Branchio-oto-renal syndrome (BORS) is a rare autosomal dominant disorder caused by mutations in the EYA1 gene, characterized by auricular malformations, branchial cleft anomalies, and renal lesions. Early identification and long-term management are critical for optimizing clinical outcomes. This study presents a 6-year diagnosis, treatment, and follow-up of a pediatric patient with BORS to enhance clinical understanding of the condition. Retrospective analysis was conducted on the patient’s clinical data, audiometric evaluations, imaging findings, genetic test results, therapeutic interventions, and follow-up records. The female patient was born with congenital auricular malformations and a cervical branchial fistula. Hearing loss was detected in infancy, progressing to end-stage renal disease (ESRD) during the preschool period. Genetic analysis identified a de novo heterozygous nonsense mutation c.986T>A (p.L329X) in the EYA1 gene, which was confirmed to be absent in both parents via Sanger sequencing. Laparoscopic peritoneal dialysis catheter placement was performed 2 years and 8 months after diagnosis, followed by initiation of continuous peritoneal dialysis. Over a follow-up period of 6 years and 2 months, the patient maintained stable renal function without secondary hypertension or severe dialysis-related complications, and overall quality of life was improved. For children with BORS, emphasis should be placed on early renal function monitoring, and timely initiation of renal replacement therapy can improve prognosis. Peritoneal dialysis is a safe and effective treatment option for children with BORS complicated by ESRD. The EYA1 gene mutation c.986T>A (p.L329X) reported in this study is a novel nonsense mutation, which enriches the mutational spectrum of BORS-causing genes.
Objective The correlation between patent foramen ovale (PFO) and unexplained migraine in children has attracted increasing attention, yet evidence regarding transcatheter PFO closure in pediatric populations remains limited. This retrospective cohort study aimed to investigate the association between occluder type (biodegradable occluder versus metallic occluder) and migraine relief, and to evaluate the clinical efficacy and safety of transcatheter PFO closure in children with migraine combined with PFO. Methods A total of 62 pediatric patients aged 6-18 years who underwent transcatheter PFO closure for recurrent migraine from January 2023 to June 2025 were retrospectively enrolled. Patients were divided into a biodegradable occluder group (biodegradable group, 12 cases) and a metallic occluder group (metallic group, 50 cases) according to the implanted occluder type, with the follow-up deadline set as December 2025. The primary outcome measure was the migraine relief rate at 6 months postoperatively, defined as a reduction in the Headache Impact Test-6 (HIT-6) score to less than 50 points. The secondary outcome measure was the incidence of adverse cardiovascular events. Intergroup comparisons were performed. Results No statistically significant intergroup differences were observed in baseline characteristics including gender, age, body weight, and preoperative migraine severity (all P>0.05). At 6 months after surgery, the overall migraine relief rate reached 83.9% (52/62), with rates of 86.0% (43/50) in the metallic group and 75.0% (9/12) in the biodegradable group. Taking the metallic group as the reference, the relative risk (RR) of migraine relief in the biodegradable group was 0.87 (95% confidence interval CI: 0.61-1.25), showing no statistically significant difference between groups (P>0.05). HIT-6 scores were significantly decreased in both groups compared with preoperative levels (P<0.05). No moderate-to-large residual shunts, occluder displacement, arrhythmias or other adverse cardiovascular events occurred in either group during follow-up, and the incidence of adverse events did not differ significantly between the two groups (P>0.05). Conclusion Transcatheter PFO closure is safe and effective for pediatric migraine patients refractory to medical therapy with confirmed right-to-left shunt. Biodegradable occluders demonstrate comparable short-term efficacy and safety to conventional metallic occluders. Given their biodegradable property, biodegradable occluders can serve as a preferred option for pediatric patients.
X-linked hypophosphatemic rickets (XLH) is a skeletal mineralization disorder characterized by hypophosphatemia, caused by pathogenic variants in the PHEX gene that lead to elevated levels of fibroblast growth factor 23 (FGF23), which in turn inhibits renal phosphate reabsorption. In children, XLH primarily manifests as lower limb-predominant skeletal deformities, growth retardation, short stature, bone and joint pain, and dental abscesses.The traditional treatment regimen for XLH consists of neutral phosphate combined with calcitriol. In 2018, burosumab was approved for the treatment of patients with XLH. Burosumab targets and binds to FGF23 to inhibit its activity, increases renal phosphate reabsorption, reduces urinary phosphate excretion, promotes intestinal phosphate absorption, elevates serum phosphorus levels, and improves skeletal mineralization function. It has gradually become the first-line treatment for XLH. However, XLH is currently incurable, and existing treatment regimens struggle to maintain normal serum phosphorus levels. Even after treatment, patients generally still have a shorter final height. Additionally, due to various issues including its high cost, burosumab is rarely used in China, and clinicians have limited understanding of the advances in the diagnosis and treatment of XLH. Currently, several drugs targeting FGFR, α-Klotho, and other molecules, that aim to inhibit the effects of elevated FGF23 levels, are under development and are expected to provide new therapeutic options for XLH. This article reviews the cutting-edge advances in the diagnosis and treatment of XLH to help readers grasp the current status and future directions of this field.
Objective To detect the concomitant gene variants other than the BCR::ABL1 fusion gene in pediatric patients diagnosed with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) using next-generation sequencing (NGS) technology, and to explore the correlation between these variations and early treatment response as well as prognosis. Methods A retrospective analysis was performed on the clinical data and NGS detected hematological malignancy-related genetic variation results of pediatric patients with newly diagnosed Ph+ ALL from January 2020 to July 2025. Based on the status of IKZF1 gene deletion and the presence of CDKN2A/B or PAX5 deletions, the patients were divided into three groups: IKZF1plus group, isolated IKZF1 group, and IKZF1 negative group. Early treatment response was evaluated by the negative conversion rate of minimal residual disease (MRD) on day 33 of induction chemotherapy and the achievement rate of major molecular response (MMR). Prognosis was assessed by the rate of event-free survival (EFS), disease-free survival (DFS), cumulative incidence of relapse (CIR), and overall survival (OS). Results A total of 25 pediatric patients with Ph+ ALL who underwent NGS detection, including 18 males (72%) and 7 females (28%), with a median age of 9 (4-16) years at initial diagnosis. Concomitant genetic abnormalities were detected in 21 patients (84%), among which IKZF1 deletion was the most prevalent, occurring in 18 cases (72%). Among all enrolled children, the MRD negative conversion rate on day 33 of induction chemotherapy was 40%, and the MMR achievement rate was 44%. The median follow-up duration was 38 months (range: 2-82 months). The 3-year EFS rate was 43.5%, the 3-year DFS rate was 81.2%, the 3-year CIR was 26.5%, and the 3-year OS rate reached 100%.Patients were stratified into three groups according to concomitant genetic profiles: the IKZF1plus group (3 cases, 12%), the isolated IKZF1 deletion group (15 cases, 60%), and the non-IKZF1 abnormality group (7 cases, 28%). No statistically significant differences were observed in baseline clinical characteristics among the three groups (P>0.05). There were no significant intergroup differences in the bone marrow MRD negative conversion rate and MMR achievement rate on day 33 of induction chemotherapy (χ2=2.90, χ2=0.87, P>0.05). Similarly, no statistical differences were found in EFS, DFS and CIR across the three cohorts (χ2=0.07, χ2=3.19, χ2=2.77, P>0.05). Conclusion NGS can efficiently delineate the genetic variation spectrum of pediatric Ph+ ALL patients. IKZF1 deletion was the most common genetic abnormality. Neither IKZF1 nor IKZF1plus subtype has a significant impact on early molecular remission and long term survival within the limited sample size and followup duration.
Although influenza has traditionally been considered a respiratory system-limited disease, severe influenza is often accompanied by multi-organ dysfunction. Extra-pulmonary influenza syndrome in children refers to systemic complications triggered by the influenza virus after it breaches the respiratory barrier, characterized by distinct pathological features. Based on pathogenesis, extrapulmonary influenza syndrome can be divided into two types: direct viral invasion (ectopic infection) and immune-mediated injury (represented primarily by acute necrotizing encephalopathy). The former involves epithelial barrier disruption, hematogenous dissemination, hemagglutinin-mediated tissue tropism, and host immune dysregulation; the latter is mainly driven by systemic inflammatory responses. Polymerase inhibitors show promise in reducing systemic viral load, and combination therapy with immunomodulation may improve clinical outcomes in high-risk pediatric patients. This review systematically summarizes the pathogenesis, clinical characteristics, and management strategies of extrapulmonary influenza syndrome in children, with a focus on distinguishing between the two pathological types—direct viral invasion and immune-mediated injury—to enhance early recognition and comprehensive management of this condition.
Intensive care unit-acquired weakness (ICU-AW) is a secondary neuromuscular syndrome occurring during critical illness, mainly manifesting as new-onset symmetrical limb weakness, muscle atrophy, and difficulty weaning from ventilation. This condition is well recognized in adult patients. However, there are few reports of ICU-AW in critically ill children, and awareness of the disease remains inadequate in the pediatric intensive care unit (PICU). Therefore, this article reviews the pediatric literature on ICU-AW and comprehensively summarizes the current academic understanding of pediatric ICU-AW in terms of epidemiology, risk factors, pathophysiology, diagnostic criteria and methods, and prevention and treatment. At this stage, research on pediatric ICU-AW is still insufficient with no unified diagnostic criteria, indicating that further clinical studies are required to deepen and unify the understanding of this disease. Reducing the risk factors for PICU-AW, as well as early mobilization, reduced sedation, and neuromuscular electrical stimulation therapy, may be effective measures for the prevention and treatment of PICU-AW.
Objective Atonic seizures occur without warning, and children with this condition may repeatedly fall, seriously affecting their safety and quality of life. Accurate diagnosis and management of atonic seizures are rather difficult, and the electroencephalography (EEG) and electromyography (EMG) features during the seizure period are the gold standard for differential diagnosis. This study summarizes the clinical, EEG, and EMG characteristics, treatment, and prognosis of children with epilepsy who have atonic seizures, with the aim of providing a reference for clinicians to correctly diagnose and treat this disease. Methods A retrospective analysis was conducted on the clinical data of children with atonic seizures admitted to the neurology department from August 2015 to December 2023. The clinical characteristics, etiology, treatment and follow-up of the children were analyzed and summarized. Results A total of 47 children had atonic seizures, including 32 boys and 15 girls. The median age of onset was 2.17 (1.17-2.92) years. Among them, 7 children had structural causes, 10 had hereditary causes, 1 had hereditary structural cause, and the causes were unknown in 29 children. The types of atonic seizures included generalized atonic seizures (33 cases), myoclonic-atonic seizures (5 cases), spasm-atonic seizures (2 cases), atypical absence seizures with atonic seizures (2 cases), both atonic seizures and myoclonic-atonic seizures (4 cases), and focal atonic seizures (1 case). The patients often have other types of seizures, with myoclonic seizures being the predominant type (15/47, 31.9%), followed by atypical absence seizures (6/47), and spasms (5/47), etc. Among the 47 children, the type of epileptic syndromes was clearly identified in 13 cases. Among them, 6 cases had epilepsy with myoclonic atonic seizures (EMAS), 5 had infantile epileptic spasms syndrome (IESS), 1 had Lennox-Gastaut syndrome (LGS), and 1 had Dravet syndrome (DS). Among the 47 patients, except for 5 patients with normal development, the remaining 42 all have some degree of intellectual disability. During atonic seizures, EEG manifestations included spike-slow waves in 20 cases, slow waves in 13 cases, multispike-slow waves in 8 cases, low-amplitude fast rhythms in 2 cases, slow waves composite fast waves in 2 cases, and slow waves followed by low-amplitude fast rhythms in 1 case. No EEG changes were observed in 1 case (electromyographic rest only). During seizures, EMG showed electromyographic suppression in 43 cases, while electromyographic suppression was inconspicuous in 4 cases. Among the 47 patients, 27 patients were controlled for at least 6 months without seizures, 14 patients had a 50% reduction in seizure frequency, and 6 patients were ineffective after anti-seizure medication. Conclusions Atonic seizures are more common in males than females and can be combined with multiple seizure forms, which are common in various epileptic syndromes. The etiology is mainly genetic and structural diseases, most of which are accompanied by intellectual disability. The main manifestations of ictal EEG are (multiple) spike slow waves, slow waves, low amplitude fast rhythms, slow wave composite fast waves, and slow waves followed closely by fast rhythms, and unchanged in EEG. Synchronous EMG monitoring is important for detecting atonic seizures.
Objective To compare the performance differences of the chemiluminescence (CL) method and the cell-based assay (CBA) method in detecting serum anti-Nephrin antibodies in children with nephrotic syndrome (NS). Methods A total of 34 children with nephrotic syndrome (NS) who visited the Pediatric Department from February 2023 to January 2025 were included, along with 18 healthy control children. Serum anti-Nephrin antibodies were detected by CL method and CBA method respectively. The children were grouped according to their urine protein levels and renal pathological types. The differences in positive rates between the groups were compared using the CL method and CBA method. The correlation and consistency between the CL method and CBA method were analyzed. The clinical characteristics of NS children with single positive by CL method and double positive by both CL method and CBA method were compared. Results Among the 34 children with NS, there were 26 boys and 8 girls. The average age was (11.7±3.9) years, and the median disease duration was 5.00 (2.75-9.00) years. There were 19 cases in the urine protein-negative group, 5 cases in the mild to moderate proteinuria group, and 10 cases in the heavy proteinuria group. There were 5 cases of focal segmental glomerulosclerosis (FSGS), 13 cases of minimal change disease (MCD), and 16 cases of minor glomerular abnormalities. The 18 healthy control children tested negative for serum anti-Nephrin antibodies using both the CL method and the CBA method. Among the 34 children with NS, the overall positive rate of CL method was 44.1% (15/34), which was higher than that by the CBA method (11.8%, 4/34), with a statistically significant difference (P=0.003). In NS patients stratified by urinary protein level (negative, mild-to-moderate, heavy), the positive rates of serum anti-Nephrin antibody were 10.5% (2/9), 80% (4/5), 90% (9/10) by CL method and 5.3% (1/19), 0 (0), 30% (3/10) by CBA method, respectively. Among the mild-to-moderate proteinuria and heavy proteinuria groups, the positive rate of the CL method was higher than that of the CBA method, and the difference was statistically significant (P<0.05). When comparing the results grouped by renal pathological types (FSGS, MCD, minor glomerular abnormalities), the positive rates of anti-Nephrin antibodies detected by the CL method were 80.00% (4/5), 46.2% (6/13), and 31.3% (5/16), respectively, while those by the CBA method were 60.00% (3/5), 0 (0), and 6.3% (1/16), respectively. Among them, the positive rate of the CL method in the MCD group was higher than that of the CBA method (P=0.015). Spearman rank correlation analysis showed that the serum anti-Nephrin antibody levels measured by the CL method and the CBA method were significantly positively correlated (rs=0.57, P<0.001). The consistency analysis of the two detection methods results revealed that the κ value was 0.63 (P<0.001), indicating good consistency. There were no significant differences in the clinical characteristics among NS children with single positive results by the CL method, double positive results by the CL method and the CBA method. Conclusions Both CL method and CBA method can be used to detect anti-Nephrin antibodies and the results are related. However, the CL method has higher sensitivity and can identify a wider range of antibody-positive children, and can be used as a preferred detection and monitoring tool for autoimmune podocyte injury in children with NS.
This study retrospectively analyzed clinical data from a family with childhood isolated nephrotic syndrome (INS) caused by compound heterozygous mutations in the COQ2 gene, to explore the correlations between genotype, clinical phenotypic characteristics, and prognosis. Two siblings in the family presented with INS, and renal pathological examination revealed focal segmental glomerulosclerosis (FSGS). Genetic testing identified that both siblings carried compound heterozygous mutations in COQ2: c.233T>G (NM_001358921.2), p.(Met78Arg) and c.823A>G (NM_001358921.2), p.(Thr275Ala), with c.233T>G being a de novo variant. The proband (elder brother) initially underwent genetic testing that failed to identify the etiology; treatment with glucocorticoids and immunosuppressants was ineffective, leading to progressive disease deterioration and eventual death. His younger sister, however, received an early diagnosis via reanalysis of the proband’s original sequencing data shortly after symptom onset. She was promptly administered high-dose coenzyme Q10 replacement therapy and had glucocorticoids gradually tapered and discontinued. After one year of treatment, her urinary protein levels decreased significantly, and clinical symptoms and laboratory indicators improved markedly, with a favorable prognosis. This study confirms the critical value of genetic testing and periodic reanalysis of sequencing data in the diagnosis and management of such inherited kidney diseases, as well as the efficacy of early clinical intervention in improving patient outcomes. It provides important references for the diagnosis, treatment, and genetic counseling of primary coenzyme Q10 deficiency-related nephropathy.
Objective Pediatric intestinal Behcet’s syndrome (PIBS) is a rare but severe systemic vascular inflammatory disease characterized by diverse clinical manifestations and difficult early diagnosis. To investigate the clinical features, endoscopic and pathological outcomes, treatment and prognosis of PIBS. Methods Case series study was conducted. The clinical data of 13 children with PIBS diagnosed in the department of gastroenterology from December 2017 to December 2024 were retrospectively analyzed, and followed up until June 2025. Primary outcome measures clinical response rate, mucosal healing rate under endoscopic observation. Results There were 13 children with PIBS, 5 males and 8 females, with a median age of onset of 89.0 (50.0-96.0) months and a median diagnosis time of 10.0 (2.0-24.5) months; The clinical manifestations were abdominal pain (84.6%), diarrhea (30.8%), recurrent oral ulcers (92.3%), and fever (84.6%), with 1 case with intestinal obstruction, intestinal perforation and abdominal abscess, and 1 case with spleen abscess; Endoscopy showed multiple deep and large circular ulcers at the end of the ileum or ileocecal region. Pathological results showed only one case of vasculitis; the rest were chronic active nonspecific inflammation. In terms of treatment, 10 patients received only glucocorticoid combined with immunosuppressants at the beginning, of which 2 patients were treated with biologics in the later stage, and the other 3 patients received biologics initially. Conclusions PIBS lacks distinctive clinical features and has a high rate of complications; however, it exhibits certain characteristics on endoscopy and histopathology. Pediatricians should increase their awareness of this condition, as early diagnosis and standardized treatment can improve prognosis.
X-linked adrenoleukodystrophy (X-ALD) is a severe, progressive peroxisomal disorder inherited in an X-linked recessive pattern, characterized by high morbidity, neurologic deterioration, and premature mortality. Early identification and timely initiation of presymptomatic intervention are crucial for improving patient outcomes. Currently, newborn screening for X-ALD has been widely implemented internationally. In recent years, some provinces and cities in China have begun exploring the inclusion of X-ALD in routine newborn screening programs, leveraging advanced mass spectrometry platforms, but a standardized screening protocol has yet to be established. This article systematically reviews the clinical features of X-ALD, early intervention strategies, the value of newborn screening, and international and domestic practices and challenges. It highlights the necessity of X-ALD screening and identifies key issues requiring urgent resolution at this stage, aiming to provide scientific evidence and insights for developing and promoting standardized screening and early intervention protocols tailored to the Chinese population.
Cystinuria is an autosomal recessive disorder caused by mutations in the SLC3A1 or SLC7A9 genes, leading to functional defects in the renal tubular b0,+ amino acid transporter, and is clinically characterized by early-onset and highly recurrent urolithiasis. Currently, clinical diagnosis primarily relies on urinalysis, stone analysis, imaging modalities, and genetic testing. First-line interventions include hyperhydration, urine alkalinization, and dietary restrictions, supplemented by thiol-based drugs as a second-line therapy to prevent stone formation. However, traditional interventions face significant limitations, such as poor pediatric adherence and pronounced adverse drug reactions. Consequently, recent therapeutic strategies for this disease have gradually shifted toward precision intervention. Novel pharmacological agents, such as L-cystine analog-based crystallization inhibitors and α-lipoic acid, have demonstrated promising therapeutic potential. Furthermore, targeted gene repair therapies utilizing adeno-associated virus 9 or piggyBac as delivery vectors have been preliminarily shown to effectively reduce stone burden in animal models. This review summarizes the pathogenesis and current clinical management of cystinuria, and objectively evaluates the prospects of novel therapies and genetic interventions, aiming to provide a theoretical reference for the optimized clinical management of this disease.
Objective The caregiving ability and coping level of parents are key factors influencing the control effect of childhood asthma, and parents' psychological resilience significantly affects their coping styles, which in turn has a significant impact on the control of childhood asthma. This study focuses on the potential subtypes and influencing factors of psychological resilience and coping styles of parents of children with asthma, and explores possible paths to further improve asthma control by improving parents' psychological resilience and coping styles. Methods A cross-sectional survey was conducted between February and June 2025, enrolling 236 parents of children with asthma via convenience sampling from a pediatric outpatient department. Data were collected using a general demographic questionnaire, the Connor-Davidson Resilience Scale (CD-RISC), and the Simplified Coping Style Questionnaire (SCSQ). Latent profile analysis (LPA) was employed to empirically derive homogeneous subgroups based on resilience and coping scores. Multinomial logistic regression was then used to identify factors associated with subgroup membership, with the low resilience-negative coping subtype as the reference category. Results The psychological resilience and coping styles of parents of children with asthma can be classified into three types: low resilience - negative coping (22.0%), medium resilience - mixed coping (41.5%), and high resilience - positive coping (36.4%). The logistic regression analysis results showed that the significant influencing factors for the medium resilience - mixed coping type were parents' educational level (OR=1.791, 95%CI: 1.074-2.986), family monthly income (OR=2.420, 95%CI:1.256-4.663), whether they were the main caregivers (OR=2.001, 95%CI:1.074-3.586), and the frequency of attacks (OR=0.346, 95%CI:0.158-0.761). In the high resilience - positive coping type, the significant influencing factors were the age of the child (OR=4.088, 95%CI:1.320-12.662), parents' educational level (OR=1.712, 95%CI:1.051-2.789), family monthly income (OR=3.025, 95%CI:1.156-9.236), whether they were the main caregivers (OR=3.304, 95%CI:1.049-10.372), and the duration of asthma (OR=0.331, 95%CI:0.163-0.673) and the frequency of attacks (OR=0.232, 95%CI:0.105-0.513). Conclusions Parental psychological resilience and coping styles exhibit substantial heterogeneity among families of children with asthma. Targeted interventions—tailored to parental education level, household resources, caregiving role, and disease burden (exacerbation frequency, duration)—may enhance parental adaptive coping and resilience, thereby improving asthma control in children.
Objective Antigen escape, particularly CD19 loss, limits the efficacy of CD19-targeted chimeric antigen receptor T-cell (CAR-T) therapy in children with relapsed/refractory B-cell acute lymphoblastic leukemia (R/R B-ALL). PAX5 gene variations have been shown to disrupt CD19 expression stability and increase relapse risk. This study aimed to compare the therapeutic efficacy of two CD19/CD22 dual-targeting CAR-T strategies, namely co-infusion versus bicistronic construct, in children with R/R B-ALL harboring PAX5 gene variations. Methods A retrospective analysis was conducted on the clinical data of R/R B-ALL children with PAX5 gene variation admitted to the hospital from November 5, 2019 to May 31, 2023. The patients were divided into a co-infusion group (Co group) and a bicistronic group (Bi group). All children received lymphodepletion conditioning followed by CAR-T cell infusion at a dose ranging from 2×106 to 10×106 cells/kg. The primary endpoints included the 30-day complete remission (CR) rate, minimal residual disease (MRD) negativity rate, relapse rate, survival outcomes, and treatment-related toxicity. The follow-up cutoff date was March 31, 2025. Results A total of 22 children with R/R B-ALL and PAX5 gene variations were included, including 18 cases (81.8%) of fusion variations, 2 cases (9.1%) of deletions, and 2 cases (9.1%) of missense variations. Six children (27.3%) had complex karyotypes (≥ 3 abnormalities). Among them, 8 patients received combined infusion of CAR-T treatment (Co group), and 14 received bicistronic CAR-T treatment (Bi group). The median age of the children at the time of treatment was 5.57 years (ranging from 1.31 to 14.85 years), and there were 13 boys and 9 girls. The CR rate of children in both the Co group and the Bi group was 100% 30 days after infusion, and the MRD was negative in both groups (MRD<0.01%). The median follow-up time was 26.5 months (range 5 to 66 months). Among the 22 patients, the 6-month, 12-month and 3-year overall survival (OS) rates were 95.45%, 90.91% and 63.64%, respectively. Meanwhile, the 6-month, 12-month and 3-year event-free survival (EFS) rates were 77.27%, 54.55% and 40.91%, respectively. The 6-month, 12-month, and 3-year OS rates in the Co group were 100%, 87.5%, and 50%, respectively, while those in the Bi group were 92.9%, 92.9%, and 71.4%, respectively. The 6-month, 12-month, and 3-year EFS rates in the Co group were 75%, 62.5%, and 37.5%, respectively, and those in the Bi group were 78.6%, 50%, and 42.9%, respectively. There were no statistically significant differences in OS and EFS rates between the two groups (POS=0.411, PEFS=0.826). A total of 4 children received allogeneic hematopoietic stem cell transplantation (allo-HSCT) after CAR-T treatment. The 6-month, 12-month and 3-year OS rates in the transplantation group were 100%, 100% and 50.0%, respectively, while those in the non-transplantation group were 94.4%, 88.9% and 66.7%, respectively. The 6-month, 12-month and 3-year EFS rates in the transplantation group were 75.0%, 75.0% and 50.0%, respectively, while those in the non-transplantation group were 77.8%, 50.0% and 38.9%, respectively. There were no statistically significant differences in OS and EFS rates between the two groups (POS=0.693, PEFS=0.553). Regarding toxicity, the incidence of grade ≥3 cytokine release syndrome (CRS) was 25.0% and 57.1% in the Co and Bi groups, respectively; the incidence of immune effector cell-associated neurotoxicity syndrome (ICANS) was 25.0% and 21.4%, respectively. All adverse events were manageable and no treatment-related death occurred. Conclusions Both co-infusion and bicistronic CD19/CD22 dual-targeting CAR-T strategies exhibit favorable short-term efficacy and comparable safety profiles in pediatric R/R B-ALL with PAX5 variations. However, the 3-year EFS rate remains at a relatively low level, suggesting that the long-term prognosis still needs further improvement.
Objective To characterize the clinical features and independent risk factors for plastic bronchitis (PB) in children with pneumonia, and to develop and validate a clinically applicable nomogram for early risk stratification. Methods A retrospective analysis was conducted on the data of children hospitalized from January 2018 to January 2025, who were diagnosed with pneumonia and underwent bronchoscopy. Stratified sampling was used to divide the data into a training set and a test set at a ratio of 7∶3, ensuring that the PB incidence rate in both sets was approximately 7.0%. After collinearity analysis, variables were selected using LASSO combined with logistic regression, and then included in weighted logistic regression to establish a prediction model. A nomogram was constructed, and the model was validated through receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA) curves. Results Among 2697 eligible children, 190 (7.0%) developed PB. Bootstrap aralysis of the weighted cogistic regression model identified nine independent predictors: asthma history (OR=1.67, 95% CI: 1.24-2.15, P<0.001), tachypnea (OR=2.01, 95% CI: 1.54-2.64, P<0.001), fever duration (OR=4.00, 95% CI: 3.24-5.83, P<0.001), pleural effusion (OR=1.53, 95% CI: 1.19-1.94, P<0.001), airway obstruction on CT reconstruction (OR=2.42, 95% CI: 1.77-3.87, P<0.001), neutrophil-to-lymphocyte ratio (NLR) (OR=1.63, 95% CI: 1.28-2.25, P<0.001), platelet count (OR=0.54, 95% CI: 0.33-0.72, P<0.001), fibrinogen (OR=1.48, 95% CI: 1.12-2.08, P=0.004), and D-dimer (OR=1.46, 95% CI: 1.20-1.80, P=0.006). The nomogram demonstrated good predictive performance in the test set with an AUC of =0.921,（95% CI: 0.88-0.96; P<0.05). Conclusion PB is a rare but severe complication of pediatric pneumonia, associated with distinct and quantifiable clinical and laboratory features. The validated nomogram provides a practical, interpretable, and statistically robust tool for early identification of high-risk children—enabling timely bronchoscopic evaluation and intervention.
Objective To assess the disease burden and long-term trends of six major urinary system diseases among children and adolescents under 20 years in China from 1990 to 2023, and to quantify the driving effects of demographic and epidemiological factors. Methods Data on the number of incident cases, incidence rates, disability-adjusted life years (DALYs), and DALY rates for the Chinese population under 20 years old from 1990 to 2023 were extracted from the Global Burden of Disease Study (GBD) 2023. Descriptive statistics and the average annual percentage change (AAPC) derived from Joinpoint regression models were employed to analyze temporal trends. A demographic decomposition method was applied to quantify the contributions of changes in age structure, population size, and age-specific rates to the changes in DALYs. Results From 1990 to 2023, the overall incidence rate of urinary system diseases in China's population under 20 years declined from 384.70 to 285.38 per 100,000, and the overall DALY rate decreased from 160.82 to 39.81 per 100,000. Significant shifts were observed in the disease spectrum. Urinary tract infections and interstitial nephritis remained the most common conditions (accounting for 68.70% of incidence in 2023), whereas chronic kidney disease (48.61%) and kidney cancer (26.03%) constituted the primary sources of DALY burden. The distribution of diseases exhibited distinct age and sex patterns. Decomposition analysis indicated that for all diseases except congenital genitourinary anomalies, the reduction in DALYs was predominantly attributable to improvements in epidemiological factors, with contribution rates ranging from 58.10% to 83.94%. Conclusions The burden of urinary system diseases among children and adolescents in China decreased markedly between 1990 and 2023, largely driven by public health initiatives and advances in clinical diagnosis and treatment. Future prevention and control strategies should prioritize the evolving disease spectrum and implement precise interventions targeting key populations, such as adolescent females, adolescent males, and infants.
To summarize clinical characteristics, treatment and prognosis of lower extremity arterial thrombosis caused by systemic lupus erythematosus (SLE) complicated with antiphospholipid syndrome (APS) in children, and to provide diagnostic and therapeutic experience for clinicians. Two cases of lower extremity arterial thrombosis caused by SLE complicated with APS were collected.The differences in clinical characteristics, treatment plans and prognosis were compared and analyzed between two cases. Patient 1 was treated with glucocorticoids, cyclophosphamide, belimumab, intravenous immunoglobulins, hydroxychloroquine and anticoagulation drug. However, gangrene still occurred, resulting in necrosis and eventual auto-amputation of toe bones. During a follow-up of 4 years, no thrombotic events recurred. Patient 2 was treated with glucocorticoids, rituximab, hydroxychloroquine, anticoagulation drug, balloon dilation, catheter-directed thrombolysis and thrombus aspiration. The patient had a good prognosis after 9 months of follow-up. Children with SLE complicated by APS may develop lower extremity arterial thrombosis, which carries a risk of serious adverse outcomes. Early diagnosis and active treatment are crucial.
Objective To analyze the clinical characteristics of children carrying truncating variants in the last exon of CREBBP and to explore their phenotypic features in comparison with the classical Rubinstein-Taybi syndrome (RSTS). Methods The clinical and genetic data of three patients carrying truncating variants in the last exon of CREBBP (NM_004380.3) were retrospectively reviewed. Their phenotypic features were compared with previously reported cases involving last exon variants and with the classical RSTS phenotype. Results All three patients harbored heterozygous nonsense variants in the last exon of CREBBP. All three variants arose de novo. Two variants had been previously reported, and one was novel. According to ACMG/AMP guidelines, the variants were classified as pathogenic or likely pathogenic. All patients exhibited features within the RSTS spectrum, while the core manifestations varied. One patient showed broad thumbs/halluces and several characteristic facial features of RSTS, whereas the other two displayed only partial RSTS-related features and did not fully meet the classical phenotype. A review of the literature indicated that patients with CREBBP last exon variants demonstrated heterogeneity in the expression of core features and disease severity. Conclusions Patients with nonsense variants in the last exon of CREBBP generally fall within the RSTS phenotypic spectrum, although their clinical manifestations may be atypical or incomplete. Comprehensive evaluation integrating detailed phenotypic assessment with molecular findings is important for accurate diagnosis and genetic counseling.
The 13th International Conference on Nutrition and Growth (N&G 2026) was held in Prague, Czech Republic, from April 9 to 11, 2026. The conference brought together leading pediatricians, nutritionists, neonatologists, child development specialists, and researchers from related disciplines worldwide to discuss key and emerging topics in pediatric nutrition, growth, and development. Faltering growth (FG) and its management remain major challenges in pediatric practice globally. This article aims to systematically summarize and interpret the latest discussions presented at the conference regarding the evolving definitions of faltering growth, its identification and assessment, and evidence-based management strategies. It is intended to provide clinicians with up-to-date, authoritative, and practical guidance for the management of children with faltering growth.
