Objective To understand the prevalence of respiratory syncytial virus (RSV) and co-positivity of other pathogens before, during and after COVID-19 pandemic, and to provide evidence-based support for improving the prevention and treatment of acute respiratory tract infections (ARTIs) in children. Methods The pathogen detection results of ARTIs children aged ≤16 years who were admitted to the Children's Hospital of Soochow University from January 2016 to May 2024 were retrospectively analyzed. The characteristics of RSV epidemics and mixed positivity for other pathogens in the first year of the COVID-19 epidemic (2020, Stage Ⅰ), the second and third years (2021-2022, Stage Ⅱ) and the post-COVID-19 epidemic (January 2023 to May 2024, Stage Ⅲ) were compared with those in the pre-epidemic period. Results The study included 83356 children with ARTIs, with 11277 (13.5%) testing positive for RSV, 5605 (6.7%) testing positive for RSV alone, and 5672 (6.8%) testing positive for RSV in combination with other respiratory pathogens. In RSV positive children, the detection rates of bacteria, other viral pathogens and atypical pathogens were 39.5%, 13.6% and 5.7%, respectively. RSV test positive rates decreased in 2020 and 2022, while RSV test positive rates increased in 2021, 2023 and 2024 compared with predicted positive rates. There were significant differences in age, epidemic period and season between single RSV positive group and mixed RSV positive group (P<0.001). In stage Ⅲ, the positive rate of RSV mixed with other pathogens was significantly higher than that of single RSV, and the difference was statistically significant (P<0.01). The detection rate of influenza A/B viruses, human parainfluenza virus, adenovirus, human metapneumovirus, Mycoplasma pneumoniae, Chlamydia pneumoniae and Haemophilus influenzae was significantly higher in children with RSV. Conclusions The COVID-19 pandemic had an adverse impact on the prevalence of RSV and the diagnosis and treatment of mixed-positive cases of other pathogens, and the resurgence of mixed-positive RSV and the escalation of infections should be monitored for a long time after COVID-19.

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.

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 explore the risk factors of death from influenza A (H1N1)-associated encephalopathy (IAE) in children, and to provide evidence for early clinical diagnosis and intervention. Methods The clinical data of children with H1N1 IAE admitted to the hospital from January 2014 to December 2020 were retrospectively analyzed, and they were divided into the survival group and the death group according to prognosis. The risk factors associated with death in children with H1N1 IAE were analyzed by binary logistic regression. Results A total of 59 children (39 boys and 20 girls) with H1N1 IAE were included. The median age was 42 (21-73) months, and 66.1% (39/59) of the children were <5 years old. The median time between the onset of neurological symptoms and fever was 1 (0.5-2) days. Thirty-three patients (55.9%) had severe pneumonia and respiratory failure, and 1 of them had plastic bronchitis. Fifty-eight children were treated with oseltamivir. The median time from onset to use of anti-influenza drugs was 2 (1-4) days. Forty-eight patients were discharged from hospital with improvement and 11 died (18.6%). The median time from admission to death was 3 (1-5) days. Compared with the survival group, the death group presented higher incidences of consciousness disorder, respiratory failure, and brain herniation, a greater proportion of cases requiring mechanical ventilation treatment, a higher neutrophil count, elevated levels of procalcitonin, blood glucose, aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase, a longer prothrombin time, a higher ratio of abnormal head CT findings, and a lower monocyte count. All the differences were statistically significant (P<0.05). The results of binary logistic regression analysis revealed that elevated neutrophil count and lactate dehydrogenase levels might be associated with the occurrence of death in children with H1N1 IAE (P<0.05). Conclusions For children with H1N1 IAE, the risk of death may increase with elevated neutrophil counts and lactate dehydrogenase levels.

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 The pursuit of salvage treatment for refractory macrophage activation syndrome (MAS) associated with systemic juvenile idiopathic arthritis (sJIA) is of paramount importance. This paper aims to investigate the application options and therapeutic efficacy of ruxolitinib in the treatment of refractory sJIA-MAS. Methods A retrospective analysis was performed on the clinical data of a child with refractory sJIA-MAS and the outcome following the administration of ruxolitinib. Results An 11-year-old girl, diagnosed with sJIA for four years and having experienced two previous episodes of MAS, was admitted to the hospital due to active sJIA and developed MAS again during the treatment course. Despite three rounds of high-dose methylprednisolone pulse therapy in combination with cyclosporine A and tocilizumab (TCZ), her condition failed to improve, with persistent high fever and severe liver function impairment, among other abnormal laboratory indicators. After discontinuing TCZ and initiating ruxolitinib with an adjusted oral dose of 10 mg twice daily, the child's condition improved, enabling a smooth reduction of the hormone dosage. Ruxolitinib was discontinued after approximately three months of treatment, and there was no recurrence of the disease. Conclusion Ruxolitinib may potentially serve as a salvage treatment option for refractory sJIA-MAS.

Catecholaminergic polymorphic ventricular tachycardia is a hereditary cardiac channelopathy. Most cases are related to mutations in the RYR2 and CASQ2 genes, which severely disrupt the calcium homeostasis in cardiac cells. Excessive calcium release leads to delayed depolarization, ultimately leading to arrhythmia. This disease is seen in patients who experience syncope after intense exercise or stress-related emotions, as well as in patients with sudden cardiac arrest or even sudden cardiac death. It is mainly diagnosed through exercise stress testing and genetic testing. Standard treatment for CPVT relies on beta-blockers, while flucainide and left ventricular sympathetic nerve denervation are second-line treatments. Implantation of cardioverter defibrillators is suitable for patients at a high risk of sudden death, and some potential therapeutic interventions have also been identified. This review summarizes the genetics, pathophysiology, clinical features, diagnosis, and treatment strategies of CPVT, with the aim of providing clinical guidance.

Objective To raise the awareness of Pneumocystis jirovecii pneumonia (PCP) in children complicated with severe pertussis, and to enable early diagnosis for improved prognosis. Methods The clinical data of children diagnosed with severe pertussis complicated by PCP from January 1, 2020 to December 31, 2023 were retrospectively analyzed. Results Five cases were enrolled, with one male and four females. The median age was 3.0(2.5-10.0) months, and the median hospital stay was 17.0(7.5-23.5) days, with three deaths recorded. All cases experienced apnea and hypoxemia, with 3 cases presented acute respiratory distress syndrome (ARDS), and 3 cases developed pulmonary hypertension and pertussis encephalopathy. The peak of leucocyte count were 43.8(25.2-87.8)×10⁹/L, which decreased to a post-treatment median of 8.5(5.0-36.5)×10⁹/L, and the median LDH was 942.0(466.5-1837.0) U/L. All 5 cases were treated with azithromycin before diagnosis of PCP, and co-trimoxazole combined with echinocandin were administered additionally for PCP, while 2 survivors were treated within 5 days. Conclusion PCP can occur in severe pertussis children without immunodeficiency, and there is a high risk of death when severe pertussis is complicated by PCP. When the routine treatment for severe pertussis in children has poor efficacy, it is necessary to be alert for Pneumocystis jirovecii infection. Early combined use of co-trimoxazole with echinocandin may improve prognosis.

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.

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.

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 and genetic characteristics of PRKAG2 cardiac syndrome (PCS) in Chinese pediatric patients. Methods A retrospective analysis was conducted on the clinical data and genetic testing results of patients diagnosed with PCS at Shanghai Children's Medical Center from September 1999 to October 2022. Results Seven pediatric patients were included in this study, six males and one female, with a median age of onset of 9.0 (3.0-12.0) years. Five patients had varying degrees of left ventricular hypertrophy, four had ventricular preexcitation, two had atrioventricular conduction block, and one experienced sinus arrest.Six variants in the PRKAG2 gene were identified among the seven patients, including two novel mutations (F293V, Q337H). During a median follow-up of 3.0 (2.0-3.8)years, one patient progressed to end-stage heart failure and underwent heart transplantation, one received a pacemaker due to complete atrioventricular block, and two underwent septal reduction therapy for left ventricular outflow obstruction (septal myectomy or septal radiofrequency ablation, respectively). Conclusions PCS is a rare cause of hypertrophic cardiomyopathy in children, often associated with conduction system abnormalities. It is crucial to consider screening for PCS in pediatric patients with hypertrophic cardiomyopathy who present with pre-excitation syndrome or bradyarrhythmias.

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.

Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.

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 analyze the epidemiological characteristics of human bocavirus (HBoV) in hospitalized children with acute respiratory tract infections, and to provide evidence for the diagnosis and prevention of acute respiratory infection in children. Methods A retrospective analysis was conducted on the etiological test data of sputum or bronchoalveolar lavage fluid from children hospitalized due to acute respiratory tract infections in a hospital in Shijiazhuang from March 2021 to February 2024. Detection was carried out using a multiplex detection kit for 13 respiratory pathogens. The epidemiological characteristics of HBoV, including population distribution and seasonal distribution, were described and analyzed. Results The total detection rate of HBoV was 3.73% (1315/35220), with a higher detection rate in male (3.91%) than in female (3.49%) (χ²=4.08, P<0.05). The detection rate is highest in the 1- <3 years old group (9.25%, 722/7805), followed by the 3- <6 years old group (3.42%, 362/10585). There was a statistically significant difference in detection rates among different age groups (χ²=989.15, P<0 001). The detection rate of HBoV varied in different years. The highest detection rate was in 2021 - 2022 (5.20%, 443/8519), and the lowest was in 2022 - 2023 (2.22%, 204/9195), with a statistically significant difference (χ²=110.02, P<0.001). During the study period, the highest detection rate was 8.56% (823/9610) in summer, followed by 3.15% (276/8773) in autumn. And there was a statistically significant difference detection rates among different seasons(χ²=939.36, P<0.001). Among the patients with HBoV infection detected, 557 cases had no other pathogens detected, while 758 cases were co-infected with at least one other pathogenic microorganism. Conclusions HBoV is a common pathogen of acute respiratory infections in children in Shijiazhuang. It is more common in children aged 1- <3 in summer and autumn, with more males than females. It is often co-detected with other respiratory pathogens.

Objective To investigate the clinical and genetic characteristics of children with epilepsy caused by variations of the KCNQ2 gene (OMIM #602235). Methods The clinical data of 24 children with KCNQ2 gene variants (NM_172107) detected by whole-exome sequencing (WES) from October 2018 to November 2022 were analyzed, and the genotypic characteristics and treatment were analyzed. Results A total of 24 children (14 boys and 10 girls) with epilepsy caused by KCNQ2 gene variations were included. The age of the first seizure in these children ranged from 17 hours after birth to 5 years old. Among them, 16 children (66.7%) were younger than 6 months. According to the clinical prognosis, there were 1 case of benign familial neonatal epilepsy (BFNE), 6 cases of benign familial infantile epilepsy (BFIE), 4 cases of self-limited epilepsy syndrome that could not be classified, and 13 cases of KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE). The main genetic variation was missense mutation (62.5%), and 7 new KCNQ2 mutation sites were found. Among them, c.1411C>T was evaluated as pathogenic, c.602G>C, c.1031G>A, c.2159_2173del (p.720_725delinsR) was evaluated as likely pathogenic. The median follow-up time of the 24 patients was 40 months. 13 patients had varying degrees of developmental delay in KCNQ2-DEE, and the remaining 11 patients had good overall prognosis and normal cognitive development. Conclusions The age of seizures associated with KCNQ2 variation is mainly distributed in the neonatal period and early infancy. The prognosis of KCNQ2-DEE is poor. It is recommended that genetic testing should be performed as early as possible for the diagnosis of unexplained seizures in infancy.

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.

Vegetarian diets have become increasingly popular due to their perceived health benefits, with the majority of research focusing on the nutritional status and disease implications in adults. However, less attention has been paid to children and adolescents with plant-based food pattern. This review has systematically searched 24 relevant researches on vegetarian children and adolescents up to August 2023 and summarized the overall nutritional status, including vitamin B₁₂, vitamin D, calcium and iron. Additionally, it has demonstrated the impact of vegetarianism on growth and its association with diseases of vegetarian children and adolescents. Further, more studies are warranted to enhance health workers’ understanding about healthy vegetarian patterns and provide scientific evidence to guide children and adolescents to have a balanced vegetarian diet, and potentially inspire new approaches to dietary therapy for metabolic diseases.

Spinal muscular atrophy (SMA) is a rare autosomal recessive disease of progressive, symmetrical proximal limb and trunk muscle weakness and atrophy caused by degeneration of motor neurons in the anterior horn of the spinal cord. SMA patients are often accompanied by scoliosis, joint contracture, respiratory insufficiency, osteoporosis, restricted mouth opening, malnutrition and other damage symptoms involving multiple systems, and the treatment of the disease requires multidisciplinary intervention. Multidisciplinary diagnosis and treatment of SMA can effectively shorten the diagnostic time, improve the life quality of patients. This study, through a literature review, sorts out the development of multi-disciplinary diagnosis and treatment of SMA in disease diagnosis and treatment, and the implementation of three-level prevention and control at home and abroad in recent years, providing research basis for the future improvement of multi-disciplinary diagnosis and treatment of SMA.

After the outbreak of COVID-19, the epidemiology of different pathogens causing childhood respiratory infections in different geographical regions around the world has changed, and the similar changes have occurred in China. These changes have greatly increased the difficulties in preventing and treating pediatric respiratory infections in clinical practice. Therefore, this paper aims to summarize the epidemiological changes of different pathogens in children with respiratory tract infection after the epidemic, in order to provide some ideas for the precise prevention and treatment of the disease.

Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. The involvement of the kidneys in systemic lupus erythematosus (SLE) is referred to as lupus nephritis (LN), which serves as a critical factor influencing the prognosis of SLE. Belimumab is a recombinant human IgG1λ monoclonal antibody targeting B-lymphocyte stimulator, which inhibits B cell function by promoting B cell apoptosis. Belimumab can improve the response index and disease activity score of SLE, and delay the progression of LN. As a clinical pediatric nephrologist, the author explores some personal advices on the treatment of LN in children with Belimumab.

A 12-year-old female SLE patient with lupus nephritis (class Ⅳ) and TMA was admitted to our hospital. After treatments including blood purification, methylprednisolone and CTX pulse therapy, even belimumab infusion, she still exhibited renal dysfunction and abnormal blood tests including decreased levels in platelet count, hemoglobin and fragmented red blood cells. Further tests showed normal activity of the von Willebrand factor-cleaving protease, negative antiphospholipid antibodies, and significantly elevated soluble c5-9 levels. After initiating treatment with eculizumab, the patient's condition improved. The patient remained stable during a three-month follow-up. This case provides clinicians with insights into the treatment of SLE complicated by TMA. Early identification of complement involvement and prompt initiation of eculizumab treatment can significantly improve the patient's long-term prognosis.

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.

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 diagnosis and treatment process of Dieulafoy's disease in children, and explore the clinical characteristics and treatment options of the disease. Methods A retrospective analysis was conducted on the clinical data of a child with bronchial Dieulafoy disease, and relevant literature reports were summarized. Results The patient was an 11-year-old female with acute onset, presenting with cough and hemoptysis, without extrapulmonary symptoms. Bronchoscopy showed a smooth mucosal protrusion at the opening of the right middle and lower lobes, and bronchial artery embolization was considered after bronchial angiography. There was no recurrence of bleeding after bronchial artery embolization treatment. A total of 14 case reports were retrieved, including 17 children, with age of onset ranging from 8 months to 18 years, with a predominance in males. All cases presented with hemoptysis, all the lesions occurred in the right lung. Among the 16 children treated with bronchial artery embolization and/or lobectomy, there were no recurrences, except for 1 child who had hemoptysis again after two bronchial artery embolizations and right upper lobe resection, but did not have a recurrence within 1 year of conservative follow-up. Conclusion Bronchial Dieulafoy disease in childhood is rare. For children with unexplained hemoptysis, nodular elevations seen on bronchoscopy need to be carefully differentiated to avoid blind biopsy. Bronchial artery angiography plays an important role in diagnosing this disease. Bronchial artery embolization is the main treatment for children with bronchial Dieulafoy disease, and if the hemoptysis persists, a lobectomy of the bronchus and lung may be performed.

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.

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.

Pediatric inflammatory bowel disease (IBD) is a chronic, recurrent inflammatory condition of the intestines with unknown etiology and complex pathogenesis, posing significant challenges in diagnosis and treatment. IBD severely impacts the growth and development of affected children, diminishes their quality of life, and may negatively influence their psychological and social behavior, imposing a substantial economic burden on society. In recent years, the incidence of pediatric IBD in China has been on the rise, drawing significant attention from pediatricians. Establishing a new model of precision therapy for pediatric IBD has become a goal for pediatricians and scholars worldwide. Precision medicine has proven effective in early screening and diagnosis of cancers and neonatal genetic diseases, providing new methods and perspectives for the treatment of pediatric IBD. This paper reviews the current application of precision therapy in pediatric IBD, elucidating its role in the treatment of pediatric IBD.

Objective To summarize the efficacy and safety of burosumab in the treatment of X-linked hypophosphatemic rickets (XLH). Methods The clinical data of a child hospitalized in the Department of Endocrinology and Metabolism in August 2022 who was treated with burosumab for XLH due to PHEX gene variation were retrospectively analyzed, and the relevant literature was reviewed. Results A 5 years and 11 months old boy was treated for "malformation of both lower limbs for 3 years with bone pain for 2 months". The blood phosphorus value at admission was 0.82 mmol/L. The X-ray examination of the bones showed cup-shaped and brush-like changes at the epiphysis of the long bones, and the changes in all the bones were consistent with the symptoms of rickets. The mother of the child had symptoms of short stature, malformation of both lower limbs with bone pain. The genetic testing found a variation of c.1282C > T, p.Gln428* in the PHEX gene in the child, which came from his mother. After treatment with burosumab, blood phosphorus value was increased, alkaline phosphatase and parathyroid hormone levels were decreased, growth rate was increased, bone pain was improved, activity tolerance was improved, bone deformities were significantly improved, and no drug-related adverse reactions occurred. Conclusions Burosumab can be used for the treatment of children with XLH due to PHEX gene variation, and it can improve several indicators and has good safety.

Objective To analyze the clinical features of neonatal enterovirus infection and to explore the effect of antibiotic management improvement on reducing the use of antibiotics in children with enterovirus infection. Methods A retrospective analysis was performed on the clinical data of neonates diagnosed with enterovirus infection who were admitted to the Neonatal Department between January 2019 and December 2023. The subjects were categorized into a general infection group and a severe infection group based on the presence or absence of organ failure, and comparative analyses of clinical characteristics between the two groups were conducted. Results A total of 153 neonates with enterovirus infection were included in the study, with the peak incidence occurring from May to July. There were 94 boys and 59 girls. The gestational age was 39.3 (38.1-40.3) weeks, and the birth weight was 3200.0 (2950.0-3450.0) g. There were 35 early neonates, and the age of onset was 15.0 (8.0-23.0) days. Among all the patients, 146 had the initial symptoms of fever, 152 had fever during the course of the disease, and the course of fever was 1.8 (1.5-2.4) days. The median white blood cell count at admission was 5.0 (3.5-7.2)×10⁹/L and the median C-reactive protein level was 2.4 (0.5-7.3) mg/L. The median procalcitonin level was 0.2 (0.1-0.3) ng/mL. All 146 patients in the general infection group were discharged after improvement. Among the 7 patients with severe infection, 4 were complicated with hemorrhagic hepatitis syndrome and 2 died; 3 patients were complicated with myocarditis and 2 died. Compared with the general infection group, the infants in the severe infection group had a lower gestational age, a higher proportion of poor appetite and poor reaction during the course of the disease, lower hemoglobin and platelet counts, higher levels of lactic acid, aspartate aminotransferase, alanine aminotransferase, creatine kinase, and creatine kinase MB isoenzyme, with statistically significant differences (P<0.05). A total of 9 serotypes were detected in PCR positive samples of enterovirus, among which Coxsackie virus B3, Echovirus 12 and Echovirus 30 were the most common, accounting for 62.7%. After the implementation of antibiotic management quality improvement, the utilization rate of antibiotics was lower in neonates with enterovirus infection, and the duration of antibiotic use and hospital stay were shorter, and the differences were statistically significant (P<0.05). Conclusions The neonatal enterovirus infection is mainly mild, but the mortality of severe infection is high. There are some differences in the laboratory results between mild and severe patients. Enterovirus PCR, sequencing typing and antibiotic management improvement measures are helpful for reasonable diagnosis and treatment.

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.

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 The aim of this study was to explore the clinical and genetic characteristics of 7 pediatric patients with neurodegeneration with brain iron accumulation (NBIA). Methods Genetic mutation analysis was conducted on patients suspected of having NBIA using whole exome sequencing (WES), followed by Sanger sequencing for positive cases. A retrospective analysis of the patients' clinical data was performed alongside a literature review. Results Seven patients, comprising five boys and two girls with an average age of 5.4±3.8 years, presented to the hospital primarily due to motor developmental delay. The main clinical manifestations included intellectual disability, gait disorders, abnormal posture, delayed or regressed psychomotor development, muscle weakness, cerebellar ataxia, and retinitis pigmentosa. WES identified pathogenic mutations in NBIA-related genes in all 7 patients, specifically PANK2 in one case, FA2H in one case, and PLA2G6 in five cases. Patients with PLA2G6 variations exhibited early onset, developmental delay, muscle weakness, low signal iron deposition in the pallidus, and cerebellar atrophy. The patient with a PANK2 gene mutation showed gait and postural abnormalities, while the patient with an FA2H mutation presented with language delay, gait abnormalities, and dysmyotonia. Conclusion There is significant heterogeneity in the clinical phenotype of NBIA patients, with neurological abnormalities being the predominant feature. Two previously unreported variants were identified, broadening the spectrum of genetic variations in NBIA disease.

Objective To investigate the correlation between peripheral blood myeloid-derived suppressor cells (MDSCs) levels and the severity of necrotizing enterocolitis (NEC), and the biological characteristics of MDSCs in NEC infants. Methods The single-cell sequencing dataset of peripheral blood from NEC patients was downloaded from the GEO database and analysed by quality control, batch correction, clustering dimensionality reduction and cell type annotation. The number and proportion of MDSCs in the peripheral blood of NEC patients at different disease stages were calculated. Subsequently, MDSCs subsets were extracted, differentially expressed genes and enrichment pathways were analysed, and the expression of MDSC immunosuppressive function, apoptosis and chemotaxis related molecules were compared. Results As the severity of NEC increased, the corresponding number and proportion of MDSCs gradually decreased. Compared with stage II NEC patients, upregulated genes in MDSCs of stage III NEC patients were enriched in multiple pathways, such as positive regulation of leukocyte activation and negative regulation of locomotion. And there was no significant difference in immunosuppressive function and apoptotic pathway activation between MDSCs from stage II and III NEC patients, whereas the expression of chemokine receptor CXCR1 was significantly decreased in MDSCs from stage III NEC patients. Conclusion The number of MDSCs in the peripheral blood of NEC patients was inversely correlated with the severity of NEC. And the reduction of MDSCs in stage III NEC patients could be attributed to the downregulated expression of CXCR1.

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.

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

Objective To 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 To analyze the predictive value of ferroptosis-related genes for the surgical treatment risk of children with ulcerative colitis (UC). Methods A total of 331 children with UC were selected from the GSE150961 dataset in the GEO database as the research subject. The rectal biopsy specimens were obtained from UC children during diagnostic colonoscopy, and the children followed up for 1 year after diagnosis. Among them, 21 children progressed to colectomy treatment and served as the surgical group, while 310 children served as the non-surgical group. The differentially expressed ferroptosis-related genes in the rectal tissues of the two groups of children were screened out, and their predictive values for the risk of surgical treatment were investigated. Their correlations with immune cell infiltration, inflammatory factors, and genes related to intestinal epithelial barrier function were examined. Results The non-surgical group consisted of 310 cases, including 158 males and 152 females, with an average age of 12.9±3.2 years; the surgical group consisted of 21 cases, including 12 males and 9 females, with an average age of 13.6±2.7 years. Two genes, solute carrier family 7 member 5 (SLC7A5) and Bcl2/adenovirus E1B interacting protein 3 (BNIP3), were screened out as differentially expressed ferroptosis-related genes in the rectal tissues of the two groups of children. Compared with the non-surgical group, the expression levels of SLC7A5 and BNIP3 in the rectal tissues of the surgical group were significantly increased (P<0.001). The results of multivariate Logistic regression analysis showed that SLC7A5 and BNIP3 were risk factors for the progression of UC children to require colectomy treatment (P<0.01). The results of the receiver operating characteristic (ROC) curve showed that the areas under the curve (AUC) of SLC7A5 and BNIP3 in predicting colectomy treatment of children with UC were 0.938 and 0.867, respectively, the AUC of the combined prediction of SLC7A5 and BNIP3 was 0.949 (P<0.05). The results of correlation analysis showed that the levels of SLC7A5 and BNIP3 were positively correlated with the proportions of memory B cells, macrophage M0, and neutrophils (r=0.14-0.47, P<0.05), and negatively correlated with the proportions of naive B cells, resting CD4⁺ memory T cells, regulatory T cells, and macrophage M2 (r=-0.13 to -0.35, P<0.05), and were significantly positively correlated with the expression levels of inflammatory factors CXCL1, CXCL8, TNF, IL1B, TLR2, NLRP3, and IL23A (r=0.12-0.53, P<0.05), and negatively correlated with the levels of genes related to intestinal epithelial barrier function OCLN, TJP1, TJP2, DSG2, CDH1, and MARVELD2 (r=-0.13 to -0.42, P<0.05). Conclusions The expression levels of ferroptosis-related genes SLC7A5 and BNIP3 were increased in the rectal tissues obtained at diagnosis of children with UC requiring colectomy treatment, and they were both risk factors and predictors for colectomy treatment of children with UC.

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 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.

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.

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.

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 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.

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.

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 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 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.