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.

Spinal muscular atrophy (SMA), a devastating hereditary neuromuscular disease, is often complicated by scoliosis. While scoliosis correction surgery is frequently indicated to correct spinal deformities, it is not without significant risks, including the potential for infection, hemorrhage, and neurological damage. Consequently, the management of perioperative medications is of paramount importance for the prevention and control of these complications, as well as for facilitating patient recovery. However, the distinctive physiological and pathological characteristics of SMA, coupled with the lack of standardized protocols, present considerable challenges in perioperative medication management. This review article offers an in-depth examination of the perioperative medication therapy management for patients with SMA undergoing scoliosis surgery. It aims to establish an evidence-based framework and provide a reference for the judicious use of drugs in clinical settings.

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.

An 43-month-old female baby, born in February 2021, got MLPA examination after birth because of the family history of SMA, and the results showed SMN1 gene exon 7, 8 homozygous deletions and two copies of SMN2 gene. The baby was admitted to the Department of Neurology of Shenzhen Children's Hospital for the first time in March 2021.Physical examination showed she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Nusinersen intrathecal injection was given to the baby after all preparations were completed. She was subsequently multiple readmitted for the treatment and motor function assessment according to the medication plan. Up to now, the child has received a total of 14 treatments without interruption. And she was additionally treated with Risdiplam by her parents in January 2024. From the beginning until now, her breathing and eating functions have been normal, without scoliosis. Her motor development milestone is slightly delayed compared to normal children: head up stability and head up 90 degrees in prone position at 4-month, flip from supine position to prone position at 6-month, sit with hand support at 8-monthand sit alone at 9-month, walk by holding her one hand at 13-month, walk alone at 16-month, walk steadily at 19-month, play alone on a slide at 30-month, jump with both feet at 36-month, and her motor function score is lower than that of normal children. Currently, her various life skills and motor function performances are roughly similar to those of normal children of the same age.

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.

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 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 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 The aim of this study was to explore the clinical manifestations, genetic copy number variations, therapeutic responses, and prognostic factors associated with 17p13.3 microdeletion syndrome in pediatric patients. Methods A retrospective analysis was conducted on the clinical profiles, whole exome sequencing data, and therapeutic outcomes of five pediatric cases diagnosed with 17p13.3 microdeletion syndrome. Results All 5 patients presented with short stature, and those in cases 3 to 5 also exhibited cardiovascular abnormalities. Whole exome sequencing identified a 433kb to 1536kb deletion within the 17p13.3 chromosomal region, predominantly affecting the YWHAE and CRK genes without implicating the PAFAH1B1 gene. Following the exclusion of contraindications, cases 1 to 4 were administered recombinant human growth hormone (rhGH). While the initial response to rhGH treatment was promising with improvements in height, the long-term efficacy was suboptimal. Cases 4 and 5 underwent surgical correction for congenital heart disease as indicated. Conclusion Deletion of 17p13.3 can result in 17p13.3 microdeletion syndrome. Whole exome sequencing is instrumental in the prompt diagnosis of children exhibiting signs of congenital heart disease and/or short stature. Timely and appropriate interventions for cardiovascular and height-related issues are essential for improving the overall prognosis of affected children.

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 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.

MUT-type methylmalonic acidemia (MMA) is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene, which can involve multiple organ damage, mainly brain damage, and has a high mortality rate. Diet therapy, levocarnitine and vitamin B₁₂ therapy are the main treatment method for MUT-type MMA, and some severe patients need liver and kidney transplantation, but the treatment effect and prognosis are poor. Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway. Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method. This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.

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.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

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 This study aims to summarize the clinical features and TSC1/TSC2 gene variation analysis of 45 cases of tuberous sclerosis complex (TSC) diagnosed through genetic analysis, thereby enhancing the understanding of the disease. Methods Retrospectively collected and summarized clinical data of 45 children diagnosed with TSC associated with TSC1/TSC2 gene mutations and epilepsy from January 2018 to October 2021. Results Of the 45 children, 44 exhibited epilepsy, with 25 presenting with infantile spasms, 23 with generalized tonic-clonic seizures, 8 with myoclonic seizures, 6 with atonic seizures, 5 with dystonic seizures, and 20 with focal seizures. All patients showed skin depigmentation, with 6 presenting hemangiomas in the facial region. Cognitive impairment was observed in 25 cases, while 12 exhibited developmental delays. 6 had cardiac rhabdomyomas, 8 had renal cysts, 1 had polycystic kidneys, and 8 had retinal hamartomas. Genetic analysis revealed 15 patients with heterozygous mutations in the TSC1 gene (8 de novo and 7 inherited), including 4 frameshift mutations, 7 nonsense mutations, 2 missense mutations, and 2 splice mutations. In addition, 30 patients had heterozygous mutations in the TSC2 gene (21 de novo and 9 inherited), comprising 7 frameshift mutations, 4 nonsense mutations, 7 missense mutations, 3 whole-gene mutations, 7 splice sito mutations, 1 largo segmental deletion, and 1 extended mutotion. Notably, 1 TSC1 mutation and 10 TSC2 mutations were novel findings. Conclusion TSC presents with a diverse range of clinical symptoms, and the genotype-phenotype correlation is complex. Early genetic analysis of TSC1/TSC2 is essential for timely diagnosis and targeted treatment in suspected cases.

Testicular microlithiasis (TML) is a relatively rare disease associated with testicular tumors and male infertility. The incidence of TML is on the rise, peaking around the age of 11 years old. While the etiology and pathogenesis remain to be fully elucidated, and its occurrence is related to testicular injury, genetic predisposition, infections, dietary habits, lifestyle choices, and underlying medical conditions. Ultrasoundimaging serves as the primary diagnostic tool for TML, playing a crucial role in its classification and grading. The treatment of TML is mainly management of these complications. Children with TML who have a history of germ cell tumors, undescended testes, post-orchiopexy, testicular atrophy with a volume of less than 12 mL, a family history of germ cell tumors, or related genetic disorders require close observation and should be promptly referred to specialists upon detection of any abnormalities. Furthermore, cases exhibiting focal lesions or significant calcifications on ultrasound warrant immediate referral to specialists.

Objective To summarize the clinical and genetic characteristics of X-linked intellectual disability (XLID) caused by DDX3X gene variation. Methods The clinical data of 3 children with XLID caused by DDX3X gene variation who were treated in the rehabilitation department from January 2018 to April 2021 were retrospectively analyzed. Results Case 1 was a boy aged 8 months and 23 days, case 2 was a girl aged 6 months, and case 3 was a girl aged 1 year and 6 months. All the three patients presented with total growth retardation, special facial features and muscle dystonia at the first visit. The whole exome sequencing showed that case 1 had a splicing mutation of C. 1025+3A>C (p?) in the DDX3X gene. The site was heterozygous in the mother and wild-type in the father. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was of unknown clinical significance. After RT-PCR and Sanger verification, it was found that this mutation could cause partial retention of intron 10 and partial skipping of exon 10, suggesting that the mutation might be a candidate site for abnormal gene function, and this site has not been reported. Patient 2 had a deletion mutation of c.1535-1536delAT (p.H512Rfs*5), which was wild-type in both of her parents. According to ACMG guidelines, this mutation was a de novo pathogenic mutation. In child 3, a splicing mutation of c.679+2T>G was found in the intron 7 region of DDX3X gene. Both of her parents had wild type at this site, and this mutation was a de novo pathogenic mutation. Conclusions In this study, three new DDX3X gene mutation sites were reported for the first time in China and one of them was verified as a candidate site for splicing mutation. Above findings have enriched the mutation spectrum of DDX3X gene and provided a basis for clinical diagnosis and genetic counseling.

Objective To investigate the efficacy of combining Belimumab with traditional therapy in treating active lupus nephritis (LN) in children during the early induction period, and to provide a novel diagnostic and therapeutic framework for the future treatment of LN in children. Method Clinical data were collected from 58 children with active LN newly diagnosed from January 2018 to August 2021. Participants were divided into observation group (32 cases) and control group (26 cases) based on the use of Belimumab in the induction stage. Serum biochemical markers(ALB, BUN, Cr, eGRF), immune markers (IgG, C3, C4, CD19⁺B count, anti-nuclear antibody), along with urinary microalbumin, urinary protein quantity at at 24h and SLEDAI-2K score were were assessed at baseline and after 4, 12, and 24 weeks of treatment. The compliance rate, recurrence rate and glucocorticoid dosage of the two groups were also followed up. Results No significant differences were found in renal pathological type and traditional treatment between the two groups (P>0.05), there were no significant differences in blood ALB, BUN, CR, C3 and C4 between the two groups(P>0.05). However, statistically significant differences were observed among all groups (P<0.05).The eGFR was higher in the observation group at 4 and 12 weeks, but no statistically significant difference was noted between the two groups (P>0.05). After 12 and 24 weeks of treatment,urinary microalbumin and urinary protein quantity at 24h were significantly reduced compared to the control group, with statistical significance (P<0.05); intergroup comparisons also showed significant differences (P<0.05). In the observation group at 24 weeks, the CD19⁺B cell count decreased from 653 (438-933.25) cells/μL to 45 (30.50-66.50) cells/μL, IgG decreased from 14.84 (12.03-17.64) g/L to 5.45 (5.11-5.79) g/L. The positive rate of anti-nuclear antibodies decreased from 100% to 46.87%, SLEDAI-2K score reached disease-free activity status. The complete remission rate (87.50%) and total efficiency (93.75%) in the observation group were significantly higher than those in the control group (65.38% and 84.62%, respectively), with statistical significance (P<0.05). The glucocorticoid dosage was reduced to 5 mg/d in 87.50% of children in the observation group after 24 weeks, compared to 76.92% in the control group, with statistically significant differences (P<0.05). After 2 years follow-up, the compliance rate in the observation group (93.75%) was significantly higher than that in the control group (61.54%), while the recurrence rate (6.25%) was lower than that of the control group (30.77%), with statistical significance (P<0.05). Conclusion The combination of Belimumab and traditional therapy is effective in treating active LN in children during the induction period. This approach alleviates proteinuria, improves disease activity in systemic lupus erythematosus (SLE), facilitates early glucocorticoid reduction, and enhances overall outcomes, demonstrating superior efficacy compared to traditional therapy alone.

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 This study aimed to identify the risk factors associated with the recurrence of seizures during the acute phase of febrile seizures (FS) in children. Methods A retrospective analysis of FS patients treated in the emergency department from January to December 2021 were conducted. Those with recurrent seizures during the acute phase were categorized as the recurrent febrile seizures group (RFS), while those with non-recurrent FS, matched for age and gender at a ratio of 1:2, were designated as the non-recurrent febrile seizures group (NRFS). Demographic data, clinical characteristics of seizures, and laboratory findings were compared between the RFS and NRFS groups. Significant variables from univariate analysis were subsequently included in a multivariate logistic regression analysis to explore the determinants of seizure recurrence in the acute phase of FS. Results Among the 204 enrolled patients, 68 were in the RFS group and 136 in the NRFS group. The RFS group exhibited shorter intervals from fever onset to seizure, a younger age at the initial FS episode, lower body temperature at the time of seizure, and higher neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), and C-reactive protein (CRP) levels, all of which were statistically significant (P<0.05). Multivariate logistic regression analysis revealed that a positive family history of FS (OR=8.157, 95% CI: 2.773-23.989), younger age at the first FS episode (OR=0.960, 95% CI: 0.928-0.994), higher MLR (OR=6.608, 95% CI: 1.505-29.020), and elevated CRP (OR=1.108, 95% CI: 1.041-1.180) were significant predictors of seizure recurrence during the acute phase of FS. The predictive model's performance was evaluated using the area under the receiver operating characteristic (ROC) curve, which was 0.871 (95% CI: 0.818-0.923), with a critical value of 0.30, yielding a sensitivity of 85.3% and a specificity of 76.5%. Conclusion A positive family history of FS, a younger age at the first FS episode, and elevated MLR and CRP levels are risk factors for the recurrence of seizures during the acute phase of FS in children. The use of logistic regression to develop a combined predictive factor offers a higher diagnostic value for identifying seizure recurrence in this phase.

Objective To investigate the distribution characteristics of spirometry in preschool asthmatic children and further analyze its characteristics. Methods The clinical information and lung function results of preschool asthmatic children who were initial diagnosed from January 2019 to December 2020 were retrospectively collected. Latent profile analysis (LPA) was applied to analyze the category features of spirometry parameters distribution. The ordinal logistic regression analysis was used to analyze the relationship between the difference factors and category features of spirometry. Results A total of 851 preschool asthmatic children were included in this study, with a median age of 4.3 years. Latent profile analysis of spirometry parameters (FEV₁, FEV₁/FVC, FEF₅₀, FEF₇₅ and FEF_25~75, %pred) fitted four categories of spirometry parameters distribution curves: above-normal lung ventilation function group (118 cases, 13.9 %), normal lung ventilation function group (269 cases, 31.6 %), small airway function decreased group (297 cases, 34.9 %) and small airway dysfunction group (167 cases, 19.6 %). Spirometry parameters values showed a downward trend among the four category groups, with statistically significant differences in small airway function parameters among groups (P<0.001). Compared with the above-normal lung ventilation function group and the normal lung ventilation function group, patients in the small airway dysfunction group were older (P<0.001), had a higher proportion of eosinophilia (P=0.040) and severe airway hyperresponsiveness (AHR, P<0.001). The ordinal logistic regression analysis showed blood eosinophilia (P=0.036), moderate airway hyperresponsiveness (P=0.008), and severe airway hyperresponsiveness (P<0.001) were positively correlated with small airway dysfunction in preschool asthmatic children. Conclusions The distribution characteristics of spirometry parameters in preschool asthmatic children can be categorized into four types: above-normal lung ventilation function, normal lung ventilation function, small airway function decreased and small airway dysfunction. Blood eosinophilia and airway hyperresponsiveness are associated with small airway dysfunction in preschool children with asthma.

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and eventual fatality. In recent years, more and more gene therapies have emerged, and comprehensive care throughout the disease course remains crucial for maximizing patient’s survival and quality of life. This consensus, developed through literature review, expert consultations, and clinical experience, provides guidance for managing following aspects of care in non-ambulatory DMD patients, including respiratory, cardiac, rehabilitation, skeletal, nutritional, digestive, dermatological, cognitive, and psychological care. This aims to provide a scientific and practical support for families caring for non-ambulatory DMD patients.

The use of fiberoptic bronchoscopy (FB) in pediatrics has been established over several decades, as an invasive airway procedure, FB is crucial for diagnosing and treating tracheal and pulmonary diseases in children. However, its application in pediatric patients is constrained by factors such as low patient cooperation, relatively narrow airways, and poor tolerance to hypoxia. Consequently, ensuring a safer and more comfortable FB examination and treatment for pediatric patients is imperative. Sedation and anesthesia during FB can significantly enhance the comfort and safety of the diagnostic and therapeutic procedures for pediatric patients. This review discusses recent advances in sedation techniques for pediatric patients undergoing FB and offers guidance for clinical practice.

Objective The purpose of this study was to investigate the clinical characteristics of acute brucellosis with abnormal transaminase in children. Methods The data of 43 patients diagnosed with brucellosis from January 2015 to December 2021 were analyzed retrospectively. Based on transaminase values, the patients were divided into 2 groups: abnormal transaminase group and normal transaminase group. The clinical manifestations and laboratory indexes of two groups were analyzed. Result Abnormal transaminase was found in 74.41% of study group and mainly consist of mild and moderate abnormalities. The proportion of splenomegaly in abnormal transaminase group was higher than that in normal transaminase group (P<0.05). In the patients who had abnormal transaminase, the hemoglobin and platelet values were lower, and the blood culture positive rate were higher (P<0.05). The proportion of CD3⁺CD4^-CD8^-T cells was significantly higher than that of normal transaminase group (P<0.05) and the percentage of CD3⁺CD4^-CD8^-T cells was positively correlated with ALT and AST values (r=0.601, 0.466). The recovery time of transaminase was 1-3 weeks for mild abnormal transaminase, and 3-6 weeks for moderate and severe abnormal transaminase. Conclusion The proportion of children with acute brucellosis complicated with abnormal transaminase is higher, with mild and moderate abnormalities being predominant. Acute brucellosis complicated with abnormal transaminase in children has a favorable prognosis. Percentage of CD3⁺CD4^-CD8^-T cells may be related to abnormal transaminase in children with acute brucellosis.

Objective To explore the clinical features and genetic mutation characteristics of a case of global developmental delay caused by a novel variant in the CHD1 gene, and to investigate its relationship with Pilarowski- Bjornsson syndrome (PILBOS, OMIM# 617682). Method Trio whole-exome sequencing (trio-WES) was performed to identify the pathogenic gene within the pedigree, and the clinical data of the patient were summarized to analyze both clinical and genetic characteristics. Result The patient was an 8-month-old male and presented to the Department of Pediatric Neurology at our hospital with the main complaint of " developmental delay for more than six months". Trio-WES detection revealed a missense mutation in exon 1 of the CHD1 gene on chromosome 5q15-q21, with a c.13A>G (p.Ser5Gly) mutation (transcript number NM_001270), which represented a novel (de novo) variation consistent with an autosomal dominant inheritance pattern. The final diagnosis was" Comprehensive developmental delay caused by CHD1 gene deficiency". Conclusion There are currently few reports on cases of CHD1 gene mutations, and the identified mutations in this case has not been previously documented. Expanding the genotype phenotype spectrum of CHD1 gene defects also provides data for further understanding of PILBOS disease. Accurate diagnosis relies on molecular genetic testing, and additional cases need to be accumulated for further analysis of genotype phenotype relationships and prognosis evaluation.

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.

The etiology of vertigo in children is complex and involves multiple clinical departments. Children's vertigo also has certain special characteristics. Therefore, its diagnosis and treatment are difficult. This article analyzes the clinical diagnostic and treatment points of childhood vertigo from various specialties and proposes a multidisciplinary treatment model to promote precise diagnosis and standardized comprehensive treatment of childhood vertigo diseases, ultimately improving the identification rate of diseases, symptom remission rate, and long-term prognosis.

Objective This study aims to investigate the clinical characteristics and risk factors of invasive fungal disease (IFD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with transfusion-dependent thalassemia (TDT). Methods The clinical data of 424 children with TDT who received allo-HSCT from January 2021 to December 2022 were retrospectively analyzed, and the influencing factors of IFD after allo-HSCT were analyzed. Results A total of 424 TDT children undergoing allo-HSCT were included, 261 (61.6%) boys and 163(38.4%) girls, with a median age of 8.0 (5.0-11.0) years. Among them, there were 278 cases of haploidentical transplantation, 116 cases of matched or well matched related transplantation, and 30 cases of matched or well matched unrelated transplantation. All transplant patients received primary antifungal prophylaxis. A total of 30 patients (7.1%, 20 boys and 10 girls) had IFD, 25 patients (83.3%) were probable IFD and 5 (16.7%) were proven IFD. The median occurrence time of IFD was 39.0 (23.5-85.8) days after transplantation. The lung was the most common site of infection (24 cases, 80.0%). Cough (15 cases, 50.0%) and fever (10 cases, 33.3%) were the main symptoms. The pulmonary imaging findings were atypical (14 cases, 46.7%). The main fungal pathogen was Aspergillus (19 cases, 63.3%). Co-infection was detected in 17 cases (56.7%), and co-virus infection was most common. The median follow-up time was 16.0 (9.0-21.8) months, and the overall survival (OS) rate was (99.3±0.01) %. The OS rates of non-IFD group and IFD group were (99.7±0.003) % and (93.3±0.06)%, respectively, and the difference between the two groups was statistically significant (P<0.001). The results of binary logistic regression analysis indicated that poor graft function or graft failure, acute graft-versus-host disease (aGVHD) and antifungal prophylaxis of non-posaconazole were independent risk factors for development of IFD after allo-HSCT (P<0.05). Conclusions TDT children undergoing allo-HSCT and receiving primary fungal prophylaxis exhibited a low incidence of IFD, and IFD was associated with higher risk of death. Patients with a history of poor graft function/ graft failure, aGVHD or those receiving non-posaconazole prophylaxis faced a greater risk of developing IFD.

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 explore the independent risk factors of severe refractory Mycoplasma pneumoniae pneumonia (SRMPP) complicated with bronchitis obliterans in children. Methods The clinical data of children with SRMPP admitted to the Department of Pediatrics from October 2021 to October 2023 were retrospectively analyzed. All patients were divided into two groups: one group had the sequelae of bronchitis obliterans (occluded group) and the other group had not bronchitis obliterans (non-occluded group), and the differences in clinical characteristics between the two groups were compared. Multivariate logistic regression was used to analyze the independent risk factors of SRMPP complicated with bronchiolitis obliterans, and receiver operating characteristic (ROC) curve was used to analyze the predictive value of each factor for SRMPP complicated with bronchiolitis obliterans. Results A total of 110 SRMPP children (60 boys and 50 girls) with a median age of 6.0 (4.0-8.0) years were included, 40 of whom were complicated with obliterated bronchitis. Multivariate logistic regression analysis showed that increased D-dimer level and plastic mucus plugs were independent risk factors for SRMPP complicated with bronchiolitis obliterans (P<0.05), while high levels of prealbumin were independent protective factor (P<0.05). ROC curve analysis showed that the areas under the ROC curve (AUC) of D-dimer increase, prealbumin decrease and plastic mucus plugs in predicting SRMPP complicated with bronchitis obliterans were 0.69, 0.74 and 0.70, respectively. Conclusions For SRMPP children with serum prealbumin level≤13.2 mg/dL,plasma D-dimer level≥1.85 mg/L, and plastic mucus plug formation, it is necessary to be alert to the occurrence of bronchitis obliterans.

Research conducted internationally has identified specific linguistic characteristics in the narrative abilities of children with high-functioning autism, primarily evident in phonetics, semantics, grammar, and pragmatics. These characteristics contribute to their expressive deficits and pose challenges in social interactions. This paper reviews recent studies on the narrative language features of children with high-functioning autism, both domestically and abroad, providing a theoretical foundation to enhance scientific interventions and support for autistic children whose first language is Chinese.

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.

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.

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.

Digenic Alport syndrome (AS) refers to two pathogenic variants in different genes of COL4A3, COL4A4 and COL4A5. This condition is categorized into two subtypes: one subtype results from a pathogenic variant in COL4A5 combined with another in either COL4A3 or COL4A4, while the other subtype arises from pathogenic variants in both COL4A3 and COL4A4. Although digenic AS is hypothesized to exhibit more pronounced clinical manifestations, particularly with respect to proteinuria and renal impairment, definitive evidence necessitates additional multicenter, large-sample studies for validation.

Objective To analyze the clinical characteristics of pediatric hemangioma patients with Kasabach-Merritt phenomenon (KMP), and sum up its treatment experience. Methods The clinical data of children with KMP diagnosed from April 1, 2006 to December 31, 2021 were retrospectively analyzed. Results A total of 36 children with hemangioma were accompanied by KMP, accounting for 0.6% of the children with hemangioma. Five patients (13.9%) showed typical clinical manifestations of KMP in the early stage of the disease; 26 patients (72.2%) had superficial tumors with small lesions; 4 patients (11.1%) had deep-seated tumors with relatively larger lesions; 1 patient (2.8%) presented with hematochezia as the initial symptom, and the tumor was not detected. Median follow-up time was 86 months. All patients manifested thrombocytopenia at the time of diagnosis and the median platelet counts were 24.5(11.8-43.5)×10⁹/L, which increased to 168.0(101.8-314.5)×10⁹/L after treatment. Twenty-four patients (66.7%) received combined therapy, all of them got complete remission (CR). Twelve patients (33.3%) received monotherapy, of them, five patients got CR, three got partial remission (PR), four showed no response. The overall CR rate was 80.6%, PR rate was 8.3%, and NR rate was 11.1%. The 7-year overall survival rate was 88.9% and the fatality rate was 11.1%. Conclusions The masking of symptom was the characteristics of KMP. Appropriate laboratory testing should be performed as soon as possible for patients with dysfunction of blood coagulation or rapidly progressive hemangiomas.

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 investigate the value of cardiopulmonary ultrasound in predicting the withdrawal of mechanical ventilation in neonates with meconium aspiration syndrome (MAS) and persistent pulmonary hypertension of the newborn (PPHN). Methods The clinical data of patients diagnosed with MAS and PPHN who were treated with mechanical ventilation in neonatal intensive care unit from December 2022 to December 2023 were retrospectively analyzed. Results A total of 60 patients (36 boys and 24 girls) were included, and the average gestational age was (37.7±2.0) weeks. There were 12, 22 and 26 cases of mild, moderate and severe pulmonary hypertension, respectively. According to the weaning outcomes, 42 patients were included in the successful group and 18 were included in the failed group. When the ventilator was removed, compared with the failed group, the successful group had lower pulmonary ultrasound scores, lower pulmonary artery systolic pressure and higher left ventricular ejection fraction, with statistical significance (P<0.05). In both the successful and failed group, there were statistically significant differences in lung ultrasound scores, PaCO₂, PaO₂, OI, pulmonary artery systolic pressure, peak displacement of tricuspid annular contraction, peak velocity of tricuspid annular contraction, and left ventricular ejection fraction between before mechanical ventilation and the day of withdrawal (P<0.05). Multivariate logistic regression analysis showed that elevated pulmonary ultrasound score and pulmonary artery systolic pressure were independent risk factors, while elevated left ventricular ejection fraction was independent protective factor for withdrawal failure of patients with MAS and PPHN (P<0.05). The lung ultrasound score, pulmonary artery systolic pressure, left ventricular ejection fraction, and the combination of the three indicators had AUC values of 0.85, 0.76, 0.75, and 0.93 for the purpose of predicting withdrawal failure of mechanical ventilation in neonates with MAS and PPHN, respectively. Conclusions Cardiopulmonary ultrasound has a certain value in predicting the withdrawal of mechanical ventilation in neonates with MAS and PPHN. In clinical practice, pulmonary ultrasound score, pulmonary artery systolic pressure and left ventricular ejection fraction can be combined with clinical manifestations for comprehensive evaluation.

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 explore the etiology of vertigo and dizziness in children and the characteristics of diagnosis and treatment of chronic vertigo and dizziness. Methods The clinical diagnosis and treatment data of children with vertigo and dizziness in the Vertigo Center from January 2006 to June 2024 were retrospectively analyzed. The etiology, treatment, and prognosis of chronic vertigo and dizziness in children were analyzed. Results A total of 208 children with vertigo and dizziness (115 girls and 93 boys) were included, and the median age of onset was 9.8 years (14 months to 18 years). Among them, 34 patients (16.3%) had chronic vertigo and dizziness, and the median age of onset was 12.0 (7.0-17.0) years. Among the 34 children with chronic vertigo and dizziness, 20 children (58.9%) had psychophysiological dizziness, 7 were left-behind children, 5 were from single-parent families in urban areas, 3 were from families reorganized after parental divorce, and 5 were from normal families with initial vestibular peripheral diseases. There were 5 cases of orthostatic hypotension, 3 cases of idiopathic intracranial hypertension, 2 cases of encephalitis convalescence, 2 cases of traumatic emergency disorder, and 2 cases of other causes. The prognosis of 34 patients with chronic vertigo and dizziness was good after targeted treatment according to the etiology. Conclusions The etiology and prognosis of chronic vertigo and dizziness in children are quite different from those in adults. The etiology is mainly psychogenic vertigo and the prognosis is good. A multidisciplinary approach is crucial for the diagnosis and treatment of vertigo and dizziness in children.

Objective This study aimed to investigate the correlation between the Subjective Global Nutritional Assessment Tool (SGNA) and anthropometric measurements, as well as to evaluate its clinical efficacy in assessing the nutritional status of hospitalized children with neurological impairments. Methods A retrospective analysis of 1466 pediatric patients with neurological impairments admitted to the Department of Children’s Rehabilitation were conducted from January 2019 to October 2019. Nutritional status was evaluated using the SGNA, and its effectiveness was corroborated against the World Health Organization's recommended anthropometric Z-score method. Results The prevalence of moderate and severe malnutrition, as well as overall malnutrition, as determined by SGNA, were 15.14%, 3.27%, and 18.41%, respectively. In comparison, the rates identified using weight-for-height Z-score (WHZ), weight-for-age Z-score (WAZ), height-for-age Z-score (HAZ), and composite Z-score were 9.69%, 12.48%, 10.10%, and 21.56%, respectively. When using WAZ as the benchmark, the sensitivity, specificity, and Youden’s index for SGNA were 86.62%, 88.90%, and 0.76, respectively. With the composite Z-score as the reference, these values were 57.28%, 92.27%, and 0.50, respectively. A moderate level of agreement was observed between SGNA and both WHZ and the comprehensive Z-score (Kappa values of 0.53 and 0.523, both P<0.001). The SGNA assessment demonstrated significant correlations with both the WAZ and WHZ, with correlation coefficients of -0.52 and -0.45, respectively. Conclusion The SGNA emerges as a comprehensive nutritional assessment instrument that surpasses anthropometry in scope and can be reliably utilized for nutritional assessment in children with neurological impairments.

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.

Objective To investigate influencing factors of dietary changes in children undergoing allogeneic hematopoietic stem cell transplantation (alloHSCT) and to analyze the correlation between reduced dietary intakes and clinical outcomes during hospitalization. Methods We collected data of 144 children undergoing alloHSCT from hospital between April 2018 and August 2023. Dietary intakes and nutritional status were assessed prior to transplantation and on day 0, +14 and +30 after alloHSCT. The relationship between post-transplant clinical outcomes and dietary intakes was analyzed using Spearman correlation analysis. Results The baseline energy intake was 1315.20 (922.15-1600.88) kcal/d, representing 90.85% (80.10%-103.00%) of the dietary reference intakes (DRIs). On day 0, +14 of transplantation, the calorie intake decreased to 344.95 (66.85-532.50) kcal/d and 377.90 (108.43-689.40) kcal/d, the percentage of dietary caloric intake in DRIs decreased to 25.50% (4.20%-46.25%) and 23.50% (7.21%-50.08%), respectively. The intake of macronutrient also significantly decreased. By day +30 post-transplantation, dietary intake and macronutrient increased, with dietary intake increased to 721.45 (285.75-1252.25) kcal/d, accounting for 58.00% (21.50%-81.92%) of DRIs (P<0.001 ). The generalized estimation equation analysis showed that age (P<0.001), oral mucositis (P=0.023), Ⅱ-Ⅳ acute graft versus host disease (aGVHD, P<0.001), length of cumulative febrile episodes (P=0.005), and a high risk of STAMP before transplantation (P=0.026) were significant influencing factors for changes in dietary intake. The negative correlation between dietary intake of children undergoing alloHSCT and decrease in BMI-Z, length of hospital stay, and inpatient treatment costs was observed, with r values of (-0.516, -0.238, -0.465) and P values of (<0.001, 0.011, <0.001) respectively. Conclusion After alloHSCT, dietary intake and macronutrient of children with varying nutritional status, disease diagnosis, and transplant types significantly decreased. This reduction in dietary intake was associated with adverse clinical outcomes. Attention should be given to the changes in dietary intake and macronutrient in all children post-transplantation, especially for those of older age, high risk of STAMP, or with oral mucositis, Ⅱ-Ⅳ grade aGVHD, and severe infection. Timely and effective nutritional interventions are essential.

Objective To analyze the correlation between anti N-methyl-D-aspartate receptor (NMDAR) encephalitis prodromal events and clinical features in children. Methods A retrospective analysis was conducted on 107 pediatric patients with anti-NMDAR encephalitis from January 2014 to March 2019, to examine the correlation between prodromal events and clinical characteristics in these children. Results Of the 107 patients, 52 cases (48.6%) had prodromal events, predominantly consisting of infectious prodromal events (73.1%, 38 out of 52). A comparative analysis revealed that patients with a history of intracranial infection as a prodromal event were significantly younger at onset (6.0±4.7 years) compared to those without such a history (6.4±2.9 years, P=0.006). Additionally, these patients had a markedly higher incidence of limb paralysis (P=0.038) and sleep disorders (P=0.037). The hospital stay was prolonged for patients with intracranial infection prodromal events (P=0.001). Furthermore, these patients exhibited higher modified Rankin Scale (mRS) scores prior to treatment (P=0.008) and required more courses of intravenous immunoglobulin (IVIG) treatment (P=0.011). Conclusions Pediatric patients with anti-NMDAR encephalitis and prodromal events, particularly those with intracranial infections, displayed distinct clinical profiles. They were more likely to present at an earlier age with increased rates of limb paralysis and sleep disorders, necessitating longer hospital stays and additional IVIG treatments.

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 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.