney disorders were predominant, while secondary glomerular diseases increased significantly after school age. Primary glomerular diseases comprised 63.8% in total, with minimal change disease being the most common (42.7%), followed by IgA nephropathy (26.3%), mesangial proliferative glomerulonephritis (13.5%), and focal segmental glomerulosclerosis (7.3%). Secondary glomerular diseases accounted for 33.4%, with Henoch-Schönlein purpura nephritis (HSPN) representing 86.4% of these cases, and lupus nephritis accounting for 12.9%. Among the 60 cases of hereditary kidney diseases, Alport syndrome was the most common, accounting for 71.7%. Conclusion In the Zhejiang area, primary glomerular diseases predominate among children's kidney disorders, with minimal change disease being the most prevalent pathological type. Among secondary glomerular diseases, Henoch-Schönlein purpura nephritis is the most common. Congenital and hereditary factors should be closely monitored for infants and young children with kidney diseases.

Objective To analyze the clinical features and prognosis of hypertensive encephalopathy (HE) in children according to different potential causes. Methods The clinical data of children diagnosed with HE from January 1, 2011 to May 31, 2023 were retrospectively analyzed. According to the etiology, the children were divided into renal hypertension group and non-renal hypertension group, and the clinical features between the two groups were compared. Results A total of 24 children with HE (12 boys and 12 girls) were included, with a median age of 9.0 (7.0-12.0) years. The average systolic blood pressure was (167.1±21.4) mmHg, with a systolic pressure index of 1.5±0.2. The average diastolic blood pressure was (114.3±12.3) mmHg, with a diastolic pressure index of 1.6±0.2. The primary underlying diseases included nephrotic syndrome (3 cases), lupus nephritis (3 cases), IgA nephropathy (3 cases), and acute lymphoblastic leukemia (3 cases). Abnormalities on cranial MRI were observed in 21 children (87.5%), with 20 children showing typical lesions of posterior reversible encephalopathy syndrome (PRES) and 1 child exhibiting supratentorial hydrocephalus. Compared with the non-renal hypertension group, the renal hypertension group had a higher age, higher systolic blood pressure, higher systolic blood pressure index, higher diastolic blood pressure, higher neurological symptom score, higher incidence of nausea and vomiting, and higher incidence of epilepsy, as well as lower serum total protein and albumin levels, with statistically significant differences (P<0.05). The scores of neurological symptoms exhibited a significant positive correlation with age, systolic blood pressure, and systolic pressure index (P<0.01). The average follow-up duration for all children was (25.8±4.1) months. One child diagnosed with lupus nephritis experienced a decline in memory and calculation abilities within six months after the onset of HE. The remaining 23 children showed symptom relief following treatment with antiepileptic and antihypertensive medications, and no abnormal findings were noted during the follow-up period. Conclusions The clinical symptoms of children with renal hypertension are more severe than those of children with non-renal hypertension. Additionally, if children with renal hypertension experience sudden seizures, HE should be highly suspected, and timely antihypertensive treatment should be administered to improve the prognosis.

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 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.

Pertussis is highly contagious. With the increase in the incidence rate of pertussis in recent years, pertussis outbreaks have even occurred in some areas. The recurrence of pertussis has attracted widespread attention, among which severe pertussis poses a great threat to the life and health of infants and young children. Elevated white blood cell count, pulmonary hypertension, non-vaccination and mixed infection are all associated with severe pertussis. Due to the lack of typical clinical symptoms and signs in infants and young children in the early stage, they often fail to receive timely diagnosis and treatment, which can easily lead to severe pertussis. Therefore, it is crucial to make an accurate diagnosis and provide timely treatment for pertussis. This article reviews the pathogenesis, treatment and prevention of severe pertussis in infants and young children, in order to deepen the clinician's understanding of severe pertussis and provide reference for the prevention and treatment of severe pertussis.

Objective To select inconsistent birth weight twins who were preterm, and evaluate the relationship between birth weight and neonatal complications. Methods Twins with inconsistent birth weights who were admitted to the neonatal intensive care unit (NICU) in three hospitals in Xinxiang City from January 2018 to May 2024 were selected, totaling 112 pairs. The twins with inconsistent birth weights were divided into a higher birth weight group (n=112) and a lower birth weight group (n=112). The incidence of complications such as neonatal respiratory distress syndrome (NRDS) and respiratory support in both groups were compared. Results The lower birth weight group had more small-for-gestational-age (SGA) infants compared to the higher birth weight group, with a statistically significant difference (P<0.001). The incidence of NRDS in the higher birth weight group was higher than in the lower birth weight group (P<0.05), while the incidence of bronchopulmonary dysplasia (BPD) was lower in the higher birth weight group compared to the lower birth weight group (P<0.05). Conclusion In twins with inconsistent birth weights, those with higher birth weights are more likely to develop NRDS, while those with lower birth weights are more likely to develop BPD.

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.

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.

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.

Palliative care, as an effective method to improve the quality of life of cancer patients and their families, is still in the ice-breaking stage among children and adolescent patients in China. Currently, the percentage of pediatric and adolescent patients receiving palliative care remains low. There is still a lack of effective integration of previous research applications on end-of-life care methods for children with malignant tumors in children. Clear intervention standards are yet to be established, or unified guidelines for palliative care corresponding to children at different stages of disease progression. This article meticulously and comprehensively outlines the origins and evolution of palliative medicine within pediatrics, exploring how palliative care enhances the quality of life for pediatric oncology patients, streamlines communication and decision-making processes, and diminishes hospitalization expenses, as well as briefly outlining the barriers to the practical implementation of palliative care in children with oncology. This paper can provide some reference for the development and implementation of palliative care in China, and provide a reference for the in-depth implementation of palliative care for children with cancer.

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 application value and effect of single balloon enteroscopy (SBE) in long-term follow-up of small intestinal polyps in patients with Peutz-Jeghers syndrome (PJS). Methods The clinical data of 10 patients with PJS who were admitted to the Gastroenterology Department of Xinhua Hospital from January 2011 to June 2024 and received long-term follow-up with SBE were retrospectively analyzed. Results Among the 10 children with PJS, there were 7 boys and 3 girls. The median age at diagnosis of PJS was 9.5 (6-16) years. The median follow-up time was 132 (95-137) months, and the median follow-up interval was 17.3 months. A total of 46 SBE examinations were performed (29 via mouth and 17 via anus), and 157 polyps were treated. The median number of polyps >15 mm in diameter treated in each patient was 7 (1-13). After SBE follow-up treatment, the abdominal symptoms and anemia of the patients were significantly improved. During the follow-up period, only 1 patient needed surgery due to intussusception, which may be related to the long follow-up interval and irregular follow-up. Postoperative sore throat was found in all patients with transoral enteroscopy (100%). Abdominal distension after SBE was observed in 8 cases (17.4%). Perforation occurred in 1 case (2.2%) and improved after conservative medical treatment. Conclusions Long-term regular follow-up and preventive resection of small intestinal polyps with SBE in PJS patients is a safe and effective method, which is of great significance for improving abdominal symptoms and reducing the risk of intussusception and surgery.

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.

Objective To investigate the clinical relationship between hypopituitarism and metabolic-associated fatty liver disease (MAFLD) in children with sellar region tumor after surgery. Methods From January 2017 to December 2023, patients with hypopituitarism resulting from sellar tumors were consistently monitored for over a year. All patients were categorized into either the MAFLD (+) group or the MAFLD (-) group based on liver ultrasonography. A comparison was then made between the clinical and biochemical parameters of the two groups. Results A total of 33 patients were included, with 16 patients (48.5%) in the MAFLD (+) group and 17 patients (51.5%) in the MAFLD (-) group. There were no significant differences in age or gender between the two groups. All patients had GHD (100%) and CH (100%). AI was present in 30 patients (91%), with equal distribution between the MAFLD (+) and (-) groups (50% each). CDI was diagnosed in 22 patients (66.7%), with more patients in the MAFLD (-) group (63.6%) compared to the MAFLD (+) group (36.4%). Hypernatremia hypodipsia occurred in 7 patients (21.2%), all belonging to the MAFLD (+) group. All CH patients were treated with oral levothyroxine sodium tablets, while 30 AI patients received oral hydrocortisone tablets. The height SDS and BMI were significantly higher in the MAFLD (+) group compared to the MAFLD (-) group (P<0.001). Fasting blood glucose, insulin, HOMA-IR, ALT, γ-GT, UA, PRL, and TG levels were significantly elevated in the MAFLD (+) group compared to the MAFLD (-) group, while HDL-C levels were significantly lower (P<0.05). No significant differences were observed in IGF-1 SDS, FT₃, FT₄, T₃, T₄, TSH, TBil, AST, Alb, TC, and LDL-C between the two groups. After treatment with recombinant human growth hormone (rhGH), there was a statistically significant decrease in TG and LDL-C levels among the patients. Conclusion After surgery for sellar region tumors, patients with hypopituitarism often experience a high incidence of MAFLD and hypothalamic dysfunction. This dysfunction can manifest as hypothalamic obesity, hypernatremia, and elevated prolactin levels, all of which increase the risk of developing MAFLD. Furthermore, treatment with rhGH may help improve metabolic markers among these patients.

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.