The diagnosis and treatment of pediatric vertigo present a multidisciplinary clinical challenge due to children's difficulty in accurately describing their symptoms and their limited cooperation during vestibular function tests, which often hinders systematic evaluation and standardized treatment in clinical settings. This article, authored from the perspective of otolaryngologists, offers an analysis of approaches and considerations for diagnosing and treating pediatric vertigo, aiming to enhance clinicians' understanding of these disorders.

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.

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.

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

Objective To 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 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.

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

Objective To 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.

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.

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.

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

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.

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.

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 improve the understanding of methotrexate-induced acute encephalopathy and explore the efficacy and safety of dextromethorphan in the treatment of methotrexate-induced central neurotoxicity. Methods A retrospective analysis was performed on a patient in our hospital with acute encephalopathy caused by high-dose intravenous methotrexate combined with intrathecal methotrexate. Additionally, the published literature was reviewed to evaluate the potential efficacy and safety of dextromethorphan. Results The child was diagnosed with stage IV Burkitt lymphoma and was treated with chemotherapy in the China Net Childhood Lymphoma-mature B-cell lymphoma 2017 (CNCL-B-NHL-2017) C group. On the day following the initial administration of methotrexate, the patient exhibited clinical symptoms, including headache and visual impairment, and multiple patchy T2WI hypersignal images in the bilateral occipital cortex and bilateral cerebellar hemispheres were observed on head MRI. After oral administration of dextromethorphan, there was a gradual recovery of binocular vision and a reduction in the clinical symptoms. Conclusion In the case of acute encephalopathy induced by methotrexate, early treatment with dextromethorphan may have a therapeutic effect on severe neurotoxicity induced by methotrexate.

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

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

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

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.

Refeeding syndrome is a metabolic disorder characterized by electrolyte disorder, mainly low phosphorus, low potassium and low magnesium, and its clinical manifestations are non-specific and diverse. It is common in malnourished and severe adult patients and is also found in high-risk newborns who receive early parenteral nutrition treatment. This article reviews the physiological mechanism, risk factors, clinical characteristics, prevention and treatment of parenteral nutrition-related neonatal refeeding syndrome.

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

Objective Both preterm and postterm pregnancies can adversely affect neonatal outcomes; however, research on the differences in neonatal outcomes across various gestational ages within the full-term range (37⁺⁰ to 41⁺⁶ weeks) remains limited. Therefore, this study aims to explore the potential association between the gestational week of delivery within full-term pregnancy and adverse perinatal outcomes using a retrospective pregnancy cohort from a single center. Methods A retrospective cohort of pregnant women who delivered at hospital between January 2023 and December 2024, and their neonates, was included. Maternal and neonatal characteristics, as well as adverse outcomes [including large for gestational age (LGA), small for gestational age (SGA), low birth weight (LBW), macrosomia, 5-minute Apgar score≤7, and stillbirth], were compared across different gestational weeks. Restricted cubic spline (RCS) models and multivariable logistic regression were employed to analyze the association between gestational week at delivery and adverse perinatal outcomes. Results A total of 13,123 singleton full-term natural delivery cases were included from 43,502 parturients. They were included and categorized into five groups according to gestational week at delivery: the 37⁺⁰-37⁺⁶ weeks group (n=952), the 38⁺⁰-38⁺⁶ weeks group (n=2,707), the 39⁺⁰-39⁺⁶ weeks group (n=4,920), the 40⁺⁰-40⁺⁶ weeks group (n=4,164), and the 41⁺⁰-41⁺⁶ weeks group (n=380). The proportion of advanced maternal age (≥35 years) decreased with increasing gestational age, declining from 18.2% in the 37⁺⁰-37⁺⁶ weeks group to 10.0% in the 41⁺⁰-41⁺⁶ weeks group. The distribution of pre-pregnancy BMI categories differed significantly among the gestational age groups (P<0.001), with the 37⁺⁰-37⁺⁶ weeks group having higher proportions of overweight and obesity (10.7% and 1.7%, respectively). Gestational weight gain also varied significantly across groups (P<0.001), with the 41⁺⁰-41⁺⁶ weeks group exhibiting greater weight gain during pregnancy. The incidence of gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy/preeclampsia differed significantly among gestational age groups (P<0.001), both being most prevalent in the 37⁺⁰-37⁺⁶ weeks group (27.2% and 4.3%, respectively). There were 15 stillbirths (0.1%), 13,108 surviving newborns, among whom 423 newborns (3.2%) were LGA, 799 (6.1%) were SGA, 166 (1.3%) were macrosomia, 180 (1.4%) were LBW, and 9 (0.1%) had a low Apgar score at 5 minutes. Restricted cubic spline analysis initially suggested that 39⁺⁰-40⁺⁶ weeks of gestation might represent a window of lower risk for adverse neonatal outcomes. Multivariate logistic regression further confirmed that, compared with delivery at 39⁺⁰-39⁺⁶ weeks, delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of SGA (P<0.01); delivery at 40⁺⁰-40⁺⁶ weeks and 41⁺⁰-41⁺⁶ weeks was associated with a significantly increased risk of macrosomia (P<0.001); delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of LBW (P<0.001); the 41⁺⁰-41⁺⁶ weeks group had an increased risk of a 5-minute Apgar score≤7 (P=0.029); and delivery at 37⁺⁰-37⁺⁶ weeks and 38⁺⁰-38⁺⁶ weeks was associated with a significantly increased risk of stillbirth (P<0.01). Conclusions The timing of delivery in full-term pregnancies may affect neonatal outcomes. The period from 39⁺⁰ to 40⁺⁶ weeks of gestation is a window during which the risks of various adverse outcomes are at relatively low levels. This study may have potential value for further optimizing clinical pregnancy monitoring and perinatal management.

Due to the age characteristics of children, esophageal damage caused by accidental ingestion of corrosive substances has become a common accidental injury for children. The acute injury and long-term sequelae resulting from esophageal corrosive injury have become the key and difficult points in the treatment of esophageal corrosive injury in children. This paper reviews the occurrence mechanism and the latest treatment schemes of esophageal corrosive injury, emphasizing the significance of correctly choosing emergency treatment measures and treatment plans for long-term sequelae, with the aim of reducing the occurrence of complications. It has practical guiding significance for the diagnosis and treatment of esophageal corrosive injury in children.

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.

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

Objective 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.

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

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

Objective To 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.

Pediatric-onset anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of systemic small-vessel vasculitides characterized by ANCA production. Primary AAV in children is rare and is generally considered to arise from immune dysregulation, environmental factors, and infections, with no strong evidence of familial clustering. This report describes a pair of monozygotic twin sisters who developed AAV concurrently. The elder sister, aged 9 years, presented with "anemia for over 20 days and abnormal urinalysis findings for 3 days" and was diagnosed with ANCA-associated vasculitis and ANCA-associated nephritis. The younger sister, screened via urinalysis following her sister's diagnosis, was found to have hematuria and proteinuria, leading to a confirmatory diagnosis. Notably, the sisters exhibited distinct disease subtypes, severity grades, clinical manifestations, and treatment outcomes. The elder sister's renal pathology revealed ANCA-associated renal injury with concurrent immune complex deposits, correlating with poorer renal outcomes. In contrast, the younger sister achieved complete renal recovery after treatment. Extensive exome sequencing failed to identify pathogenic variants in either case.

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

Objective To explore the feasibility of detecting iduronate 2-sulfatase (IDS) activity in dried blood spot (DBS) for screening of mucopolysaccharidosis type Ⅱ (MPS Ⅱ) in newborns. Methods The IDS activity of DBS was detected by fluorescence quantification method, and MPS Ⅱ screening was performed on 2202 male newborns born from February to April 2021 in the Neonatal Disease Screening Center of the hospital. The 51 confirmed children with MPS Ⅱ, 15 female carriers of MPS Ⅱ and 32 non-MPS Ⅱ children (the control group, all male) collected by the Department of Pediatric Endocrinology and Genetic Metabolism from March 2012 to December 2020 were taken as the pre-screened population. A preliminary screening cut-off value for positive cases has been established, and those who test positive will be recalled for retesting of enzyme activity and urine mucopolysaccharides and IDS gene testing. Results The median age of 51 children with MPS Ⅱ was 4.2 years, the median age of 15 female carriers with MPS Ⅱ was 27.5 years, and the median age of 32 control patients was 4.5 years. ROC curve was drawn, and the optimal threshold of DBS for detection of blood IDS activity was 9.59 ρmol/(punch‧20h) in 98 pre-screened patients, with sensitivity of 100%, specificity of 22.7% and AUC of 0.962 (0.928-0.995). The consistency analysis between the white blood cell method and DBS method showed that Kappa=0.96 (P<0.001). The activity level of IDS in 2202 neonates was detected by DBS method. The median value of IDS activity was 58.22 ρmol/(punch‧20h) and 20% of the median value was 11.64 ρmol/(punch‧20h). Whether the DBS IDS activity ≤9.59 ρmol/(punch‧20h) or≤11.64 ρmol/(punch‧20h) was taken as the positive cut-off value, 6 cases (0.27%) were detected as positive and recalled. Among the initial screening positive cases, although 3 patients had a qualitatively positive urine mucopolysaccharides, the electrophoresis showed only chondroitin sulfate band without dermatan sulfate and heparan sulfate bands. Genetic testing found five cases carrying the mother- derived IDS missense variant of c.851C>T (p.P284L) and one case carrying c.1499C>T (p.T500I), all of which were classified as benign variants. Conclusions The IDS activity test on DBS can effectively and promptly identify suspected patients with MPS Ⅱ and can be used for newborn screening of MPS Ⅱ. However, a large sample size study is still needed to determine the accurate positive cut-off value.

Generally, the higher the magnetic field strength of a magnetic resonance imaging (MRI) scanner, the greater the likelihood of achieving a higher signal-to-noise ratio and improved image resolution within a shorter scanning time. However, high-field-strength MRI systems are associated with significant limitations, including high acquisition costs, stringent installation requirements, and substantial maintenance expenditures, which collectively hinder their widespread adoption. In contrast, low-field-strength MRI scanners, due to their relatively lower costs and enhanced portability, have increasingly been integrated into clinical practice and related research settings. This review aims to summarize the current diagnostic applications of low-field-strength MRI in pediatric neurological disorders, neonatal intensive care, and prenatal fetal imaging, while also discussing their future potential. This article seeks to provide a comprehensive overview of the clinical value and developmental trajectory of low-field-strength MRI in fetal and pediatric diagnosis.

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 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.

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

Objective To investigate the clinical characteristics and genetic variations of two children with isolation glycerol kinase deficiency (GKD), fthereby enhancing clinicians' understanding of this the disease. Methods Clinical and genetic data were collected from two pediatric patients with isolated GKD admitted between March 2018 and December 2023.Their clinical manifestations and genetic variation profiles were analyzed systematically. Results Both patients were male. Patient 1 aged 6 years and 7 months, exhibited paroxysmal nausea, vomiting, abdominal pain, anorexia, and lethargy. Laboratory findings revealed recurrent hypoglycemia, metabolic acidosis, elevated blood ketone bodies and triglycerides, as well as increased urinary ketone bodies and glycerol concentrations. Patient 2 aged 3 months,experienced asphyxia, seizures, coma, and feeding difficulties shortly after birth, leading to hospitalization for brain injury assessment. Elevated blood triglycerides and increased urinary glycerol concentrations were detected.. The whole exon gene detection showed that there was a hemizygous variation c.1145C>T (p.A382V) in Exon 15 of GK gene in patient 1, and a hemizygous variation c.422C>G (p.T141R) in Exon 6 of GK gene in patient 2. Sanger sequencing confirmed that both the c.1145C>T and c.422C>G variants were from phenotypically normal mothers and classified as variants of uncertain significance according to the ACMG guidelines, with no prior reports. Conclusion The acute-phase symptoms of isolated GKD lack specificity. Elevated blood triglycerides and urinary glycerol concentrations can aid in diagnosis, while definitive diagnosis relies on GK gene testing.

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

Objective To 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.

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.

With advances in perinatal medicine and improved care for extremely preterm infants, the incidence of severe respiratory complications—such as neonatal respiratory distress syndrome (NRDS)—has risen in recent years. Although the diagnosis and management of NRDS in China have made substantial progress, rates of severe complications, including severe intracranial hemorrhage and bronchopulmonary dysplasia (BPD), remain markedly higher than those observed in high-income countries in Europe and North America. Current clinical practice faces several critical challenges, including difficulties in the early differentiation of NRDS from neonatal acute respiratory distress syndrome (NARDS), which may delay timely and appropriate interventions. Furthermore, key therapeutic decisions lack robust evidence or consensus, such as the optimal timing of pulmonary surfactant administration, selection of invasive ventilation strategies, and post-extubation respiratory support approaches—some guidelines exist but are often based on limited or low-quality data. Leveraging national strategic initiatives and multicenter collaborative platforms like the China Neonatal Network (CHNN), Chinese researchers have recently published a series of high-impact studies on NRDS in leading journals including The BMJ, directly addressing these unresolved clinical questions and generating high-quality, context-specific evidence to improve outcomes. This article reviews the current landscape of NRDS management, highlights pivotal recent findings, and outlines future research priorities, in order to enhance the cognitive level of chinical physicians.

Objective To analyze the air-conduction click (c-ABR) and tone burst auditory brainstem response (Tb-ABR) thresholds in infants and young children with otitis media with effusion (OME) and explore the clinical significance of air-conduction Tb-ABR thresholds in frequency-specific hearing assessment for OME infants and young children. Methods A retrospective analysis was conducted on the ABR threshold test results of OME infants and young children aged 0~24 months and normal control infants from January 2018 to December 2022. The air-conduction click, Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz ABR thresholds were compared between the two groups. The correlation between c-ABR and Tb-ABR thresholds within the OME group was analyzed. Results The OME group consisted of 43 patients (28 boys and 15 girls), with a median age of 8 (3-14) months. The following testing was completed: air-conduction click for 43 cases (60 ears), Tb-500 Hz for 32 cases (45 ears), Tb-1000 Hz for 27 cases (39 ears), Tb-2000 Hz for 11 cases (17 ears), and Tb-4000 Hz for 11 cases (17 ears). The control group included 21 patients (10 boys and 11 girls), with a median age of 6 (4-8.25) months. The following tests were completed for the control group: air-conduction click, Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz for 21 cases (42 ears). The air-conduction click and Tb-ABR thresholds at Tb-500 Hz, Tb-1000 Hz, Tb-2000 Hz, and Tb-4000 Hz in the OME group were all significantly higher than those in the normal control group (P<0.01). In the OME group, the air-conduction c-ABR threshold was lower than the thresholds for Tb-ABR at all four frequencies (P<0.05). A positive correlation was found between the thresholds at different frequencies (P<0.05), and the correlation coefficient between Tb-2000 Hz and Tb-4000 Hz was 0.925. Conclusions Infants and young children with OME may experience hearing loss across a range of frequencies, from low to high. Compared to air-conduction c-ABR, Tb-ABR thresholds provide more information about frequency-specific hearing. In clinical settings with limited testing time, Tb-2000 Hz or Tb-4000 Hz might be selected for threshold testing, in addition to 500 Hz and 1000 Hz.

Hypercalcemia of Infancy Type 1 (HCINF1) is a rare genetic disorder resulting from pathogenic variants in the CYP24A1 gene. The disease typically manifests during infancy or adulthood, with highly variable clinical presentations. Management is categorized into acute and long-term phases. Acute management encompasses hydration, diuretic therapy, glucocorticoids, calcitonin, bisphosphonates, and, in severe cases, dialysis. Long-term strategies primarily focus on lifestyle modifications—particularly restriction of vitamin D and calcium intake—and pharmacological interventions that bypass impaired metabolic pathways. However, the durability, efficacy, and safety profile of these long-term therapies remain to be fully established and warrant further investigation. Currently, there is a lack of clinical management guidelines or consensus for HCINF1. This review summarizes current advances in therapeutic approaches with the aim of informing and improving clinical decision-making.

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

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 By analyzing the event related potentials (ERPs) of vertigo and normal children, this study aims to explore the effects of vertigo on cognitive function in children, and provide theoretical guidance for clinical intervention. Methods The children aged 6 to 17 years old who presented with symptoms of dizziness, vertigo, and balance disorders at hearing impairment and vertigo diagnosis and treatment center were selected from January to August 2024 as the study subjects (vertigo group), and healthy children of similar age during the same period were selected as the control group. Both groups underwent auditory Oddball paradigm stimulation, and event-related potential (ERPs) components, including P1, N1, P2, N2, and P3, were recorded. The latency and amplitude differences of each component were compared between the two groups. Results There were 33 children (14 boys and 19 girls) in vertigo group, and the average age was (10.2±2.7) years. The control group consisted of 16 children (12 boys and 4 females), with an average age of (9.8±2.5) years. The amplitudes of N1 and N2 in the vertigo group were significantly lower than those in the control group, with statistical significance (P<0.05), while the amplitudes of residual components and latency of all components between the two groups had no statistical significance (P>0.05). The latency and amplitude of all ERPs components in vertigo group and control group had no significant correlation with age (P>0.05). Conclusions Vertigo in children affects their cognitive function, primarily in the early stages of perception and cognitive control, with less impact on higher cognitive processing, indicating that children with vertigo may reduce perception, conflict processing, and cognitive control abilities.