A comprehensive retrieval, evaluation, selection, and integration of literature on allogeneic hematopoietic stem cell transplantation (allo-HSCT) for transfusion-dependent thalassemia (TDT) published over the past decade was conducted. For 10 clinical questions related to allo-HSCT in TDT, 26 recommendations were developed. The guideline aims to guide and standardize clinical diagnosis and treatment practices of allo-HSCT for TDT in China.

In recent years, immunotherapy and targeted therapy are reshaping the therapeutic paradigm of pediatric acute leukemia, shifting it from a protocol-driven era toward a strategy-oriented era. The significance is not only in improving remission rates, but also in achieving deeper measurable residual disease (MRD) clearance, enabling more precise risk stratification, reducing cumulative toxicity, and advancing standardized implementation with enhanced accessibility in real-world clinical practice. Integrating pivotal clinical studies, real-world evidence, and advances in drug approval and policy, this article proposes three core themes—deep remission, low toxicity, and high accessibility. It highlights MRD and molecular stratification as anchors for therapeutic decision-making, emphasizes optimizing combination and sequential strategies based on relapse mechanisms, and advocates strengthening long-term follow-up systems and improving access to diagnosis and treatment, aiming to shift clinical practice from efficacy improvement toward high-quality cure.

In 2022, China's National Health Commission issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022), which provides guidance and recommendations on overall pediatric blood requirements, blood for exchange transfusion, and the use of irradiated red blood cells, washed red blood cells, and fresh red blood cells. This article explains the rationale and evidence base underlying these recommendations to facilitate a clearer understanding of the guideline.

Objective To evaluate the safety of blinatumomab combined with dasatinib in children with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph⁺ ALL). Methods A retrospective review was conducted of clinical data for children with Ph⁺ ALL treated with blinatumomab plus dasatinib in the Department of Pediatrics, Peking University People's Hospital, from August 2023 to June 2025. Adverse events during therapy were recorded to assess safety. Results Ten children were included (7 boys, 3 girls), with a total of 13 instances of combination therapy. After treatment, BCR∶∶ABL1 transcript levels decreased from baseline or remained persistently negative. At a median follow-up of 13 months, all patients were alive without disease relapse. During treatment, dasatinib trough and peak plasma concentrations were not significantly affected (P>0.05). Major adverse events were as follows: hematologic toxicity (grade I-II: 77%; grade III-IV: 23%; median time to onset: 4 days; median duration: 7 days), cytokine release syndrome (all grade I; incidence: 61%; median time to onset: 3 days; duration: 2 days), neurotoxicity (grade I-II: 30%; grade III-IV: 7%; median time to onset: 3 days; duration: 1 day), and hypogammaglobulinemia (incidence: 90%; median time to onset: 13 days), with six patients requiring long-term intravenous immunoglobulin therapy. All adverse events resolved with supportive care, and no treatment-related deaths occurred. Conclusions Blinatumomab combined with dasatinib is well tolerated in pediatric Ph⁺ ALL, and the adverse events are manageable.

Objective To investigate the incidence of severe cancer therapy-related thrombocytopenia (CTRT) and associated factors in children. Methods A prospective observational study was conducted among 1 047 pediatric inpatients with cancer at Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicinefrom November 2023 to August 2024. Patients were divided into two groups based on the occurrence of severe CTRT. Multivariable logistic regression analysis was used to identify risk factors for severe CTRT. Results Severe CTRT occurred in 343 patients (32.76%). Multivariable logistic regression analysis showed that disease relapse, history of severe CTRT, nutritional risk, use of >3 antineoplastic agents, inclusion of platinum-based agents/cytarabine/anthracyclines in the regimen, and pre-treatment platelet count <100×10⁹/L were significantly associated with severe CTRT (P<0.05). Conclusions The incidence of severe CTRT in children is relatively high, and it is influenced by multiple factors including medical history (relapse, previous severe CTRT), treatment regimen (>3 antineoplastic agents, inclusion of platinum-based agents/cytarabine/anthracyclines), and health status (nutritional risk, pre-treatment platelet count <100×10⁹/L). High-risk children should be identified through comprehensive assessment of medical history, health condition, and treatment regimen to provide timely preventive and supportive care.

Objective To investigate differences in gut microbiota between very preterm infants with no/grade I bronchopulmonary dysplasia (BPD) and those with grade II/III BPD. Methods A prospective cohort study was conducted at Women and Children's Hospital, School of Medicine, Xiamen University from January 2023 to June 2024. Preterm infants with gestational age <32 weeks and birth weight <1 500 g were categorized into two groups: no/grade I BPD (n=52) and grade II/III BPD (n=41). Gut microbiota composition was compared using high-throughput sequencing. Results The grade II/III BPD group showed significantly increased relative abundances of Proteobacteria and Klebsiella, and significantly decreased relative abundances of Firmicutes, Bacteroidota, and Staphylococcus. No/grade I BPD infants showed no obvious temporal trend in gut microbiota changes. On postnatal day 21, the relative abundance of Streptococcus was significantly lower in the grade II/III BPD group than in the no/grade I BPD group (P=0.017). At 36 weeks of corrected gestational age, alpha diversity in the grade II/III BPD group was significantly lower than in the no/grade I BPD group (P<0.05). Principal coordinates analysis indicated a significant difference in overall gut microbiota composition between the groups at this time point (P=0.019). Conclusions Very preterm infants with grade Ⅱ/Ⅲ BPD show reduced gut microbial diversity early in life. A decrease in Streptococcus may be associated with grade II/III BPD.

Objective To investigate the effect of early transpyloric feeding (ETPF) on the risk of bronchopulmonary dysplasia (BPD) in very preterm/extremely preterm infants (gestational age <32 weeks). Methods A total of 87 very preterm/extremely preterm infants admitted to the Neonatal Intensive Care Unit of Xiamen Maternal and Child Health Hospital between April 2022 and December 2024 were included. According to the feeding tube placement method, infants were divided into an ETPF group (n=42) and an orogastric tube feeding (OGTF) group (n=45). Nutritional indicators, oxygen use, and the incidence of BPD were compared between the two groups. Multivariable logistic regression analysis was performed to evaluate the association between ETPF and the risk of BPD. Results Compared with the OGTF group, the ETPF group had a significantly lower incidence of feeding intolerance (P<0.05), higher milk volume and caloric intake at week 2 of hospitalization (P<0.05), and significantly shorter time to achieve full enteral feeding, time to reach an oral caloric intake of 110 kcal/(kg·d), and time to reach a total caloric intake of 110 kcal/(kg·d) (all P<0.05). The incidence of BPD was significantly lower in the ETPF group than in the OGTF group (P<0.05). Multivariable logistic regression analysis showed that ETPF was an independent factor associated with a reduced risk of BPD (OR=0.286, 95%CI: 0.089-0.922). Conclusions ETPF improves enteral feeding tolerance in very preterm/extremely preterm infants, enables earlier establishment of full enteral feeding, and reduces the risk of BPD.

Objective To study the association between adverse outcomes during hospitalization and early postnatal weight changes in term appropriate-for-gestational-age (AGA) infants with early-onset sepsis (EOS). Methods A retrospective study was conducted on clinical data of term AGA infants with EOS admitted to the Children's Hospital of Chongqing Medical University from January 2023 to September 2024. The infants were divided into a weight-gain group (weight difference > 0 kg; n=229) and a no-weight-gain group (weight difference ≤ 0 kg; n=131) based on the change in weight from birth to postnatal day 7, and the incidence of adverse outcomes during hospitalization was compared between groups. Results Length of hospital stay, duration of antibiotic use, and duration of mechanical ventilation in the weight-gain group were longer than those in the no-weight-gain group (P<0.05). The incidence of acute kidney injury, electrolyte imbalance, intracranial hemorrhage, patent ductus arteriosus, moderate-to-severe pulmonary arterial hypertension, and pulmonary hemorrhage was higher in the weight-gain group than in the no-weight-gain group (P<0.05). Daily net fluid balance on postnatal days 5 and 6, and cumulative net fluid balance on postnatal days 5-7, were higher in the weight-gain group than in the no-weight-gain group (P<0.05). Conclusions Early postnatal weight gain in term AGA infants with EOS is associated with an increased incidence of adverse outcomes during hospitalization, and weight change can serve as one of the indicators to assess neonatal fluid balance.

Objective To explore the relationship between fluid balance during the first 14 postnatal days and critical clinical complications in extremely low birth weight infants (ELBWIs), with the aim of reducing the impact of fluid overload on adverse outcomes. Methods Clinical data of 226 ELBWIs admitted to the neonatal intensive care unit of the Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University from January 2019 to December 2024 were retrospectively analyzed. Infants who developed severe bronchopulmonary dysplasia (sBPD) or died were classified as the critical complication group (n=99), and survivors with at most moderate BPD (none, mild, or moderate) were classified as the control group (n=127). Fluid balance indices were defined by the percentage change from birth weight. The association between fluid overload during the first 14 postnatal days and the occurrence of sBPD or death was evaluated. Results Univariate analysis showed that fluid balance on postnatal days 3, 7, 10, and 14, as well as weight loss <3% within the first 3 days and <6% within the first 7 days, was significantly associated with the occurrence of critical complications (all P<0.05). After adjustment for confounders in multivariable logistic regression, fluid overload on postnatal days 3, 7, 10, and 14 was a risk factor for critical complications (OR>1, P<0.05), and the risk of critical complications increased significantly when weight loss was <3% within the first 3 days (OR=5.213, 95%CI: 2.349-11.567) and <6% within the first 7 days (OR=3.920, 95%CI: 1.806-8.511). Conclusions In ELBWIs, early fluid overload may be associated with an increased risk of sBPD or death, and moderate fluid restriction may help improve prognosis; prospective studies are required for further validation.

Objective To investigate neurodevelopmental outcomes and associated risk factors in extremely preterm infants (EPIs) at 2-3 years of corrected age. Methods A retrospective study included EPIs (EPI group, n=122) at 2-3 years of corrected age who were followed at the High-Risk Infant Clinic of Shenzhen Maternity and Child Healthcare Hospital and normal full-term infants aged 2-3 years (term group; n=154) during the same period from January 2018 to December 2024. Neurodevelopmental outcomes were compared between groups, and risk factors for neurodevelopmental impairment (NDI) in EPIs were analyzed. Results The EPI group had a lower general developmental quotient and lower developmental quotients in gross motor, hand-eye coordination, and visual performance than the term group (P<0.05). In the EPI group, the proportions of no NDI, mild NDI, and moderate-to-severe NDI were 50.8% (62/122), 36.1% (44/122), and 13.1% (16/122), respectively; the proportions with cerebral palsy and global developmental delay were 2.5% (3/122) and 7.4% (9/122), respectively. The proportions of moderate-to-severe NDI and global developmental delay were higher in the EPI group than in the term group (P<0.05). The incidence of moderate-to-severe NDI did not differ between EPIs born at 22-24⁺⁶ weeks and those born at 25-27⁺⁶ weeks (P>0.05). Periventricular leukomalacia was a risk factor for moderate-to-severe NDI (OR=13.511, 95%CI: 1.370-133.235) in EPIs, whereas a higher 1-minute Apgar score was protective (OR=0.589, 95%CI: 0.437-0.795). Conclusions At 2-3 years of corrected age, EPIs have a lower general developmental quotient than term infants, with significant deficits in gross motor, hand-eye coordination, and visual performance. The proportion with NDI is relatively high; periventricular leukomalacia is an important risk factor, and a higher 1-minute Apgar score may confer neurodevelopmental benefits.

Objective To evaluate the diagnostic accuracy of tandem mass spectrometry (MS/MS) combined with artificial intelligence (AI) for neonatal methylmalonic acidemia (MMA), and to identify factors associated with diagnostic accuracy. Methods A total of 246 neonates with positive initial MMA screening at Qinhuangdao Maternal and Child Health Hospital from January 2019 to December 2024 were recalled for confirmatory testing. Using genetic diagnosis as the reference standard, all cases underwent MS/MS diagnosis, AI diagnosis, and combined diagnosis (MS/MS plus AI). Sensitivity, specificity, accuracy, and other diagnostic performance indices were calculated; agreement with genetic diagnosis was assessed; and multivariable logistic regression was performed to identify factors associated with diagnostic accuracy. Results The combined diagnosis yielded a sensitivity of 92.3%, a specificity of 97.0%, and an accuracy of 96.7%, with high agreement with genetic diagnosis (Kappa=0.733). The areas under the receiver operating characteristic curve for combined, MS/MS, and AI diagnoses were 0.914(95%CI: 0.867-0.935), 0.759(95%CI: 0.635-0.816), and 0.669(95%CI: 0.584-0.776), respectively; the area under the curve for the combined diagnosis was significantly higher than that for either MS/MS or AI alone (P<0.05). Lower levels of methionine, phenylalanine, ornithine, glycine, blood ammonia, and lactic acid, as well as abnormal electrophysiological findings, were independently associated with diagnostic accuracy (P<0.05). Conclusions MS/MS combined with AI shows high diagnostic accuracy for neonatal MMA. Lower levels of methionine, phenylalanine, ornithine, glycine, blood ammonia, and lactic acid and abnormal electrophysiological findings may affect the diagnostic accuracy of MMA.

Objective To analyze trends and future projections of lower respiratory infection (LRI) incidence and mortality among children in China from 1990 to 2021, and to compare etiological characteristics across age groups. Methods Epidemiological data for pediatric LRI in China from 1990 to 2021 were obtained from the Global Burden of Disease database. Comparative analyses examined trends and projections for China, the global population, and high socio-demographic index (SDI) regions. The influence of different pathogens on pediatric LRI in China was also assessed. Results From 1990 to 2021, the burden of LRI among children in China was lower than the global average but higher than that in high-SDI regions. Incidence and mortality rates showed a significant downward trend, with the most pronounced decline in children under 5 years of age, while the decline in LRI incidence among those aged 10-14 years was slower than the global level for the same age group. Projections for 2022-2040 indicated continued decreases in incidence and mortality of pediatric LRI in China. Bacterial infections remained the predominant cause of pediatric LRI in China. Marked age-specific differences in pathogen spectra were observed: viral LRI burden was higher in children under 5 years than in those aged 5-14 years, whereas the burden due to atypical pathogens was lower in children under 5 years than in those aged 5-14 years. Conclusions From 1990 to 2021, the overall burden of pediatric LRI in China shows a declining trend and is predicted to continue to decrease. The slower decline in LRI incidence among children aged 10-14 years compared with the global level indicates a weakness in prevention for this age group. Distinct age-specific pathogen profiles suggest the need for age-targeted interventions and continuous surveillance of pathogen spectra.

Objective To explore the clinical and genetic characteristics of children with salt-wasting (SW) 21-hydroxylase deficiency (21-OHD) in Henan Province. Methods Clinical characteristics, laboratory results, and genetic findings were retrospectively reviewed for 165 children with SW 21-OHD who presented to the Department of Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, from August 2007 to November 2023. Associations between clinical characteristics and genotypes were analyzed. Results Of the 165 patients, 100 were biologically male and 65 female. The median age at diagnosis was 40 days in males and 28 days in females. Skin and mucosal hyperpigmentation occurred in 155 patients (93.9%), vomiting in 151 patients (91.5%), and failure to gain weight in 153 patients (92.7%). All females had clitoral hypertrophy. At presentation, 161 (97.6%) had adrenal crisis. Hyperkalemia (serum potassium >5.5 mmol/L) was present in 83.0% (137/165), and hyponatremia (serum sodium <135 mmol/L) in 93.9% (155/165). Elevated adrenocorticotropic hormone (ACTH) occurred in 96.4% (159/165), decreased cortisol in 90.3% (149/165), and elevated testosterone and 17-hydroxyprogesterone (17-OHP) in 100% (165/165). Six patients with male social gender had a 46,XX karyotype. All patients carried homozygous or compound heterozygous pathogenic variants in CYP21A2; 330 variants representing 29 types were identified, with c.293-13A/C>G (37.3%) and large deletions (22.4%) being most common. Twenty patients carried recombinant alleles between CYP21A2 and CYP21A1P. Across genotype groups, serum potassium, sodium, ACTH, testosterone, and cortisol showed no statistically significant differences (P>0.05), whereas 17-OHP levels differed significantly (P<0.05). Conclusions SW 21-OHD typically presents with adrenal crisis. Hyperkalemia, hyponatremia, elevated 17-OHP, testosterone, and ACTH, together with decreased cortisol, support the diagnosis; definitive confirmation requires genetic testing. Genotype does not fully predict clinical phenotype.

Objective To study the effect and mechanism of geniposide (GE) on lipopolysaccharide (LPS)-induced inflammatory injury in human coronary artery endothelial cells (HCAECs). Methods HCAECs were randomly assigned to four groups: control (no treatment); model (LPS 20 ng/mL for 24 hours); GE (GE 30 μg/mL pretreatment for 12 hours, followed by LPS 20 ng/mL for 24 hours); and SIRT3 inhibitor (GE 40 μg/mL plus the SIRT3-specific inhibitor 3-TYP pretreatment for 12 hours, followed by LPS 20 ng/mL for 24 hours). Cell viability was assessed by CCK-8 assay. Lactate dehydrogenase (LDH) activity in culture medium and intracellular malondialdehyde (MDA), glutathione (GSH), and ferrous ion (Fe²⁺) levels were measured using commercial kits. Reactive oxygen species (ROS) were evaluated by DCFH-DA fluorescent probe method. Western blotting detected the protein expression of silent information regulator 3 (SIRT3), glutathione peroxidase 4 (GPX4), solute carrier family 7 member 11 (SLC7A11), and transferrin receptor 1 (TfR1). SIRT3 expression was examined by immunofluorescence staining. Results Compared with the control group, the model group showed decreased cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (P<0.05), with increased LDH activity, TfR1 protein expression, and MDA, Fe²⁺, and ROS levels (P<0.05). Compared with the model group, the GE group exhibited increased cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (P<0.05), and decreased LDH activity, TfR1 protein expression, and MDA, Fe²⁺, and ROS levels (P<0.05). Compared with the GE group, the SIRT3 inhibitor group showed reduced cell viability, GSH content, SIRT3 immunofluorescence intensity, and GPX4, SLC7A11, and SIRT3 protein expression (P<0.05), along with elevated LDH activity, TfR1 protein expression, and MDA, Fe²⁺, and ROS levels (P<0.05). Conclusions Geniposide alleviates LPS-induced inflammatory injury in HCAECs, and the mechanism may involve inhibition of ferroptosis and activation of SIRT3 signaling.

A male infant was admitted to the neonatal intensive care unit for respiratory distress 12 minutes after preterm birth. Prenatal fetal echocardiography suggested transposition of the great arteries with an intact ventricular septum. Amniocentesis and family-based whole-exome sequencing identified a heterozygous missense variant in SOX11 (c.152G>C, p.Arg51Pro), leading to a diagnosis of Coffin-Siris syndrome type 9. Postnatal echocardiography and computed tomography angiography confirmed Berry syndrome. Single-stage corrective surgery was performed with good recovery. This report presents the first documented case of Coffin-Siris syndrome type 9 complicated by Berry syndrome and identifies a previously unreported SOX11 variant, expanding the pathogenic phenotypic spectrum associated with this gene and suggesting its potential role in regulating cardiovascular development. These findings provide important evidence for genetic counseling and prenatal diagnosis and indicate that enhanced cardiovascular evaluation is warranted for fetuses carrying SOX11 variants to enable early identification of severe malformations such as Berry syndrome.

Patient 1 was a male neonate who, at 3 hours of life, presented with respiratory distress, hypotonia, and ventilator dependence. Genetic testing revealed a DMPK gene CTG repeat expansion (13/>83). Patient 2 was a male neonate who presented at 2 days of life after resuscitation for perinatal asphyxia, with hypotonia and ventilator dependence, complicated by hypoxic-ischemic encephalopathy and diaphragmatic eventration, which appears to represent the first such combination reported in China. Genetic testing showed a DMPK gene CTG repeat expansion (12/>83). Both cases were diagnosed with congenital myotonic dystrophy type 1. Congenital myotonic dystrophy type 1 is a rare and severe genetic disorder with low survival. When characteristic clinical manifestations appear, genetic testing and family counseling should be performed as early as possible to guide future pregnancies and reduce birth defects.

Bronchial asthma (asthma) is the most common chronic inflammatory airway disease in children. Traditional pharmacotherapy achieves a disease control rate of less than 60%, and limitations such as poor treatment adherence and drug-related adverse reactions exist. With the development of life-course health management, pediatric asthma care has shifted from single-drug therapy to diversified, comprehensive management that integrates non-pharmacological interventions. Studies indicate that approaches such as breathing training, exercise training, and music therapy can act synergistically with medications to improve symptom control, enhance quality of life, and optimize lung function indices. This review summarizes the classifications, current research status, clinical efficacy, and limitations of non-pharmacological therapies for pediatric asthma, providing a reference for the rational clinical implementation of these interventions.

B-cell acute lymphoblastic leukemia (B-ALL) is the most common hematologic malignancy in children. High-risk B-ALL, due to factors such as poor early treatment response and adverse genetic features, is prone to drug resistance and relapse, resulting in an unfavorable prognosis and posing a major clinical challenge. In recent years, risk stratification based on molecular subtyping has driven optimization of therapeutic strategies, and precision, individualized treatment has become the focus of clinical research and practice. This review summarizes the research progress in individualized therapy for pediatric high-risk B-ALL, with the aim of providing a theoretical basis for clinical diagnosis and treatment.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core features of social communication deficits and repetitive, stereotyped behaviors. Maternal environmental factors during pregnancy are considered important risk factors for ASD in offspring, with mechanisms involving dysbiosis of the maternal and offspring gut microbiota, immune dysregulation, metabolic abnormalities, and neuroinflammation. Specific probiotic interventions show potential during pregnancy and early life to prevent and ameliorate ASD by modulating gut microbiota composition, improving intestinal barrier function, and regulating inflammatory responses and neural signaling pathways. This review systematically summarizes, from a gut-brain axis perspective, the mechanisms by which maternal factors influence ASD risk in offspring and the potential intervention strategies, aiming to provide a theoretical basis and new research directions for the early prevention and intervention of ASD.

MicroRNAs (miRNAs) are endogenous noncoding RNAs involved in post-transcriptional regulation. miR-378a is highly expressed in skeletal muscle and plays important roles in myogenesis, maintenance of muscle homeostasis, and disease progression. Studies indicate that miR-378a participates in myogenic differentiation, energy metabolism, and muscle fiber-type switching by regulating molecules such as histone deacetylase 4 and mitogen-activated protein kinase 1. Dysregulated miR-378a is associated with muscle diseases: in Duchenne muscular dystrophy, its expression level negatively correlates with disease severity, and overexpression can ameliorate disease phenotypes; in limb-girdle muscular dystrophy type 3, rhabdomyosarcoma, sarcopenia, and spinal muscular atrophy, its potential value as a biomarker or therapeutic target has attracted increasing attention. This review summarizes the molecular characteristics of miR-378a and its roles in skeletal muscle development and related diseases, providing a reference for clinical translation.