中国当代儿科杂志最新文献

A male full-term neonate was admitted at 30 minutes of life with pallor and 10 minutes of respiratory distress. Physical examination revealed pallor, increased intercanthal distance, low-set ears, a palpable cystic mass in the neck, hepatomegaly, a pedunculated, globular appendage attached to the right thumb, and an ectopic toenail on the right second toe. Laboratory testing showed severe anemia with hemoglobin of 44 g/L. Bone marrow examination demonstrated hypoplasia. Whole-exome sequencing identified a heterozygous pathogenic variant in the RPS19 gene, c.175T>C (p.Ser59Pro), establishing the diagnosis of Diamond-Blackfan anemia. On follow-up to 2 years and 2 months of age, both hemoglobin and reticulocyte counts remained within normal ranges. This case illustrates early-onset severe anemia in a neonate with genetically confirmed Diamond-Blackfan anemia and expands the phenotypic spectrum, informing clinical recognition and management.

An 11-year-old boy presented with erythematous plaques over the bilateral mandibular and mental regions for 2 years, accompanied by cough and dyspnea for more than 2 months. Chest computed tomography angiography revealed marked stenosis of the right pulmonary artery, irregular aortic caliber, and aortic wall thickening. Histopathological examination of the skin lesion, including immunohistochemistry and special stains, confirmed a chronic suppurative inflammation. Whole-exome sequencing was negative. A final diagnosis of granuloma faciale and Takayasu arteritis was established. Combination therapy with systemic tocilizumab, prednisone, and methotrexate, along with topical 0.1% tacrolimus ointment, resulted in a favorable clinical response. This report summarizes the clinical features of a pediatric case of granuloma faciale and Takayasu arteritis and reviews the etiology, diagnostic approach, and current treatment strategies for the disorders, aiming to enhance clinicians' understanding of these conditions.

Necrotizing enterocolitis (NEC) is a life-threatening gastrointestinal disease of neonates with a multifactorial pathogenesis involving prematurity, low birth weight, hypoxia, infection, and immune dysregulation. Owing to its superior data processing and diagnostic capabilities, artificial intelligence (AI) has been increasingly applied to support clinical care. By analyzing clinical and imaging data, AI approaches can aid in early identification, differential diagnosis, treatment decision-making, and prognostic evaluation, thereby complementing clinician judgment. This review summarizes recent advances in the application of AI and machine learning for NEC diagnosis and management, comparing the characteristics and strengths of different algorithms. The aim is to provide a reference for further development and implementation of AI-assisted tools in this field.

Objectives: To evaluate the safety and efficacy of thiotepa (TT)-containing conditioning regimens for allogeneic hematopoietic stem cell transplantation (HSCT) in children with inborn errors of immunity (IEI).

Methods: Clinical data of 22 children with IEI who underwent HSCT were retrospectively reviewed. Survival after HSCT was estimated using the Kaplan-Meier method.

Results: Nine patients received a traditional conditioning regimen (fludarabine + busulfan + cyclophosphamide/etoposide) and underwent peripheral blood stem cell transplantation (PBSCT). Thirteen patients received a TT-containing modified conditioning regimen (TT + fludarabine + busulfan + cyclophosphamide), including seven PBSCT and six umbilical cord blood transplantation (UCBT) cases. Successful engraftment with complete donor chimerism was achieved in all patients. Acute graft-versus-host disease occurred in 12 patients (one with grade III and the remaining with grade I-II). Chronic graft-versus-host disease occurred in one patient. The incidence of EB viremia in UCBT patients was lower than that in PBSCT patients (P<0.05). Over a median follow-up of 36.0 months, one death occurred. The 3-year overall survival (OS) rate was 100% for the modified regimen and 88.9% ± 10.5% for the traditional regimen (P=0.229). When comparing transplantation types, the 3-year OS rates were 100% for UCBT and 93.8% ± 6.1% for PBSCT (P>0.05), and the 3-year event-free survival rates were 100% and 87.1% ± 8.6%, respectively (P>0.05).

Conclusions: TT-containing conditioning for allogeneic HSCT in children with IEI is safe and effective. Both UCBT and PBSCT may achieve high success rates.

Objectives: To study the clinical characteristics of pediatric Behçet syndrome (BS).

Methods: A retrospective review was conducted on the medical records of children hospitalized in the Department of Pediatrics at the Second Hospital of Hebei Medical University between December 2014 and December 2024 who met diagnostic criteria for BS.

Results: Among 45 children with BS, 26 (58%) were male. Oral aphthous ulcers were the most common manifestation (43/45, 96%), followed by genital ulcers (23/45, 51%) and gastrointestinal involvement (18/45, 40%). Genital ulcers were more frequent in girls, whereas ocular involvement was more common in boys (P<0.05). The pathergy test was positive in 10 (22%), and HLA-B51 was positive in 13 (29%). Fecal calprotectin (FC) was elevated in 16 (36%); gastrointestinal involvement was more frequent in children with elevated FC than in those with normal FC (P<0.05). According to the respective criteria, 17 (38%) patients met the International Study Group criteria (1990), 33 (73%) met the International Criteria for Behçet Disease (2014), and 13 (29%) met the Pediatric Behçet Disease criteria (2015).

Conclusions: Pediatric BS shows marked clinical heterogeneity. HLA-B51 is associated with disease susceptibility.

Objectives: To investigate the epidemiological characteristics of human metapneumovirus (hMPV) and the risk factors for severe pneumonia in hospitalized children.

Methods: The epidemiological characteristics of hMPV in hospitalized children at Hebei Children's Hospital from January 2019 to December 2023 were retrospectively analyzed. The clinical data of hospitalized children with hMPV infection from April to December 2023 were included, and independent risk factors for severe pneumonia were identified through logistic regression.

Results: A total of 44 092 children were tested, with an hMPV positive rate of 7.30% (3 220/44 092). Children aged 3-6 years constituted the largest proportion (40.93%, 1 318/3 220) among hMPV-positive cases. The detection rate varied significantly by year (P<0.001), peaking in 2022 (12.35%, 978/7 919). The peak season of the epidemic was winter and spring from 2019 to 2021, but shifted to spring and summer from 2022 to 2023. The proportion of co-infection was 38.70% (1 246/3 220), primarily with rhinovirus (600/1 246, 48.15%), Mycoplasma pneumoniae (217/1 246, 17.42%), and respiratory syncytial virus (182/1 246, 14.61%). The main manifestations of hMPV pneumonia were cough, expectoration, and fever. Children with severe pneumonia were significantly younger (P<0.05). Wheezing, underlying diseases, co-infection, and younger age were identified as independent risk factors for severe pneumonia (P<0.05).

Conclusions: There are significant annual and seasonal differences in the epidemiological characteristics of hMPV in hospitalized children. Young age, underlying diseases, wheezing, and co-infection are independent risk factors for severe pneumonia.

Objectives: To investigate the chain mediating role of family care and emotional management in the relationship between social support and anxiety among rural primary school students.

Methods: A questionnaire survey was conducted among students in grades 4 to 6 from four counties in Hunan Province. Data were collected using the Social Support Rating Scale, Family Care Index Scale, Emotional Intelligence Scale, and Generalized Anxiety Disorder -7. Logistic regression analysis was used to explore the influencing factors of anxiety symptoms. Mediation analysis was conducted to assess the chain mediating effects of family care and emotional management between social support and anxiety.

Results: A total of 4 141 questionnaires were distributed, with 3 874 valid responses (effective response rate: 93.55%). The prevalence rate of anxiety symptoms among these students was 9.32% (95%CI: 8.40%-10.23%). Significant differences were observed in the prevalence rates of anxiety symptoms among groups with different levels of social support, family functioning, and emotional management ability (P<0.05). The total indirect effect of social support on anxiety symptoms via family care and emotional management was significant (β=-0.137, 95%CI: -0.167 to -0.109), and the direct effect of social support on anxiety symptoms remained significant (P<0.05). Family care and emotional management served as significant chain mediators in the relationship between social support and anxiety symptoms (β=-0.025,95%CI:-0.032 to -0.018), accounting for 14.5% of the total effect.

Conclusions: Social support can directly affect anxiety symptoms among rural primary school students and can also indirectly influence anxiety symptoms through the chain mediating effects of family care and emotional management. These findings provide scientific evidence for the prevention of anxiety in primary school students from multiple perspectives.

Objectives: To investigate the clinical efficacy and safety of low-dose rituximab (RTX) (<375 mg/m²) maintenance therapy in children with primary nephrotic syndrome (PNS).

Methods: A retrospective analysis was conducted on the clinical data of PNS children who received low-dose RTX therapy at the Department of Renal Immunology, Children's Hospital of Soochow University from July 2016 to March 2024. Remission rate, recurrence frequency, corticosteroid and tacrolimus usage, and adverse reactions before and after RTX treatment were analyzed.

Results: Compared with before treatment, low-dose RTX maintained remission in PNS, reduced the relapse frequency, and decreased the dosage of corticosteroids and tacrolimus (P<0.05). IgG levels did not significantly decrease, and no additional preventive anti-infective treatment was required.

Conclusions: Low-dose RTX therapy is effective and safe for treating PNS in children.

Objectives: To investigate the effects of hyperoxia on the expression of N-methyl-D-aspartate receptor 1 (NMDAR1) and its synapse-associated molecules, including cannabinoid receptor 1 (CB1R), postsynaptic density 95 (PSD95), and synapsin (SYN), in the hippocampus of neonatal rats.

Methods: One-day-old Sprague-Dawley neonatal rats were randomly divided into a hyperoxia group and a control group (n=8 per group). The hyperoxia group was exposed to 80% ± 5% oxygen continuously, while the control group was exposed to room air, for 7 days. At 1, 3, and 7 days after hyperoxia exposure, hematoxylin and eosin (HE) staining was used to observe histopathological changes in the brain. The expression levels of NMDAR1, CB1R, PSD95, and SYN proteins and mRNAs in the hippocampus were detected by immunohistochemistry, Western blotting, and quantitative real-time PCR.

Results: After 7 days of hyperoxia exposure, the hyperoxia group showed decreased neuronal density and disordered arrangement in brain tissue. Compared with the control group, after 1 day of hyperoxia exposure, CB1R mRNA and both NMDAR1 and CB1R protein expression in the hyperoxia group were significantly downregulated, while SYN protein expression was significantly upregulated (P<0.05). After 3 days, mRNA expression of NMDAR1, CB1R, and SYN was significantly decreased (P<0.05); NMDAR1 and CB1R protein expression was significantly downregulated (P<0.05), while PSD95 and SYN protein expression was significantly upregulated (P<0.05). After 7 days of hyperoxia, the protein expression of NMDAR1 and CB1R was significantly upregulated (P<0.05).

Conclusions: Continuous hyperoxia exposure induces time-dependent changes in the expression levels of NMDAR1 and its synapse-associated molecules in the hippocampus of neonatal rats.

Objectives: To investigate the growth parameters of children with phenylketonuria and assess the impact of a phenylalanine-restricted diet on their physical development.

Methods: The study involved 39 children diagnosed with phenylketonuria through newborn screening at the Central Child Teaching Hospital, Baghdad, Iraq. Data were collected during scheduled monthly check-ups, including phenylalanine levels, diet compliance, and anthropometric measurements. The children were divided into two groups based on their phenylalanine levels during the 3-year follow-up period: well-controlled group (average phenylalanine level of less than 360 μmol/L, with no single reading exceeding 600 μmol/L; n=14) and poorly-controlled group (one or more phenylalanine readings above 600 μmol/L during the follow-up period; n=25).

Results: The mean height readings for all time points (at birth and 3, 6, 9, 12, 15, 18, 21, 24 and 36 months of age) were higher in the well-controlled group than the poorly-controlled group, however, only at 3 months of age the difference was statistically significant. Height Z-scores revealed a clearer pattern: although the poorly-controlled group had higher height Z-scores at birth (P=0.001), the well-controlled group showed significantly higher height Z-scores at 3, 6, 12, 15, 18, 24, and 36 months (P<0.05). The well-controlled group exhibited significantly higher mean weight measurements compared to the poorly-controlled group at 3, 6, 9, 15, 18 months and 21 months (P<0.05). From 6 to 36 months, the well-controlled group consistently had significantly higher weight Z-scores than the poorly-controlled group (P<0.05). The well-controlled group showed more favorable height and weight Z-score distributions at 36 months of age compared to the poorly-controlled group, but the differences were not statistically significant (P>0.05). Both groups had height and weight Z-scores within the normal range at 36 months of age.

Conclusions: The children with phenylketonuria who receive good dietary control show better improvements in growth parameters compared to those with poor dietary control, however, both groups maintain height and weight Z-scores within the normal range, indicating generally adequate physical development across the cohort.