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.

Respiratory syncytial virus (RSV) infection is a global health issue that poses a serious threat to the health of children under the age of 5. This article closely follows the “Chinese expert consensus on the clinical diagnosis and treatment of respiratory syncytial virus infection in children (2023 edition)”, and makes an in-depth interpretation of key issues such as the window period for RSV pathogenic diagnosis, late-onset severe disease of RSV, and supportive treatment of RSV.

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.

B cell aplasia (BCA) is a common adverse side effect in pediatric patients with B-acute lymphoblastic leukemia (B-ALL) following CD19-chimeric antigen receptor T-cell (CD19 CAR-T) therapy. The duration of BCA has an impact on the immune status and prognosis of patients. A thorough understanding of BCA helps physicians choose treatment plans in a scientific, normative, and reasonable manner, reducing the risk of infection in pediatric leukemia patients after CAR-T treatment and improving their prognosis and quality of life.

Objective To analyze prenatal diagnosis, genetic counseling and follow-up of five fetuses with isodicentric Y chromosomes and to provide reference for the clinical treatment. Methods From January 2018 to August 2022, 7 347 pregnant women with prenatal diagnostic indications were selected, and fetal amniotic fluid was detected by conventional G-banding karyotype and chromosomal microarray analysis (CMA) simultaneously, and then verified by fluorescence in situ hybridization (FISH). Subsequently, parental karyotypes were analyzed. After genetic counseling, pregnant outcomes were followed up. Results Five fetuses with de novo idic(Y) were detected and all of these Y chromosomes had the same breakpoint in Yq11.2. Among them, four fetuses (cases 2~5) presented with a mosaic 45, X karyotype except the fetus of case 1. Prenatal ultrasonography indicated that all five fetuses were male and no obvious structural abnormalities were found in the other four fetuses except for case 1 with possible bilateral clubfeet. After personalized genetic counseling combined with the ultrasonography results, cases 1~2 chose to continue the pregnancy while cases 3~5 terminated the pregnancy. The child of case 1 was followed up to four years old. The surgical effect of strephenopodia was good, and the mild developmental retardation was improved after rehabilitation training. The child of case 2 was followed up to 2 years old, and no abnormal phenotype was found yet. Case 3 had been pregnant again and had given birth to a healthy baby girl while cases 4 and 5 were still in preparation for pregnancy. Conclusions The combined application of cellular and molecular genetic techniques is helpful for the prenatal diagnosis of the fetuses with idic(Y). Reasonable genetic counseling and long-term follow-up can provide an important reference for subsequent clinical diagnosis and treatment.

Mechanical ventilation is the main treatment for acute respiratory distress syndrome (ARDS). Proper spontaneous breathing during mechanical ventilation can promote lung recruitment, improve ventilation/perfusion ratio and oxygenation, reduce diaphragm atrophy and improve organ perfusion. However, strong spontaneous breathing may lead to high transpulmonary pressure and increased pulmonary perfusion, thus aggravating lung injury. To establish a better lung protective ventilation strategy in clinical practice, emphasis should be devoted to the regulation of spontaneous breathing and the suitable mechanical ventilation system should be selected. This article reviews the role of regulating spontaneous breathing in the treatment of mechanical ventilation in ARDS patients.

Food for special medical purpose (FSMP) has undergone significant development in China. This paper provides an overview of the evolution of China’s special medical food industry, including its journey from its inception to independent research and development. Furthermore, it discusses the progress made in clinical application, product types, research and development capabilities, as well as regulation and standard management. The challenges and opportunities faced by the special medical food industry in China are also explored. As the domestic and international markets continue to expand and technology advances, FSMP will increasingly play a crucial role in the field of clinical nutrition therapy.

In recent years, allergic diseases continue to pose a major threat and challenge to the health of a wide range of children, thereby calling for urgent intervention to prevent the progression of the disease. The human gut microbiota is established by the age of 3 years. The imbalance in the gut microbiota occurs due to factors, such as cesarean delivery and antibiotic use before the age of 3 years, is strongly associated with a higher risk of future onset of allergic diseases. Recent advancements in next-generation sequencing methods have revealed the presence of dysbiosis in patients with allergic diseases, which increases attention on the relationship between dysbiosis and the development of allergic diseases. A large number of researchers have conducted in-depth research on the correlation between gut microbiota and allergic diseases, and the research results have revealed that the imbalance of gut microbiota is associated with the high risk of children developing allergic diseases in the future, and the changes in gut microbiota may be used as therapeutic targets for allergic diseases. Therefore, the purpose of this paper is mainly to review the latest research progress of gut microbiota in children with allergic diseases, and try to further promote the treatment and prevention of clinical diseases by comparing the gut microbiota of children with allergic diseases and normal children.

Objective To investigate the variation of genes related to neonatal hyperbilirubinemia jaundice and the diseases caused by hyperbilirubinemia jaundice, and its distribution in different degrees of jaundice. Methods A total of 167 neonates diagnosed with hyperbilirubinemia in NICU from July 2022 to July 2023 were selected and divided into severe and non-severe jaundice groups. Gene detection was performed by high-throughput second-generation gene sequencing technology. The jaundice gene variants were rated as pathogenicity, and the positive, carrying and negative rates of jaundice gene variants in children were analyzed, and the distribution of jaundice gene variation and related diseases in the two groups were also analyzed. Results Among 167 children, 18 cases (10.8%) were positive for jaundice gene variation, 55 cases (32.9%) were carriers, and 94 cases (56.3%) were negative. There were 8 genes involved in UGT1A1, ATP7B, HBB, SLC25A13, ATP8B1, SMPD1, G6PD and SLC10A1, among which the mutation frequency of UGT1A1 gene was up to 45.32%, and c.211G>A was the high frequency mutation site. In the group of 31 children with severe jaundice, 16 (51.6%) had positive results for jaundice gene mutations, and all 15 cases of Gilbert syndrome/Crigler-Najjar syndrome had UGT1A1 gene mutations. Among the 136 non-severe jaundice patients, only 2 cases (1.47%) were positive, and 1 case of Gilbert syndrome / Crigler-Najjar syndrome had a variation in UGT1A1 gene. Comparing the rates of positive, carrying and negative of jaundice gene variation between the two groups, the results showed that the positive rate of severe jaundice group was significantly higher than that of non-severe jaundice group, and the negative rate was significantly lower than that of non-severe jaundice group, with statistical significance (P<0.014). Conclusions Jaundice gene variation is closely related to the occurrence and severity of neonatal hyperbilirubinemia. The common cause is UGT1A1 gene variation, and c.211G>A is the high frequency mutation site. It is of great clinical significance to conduct gene detection for children with hyperbilirubinemia, especially severe hyperbilirubinemia.

IgA vasculitis (IgAV) is an autoimmune disease caused by IgA deposition in small blood vessels. It is characterized by non-thrombocytopenic purpura, abdominal pain, joint swelling and pain, hematuria or proteinuria. The disease is self-limited, with only a minority progressing to end-stage renal disease in later life. This paper reviews the clinical features of IgAV in children and the mechanisms of renal involvement, and discusses the treatment and prognosis of the disease.

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.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by immune dysregulation and autoantibody formation. With the progress of treatment, the survival rate of SLE patients has improved significantly. Even so, lupus nephritis (LN) is associated with high morbidity and mortality. At present, there is a lack of data on LN in children, and its diagnosis, treatment and monitoring are mainly based on guidelines for adults. Treatment is mainly based on hormones and immunosuppressants. Recently, biologics have been used to treat LN with good results and no obvious adverse reactions. This article reviews the progress of epidemiology, clinical features, pathogenesis, diagnosis and treatment of LN in children.

Objective The purpose of this study is to explore and evaluate the clinical characteristics of children with different rare diseases by using the database of children's rare diseases in our hospital, so as to provide a basis for promoting the prevention, diagnosis and treatment of children with rare diseases. Methods The data of children in our rare disease database (Phase I) were analysed from 16th May 2011 to 29th January 2023 by child admission. The International Classification of Diseases (ICD-10) was used to classify and count the number of cases mined, gender, geography, age, genetic tests, repeat visits and hospitalisations. Results A total of 3491 children were included in the database, covering 20 rare diseases, representing 9.7% (20/207) of the rare disease catalogue. The ratio of male to female patients was 1.30:1 (1975 males/1516 females). Methylmalonic acidemia (1024 cases, 29.33%), congenital adrenocortical hyperplasia (944 cases, 27.04%) and phenylketonuria (191 cases, 5.47%) were the top three rare diseases. Genetic testing data were included in 220 cases, accounting for 6.30% of the total number of diseases. Hospitalised cases covered 16 provinces, with Henan province accounting for 96.60% of cases (1988/2058). Rare diseases in infancy accounted for 42.36% (1479/3491) of the total number of cases. Multiple osteofibrous dysplasia with precocious puberty syndrome was the highest percentage of repeat hospitalisation for rare diseases at 24.24% (8/33), while children with Kalman syndrome had the highest rate of repeat outpatient visits at 51.85% (14/27). Conclusion Based on the database of special diseases, we analyzed the clinical characteristics of 20 rare diseases in children, which provided a reference for promoting the prevention, control, detection and research of rare diseases in children in our province.

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.

The healthy life trajectories initiative (HeLTI) is a prospective birth cohort intervention study led by the World Health Organization (WHO), which involves multiple countries including China, Canada, South Africa, and India. The project aims to explore and establish community-family-maternal-child (CFMC) intervention measures that cover multiple stages such as pre-pregnancy, pregnancy, infancy and early childhood by the advantages of HeLTI in personalized health education and authoritative professional health guidance. It aims to implement continuous and multi-level interventions to build an international collaborative research platform, and to achieve the goal of preventing developmental diseases such as obesity from the earliest stage of life. The life tree project (Sino Canadian health life trajectories initiative, SCHeLTI) is jointly funded by the National Natural Science Foundation of China (NSFC) and the Canadian Institutes of Health Research (CIHR). It is led by the International Peace Maternal and Child Health Hospital, and has formed a research team with well-known universities and institutions such as Xinhua Hospital, Fudan University Obstetrics and Gynecology Hospital, and Sherbrooke University in Canada. The project is mainly implemented in 42 community health service centers in Xuhui District, Changning District, Minhang District, Fengxian District, and Songjiang District of Shanghai. The multi-level comprehensive interventions in this project will be promoted in Shanghai and even throughout the whole China, and provide scientific basis for WHO to develop intervention guidelines for childhood obesity.

Objective To investigate the clinical phenotype and genetic variant characteristics of children with Shwachman-Diamond syndrome (SDS). Methods From January 2018 to September 2023, seven children with SDS under long-term follow-up in the Department of Pediatric Endocrine and Genetics were selected as the research objects. The clinical data of children were gathered and peripheral blood samples were collected for exome sequencing (ES), and lineage validation of the variants was performed by Sanger sequencing. Results Among the 7 children with SDS, 3 were boys and 4 were girls. The median age at first diagnosis was 3.0 (0.9-4.0) years. Six patients carried SBDS defects and one case carried EFL1 defect. Among the six patients with SBDS deficiency, five of them carried compound heterozygous variants (two cases with the variants of c.258+2T>C/c.183_184delinsCT, one case with c.258+2T>C/c.40A>G, one case with c.258+2T>C/c.184A>T, one case with c.258+2T>C/ heterozygous deletion of exon 3), and the remaining one patient carried SBDS homozygous variation (c.258+2T>C). Patients with SBDS deficiency were initially diagnosed with short stature (6/6, 100%), and combined with chronic diarrhea (3/6, 50%) and recurrent respiratory infections (1/6, 16.7%). Through examination, all the six patients with SBDS deficiency (100%) were found to have neutropenia and elevated liver enzymes. Four cases had skeletal dysplasia and 3 cases had exocrine pancreatic dysfunction. One SDS patient was confirmed to carry compound heterozygous variants of EFL1 (c.2260C>T/c.316G>A). The main clinical manifestations included short stature and abnormal skeletal development, without pancreatic and blood system involvement. Conclusions Children with SBDS deficiency presented clinical phenotypic heterogeneity. The phenotypic spectrum and variation spectrum of SDS in China were enriched, and an SDS patient with EFL1 variant was reported for the first time in the Chinese population. For children with short stature and symptoms such as neutropenia, exocrine pancreatic dysfunction, and skeletal deformities, genetic testing should be completed to avoid missing the diagnosis of SDS.

Protracted bacterial bronchitis (PBB) is a persistent infectious disease of the bronchial intima caused by bacteria. PBB is the leading cause of chronic cough in children at home and abroad. At present, it has been included in the guidelines for chronic cough in many countries and has been improved and updated. The diagnosis of PBB includes clinical diagnostic criteria and microbiology-based diagnostic criteria. Currently, amoxicillin-clavulanate potassium is recommended as the first choice for the treatment of PBB. When children are allergic to penicillin or resistant to amoxicillin-clavulanate potassium, cephalosporins or macrolides can be selected. Although cough relief after 2 weeks of appropriate antibiotic treatment is a critical part of the diagnosis of PBB, there is currently no consensus on the optimal course of antibiotics treatment. The prognosis of PBB is generally good, but frequent recurrence and repeated antibiotic use are common. There is also a risk of progression to bronchiectasis if PBB is recurrent and associated with Haemophilus influenzae infection. Up to now, the understanding of PBB in China started relatively late, and there are still deficiencies in diagnosis and treatment. In order to standardize PBB diagnosis and therapy, this article primarily presents the current state of PBB diagnosis and treatment and highlights issues that still need to be resolved in this area.

Based on the theory of the developmental origins of health and disease, Shanghai Birth Cohort and the Early Life Plan have been conducted in Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine. Utilizing professional knowledge and perspectives, we focus on the first 1 000 days of life, paying close attention to the various environmental factors such as the social and physiochemistry environment, nutrition and health status of the mother during pregnancy and babies after birth. This research aims to provide a basis for the prevention, and treatment of developmental diseases.

The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple systems, primarily manifesting as retinal lesions, polydactylism (or hyperdactylism), obesity, intellectual diminution, sexual duct development deficiency, and renal abnormalities. To date, 26 disease-causing genes have been identified, all of which are localised to the primary cilia, with the BBS1, BBS2 and BBS10 genes being the most common genetic causes. There is no curative therapy for this disease, and symptomatic supportive treatment is the main focus. This paper reviews the disease from the perspectives of clinical characteristics, diagnostic criteria, causative genes, the current situation of BBS patients in China, and treatment, with a view to providing reference for the clinical diagnosis and treatment of this disease.

Atopic dermatitis (AD) is a chronic and recurrent inflammatory skin disease. There is growing evidence that skin barrier dysfunction is an important cause of AD. The lipid matrix in the outermost layer of the skin, namely the stratum corneum (SC), is essential for the skin barrier function. A large number of studies have shown that the decrease of SC lipid content, the shortening of chain length, the change of ceramide (CER) subclass levels and inflammatory responses all affect the skin barrier function of AD patients. This article reviews the relationship between the SC lipid chain length and the skin barrier function in AD patients.

Objective To understand the clinical characteristics of secondary thrombocythemia in children, and to help clinicians improve their diagnosis and treatment. Methods The clinical data of children with secondary thrombocythemia admitted from January to December 2021 were retrospectively analyzed to summarize the causes of the disease, age and gender distribution, and characteristics of inflammatory factors. Results Three hundred and eighty-six children with secondary thrombocythemia were included, with a mean age of onset of (2.0±0.3) years, and 294 children (76.2%) were<3 years old. The median platelet count was 626.5 (567.8-701.0)×10⁹/L, which peaked at 8.0 (7.0-11.0) days of the disease course and then gradually declined.143 children were regularly monitored for blood counts during the recovery period, and platelets returned to normal at 10.0 (7.0-14.0) days of the disease course. The most common cause of secondary thrombocythemia was infection (94.6%), and the three most common pathogens of infection were Mycoplasma pneumoniae, fungi, and adenovirus. The levels of interleukin (IL)-1β, IL-2 receptor, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF)-α were higher in children with secondary thrombocythemia than in those with normal platelets, and the difference was statistically significant (P<0.05). Conclusion The secondary thrombocythemia is most common in children under 3 years of age, and the most common cause is infection. Platelets can be normalized after treatment for the primary disease, and no inhibition of platelet aggregation and anticoagulation is needed in all children except Kawasaki disease.

The two major treatments for mucopolysaccharidosis type Ⅱ (MPS Ⅱ) are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). The restoration of central nervous system function is limited by these two therapies, although they are successful in controlling the worsening of physical symptoms. The main limitation is that the blood-brain barrier (BBB) prevents large molecules, including enzymes, from entering the brain, which can affect the effectiveness of treatment. Gene therapy is an emerging therapy for MPS Ⅱ. This article will describe the current preclinical research status and ongoing clinical trials of MPS Ⅱ gene therapy to demonstrate the latest advances in this field.

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.

After forty-three years of development, China’s newborn screening program has achieved remarkable success. Professor Chen Ruiguan, not only a pioneer in the field of newborn screening in China but also the founder of this discipline. This article comprehensively reviews the development of newborn screening in China, including the expansion of screened diseases and technological innovations, the promulgation of relevant national policies, the significant achievements of newborn screening, and its impact on families and society. It also looks ahead to future directions, commemorating Professor Chen’s outstanding contributions.

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.

Impaired epidermal barrier function plays a pivotal role in the pathogenesis of atopic dermatitis (AD). Emollients can fortify the skin barrier, diminish transepidermal water loss, and maintain stratum corneum hydration. AD is closely associated with comorbidities such as food allergies, allergic rhinitis, and allergic asthma. Implementing effective preventive measures in the early stages of AD can alleviate the economic burden on families and society. This review explores the relationship between AD and skin barrier and allergic diseases, as well as the application of emollients in the prevention of AD, and discusses whether regular use of emollients in early neonates can effectively prevent the occurrence of atopic dermatitis and reduce the risk of allergic diseases.

Birth cohorts are important research tools and resources for exploring the impacts of early life risk factors on offspring’s health throughout their life courses. However, large-scale birth cohorts with long-term follow-up are lack in China. The Born in Guangzhou Cohort Study (BIGCS), a large general-population parent-child prospective cohort, was officially launched in 2012 to conduct long-term longitudinal observation of participating families from pregnancy to offspring. This cohort collected data and biological samples through face-to-face follow-up at multiple time points, including early pregnancy, mid-pregnancy, late pregnancy, delivery, as well as 6 weeks, 6 months, 1 year, 2 years, 3 years, 6 years, and 8.5 years after birth. Cohort children were planned to be followed up to 18 years of age. Up to June 2024, the BIGCS has recruited over 60000 pregnant women and 53000 children, among whom 27000 children are over 6 years old, with over 2.9 million specimens. The aim of this study is to identify the risk factors associated with adverse maternal and children’s health outcomes and explore their potential mechanisms and provide scientific evidences for developing the strategies to improve women and children’s health. This paper will give a brief introduction to the establishment, research progress, and future development of the BIGCS.

Lupus nephritis (LN) is the most common glomerular disease in children, with a more severe onset and progression compared to adults. The prognosis of LN in children is worse than other glomerular diseases and has lifelong effects, although the etiology remains unclear. This article provides an overview of the current diagnosis and treatment status of LN in children, along with a brief description of the treatment for each type of LN based on the latest international guidelines. LN was diagnosed according to the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus. Renal biopsy pathology is an important diagnostic method at present. Treatment for proliferative and non-proliferative LN includes initial therapy and maintenance therapy, following recommendations from adult guidelines. Rational and proactive treatment is crucial for inducing disease remission, preventing relapse, and improving prognosis.

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.

Objective To summarize the clinical features and MRI manifestations of the acute onset of mitochondrial encephalomyopathy (ME) in children, so as to improve the understanding of the disease. Methods The clinical and imaging data of 12 children with confirmed ME from March 2018 to December 2021 were retrospectively analyzed. Results Twelve cases of ME were included, 5 males and 7 females, with a median age of 8 years and 6 months. The main symptoms included stroke-like episodes (8 cases, 66.7%) and headache (7 cases, 58.3%); laboratory tests showed increased serum lactate in 10 cases (83.3%), and genetic testing was positive in 9 cases (75%). 11 cases of cranial MRI scanning detected the lesion, and the lesion areas all showed large patchy T1WI low signal, T2WI/T2-FLAIR high signal, of which nine cases involved cortical and subcortical regions, with the temporoparieto-occipital lobe being the most susceptible area, and the other two cases symmetrically involved the basal ganglia/brainstem and cerebellar hemispheres/brainstem, and six cases were combined with cerebral atrophy; diffusion-weighted imaging (DWI) in seven cases showed that the diffusion of the disease was limited in six cases; magnetic resonance angiography (MRA) in four cases showed that there was an increase in the number of branches of the middle cerebral artery of the affected side; arterial spin labelling (ASL) in three cases showed that the lesion area was highly perfused; and MRS in six cases suggested that the lesion area was highly perfused; and spectroscopy (MRS) suggested that elevated lactate peaks were detected in the lesion area in six cases. Conclusions The most common clinical symptoms of ME in children are stroke-like episodes. Genetic testing may be negative in a few cases, and increased serum lactate is common but not specific; MRI has some characteristic features, including unilateral temporoparieto-occipital cortex and subcortical patchy T2-FLAIR high signals, restricted dispersion and hyperperfusion of the lesion in the acute phase, and increased peaks of lactate in the brain tissue of the lesion, with an increase in the branches of the middle cerebral artery on the affected side.

Objective To explore the clinical features, gene variation and follow-up results of children with isovaleric acidemia (IVA), and to provide evidence for early recognition, diagnosis and treatment of IVA. Methods The clinical data of children diagnosed with IVA in the Department of Pediatric Endocrinology from April 2012 to October 2023 were retrospectively analyzed. Results Of the 34 children with IVA (22 boys and 12 girls), 15 had acute neonatal type, 3 had chronic intermittent type, and 16 had asymptomatic type confirmed by neonatal screening. Compared with asymptomatic group, blood isovalerylcarnitine (C5) level, C5/ acetylcarnitine (C2) ratio, C5/ propionylcarnitine (C3) ratio and urine isovalerylglycine level in the group with clinical symptoms (including acute neonatal type and chronic intermittent type) were significantly increased, with statistical significance (P<0.05). A total of 40 mutations were identified in 34 patients, most of which were missense mutations (30/40, 75.0%) and c.1208A>G (n=8) was the most frequent variant. There was no significant correlation between clinical manifestation and type of gene variation. Four patients, all of whom belonged to the acute neonatal type, died during follow-up. Thirty surviving children had considerably lower urinary isovalerylglycine levels at the most recent follow-up, with a statistically significant difference from before therapy (P<0.05). Conclusions Clinical manifestations of IVA lack specificity. Elevated C5, C5/C2 ratio and C5/C3 ratio in plasm and isovalerylglycine in urine are typical hallmarks of IVA. Newborn screening is pivotal for early diagnosis, treatment, and prognosis.

The high-throughput sequencing technology of genomic DNA has greatly improved the diagnostic efficiency of rare diseases, but currently there are still some patients who have not been diagnosed. In recent years, various detection techniques such as transcriptome, proteomics, metabolomics and lipidomics, and epigenetics have gradually been applied in clinical practice, making it possible to comprehensively diagnose rare disease patients based on these multiomics methods. On the other hand, with the increase of confirmed cases, how to effectively integrate patient clinical data and build rare disease databases to meet the construction needs of high-quality research-oriented patient cohorts has become an increasingly important issue for governments around the world. More importantly, the development of big data models that integrate multiomics information can promote the application of artificial intelligence and machine learning in rare disease research. This will contribute to the clinical evaluation and precise classification of rare disease patients, and effectively improve the research and development efficiency of innovative diagnostic and therapeutic technologies such as gene therapy. Rare disease research has entered the era of digital medicine, which is also a practical need to meet the precise diagnosis and personalized treatment of patients at a higher level.

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 To explore the clinical, endoscopic, and histopathological characteristics of colorectal polyps in children, as well as the application of different endoscopic treatment methods, so as to provide reference value for the clinical diagnosis and treatment of colorectal polyps in children. Methods The clinical data of 361 children under 14 years of age diagnosed with colorectal polyps and undergoing painless colonoscopy examination and treatment were retrospectively analyzed. Results Colorectal polyps in children are more commonly seen in males (245 cases, 67.87 %) compared to females (116 cases, 32.13 %). The most prevalent age group is the preschool period, accounting for 44.88 % (162/361) of all patients. The most common symptom is hematochezia, observed in 86.70 % (313/361) of cases. There were 288 cases (79.78 %) with a single polyp and 73 cases (20.22 %) with multiple polyps. The polyps in children are mainly located in the left half of the colon (347 cases, 96.12 %). The clinical manifestations and the number of polyps differ significantly across different age groups of children (P<0.05). Endoscopic polypectomy was performed on 459 polyps, all of which were successfully removed. Intraoperative bleeding occurred in 252 cases (69.81 %), and metallic titanium clip closure was the most commonly used hemostasis method (186 cases, 73.81 %). There were 12 patients with recurrence (3.32 %), and the patients with multiple polyps were more likely to relapse (P<0.001). Conclusions Colorectal polyps are more commonly found in male children, with hematochezia being the most frequent clinical symptom. They are prevalent during the preschool age, often located in the left half of the colon, and usually appear as single formations. The predominant morphology is Yamada type IV, with large polyps being the most common. Histopathologically, juvenile polyps are the primary type. Polyps of different shapes and sizes were treated by different endoscopic methods. Micro polyps without a stalk are mainly treated using cold forceps polypectomy; giant polyps and those with a stalk are primarily removed using hot snare polypectomy; small polyps and those without a stalk are mainly treated using endoscopic mucosal resection.

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 investigate the efficacy and safety of modified CLAG regimen (cladribine + cytarabine + granulocyte colony-stimulating factor) with reduced chemotherapy dose in the treatment of children with relapsed/refractory acute myeloid leukemia (R/R-AML). Methods The clinical data of children with R/R-AML treated with the modified CLAG regimen from June 2016 to April 2023 were retrospectively analyzed, and the overall response rate (ORR), incidence of adverse reactions, overall survival (OS) rate, and event-free survival (EFS) rate were calculated. Results Among all the children, 17 had recurrent AML, of them 1 had testicular leukemia recurrence, 3 had secondary recurrence in the bone marrow, and the rest had first recurrence in the bone marrow. Nine patients had refractory AML. All children completed 1 course of chemotherapy with modified CLAG regimen, and hematopoietic stem cell transplantation (HSCT) was bridged in 1 patient with no assessed response to treatment, with an ORR of 84.0 % (21/25) in the remaining 25 children. The ORR was 81.3 % (13/16) in the relapsed children and 88.9 % (8/9) in the refractory children. The ORR was 76.9 % (10/13) in children with low risk cytogenetic stratification and 91.7 % (11/12) in children with moderate and high risk cytogenetic stratification. The 64-month OS and EFS rates of all patients were 69.7 % and 63.3 %, respectively. The 64-month OS and EFS rates of 15 children who responded to treatment and successfully bridged allogeneic HSCT were 92.3 %. The most common adverse reactions were myelosuppression (100 %) and gastrointestinal reactions (100 %), followed by infection (57.7 %), elevated transaminases (34.6 %), and bleeding (19.2 %), and one child abandoned treatment due to grade 4 intracranial hemorrhage. All other adverse reactions were improved after symptomatic treatment. Conclusions The modified CLAG regimen with reduced chemotherapy dose is an effective and safe treatment option for children with R/R-AML.