Neonatal respiratory distress syndrome (RDS) is a critical disease caused by pulmonary surfactant (PS) deficiency, leading to respiratory distress soon after birth. Comprehensive perinatal interventions can significantly improve outcomes. The core goal of RDS management is to maximize infant survival while minimizing lung injury. Based on the latest evidence, European neonatologists and obstetricians jointly developed the "European consensus guidelines on the management of respiratory distress syndrome: 2025". The guidelines provide evidence-based clinical recommendations for the management of RDS in preterm infants, covering the entire pathway from prenatal interventions, delivery room stabilization, surfactant administration, non-invasive and invasive respiratory support, to comprehensive supportive care. The aim is to reduce the incidence of lung injury through targeted interventions, increase survival rates, and improve long-term neurodevelopmental outcomes. This article interprets the 2025 guidelines in comparison with the 2022 version, aiming to improve the clinical competence of Chinese neonatologists in the diagnosis and treatment of RDS.
Abnormalities in growth and development in children with methylmalonic acidemia (MMA) have become a central challenge affecting prognosis. As a relatively common disorder of organic acid metabolism, MMA has a complex etiology and exhibits highly heterogeneous clinical manifestations. Among these, neurodevelopmental delay and impaired somatic growth are particularly prominent and are key determinants of poor long-term outcomes. Accordingly, early identification, refined assessment, and individualized intervention for these growth and developmental problems are focal points of current MMA clinical management. This review focuses on the occurrence status, potential mechanisms, and intervention strategies for growth and developmental abnormalities in MMA, aiming to provide a reference for optimizing patient management and improving long-term outcomes.
Objective To evaluate the clinical efficacy and safety of the 3-month formulation of triptorelin (triptorelin pamoate) in the treatment of idiopathic central precocious puberty (ICPP) in children. Methods A retrospective analysis was conducted of 49 children with ICPP treated with the 3-month formulation of triptorelin at Xiangya Hospital, Central South University, from May 2023 to September 2025. All patients received at least one injection and completed a 3-month follow-up. The numbers of patients who subsequently completed 6-, 9-, and 12-month follow-ups were 42, 26, and 11, respectively. Sex hormone levels, growth and development, and the differences between bone age and chronological age (ΔBA-CA) were assessed at 3, 6, 9, and 12 months after treatment initiation. Results At diagnosis, after the gonadotropin-releasing hormone agonist stimulation test, the peak luteinizing hormone (LH) level was (15.6±5.8) IU/L, the peak follicle-stimulating hormone (FSH) level was (8.5±3.9) IU/L, and the peak LH/FSH ratio was 1.9±0.9. After 3 months of treatment, 92% of the children achieved a peak LH <3 IU/L, all children had a peak LH/FSH ratio <0.6, and estradiol or testosterone decreased to prepubertal levels; this suppression was maintained through 12 months without rebound. In girls, uterine length was significantly reduced from baseline at 3, 6, 9, and 12 months (P<0.0125). In boys, testicular volume was significantly reduced from baseline at each follow-up (P<0.0125). At 3, 6, 9, and 12 months, ΔBA-CA was significantly decreased compared with baseline in all children (P<0.0125). The incidence of adverse reactions during treatment was low, no treatment discontinuations due to adverse events occurred, and overall tolerability was good. Conclusions The 3-month formulation of triptorelin effectively suppresses the hypothalamic-pituitary-gonadal axis and delays bone age progression in children with ICPP, providing the potential to improve adult height, with a favorable safety profile.
Objective To study the efficacy and safety of upadacitinib in children with refractory inflammatory bowel disease (IBD). Methods Clinical data of eight children with refractory IBD treated with upadacitinib at the Children's Hospital, Zhejiang University School of Medicine, from December 1, 2023 to May 20, 2025 were retrospectively collected to evaluate efficacy and safety. Results Eight children were included [Crohn's disease (CD), n=5; ulcerative colitis (UC), n=3]; seven were male and one was female. At baseline, six patients had mild disease activity (CD, n=4; UC, n=2) and two had severe activity (CD, n=1; UC, n=1). In UC, all three patients achieved clinical remission by week 2; the week-8 steroid-free clinical remission rate was 67% (2/3). In CD, after 4 weeks of upadacitinib, one patient achieved a clinical response and two switched to other drugs due to persistent activity; the week-12 clinical response rate was 20% (1/5). After 12 weeks, one additional patient switched therapy due to disease activity, and two received combination therapy with thalidomide and exclusive enteral nutrition, respectively. The median follow-up duration was 28 weeks. Overall, five patients achieved clinical remission; among CD, two achieved clinical remission at weeks 14 and 20, respectively. Among eight patients, one episode of norovirus infection occurred, complicated by hypovolemic shock. Conclusions Upadacitinib can induce a rapid response in children with refractory UC. In refractory CD, combining upadacitinib with agents of different mechanisms may increase the clinical remission rate. Multicenter studies with larger samples are required for confirmation, and vigilance for infection during treatment is warranted.
Objective To investigate the effect of intraoperative hypothermia on short-term prognosis in neonates with necrotizing enterocolitis (NEC) undergoing surgery. Methods Clinical data of 150 neonates with NEC who underwent surgery at Children's Hospital of Chongqing Medical University from June 2017 to August 2023 were retrospectively collected. Based on the lowest intraoperative temperature, patients were classified into a normothermia group (≥36.0℃, n=49), a mild hypothermia group (35.0-35.9℃, n=73), a moderate hypothermia group (34.0-34.9℃, n=20), and a severe hypothermia group (<34.0℃, n=8). Postoperative outcomes were analyzed across groups. Results Intraoperative hypothermia occurred in 101/150 (67.3%) neonates. Mild hypothermia significantly increased the risk of postoperative coagulation disorders (OR=2.170, 95%CI: 1.035-4.552, P<0.05). Postoperative hospital stay was significantly prolonged in the mild (B=12.250, 95%CI: 1.176-23.324, P<0.05) and severe hypothermia groups (B=24.510, 95%CI: 1.645-47.376, P<0.05), while the duration of central venous catheterization was significantly increased in the moderate hypothermia group (B=11.388, 95%CI: 1.625-21.15, P<0.05). Conclusions Intraoperative hypothermia is common in neonates with NEC undergoing surgery, and different degrees of hypothermia are associated with distinct adverse effects on short-term prognosis. Intraoperative temperature management should be prioritized, and active warming measures should be implemented to improve outcomes.
Objective To analyze surveillance data on birth defects among perinatal infants in Guiyang City from 2016 to 2024, predict future trends, and provide a scientific basis for prevention and control strategies. Methods Perinatal birth defect data for Guiyang City during 2016-2024 were collected and statistically analyzed. An ARIMA model was established to predict monthly birth defect incidence for 2025-2026. Results The average annual incidence rate of birth defects in Guiyang City was 45.1‰, with an overall upward trend (P<0.001). The top five defects overall were congenital heart disease, external ear malformation, polydactyly, clubfoot, and hypospadias, with slight year-to-year variation in ranking; congenital heart disease consistently ranked first. The birth defect detection rate was higher in male infants (48.3‰) than in female infants (41.3‰) (P<0.001), and higher in rural areas (53.2‰) than in urban areas (44.3‰) (P<0.001). Among maternal age groups, the incidence was highest in infants of mothers aged ≥35 years (50.5‰). Most diagnoses were confirmed within 7 days postpartum, accounting for 82.71% of cases (10 489 cases). The ARIMA model predicted monthly mean incidence rates of 84.9‰ in 2025 and 91.2‰ in 2026, indicating a continued upward trend. Conclusions The incidence of birth defects in Guiyang shows an upward trajectory, with congenital heart disease as the leading defect. Targeted management for key populations such as rural residents and advanced-age pregnant women is recommended; the prenatal screening process should be standardized, and high-risk interventions strengthened via prenatal diagnosis centers to improve the quality of the newborn population.
Objective To investigate predictors of non-invasive positive pressure ventilation (NIPPV) failure in children with severe pneumonia using propensity score matching. Methods A retrospective case-control study included 79 children with severe pneumonia who experienced NIPPV failure at the Children's Hospital of Chongqing Medical University from January 2021 to December 2023 and 118 contemporaneous children who had successful NIPPV. Propensity score matching was used for 1∶1 matching on baseline variables. Multivariable logistic regression analysis was performed to identify predictors of NIPPV failure, and receiver operating characteristic (ROC) curves were used to evaluate the predictive performance of selected variables. Results After matching, 77 patients were included in each group, with no statistically significant differences in baseline characteristics (P>0.05). Multivariable logistic regression showed that respiratory rate (OR=1.109) and heart rate (OR=1.064) at 12-24 hours after NIPPV, Pediatric Early Warning Score (PEWS) score before NIPPV (OR=2.809), and lung consolidation on chest imaging before NIPPV (OR=16.144) were positive predictors of NIPPV failure (all P<0.05). Pulse oxygen saturation (SpO2) at 12-24 hours after NIPPV was a negative predictor of NIPPV failure (OR=0.414, P<0.05). ROC analysis showed that SpO2 at 12-24 hours after NIPPV predicted NIPPV failure with an area under the curve (AUC) of 0.906, sensitivity of 70.1%, specificity of 98.7%, and an optimal cutoff of 92%. The PEWS score before NIPPV predicted NIPPV failure with an AUC of 0.784, sensitivity of 64.9%, specificity of 84.4%, and an optimal cutoff of 3.5 points. Conclusions In children with severe pneumonia receiving NIPPV, close monitoring of respiratory rate, heart rate, and SpO2 is essential, and risk stratification for treatment failure should incorporate pre-treatment chest imaging findings (consolidation area) and PEWS score.
Objective To investigate the efficacy and safety of reduced-dose emicizumab (EMI) prophylaxis in infants under one year of age with severe hemophilia A (HA). Methods Medical records of 11 infants aged ≤12 months with severe HA who received reduced-dose EMI in the Department of Hematology and Oncology, Shenzhen Children's Hospital, from July 2022 to June 2025 were retrospectively reviewed. Efficacy and safety were analyzed statistically. Results The median age at EMI initiation was 7.9 months (range 4.2-11.2 months). The median loading dose (first 4 weeks) and median maintenance dose were 6.2 mg/kg per 4 weeks (range 2.8-12.6 mg/kg per 4 weeks) and 3.1 mg/kg per 4 weeks (range 2.0-4.8 mg/kg per 4 weeks), respectively. The median duration of EMI prophylaxis was 15.8 months (range 1.7-36.0 months). After treatment, the median (range) annualized bleeding rate, spontaneous annualized bleeding rate, and annualized treated bleeding rate were 0.5 (0-6.2), 0 (0-0.5), and 0 (0-3.0), respectively. All decreased compared with pre-treatment, and the reduction in spontaneous annualized bleeding rate was statistically significant (P<0.05). Overall, 64% (7/11) of patients experienced no bleeding events requiring treatment. No EMI-related adverse events were observed. Conclusions Reduced-dose EMI prophylaxis effectively controls bleeding in infants with hemophilia A and shows good safety.
Objective To describe the current status of transition preparation among adolescents with thalassemia major (TM), identify its influencing factors, and provide a basis for transition-period interventions. Methods A convenience sampling approach was used to recruit 138 adolescent inpatients with TM from two tertiary Grade A hospitals in western Guangxi from April to December 2024. Data were collected using a general information questionnaire, a transition preparation questionnaire, the Pediatric Quality of Life Inventory Generic Core Scales, and the Family Caregiving Measurement Scale. Multivariable regression analysis was conducted to determine factors associated with transition preparation. Results Among the 138 adolescents with TM, the mean total transition preparation score was 59±9, the family caregiving score was 189±23, and the quality of life score was 57±14. Age, disease duration, monthly family income, exposure to transition-related information, caregiver education level, family caregiving level, and quality of life level were significantly associated with transition preparation (P<0.05). Conclusions Transition preparation among adolescents with TM is at a moderate level. Nursing staff should tailor family-focused interventions according to patient age and family caregiving capacity to promote transition preparation and improve quality of life.
Objective To investigate the clinical features, treatment, and prognosis of pyruvate kinase deficiency (PKD) caused by PKLR gene variants. Methods Clinical data of six patients with PKD who received care at the Affiliated Hospital of Qingdao University from August 2014 to August 2025 were retrospectively analyzed. Results Of the six patients, five were children with onset in infancy, and one was an adult whose disease onset occurred at school age. All presented with jaundice and anemia, and PKD was confirmed by genetic testing. Two patients underwent splenectomy due to frequent transfusion. Three patients were mild, required no regular transfusion, and did not undergo splenectomy. One patient died. Conclusions PKD manifests chronic hemolysis with variable clinical severity. Genetic testing is recommended for diagnosis. Curative therapy remains lacking; management is mainly supportive. Splenectomy may reduce transfusion dependence and improve quality of life.
Objective To investigate the molecular mechanism by which fecal microbiota transplantation (FMT) alleviates gastrointestinal inflammation after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in murine acute graft-versus-host disease (aGVHD). Methods A murine aGVHD model after allo-HSCT was established, and BALB/c mice were randomly assigned to blank control, bone marrow transplantation, aGVHD model, and FMT treatment groups (n=6 per group). Disease severity was assessed by histopathology. Expression of receptor-interacting protein kinase (RIPK)1, RIPK3, and mixed lineage kinase domain-like protein (MLKL) was evaluated by immunohistochemistry. Protein levels of RIPK1, RIPK3, MLKL, phosphorylated RIPK1 (p-RIPK1), and phosphorylated MLKL (p-MLKL) were determined by Western blotting. Plasma regenerating islet-derived protein 3 alpha (Reg3α) was measured by enzyme-linked immunosorbent assay. The intestinal microbiota was profiled by 16S rRNA gene sequencing. Results Compared with the aGVHD model group, the FMT group showed higher relative abundances of Firmicutes and Bacteroidetes and a lower relative abundance of Proteobacteria; body weight loss was markedly attenuated, and survival time was prolonged. Alpha-diversity indices (Simpson, Pielou, Shannon) increased in the FMT group (P<0.05). Intestinal pathology scores, expression of RIPK1, RIPK3, and MLKL, protein levels of RIPK1, RIPK3, MLKL, p-RIPK1, and p-MLKL, and plasma Reg3α levels were significantly reduced in the FMT group versus the aGVHD model group (all P<0.05). Conclusions FMT may attenuate gastrointestinal inflammation in aGVHD by restoring intestinal microbial balance and inhibiting the RIPK1/RIPK3-mediated necroptosis pathway.
Five neonates with organic acidemia complicated by severe hyperammonemia were reported, including one case of isovaleric acidemia (IVA), three cases of methylmalonic acidemia (MMA), and one case of propionic acidemia (PA). The neonates were 3 to 19 days old. All presented with nonspecific symptoms such as poor feeding and decreased responsiveness, some with vomiting. All had dyspnea, and one had seizures. All cases were genetically confirmed: the IVA case carried a homozygous IVD variant, the three MMA cases carried compound heterozygous MMUT variants, and the PA case carried a homozygous PCCA variant. During the acute hyperammonemic phase, all five received N-carbamylglutamate (NCG). Two critically ill infants with peak ammonia >1 500 μmol/L underwent continuous veno-venous hemodialysis first and were started on oral NCG after ammonia fell below 200 μmol/L; the other three received oral NCG directly. Blood ammonia levels declined markedly in all cases, feeding was resumed successfully, and protein intake was gradually increased. In the chronic phase, all were maintained on oral NCG. One MMA infant died at 6 days of age due to treatment withdrawal by the family; the remaining four maintained ammonia <80 μmol/L. Over more than 12 months of follow-up, all four survivors had growth parameters (length, weight, and head circumference) within normal ranges, with two exhibiting mild delays in gross motor and language comprehension. NCG shows good safety and effectiveness for both acute rescue and long-term management of organic-acidemia-related hyperammonemia, and provides a reference strategy for clinical care.
A 10-year-old boy was admitted with facial edema and proteinuria for two months, occurring nine months after hematopoietic stem cell transplantation. He was clinically diagnosed with nephrotic syndrome and showed no remission after four weeks of standard glucocorticoid therapy, suggesting steroid-resistant disease. Renal biopsy was consistent with membranous nephropathy. Mass spectrometry identified granular co-deposition of IgG and semaphorin 3B (Sema3B) along the glomerular basement membrane, establishing the diagnosis of Sema3B-associated membranous nephropathy. Treatment with glucocorticoids combined with tacrolimus led to a marked reduction in proteinuria, resolution of edema, and clinical stabilization over a three-month follow-up, with no recurrence. This case highlights that Sema3B-associated membranous nephropathy may occur after hematopoietic stem cell transplantation in children and underscores the importance of precise diagnostics in pediatric nephropathies. Future multicenter studies are needed to clarify disease course and genetic susceptibility, develop specific biomarkers and therapies, promote individualized treatment, and improve prognosis.
A 13-year-old boy with Bartonella henselae meningitis is reported. He presented with recurrent fever with no history of cat scratches and no lymphadenopathy. Cerebrospinal fluid analysis showed an elevated white blood cell count, and Bartonella henselae infection was confirmed by metagenomic next-generation sequencing. Bone marrow examination revealed hemophagocytosis predominantly involving nucleated erythrocytes; to our knowledge, this bone marrow morphological abnormality is the first reported worldwide in association with Bartonella henselae infection. Transient bilateral hip pain occurred during the illness and was considered infection-related joint involvement. The patient improved with treatment and had no neurological sequelae. This case expands the spectrum of clinical and bone marrow manifestations of Bartonella henselae infection and warrants vigilance for possible central nervous system and bone marrow involvement in cases of fever of infectious etiology presenting without typical lymphadenopathy.
The number of women with gestational obesity has been increasing year by year and is a serious global challenge. Maternal obesity during pregnancy not only leads to gestational diabetes, hypertension, preterm birth, and miscarriage, but also adversely affects offspring growth and development after birth by increasing the risk of offspring obesity and other metabolic diseases. Changes in the maternal gut microbiota during pregnancy and delivery play important roles, and microbiota-derived metabolites are closely related to the metabolic regulation of obesity. This review summarizes the potential mechanisms by which the maternal gut microbiota in gestational obesity influences offspring, aiming to deepen understanding of how maternal gut microbiota affects offspring and to provide research targets and ideas for clinical intervention.
Artificial intelligence (AI) technology is developing rapidly in the medical field, particularly showing significant clinical value in the diagnosis and management of diseases in preterm infants. Preterm infants have immature organ development and a high incidence of complications; early prediction, accurate diagnosis, and individualized treatment pose major clinical challenges. With its powerful data processing and pattern recognition capabilities, AI provides new solutions for the diagnosis and management of diseases in preterm infants. It is now widely applied to the prediction of complications, imaging diagnosis, optimization of treatment plans, and prognostic evaluation for preterm infants, significantly improving diagnostic and therapeutic efficiency and accuracy. However, limitations remain in the clinical application, including data quality, model interpretability, and ethical issues. This article reviews the research progress of AI in the diagnosis and management of diseases in preterm infants, discusses its application advantages, challenges, and future directions, aiming to provide a reference for clinical practice and related research.
Gastroesophageal reflux disease (GERD) in infants and young children is a common digestive disorder with diverse clinical manifestations that often overlap with physiological reflux and behavioral expressions, creating diagnostic challenges. Comprehensive searches were conducted in English- and Chinese-language databases, including PubMed, Web of Science, China National Knowledge Infrastructure, and Wanfang Data, to review the epidemiological characteristics, clinical presentations, and impacts of GERD on children and their families. Particular emphasis is placed on four principal assessment tools [Infant Gastroesophageal Reflux Questionnaire (I-GERQ), GERD Symptom Questionnaire for Infants/Young Children (GSQ-I/YC), I-GERQ Revised (I-GERQ-R), and Gastrointestinal and Gastroesophageal Reflux Scale for Infants and Toddlers (GIGER)], appraising their development background, structural characteristics, reliability, validity, and clinical application value. The aim is to support early identification, standardized assessment, and individualized management of GERD in infants and young children. Evidence indicates that the I-GERQ-R shows high specificity, good reliability and validity, and cross-cultural applicability, and is currently recommended for symptom assessment and treatment-response monitoring in GERD among infants and young children, while the GIGER scale shows potential for comprehensive screening. Future research should prioritize translation and development of Chinese versions of GERD questionnaires for infants and young children, as well as the establishment of a multidimensional assessment system.