Spinal muscular atrophy (SMA) is a common fatal and disabling neuromuscular disease in infants and young children, caused by the degeneration of spinal anterior horn motor neurons, leading to progressive muscle weakness and atrophy in the limbs. In recent years, the emergence and application of disease-modifying therapies are gradually changing the natural history of SMA. However, the efficacy of these therapies is closely related to factors such as the age at treatment initiation and the pre-treatment disease course. Pre-symptomatic treatment is more promising to enable the affected children to survive and achieve near-normal motor milestones. This consensus was developed by experts from relevant fields, focusing on the following themes: pre-symptomatic SMA diagnosis, treatment decision-making, follow-up management, and key points for parental communication, with the aim of providing standards and guidance for clinical practices of pre-symptomatic treatment of pediatric SMA.

Nocturnal enuresis is a common disease in childhood, which can be harmful to the children’s physical and psychological well-being. Standardized diagnosis and therapeutic approaches are very important for the efficacy and prognosis of enuresis. In recent years, with the accumulation of domestic and foreign clinical research evidence and the application of new diagnostic and therapeutic concepts, it is of great clinical significance to update and improve the consensus on the diagnosis and treatment of enuresis. Therefore, Chinese Cooperative Group for the Management of Pediatric Enuresis Affiliated to Pediatric Nephrology Committee of Chinese Medical Doctor Association has revised and updated the 2014 version of the "Expert Consensus on the Management of Monosymptomatic Nocturnal Enuresis in Chinese Children" based on the latest domestic and international evidence-based rationales and combined with clinical experience. The definition has been revised in accordance with international authoritative guidelines, and the diagnosis process and standardized terminology has been enhanced. The content of medical history collection has been updated to emphasize the differentiation of other diseases and comorbidities, and the recording method of the voiding diary has been revised to improve compliance. For monosymptomatic enuresis, the dosage adjustment and discontinuation plan of desmopressin have been added, and the specific dosage recommendations for second-line drug treatment have been refined. Additionally, a new section on non-monosymptomatic enuresis has been introduced, including treatment strategies and pharmacologic interventions. This consensus recommendations in a problem-oriented manner, delivering more comprehensive and structured guidance for the management of nocturnal enuresis.

Pertussis is an acute respiratory infectious disease caused by Bordetella pertussis, which has a long history and can affect people of all ages. The re-emergence of pertussis has become a global issue of great concern, including in China. Since 2022, the number of whooping cough cases reported in China has increased rapidly. The genotype of the main antigen (pertussis toxin) of the current Bordetella pertussis epidemic strain has changed, and the corresponding antigen is different from the vaccine strain, resulting in immune escape, which is one of the important reasons for the recurrence of pertussis. At present, the resistance of Bordetella pertussis to macrolide antibiotics is an important reason for clinical treatment failure, so it is no longer recommended as the first choice for anti-infection treatment of pertussis. For children over 2 months of age with no contraindications to sulfanilamide, trimethoprim-sulfamethoxazole oral administration is recommended as the preferred anti-infection regimen for pertussis catarrhal stage and spasmodic cough stage. Piperacillin or cefoperazone-sulbactam are recommended for children under 2 months of age or with critical symptoms. The improvement or development of a new generation of pertussis vaccine with the same antigen as the prevalent strain will be a long-term strategy to enhance the immune protection of the susceptible population and control the epidemic of the disease.

Objective To analyze the epidemiological characteristics of common respiratory tract pathogens in children with acute respiratory tract infections (ARTI) in Hainan Province, and to provide reference for the prevention, diagnosis and treatment of ARTI in children. Methods The children with ARTI who were hospitalized in several hospitals in Hainan Province from March 2012 to December 2021 were selected. The serum IgM antibody levels of influenza virus A (FluA), influenza virus B (FluB), respiratory syncytial virus (RSV), adenovirus (ADV), parainfluenza virus (PIV), Mycoplasma pneumoniae (Mp), Chlamydia pneumoniae (Cp), Legionella pneumophila (Lp) and Q fever Rickettsia (COX) were detected by indirect immunofluorescence method. An infection with a pathogen was characterized as having an IgM antibody positive for it. The epidemiological and clinical data of respiratory tract infection cases were analyzed retrospectively. Results In this study, a total of 59312 children were eligible for inclusion, and the IgM positive detection rate of respiratory pathogens was 37.69% (22357/59312). Among the 22 357 IgM positive children, 28255 IgM positive times were found, of them, 35.23% were IgM positive rate for FluA, FluB, RSV, ADV and PIV (9953/28255). The top 3 pathogens were Mp, FluB and PIV, accounting for 86.54% (24451/28255), and the IgM positive rate was 28.58% (16953/59312), 9.50% (5636/59312) and 3.14% (1862/59312), respectively. Dual pathogens were detected in 4039 cases, and the most common combination was Mp and FluB. The detection rates of FluA, FluB, ADV, Cp and Lp were the highest in spring and the lowest in autumn. The detection rates of PIV, Mp and COX were the highest in summer and the lowest in winter. The detection rate of RSV was the highest in summer and the lowest in autumn. The positive detection rate of respiratory pathogen IgM varied between 2012 and 2021, with the highest being in 2013 (78.65%) and the lowest being in 2021 (15.72%). The differences between the years were statistically significant (P<0.001). Conclusions The prevalence of various respiratory pathogens in Hainan region has its seasonality. The corresponding protective measures can be formulated according to their epidemic characteristics to deal with the respiratory infection during the peak incidence season for children.

Objective To investigate the positive rates of Mycoplasma pneumoniae (MP) and other pathogens in children with acute respiratory infection (ARTI) before, during and after COVID-19 pandemic in Shanghai. Methods The clinical data of children with ARTI who underwent respiratory 5-plex and influenza 3 plex tests in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 1, 2019 to December 30, 2023 were retrospectively analyzed. Results A total of 91825 ARTI cases were included, including 48729 male cases and 43096 female cases, and the median age was 5 (3-8) years old. Before the epidemic, there were 14096 cases, with 5126 positive cases of respiratory pathogens (36.4%); during the epidemic, there were 13366 cases, with 2963 positive cases (22.2%); and after the epidemic, there were 64363 cases, with 33510 positive cases (52.1%). There were significant differences in male proportion, age distribution, and positive rates of various pathogens among the pre-epidemic, epidemic, and post-epidemic groups of ARTI patients (P<0.05). The proportion of children>6 years old was higher in the pre-epidemic and post-epidemic groups, while the proportion of 0-3 years old was higher in the epidemic group (P<0.014). The positive rates of MP in various years and months between 2019 and 2023 showed statistical significance (P<0.05). The positive rate of MP was higher in January, February, and December 2019 (20.3%-37.7%), as well as in January to March 2020 (21.5%-35.3%). In 2021, only the positive rate of MP in December (25.8%) exceeded 20.0%, while all rates in 2022 were below this threshold. From April to June and August to December 2023, the positive rate ranged from 21.5% to 37.2%. The number of MP-positive cases was 23247, and there were statistically significant differences in gender and age distribution among the groups before, during, and after the epidemic (P<0.05). The proportion of MP-positive children>6 years old was higher in the pre- and post-epidemic groups, and the proportion of 0-3 years old in the epidemic group was higher (P<0.014). Conclusions During the period from 2019 to 2023, there have been certain alterations in the epidemiological characteristics of various pathogens associated with ARTI, particularly MP. Moreover, significant changes have occurred in both age distribution and seasonal epidemiological patterns of MP.

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 investigate the clinical features and long-term prognosis of systemic juvenile idiopathic arthritis (sJIA) complicated with macrophage activation syndrome (MAS). Methods The clinical data of sJIA children complicated with MAS treated from August 2014 to August 2020 were retrospectively analyzed. The sJIA children without MAS diagnosed and treated in the same period were classified as sJIA without MAS group. The clinical manifestations and long-term prognosis were compared between the two groups. Results The median onset age of the 25 patients (11 boys and 14 girls) in sJIA with MAS group was 5.8 (2.6-10.0) years. The median onset age of 38 patients (18 boys and 20 girls) in sJIA without MAS group was 7.0 (5.1-9.0) years. Twenty-one patients had MAS in the early stage of sJIA. Compared with the sJIA without MAS group, the incidence of hepatosplenomegaly, respiratory system involvement, central nervous system involvement and bleeding in the sJIA with MAS group was higher, and the difference was statistically significant (P<0.05). Methemoglobinemia was the most common abnormal laboratory index in sJIA patients with MAS (100%), followed by elevated aspartate aminotransferase (24 cases) and decreased fibrinogen (23 cases). All patients were treated with glucocorticoids, 22 with intravenous immunoglobulin and 22 with cyclosporin A. Tocilizumab was added to 11 patients, 4 of them were treated with tocilizumab within 2 to 3 weeks of MAS activity, and 7 were treated with tocilizumab when sJIA was still in an unstable state after MAS remission. The median follow-up time was 40.0 (26.5-60.5) months. The results of follow-up to August 31, 2022 showed that there were 11 cases of monophasic course, 5 cases of recurrent course, and 9 cases of persistent course in the sJIA with MAS group, and there was no statistically significant difference in long-term prognosis compared with the sJIA without MAS group (P>0.05). Growth retardation occurred in 4 sJIA children with MAS who received glucocorticoid therapy for a long duration. Hormonal cataract occurred in 3 sJIA children with MAS. Conclusions For sJIA children complicated with MAS, if early identification, effective treatment and standardized management can be given in time, the long-term prognosis is similar to that of children without MAS.

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.

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.

Objective To investigate the safety and efficacy of umbilical cord blood transplantation (UCBT) in the treatment of metachromatic leukodystrophy (MLD). Methods The clinical data of 3 MLD children treated with unrelated UCBT from April to September 2019 were retrospectively analyzed. Results All the 3 children showed walking disorder, progressive motor function regression, and 2 of them showed mental retardation. Lysosomal arylsulfatase A (ARSA) decreased in all of them. Head MRI of all the 3 children showed abnormal signals of different degrees in the white matter of the brain and they all had compound heterozygous mutations of ARSA gene. All the 3 children were treated with unrelated UCBT, and the pre-treatment regimen was fludarabine + cyclophosphamide + rabbit anti-human thymocyte immunoglobulin + busulfan, and the prevention of graft-versus-host disease (GVHD) was treated with cyclosporine + mycophenolate mofetil + methotrexate. All the 3 children were successfully implanted, and the whole blood of all children reached complete donor chimerism within 1 month after transplantation. Head MRI showed that the progression of brain parenchymal lesions gradually stopped, and ARSA levels gradually returned to normal. All 3 patients developed infection, 2 developed acute GVHD and 1 developed chronic GVHD. After anti-infection and regulatory immunotherapy, they all improved. The last follow-up was in August 2022, and all 3 patients survived. Long-term efficacy and neurological recovery still require long-term follow-up.Conclusion UCBT is a safe and effective treatment to prevent the progression of MLD.

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.

Faltering growth is an important clinical signs for early identification of nutritional problems, and early identification and intervention of faltering growth in infants and young children is of great significance for improving their short-term and long-term health outcomes. Previous published guidelines and expert consensus lack a unified definition of faltering growth, which affects clinical identification, evaluation and standardized management. In March 2023, the Journal of Pediatric Gastroenterology and Nutrition published an article titled 'Catch-up growth in infants and young children with faltering growth: expert opinion to guide general clinicians'. It not only expounds the importance of catch-up growth, but also formulates practical consensus recommendations on how to properly define, evaluate and manage faltering growth, which has practical guiding value for clinicians. Based on the current situation of clinical practice in China, this paper interprets the recommendations in order to provide guidance and reference for clinicians to manage infants and young children with faltering growth in China.

Objective To study the clinical features and prognosis of adenovirus pneumonia complicated with plastic bronchitis in children. Methods The clinical data and follow-up results of 11 children with adenovirus pneumonia complicated with plastic bronchitis diagnosed in hospital from January 2018 to December 2022 were retrospectively analyzed. Results The median age of the 11 patients (7 boys and 4 girls) was 6.0 years old. All of them had fever and cough, 3 children were accompanied by wheezing, 6 had shortness of breath, and 7 had decreased breathing sounds. The mean duration of fever was (7.55±3.59) days, the mean peak of temperature was (39.95±0.79) ℃. There were 7 children with toxic encephalopathy and 8 with liver function impairment. The LDH, IL-6 and PCT levels were increased to different degrees in all patients, and CRP>30mg/L was found in 7 patients. Chest CT+3D reconstruction showed that lung consolidation was the main lesion, including atelectasis in 6 cases and pleural effusion in 4 cases. Six patients were administered with intravenous immunoglobulin, and 9 patients received methylprednisolone. Five patients received facial mask oxygen inhalation. One child received mechanical ventilation, and then changed to V-V-ECMO. All children underwent bronchoscopy and plastic body removal. Among them, 7 patients received bronchoscopy once and 4 received bronchoscopy twice. One child died and the others were discharged after improvement. During follow-up, 1 child had recurrent cough and wheezing, and the others had good prognosis. Conclusions Adenovirus pneumonia with plastic bronchitis is usually characterized by persistent high fever, shortness of breath, hypoxia, reduced breath sound, and significantly increased levels of CRP, PCT and LDH. Most of the imaging findings show atelectasis and lung consolidation, which are easy to combine with other organ injuries. Active anti-inflammatory therapy and bronchoscopy should be performed as soon as possible. Most of patients have a well prognosis, while a few may have poor prognosis such as recurrent cough and wheezing.

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

Objective To investigate the correlation between functional constipation (FC) and the formation of fecaliths in the appendix cavity in children with acute appendicitis (AA). Methods The clinical data of children diagnosed with AA from August 2022 to June 2023 were retrospectively analyzed. According to the presence or absence of fecaliths in the appendix cavity, the patients were divided into the AA group with fecaliths and the AA group without fecaliths. The clinical characteristics of FC between the two groups were compared, and the factors affecting the formation of fecaliths in the appendix cavity of children with AA were analyzed. Results A total of 192 children (114 boys and 78 girls) with AA were included and the median age was 6.0 (4.0-9.0) years old. There were 72 children in the AA group with fecaliths and 120 in the AA group without fecaliths. Compared with the AA group without fecaliths, the AA group with fecaliths had a higher incidence of fecal retention (≥ 4 years old), higher prevalence of FC, longer average constipation time, and higher incidence of dietary bias, and the difference was statistically significant (P<0.05). Binary logistic regression analysis showed that prolonged constipation duration and dietary bias were independent risk factors for the formation of fecaliths in the appendix cavity of children with AA (P<0.05). Conclusions Long-term constipation and dietary bias have a certain correlation with fecaliths formation in the appendix cavity of children with AA.

Objective To analyze the clinical characteristics and genetic variations in 8 children with metachromatic leukodystrophy (MLD), and to explore the correlation between genotype and clinical phenotype as well as the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The study collected data from children diagnosed between 2013 and 2024, confirmed through whole exome sequencing, and found that all children had symptoms such as developmental delay, with ages at diagnosis ranging from 1 year and 3 months to 9 years and 6 months. Results Based on the age of onset and clinical manifestations, 4 cases were late infantile type, with 2 deaths; 4 cases were juvenile type, with a survival rate of 100%. Genetic sequencing revealed compound heterozygous variations in the ARSA gene, a total of 15 mutations, of which 3 were newly reported and all were deleterious variations. Three children received allo-HSCT treatment and all survived but with progression of symptoms. Conclusion MLD mainly manifests as central nervous system damage, and diagnosis should be confirmed in combination with clinical manifestations, ARSA enzyme activity, and genetic testing. Early diagnosis and treatment are crucial for improving prognosis, and allo-HSCT can increase survival rates, but the therapeutic effect is limited.

Objective 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.

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.

Febrile infection-related epilepsy syndrome (FIRES) is a rare and catastrophic epileptic encephalopathy that predominantly affects school-aged children.Characterized by a biphasic clinical course, FIRES manifests as rapid progression to refractory status epilepticus following a preceding febrile infection. The prognosis of FIRES is dismal: the acute-phase mortality rate is approximately 10%, and survivors often develop chronic refractory epilepsy and cognitive impairment. The pathogenesis of FIRES remains unclear, but neuroinflammation involving cytokines such as IL-6 may play a key role. Tocilizumab, a humanized monoclonal antibody targeting the IL-6 receptor, exerts anti-inflammatory effects by blocking IL-6 signaling. For FIRES patients unresponsive to conventional anti-seizure medications (ASMs), first-line immunotherapies, or ketogenic diet, tocilizumab is currently recommended as a second-line immunotherapeutic option. This review summarizes the background, mechanisms, clinical applications, safety profile, and challenges associated with tocilizumab in FIRES management, aiming to update clinicians on the latest advances in this field..

Objective Meta-analysis was used to evaluate clinical efficacy in children with spinal muscular atrophy treated with nusinersen. Methods Cochrane Library, Embase, PubMed, Web of Science, ClinicalTrial.gov, CBM, CNKI, Wanfang and VIP databases were searched from inception to December 31, 2022. Stata 14.0 was used for meta-analysis after two researchers independently screened the literature, extracted data, and evaluated the risk of bias in the included studies. Results A total of 14 cohort studies were included, involving 1274 SMA patients <18 years of age. During therapy, motor function indicators showed significant improvement in the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Hammersmith Infant Neurological Examination Part 2 (HINE-2) score, Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM) score, and combined mean differences were 9.08(95%CI: 7.17-10.99), 2.08(95%CI: 1.26-2.90), 3.83(95%CI: 2.15-5.50) and 2.42(95%CI: 1.33-3.52), respectively. The clinical improvement rates were 0.77(95%CI: 0.71-0.82), 0.39(95%CI: 0.31-0.48), 0.53(95%CI: 0.33-0.72), and 0.56(95%CI: 0.49-0.63), respectively. Conclusions The motor function of children with SMA type 1, 2, and 3 was significantly improved by nusinersen. Limited by the quality and sample size of the included studies, the above conclusions need to be verified by more high-quality studies.

Objective To investigate the clinical efficacy of disease-modifying therapies (DMTs) in spinal muscular atrophy (SMA) patients with SMN1 gene compound heterozygous variants. Methods A retrospective analysis was performed on two cases with SMN1 compound heterozygous SMA, including clinical data, treatment approaches, and prognosis. Clinical findings were contextualized through a systematic literature review of analogous cases. Results Two SMA type I patients exhibited SMN1 compound heterozygous: a 4-year-old male (Patient 1) with exon 7 heterozygous deletion and c.188C>A variation, and a 1.7-year-old female (Patient 2) with exon 7 heterozygous deletion and c.683T>A variation. Patient 1 initiated rehabilitation at 7 months of age, received nusinersen treatment at 1 year and 6 months, added risdiplam as combination therapy at 3 years, and discontinued rehabilitation at 3 years and 10 months. Following DMTs, the patient showed slow progress in motor function, acquiring the ability to roll over to the side and sit with support, and is currently able to sit with assistance. Patient 2 started rehabilitation at 4 months of age, received risdiplam at 7 months, and switched to nusinersen treatment at 1 year and 5 months due to persistent darkening of skin color. The combination of DMTs and rehabilitation resulted in significant improvement in the patient's motor function, achieving milestones such as sitting independently and standing with support. Currently, she can stand independently for 7-8 seconds and take steps. Conclusion DMTs can improve the overall prognosis of children with compound heterozygous SMA and enhance their motor function.

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

Objective To summarize the epidemiological characteristics and drug resistance rate of Mycoplasma pneumoniae (MP) infection in hospitalized children from April to October 2023, and analyze the clinical and therapeutic characteristics of MPP children during this period. Methods Throat swab samples of children with community-acquired pneumonia were collected on the day of hospitalization. The tNGS pathogen and MP macrolide-resistance gene mutation were detected, and MP positive rate and MP macrolide-resistance rate were analyzed. Patients with MPP were grouped by the admission date into non-epidemic group (June) and epidemic group (September), and further divided into resistant group and sensitive group in accordance to whether the macrolide-resistance genes were positive or not. The clinical features of the children were compared among the groups. The treatment differences were discussed comparatively between the non-epidemic resistant group and the epidemic resistant group. Results The median age of 1425 children (686 boys and 739 girls) with community-acquired pneumonia was 6 (3-8) years, and the MP positive rate was 57.1% (813 cases). The positive rate of MP varied significantly from April to October for each month (P<0.001), and MP positive rate increased month by month (12.5%-71.6%). Among 813 hospitalized children with MPP, 627 were positive for macrolide-resistance gene mutation, and the total drug resistance rate of MP was 77.1%. The drug resistance rate of MP was 93.9% in the period of non-epidemic (April to June), and significantly decreased to 71.9% in the epidemic period (August to October). The drug resistance rate of MP varied significantly from April to October for each month (P<0.001). There were 76 children in the non-epidemic group and 189 in the epidemic group. Compared with the non-epidemic group, the length of hospital stay were longer and the levels of CRP and LDH were higher in the epidemic group, with statistical significance (P<0.05). There were 64 children in the sensitive group and 201 in the resistant group. Compared with the sensitive group, the hospital stay was longer and the LDH level was higher in the resistant group, and the difference was statistically significant (P<0.05). Of the 201 children with macrolide-resistant MPP, 71 were in the non-epidemic resistant group and 130 were in the epidemic resistant group. Compared with the non-epidemic resistant group, the time to defervescence after methylprednisolone was longer and the use rate of tetracycline antibiotics was higher in the epidemic resistant group, and the difference was statistically significant (P<0.05). Conclusions The epidemic period of MP is from August to October 2023. Compared with normal days, the infection rate of MP is higher during the epidemic period, but the macrolide-resistant rate of MP in hospitalized children is lower. MPP during this epidemic period triggered stronger immune response, displayed as longer hospital stay and higher inflammatory factor level. The possibility of a new prevalent strain should be considered. This prevalent strain was less sensitive to combine treatment of macrolide plus corticosteroids, and tetracycline drugs are needed to control infection.

Objective To compare the differences of clinical features between severe Mycoplasma pneumoniae pneumonia (MPP) and severe Streptococcus pneumoniae pneumonia (SPP). Methods Seventy-seven patients with severe MPP and 40 patients with severe SPP admitted to the respiratory ward of Children's Hospital Affiliated to Chongqing Medical University from January 2015 to January 2020 were retrospectively analyzed, and the general conditions, clinical manifestations, auxiliary examinations and other data of the two groups were compared. Results There were 48 boys (62.3%) in the severe MPP group with a median age of 44(24-78) months. In the severe SPP group, there were 22 boys (55.0%) with a median age of 14(9-25) months. 96.1% (74/77) of children with severe MPP and 80.0% (32/40) of children with severe SPP received antibiotics before admission (P=0.007). Compared with children with severe SPP, the proportion of fever and hyperpyrexia was higher, and the proportion of wheezing and nervous system symptoms was lower in children with severe MPP (P<0.05). The children with severe SPP were more likely to have crackles and rhonchi in the lungs, and the proportion of children with signs on both sides was higher (P<0.05). Compared with children with severe SPP, children with severe MPP had lower WBC and higher LDH levels, and were more likely to have aerated bronchus signs on chest CT (all P<0.05). There was no significant difference in bronchoscopy and routine examination results of bronchoalveolar lavage fluid between the two groups (all P>0.05). Conclusions The clinical characteristics of children with severe MPP and severe SPP are often atypical. Age, fever, hyperpyrexia, wheezing, pulmonary signs, nervous system manifestations, peripheral WBC, and peripheral blood LDH levels are helpful for clinical differentiation.

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 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 investigate the types, clinical and imaging features and prognosis of chemotherapy-related cerebral lesion in acute lymphoblastic leukemia (ALL), so as to improve the clinicians' understanding of this kind of brain injury. Methods The clinical data of children with ALL who developed chemotherapy-related cerebral lesion after receiving chemotherapy alone from June 2015 to June 2023 were retrospectively analyzed. Results A total of 46 children (24 boys and 22 girls) with chemotherapy-related cerebral lesion were enrolled. The median onset age of ALL was 5.6(3.7-10.2) years old. The median age of children with cerebral lesion treated by chemotherapy was 6.6(4.7-10.3) years old. First cerebral lesion occurred 2.0(1.0-8.0) months after the first systemic chemotherapy, including 34 cases (73.9%) of encephalopathy, 9 cases (19.6%) of neurovascular complications, and 3 cases (6.5%) of isolated neurological symptoms. Neurological symptoms occurred in 38 children. Seizures were the most common (26 cases), followed by dizziness or headache, paralysis, visual disturbance, etc. The lesions in children with encephalopathy were mainly distributed around the lateral ventricles, semi-oval center, the parietal lobe, the occipital lobe, and the frontal lobe. The main neurovascular complications were intracranial hemorrhage and cerebral thrombosis, among which the superior sagittal sinus was the most common site of venous thrombosis.Among 38 patients with obvious neurological symptoms, 30 patients showed rapid improvement in clinical manifestations and had a good prognosis. At the follow-up of 22 months, 29 of the 32 children with neuroimaging abnormalities showed improvement after review. Conclusions The clinical and neuroimaging manifestations of ALL with chemotherapy-related cerebral lesion were diverse, and the overall prognosis was good. Few children had symptomatic epilepsy sequelae. Early neuroimaging is helpful for early detection and intervention of cerebral lesion and better optimization of ALL treatment.

Objective To explore the clinical features and risk factors of macrolide-resistant severe Mycoplasma pneumoniae pneumonia (SMPP) in children. Methods The clinical data of children with macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) who were hospitalized in the Department of Pediatric Respiratory Medicine from March to September 2023 were retrospectively analyzed. According to the severity of the disease, the patients were divided into macrolide-resistant severe group and macrolide-resistant non-severe group. The clinical characteristics of the two groups were compared, and the risk factors affecting SMPP were analyzed. Results A total of 224 children with macrolide resistant MPP were included, including 132 in the severe group (65 boys and 67 girls), with a median age of 7.0 (5.0-9.0) years. There were 92 patients in the macrolide-resistant non-severe group, 46 boys and 46 girls, with a median age of 7.0 (5.0-9.0) years. The results of binary logistic regression analysis showed that prolonged fever time, increased D-dimer level and lung consolidation were independent risk factors for predicting the occurrence of macrolide-resistant SMPP (P<0.05), while higher lactate dehydrogenase and IgE levels may be correlated with the occurrence of macrolide-resistant SMPP (P<0.05). ROC curve analysis showed that the duration of fever, lactate dehydrogenase and D-dimer had moderate diagnostic value in predicting the occurrence of macrolide-resistant SMPP (AUC>0.8, P<0.05). All patients with macrolide-resistant Mycoplasma pneumoniae pneumonia were cured and discharged after treatment. The length of hospital stay in the macrolide-resistant severe group was 7.0 (6.0-9.0) days, significantly longer than that in macrolide-resistant non-severe group [6.0 (5.0-7.0) days] (P<0.01). The hospitalization cost in the macrolide-resistant severe group was 12283 (10836-15012) yuan, which was significantly higher than that in the macrolide-resistant non-severe group [9769 (8756-11642) yuan], and the differences were statistically significant (P<0.01). Conclusions Children with macrolide-resistant SMPP experienced more prolonged fevers and hospital stays, markedly elevated inflammatory markers, and severe alterations in lung imaging, all of which raised the financial strain on their families.

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

Objective To analyze the clinical characteristics of pertussis in children and explore the independent risk factors for pertussis complicated by ordinary pneumonia and severe pneumonia. Methods A retrospective cohort study was conducted on the clinical data of 708 children hospitalized with pertussis in our hospital from August 2021 to June 2024. Patients were divided into three groups: pertussis without pneumonia (n=306), pertussis with ordinary pneumonia (n=316), and pertussis with severe pneumonia (n=86). Baseline clinical characteristics and laboratory indicators upon admission were compared. Multinomial logistic regression analysis (with the non-pneumonia group as the reference) was used to identify independent factors associated with ordinary and severe pneumonia. Results Among the 708 children, 400 were male (56.5%) and 308 were female (43.5%), with a median age of 4 months (1 month - 4 years), infants≤3 months accounted for 46.3%. The co-infection rate was 68.50%, with rhinovirus being the most common. Significant differences were found among the three groups in age, fever, underlying diseases, DTP vaccination status, WBC count, LYM% and Bordetella pertussis cycle threshold (BP-C_t) values (P<0.05). Post-hoc comparisons showed significant differences in these indicators for the severe pneumonia group compared to the other two groups, whereas no significant differences were observed between the ordinary pneumonia and non-pneumonia groups. Multinomial logistic regression analysis showed no statistically significant independent predictors for distinguishing ordinary pneumonia from non-pneumonia (P>0.05). However, for severe pneumonia, fever (OR=10.601, 95%CI: 5.235-21.466), underlying diseases (OR=5.576, 95%CI: 2.651-11.726), low BP-C_t value (high bacterial load) (OR=5.174, 95%CI: 1.911-14.005), and WBC>30×10⁹/L (OR=3.371, 95%CI: 1.520-7.474) were identified as independent risk factors. Conclusion Pneumonia is a common complication in hospitalized children with pertussis. While ordinary pneumonia is clinically difficult to distinguish from uncomplicated pertussis in the early stages, fever, underlying diseases, high bacterial load (low BP-C_t), and hyperleukocytosis serve as early warning indicators for the progression to severe pneumonia.

Objective To analyze the genetic polymorphism of antigenic genes and antimicrobial resistance phenotypes of Bordetella pertussis (BP) in Fuzhou and Youxi, Fujian Province, China, and to provide scientific evidence for optimizing vaccination strategies and antibiotic use. Methods A total of 336 nasopharyngeal swab specimens from suspected pertussis cases were collected from both regions in 2024. Bacterial culture, isolation, and identification were performed. Polymorphism and mutations were determined by analyzing seven antigenic genes (ptxP, ptxA, ptxC, prn, fim3, fim2, tcfA) and the 23S rRNA A2047 locus. A maximum-likelihood phylogenetic tree was constructed based on core-genome single nucleotide polymorphisms (cgSNPs). The minimum inhibitory concentrations (MICs) of macrolides, sulfonamides, and β-lactams were determined using the E-test method. Results Twenty-nine BP clinical isolates were successfully obtained (8.6%, 29/336). Antigenic gene profiling revealed that the predominant genotype was ptxP3/prn2/ptxC1/ptxA1/fim2-1/fim3-1/tcfA2 (55.2%, 16/29), with ptxP3/prn2/ptxA1 strains accounting for 72.4% (21/29). Four prn150 mutant strains were identified (13.8%, 4/29). Phylogenetic analysis demonstrated that the vaccine strain CS formed an independent evolutionary branch (Cluster A). The 2024 Fujian isolates exhibited significant genetic divergence from pre-2020 domestic strains, forming two major clusters: Cluster B (ptxP3/prn2/ptxA1, containing most Fujian isolates) and Cluster C (ptxP1/prn1/ptxA1, comprising historical isolates). The 23S rRNA A2047G mutation conferring macrolide resistance was detected in all isolates, with MICs > 90 mg/L. MICs for TMP-SMX ranged from 0.005 to 0.45 mg/L. MICs for β-lactams (ceftriaxone, cefotaxime, cefoperazone/sulbactam) ranged from 0.004 to 0.64 mg/L. Conclusion The epidemic strains of BP circulating in Fujian exhibit distinct antigenic gene evolutionary patterns and widespread macrolide resistance. These findings highlight the urgent need to strengthen molecular genotyping-based surveillance of vaccine components and optimize antimicrobial therapy based on susceptibility profiles.

Objective To investigate the clinical characteristics and prognostic factors of children with relapsed acute lymphoblastic leukemia (ALL). Methods A total of 458 newly diagnosed ALL children who treated with the Chinese Children's Leukemia Group (CCLG) protocol at hospital between February 2006 and December 2019 were selected. Results The overall relapse rate of childhod ALL in this center was 16.6% (76/458). The mortality rate among relapsed ALL children was 57.9% (44/76), and the 5-year overall survival (OS) rate for relapsed ALL children was 38.6% ± 5.9%. Grouped by time to relapse, the cohort included 26 cases of very early relapse, 30 cases of early relapse, and 20 cases of late relapse. There was a statistically significant difference in the 5-year overall survival rate (OS) among the three groups(P<0.001). When categorized by relapse site, 57 cases involved isolated bone marrow relapse, 12 cases had extramedullary relapse, and 7 cases exhibited combined medullary/extramedullary relapse. There was a statistically significant difference in the 5-year OS rate among the three groups (P<0.05). Among the 76 relapsed children, 11 discontinued treatment, while 65 received retreatment. Among them, 14 failed to achieve a second complete remission (CR2), whereas 51 attained CR2. There was a statistically significant difference in the 5-year OS rate between the two groups (P<0.001). Based on post-relapse treatment modalities,the patients were divided into allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group (22 cases, 33.8%), chimeric antigen receptor T-cell immunotherapy (CART) group (8 cases, 12.3%), CAR-T combined with Allo-HSCT group (14 cases, 21.5%), and chemotherapy and/or targeted therapy group (21 cases, 32.2%). There was a statistically significant difference in the 5-year OS rate among the groups (P<0.001). Univariate prognostic analysis revealed that initial white blood cell count>100×10⁹/L, initial risk stratification, relapse time, relapse site, post-relapse risk stratification, post-relapse treatment modality, and failure to achieve CR2 were independent risk factors affecting the prognosis of relapsed ALL children (P<0.05). Multivariate analysis using the Cox regression model identified very early relapse and failure to attain CR2 after relapse as independent risk factors for poor prognosis in relapsed ALL children (P<0.05), while post-relapse treatment with CAR-T bridging to allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was a protective prognostic factor. Conclusions The predominant relapse pattern in our center was early recurrence, with bone marrow being the main relapse site. Multivariate analysis revealed that very early relapse and failure to achieve CR2 were independent adverse prognostic factors (P<0.05). CART combined with Allo-HSCT significantly improved outcomes in children with relapsed ALL.

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

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

Objective To explore the eradication effect and influencing factors of triple therapy of Helicobacter pylori (H.pylori) in children from Chongqing. Methods Gastric mucosa samples were collected from 156 children with suspected H.pylori infection who visited the gastroenterology clinic. H.pylori culture, drug susceptibility test and gene detection were performed. Children diagnosed with H.pylori infection received triple therapy eradication. The eradication rate of triple therapy was calculated and the influencing factors of efficacy were analyzed. Results Among 156 children with suspected H.pylori infection, 138 met the diagnostic criteria for H.pylori infection. Among them, 109 children (53 boys and 56 girls) were treated with standard triple therapy (omeprazole + amoxicillin + clarithromycin) for 14 days, with an average age of (9.6±3.0) years, and 64 (58.7%) were successfully eradicated from H.pylori infection. The eradication rate of clarithromycin sensitive strain was 81.6% (40/49), which was significantly higher than that of drug-resistant strain (34.8%, 16/46), the difference was statistically significant (P<0.01). Of the 95 children, 87 underwent genetic testing. The eradication rate of clarithromycin sensitive strains was 76.2% (32/42), which was significantly higher than that of drug-resistant strains (42.2%, 19/45), and the difference was statistically significant (P<0.01). Gender, age, endoscopic diagnosis, histopathological appearance of mucosal tissue based on severity of inflammation, CYP2C19 gene polymorphism, vacA and cagA virulence genes were not correlated with the eradication rate of standard triple regimen (P>0.05). Conclusions Standard triple therapy is not suitable for the eradication of H.pylori in children in Chongqing area, and individualized treatment based on drug sensitivity test is a better choice.

Objective To investigate the clinical features, diagnosis, treatment, and prognosis of the rare complication of infectious endocarditis (IE) in children with Mycoplasma pneumoniae pneumonia (MPP), aiming to enhance clinicians' understanding and facilitate early diagnosis of this condition. Methods A retrospective analysis was conducted on the clinical data of 5 children with MPP complicated by IE admitted to our hospital from January 2023 to November 2024. The analysis included clinical manifestations, laboratory tests, imaging findings, etiological test results, treatment, and follow-up information. Results The median age of onset was 9 years (5-9.5) years, with a male-to-female ratio of 3:2. All patients presented with fever and cough; only one exhibited concomitant subxiphoid pain. Median duration of fever was 12 (9.5-15) days, and vegetations were detected on echocardiography at a median of 10 (8-12) days after disease onset. Elevated D-dimer levels 5.09 (4.35-7.9) μg/mL and fibrin degradation products 10.56 (7.2-24.71) mg/L indicated marked hypercoagulability, while increased IL-6 55.45 (33.02-95.56) pg/mL and lactate dehydrogenase 746 (568.45-838.9) U/L suggested significant systemic inflammation and tissue injury. All children tested positive for MP nucleic acid in respiratory specimens; however, only one had MP DNA detected in blood via metagenomic next-generation sequencing (mNGS). All underwent surgical excision of vegetations, with histopathological examination confirming the diagnosis of IE. Postoperatively, all received antimicrobial therapy and anticoagulation. Among them, three patients with confirmed pulmonary embolism continued long-term anticoagulation for 1-6 months post-discharge. Follow-up echocardiography revealed no vegetation recurrence, and no patient reported symptoms such as dyspnea, chest pain, or wheezing during the monitoring period. Conclusion MPP-related IE presents with nonspecific and often insidious early manifestations, posing challenges for timely diagnosis. In pediatric patients with MPP and evidence of hypercoagulability, routine echocardiographic screening is strongly recommended to enable early detection of IE and prevent diagnostic delays. With prompt diagnosis and comprehensive management, the prognosis is favorable.

Objective To evaluate left ventricular function and ventricular wall motion disorder by two-dimensional speckle tracking echocardiography (2D-STE) in children with influenza A-related myocarditis. Methods Thirty children with influenza A-related myocarditis were selected as the case group, and 33 children who came in for routine check-ups were used as the normal control group. Routine ultrasonography was performed on both groups, and two-dimensional speckle tracking technology was used to evaluate cardiac function and global longitudinal strain of the left ventricle. Comparative analysis was conducted between the two groups. Results There was no significant difference in age, body surface area, end-diastolic left ventricular diameter (LVIDd), diastolic interventricular septal thickness (IVSd), early diastolic and late diastolic mitral flow velocity ratio (E/A) and CK-MB between the case group and the normal control group (P>0.05). Compared with the normal control group, the heart rate and hsTnI level were higher, and the left ventricular ejection fraction (LVEF), ratio of early diastolic mitral annulus velocity (E/E') and left ventricular global systolic strain peak (GLPS) were lower in the case group, and the differences were statistically significant (P<0.05). GLPS was positively correlated with LVEF and negatively correlated with IVSd, but not significantly correlated with LVIDd, E/A, E/E’, hsTnI, CK-MB and electrocardiographic parameters. The optimal cutoff value of GLPS for the diagnosis of influenza A-related myocarditis in children was -19.9 %. Conclusions Left ventricular long-axis strain of 2D-STE can accurately reflect the changes of left ventricular myocardial mechanical properties in children with myocarditis caused by influenza A virus infection. It can be used as a simple, safe, reliable and practical new means for early diagnosis, follow-up and prognosis evaluation of influenza A-related myocarditis.

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

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

Objective 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.

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

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.

Objective To explore the efficacy and safety of CD19 chimeric antigen receptor T cells (CAR-T) in the treatment of refractory/relapsed B-cell acute lymphoblastic leukemia (B-ALL) in children and adolescents. Methods The clinical data of refractory/relapsed B-ALL patients<25 years old who received CD19 CAR-T therapy from June 2017 to March 2021 were retrospectively analyzed and the efficacy and safety of this therapy was evaluated. Results A total of 64 patients (35 boys and 29 girls) with refractory/relapsed B-ALL were included, and the median age was 8.5 (1.0-17.0) years old. One month following CD19 CAR-T infusion, a short-term effectiveness assessment of all 64 patients showed minimal residual disease (MRD) negative in 62 of them, and complete remission (CR) or complete remission with incomplete hematologic recovery (CRi) in all 64 patients. The incidence rates of cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) were 78.1 % and 23.4 %, respectively. Twenty-two patients experienced recurrence after infusion, with a median recurrence time of 10.1 months. The 4-year overall survival (OS) rate was 66.0 %±6.0 %, and the 4-year leukemia free survival (LFS) rate was 63.0 %±6.0 %. Long-term follow-up results demonstrated superior LFS and OS in patients bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT) compared to those who were not bridged to transplantation (4-year LFS: 81.8 %±6.2 % vs. 24.0 %±9.8 %, 4-year OS: 81.4 %±5.9 % vs. 44.4 %±11.2 %; both P<0.01). Conclusions CD19 CAR-T therapy can effectively treat refractory/relapsed B-ALL, and bridging to HSCT after infusion can further improve the long-term survival outcomes in patients.

Objective To characterize the clinical features and independent risk factors for plastic bronchitis (PB) in children with pneumonia, and to develop and validate a clinically applicable nomogram for early risk stratification. Methods A retrospective analysis was conducted on the data of children hospitalized from January 2018 to January 2025, who were diagnosed with pneumonia and underwent bronchoscopy. Stratified sampling was used to divide the data into a training set and a test set at a ratio of 7∶3, ensuring that the PB incidence rate in both sets was approximately 7.0%. After collinearity analysis, variables were selected using LASSO combined with logistic regression, and then included in weighted logistic regression to establish a prediction model. A nomogram was constructed, and the model was validated through receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA) curves. Results Among 2697 eligible children, 190 (7.0%) developed PB. Bootstrap aralysis of the weighted cogistic regression model identified nine independent predictors: asthma history (OR=1.67, 95% CI: 1.24-2.15, P<0.001), tachypnea (OR=2.01, 95% CI: 1.54-2.64, P<0.001), fever duration (OR=4.00, 95% CI: 3.24-5.83, P<0.001), pleural effusion (OR=1.53, 95% CI: 1.19-1.94, P<0.001), airway obstruction on CT reconstruction (OR=2.42, 95% CI: 1.77-3.87, P<0.001), neutrophil-to-lymphocyte ratio (NLR) (OR=1.63, 95% CI: 1.28-2.25, P<0.001), platelet count (OR=0.54, 95% CI: 0.33-0.72, P<0.001), fibrinogen (OR=1.48, 95% CI: 1.12-2.08, P=0.004), and D-dimer (OR=1.46, 95% CI: 1.20-1.80, P=0.006). The nomogram demonstrated good predictive performance in the test set with an AUC of =0.921,（95% CI: 0.88-0.96; P<0.05). Conclusion PB is a rare but severe complication of pediatric pneumonia, associated with distinct and quantifiable clinical and laboratory features. The validated nomogram provides a practical, interpretable, and statistically robust tool for early identification of high-risk children—enabling timely bronchoscopic evaluation and intervention.

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.

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.

A male infant, aged 1 month and 24 days, was diagnosed with immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Whole-exome gene sequencing revealed compound heterozygous mutations of LRBA, confirming a diagnosis of LRBA deficiency with an ALPS-like phenotype. Despite treatments with corticosteroids, neonatal-like exchange transfusions, rituximab, and sirolimus, the ALPS-like symptoms persisted and were complicated by pulmonary infection and cytomegalovirus viremia. At 3 months of age, the patient underwent haploidentical hematopoietic stem cell transplantation (HSCT) using bone marrow from his father. Post-transplantation, successful engraftment of platelets and granulocytes was achieved, infections were controlled, and no severe complications occurred. Three months after transplantation, the infant developed grade Ⅱ skin graft-versus-host disease (GVHD), which resolved completely following treatment. Currently, more than 8 months after transplantation, the patient remains healthy with normalized immune function and no recurrence of the ALPS-like phenotype. This article retrospectively analyzed a case of a young patient with LRBA deficiency and an ALPS-like phenotype, evaluating the efficacy and safety of HSCT using bone marrow-derived hematopoietic stem cells from a haploidentical father. The study indicates that for children unresponsive to first-line treatments, HSCT should be considered as early as possible. In the absence of a fully matched donor, haploidentical donors and bone marrow-derived stem cells represent viable options that may enhance engraftment, reduce GVHD and infection risks, and improve transplantation outcomes. Further studies are required to optimize the treatment protocol and improve prognosis.