World Journal of Pediatrics最新文献

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Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept. behaperet的谱系障碍:遗传和免疫学见解到一个新兴的疾病概念。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-06-01 Epub Date: 2026-06-23 DOI: 10.1007/s12519-026-01035-4
Hui-Nan Zhang, Si-Hao Gao, Wei Wang, Guo-Ying Huang, Hong-Mei Song
{"title":"Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept.","authors":"Hui-Nan Zhang, Si-Hao Gao, Wei Wang, Guo-Ying Huang, Hong-Mei Song","doi":"10.1007/s12519-026-01035-4","DOIUrl":"10.1007/s12519-026-01035-4","url":null,"abstract":"<p><strong>Background: </strong>Behçet's spectrum disorders (BSD) describe a conceptual framework encompassing inflammatory conditions with overlapping clinical and genetic features with Behçet's disease. First introduced in 2020, the BSD concept was proposed to contextualize BD-like inflammation in pediatric and early-onset cases by linking clinical phenotypes to shared immune pathways and supporting earlier prioritization of genetic evaluation.</p><p><strong>Data sources: </strong>A literature search was conducted in the PubMed and CNKI database using the following keywords: \"Behçet's spectrum disorders\", \"Behçet's disease\", \"BD-like disease\".</p><p><strong>Results: </strong>We found several pediatric inflammatory disorders with Behçet-like mucocutaneous, gastrointestinal, or vasculitis symptoms that overlap with Behçet disease in key immunopathogenic pathways. Based on these findings, Behçet's spectrum disorders (BSD) are conceptualized as a mechanism-oriented framework encompassing a group of immune-mediated inflammatory conditions characterized by partial overlap with Behçet disease in clinical manifestations and immunopathogenic mechanisms. Within this spectrum, disorders cluster into two tiers: core BSD comprising monogenic diseases with recurrent mucosal ulceration and direct convergence on BD-defining pathways (including haploinsufficiency of A20, RELA, or NFKB1 haploinsufficiency, and ELF4 deficiency); peripheral BSD encompassing conditions with partial clinical overlap or indirect mechanistic proximity, such as polygenic disorders (recurrent aphthous stomatitis and PFAPA), BD-like vasculitic conditions such as DADA2 (deficiency of adenosine deaminase 2), and chromosomal abnormalities exemplified by trisomy 8. Although they are often misdiagnosed as Behçet disease, these conditions are biologically separate disorders that nonetheless share similar mucosal immune dysregulation.</p><p><strong>Conclusions: </strong>The BSD framework may help to facilitate earlier recognition and precise diagnosis of BD-related disorders in children, particularly those with atypical or syndromic presentations. The BSD framework integrates these insights to support earlier genetic screening and mechanism-guided management. However, this framework is not intended to replace current diagnostic criteria, but rather to support earlier recognition of BD-like phenotypes in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"613-629"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148309798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diaphragm in sudden unexpected infant and fetal death. 横膈膜在婴儿和胎儿猝死中的作用。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-06-01 Epub Date: 2026-07-01 DOI: 10.1007/s12519-026-01061-2
Giulia Ottaviani, Patrizia Leonardi
{"title":"Diaphragm in sudden unexpected infant and fetal death.","authors":"Giulia Ottaviani, Patrizia Leonardi","doi":"10.1007/s12519-026-01061-2","DOIUrl":"10.1007/s12519-026-01061-2","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"707-708"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148370115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screen viewing time from age 1 to 8 years and subsequent academic performance and working memory. 从1岁到8岁的屏幕观看时间和随后的学习成绩和工作记忆。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-06-03 DOI: 10.1007/s12519-026-01046-1
Shuai Yang, Natarajan Padmapriya, Seang-Mei Saw, Yap Seng Chong, Lynette P Shek, Peter D Gluckman, Keith M Godfrey, Johan G Eriksson, Falk Müller-Riemenschneider, Evelyn C Law, Jonathan Y Bernard
{"title":"Screen viewing time from age 1 to 8 years and subsequent academic performance and working memory.","authors":"Shuai Yang, Natarajan Padmapriya, Seang-Mei Saw, Yap Seng Chong, Lynette P Shek, Peter D Gluckman, Keith M Godfrey, Johan G Eriksson, Falk Müller-Riemenschneider, Evelyn C Law, Jonathan Y Bernard","doi":"10.1007/s12519-026-01046-1","DOIUrl":"10.1007/s12519-026-01046-1","url":null,"abstract":"<p><strong>Background: </strong>Screen viewing time is associated with children's academic and cognitive outcomes, but longitudinal studies are scarce, hindering identification of the most sensitive age periods. We assessed the associations of single and cumulative average screen viewing time with academic performance and working memory.</p><p><strong>Methods: </strong>In the Growing Up in Singapore Towards healthy Outcomes birth cohort, parents reported their child's screen viewing time at ages 1, 1.5, 2, 3, 6 and 8 years. At ages 9 and 10.5, trained psychologists assessed academic performance (Wechsler Individual Achievement Test-Third Edition) and working memory (Letter-Number Sequencing task; Wechsler Intelligence Scale for Children-Fifth Edition). Associations of single and cumulative average screen viewing time with psychological outcomes were examined by multivariable linear regression (N = 502 children).</p><p><strong>Results: </strong>Mean (standard deviation) screen viewing time ranged from 2.1 (2.0) hours/day at age 1 year, to 3.0 (2.2) hours/day at 8 years. In unadjusted models, higher screen viewing time from age 1 to 8 years was consistently associated with poorer academic performance at age 9 years and working memory at 10.5 years. After adjustment, effect sizes were reduced, but higher screen viewing time at ages 1 year [β = - 1.47, 95% confidence interval (CI): - 2.37 to - 0.57 standard points per additional hour per day], 1.5 years (β = - 0.95, 95% CI: - 1.85 to - 0.06), and 6 years (β = - 0.88, 95% CI: - 1.55 to - 0.21) had persisting associations with poorer academic performance at age 9 years. Greater screen viewing time at ages 1 year (β = - 1.12, 95% CI: - 2.07 to - 0.17) and 6 years (β = - 1.01, 95% CI: - 1.71 to - 0.31) was associated with poorer working memory at age 10.5 years. Cumulative average exposure models showed that screen viewing time over childhood was consistently associated with poorer academic performance but not working memory.</p><p><strong>Conclusion: </strong>In this longitudinal study, cumulative average screen viewing time was associated with lower academic performance but not working memory, with the strongest effect sizes seen for single screen viewing time occurring in early infancy.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"522-535"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148158314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Supervised machine learning models for predicting sepsis-associated acute kidney injury in children: a real-world evaluation. 用于预测儿童败血症相关急性肾损伤的监督机器学习模型:一个真实世界的评估。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-05-18 DOI: 10.1007/s12519-026-01038-1
Dan Shi, Wei Gu, Xue-Jing Yang, Yan-Qun Sun, Jiang-Wen Yin, Hong-Jun Miao, Xu-Hua Ge
{"title":"Supervised machine learning models for predicting sepsis-associated acute kidney injury in children: a real-world evaluation.","authors":"Dan Shi, Wei Gu, Xue-Jing Yang, Yan-Qun Sun, Jiang-Wen Yin, Hong-Jun Miao, Xu-Hua Ge","doi":"10.1007/s12519-026-01038-1","DOIUrl":"10.1007/s12519-026-01038-1","url":null,"abstract":"<p><strong>Background: </strong>Sepsis-associated acute kidney injury (S-AKI) substantially increases mortality. The recent Phoenix criteria have redefined pediatric sepsis, yet AKI risk factors under this framework remain unclear. This study aimed to develop a machine learning (ML) model to identify key predictors of AKI in pediatric patients with sepsis as defined by the Phoenix criteria.</p><p><strong>Methods: </strong>This retrospective cohort study included 2424 pediatric patients with a diagnosis of sepsis, of whom 484 developed AKI according to Kidney Disease: Improving Global Outcomes criteria. Data from the first 24 hours of admission were analyzed. The cohort was randomly divided into a training set (70%) and a test set (30%). A least absolute shrinkage and selection operator-random forest hybrid approach selected features, and ten ML algorithms were developed and evaluated on the training set, with their performance subsequently validated on the test set. Model performance was assessed using area under the curve (AUC), accuracy, Brier score, and decision curve analysis. Shapley additive explanations (SHAP) analysis interpreted the optimal model.</p><p><strong>Results: </strong>Feature selection identified 13 key predictors, including SpO₂/FiO₂ ratio, international normalized ratio, procalcitonin, absolute neutrophil count, and mean arterial pressure. The categorical boosting (CatBoost) model achieved the best performance, with an AUC of 0.843 [95% confidence interval (CI) = 0.818-0.867] in the training set and 0.797 (95% CI = 0.755-0.839) in the test set. SHAP analysis highlighted procalcitonin and absolute neutrophil count as the most influential features. A web-based tool was created for clinical application.</p><p><strong>Conclusions: </strong>Based on the Phoenix criteria, we developed an interpretable CatBoost-based early prediction model and web tool for pediatric S-AKI using 13 clinical features. The model showed good predictive performance and provides a preliminary data-driven framework for S-AKI risk stratification. Future multi-center external validation is needed to confirm generalizability and explore feasibility of clinical integration.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"559-573"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147975640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Helicobacter pylori infection on gastric mucosal microbiota. 幽门螺杆菌感染对胃黏膜微生物群的影响。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-06-06 DOI: 10.1007/s12519-026-01050-5
Wei Zheng, Xiao-Rui He, Ji-Wei Zheng, Zhen-Ya Zhu, Di-Ya Ye, Xin-Yi Jia, Qian-Cheng Xu, Mi-Zu Jiang
{"title":"Effects of Helicobacter pylori infection on gastric mucosal microbiota.","authors":"Wei Zheng, Xiao-Rui He, Ji-Wei Zheng, Zhen-Ya Zhu, Di-Ya Ye, Xin-Yi Jia, Qian-Cheng Xu, Mi-Zu Jiang","doi":"10.1007/s12519-026-01050-5","DOIUrl":"10.1007/s12519-026-01050-5","url":null,"abstract":"<p><strong>Background: </strong>Helicobacter pylori (H. pylori) is a Gram-negative obligate pathogen that colonizes the human gastric environment. Its identification fundamentally altered the historical perception of the stomach as sterile, marking a pivotal shift in gastric microbial research. For 30 years, the dynamic interplay between this bacterium and the gastric lining has been a key research focus.</p><p><strong>Data sources: </strong>The development of next-generation sequencing and advanced bioinformatics has provided powerful, culture-independent tools for probing the intricate diversity of the gastric microbiome. Current investigations extensively cover microbe-microbe interactions within the stomach, the relationship between the resident microbiota and H. pylori, and the dialogue between the microbiome and the host.</p><p><strong>Results: </strong>This article reviews current evidence detailing how H. pylori infection reshapes the microbial community on the human gastric mucosa.</p><p><strong>Conclusion: </strong>Future research employing integrated multi-omics strategies is essential to unravel the long-term consequences of H. pylori on the mucosal ecosystem and host physiology.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"492-500"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148195254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Discrete subaortic stenosis: prognostic value of the left ventricular outflow tract gradient and implications for earlier surgical intervention. 离散性主动脉下狭窄:左心室流出道梯度的预后价值和早期手术干预的意义。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-06-11 DOI: 10.1007/s12519-026-01048-z
Yu-Tong Jiang, Ting-Ting Zhang, Li Zhang, Nan Xu, Bing Zhang, Jia-Qi Zhang, Ke-Ming Yang, Shou-Jun Li, Kun-Jing Pang
{"title":"Discrete subaortic stenosis: prognostic value of the left ventricular outflow tract gradient and implications for earlier surgical intervention.","authors":"Yu-Tong Jiang, Ting-Ting Zhang, Li Zhang, Nan Xu, Bing Zhang, Jia-Qi Zhang, Ke-Ming Yang, Shou-Jun Li, Kun-Jing Pang","doi":"10.1007/s12519-026-01048-z","DOIUrl":"10.1007/s12519-026-01048-z","url":null,"abstract":"<p><strong>Background: </strong>The optimal timing of surgery for discrete subaortic stenosis (DSS) is controversial due to limited evidence from large-scale trials. This study aimed to identify prognostic factors and reassess current surgical thresholds.</p><p><strong>Methods: </strong>A total of 508 patients with DSS, including 375 pediatric patients, who underwent surgery at a single tertiary center between May 2018 and March 2025 were retrospectively analyzed. The primary endpoint was a composite of DSS-related adverse events, and the secondary endpoint was aortic valve (AV) dysfunction. Multivariable Cox regression and receiver operating characteristic (ROC) analyses were used to identify predictors.</p><p><strong>Results: </strong>Over a mean follow-up period of 3.5 years, 19.2% of pediatric patients experienced the primary endpoint and 13.3% developed AV dysfunction. Left ventricular outflow tract gradients (LVOTG) ≥ 20 mmHg [hazards ratio (HR) = 4.0, 95% confidence interval (CI): 2.0-7.8, P < 0.001], ≥ 35 mmHg (HR = 6.1, 95% CI: 3.2-11.6, P < 0.001), and ≥ 50 mmHg (HR = 3.5, 95% CI: 1.9-6.4, P < 0.001) were all independently associated with adverse outcomes. Of note, an LVOTG ≥ 35 mmHg provided comparable prognostic accuracy to ≥ 50 mmHg (P = 0.180) but superior risk discrimination compared with 20 mmHg ≤ LVOTG < 35 mmHg (P < 0.001). Additional independent predictors included older age at surgery, moderate or greater aortic regurgitation.</p><p><strong>Conclusions: </strong>An LVOTG threshold of ≥ 35 mmHg may offer a more appropriate risk-alert threshold than the current ≥ 50 mmHg standard. Earlier surgical intervention, particularly in patients with AV involvement, may help improve long-term outcomes in DSS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"586-595"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13290889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148228503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Roots of chronic obstructive pulmonary disease: a pediatric problem with adult consequences. 慢性阻塞性肺疾病的根源:一个具有成人后果的儿科问题。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-05-13 DOI: 10.1007/s12519-026-01042-5
Vincenzo Fierro, Andrea Ficari, Alessandro Fiocchi, Carmen Mazzuca
{"title":"Roots of chronic obstructive pulmonary disease: a pediatric problem with adult consequences.","authors":"Vincenzo Fierro, Andrea Ficari, Alessandro Fiocchi, Carmen Mazzuca","doi":"10.1007/s12519-026-01042-5","DOIUrl":"10.1007/s12519-026-01042-5","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"489-491"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147934156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global and temporal trends in neonatal and under-five mortality due to birth asphyxia/trauma and prematurity (2000-2021) with projections up to 2040. 新生儿和五岁以下儿童因出生窒息/创伤和早产死亡的全球和时间趋势(2000-2021年),并预测到2040年。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-05-28 DOI: 10.1007/s12519-026-01045-2
Jaehyun Kong, Jiyeon Oh, Soeun Kim, Eunjin Kwak, Kyeongmin Lee, Tae Hyeon Kim, Seohyun Hong, Dongjin Yeo, Sunyoung Kim, Hyeon Seok Hwang, José Francisco López-Gil, Francesco Branda, Dong Keon Yon
{"title":"Global and temporal trends in neonatal and under-five mortality due to birth asphyxia/trauma and prematurity (2000-2021) with projections up to 2040.","authors":"Jaehyun Kong, Jiyeon Oh, Soeun Kim, Eunjin Kwak, Kyeongmin Lee, Tae Hyeon Kim, Seohyun Hong, Dongjin Yeo, Sunyoung Kim, Hyeon Seok Hwang, José Francisco López-Gil, Francesco Branda, Dong Keon Yon","doi":"10.1007/s12519-026-01045-2","DOIUrl":"10.1007/s12519-026-01045-2","url":null,"abstract":"<p><strong>Background: </strong>Despite substantial global progress in reducing neonatal mortality, the deceleration in neonatal mortality decline in many low- and middle-income countries threatens attainment of Sustainable Development Goal 3.2. Intrapartum-related events and complications of preterm birth remain the leading causes of neonatal deaths. Therefore, this study aimed to examine temporal trends in neonatal and under-five mortality due to birth asphyxia, trauma, and prematurity from 2000 to 2021, with projections to 2040.</p><p><strong>Methods: </strong>This study used the United Nations Inter-agency Group for Child Mortality Estimation (UN IGME) cause-of-death dataset, which provides standardized annual estimates of under-five and neonatal mortality from birth asphyxia/trauma and prematurity for 194 countries and territories between 2000 and 2021. Causes of death were defined according to the dataset's standardized classification. Country-specific mortality trends were examined in relation to four country-level indicators (the Socio-demographic Index, Human Development Index, Universal Health Coverage service coverage index, and Healthcare Access and Quality Index) using regression analyses. Temporal trends in cause-specific mortality were quantified using the estimated annual percentage change, and future mortality through 2040 was projected under three scenarios: (1) current-trend; (2) regional best-performer; (3) high-income country convergence based on country-specific annual rates of reduction.</p><p><strong>Results: </strong>Globally, neonatal mortality declined from 7.52 deaths per 1000 live births [90% uncertainty interval (90% UI): 7.13-7.88] to 4.18 (3.81-4.82) for birth asphyxia/trauma, and from 10.63 (10.05-11.33) to 6.49 (6.05-7.38) for prematurity between 2000 and 2021. West and Central Africa and Eastern and Southern Africa had the highest neonatal mortality in 2021 and achieved the slowest progress, whereas East Asia and Pacific and Eastern Europe and Central Asia had the most pronounced declines. Countries with lower sociodemographic and health system indicator values showed slower declines in mortality, while the greatest reductions were observed in those with intermediate-to-upper levels. Projections suggest that disparities could remain substantial by 2040 if current trends continue, although accelerated progress in high-burden regions could yield further reductions.</p><p><strong>Conclusion: </strong>Despite substantial progress since 2000, neonatal mortality from birth asphyxia/trauma and prematurity remains persistently high, particularly in Africa, but scenario analyses suggest that substantial reductions could be achieved if future declines follow trajectories observed in the best-performing settings.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"546-558"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148043958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric liver transplantation for metabolic diseases: a single-center experience. 儿童肝脏移植治疗代谢性疾病:单中心经验。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-06-13 DOI: 10.1007/s12519-026-01043-4
Gabriel E Gondolesi, Erica Chen, William Zhu, Chau Nguyen, Megan Song, Chelsea Sooy, Khalid Khan, Alexander Kroemer, Udeme Ekong, Brian Nguyen, Carolina Rumbo, Megan Johnson, Kathryn LaRusso, Lindsey Bledsoe, David Walls, Tammy Hanel, Michelle Eaton, Julia Clayton, Erin MacLeod, Kelly Weaver, Megha Fitzpatrick, Deborah Regier, Nicholas Ah Mew, Gabriel Hauser, Sumeet Gopwani, Cambria Heuston, Cal Matsumoto, Kimberly Chapman, Stuart S Kaufman, Nada Yazigi, Thomas Fishbein
{"title":"Pediatric liver transplantation for metabolic diseases: a single-center experience.","authors":"Gabriel E Gondolesi, Erica Chen, William Zhu, Chau Nguyen, Megan Song, Chelsea Sooy, Khalid Khan, Alexander Kroemer, Udeme Ekong, Brian Nguyen, Carolina Rumbo, Megan Johnson, Kathryn LaRusso, Lindsey Bledsoe, David Walls, Tammy Hanel, Michelle Eaton, Julia Clayton, Erin MacLeod, Kelly Weaver, Megha Fitzpatrick, Deborah Regier, Nicholas Ah Mew, Gabriel Hauser, Sumeet Gopwani, Cambria Heuston, Cal Matsumoto, Kimberly Chapman, Stuart S Kaufman, Nada Yazigi, Thomas Fishbein","doi":"10.1007/s12519-026-01043-4","DOIUrl":"10.1007/s12519-026-01043-4","url":null,"abstract":"<p><strong>Background: </strong>Inborn errors of metabolism (IEM) are rare enzymatic disorders that often result in severe multiorgan dysfunction and death in pediatric patients. While advances in medical therapy of IEM have improved considerably, pediatric liver transplantation (pLT) has become an established treatment for many metabolic conditions. This study aims to compare the prognosis of patients with and without IEM indications after pLT.</p><p><strong>Methods: </strong>A mixed retrospective and prospective cohort study of 330 pediatric patients who underwent pLT from 2003 to 2025 was performed. Patients were categorized into IEM and non-IEM cohorts, with the IEM group further stratified by indication into two subgroups: pLT indicated for primary progressive liver disease (IEM-LD) or for neuroprotection (IEM-NP). Clinical characteristics, perioperative variables, complications, and long-term outcomes were compared between groups, with additional analyses by cholestatic phenotype. Survival was assessed using Kaplan-Meier (KM) methods and compared using the log-rank test, and longitudinal outcomes were evaluated using generalized estimating equations.</p><p><strong>Results: </strong>Of 330 pLT recipients, 117 (35%) had IEM and 213 (65%) had non-IEM indications. IEM recipients had significantly fewer post-transplant vascular complications than non-IEM recipients and experienced shorter hospital stays (P = 0.016) and improved long-term patient (P = 0.040) and graft survival (P = 0.030). There were no differences in biliary complications, rejection episodes, cytomegalovirus (CMV) or Epstein Barr virus (EBV) disease, or post-transplant lymphoproliferative diseases (PTLD) between groups. Reduced-size grafts were used more frequently in IEM recipients (P < 0.002), whereas living-donor grafts were more common in non-IEM recipients (P < 0.003). Long-term metabolic and renal outcomes, including BMI, obesity, insulin use, and renal function, were similar between groups. Within the IEM cohort, IEM-NP recipients had improved patient survival (P = 0.020) compared with IEM-LD, with no difference in graft survival. IEM-NP recipients demonstrated reduced dependence on restrictive diets and disease-specific medications.</p><p><strong>Conclusions: </strong>Liver transplantation has become an effective intervention strategy for many IEMs that are refractory to conventional non-surgical management. This progress has been facilitated by advances in surgical techniques, immunosuppression, close collaboration between transplant and metabolic disease teams, and innovative organ sourcing. Our findings further support pLT as a cornerstone therapy for IEM patients. Ongoing assessment of optimal timing, technical strategies, and follow-up after pLT may further improve patients' prognoses and quality of life.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"574-585"},"PeriodicalIF":7.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148253587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency. 生化和遗传结合分析提高了多种酰基辅酶a脱氢酶缺乏症的早期诊断和产前评估。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-05-01 Epub Date: 2026-05-29 DOI: 10.1007/s12519-026-01032-7
Ting Chen, Man-Qing Sun, Feng Xu, Li-Li Hao, Li-Li Liang, Kai-Chuang Zhang, Yi Yang, Yu-Ning Sun, Rui-Fang Wang, Xue-Fan Gu, Yong-Lan Huang, Hui Zou, Bao-Sheng Zhu, Xiao-Hua Wang, Jing-Kun Miao, Ji-Zhen Feng, Ci-Dan Huang, Chun-Na Fan, Wen-Juan Qiu, Lian-Shu Han
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