The broad-spectrum diagnostic framework for autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) tends to obscure the specific medical and support needs of individuals with severe impairments. In response, the Lancet Commission on the future of care and clinical research in autism proposed the concept of "profound autism" in 2021, referring to individuals with ASD who are aged 8 years or older, have severe intellectual disabilities (IQ < 50) and/or minimal or completely absent verbal communication abilities, and require round-the-clock (24-hour) care. Patients with profound autism often present with occult somatic comorbidities and treatment-resistant psychiatric abnormalities, including life-threatening self-injurious behavior and catatonia, which frequently render traditional stepped-care interventions ineffective. This review systematically summarizes the conceptual definition and clinical phenotypes of profound autism and emphasizes the need to shift the intervention focus toward managing serious comorbidities and establishing augmentative and alternative communication systems. Additionally, the potential application of modified electroconvulsive therapy as a salvage treatment for refractory and life-threatening symptoms is discussed. The aim is to provide evidence-based guidance for multidisciplinary management and the construction of comprehensive lifespan support systems for individuals with profound autism.

Pediatric respiratory diseases are significantly associated with growth impairment. Through core pathways including chronic hypoxia, systemic inflammation, metabolic dysregulation, and pharmacological interference, these conditions suppress the growth hormone-insulin‑like growth factor axis and peripheral signaling, resulting in growth retardation. This article summarizes mechanistic advances regarding growth impairment in obstructive sleep apnea, asthma, chronic lung injury, and recurrent respiratory infections. Accordingly, it discusses intervention strategies encompassing growth monitoring, etiology‑targeted therapy, and the standardized use of growth hormone, while highlighting differences from the management of idiopathic short stature. The aim is to elucidate the underlying pathophysiology and provide evidence to optimize clinical management and improve growth outcomes.

Objective To explore associations between growth retardation and perinatal factors in preterm infants. Methods Length data of 3 228 measurements from 1 313 preterm infants aged under 2 years of age were retrospectively collected from the Child Health Management System of the Department of Pediatrics, Renmin Hospital of Wuhan University, between January 2018 and December 2025. Length was compared across groups stratified by perinatal factors. Associations between perinatal factors and growth retardation were analyzed. Results Significant differences in length were found among subgroups stratified by sex, gestational age, birth weight, and weight-for-gestational age (P<0.05). The prevalence of growth retardation was 29.77% (961/3 228). Stepwise multivariable logistic regression identified gestational age ≥ 32 weeks, birth weight ≥ 1 000 g, female sex, history of mild birth asphyxia, and maternal age at delivery ≥ 35 years as independent protective factors against growth retardation (P<0.05). Conclusions Growth retardation in preterm infants is influenced by multiple perinatal factors, such as gestational age, birth weight, sex, and maternal age at delivery. Individualized management strategies should be developed for preterm infants.

Objective To evaluate the necessity of routine fluconazole prophylaxis in very preterm infants/very low birth weight (VLBW) infants in neonatal intensive care units (NICUs) with a very low incidence of late-onset invasive fungal infection (IFI), and to inform clinical practice. Methods A retrospective cohort study using propensity score matching was conducted including eligible very preterm infants/VLBW infants admitted to the NICUs of West China Second Hospital, Sichuan University and Sichuan Provincial Children's Hospital from January 2018 to December 2023. Infants were categorized into fluconazole and non-fluconazole groups according whether they received fluconazole prophylaxis. The primary outcome was the incidence of late-onset IFI. Results A total of 1 961 infants were enrolled, with an overall late-onset IFI incidence of 0.25% (5/1 961). After propensity score matching, 442 infants were included in each group. No statistically significant differences were observed between the fluconazole and non-fluconazole groups in the incidence of late-onset IFI (0.45% vs 0.23%), mortality (2.04% vs 0.90%), retinopathy of prematurity requiring surgery (6.11% vs 4.98%), intraventricular hemorrhage grade ≥2 (9.28% vs 6.56%), necrotizing enterocolitis stage ≥2 (10.18% vs 8.14%), or bronchopulmonary dysplasia (36.20% vs 36.88%), nor in length of hospital stay (48.5 days vs 50.5 days) (all P>0.05). Conclusions In NICUs with a very low incidence of late-onset IFI, routine fluconazole prophylaxis is not recommended for very preterm infants/VLBW infants.

Objective To investigate the synergistic preventive effect of Saccharomyces boulardii combined with Bifidobacterium quadruple viable preparation (BQP) on antibiotic-associated diarrhea (AAD) in infants and young children, aiming to provide evidence for optimizing probiotic intervention strategies in clinical practice. Methods A prospective, randomized, parallel controlled trial enrolled hospitalized children aged 1-36 months requiring antibiotic treatment from October 2023 to June 2025. Participants were randomly assigned to four groups: control (no probiotic; n=59), Saccharomyces boulardii (Saccharomyces boulardii powder; n=59), BQP (BQP tablets; n=58), and combined group (Saccharomyces boulardii powder plus BQP tablets; n=60). Probiotic interventions were administered from antibiotic initiation until 7 days after discontinuation. The primary outcome was the incidence of AAD during treatment. Secondary outcomes included diarrhea duration, fecal microbiota composition (16S rRNA sequencing), inflammatory markers (fecal calprotectin, serum interleukin-6), and safety. Follow-up continued until 30 days after probiotic cessation. Results The combined group showed a significantly lower AAD incidence (7%) compared to the Saccharomyces boulardii group (15%), BQP group (17%), and control group (31%) (P<0.0083). On the 30th day after probiotic cessation, the combined group demonstrated a significantly higher Shannon diversity index than the other three groups (P<0.05); relative abundances of Bifidobacterium and Lactobacillus in feces were significantly higher in the combined group than the other three groups (P<0.05), while the relative abundances of Enterococcus weresignificantly lower than in the other three groups (P<0.05). On the 7th day after antibiotic cessation, the combined group showed significantly lower levels of inflammatory markers compared to the other three groups (P<0.05). Adverse event rates did not differ significantly among groups (P>0.05). Conclusions The combination of Saccharomyces boulardii and BQP prevents AAD in infants and young children more effectively than a single probiotic regimen, potentially through synergistic enhancement of beneficial bacterial colonization and accelerated gut microbiota restoration. This combined probiotic regimen warrants clinical promotion.

Objective To investigate the incidence, genetic mutation characteristics, and prognosis of fatty acid oxidation disorder (FAOD) in neonates in Qingdao. Methods Clinical data of neonates diagnosed with FAOD from 2014 to 2023 at the Qingdao Neonatal Disease Screening Center were collected and analyzed to determine the incidence, genotype, and prognosis. Results Among 562 225 neonates screened, 42 were diagnosed with FAOD across six types, yielding an overall incidence of 1/13 386. Primary carnitine deficiency was the most common (20 cases, 48%), with one case showing growth retardation during follow-up. Medium-chain acyl-CoA dehydrogenase deficiency was identified in 6 cases, all of whom demonstrated normal development during follow-up. Short-chain acyl-CoA dehydrogenase deficiency was diagnosed in 5 cases, with one case exhibiting skin erythema, papules, scaling, and dryness during follow-up. Very-long-chain acyl-CoA dehydrogenase deficiency was diagnosed in 5 cases; during follow-up, one patient died and another experienced recurrent rhabdomyolysis. Short/branched-chain acyl-CoA dehydrogenase deficiency was found in 4 cases, with one case showing language regression during follow-up. Multiple acyl-CoA dehydrogenase deficiency was detected in 2 cases; during follow-up, one patient died and one exhibited delayed motor development. Genetic testing performed on 37 of the 42 patients with FAOD identified a hotspot mutation, c.1400C>G, in the SLC22A5 gene among those with primary carnitine deficiency, whereas no predominant hotspot mutations were detected in other FAOD subtypes. Conclusions In Qingdao, primary carnitine deficiency is the most prevalent subtypes of FAOD in neonates, characterized by the hotspot mutation c.1400C>G in the SLC22A5 gene. Except for very-long-chain acyl-CoA dehydrogenase deficiency and multiple acyl-CoA dehydrogenase deficiency, most children with other FAOD subtypes have a favorable prognosis.

Objective To study the clinical manifestations and genetic characteristics of CHARGE syndrome (CS) in neonates with CHD7 gene variants. Methods A retrospective analysis was performed on 7 neonates with CS who were diagnosed and treated at Anhui ProvincialChildren's Hospital from March 2019 to August 2025. Genetic sequencing was conducted on the neonates and their parents. Results All 7 neonates presented within 2 days of birth. Five presented with respiratory distress as the primary complaint; six had patent ductus arteriosus (PDA); and all 7 had an atrial septal defect (ASD), dysphagia, and external ear malformations. Three exhibited ocular abnormalities, including congenital cataracts, optic nerve hypoplasia, and optic disc hypoplasia. Five neonates died during the neonatal period; one died at 1 year 9 months of age from severe pneumonia; one was followed up to 4 months of age and remained unable to feed orally, relying entirely on nasogastric tube feeding. All 7 neonates harbored de novo heterozygous CHD7 variants, including five novel variants not previously reported: c.5608-1G>A, c.687del, c.481C>T, c.3378G>C, and an 8q12.1-q12.3 deletion (950.29 kb). Conclusions CS presents with complex and diverse clinical features. Neonates exhibiting multisystem abnormalities such as feeding difficulties, respiratory distress, and external ear deformities warrant suspicion of CS. Early genetic testing facilitates identification of causative variants and provides essential information for genetic counseling. The novel CHD7 variants identified in this study expand the mutation spectrum of CS in China.

Objective To increase the breastfeeding rate of very preterm infants in the neonatal intensive care unit (NICU). Methods The baseline period was January to December 2023, during which the breastfeeding rate for very preterm infants in the NICU of Cangzhou People's Hospital was 75%. The quality improvement period was January to December 2024, with a target to increase the rate by 10 percentage points. Effective improvement measures were identified using the plan-do-study-act (PDSA) cycle. Reasons for not receiving breast milk were analyzed, and a key driver diagram was constructed to guide targeted actions. A run chart was used to dynamically monitor monthly breastfeeding rates until the quality improvement goal was achieved. Results Seventy very preterm infants were included in the baseline group and 72 in the intervention group. The run chart showed that breastfeeding rate increased to 89% after implementation of the improvement measures, an increase of 14 percentage points from baseline, showing a statistically significant difference (P=0.039). No severe adverse events related to kangaroo care or donor milk-associated infections were reported. Conclusions Multidimensional quality improvement strategies based on the PDSA cycle significantly increase the breastfeeding rate of very preterm infants in the NICU.

Objective To assess the institutional development and human resources of newborn screening in China in the new era, with the aim of promoting nationwide program development. Methods Data on the number, area, organizational model, year of screening initiation, staffing composition, and training status of newborn screening centers across provinces from 2017 to 2021 were collected and analyzed for regional comparison. Results Newborn screening centers were present in all provinces. Organizational models were primarily provincial-centered, city-centered, or joint provincial-city-centered. Screening modalities mainly included basic screening for inherited metabolic diseases and screening by tandem mass spectrometry. The primary target conditions were congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase deficiency. Screening was initiated earliest in the eastern region, and the outpatient and laboratory areas of screening institutions there were larger than those in other regions. The professional ranks of physicians, nurses, and laboratory technicians engaged in newborn screening were mainly at the intermediate level, and their educational attainment was predominantly at the undergraduate level. Overall, nurses held lower professional ranks and had lower educational levels compared with physicians. Training participation rates for physicians, nurses, and laboratory technicians were 82.83%, 72.41%, and 86.31%, respectively; training qualification rates were 95.38%, 88.89%, and 96.29%, respectively. Conclusions Further optimization of organizational models is needed to consolidate the institutional foundation of newborn screening and to improve the educational attainment and professional ranks of physicians, nurses, and laboratory technicians. Particularly in the central and western regions, ongoing efforts are needed to continuously improve training qualification rates. Maintaining stable development of newborn screening nationwide and balancing development among eastern, central, and western regions remain key priorities.

Objective To investigate the clinical characteristics, diagnostic approach, multidisciplinary diagnosis and treatment model, and anticoagulation strategies of venous thrombotic disease in children, summarize diagnosis and treatment experience, and provide a reference for improving standardized management of this condition. Methods A retrospective analysis was conducted on clinical data of 40 children with venous thrombotic disease managed by the multidisciplinary team (MDT) at Shenzhen Children's Hospital. Data included demographic characteristics, underlying diseases, risk factors, clinical manifestations, diagnostic procedures, anticoagulation regimens, and clinical outcomes. Results Among the 40 children, the most common risk factor was central venous catheter placement (42%), and the most frequent underlying diseases were malignant tumors (30%) and severe infections (25%). Clinical manifestations were diverse and often insidious, frequently masked by primary diseases. All cases were confirmed by imaging examinations. Anticoagulation mainly involved low-molecular-weight heparin and warfarin, with some patients receiving oral anticoagulants. Following MDT management and individualized anticoagulation therapy, the overall recanalization rate was 98%, the incidence of bleeding was 5%, and no major bleeding events occurred. Conclusions Venous thrombotic disease in children commonly occurs secondary to severe underlying conditions and presents with atypical clinical features, requiring increased diagnostic vigilance. A diagnosis and treatment model centered on an MDT, combined with individualized anticoagulation therapy, effectively improves prognosis and represents an effective strategy for managing these complex cases.

Objective To study the clinical characteristics, treatment outcomes, and CYP11B1 gene mutation spectrum in Uyghur children with 11β-hydroxylase deficiency (11β-OHD) in Xinjiang, and to explore the ethnic-specific features of genotypes and clinical phenotypes. Methods Clinical, laboratory, genetic, and follow-up data of 10 Uyghur children diagnosed with 11β-OHD at the Department of Pediatrics of the First Affiliated Hospital of Xinjiang Medical University from September 2015 to September 2025 were retrospectively analyzed. Results The median age at diagnosis was 3.85 years; 7 patients were 46,XX (including 3 raised as males) and 3 were 46,XY; parental consanguinity was observed in 4 cases. All patients had elevated adrenocorticotropic hormone, testosterone, and 17α-hydroxyprogesterone levels. Eight children had advanced bone age. Four children had hypertension, with a median age at onset of 8.8 years. Eight distinct CYP11B1 variants were identified; homozygous variants predominated (8/10). Three novel variants were detected, among which c.715_731del (p.F239fs) was the most frequent (3/10). After glucocorticoid and symptomatic treatment, blood pressure in the 4 hypertensive patients and endocrine hormone levels in all 10 patients improved significantly (P<0.05), while the height standard deviation score for bone age showed no significant change (P>0.05). Conclusions Uyghur children with 11β-OHD in Xinjiang may have a unique CYP11B1 mutation spectrum. The high prevalence of homozygous variants likely relates to the high rate of consanguineous marriage in this population. The c.715_731del variant may represent a founder mutation. Advanced bone age and hyperandrogenemia are key clues for early diagnosis.

Objective To determine serum anti-Müllerian hormone (AMH) and inhibin-B (INHB) levels in children with Turner syndrome (TS) across different karyotypes, and to assess their value in ovarian reserve assessment. Methods Clinical data of 79 girls with TS (divided into monosomy, mosaic, and other karyotype groups) and 50 healthy girls (control group) were retrospectively analyzed. Differences among groups were compared. Correlations of AMH and INHB with sex hormones, ovarian volume, and spontaneous puberty were analyzed. Receiver operating characteristic (ROC) curves were used to evaluate the predictive efficacy of AMH and INHB for ovarian reserve function. Results Serum AMH and INHB levels, as well as ovarian and uterine volumes, were significantly lower in the TS group than in the control group (P<0.001), while follicle-stimulating hormone (FSH) levels were significantly higher (P<0.001). The mosaic group had significantly higher AMH and INHB levels than the monosomy and other karyotype groups (P<0.05). Girls with spontaneous puberty showed higher AMH and INHB levels than those without (P<0.05). AMH levels were negatively correlated with luteinizing hormone (LH) and FSH (P<0.05), and positively correlated with ovarian volume (P<0.05). The area under the ROC curve of AMH for predicting ovarian reserve function was 0.748 (95%CI: 0.615-0.853, P<0.001), with an optimal cutoff value of 0.225 ng/mL and specificity of 95.5%. The area under the ROC curve of INHB was 0.659 (95%CI: 0.521-0.787, P=0.015). Conclusions Serum AMH and INHB levels in children with TS correlate with karyotype and spontaneous puberty. AMH is a superior indicator for assessing ovarian reserve function in these children.

Objective To investigate the clinical features, prognosis, and factors associated with influenza-associated encephalopathy (IAE) in children. Methods Clinical data of 186 children hospitalized with influenza and neurological symptoms at the Children's Hospital of Chongqing Medical University from January 2015 to December 2025 were retrospectively analyzed. Based on whether they met the diagnostic criteria for acute encephalopathy, patients were divided into the IAE group and the non-IAE group. Clinical manifestations, laboratory findings, neuroimaging characteristics, treatment, and outcomes were compared between the two groups. Results The IAE group included 58 patients (31.2%), with seizures and persistent disturbance of consciousness as the main neurological manifestations (40 cases each, 69.0%). Compared with the non-IAE group, the IAE group had an older age at onset and higher rates of electroencephalographic and neuroimaging abnormalities (P<0.05), with significantly more frequent involvement of deep brain structures including the thalamus, basal ganglia, and brainstem (P<0.001). In the IAE group, 7 patients (12.1%) died during hospitalization, and 12(20.7%) had neurological sequelae at discharge. At a median follow-up of 12 months, the incidences of motor, language, and cognitive dysfunctions, as well as the rate of poor long-term prognosis, were significantly higher in the IAE group (P<0.05). Multivariable logistic regression analysis showed that older age (OR=1.19) and elevated serum lactate dehydrogenase (OR=1.01) were positively associated with the occurrence of IAE (both P<0.05). Conclusions Pediatric IAE is characterized by seizures and persistent disturbance of consciousness, with a predilection for deep brain structures and a high risk of poor prognosis. Older age and elevated serum lactate dehydrogenase are closely associated with the development of IAE.

Objective To establish a genotype-phenotype database and machine learning models for pseudohypertrophic muscular dystrophy (PMD), and to explore genotype-phenotype correlations of the disease. Methods Clinical data of children with PMD admitted to Xiangya Hospital, Central South University from January 2010 to December 2024, together with cases retrieved from the PubMed database between January 1987 and December 2024, were retrospectively collected to construct a genotype-phenotype database, with an online query function via a WeChat mini-program. Based on this database, Random Forest, Extreme Gradient Boosting, and Light Gradient Boosting Machine algorithms were integrated using a soft voting ensemble strategy to build a machine learning model predicting clinical phenotypes associated with small variants. The predictive performance of the model was compared with that of the reading-frame rule. The model was deployed online via the Streamlit platform. Results The database included 17 053 PMD cases, comprising 472 patients in the local cohort and 16 581 literature-derived cases. Modeling and validation were performed on a filtered dataset comprising small variants. In the internal test set, the machine learning model achieved an area under the receiver operating characteristic curve (AUC) of 0.924 (95%CI: 0.881-0.963), significantly higher than the reading-frame rule AUC of 0.652 (95%CI: 0.591-0.717) (P<0.001). In the external test set, the machine learning model achieved an AUC of 0.854 (95%CI: 0.736-1.000), compared to 0.667 (95%CI: 0.500-1.000) for the reading-frame rule, with no statistically significant difference (P>0.05). Conclusions The constructed PMD genotype-phenotype database and machine learning prediction model provide an efficient and reliable novel tool for phenotype prediction in PMD.

Objective Based on data from the Global Burden of Disease Study (GBD) 2021, this study aims to analyze trends in myocarditis among children and adolescents aged 0-19 years in China from 1990 to 2021 and predicts the disease burden trends from 2025 to 2050. Methods Data on incidence, prevalence, mortality, and disability-adjusted life year (DALY) of myocarditis in the Chinese population aged 0-19 years were extracted from the GBD 2021 database. Joinpoint regression was used to estimate annual percent change. The GBD comparative risk assessment framework was used to quantify four categories of risk factors: environmental/occupational risks, non-optimal temperature, high temperature, and low temperature. The ARIMA model was applied to forecast the disease burden trends from 2025 to 2050. Results From 1990 to 2021, the age-standardized prevalence rate of myocarditis in Chinese children and adolescents aged 0-19 years increased, while the age-standardized incidence rate, age-standardized DALY rate, and age-standardized mortality rate decreased. The overall disease burden in China exceeded the global average and that of regions with a middle socio-demographic index. Males had a higher disease burden than females. In 2021, non-optimal temperature and environmental/occupational risks collectively accounted for 66.4% of the disease burden, and DALYs and mortality attributable to high temperature showed an increasing trend. ARIMA model projections indicate that by 2050, the overall incidence of myocarditis will remain stable, whereas DALYs and mortality in the 5-9-year age group are expected to increase among Chinese children and adolescents aged 0-19 years. Conclusions In China, the age-standardized prevalence of myocarditis among children and adolescents aged 0-19 years increased continuously from 1990 to 2021, and males had higher values across all burden metrics than females. Projections for 2025-2050 suggest that the overall incidence of myocarditis will remain stable, whereas the disability and mortality burden in the 5-9-year age group will rise. An age- and sex-stratified prevention and control system should be established, and protection against extreme temperatures should be incorporated into the national strategy for children's cardiovascular health.

Objective To investigate the protective effects and underlying mechanisms of berberine (BBR) on brain injury related to neonatal necrotizing enterocolitis (NEC). Methods An NEC mouse model was established and mice were assigned to control, model, low-dose BBR (2.5 mg/kg), and high-dose BBR (5 mg/kg) groups (n=24 per group). Body weight and survival were recorded. Hematoxylin-eosin staining was performed to assess pathological damage in intestinal and brain tissues; Nissl staining was performed to evaluate neuronal injury in the hippocampus; immunohistochemistry was conducted to detect microglial activation in the hippocampus. Lipopolysaccharide (LPS) levels in the intestine and brain were measured by ELISA. Western blot and quantitative PCR were used to quantify the protein and mRNA expression of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and interleukin-1β (IL-1β) in brain tissue. Western blot was further used to examine the protein expression related to the TLR4/MyD88/NF-κB signaling pathway, NLRP3 inflammasome, and blood-brain barrier (BBB) tight junction proteins (ZO-1, Occludin, Claudin-5). Neurobehavioral functions were evaluated by the open field, novel object recognition, Y-maze, and Morris water maze tests. In vitro, BV2 microglial cells were divided into control, LPS, LPS+BBR, or LPS+TAK-242 (TLR4 inhibitor) groups (n=3 per group). Cell viability was assessed by CCK-8 assay and inflammatory signaling proteins were measured by Western blot. Results Compared with the model group, both BBR doses alleviated intestinal and brain pathology; the intestinal pathology score, escape latency on days 3 to 5, number of activated microglia (immunoreactive for ionized calcium-binding adaptor molecule 1), and TNF-α, IL-6, IL-1β mRNA/protein levels decreased significantly (P<0.05), while the spontaneous alternation rate increased (P<0.05). High-dose BBR reduced intestinal and brain LPS levels and downregulated the TLR4/MyD88/NF-κB pathway and NLRP3 inflammasome-related protein expression in the brain (P<0.05). During days 1 to 3 after NEC induction, body weight, central zone movement distance, central zone residence time, recognition index in the testing phase, platform crossings, percentage of time spent in the target quadrant, and expression of BBB tight junction proteins increased significantly in the high-dose group (P<0.05). In vitro, LPS+BBR and LPS+TAK-242 treatments reduced the protein expression related to the TLR4/MyD88/NF-κB pathway and NLRP3 inflammasome compared with LPS alone (P<0.05). Conclusions BBR can alleviate brain injury in NEC model mice and improve long-term neurological outcomes dose-dependently. These effects likely involve preservation of BBB integrity and suppression of microglial activation via inhibition of the TLR4/MyD88/NF-κB/NLRP3 signaling pathway.

The clinical data of 4 pediatric patients with collagenous gastritis (CG) diagnosed at the Department of Pediatrics of Peking University Third Hospital between January 2021 and October 2025 were retrospectively analyzed. The median age at onset was 10.8 years. All patients presented with iron-deficiency anemia, and two also experienced abdominal pain. Gastroscopy in all cases revealed a nodular gastric mucosal appearance. Histopathological examination confirmed subepithelial collagen band thickness greater than 10 μm in all patients, with varied patterns of inflammatory infiltrate, including two cases with eosinophil-predominant inflammation and one with lymphocytic gastritis. Two patients were found to have collagenous duodenitis, while none showed collagenous colitis. Serological testing identified one patient with low-titer positive antinuclear antibodies and another with elevated gastrin-17 levels. Treatment consisted of iron supplementation in all cases, combined with gastric mucosal protectants in three patients and glucocorticoid therapy in one patient. Follow-up of three patients showed clinical improvement with resolution of anemia, and two also demonstrated histological improvement with reduced gastric inflammation and collagen deposition. Pediatric CG is characterized primarily by iron-deficiency anemia and nodular gastric mucosal changes, accompanied by duodenal involvement in some patients. These findings underline the importance of a comprehensive evaluation of the entire gastrointestinal tract. Diagnosis relies on distinct endoscopic and pathological features, while attention should also be paid to potential biomarkers. A combined treatment approach, including iron supplementation, mucosal protection, and glucocorticoids when necessary, may lead to clinical and histological remission.

Congenital heart disease (CHD) is the most common birth defect, with a complex pathogenesis involving genetic, environmental, and signaling pathway abnormalities. The Hippo signaling pathway is an evolutionarily conserved key regulator of organ size and tissue homeostasis. Its core components mammalian sterile 20-like kinase 1/2 and large tumor suppressor kinase 1/2 phosphorylate the downstream effectors YAP/TAZ, regulating cell proliferation, differentiation, and apoptosis. Dysfunction of the Hippo pathway is closely related to the occurrence and development of multiple CHD types. This review summarizes the core components and regulatory mechanisms of the Hippo pathway, describes its role in cardiac development, and elucidates the molecular mechanisms by which it contributes to ventricular septal defect, tetralogy of Fallot, and left ventricular noncompaction cardiomyopathy, aiming to provide a new theoretical basis for the early diagnosis and treatment of CHD.

Constipation in children is a common functional gastrointestinal disorder that seriously affects quality of life and physical and mental health. Traditional research methods have limitations, making it difficult to fully elucidate the complex etiology and individual variability of constipation. In recent years, metabolomics, as an important branch of systems biology, has been widely applied to the study of pediatric constipation by systematic analysis of various metabolites. This review summarizes the application of metabolomics technologies in pediatric constipation research, focusing on characteristic changes in metabolite profiles and regulatory mechanisms of related metabolic pathways in children with constipation, and evaluates potential pathogenic mechanisms and therapeutic targets. It aims to provide a theoretical basis for individualized treatment of pediatric constipation and to point out future research directions.

Pediatric inflammatory bowel disease (PIBD) is a chronic immune-mediated inflammatory disorder of the gastrointestinal tract, with a steadily increasing global incidence. Growth retardation is one of the most common extraintestinal complications of PIBD, especially in children with Crohn's disease, severely affecting their quality of life and final adult height. The pathogenesis of this complication is complex, involving chronic intestinal inflammation, malnutrition, dysregulation of the endocrine axis, and adverse effects of glucocorticoid therapy. Current clinical management primarily focuses on controlling inflammation and optimizing nutrition, but some patients still experience persistent growth impairment. Recombinant human growth hormone (rhGH) directly promotes linear growth and its potential therapeutic value in PIBD has attracted increasing attention. This review summarizes the pathogenesis of PIBD-related growth retardation and outlines recent progress and clinical challenges in rhGH application in PIBD, aiming to provide a reference for the clinical management of PIBD-associated growth disorders.