Objective To characterize the molecular profiles of Klebsiella pneumoniae isolates causing neonatal sepsis and assess their clinical implications. Methods Clinical data and bloodstream isolates from neonates with Klebsiella pneumoniae sepsis admitted to four hospitals in Hebei Province from 2020 to 2024 were collected. Whole-genome sequencing was performed to analyze molecular characteristics of the pathogenic strains. Clinical features were compared between virulence gene-carrying and non-carrying groups. A phylogenetic tree based on sequencing data was constructed to explore potential transmission routes. Results A total of 37 infants and their clinical bloodstream isolates were included. Thirty-three (89%) had late-onset infection, and 32 (86%) were hospital-acquired. Preterm infants accounted for 95%. Twenty-eight (76%) underwent invasive procedures, and 13 (35%) had prior exposure to broad-spectrum antimicrobials. All infants were cured after treatment. Resistance rates to third-generation cephalosporins and carbapenems were 89% and 27%, respectively. ST45 was the most common sequence type. The carriage rates of extended-spectrum β-lactamase and carbapenemase genes were 84% and 24%, respectively. Concordance between resistance genes and phenotypic resistance was 86%. Clinical antimicrobial use was not fully consistent with resistance phenotypes or gene carriage. Among virulence genes, ybt had the highest carriage rate (54%). The proportion of concurrent infections at other sites did not differ significantly between the virulence gene-carrying and non-carrying groups (50% vs 29%, P=0.315). Phylogenetic analysis revealed intra-hospital and inter-hospital transmission of Klebsiella pneumoniae strains causing neonatal sepsis. Conclusions Detection of antimicrobial resistance and virulence genes facilitates deeper understanding of bacterial pathogenesis and provides a basis for optimizing regional infection control and antimicrobial treatment strategies.
Objective To investigate the clinical diagnostic value of the endothelial glycocalyx injury biomarker syndecan-1 (SDC-1) for necrotizing enterocolitis (NEC) in preterm infants. Methods A multicenter, prospective study was conducted from February to July 2025 at the First Affiliated Hospital of Army Medical University, Sichuan Maternal and Child Health Hospital, and Liaocheng People's Hospital. Preterm infants with Bell stage Ⅱ-Ⅲ NEC were enrolled as the NEC group (n=38), and contemporaneous non-NEC preterm infants were selected in a 1∶1 ratio as the non-NEC group (n=38). Perinatal data and measurements of complete blood counts, SDC-1, and high-sensitivity C-reactive protein (hs-CRP) were collected. Multivariable logistic regression was used to evaluate risk factors for NEC. Receiver operating characteristic (ROC) curves were used to assess diagnostic performance of SDC-1. Results Neutrophil count, SDC-1, and hs-CRP levels were significantly higher in the NEC group than in the non-NEC group (P<0.05), while platelet count was significantly lower (P<0.05). Elevated SDC-1 (OR=1.081, 95%CI: 1.028-1.137; P<0.05) and hs-CRP (OR=1.267, 95%CI: 1.051-1.527; P<0.05) were independent risk factors for NEC. ROC analysis showed that SDC-1 (cutoff 125 ng/mL) and hs-CRP (cutoff 6.56 mg/L) yielded areas under the curve (AUCs) of 0.882 and 0.863, respectively. Their combination achieved an AUC of 0.938 with a sensitivity of 76.3% and a specificity of 97.4%. Conclusions SDC-1 is a potential biochemical biomarker for diagnosing NEC in preterm infants, but its clinical utility requires further validation in larger-sample studies.
Objective To investigate the dynamic development of gut microbiota in preterm infants during their first year after birth and to compare the microbiota profiles between preterm infants of different gestational ages. Methods In this prospective study, 81 preterm infants (including 37 early preterm and 44 moderate-to-late preterm infants) and 26 full-term infants were enrolled from Shenzhen Bao'an Women and Children's Hospital between January 2021 and September 2022. Fecal samples were collected at 1, 6, and 12 months of age. 16S rRNA sequencing was conducted, followed by comprehensive bioinformatics analysis. Results The alpha diversity indices of the gut microbiota in preterm infants increased significantly from 1 to 12 months of age (P<0.001). With increasing age, the relative abundances of Clostridium, Streptococcus, Klebsiella, and Staphylococcus decreased, whereas those of Bifidobacterium, Lactobacillus, and Bacteroides increased. At 1 month of age, significant disparities were observed in alpha diversity, beta diversity, and taxonomic abundances among different gestational age groups. Specifically, Clostridium and Aeromonas were enriched in early preterm infants. By 12 months of age, no significant differences in these microbial metrics were detected across the gestational age groups (P>0.05). Conclusions The gut microbiota of preterm infants becomes progressively more diverse during the first year of life. Preterm infants with lower gestational age harbor a higher relative abundance of potentially pathogenic genera in their early gut microbiota. However, the influence of gestational age on microbial composition diminishes over time.
Objective To systematically evaluate the incidence and risk factors of pulmonary hypertension (PH) associated with bronchopulmonary dysplasia (BPD) in preterm infants. Methods Cohort and case-control studies on the incidence and risk factors of PH complicating BPD (hereinafter referred to as BPD-PH) in preterm infants, published from database inception to July 2024, were retrieved from China National Knowledge Infrastructure, Wanfang Data, VIP Database, Chinese Biomedical Literature Database, PubMed, Web of Science, Embase, MEDLINE, and Cochrane Library. Meta analysis was performed using Stata 15.0 software. Results A total of 15 studies involving 4 561 preterm infants were included. Meta analysis results showed that the overall incidence of BPD-PH in preterm infants was 20.1% (95%CI: 16.1%-24.0%). Hemodynamically significant patent ductus arteriosus (OR=3.43), mechanical ventilation duration (OR=1.05), small for gestational age (SGA) (OR=7.30), severe BPD (OR=13.25), patent ductus arteriosus requiring surgical ligation (OR=6.03), oligohydramnios (OR=7.24), ventilator-associated pneumonia (OR=3.97), and respiratory distress syndrome (OR=2.70) were identified as risk factors for BPD-PH in preterm infants (P<0.05). Conclusions The overall incidence of BPD-PH in preterm infants is relatively high. Hemodynamically significant patent ductus arteriosus, mechanical ventilation duration, SGA, severe BPD, patent ductus arteriosus requiring surgical ligation, oligohydramnios, ventilator-associated pneumonia, and respiratory distress syndrome can increase the risk of PH in preterm infants with BPD, and clinical monitoring should prioritize BPD infants with these high-risk factors.
Objective To investigate the impact of maternal prepregnancy body mass index (BMI) on maternal and infant outcomes in twin pregnancies. Methods A retrospective analysis included 4 824 twin pairs and their mothers with complete records, delivered at 21 tertiary grade-A hospitals nationwide from January 2018 to December 2020. Participants were grouped by prepregnancy BMI: underweight (<18.5 kg/m²; n=566), normal weight (18.5 to <24.0 kg/m²; n=3 120), overweight (24.0 to <28.0 kg/m²; n=892), and obese (≥28.0 kg/m²; n=246). Differences and associations in adverse maternal and infant outcomes were compared among groups. Results The gestational age in the overweight group was lower than in the normal and underweight groups, with a higher rate of very preterm birth (P<0.008). Compared with the normal and overweight groups, the proportion of small-for-gestational-age (SGA) neonates was higher in the underweight group (P<0.008). After adjustment for confounders, the obese group had higher risks of gestational diabetes mellitus and hypertensive disorders of pregnancy than the normal and underweight groups (all P<0.001). Compared with the normal group, the underweight group had a higher risk of SGA among twins (P<0.05). Conclusions Maternal prepregnancy BMI is closely associated with maternal and infant outcomes in twin pregnancies, providing evidence-based support for individualized weight management.
Objective To study the clinical characteristics of children with severe drowning admitted to the pediatric intensive care unit and to identify risk factors for mortality. Methods Clinical data of 49 children with severe drowning admitted between January 2015 and December 2024 were retrospectively analyzed. Multivariable logistic regression was used to determine risk factors for mortality and to construct a prediction model. Model performance for mortality risk was evaluated using the receiver operating characteristic (ROC) curve. Results Among the 49 patients, the mortality rate was 24% (12/49), and the incidence of neurological sequelae among survivors was 22% (8/37). Multivariable logistic regression analysis showed that admission Glasgow Coma Scale (GCS) score (OR=0.43, P<0.05), drowning duration (OR=1.22, P<0.05), and total prehospital time (per 10 minutes increase, OR=1.85, P<0.05) were associated with mortality. A mortality prediction model was constructed based on these three factors: logit(P)=6.26-0.85×GCS score at admission + 0.20×drowning duration (minutes) + 0.62×[total prehospital time (minutes)/10]. The area under the ROC curve was 0.912 (P<0.001), with a sensitivity of 83.3% and a specificity of 91.9%. Conclusions Severe drowning in children has a high mortality and a high rate of adverse outcomes. Admission GCS score, drowning duration, and total prehospital time are core risk factors for predicting mortality, and their combination serves as an effective indicator for early risk stratification.
Objective To assess the predictive value of the Pediatric Sequential Organ Failure Assessment (pSOFA), Pediatric Index of Mortality 3 (PIM-3), Pediatric Risk of Mortality IV (PRISM IV), Phoenix Sepsis Score (PSS), Phoenix Sepsis Score-8 (Phoenix-8), the ratio of neutrophil count to lymphocyte and platelet count (N/LPR), and a nomogram constructed from these factors for 28-day mortality in children with sepsis. Methods A retrospective analysis was conducted on 267 children with sepsis admitted to the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University from January 2017 to January 2025. Patients were categorized into a survival group (n=208) and a death group (n=59). Differences in clinical indicators between the two groups were compared. Univariate and multivariable logistic regression were used to identify independent risk factors for 28-day mortality and to construct a nomogram. Predictive performance was evaluated using receiver operating characteristic curves, calibration curves, and decision curve analysis. Results pSOFA, PIM-3, PRISM IV, PSS, Phoenix-8 scores, N/LPR, and lactate levels were significantly higher in the death group than in the survival group (P<0.05). Multivariable logistic regression identified pSOFA, PRISM IV, PSS, and N/LPR as independent risk factors for 28-day mortality. The nomogram based on these factors achieved the area under the receiver operating characteristic curves of 0.940 in the training group and 0.911 in the validation group, with good calibration according to the Hosmer-Lemeshow test (P>0.05), and decision curve analysis indicated good clinical applicability. Conclusions A nomogram incorporating pSOFA, PRISM IV, PSS, and N/LPR shows good predictive value for 28-day mortality risk in children with sepsis.
Objective To investigate the clinical characteristics and prognosis of childhood acute lymphoblastic leukemia (ALL) with PDGFRB rearrangement. Methods A retrospective analysis was conducted of 7 childhood ALL patients with PDGFRB rearrangement who were diagnosed and initiated on therapy at the Children's Hospital, The First Affiliated Hospital of Zhengzhou University from January 2020 to December 2024, assessing clinical features, laboratory findings, treatment, and survival. Results Seven children with PDGFRB-rearranged ALL were identified, accounting for 1.0% (7/673) of ALL cases during the same period. There were 3 males and 4 females, with a median age at diagnosis of 8 years (range: 1-12 years). One case was T-acute lymphoblastic leukemia (T-ALL) and 6 cases were B-acute lymphoblastic leukemia (B-ALL). Fusion partners included EBF1-PDGFRB in 4 cases, ROCK1-PDGFRB in 1 case, CCDC88C-PDGFRB in 1 case, and SSBP2-PDGFRB in 1 case. Six patients had concurrent gene mutations, including IKZF1, EBF1, PAX5, CDKN2A, and CDKN2B. One patient was positive for the ETV6-RUNX1 fusion gene, and one for the STIL-TAL1 fusion gene. All 7 patients had normal karyotypes. All patients received chemotherapy, achieving a 100% complete remission rate after one course. Minimal residual disease (MRD) negativity rate was 57% (4/7), and PDGFRB fusion transcript became negative in 3/7 (43%). Three patients underwent allogeneic hematopoietic stem cell transplantation in remission and remain disease-free, while 2 of the 4 non-transplanted patients died. Conclusions PDGFRB-rearranged ALL in children is uncommon, is most often detected in B-ALL, and presents at a relatively older age. Fusion partners are diverse and frequently co-occur with additional gene mutations. Despite high initial remission, MRD negativity and molecular clearance rates remain suboptimal, and allogeneic hematopoietic stem cell transplantation may improve prognosis.
Objective To evaluate the efficacy and safety of percutaneous endoscopic gastrostomy (PEG) in children with methylmalonic acidemia (MMA) or propionic acidemia (PA) complicated by feeding difficulties. Methods Clinical data of seven children with MMA/PA and feeding difficulty who underwent PEG at Shenzhen Maternity and Child Healthcare Hospital from June 2021 to April 2025 were retrospectively analyzed. Preoperative assessment, perioperative management, and postoperative follow-up were summarized. Results The median age at PEG placement was 20 months. All PEG placements were successfully completed in a single attempt. The mean operative time was (21.0 ± 2.2) minutes, intraoperative blood loss was 1-2 mL, and the mean postoperative hospital stay was (5.7 ± 1.1) days. At 6 months postoperatively, compared with preoperative values, body weight and length increased, the frequency of acidosis episodes decreased, daily feeding time was shortened, time spent on outdoor activities increased, and serum prealbumin levels rose (all P<0.05). During 6-12 months of follow-up, the most common complication was peristomal hypergranulation (five cases). One case developed gastrostomy-site perforation 7 months postoperatively. Conclusions PEG effectively improves nutritional and metabolic status in children with MMA/PA complicated by feeding difficulties and is a safe, effective method for long-term enteral nutrition support.
Objective To examine the effect of the quality of the parent-child relationship on preschoolers' social skills and the cross-time chain mediating roles of executive function and emotion regulation. Methods Using stratified random sampling, 518 preschoolers aged 3-5 years in Nanjing were followed for one year in a two-wave longitudinal design. Questionnaires were used to assess the quality of the parent-child relationship, executive function, emotion regulation, and social skills. Results Pairwise correlations among the quality of the parent-child relationship (Time 1, T1), executive function (T1), emotion regulation (Time 2, T2), and social skills (at T1 and T2) were all significant (P<0.001). The quality of the parent-child relationship (T1) predicted preschoolers' social skills (T2) through the independent mediating effect of emotion regulation (T2), which accounted for 56.25% of the total indirect effect, and through the cross-time chain mediating effect of executive function (T1) and emotion regulation (T2), which accounted for 31.25% of the total indirect effect. Conclusions Executive function and emotion regulation play a cross-time chain mediating role in the link between the parent-child relationship and preschoolers' social skills.
A 12-year-old boy presented with recurrent abdominal pain for more than 5 months and a perianal mass for 10 days. Gastrointestinal endoscopy revealed multiple ulcers in the terminal ileum and colon, and Crohn's disease was diagnosed based on histopathology. The patient had atopic dermatitis and had previously received upadacitinib; after the diagnosis of Crohn's disease, upadacitinib was continued. During a total follow-up of 100 weeks, the patient maintained clinical remission without serious adverse reactions. This is the first report from China on upadacitinib treatment for pediatric Crohn's disease and provides guidance for its use in this population.
The patient was a 7-year-old boy admitted with facial edema. Ultrasound indicated moderate pericardial effusion and pleural effusion. Contrast-enhanced chest computed tomography showed indistinct mediastinal structures with mild-to-moderate enhancement, suggestive of a mediastinal space-occupying lesion. Further evaluation with whole-body PET-CT, pathological biopsy of the mediastinal lesion, cytological examination of pleural and pericardial effusions, and immunohistochemistry led to the final diagnosis of isolated myeloid sarcoma. Pathological examination is the gold standard for clinical diagnosis; however, limited sampling sites can result in missed or incorrect diagnoses. Multiple and multi-site sampling should be undertaken according to the clinical context, combined with flow cytometry and immunohistochemistry to assist diagnosis and reduce missed diagnoses and misdiagnoses.
A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous missense variant in KDM3B (c.5147T>C, p.Leu1716Pro), supporting a diagnosis of Diets‑Jongmans syndrome. This case further enriches the mutation spectrum of Diets‑Jongmans syndrome and suggests that early genetic testing helps clarify the etiology in children with developmental delay or intellectual disability, autism spectrum disorder, and short stature.
With the development and launch of anti-seizure medications, some genetic epilepsies have precision treatments; however, many patients remain drug-resistant, which severely affects quality of life and overall health. Advances in gene therapy have changed traditional diagnostic and therapeutic approaches for hereditary diseases, improved diagnostic accuracy, and brought new hope to patients. Adeno-associated virus is a leading vector in gene therapy and is widely used. This review summarizes the application prospects and challenges of adeno-associated virus-mediated gene therapy for genetic epilepsy to inform clinical practice.
Kawasaki disease (KD) is an acute systemic immune‑mediated vasculitis that can lead to coronary artery lesions. Its etiology remains unclear and may involve immune responses, inflammatory reactions, and vascular endothelial injury mediated by multiple signaling pathways. In recent years, the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling pathway has attracted widespread attention for its pivotal role in infection, autoimmune diseases, and inflammatory diseases. By activating type I interferons and pro-inflammatory mediators, this pathway participates in the inflammatory cascade. This review summarizes the mechanistic roles of the cGAS-STING pathway in KD and the prospects for clinical application, providing a new perspective for basic research and clinical intervention.
Neonatal necrotizing enterocolitis (NEC) is a life-threatening acute gastrointestinal disorder in preterm infants, characterized by high morbidity and mortality. Approximately 20%-60% of infants with NEC require emergency surgical intervention due to intestinal perforation or failure of medical management, and mortality risk increases markedly when surgery follows perforation. Traditional imaging and biomarkers have limited performance in predicting surgical timing. In recent years, multimodal imaging technologies, novel biomarkers, and machine learning algorithms have shown higher predictive value than conventional tests and clinical indicators for determining surgical timing in NEC. This review summarizes recent advances in predictive methodologies for surgical decision-making in NEC.
Kawasaki disease (KD) is an acute febrile illness characterized by systemic vasculitis predominantly affecting small- and medium-sized arteries in children, and its etiology and pathogenesis remain unclear. Studies show that gut microbiota dysbiosis can aggravate vascular endothelial injury and systemic inflammation by reducing short-chain fatty acid production and activating the nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 inflammasome. Antibiotic use may further disrupt microbial homeostasis, decrease the response rate to intravenous immunoglobulin therapy in KD, and increase the risk of coronary artery lesions. This review systematically summarizes the characteristic alterations of the gut microbiota in KD and the mechanisms by which antibiotics influence disease prognosis via the gut-vascular axis, and provides a theoretical basis for microbiota-targeted interventions.
Childhood malignancies, as a serious threat to children's health, not only cause tremendous suffering to children but also impose a heavy economic burden on their families and have become a major global public health challenge. The financial toxicity experienced by families of children with malignancies has distinctive features, and current assessment tools have limitations. In response to this challenge, multilevel response strategies have been developed worldwide. This review systematically examines the current situation, challenges, and response strategies, aiming to provide a basis for alleviating financial toxicity among families of children with malignancies and to promote health equity and social development.