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.

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.

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 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 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.

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.

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.

Objective To identify KIF12 mutation in an infant with progressive familial intrahepatic cholestasis 8 (PFIC8) and to explore the functional consequences of the mutation. Methods The clinical data of the infant with PFIC8 were analyzed, and whole exome sequencing was conducted on the patient and his parents, and the variation was verified by Sanger sequencing. Immunofluorescence staining, cell phenotyping, qPCR and Western blotting were utilized to investigate the effect of the causative mutations on the gene functions. At the same time, the clinical data and gene variation of 17 reported PFIC8 patients were reviewed. Results The proband, a male infant aged one month and 14 days, exhibited symptoms of fever and jaundice. Whole exome sequencing showed that the KIF12 gene of the patient had a compound heterozygous mutation of c.539G>A+c.928C>T, which had not been reported before. Immunofluorescence staining of liver sections from the patient suggested that the mutation altered the subcellular localization of KIF12 protein within hepatocytes. In 293 T cells, phenotyping of the mutants revealed that c.539A, c.928T and c.539A+c.928T resulted in decreased mRNA levels of KIF12, while c.928T and c.539A+c.928T reduced the protein expression levels of KIF12. A review of the literature revealed seven single site mutations of KIF12 and a compound heterozygous mutation (c.538C>T+c.539G>A) that have been reported. Existing data indicated that the types of KIF12 mutations were not correlated with the extrahepatic clinical phenotypes of PFIC8 patients. Conclusions A novel compound heterozygous mutation was identified in an infant with PFIC8. Among the nine KIF12 mutations identified to date, the mutation types were not associated with the extrahepatic clinical phenotypes of PFIC8.

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.

The rapid development of socio-economics has led to prominent derivative issues such as changes in psychological health, behavioral lifestyles, and environmental quality, which urgently require long-term cohort studies on birth cohorts. These studies should focus on the impact of material and social environmental factors on the health of people in mega-cities and seek the patterns and risk factors of diseases in the new era. The Shanghai Maternal-Child Pairs Cohort (MCPC) adopts a comprehensive and meticulous follow-up approach that integrates "community + obstetric hospitals + schools," conducting 13 follow-ups on 6714 mother-child pairs from early to mid-pregnancy, the delivery period, and the offspring from birth to six years old. MCPC has established a follow-up information database containing millions of data entries, including standardized questionnaires, maternal and child disease diagnosis, child physical growth, body composition, spinal deformities, fingerprint and palmprint, grip strength, physical activity, cognitive ability, and language development level tests, as well as clinical medical records. Additionally, a biobank has been created with 600000 samples from 17 categories, including peripheral blood, umbilical cord blood, finger prick blood, meconium, placenta, urine, feces, buccal mucosa, hair, and nails. Furthermore, 21 standardized SOP documents have been formulated to manage and control the entire process of the sample bank, from collection to cold chain transportation, storage, retrieval, and return. This cohort platform not only provides crucial support for revealing the impact of early-life environmental exposures on population health and multi-omics research but also promotes interdisciplinary innovation.

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.

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.

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

Objective To report the clinical characteristics and genetic variant of a patient with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and to investigate the genotypic-phenotypic correlation through literatures review. Methods The clinical data of a MMIHS child who came to our hospital in October 2023 due to "repeated abdominal distension and vomiting for more than 3 years" were analyzed. Peripheral blood samples were collected from the patient, his parents and his older sister, and the pathogenic mutation was screened by Trio-WES and Sanger sequencing. Relevant literature was summarized and analyzed. Results The patient, a 15-year-old boy, presented with recurrent episodes of abdominal distension, vomiting, and abdominal pain. Abdominal X-ray and upper gastrointestinal contrast study indicated intestinal obstruction. The condition stabilized after treatment with enema, anti-infection and intravenous nutritional support. Genetic testing revealed a heterozygous mutation in the MYH11 gene, identified as c.5819delC (p.Pro1940Hisfs*91), which resulted in the extension of the C-end of the myosin heavy chain and was not detected by either parent or sister. A total of 7 articles related to MYH11 gene mutation were included in the literature review. Mutation types included missense mutations, frameshift mutations, and chromosomal microdeletion. Gender was undetermined in 2 out of 20 patients due to early termination of pregnancy. Among the remaining patients, the male-to-female ratio was 2:1. Genotypic-phenotypic correlation analysis found that 15 patients with dominant heterozygous protein‐elongating MYH11 variants were aged 9 (0-28) years at onset, and no deaths were reported. Five patients with recessive loss-of-function mutations had an onset age of less than 1 year, with 4 deaths (80%). Conclusion This MMIHS patient carries the MYH11 gene c.5819delC (p. Pro1940Hisfs*91) mutation. Compared with patients with MYH11 gene mutation recessive inheritance, those with dominant MYH11 mutations tend to have a later onset, milder clinical manifestations, and a higher survival rate.

Objective To explore the efficacy and safety of different doses of cytarabine (Ara-C) in FLAG-IDA regimen as induction therapy in children with acute myeloid leukemia (AML). Methods 121 children who newly diagnosed AML from January 2015 to October 2022 were enrolled in this study. Participants were divided into two groups according to the dose of cytarabine used in the FLAG-IDA induction chemotherapy regimen: the standard-dose (SD) group and the high-dose (HD) group. Therapeutic efficacy and toxicity and side effects of the two groups after the induction chemotherapy were compared. Result A total of 121 children with AML were included, 71 males and 50 females, with a median age at first diagnosis of 6.7 (2.6~10.9) years. There were 30 cases in the SD group and 91 cases in the HD group. Compared with the SD group, the CR rate of induction chemotherapy in the HD group was lower, the duration of neutropenia was shorter, and the levels of AST and ALT after chemotherapy were higher, and the difference was statistically significant (P<0.05). There was no statistically significant difference in toxic and side effects between the two groups (P>0.05). The median follow-up time was 37.0 (12.0~46.0) months. The 3-year OS and EFS of the SD group were (91.1±6.0) % and (79.5±8.3) % respectively, and the 3-year OS and EFS of the HD group were (64.5±11.5) %and (57.5±10.7) % respectively. There was no statistically significant difference in 3-year OS and EFS between the two groups (P>0.05). Conclusion Standard-dose cytarabine can obtain better efficacy and less side effects in induction chemotherapy.

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.

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 summarize the clinical process of patients with non-Hodgkin 's lymphoma (NHL) secondary to acute leukemia after treatment, and to explore the mechanism of NHL secondary to acute leukemia after treatment. Methods The clinical data of child with T-lymphoblastic lymphoma (T-LBL) secondary to acute promyelocytic leukemia (APL) was retrospectively analyzed, and the literature reports of NHL secondary to acute leukemia after treatment were summarized. Results The patient was a 10-year-old boy who presented with "intermittent fever" and was diagnosed with APL. After treatment, bone marrow relapsed and a complete remission was achieved after adjusting the treatment regimen, however, T-LBL was diagnosed due to enlarged lymph nodes at the end of the leukemia treatment, and remission was achieved again after standardized chemotherapy. Searching the literature over the last 10 years, a total of 9 cases of non-Hodgkin's lymphoma secondary to acute leukemia treatment have been reported, all in adults, and 6 of these patients were disease-free survival up to the time of reporting. Conclusion The incidence of secondary NHL after acute leukemia treatment is low and the prognosis is favorable. In addition, for patients after chemotherapy for neoplastic diseases, it is crucial to monitor the incidence of secondary tumors and employ advanced diagnostic techniques to enhance understanding of the pathophysiology underlying these secondary malignancies.

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

Objective To 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.

Vestibular dysfunction (VD) is commonly associated with hearing impairment in infants, underscoring the necessity for vestibular function screening and assessment. Early detection and diagnosis of VD through vestibular function screening, followed by prompt intervention and rehabilitation, are crucial for mitigating the adverse effects of VD and have significant clinical implications. This paper discusses the methods and applicability of vestibular infant screening, as well as the optimal timing for such screenings, to enhance the clinical understanding of vestibular function examination in infants.

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.

Acute kidney injury is one of the most common multiple organ dysfunctions in critically ill children, which can cause protein-energy wasting, exacerbate renal impairment, and lead to extremely high mortality. Given the complexity of the nutritional and metabolic mechanisms of AKI and the lack of relevant basic research, and how to meet the nutritional needs of AKI substitutes faces more unique challenges. The Pediatric Kidney Injury Nutrition Working Group formulated the clinical practice recommendations of “Nutritional Management of Children with Acute Kidney Injury”. The purpose of this article is to interpret the recommendation, with a view to providing reference for the construction of a systematic nutritional management program for children with AKI in the in the domestic field of pediatrics.

Objective To summarize the etiology and clinical features of 50 children with stage 5 chronic kidney disease (CKD) treated at a tertiary hospital in western China in the past 10 years and to establish a theoretical basis for the investigation of chronic kidney disease in children. Methods The clinical data of 50 children aged 0-18 years with CKD5 who visited the General Hospital of Ningxia Medical University from January 1, 2010 to June 30, 2021 were retrospectively collected, and their etiological composition and clinical features were analyzed. Results Among the 50 children with CKD stage 5, 31 (62.0 %) were male and 19 (38.0 %) were female. The age of onset was 0.5-18 years old, including 8 cases (16.0 %) aged 0-6 years, 17 cases (34.0 %) 7-12 years old, and 25 cases (50.0 %) aged 13-18 years. At the initial diagnosis, there were 9 cases (18.0 %) with no obvious symptoms, 15 cases (30.0 %) with primarily renal symptoms, and 26 cases (52.0 %) with mainly extrarenal symptoms. The primary cause of the disease was glomerular disease in 26 cases (52%) and congenital renal and urinary tract malformations in 12 cases (24.0 %). Complications observed were anemia in 49 cases (98.0 %), chronic kidney disease-mineral and bone abnormalities (CKD-MBD) included hyperphosphatemia in 49 cases (98.0 %), secondary hyperparathyroidism in 38 cases (76.0 %), hypocalcemia in 33 cases (66.0 %), vitamin D deficiency in 27 cases (54.0 %), water electrolyte acid-base disorders including hyperuricemia in 40 cases (80.0 %), hyperkalemia in 15 cases (30.0 %), hypertension in 28 cases (56.0 %), growth disorder in 18 cases (36.0 %), and refinement of nephropuncture biopsy in 7 cases (14.0 %), exoms sequencing in 5 cases (10.0 %). loss of follow-up in 2 cases (4.0 %), death in 11 cases (22.0 %), long-term hemodialysis in 15 cases (30.0 %), long-term peritoneal dialysis in 13 cases (26.0 %), and kidney transplantation in 11 cases (22.0 %). Conclusions The main cause of children with CKD stage 5 in this region is glomerular disease; the incidence rate is higher in males than females, and higher in older than younger children; the first symptom is more common with extra-renal manifestations, and the most common complications are anemia and CKD-MBD; the prognosis of children who have completed renal transplantation is better, but the vast majority of them opt for dialysis treatment, which is predominantly hemodialysis; and the main causes of death are severe infections and diseases of cardiovascular system.

Objective To analyze the clinical characteristics and laboratory findings of 348 children with infectious mononucleosis (IM). Methods Clinical features, complications and laboratory findings of children hospitalized with IM from January 2019 to February 2022 were included. The clinical characteristics, complications and laboratory indicators were retrospectively analyzed. Results A total of 348 children with IM were included, 185 male (53.2 %) and 163 female (46.8 %), aged 1-15 years old, mainly 4-6 years old (preschool group) (49.1 %) ; The season of onset was mainly in summer, with a high incidence in June-August. The main clinical symptoms were fever in 289 cases (83.0 %), eyelid edema in 192 cases (55.2 %), nasal obstruction 182 cases (52.3 %). Compared with the ≤3 years old and 4-6 years old groups, the >6 years old group had a lower proportion of fever and a higher proportion of pharyngitis (P<0.05). The incidence of angina and lymphadenopathy in school-age group was significantly higher than ≤3 years old group (infant group) (P<0.05), and the incidence of hepatosplenomegaly in preschool group was significantly higher than the other two groups (P<0.05). The symptom of nasal obstruction in infant group was significantly higher than other two groups (P<0.05). The differences in lymphocyte counts, CD4⁺/CD3⁺, CD8⁺/CD3⁺, CD4⁺/CD8⁺, glutamate aminotransferase, glutamyl transpeptidase, and lactate dehydrogenase between the ≤3, 4-6, and >6 year old groups were statistically significant (P<0.05). Complications in children with IM were predominantly liver injury in 133 cases (38.2 %), followed by neutropenia (53 cases, 15.22 %), and sepsis (27 cases, 7.75 %). Compared to the non-hepatic injury group, the hepatic injury group had a lower proportion of males, older age, higher lymphocyte counts, and lower neutrophil-lymphocyte ratios (NLR) and monocyte-lymphocyte ratios (MLR), with a statistically significant difference (P<0.05). Conclusion IM in children has a high incidence, predominantly in preschool children, with variable and atypical early clinical manifestations and liver injury as the most common complication. Gender, age, lymphocyte count, NLR and MLR may be associated with liver injury.

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.

Glycogen storage cardiomyopathy is a class of cardiomyopathies caused by the excessive accumulation of glycogen in myocardial cells due to defects in glycogen metabolism. The most common types include glycogen storage disease type Ⅱ (Pompe disease), Danon disease, and PRKAG2 cardiac syndrome. These conditions are important etiology of hypertrophic cardiomyopathy in children. The main symptoms of glycogen storage cardiomyopathy include myocardial hypertrophy, arrhythmias, and heart failure. In severe cases, it can lead to early death. Early recognition and diagnosis, along with appropriate intervention, have the potential to improve symptoms of cardiomyopathy and enhance the quality of life for patients. Therefore, increasing the awareness of glycogen storage cardiomyopathies among clinical physicians is of significant importance.

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 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.

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

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.

Objective To investigate the clinical manifestations, treatment and follow-up of RYR2 gene variation-related catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods The clinical data of CPVT children admitted from January 2017 to January 2023 were retrospectively analyzed, and the course of treatment and follow-up results were summarized. Results A total of 6 children (4 boys and 2 girls) with CPVT were admitted, and the mean age of the patients was (3.5±0.5) years old when the first symptoms appeared. The median time from first symptom onset to diagnosis was 1.5 (0.1-5.9) years. The most common clinical manifestation was syncope, with exercise and emotions being the main triggers. All 6 children had de novo missense mutations in the RYR2 gene identified through whole-exome sequencing. In dynamic electrocardiography, atrial arrhythmias and sinoatrial node dysfunction were commonly observed in younger children. Four patients underwent exercise stress testing, with 2 experiencing bidirectional ventricular premature contractions and 2 experiencing bidirectional ventricular premature contractions and polymorphic ventricular tachycardia. Initial treatment involved oral propranolol or metoprolol. If arrhythmias persisted, flecainide or propafenone was added as adjunctive therapy. Two patients received permanent cardiac pacemaker treatment (VVI). The mean follow-up time was (24.3±3.7) months, and all patients survived. During the follow-up period, 3 children had occasional syncope, 1 had intermittent palpitation, and 2 had no discomfort. Conclusions CPVT associated with RYR2 gene variations in children can present with various clinical manifestations. Atrial arrhythmias combined with sinoatrial node dysfunction are commonly observed in younger children. The combination of pharmacological therapy and cardiac pacemaker treatment yields favorable treatment outcomes.

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

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.

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

Objective To analyze the efficacy and safety of dual-targeted CD19/CD22 chimeric antigen receptor T-cells (CAR-T) in the treatment of refractory/relapsed B-lineage acute lymphoblastic leukemia (B-ALL) in children with MLL gene rearrangement (MLL-r). Methods The clinical data of children with MLL-r positive R/R B-ALL treated with dual-targeted CD19/CD22 CAR-T therapy between October 2019 and November 2021 were retrospectively analyzed. Results A total of 37 children (24 boys and 13 girls) with MLL-r positive R/R B-ALL were included and the median age was 1.2 (0.5-2.6) years at diagnosis, of whom 17 (45.9%) had infantile leukemia. At a median time of 9 (7-13) days after CAR-T cell infusion, 37 patients achieved a complete response rate of 100%. With a median follow-up of 28.2 (11.3 to 30.9) months, the 3-year overall survival rate was 67.6% (95% CI: 52.5 to 82.7%), and the 3-year event-free survival rate was 59.5% (95% CI: 43.6 to 75.4%).Twenty-eight patients (75.7%) underwent allogeneic hematopoietic stem cell transplantation after CAR-T cell therapy, and the median time between CAR-T infusion and transplantation was 83 (61 to 92) days. The 2-year OS for children who received consolidation grafts was 75.0% (95% CI: 58.9 to 91.1%), compared to 44.4% (95% CI 11.9 to 76.9%) for those who did not receive grafts. The difference between the two groups was not statistically significant (P=0.068). A total of 13 patients (35.1%) relapsed, and the median time from cell infusion to recurrence was 156 (86 to 202) days. Among them, 4 cases had double-positive recurrence of CD19 and CD22, 2 cases had double-negative recurrence of CD19 and CD22, 4 cases had CD19-negative recurrence, 1 case had myeloid transformation, and the other 2 cases were unclear. Cytokine release syndrome occurred in 97.3% (36/37) of patients in this study, with 29.7% (11/37) achieved grades 3 to 4. Immune effector cell-associated neurotoxicity syndrome was observed in 5 (13.5%) patients. There were no deaths due to CAR-T comorbidities.Conclusions CD19/CD22 CAR-T cell therapy is effective in inducing rapid remission in MLL-r R/R childhood B-lineage acute lymphoblastic leukemia with tolerable side effects.

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.

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

Digestive system involvement is common in juvenile systemic lupus erythematosus (JSLE). Gastrointestinal involvement occurs in 15% to 60% of children with JSLE, and 2% to 30% of gastrointestinal symptoms are directly attributable to JSLE. The main pathological changes of JSLE are inflammation and vasculitis, and the symptoms are not specific. Clinically, it can be manifested as lupus mesenteric vasculitis, hepatitis and pancreatitis, so early recognition is of great significance. For children with JSLE who present with digestive system symptoms, the cause should be identified based on objective laboratory findings and treated accordingly. Once it is clear that the digestive system is caused by JSLE itself, adequate glucocorticoids should be used intravenously at an early stage, and pulse therapy should be given if necessary. This paper reviews the progress of etiology, pathology, clinical manifestations, diagnosis, differential diagnosis and treatment of JSLE digestive system involvement, and provides suggestions for further improving the diagnosis and treatment norms applicable to JSLE digestive system involvement.

Objective To explore the clinical features of Langerhans cell histiocytosis (LCH) with sclerosing cholangitis (SC) as the first manifestation, aiming to enhance the understanding of LCH in children with liver involvement. Methods Cases in the electronic medical record system of Guangzhou Women and Children’s Medical Center who were diagnosed with SC at the first visit and subsequently diagnosed with LCH were retrospectively analyzed. The clinical manifestations, lab examination, imaging, treatment process, and prognosis were summarized. Results There were six cases of LCH with SC as the first manifestation. The female-to-male ratio was 5:1, and the median age was 12 months (ranging from 12 to 22 months). All six patients present cholestasis as the first manifestation, which was characterized by abnormalities in liver function, mainly elevated γ-glutamyl transpeptidase and direct bilirubin levels. Their magnetic resonance cholangiopancreatography (MRCP) showed focal intrahepatic bile duct stenosis and dilatation, leading to the radiological diagnosis of SC. Five cases were diagnosed with LCH after immunohistochemical staining of the skin rash tissue, four of which presented with SC accompanied by skin rash; one case had SC alone, and the diagnosis was confirmed by a tissue biopsy of skin rash that developed over following two months. One presented with SC accompanied by diabetes insipidus caused by pituitary involvement, whose 2 Liver puncture biopsies only showed nodular cirrhosis, and LCH was confirmed by immunohistochemical staining of liver mass tissue after liver transplantation. Six cases received first-line chemotherapy protocol after LCH diagnosis. One showed systemic remission after liver transplantation with chemotherapy and symptomatic treatment. Four showed improvement in systemic condition but no significant improvement in the liver imaging examinations at the end of the follow-up. One died of liver failure. Conclusions SC is one of the advanced and severe form of LCH liver involvement, with or without other tissue and organ lesions. Diagnosis requires a combination of characteristic skin rash, osteolytic changes, and tissue involvement such as pituitary gland, as well as a pathological diagnosis.The prognosis of SC due to LCH is poor. SC in combination with cirrhosis, especially with portal hypertension, intractable itching of the skin, or growth retardation, may be considered for liver transplantation, and chemotherapy may be a therapeutic approach with a better prognosis after the operation.

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 analyze the clinical characteristics and treatment methods of primary intestinal lymphangiectasia (PIL) in infants and to improve clinical diagnosis and treatment. Methods A retrospective analysis was conducted on the clinical manifestations, laboratory tests, nuclear imaging examinations and treatment methods of four cases of PIL in infants admitted to the Department of Lymphatic Surgery at Beijing Shijitan Hospital from October 2012 to December 2013. The diagnosis and treatment of infantile PIL were summarized based on long term follow-up results. Results The patients aged 4-9 months and are all female. All 4 patients presented with diarrhea as the initial symptom, accompanied by symmetrical edema of the lower limbs, and 3 cases were complicated with respiratory infections. Laboratory tests showed a decrease in absolute values of blood lymphocytes, albumin, and globulin. Four patients presented with mild anemia, hypocalcemia, and iron deficiency. Radionuclide imaging indicated loss of intestinal proteins. Four patients were treated with liver protection, protein supplementation, dieresis and total parenteral nutrition for 3-4 weeks. After discharge, personalized medium chain triglycerides (MCT) dietary treatment was administered for 3-30 months. Following up for 10 years, 4 patients resumed normal diet and had normal blood albumin levels rechecked, with no recurrence. Conclusions Infant PIL is relatively rare, with clinical manifestations mainly characterized by diarrhea and edema, it is often accompanied by respiratory infections. Electrolyte disorders, such as hypocalcemia and iron deficiency, are more common. In infant patients suspected of PIL, radioactive nuclide testing may serve as the first choice for definitive diagnosis A sufficient course of total parenteral nutrition in conjunction with personalized MCT diet is an effective treatment for PIL in infants.

Objective This study aimed to investigate the changes and the clinical implications of peripheral blood mucosal associated invariant T (MAIT) cells in children with chronic hepatitis B (CHB). Methods The investigation encompassed 20 patients with CHB and an equal number of age-matched healthy controls (HC). Peripheral blood specimens were obtained and analyzed using flow cytometry to quantify the presence of MAIT cells (defined as CD3⁺CD161⁺TCRVα7.2⁺), their subtypes, and the expression of various markers including PD-1, CD69, perforin, CD107α, CXCR3, CXCR6, and CCR6. Statistical comparisons between the groups were made using the Mann-Whitney U test and Spearman's correlation analysis. Results No significant differences were observed in the proportion of MAIT cells and their subtypes between the CHB and HC groups (P>0.05). However, the CHB group exhibited a significant increase in the proportion of MAIT cells expressing PD-1, CD69, CD107α, CXCR3, CXCR6, CCR6, and perforin (P<0.05). There was no significant correlation between the proportion of MAIT cells expressing CD69, PD-1, CD107α, perforin, CXCR6, CCR6 and CXCR3 and the levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), and hepatitis B virus (HBV) DNA fluorescent quantitation (P>0.05). Conclusion The distinct immunological functions of peripheral blood MAIT cells may contribute to the pathogenesis of CHB in pediatric patients.

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

Objective To investigate the clinical phenotypic and genotypic features of FOXG1-related syndrome. Methods The clinical data and genetic test results of 3 children with FOXG1-related syndrome treated in our hospital from January 2018 to January 2022 were analyzed retrospectively. Results Three children with FOXG1-related syndrome were included, all male, with postnatal onset. All the patients had early-onset dyskinesia, global developmental delay and microcephaly. Whole exome sequencing showed that all 3 patients had the pathogenic variation of FOXG1 gene. Brain magnetic resonance imaging (MRI) was characterized by hypoplasia of the frontal cortex and/or corpus callosum or delayed myelination. Case 1 had a frameshift mutation of c.256dupC (p.Gln86Profs*35) at the N-terminal domain site in the FOXG1 gene, and case 2 had a nonsense mutation of c.595G>T (p.Glu199*) in the fork-head binding domain of FOXG1 gene. A nonsense of c.1178C>A (p.S393*) was found in the JARID1B binding domain of FOXG1 gene in case 3. Case 3 had a milder clinical phenotype and brain abnormalities than the other 2 patients. The variations of cases 2 and 3 had not been previously reported in the literature, which expanded the gene spectrum of the disease. Conclusions FOXG1 variation should be considered for individuals with early-onset dyskinesia, developmental delay, microcephaly and characteristic brain imaging lesions.

The patient, male, 6 years and 10 months old, was admitted to our hospital because of “repeated fever for 2 months and mental fatigue for half a day”. The patient had congenital heart disease in the past, and fever occurred after modified body to pulmonary circulation shunt. Multiple blood cultures indicated methicillin-resistant Staphylococcus aureus (MRSA), and echocardiography indicated that the tube was not smooth. The patient was diagnosed with infective endocarditis, and vancomycin, linezolid, meropenem and other anti-infective drugs were given. After the use of drugs, bone marrow suppression is obvious, infection control is poor. Emergency surgery was performed to remove the redundant organisms and recurrent fever after central shunt surgery. The patient’s condition improved and the infection was stably controlled, after switched to contizolamide anti-infective treatment with contezolid. Follow-up six months, the child has no recurrent infections, there is no organ damage and bone marrow suppression phenomenon, the echocardiogram showed that the blood flow is smooth. This case is intended to provide clinical ideas for clinicians to deal with this kind of complex infection, and to discuss the choice of drugs for anti-infection treatment of drug-resistant bacteria in children.

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

Objective To study the clinical features and prognosis of tumor lysis syndrome (TLS) in children and provide clinical guidance for the prevention and treatment of TLS. Methods The clinical data of patients with TLS from December 2014 to March 2023 were retrospectively analyzed for their clinical features and prognosis. Results A total of 38 children with TLS were included, 27 males and 11 females, with a median age of 6.6 (2.9-9.9) years.. Among these children, 18 were diagnosed with acute lymphoblastic leukemia, 8 with acute myeloid leukemia, and 12 with Burkitt lymphoma, of which 12 cases (31.6 %) were combined with renal infiltration. 37 cases (97.4 %) developed TLS from 24 hours before chemotherapy to 72 hours after the start of chemotherapy, 21 cases were consistent with clinical TLS, and 17 cases with laboratory TLS. The main manifestations of TLS were acute kidney injury (AKI, 20 cases), nausea and vomiting (18 cases), fever (18 cases), chest tightness, and hypoxemia (12 cases). 21 children were transferred to the PICU for treatment of disease exacerbation, and a total of 3 TLS-related deaths occurred. Uric acid was lowered by allopurinol in 16 cases and by recombinant uric acid oxidase in 22 cases. Compared with the allopurinol group, the recombinant uric acid oxidase group had a higher proportion of laboratory TLS and a lower incidence of AKI and severe transfer to the PICU, with statistically significant differences (P<0.05). The LDH and uric acid levels in the allopurinol group were higher at the five time points of -3 d before the onset of TLS, the same day of TLS, and +1 d, +3 d, and +5 d after TLS, and the levels in the allopurinol group were higher at the five time points of -1 d, +1 d, +3 d, and +5 d after TLS. The difference between the LDH, uric acid and blood creatinine levels in the recombinant uric acid oxidase group was statistically significant (P<0.05). The uric acid levels in the recombinant uric acid oxidase group were lower than those in the allopurinol group at +1 d, +3 d and +5 d after the onset of TLS, and the difference was statistically significant (P<0.05). Conclusion Patients with high-load hematological tumors have a high risk of TLS at the early stage of treatment, and uric acid oxidase can effectively lower uric acid, reduce the occurrence of AKI, lower the rate of severe disease, and shorten the duration of TLS.