Pub Date : 2025-11-30Epub Date: 2025-11-26DOI: 10.21037/tp-2025-531
Yongmao Xu, Shuhui Wang, Chi Zhang, Ling Niu, Fei Wang, Zhenzhou Wang, Nan Ling, Dan Shi, Tongtong Shi, Yan Wang, Xinjiang An, Haitao Lv
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.
{"title":"Development and validation of an early predictive model for coronary artery lesions in incomplete Kawasaki disease.","authors":"Yongmao Xu, Shuhui Wang, Chi Zhang, Ling Niu, Fei Wang, Zhenzhou Wang, Nan Ling, Dan Shi, Tongtong Shi, Yan Wang, Xinjiang An, Haitao Lv","doi":"10.21037/tp-2025-531","DOIUrl":"10.21037/tp-2025-531","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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%.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"3029-3044"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Nocturnal hypertension predicts left ventricular hypertrophy in children with primary hypertension.","authors":"Jiayu Wang, Jialing Zhang, Chen Chu, Jie Wang, Fang Liu, Feng Wang, Yonghao Gui","doi":"10.21037/tp-2025-567","DOIUrl":"10.21037/tp-2025-567","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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 χ<sup>2</sup>).</p><p><strong>Results: </strong>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 χ<sup>2</sup>=5.70; P=0.68).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"3011-3019"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-30Epub Date: 2025-11-25DOI: 10.21037/tp-2025-602
Yoshiki Kusama, Satoshi Kutsuna
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.
{"title":"Evaluating ChatGPT's responses to vaccine-related questions: the impact of question framing on content and quality.","authors":"Yoshiki Kusama, Satoshi Kutsuna","doi":"10.21037/tp-2025-602","DOIUrl":"10.21037/tp-2025-602","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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 <i>vs.</i> 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 <i>U</i> test; qualitative feedback was thematically analyzed.</p><p><strong>Results: </strong>Twenty of 22 invited specialists (90.9%) completed the survey. Median [25th-75th percentile] scores for supportive <i>vs.</i> critical questioning were: Clarity, 4 [3-4] <i>vs.</i> 4 [3-4]; Appropriateness, 3 [3-4] <i>vs.</i> 3 [3-4]; Ambiguity, 4 [3-4] <i>vs.</i> 4 [3-4]; Length, 3 [3-4] <i>vs.</i> 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"3020-3028"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
背景:儿童单纯疱疹脑炎(HSE)是一种严重的神经系统疾病,具有潜在的持久后果。这项文献计量学研究旨在全面评估全球研究趋势、关键发展和儿科HSE新兴领域。方法:检索Web of Science核心馆藏,检索1975 - 2024年间的出版物。采用VOSviewer、CiteSpace和R 4.3.3进行数据分析和可视化。结果:共纳入相关研究413项。分析显示,儿童HSE研究成果持续增长,美国在出版物数量和学术影响力方面都处于领先地位。洛克菲勒大学和巴黎城市大学等机构是该领域的主要贡献者。包括《小儿神经病学》和《临床传染病》在内的期刊发表了最有影响力的文章。有影响力的作者包括Zhang SY和Casanova JL,他们在理解遗传和免疫机制方面做出了重大贡献。关键词分析揭示了免疫反应、基因突变和自身免疫性脑炎等方面的研究热点,表明了个性化医疗方法的转变。结论:该文献计量学分析概述了儿科HSE的研究进展,确定了关键趋势、有影响力的贡献和新兴的重点领域。这些发现为该领域的现状提供了有价值的见解,并为未来的研究提出了方向,特别强调了儿科HSE的个性化治疗策略。
{"title":"Research trends on herpes simplex encephalitis in children: a bibliometric analysis from 1975 to 2024.","authors":"Zhenzhen Wang, Zhefeng Yuan, Peifang Jiang, Feng Gao","doi":"10.21037/tp-2025-408","DOIUrl":"10.21037/tp-2025-408","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 <i>Pediatric Neurology</i> and <i>Clinical Infectious</i> 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"2928-2942"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-30Epub Date: 2025-11-26DOI: 10.21037/tp-2025-557
Siyuan Zheng, Chuchu Zheng, Shijie Cai, Xiaoyu Ge, Yan Chen, Weijie Ou, Yijun Lin
Background: Helicobacter pylori (HP) infection is a major cause of duodenal ulcers (DUs) in children. DUs can lead to gastrointestinal bleeding and even intestinal perforation, both of which may be life-threatening. This study aimed to establish a predictive model for identifying DUs in children with HP infection, in order to assist primary care pediatricians with early diagnosis and intervention.
Methods: A total of 456 children with HP infection admitted to Fujian Children's Hospital and Fujian Maternal and Child Health Hospital were retrospectively included. The training group comprised 307 patients from Fujian Children's Hospital, while the validation group consisted of 149 patients from Fujian Maternal and Child Health Hospital. The patients in the training group were categorized into the HP infection group or HP infection with DU group. Firstly, least absolute shrinkage and selection operator regression analysis was conducted, and the selected variables were subjected to logistic regression analysis to identify the predictors of DUs in children with HP infection. Finally, a nomogram was established for the model.
Results: Sex, melena, hemoglobin level, and uric acid level were included in the final prediction model. The area under curve values for the internal training and external validation groups were 0.740 and 0.728, respectively. The Hosmer-Lemeshow tests and calibration curves indicated that the degree of fit and consistency of the model were satisfactory. These decision curve analyses indicated that the model has certain clinical application value.
Conclusions: If male children with melena, decreased hemoglobin levels and high uric acid levels are clinically encountered, DUs require high vigilance, and the children should be promptly referred to a facility with pediatric endoscopic capabilities for further diagnosis and treatment.
{"title":"Prediction of duodenal ulcers in children with <i>Helicobacter pylori</i> infection.","authors":"Siyuan Zheng, Chuchu Zheng, Shijie Cai, Xiaoyu Ge, Yan Chen, Weijie Ou, Yijun Lin","doi":"10.21037/tp-2025-557","DOIUrl":"10.21037/tp-2025-557","url":null,"abstract":"<p><strong>Background: </strong><i>Helicobacter pylori</i> (HP) infection is a major cause of duodenal ulcers (DUs) in children. DUs can lead to gastrointestinal bleeding and even intestinal perforation, both of which may be life-threatening. This study aimed to establish a predictive model for identifying DUs in children with HP infection, in order to assist primary care pediatricians with early diagnosis and intervention.</p><p><strong>Methods: </strong>A total of 456 children with HP infection admitted to Fujian Children's Hospital and Fujian Maternal and Child Health Hospital were retrospectively included. The training group comprised 307 patients from Fujian Children's Hospital, while the validation group consisted of 149 patients from Fujian Maternal and Child Health Hospital. The patients in the training group were categorized into the HP infection group or HP infection with DU group. Firstly, least absolute shrinkage and selection operator regression analysis was conducted, and the selected variables were subjected to logistic regression analysis to identify the predictors of DUs in children with HP infection. Finally, a nomogram was established for the model.</p><p><strong>Results: </strong>Sex, melena, hemoglobin level, and uric acid level were included in the final prediction model. The area under curve values for the internal training and external validation groups were 0.740 and 0.728, respectively. The Hosmer-Lemeshow tests and calibration curves indicated that the degree of fit and consistency of the model were satisfactory. These decision curve analyses indicated that the model has certain clinical application value.</p><p><strong>Conclusions: </strong>If male children with melena, decreased hemoglobin levels and high uric acid levels are clinically encountered, DUs require high vigilance, and the children should be promptly referred to a facility with pediatric endoscopic capabilities for further diagnosis and treatment.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"2968-2980"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Congenital nephrotic syndrome (CNS) is a rare renal disorder in infants, characterized by significant proteinuria, hypoalbuminemia, edema, and hyperlipidemia, while neurological manifestations are uncommon. Pleckstrin homology and RhoGEF domain containing G2 (PLEKHG2) gene plays a crucial role in the maturation and development of axons, dendrites, and spines. Variants in the PLEKHG2 gene have previously been linked to the development of infantile-onset epileptic encephalopathy.
Case description: We report a male infant with CNS who experienced jerky myoclonus and partial seizures since the neonatal period. Electroencephalography (EEG) revealed lateralized periodic discharges (LPDs), characterized by a triphasic wave pattern. Whole exome sequencing identified two heterozygous variants in the NPHS1 gene, as well as one heterozygous and one homozygous variant in the PLEKHG2 gene. The variants in the PLEKHG2 gene were identified as the likely pathogenic responsible for the myoclonus and seizures. A comprehensive review of the existing literature was conducted to highlight the limited understanding of PLEKHG2 gene variants, their clinical manifestations, and their potential association with LPDs due to brain white matter injury.
Conclusions: Our case highlights the link between PLEKHG2 gene variants and LPDs in congenital CNS. It underscores the importance of recognizing EEG patterns associated with these variants and calls for further research into their molecular mechanisms, clinical manifestations, and potential therapies.
{"title":"Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review.","authors":"Xiaohong Wang, Yanping Xu, Chenhong Wang, Ziming Zhang, Hongfang Mei, Xiaolu Ma, Liping Shi, Zheng Chen","doi":"10.21037/tp-2025-441","DOIUrl":"10.21037/tp-2025-441","url":null,"abstract":"<p><strong>Background: </strong>Congenital nephrotic syndrome (CNS) is a rare renal disorder in infants, characterized by significant proteinuria, hypoalbuminemia, edema, and hyperlipidemia, while neurological manifestations are uncommon. Pleckstrin homology and RhoGEF domain containing G2 (<i>PLEKHG2</i>) gene plays a crucial role in the maturation and development of axons, dendrites, and spines. Variants in the <i>PLEKHG2</i> gene have previously been linked to the development of infantile-onset epileptic encephalopathy.</p><p><strong>Case description: </strong>We report a male infant with CNS who experienced jerky myoclonus and partial seizures since the neonatal period. Electroencephalography (EEG) revealed lateralized periodic discharges (LPDs), characterized by a triphasic wave pattern. Whole exome sequencing identified two heterozygous variants in the <i>NPHS1</i> gene, as well as one heterozygous and one homozygous variant in the <i>PLEKHG2</i> gene. The variants in the <i>PLEKHG2</i> gene were identified as the likely pathogenic responsible for the myoclonus and seizures. A comprehensive review of the existing literature was conducted to highlight the limited understanding of <i>PLEKHG2</i> gene variants, their clinical manifestations, and their potential association with LPDs due to brain white matter injury.</p><p><strong>Conclusions: </strong>Our case highlights the link between <i>PLEKHG2</i> gene variants and LPDs in congenital CNS. It underscores the importance of recognizing EEG patterns associated with these variants and calls for further research into their molecular mechanisms, clinical manifestations, and potential therapies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 11","pages":"3190-3197"},"PeriodicalIF":1.7,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p><strong>Background: </strong>Pediatric cholelithiasis is a biliary system calculus resulting from complex pathogenesis, which is a significant public health issue affecting children's health. This study aimed to analyze the clinical characteristics of pediatric cholelithiasis, including demographic characteristics, primary diseases, symptoms, and imaging features, then investigated the treatment strategies and effects of different types of cholelithiasis.</p><p><strong>Methods: </strong>The study retrospectively included and analyzed clinical data of children with cholelithiasis, who were admitted to the Surgery Department of Tianjin Children's Hospital between June 2017 and January 2024. These patients underwent either conservative or surgical management during their hospitalization. The following data were systematically collected: general clinical characteristics, primary comorbidities, imaging features, and perioperative laboratory indicators. Based on the World Health Organization (WHO) Child Growth Standards, the growth condition of patients was categorized into four levels: normal, overweight, obesity, and thinness. The treatment modalities for gallbladder stones and cholangiolithiasis were summarized and analyzed, and patients who received surgical treatment underwent follow-up evaluation.</p><p><strong>Results: </strong>A total of 185 patients were retrospectively reviewed: 57.8% patients had gallbladder stones, 25.4% patients had cholangiolithiasis, and 16.8% of them suffered from both conditions. The number of female patients exceeded that of male patients, but no statistically significant differences were observed between genders. The median age of onset for cholelithiasis was 7.5 (3.7-11.0) years, only 22.4% were classified as overweight or obesity. About 60% of patients had normal body mass index (BMI) values. In patients diagnosed with gallbladder stones, laparoscopic cholecystectomy (LC) and laparoscopic choledochoscopic cholecystolithotomy were predominantly employed in clinical practice. Postoperative follow-up of the cholecystectomy group was 43.8±33.0 months, with no recurrence observed. The recurrence rate of Gallbladder-preserving lithotomy group was 14.3%, following a mean follow-up of 23.1±12.3 months. Among patients with bile duct stones, endoscopic therapy accounted for 20.5% of interventions. The average postoperative hospital stay was 5.6±2.2 days. Two cases of recurrence were observed at 48 and 3 months post-endoscopic retrograde cholangiopancreatography (ERCP), respectively. However, follow-up periods should be extended to ensure long-term outcomes.</p><p><strong>Conclusions: </strong>Our study indicated that attention should be paid to pediatric patients with normal body weight, and individualized therapeutic approaches should be promoted in the management of pediatric cholelithiasis. Conservative observation should be the first-line treatment, cholecystectomy is effective for severe conditions such as severe pur
{"title":"Pediatric cholelithiasis: a comprehensive analysis of clinical characteristics and surgical treatment strategies.","authors":"Rongjuan Sun, Liang Ge, Liang Dong, Rui Shi, Zhe Yan, Shaowen Liu, Tengfei Li, Qianhui Yang, Yu Meng, Jiaying Liu, Xingyuan Ke, Yanran Zhang, Qi Ji, Jianghua Zhan","doi":"10.21037/tp-2025-367","DOIUrl":"10.21037/tp-2025-367","url":null,"abstract":"<p><strong>Background: </strong>Pediatric cholelithiasis is a biliary system calculus resulting from complex pathogenesis, which is a significant public health issue affecting children's health. This study aimed to analyze the clinical characteristics of pediatric cholelithiasis, including demographic characteristics, primary diseases, symptoms, and imaging features, then investigated the treatment strategies and effects of different types of cholelithiasis.</p><p><strong>Methods: </strong>The study retrospectively included and analyzed clinical data of children with cholelithiasis, who were admitted to the Surgery Department of Tianjin Children's Hospital between June 2017 and January 2024. These patients underwent either conservative or surgical management during their hospitalization. The following data were systematically collected: general clinical characteristics, primary comorbidities, imaging features, and perioperative laboratory indicators. Based on the World Health Organization (WHO) Child Growth Standards, the growth condition of patients was categorized into four levels: normal, overweight, obesity, and thinness. The treatment modalities for gallbladder stones and cholangiolithiasis were summarized and analyzed, and patients who received surgical treatment underwent follow-up evaluation.</p><p><strong>Results: </strong>A total of 185 patients were retrospectively reviewed: 57.8% patients had gallbladder stones, 25.4% patients had cholangiolithiasis, and 16.8% of them suffered from both conditions. The number of female patients exceeded that of male patients, but no statistically significant differences were observed between genders. The median age of onset for cholelithiasis was 7.5 (3.7-11.0) years, only 22.4% were classified as overweight or obesity. About 60% of patients had normal body mass index (BMI) values. In patients diagnosed with gallbladder stones, laparoscopic cholecystectomy (LC) and laparoscopic choledochoscopic cholecystolithotomy were predominantly employed in clinical practice. Postoperative follow-up of the cholecystectomy group was 43.8±33.0 months, with no recurrence observed. The recurrence rate of Gallbladder-preserving lithotomy group was 14.3%, following a mean follow-up of 23.1±12.3 months. Among patients with bile duct stones, endoscopic therapy accounted for 20.5% of interventions. The average postoperative hospital stay was 5.6±2.2 days. Two cases of recurrence were observed at 48 and 3 months post-endoscopic retrograde cholangiopancreatography (ERCP), respectively. However, follow-up periods should be extended to ensure long-term outcomes.</p><p><strong>Conclusions: </strong>Our study indicated that attention should be paid to pediatric patients with normal body weight, and individualized therapeutic approaches should be promoted in the management of pediatric cholelithiasis. Conservative observation should be the first-line treatment, cholecystectomy is effective for severe conditions such as severe pur","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 10","pages":"2546-2560"},"PeriodicalIF":1.7,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12597193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Neuroblastoma is the most prevalent extracranial solid tumor in children. This study aims to assess the global burden of neuroblastoma in 2021.
Methods: We utilized data from the Global Burden of Disease (GBD) 2021 study to collect the incidence, prevalence, mortality, and disability-adjusted life years (DALYs) of neuroblastoma, and calculated the estimated annual percentage change (EAPC). The neuroblastoma burden was then assessed using decomposition analysis and inequality analysis. Additionally, we forecast neuroblastoma trends from 2022 to 2036.
Results: In 2021, an estimated 51,762 [95% uncertain interval (UI): 34,704.53-70,435.21] cases of neuroblastoma were reported globally among individuals under 14 years of age, with 5,560 (95% UI: 3,734.21-7,560.03) new cases and an estimated 1,977 (95% UI: 1,445.04-2,528.54) deaths. From 1990 to 2021, the global burden of neuroblastoma showed an upward trend. Only the high socio-demographic index (SDI) region exhibited a declining trend in disease burden, with an EAPC for incidence of -0.81 (-1.05 to -0.56). India had the highest number of new cases, total cases, and deaths among 204 countries. Decomposition analysis indicated that population growth and epidemiological changes are the primary drivers of the disease burden. Inequality analysis indicates an increasing burden of neuroblastoma in low-SDI countries. The actual number of cases is expected to continue increasing. By 2036, the age-standardized prevalence rate (ASPR) is projected to be 2.83 per 100,000 for males and 2.18 per 100,000 for females.
Conclusions: This study highlights the increasing global neuroblastoma case numbers and the inequities in disease distribution. These insights may guide the development of more effective public health policies.
{"title":"Temporal trends in cross-country inequalities of neuroblastoma burden in children under 14 years of age from 1990 to 2021.","authors":"Siqi Zhang, Hongshuai Jia, Xiong Zhu, Guang Yue, Kaixin Peng, Pin Li, Yuandong Tao, Huixia Zhou","doi":"10.21037/tp-2025-178","DOIUrl":"10.21037/tp-2025-178","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma is the most prevalent extracranial solid tumor in children. This study aims to assess the global burden of neuroblastoma in 2021.</p><p><strong>Methods: </strong>We utilized data from the Global Burden of Disease (GBD) 2021 study to collect the incidence, prevalence, mortality, and disability-adjusted life years (DALYs) of neuroblastoma, and calculated the estimated annual percentage change (EAPC). The neuroblastoma burden was then assessed using decomposition analysis and inequality analysis. Additionally, we forecast neuroblastoma trends from 2022 to 2036.</p><p><strong>Results: </strong>In 2021, an estimated 51,762 [95% uncertain interval (UI): 34,704.53-70,435.21] cases of neuroblastoma were reported globally among individuals under 14 years of age, with 5,560 (95% UI: 3,734.21-7,560.03) new cases and an estimated 1,977 (95% UI: 1,445.04-2,528.54) deaths. From 1990 to 2021, the global burden of neuroblastoma showed an upward trend. Only the high socio-demographic index (SDI) region exhibited a declining trend in disease burden, with an EAPC for incidence of -0.81 (-1.05 to -0.56). India had the highest number of new cases, total cases, and deaths among 204 countries. Decomposition analysis indicated that population growth and epidemiological changes are the primary drivers of the disease burden. Inequality analysis indicates an increasing burden of neuroblastoma in low-SDI countries. The actual number of cases is expected to continue increasing. By 2036, the age-standardized prevalence rate (ASPR) is projected to be 2.83 per 100,000 for males and 2.18 per 100,000 for females.</p><p><strong>Conclusions: </strong>This study highlights the increasing global neuroblastoma case numbers and the inequities in disease distribution. These insights may guide the development of more effective public health policies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 10","pages":"2489-2503"},"PeriodicalIF":1.7,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12597190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-31Epub Date: 2025-10-29DOI: 10.21037/tp-2025-438
Hao Dong, Ying Zhang, Luo-Man Yan, Hai-Yan Zhang, Lei Zhang
Background: Severe Mycoplasma pneumoniae pneumonia (SMPP) can be complicated by plastic bronchitis (PB), posing a serious threat to children's health. Early identification of PB is crucial. This study aimed to clarify the clinical characteristics and independent risk factors for PB in children with SMPP, to facilitate early clinical recognition.
Methods: A retrospective analysis was conducted on 115 children diagnosed with SMPP and admitted to Chengdu Women's and Children's Central Hospital between January 2023 and March 2024. Based on bronchoscopy results, patients were divided into a PB group and a non-PB group. Clinical characteristics were compared between the two groups. Binary logistic regression was used to identify independent risk factors and construct a predictive model. The predictive performance was evaluated using the receiver operating characteristic (ROC) curve.
Results: In children of the PB group, fever duration, peak fever, neutrophil percentage (N%), neutrophil-lymphocyte ratio (NLR), C-reactive protein (CRP), procalcitonin (PCT), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), and D-dimer levels, as well as the incidence of unilateral lung involvement [computed tomography (CT) findings: consolidation involving >2/3 volume of the unilateral lung, presenting with uniform opacity accompanied by air bronchogram, which may or may not be associated with atelectasis], distal bronchial occlusion, pleural effusion, and the usage rate of doxycycline were all significantly higher than those in the non-PB group (P<0.05). There were no significant differences in gender, age, lung function, or fractional exhaled nitric oxide (FeNO) levels between the two groups (P>0.05). Binary logistic regression indicated that fever duration >6 days, LDH >289 U/L, and unilateral lung involvement were independent risk factors for PB (P<0.05). ROC curve analysis showed that the area under the curve (AUC) for the combined prediction of these three factors was 0.864, with a sensitivity of 86% and a specificity of 78.8%.
Conclusions: This study confirms that fever duration, LDH levels, and unilateral lung involvement serve as independent risk factors for PB complicating SMPP in children. By integrating a multidimensional assessment system encompassing clinical manifestations, laboratory parameters, and imaging characteristics, the established model facilitates early identification of PB risk, providing a critical time window for clinical intervention.
{"title":"Clinical characteristics and risk factor analysis of children with severe <i>Mycoplasma pneumoniae</i> pneumonia complicated by plastic bronchitis.","authors":"Hao Dong, Ying Zhang, Luo-Man Yan, Hai-Yan Zhang, Lei Zhang","doi":"10.21037/tp-2025-438","DOIUrl":"10.21037/tp-2025-438","url":null,"abstract":"<p><strong>Background: </strong>Severe <i>Mycoplasma pneumoniae</i> pneumonia (SMPP) can be complicated by plastic bronchitis (PB), posing a serious threat to children's health. Early identification of PB is crucial. This study aimed to clarify the clinical characteristics and independent risk factors for PB in children with SMPP, to facilitate early clinical recognition.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 115 children diagnosed with SMPP and admitted to Chengdu Women's and Children's Central Hospital between January 2023 and March 2024. Based on bronchoscopy results, patients were divided into a PB group and a non-PB group. Clinical characteristics were compared between the two groups. Binary logistic regression was used to identify independent risk factors and construct a predictive model. The predictive performance was evaluated using the receiver operating characteristic (ROC) curve.</p><p><strong>Results: </strong>In children of the PB group, fever duration, peak fever, neutrophil percentage (N%), neutrophil-lymphocyte ratio (NLR), C-reactive protein (CRP), procalcitonin (PCT), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), and D-dimer levels, as well as the incidence of unilateral lung involvement [computed tomography (CT) findings: consolidation involving >2/3 volume of the unilateral lung, presenting with uniform opacity accompanied by air bronchogram, which may or may not be associated with atelectasis], distal bronchial occlusion, pleural effusion, and the usage rate of doxycycline were all significantly higher than those in the non-PB group (P<0.05). There were no significant differences in gender, age, lung function, or fractional exhaled nitric oxide (FeNO) levels between the two groups (P>0.05). Binary logistic regression indicated that fever duration >6 days, LDH >289 U/L, and unilateral lung involvement were independent risk factors for PB (P<0.05). ROC curve analysis showed that the area under the curve (AUC) for the combined prediction of these three factors was 0.864, with a sensitivity of 86% and a specificity of 78.8%.</p><p><strong>Conclusions: </strong>This study confirms that fever duration, LDH levels, and unilateral lung involvement serve as independent risk factors for PB complicating SMPP in children. By integrating a multidimensional assessment system encompassing clinical manifestations, laboratory parameters, and imaging characteristics, the established model facilitates early identification of PB risk, providing a critical time window for clinical intervention.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 10","pages":"2561-2571"},"PeriodicalIF":1.7,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12597197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}