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

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

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

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

Objective To 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 To review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature. Methods Clinical data, laboratory and imaging results and genetic data were collected and followed up. Results The patient was a boy aged 10 years and 11 months. Clinical manifestations included short stature, anemia and thrombocytopenia were indicated by laboratory examination, and the peak value of growth hormone stimulation test was 31 μg/L. Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation, inherited from the proband's mother and father respectively; His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features, including short stature, anemia, thrombocytopenia, and leukopenia. Notably, the c.286T>C has not been previously reported in the literature and represents a novel mutation site. Growth hormone treatment for half a year, the height increased by 2.1cm, indicating poor therapeutic efficacy. Regular outpatient follow-up shows that there is still anemia and thrombocytopenia. Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome, and genetic examination should be improved. The c.286T>C mutation identified in this case is a novel mutation site. In this instance, growth hormone therapy proved ineffective.

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.

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 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.

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.

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.

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.

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 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.

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.

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

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

Objective 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.

Fetal cardiac intervention (FCI) has evolved since its inception in 1991. With the improvement in technical success rates, reduction in complications, and enhancement of fetal outcomes, this technique has gradually gained recognition and promotion. The establishment of the International Fetal Cardiac Intervention Registry has facilitated international exchange and technological development in this field, with over 400 clinical cases reported worldwide. In China, several medical institutions in Guangdong, Shanghai, Qingdao, Chongqing, and other regions have initiated in-utero cardiac intervention treatments, although the number of cases remains limited. This article summarized the types of fetal in-utero cardiac interventions, the procedural process, surgical complications, indications for treatment, and treatment outcomes, while also highlighting current challenges and future prospects of the technology.

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 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.

Acute lymphoblastic leukemia (ALL) is the most common malignancy in children, and its central nervous system complications significantly impact the prognosis of children. In addition to the brain damage caused by ALL itself, recent researches have shown that anti-tumor therapy may also result in adverse effects. Investigating central nervous system injury associated with anti-tumor therapy in children with ALL is crucial for early identification and intervention of complications, ultimately leading to improved prognosis and quality of life for children.

Objective To analyze the clinical characteristics and prognosis factors of high-risk neuroblastoma (NB) in children. Methods A retrospective analysis of clinical data collected from children with high-risk NB from May 2017 to May 2022. Follow-up was conducted until February 1,2023. Prognosis-related factors were analyzed by comparing different clinical characteristics, treatment regimens, and survival status. Results Sixty high-risk NB children were included in this study, consisting of 36 males (60.0%) and 24 females (40.0%). The median age at diagnosis was 45 (8-103) months, median follow-up time was 39 (2-65) months, median time to disease progression/recurrence was 18 (2-62) months; and the median survival time was 41 months.. The 1-year, 2-year and 3-year overall survival (OS) rate were 76.4%, 65.6% and 54.8% respectively. The event-free survival (EFS) rate at 1 year, 2 years, and 3 years were 63.0%, 41.9% and 31.6% respectively. As of February 1, 2023, there were 34 survivors (56.7%) and 26 deaths (43.3%), with 17 of the deaths (65.3%) due to recurrence. Univariate survival analysis showed that pathological type, clinical stage,surgical status at initial diagnosis, bone marrow metastasis status, MYCN amplification, anemia status, NSE level, LDH level, and intracranial metastasis at relapse were adverse prognosis risk for high-risk NB (P<0.05). Cox multivariate analysis showed MYCN amplification, and bone marrow metastases at initial diagnosis were independent prognostic factors for high-risk NB (P=0.017). Conclusion The 3-year OS rate of high-risk NB children was 54.8%, High-risk neuroblastoma has a poor overall prognosis, with recurrence being the main cause of death. MYCN amplification is an independent adverse prognostic factor for high-risk NB.

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.

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.

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.

Infective endocarditis (IE) is an infection originating from the endocardium and/or heart valves. Although the overall incidence of IE in children is relatively low, it carries a high mortality once happened. Timely identification and prompt treatment are crucial to avert adverse clinical outcomes. In recent issue, Prof. Cao et al. reported a case of IE caused by methicillin-resistant Staphylococcus aureus after congenital heart disease operation (J Clin Pediatr Vol.42 No.8 Aug. 2024), which underscored the complexities and challenges involved in diagnosing and managing IE in pediatric patients. Herein, we will further discuss the clinical features, antibiotic options, and optimal timing of surgical intervention for pediatric IE, aiming to enhance clinicians' understanding of this condition.

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 development of pediatric medical devices faces challenges and cannot meet the clinical needs of pediatric patients, however, conducting clinical research on pediatric medical devices is difficult. This article explores the current development status of pediatric medical devices in China and discusses the relevant regulations and guidelines in both China and the United States. It also delves into the considerations for conducting clinical research in the pediatric population, aiming to provide reference for the implementation of related clinical studies.

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.

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

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

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

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

Objective To 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.

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

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

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

Objective To 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.

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 investigate the genetic characteristics of 11 families with congenital adrenal cortex abnormalities. Methods From January 2019 to June 2023, 11 families of patients with congenital adrenal cortex abnormalities diagnosed in the Medical Genetic Center of Gansu Maternity and Child Health Hospital were enrolled. Exome sequencing was used to detect genetic variants in the proband, Sanger sequencing and MLPA were used for verify the variants and their family origin. Results 11 patient families were genetically diagnosed: 8 cases were congenital adrenal hyperplasia due to 21-hydroxylase deficiency caused by CYP21A2 variants, and 1 case was congenital adrenal hyperplasia due to 17-α hydroxylase deficiency caused by CYP17A1 variation Cortical hyperplasia, one case of lipocongenital adrenal hyperplasia caused by STAR variants, and one case of congenital adrenal hypoplasia caused by NR0B1 variants. A total of 7 different variants were detected in the CYP21A2 gene. Among the 7 variants, the site with the highest frequency was c.518T>A, followed by c.293-13C>G and c.1069C>T. The c.780dupG and c.397C>T variants of STAR are novel variants that have not been reported. According to the ACMG Genetic Variation Classification Standards and Guidelines, the c.780dupG was categorized as pathogenic (PVS1+PM2_Supporting+PP4), c.397C>T was categorized as uncertain significance (PM2_Supporting+PM3+PP3+PP4). The variant c.64_c.65insGAGCGCGAAGC of NR0B1 is a novel variant that has not been reported, which is categorized as Likely pathogenic (PVS1+PM2_Supporting+PP4). Conclusion Patients with adrenal cortex anomalies with overlapping clinical phenotypes cannot be reliably identified by symptoms and biochemical markers alone, and early precise genetic diagnosis is essential for diagnosis of the disease, interventional therapy, genetic counseling, and fertility 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.

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 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 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.

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

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.