Translational pediatrics最新文献

Background: Infantile epileptic spasms syndrome (IESS) is an age-related developmental and epileptic encephalopathy. Adrenocorticotropic hormone (ACTH), one of the first-line treatment, has its efficacy influenced by multiple factors. This study aimed to investigate and analyze clinical variables (pre-treatment clinical data, serum and urine routine test) in children with IESS to predict outcomes after the first ACTH treatment. Furthermore, the potential impact of underlying factors on ACTH efficacy was assessed.

Methods: A total of 186 children who received ACTH treatment for the first time in the Pediatric Department of The First Medical Center of the Chinese PLA General Hospital from January 2018 to June 2023 were retrospectively evaluated. They were divided into the responsive group and the non-responsive group according to the clinical outcomes after treatment. The clinical data of the two groups were compared, followed by logistic regression analysis to evaluate the relationship between the factors and ACTH treatment outcome.

Results: The lead time between the first spasm onset and ACTH treatment initiation was significantly shorter in the responsive group compared with the non-responsive group. Additionally, more patients experienced epileptic spasms after the age of 3 months and responded significantly better to ACTH treatment than those whose spasms began within the first 3 months. Compared to children with IESS of unknown etiology, patients with congenital genetic abnormalities without structural abnormalities were less likely to have a short-term response to ACTH treatment. Despite no significant differences in serum sodium, potassium, calcium, and chloride levels between the two groups, pre-treatment serum inorganic phosphate levels were correlated with ACTH efficacy. The responsive group had significantly higher pre-treatment urinary pH levels.

Conclusions: IESS patients should receive first-line treatment immediately after spasm onset. The age of epileptic spasms onset and its etiology may help predict the efficacy of ACTH treatment. Serum inorganic phosphate levels and urinary pH levels seem to play an important role in the treatment of IESS with ACTH, and they may have indicative significance for precision treatment.

Background: Optimizing transfusion regimens is crucial for children with transfusion-dependent thalassemia (TDT). This study aimed to identify the determinants of intertransfusion intervals to address this need.

Methods: This single-center retrospective observational study included 21 pediatric β-thalassemia patients with 392 transfusions. Transfusions were grouped by median interval (18 days). The associations between intertransfusion intervals and demographics, genotype, red blood cells (RBC) product characteristics, as well as transfusion adequacy were analyzed using univariate tests and correlation analysis. Binary logistic regression was used to identify the independent determinants of intertransfusion intervals, and then multivariable linear regression was constructed to evaluate the factors influencing hemoglobin levels before the subsequent transfusion.

Results: Genotype severity [major vs. minor, odds ratio (OR) =0.397, P=0.03] and RBC product type [leukocyte-reduced RBC (LRBC) vs. washed RBC (WRBC), OR =0.378, P=0.007] independently influenced intertransfusion intervals. Age and weight correlated negatively with intertransfusion intervals (r =-0.341 and -0.298, P<0.001). Patients with a major genotype exhibited a markedly decreased of 8.428 g/L (P<0.001) in the hemoglobin level before the subsequent transfusion, while the intermediate genotype showed a moderate reduction of 5.534 g/L (P=0.01), relative to the minor genotype reference. LRBC transfusions were associated with a significant hemoglobin advantage, demonstrating a 2.681 g/L elevation (P=0.049) compared to WRBC transfusions, administered as 1-unit protocols. Adverse reactions occurred in 5/21 patients (23.8%), which included febrile reactions and alloimmunization.

Conclusions: Genotype severity and RBC product type significantly affect intertransfusion intervals in pediatric TDT. Personalized strategies considering these factors may optimize transfusion efficacy and reduce complications.

Background: Neonatal respiratory distress syndrome (NRDS) is a leading cause of neonatal respiratory failure and mortality. This study investigated risk factors for intensive care unit (ICU) length of stay in newborns with NRDS.

Methods: The data were collected from the MIMIC-III database. Baseline characteristics were recorded. Machine learning methods were used to identify key factors associated with ICU stay length. The nonlinear associations of hemoglobin and base excess (BE) with ICU stay length were assessed using generalized additive model (GAM) analysis and threshold effect analysis. Mediation analysis explored the relationship between hemoglobin, BE, and length of ICU stay.

Results: We enrolled 1,241 NRDS-diagnosed newborn infants. Four key variables (height, weight, hemoglobin, and BE) were correlated with the length of ICU stay. Specifically, hemoglobin levels (≥12.1 g/dL) and BE (≥-8.3 mmol/L) were negatively correlated with ICU stay length. Hemoglobin was an independent predictor for shorter ICU stay (β=-0.503, 95% CI: -0.958 to -0.049) (P<0.05), and its level was positively associated with BE (P<0.05). Mediation analysis revealed that BE partially mediated the relationship between hemoglobin and ICU stay length.

Conclusions: Hemoglobin level was a crucial independent predictor for ICU stay duration in NRDS patients, with BE as a mediator. These findings highlight the importance of maintaining adequate hemoglobin levels to improve NRDS outcomes.

Background: Extrahepatic portal vein obstruction (EHPVO) is a leading cause of pediatric portal hypertension. While invasive portography remains the diagnostic gold standard, its risks highlight the need for non-invasive alternatives. This study aims to integrate ultrasound imaging features and serological markers to establish a machine learning model for noninvasive, simplified preoperative assessment of the portal system in pediatric patients with EHPVO. The model will serve as a reference for selecting optimal surgical strategies.

Methods: A total of 103 pediatric EHPVO patients who underwent surgery were enrolled, including 81 Rex shunt and 22 Warren shunt cases. In the training set, the least absolute shrinkage and selection operator (LASSO) algorithm identified potential predictors. Five machine learning algorithms were employed for modeling. Model performance was evaluated through internal validation and external validation.

Results: Baseline characteristics showed no significant differences between training and validation sets. LASSO-selected features were used to construct five prediction models. The extreme gradient boosting (XGBoost) model outperformed the others. It achieved an area under the receiver operating characteristic curve (AUC) of 0.90 [95% confidence interval (CI): 0.79-0.99] on the training set and 0.75 (95% CI: 0.54-0.97) on the validation set. An online platform (https://rexshunt.shinyapps.io/rexorwarren/) was subsequently developed based on this optimal model.

Conclusions: This study established a predictive model combining serological markers and ultrasound parameters to preoperatively assess portal venous anatomy in pediatric EHPVO. The online tool provides a noninvasive, user-friendly solution to guide surgical strategy selection for children with EHPVO.

Background: Hemiplegic migraine (HM) is a rare monogenic subtype of migraine characterized by a broad spectrum of symptoms, ranging from transient hemiplegic episodes to recurrent coma. Imaging documentation of cerebral vasospasm during acute HM attacks is exceedingly rare. We present a pediatric case of familial HM (FHM) with cerebral vasospasm and acute encephalopathy caused by an ATP1A2 gene variant to enhance clinical recognition of this condition.

Case description: An 11-year-old Asian female with a 2-year history of recurrent HM presented with fever, headache, altered consciousness, and right-sided weakness for 48 hours. The current acute episode occurred without identifiable triggers and was characterized by fever, prolonged headache, acute encephalopathy, and persistent hemiplegia. Acute-phase magnetic resonance imaging revealed left cerebral cortical swelling with mild diffusion restriction. Magnetic resonance angiography demonstrated dynamic cerebral vasospasm, with spontaneous resolution observed on follow-up imaging. A heterozygous c.2464G>A (p.Glu822Lys) missense variant in the ATP1A2 gene was identified; this variant was inherited from her mother, who has a history of recurrent headaches.

Conclusions: This report describes a unique case of internal carotid artery vasospasm occurring in HM, which, to our knowledge, has not been previously reported in the literature. Investigating alterations in the cerebrovascular system contributes significantly to understanding the clinical manifestations and underlying mechanisms of HM.

Background: The incidence of incomplete Kawasaki disease (IKD) has been rising, and it is associated with a higher risk of coronary artery lesions (CALs); however, the underlying reasons remain unclear. This study conducted a comparative analysis of the clinical data of children in the IKD and complete Kawasaki disease (CKD) groups, and aimed to determine risk factors associated with CAL in children diagnosed with IKD through least absolute shrinkage and selection operator (LASSO)-logistic regression, and to develop a predictive model for CAL occurrence in this population.

Methods: Clinical records of IKD patients admitted to Xuzhou Children's Hospital between January 2021 and December 2023 were retrospectively analyzed. Based on diagnostic criteria, subjects were classified into CAL and non-CAL groups, forming the training dataset. Predictive variables were identified using LASSO regression with cross-validation. A nomogram was constructed to visualize the prediction model. Data from IKD patients hospitalized between January and June 2024 were utilized as an external validation cohort (test dataset) to assess the model's predictive accuracy.

Results: Eight variables were retained as predictors through LASSO regression: gender, fever duration, conjunctival injection, cervical lymphadenopathy, erythrocyte sedimentation rate (ESR), neutrophil percentage (Neu%), alanine aminotransferase (ALT), and aspartate aminotransferase (AST). The nomogram-based model yielded an area under the curve (AUC) of 0.817 [95% confidence interval (CI): 0.757-0.878], with sensitivity and specificity of 83.1% and 71.6%, respectively. When applied to the test cohort, the model demonstrated an AUC of 0.888 (95% CI: 0.720-0.975), with corresponding sensitivity of 75.0% and specificity of 88.0%.

Conclusions: The model integrating gender, fever duration, conjunctival injection, cervical lymphadenopathy, ESR, Neu%, ALT, and AST, offers a reliable approach for predicting CAL risk in pediatric IKD cases.

Background: Childhood hypertension is a significant global health concern, with left ventricular hypertrophy (LVH) being its most common target organ damage. Evidence from Chinese pediatric populations remains scarce. Therefore, this study aimed to investigate the risk factors of LVH in children with primary hypertension and to develop a prediction model.

Methods: In this cross-sectional study, 121 children diagnosed with primary hypertension (aged 3-17 years) admitted to Children's Hospital of Fudan University (January 1, 2019-December 31, 2024) were included. Clinical data (age, sex, height, weight, birth history, and family history of hypertension), laboratory parameters, 24-hour ambulatory blood pressure monitoring (ABPM), and echocardiography were collected. Participants were stratified into the LVH group and the non-LVH group based on left ventricular mass index (LVMI). Partial correlation analysis evaluated associations of variables with left ventricular mass and LVMI. Stepwise multivariable logistic regression was used to identify independent risk factors. Based on significant factors, a risk prediction model was constructed, with model performance assessed via receiver operating characteristic (ROC) curves [area under the curve (AUC)] and goodness-of-fit tests (Hosmer-Lemeshow χ²).

Results: LVH was observed in 17.4% (21/121) of participants, predominantly concentric hypertrophy. Partial correlation analysis adjusted for age and sex revealed positive correlations of alanine aminotransferase (ALT), aspartate aminotransferase (AST), 24-hour mean systolic blood pressure (SBP), daytime mean SBP, and morning mean SBP (the average of ambulatory SBP readings taken within 2 hours of waking up) with LVMI (r=0.26, 0.37, 0.25, 0.25, and 0.23, all P<0.05), respectively. Nocturnal hypertension was identified as an independent risk factor of LVH [odds ratio (OR) =4.07; 95% confidence interval (CI): 1.47-13.24; P=0.01]. The combined prediction model incorporating age, sex, body mass index (BMI), and nocturnal hypertension demonstrated a moderate discrimination (AUC =0.710; 95% CI: 0.593-0.827) and good calibration (Hosmer-Lemeshow χ²=5.70; P=0.68).

Conclusions: This study identified nocturnal hypertension as a critical independent risk factor for LVH in pediatric primary hypertension. The prediction model may provide valuable insights for early identification of LVH.

Background: Vaccine hesitancy, fueled by mistrust, fear, and misinformation, remains a major public health challenge. Generative artificial intelligence tools such as ChatGPT have emerged as new information sources, particularly for younger users. It is essential that these tools provide medically accurate content, especially when responding to negatively framed vaccine questions. This study aims to examine how ChatGPT responds to vaccine-related questions, focusing on questions with negative or skeptical framing.

Methods: This anonymous survey targeted board-certified pediatric infectious disease specialists in Japan to evaluate ChatGPT's responses to vaccine-related questions. Using ChatGPT-4o, 20 question pairs (supportive vs. critical framing) were generated, and responses in Japanese were obtained. Participants were randomly assigned to assess half of the responses via Google Forms, rating Clarity, Appropriateness, Ambiguity, and Length on a five-point Likert scale, with optional free-text comments. Quantitative comparisons between supportive and critical questioning used the Mann-Whitney U test; qualitative feedback was thematically analyzed.

Results: Twenty of 22 invited specialists (90.9%) completed the survey. Median [25th-75th percentile] scores for supportive vs. critical questioning were: Clarity, 4 [3-4] vs. 4 [3-4]; Appropriateness, 3 [3-4] vs. 3 [3-4]; Ambiguity, 4 [3-4] vs. 4 [3-4]; Length, 3 [3-4] vs. 3 [3-4]. No significant differences were found for any item. Among 81 free-text comments, the most frequent concerns were "bias toward COVID-19 vaccines" (n=38), "insufficient explanation" (n=19), and "potentially misleading expressions" (n=9). Examples included overemphasis on COVID-19 in unrelated contexts and problematic phrasing regarding human papillomavirus vaccine adverse events.

Conclusions: ChatGPT maintained comparable quality in Japanese responses to both supportive and critical vaccine questions, suggesting resilience to negative framing. However, expert reviewers identified thematic biases, occasional inadequacy of detail, and linguistic issues that could mislead lay readers. These findings underscore the need for continued human oversight, refinement of Japanese-language outputs, and algorithmic adjustments to reduce topical bias.

Background: Herpes simplex encephalitis (HSE) in children represents a severe neurological condition with potentially lasting consequences. This bibliometric study aims to provide a comprehensive evaluation of global research trends, key developments, and emerging areas of interest in pediatric HSE.

Methods: Literature research was performed in the Web of Science Core Collection, covering publications between 1975 and 2024. VOSviewer, CiteSpace and R 4.3.3 were employed for data analysis and visualization.

Results: A total of 413 relevant studies were identified. The analysis revealed a consistent growth in research output on pediatric HSE, with the United States emerging as the leading country in both publication volume and academic influence. Institutions such as Rockefeller University and Université Paris Cité were major contributors to the field. Journals including Pediatric Neurology and Clinical Infectious Diseases published the most influential articles. Influential authors included Zhang SY and Casanova JL, who made significant contributions to understanding genetic and immune mechanisms. The keyword analysis revealed research hotspots around immune responses, genetic mutations, and autoimmune encephalitis, indicating a shift towards personalized medicine approaches.

Conclusions: This bibliometric analysis provides an overview of research progress in pediatric HSE, identifying key trends, influential contributions, and emerging focal areas. The findings offer valuable insights into the current state of the field and suggest directions for future research, with a particular emphasis on personalized therapeutic strategies in pediatric HSE.