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 Based on the body mass index (BMI) classification of Chinese population and the latest recommended range of gestational weight gain by the Chinese Nutrition Society, this study aims to evaluate the pre-pregnancy BMI and gestational weight gain status of pregnant women and further explored explore their influence on neonatal birth outcomes. Methods A total of 26 422 pregnant women who received regular prenatal examination were selected from January 2018 to December 2019 were included. The pre-pregnancy BMI, gestational weight gain of the study subjects, and their demographic characteristics among subgroups were described. Univariate and multivariate binary logistic regression analyses were employed to investigate the relationships between pre-pregnancy BMI and gestational weight gain and various neonatal outcomes (such as macrosomia, low birth weight, preterm birth, and asphyxia). Finally, a heatmap was utilized to explore the combined effect of pre-pregnancy BMI and gestational weight gain on fetal weight. Result The study found that the proportions of underweight and overweight/obese pregnant women were 13.8% and 14.7%, respectively, indicating a similar distribution. More than 50% of the participants experienced abnormal gestational weight gain. Insufficient gestational weight gain was associated with an increased risk of preterm birth. A low pre-pregnancy BMI or insufficient gestational weight gain elevated the risk of small for gestational age (SGA), whereas a high pre-pregnancy BMI or excessive gestational weight gain increased the risk of large for gestational age (LGA) and dystocia (cesarean section, forceps/vacuum extraction) (P<0.05). Multivariate analysis did not reveal a significant association between pre-pregnancy BMI, gestational weight gain, and neonatal asphyxia (P>0.05). Conclusion Abnormal gestational weight gain remains a significant issue among pregnant women, suggesting that obstetric healthcare providers and society need to strengthen the dissemination of pregnancy knowledge and weight management for pregnant women. In clinical practice, heatmaps can be utilized to assess individual risks of abnormal fetal weight and dystocia, thereby reducing adverse outcomes.

Objective To investigate the clinical characteristics and prognostic factors of children with relapsed acute lymphoblastic leukemia (ALL). Methods A total of 458 newly diagnosed ALL children who treated with the Chinese Children's Leukemia Group (CCLG) protocol at hospital between February 2006 and December 2019 were selected. Results The overall relapse rate of childhod ALL in this center was 16.6% (76/458). The mortality rate among relapsed ALL children was 57.9% (44/76), and the 5-year overall survival (OS) rate for relapsed ALL children was 38.6% ± 5.9%. Grouped by time to relapse, the cohort included 26 cases of very early relapse, 30 cases of early relapse, and 20 cases of late relapse. There was a statistically significant difference in the 5-year overall survival rate (OS) among the three groups(P<0.001). When categorized by relapse site, 57 cases involved isolated bone marrow relapse, 12 cases had extramedullary relapse, and 7 cases exhibited combined medullary/extramedullary relapse. There was a statistically significant difference in the 5-year OS rate among the three groups (P<0.05). Among the 76 relapsed children, 11 discontinued treatment, while 65 received retreatment. Among them, 14 failed to achieve a second complete remission (CR2), whereas 51 attained CR2. There was a statistically significant difference in the 5-year OS rate between the two groups (P<0.001). Based on post-relapse treatment modalities,the patients were divided into allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group (22 cases, 33.8%), chimeric antigen receptor T-cell immunotherapy (CART) group (8 cases, 12.3%), CAR-T combined with Allo-HSCT group (14 cases, 21.5%), and chemotherapy and/or targeted therapy group (21 cases, 32.2%). There was a statistically significant difference in the 5-year OS rate among the groups (P<0.001). Univariate prognostic analysis revealed that initial white blood cell count>100×10⁹/L, initial risk stratification, relapse time, relapse site, post-relapse risk stratification, post-relapse treatment modality, and failure to achieve CR2 were independent risk factors affecting the prognosis of relapsed ALL children (P<0.05). Multivariate analysis using the Cox regression model identified very early relapse and failure to attain CR2 after relapse as independent risk factors for poor prognosis in relapsed ALL children (P<0.05), while post-relapse treatment with CAR-T bridging to allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was a protective prognostic factor. Conclusions The predominant relapse pattern in our center was early recurrence, with bone marrow being the main relapse site. Multivariate analysis revealed that very early relapse and failure to achieve CR2 were independent adverse prognostic factors (P<0.05). CART combined with Allo-HSCT significantly improved outcomes in children with relapsed ALL.

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.

Objective To investigate the effect of multisensory stimulation on the brain function development of hospitalized preterm infants and provide references for clinical practice. Methods preterm infants with a gestational age of 30 to 33⁺⁶ weeks were randomly divided into two groups. The control group was only given routine care for preterm infants, including close observation, creating a suitable environment, maintaining warmth, and preventing infections. The intervention group received multi-sensory stimulation daily on the basis of routine care, including playing the mother's voice, touching, red ball visual stimulation, and droplet feeding of breast milk on the anterior part of the tongue. The intervention period was 14 days. Results There was no statistically significant difference between the baseline data of preterm infants and mothers in the two groups (P >0.05), and the comparison of the NBNA scores and aEEG results before and after the intervention showed statistically significant differences (P<0.05). Conclusion Multisensory stimulation for preterm infants can effectively improve the brain function development of the infants.

Objective To summarize the clinical characteristics of gastrointestinal foreign bodies in children, analyze the diagnosis, treatment, and outcomes of different types of foreign bodies, and provide references for clinical management and risk prevention of pediatric foreign body ingestion. Methods Clinical data of 614 pediatric patients with gastrointestinal foreign bodies from July 2021 to July 2024 were retrospectively collected and analyzed. Results A total of 614 cases were included, with a male-to-female ratio of 1.7:1. The mean age was 4.12 ± 3.07 years, and the highest incidence was among children aged 1-3 years (52.34%). Blunt foreign bodies with smooth and round surfaces were the most common (60.58%), followed by corrosive foreign bodies (8.47%) and other unclassifiable objects (2.12%). Among the cases, 153 (24.92%) were managed conservatively and excreted spontaneously, 442 (71.99%) were removed via endoscopy or surgical exploration, and 19 (3.09%) involved liquid ingestion. The esophagus was the most common site of impaction (48.05%). Complications occurred in 152 (24.76%) children, with mild gastrointestinal mucosal injury being the most common, followed by peptic ulcers (4.72%), gastrointestinal perforations (6.19%), corrosive injuries (1.95%), and esophageal strictures (0.65%). The occurrence of complications was not associated with gender or age (P>0.05), but was significantly related to factors such as admission interval, sharp or corrosive nature of the foreign body, location (upper vs. lower gastrointestinal tract), presence of underlying diseases, habitual residence, and symptoms at presentation (P<0.05). Risk factors for complications included sharp or corrosive foreign bodies, retention time >24 hours, location in the lower gastrointestinal tract, and symptoms at diagnosis (P<0.05). Conclusion Timely removal of gastrointestinal foreign bodies can reduce the incidence of complications. The type of foreign body significantly influences clinical management and prognosis, with particular attention needed for novel or special types of foreign bodies. Strengthening preventive care and avoiding foreign body ingestion are crucial in reducing the incidence of such cases.

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.

Sleep disorders are one of the most common comorbidities in children with autism spectrum disorders (ASD), which not only impair the child's daytime function, but also aggravate the symptoms of ASD, and significantly reduce the quality of life of children with ASD and their families. Therefore, timely and effective intervention and management of children with ASD with comorbid sleep disorders is of great significance to improve the health, social function and quality of life of children. This article reviews the progress in the treatment of sleep disorders in children with ASD, aiming to improve the understanding of autism among clinicians.

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.

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 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.

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.

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.

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.

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.

Objective To explore the impact of gestational diabetes mellitus (GDM) on lipid metabolism in pregnant women and neonates at different gestational weeks, as well as the expression of placental lipid transport enzymes. Methods A retrospective analysis was conducted on clinical data from pregnant women and their neonates who delivered between January 2022 and December 2022. Placentas were collected from women who delivered between August 2023 and October 2023. Participants were divided into a GDM group and a control group based on the presence or absence of GDM. The serum lipids were compared between the two groups for both pregnant women and neonates. Additionally, differences in the expression of endothelial lipase (EL) and lipoprotein lipase (LPL) in placental tissue were compared between the two groups. Results A total of 541 full-term pregnant women were included, with 123 in the GDM group and 418 in the control group. There were 203 pregnant women with premature delivery, with 110 in the GDM group and 93 in the control group. Among full-term pregnant women, compared with the control group, the GDM pregnancies had greater weight gain and a higher rate of cesarean section, and the differences were statistically significant (P<0.05). However, the premature pregnant women with GDM had a smaller gestational age at delivery and less weight gain during pregnancy than those in the control group (P<0.05). Both in full-term and premature pregnancies, compared with the control group, triacylglycerol (TG) was higher and high-density lipoprotein cholesterol (HDL) was lower in the GDM group before delivery, and the difference was statistically significant (P<0.05). In GDM group, 77 full-term newborns were admitted to NICU, and 77 newborns were matched according to gestation week and birth date at a 1:1 ratio as control group; Total cholesterol (TC) and TG in the GDM group were higher than those in the control group, while HDL was lower than that in the control group, and the difference was statistically significant (P<0.05). In the placentas of full-term pregnant women, the expression of EL in the GDM group was significantly increased (P<0.05), but there was no difference in LPL expression between the two groups (P>0.05). In pregnant women with premature delivery, both EL and LPL had no differences in expression between the two groups (P>0.05). Conclusions GDM was associated with lipid metabolism disorders during pregnancy, but only in full-term newborns. Placental EL may be involved in the occurrence of lipid metabolism disorders in full-term newborns delivered by GDM mothers.

Objective The clinical phenotype and gene variation spectrum of children with congenital long QT syndrome (LQTS) were summarized and analyzed to explore the potential correlation between LQTS genotype and clinical phenotype. Methods Fourteen unrelated LQTS families admitted to the Department of Cardiology from November 2018 to November 2023 were selected as the study objects. The clinical data of the children were collected, whole exome sequencing of family was performed, candidate variants were verified by Sanger sequencing, and the children were treated and followed up. Results The median onset age of the 14 patients (6 boys and 8 girls) was 82.5 (37.5-129.8) months. Fourteen patients started with sudden cardiac arrest, syncope or Adams-Stokes syndrome. A total of 5 genes (KCNQ1, KCNH2, SCN5A, CACNA1C, and CALM1) were detected with variations, and according to the grading standard of the American College of Medical Genetics and Genomics (ACMG), all variations were pathogenic or likely pathogenic. Among them, SCN5A (NM_198056.2) c.796C>G (p.Leu266Val) has not been reported in the literature in the past, and according to the ACMG guidelines, it is determined to be a likely pathogenic variant (PS2+PM2_Supporting+PP3). All 14 children were treated with β-blockers, 2 of whom were also treated with mexiletine. During follow-up until March 31, 2024, there were 3 deaths. One child had an episode of Adams-Stokes syndrome due to self-discontinuation of medication, and the remainder had no further syncope. Conclusions In this study, a novel variant c.796C>G (p.leu266val) of SCN5A gene was found, expanding the spectrum of SCN5A gene variants associated with congenital LQTS. There are various forms of congenital LQTS, and an electrocardiogram should be performed for children with suspected LQTS, which in combination with genetic testing can lead to a definitive diagnosis of the disease.

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.

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.

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.

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.

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.

To preliminarily explore the feasibility and effectiveness of olfatomuzumab (OFA) in the treatment of patients with refractory neuromyelitis optica spectrum disorder (NMOSD). A 15-year-old adolescent female with seropositive AQP4-IgG and multiple relapses of refractory neuromyelitis optica spectrum disorder was given intravenous methylprednisolone, immunoglobulin, rituximab (RTX), and oral prednisone and mycophenolate mofetil for 5 years. She started to receive 4 doses of OFA (20 mg, subcutaneous injection) at intervals 9 months ago. The patient was observed for NMOSD recurrence, serum AQP4-IgG antibody titer, peripheral blood B cell level, and changes in cranial and spinal cord MRI during the 9-month period of OFA treatment. The patient's symptoms were stable without recurrence during the 9-month period of OFA treatment. The serum AQP4-IgG titer decreased, and the lesions in the cranial and spinal cord MRI decreased. There were no new lesions, and the tolerance was good without anaphylactic reactions or infectious adverse events. In addition to complete depletion of B cells, no lymphopenia or hypogammaglobulinemia was found. For patients with refractory NMOSD or other intolerant to immunotherapy, subcutaneous injection of OFA may be a safe and effective alternative treatment.

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 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 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 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 summarize the clinical characteristics of 9 children who underwent lung transplantation, explore the prognosis and immune profiles of these children, and furnish references for clinical diagnosis and treatment. Methods A retrospective analysis was conducted on the clinical data and prognosis of 9 children who underwent lung transplantation and were hospitalized in our hospital from January 2019 to June 2023. Results Among the 9 children, 3 were male and 6 were female. The underlying diseases comprised pulmonary fibrosis, idiopathic pulmonary arterial hypertension, obliterative bronchiolitis, interstitial lung disease, and cystic fibrosis. All children underwent bilateral lung transplantation, with an average age of 7.83 (4.79 - 9.34) years at the time of transplantation. Four children developed bronchial stenosis, among which all 3 children were under 7 years old and 2 were diagnosed with bronchiolitis obliterans syndrome (BOS) related to chronic allograft dysfunction. Compared with the normal reference values, the proportions of CD3⁺T and CD8⁺T cells were elevated in six children, and the proportions of CD4⁺T cells and CD4⁺T/CD8⁺T were decreased in four and eight children, respectively. Immune abnormalities were more pronounced in children under 7 years old. Two children with BOS developed post-transplant lymphoproliferative disorder (PTLD), and both were diagnosed with diffuse large B-cell lymphoma through biopsy. The follow-up period was 2.67 (1.67-3.17) years. Two children with BOS died at 1.33 years and 1 year after transplantation, both succumbing to typeⅡ respiratory failure. All children over the age of seven were taking oral immunosuppressive drugs at home and were capable of performing simple physical activities and daily life. Conclusion BOS and PTLD are life-threatening complications for children under 7 years old who have undergone bilateral lung transplantation, being closely associated with abnormal T lymphocyte subsets. The survival period after lung transplantation is shorter for younger children, and their lung structure and immune status are key factors influencing prognosis. With the increasing number of children undergoing lung transplantation, it is necessary to further expand the case numbers and deepen age group studies to optimize clinical diagnosis and treatment strategies, prolong the survival period of children, and enhance their quality of life.

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.

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 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.

Pediatric acute ischemic stroke is a rare condition with a poor prognosis and significant recurrence rates. Intravenous tissue plasminogen activator (IV-TPA) has been proven to be an effective treatment for acute ischemic stroke (AIS) in adults, but it has not been licensed for use in children. The safety and efficacy of IV-TPA in children should be investigated further. This article reviews the research on IV-TPA treatment in children with pediatric acute ischemic stroke.

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.

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.

Objective The purpose of this study was to retrospectively analyze the main factors affecting the prognosis of pediatric intracranial embryonal tumor with multilayered rosettes (ETMR) and to provide effective suggestions for improving the prognosis of children with this condition. Methods From January 2013 to December 2023, clinical data were collected from 29 patients with ETMR who underwent surgery and were diagnosed postoperatively. Data were obtained from medical records and telephone follow-ups. A total of 17 patients who completed follow-up were included in the analysis. The clinical data of these 17 children with ETMR were retrospectively reviewed, summarizing their gender, age, tumor location, clinical manifestations, extent of surgical resection, postoperative radiotherapy and chemotherapy, recurrence and metastasis, as well as prognosis. Results Among the 17 patients, 11 were diagnosed with ETMR, 2 with embryonal tumor with abundant neuropil and true rosettes (ETANTR), and 4 with medulloepithelioma (MEPL). The median age at diagnosis was 2.5 years (range: 11 months and 20 days to 8.6 years). The study endpoint was death, with a median survival time of 8 months (range: 0 to 130.5 months). The 1-year progression-free survival (PFS) and overall survival (OS) rates were 18% and 41%, respectively, while the 3-year PFS and OS rates were 18% and 24%, respectively. Thirteen patients (76%) died due to tumor-related complications, progression, or recurrence. Survival analysis showed that gender, postoperative radiotherapy, chemotherapy, and combined chemoradiotherapy had statistically significant effects on overall survival (P<0.05). Conclusion ETMR is a highly invasive tumor with a high mortality rate. Treatment typically begins with maximum surgical resection. Gross total resection, postoperative radiotherapy, chemotherapy, or combined chemoradiotherapy are associated with better prognosis.