Translational pediatrics最新文献

{"title":"Inflammatory marker profiles in immunocompetent hospitalized children with adenovirus infection and association with hospitalization outcomes.","authors":"Zixuan Wang, Yuanjie Zhou, Yajuan Zhou, Lijuan Luo, Qing Cao","doi":"10.21037/tp-2026-0539","DOIUrl":"10.21037/tp-2026-0539","url":null,"abstract":"<p><strong>Background: </strong>Adenovirus (ADV) infection can cause substantial systemic inflammation in children, but evidence remains limited regarding early inflammatory marker profiles and their relationship with hospitalization outcomes among immunocompetent hospitalized children. This study investigated inflammatory markers at admission and their associations with length of hospital stay and hospitalization costs, with costs treated as an exploratory secondary economic outcome.</p><p><strong>Methods: </strong>This single-center retrospective observational study consecutively enrolled immunocompetent children hospitalized in the Department of Infectious Diseases, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, from January 1, 2024 to July 31, 2025. Eligible patients had ADV DNA positivity in respiratory specimens within 24 hours after admission, a cycle threshold value ≤35, and clinical findings consistent with acute infection. Demographic data, clinical diagnoses, co-detected pathogens, inflammatory markers, treatment information, length of hospital stay, and hospitalization costs were collected. Between-group comparisons, Spearman correlation analysis, and multivariable linear regression were performed.</p><p><strong>Results: </strong>A total of 145 children were included; 83 (57.24%) were male, and the median age was 61 (36, 84) months. Lower respiratory tract infection was diagnosed in 115 cases (79.31%). ADV mono-infection was identified in 82 cases (56.55%), and co-detection of other pathogens in 63 cases (43.45%). Elevated white blood cell counts (WBCs), C-reactive protein (CRP), ferritin, and interleukin-6 (IL-6) were observed in 54.48%, 85.52%, 53.10%, and 95.86% of patients, respectively, whereas only 2 children had procalcitonin (PCT) ≥2.0 µg/L. Major inflammatory markers did not differ significantly between upper and lower respiratory tract infection groups or between ADV mono-infection and co-detection groups. Interferon-γ was lower in children aged <1 year than in the 1-3-year and 6-12-year groups. The median length of hospital stay was 4 [interquartile range (IQR): 2.5, 6] days, and the median hospitalization cost was 7,950.94 (6,751.66, 10,004.84) yuan. In multivariable analysis, co-detection of other pathogens, IL-6, and interleukin-8 (IL-8) were independently associated with both outcomes.</p><p><strong>Conclusions: </strong>Immunocompetent hospitalized children with ADV infection commonly showed elevated CRP, IL-6, and ferritin, while marked PCT elevation was uncommon. IL-6, IL-8, and co-detection of other pathogens were associated with a longer hospital stay, but their predictive utility and relationship to disease severity were not evaluated. Their associations with hospitalization costs should be interpreted as exploratory economic findings.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"304"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931141","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}

{"title":"Response to letter regarding \"Development and internal validation of a prognostic nomogram for poor outcomes in neonatal bacterial meningitis\".","authors":"Min Yu, Yiping Fang, Xiaofeng Yang","doi":"10.21037/tp-2026-0683","DOIUrl":"10.21037/tp-2026-0683","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"358"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931229","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}

{"title":"Predictive value of neutrophil-to-lymphocyte ratio and fibrinogen degradation products for renal involvement in pediatric immunoglobulin A vasculitis.","authors":"Guangbo Li, Jianying Liao, Zhuqin Zhan, Jinhua Zeng, Dequan Su","doi":"10.21037/tp-2026-0533","DOIUrl":"10.21037/tp-2026-0533","url":null,"abstract":"<p><strong>Background: </strong>Immunoglobulin A vasculitis nephritis (IgAVN) is the most severe complication of IgA vasculitis (IgAV) in children, yet early predictors of renal involvement remain limited. The aim of this study is to analyse the risk factors for the development of IgAVN in children with IgAV, with a view to improving early diagnosis and treatment, reducing complications and enhancing patient prognosis.</p><p><strong>Methods: </strong>This was a retrospective analysis. A total of 100 pediatric patients with IgAV hospitalized at Children's Hospital of Fudan University Xiamen Branch (Xiamen Children's Hospital) between January 2023 and June 2025 were included in the study. Patients were divided into two groups based on the presence or absence of IgAVN. Clinical characteristics and laboratory parameters were collected. Risk factors were identified using univariate and multivariate analyses, and a risk prediction model was established using logistic regression. Model performance was evaluated using the area under the receiver operating characteristic (ROC) curve (AUC).</p><p><strong>Results: </strong>A total of 100 children with IgAV were ultimately included in this study, comprising 56 males and 44 females. They were divided into an IgAVN group (n=32) and a non-IgAVN group (n=68). Univariate analysis revealed that three laboratory parameters [C‑reactive protein (CRP), neutrophil‑to‑lymphocyte ratio (NLR), fibrinogen degradation products (FDP)] showed statistically significant differences between the IgAVN and non-IgAVN groups (P<0.05). We included the three laboratory parameters (CRP, NLR, and FDP) that showed statistically significant differences in the univariate analysis into the multivariate analysis and found that elevated NLR [odds ratio: odds ratio (OR) =1.446, 95% confidence interval (CI): 1.080-1.934, P=0.01] and elevated FDP (OR =1.854, 95% CI: 1.133-3.034, P=0.01) were independent risk factors for the development of IgAVN in children with IgAV. ROC curve analysis results showed that the AUCs for NLR >5.23 and FDP >12.35 µg/mL were 0.634 and 0.830, respectively, while the AUC for the combined NLR and FDP model was 0.882. Compared with individual indicators, the combined model demonstrated superior predictive value for IgAVN, with a sensitivity of 86.95% and a specificity of 87.40%.</p><p><strong>Conclusions: </strong>Elevated NLR and FDP are independent risk factors for the development of IgAVN in patients with IgAV. The combination of NLR >5.23 and FDP >12.35 µg/mL demonstrates good clinical predictive value for IgAVN and warrants attention from clinicians.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"319"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931265","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}

{"title":"A machine learning-based early in-hospital risk stratification model for severe mycoplasma pneumoniae pneumonia in children.","authors":"Weichun Li, Tingting Xu, Rui Xin, Tao Yan, Xu Yang","doi":"10.21037/tp-2026-0333","DOIUrl":"10.21037/tp-2026-0333","url":null,"abstract":"<p><strong>Background: </strong>Mycoplasma pneumoniae pneumonia (MPP) is a common cause of community-acquired pneumonia in children. Although most children recover after routine treatment, some develop severe MPP (SMPP), which is associated with greater complications and treatment burden. Early identification of children at high risk of SMPP remains clinically important. This study aimed to develop an early in-hospital prediction model for SMPP using routine clinical data.</p><p><strong>Methods: </strong>This single-center retrospective study included 98 hospitalized children with MPP at Chuzhou Hospital Affiliated to Anhui Medical University between February 2022 and July 2023, including 49 with SMPP and 49 with non-severe MPP. SMPP status during hospitalization was used as the study outcome. Candidate predictors were obtained from routinely available early in-hospital clinical data, and five predictors were finally retained for model development: basophil absolute count (BASO), platelet count (PLT), atelectasis, pleural effusion, and extrapulmonary complications (EXCP). The dataset was randomly split into training and validation sets at a ratio of 7:3, and seven machine learning models were developed and compared.</p><p><strong>Results: </strong>Five variables were selected: BASO, platelet count, atelectasis, pleural effusion, and EXCP. Based on overall performance, the multilayer perceptron model was selected for further optimization. The optimized model showed an area under the curve of 0.971 in the training set and 0.933 in the validation set, which should be interpreted as exploratory internal estimates because of the small dataset and the absence of external validation. SHapley Additive exPlanations (SHAP) analysis indicated that higher PLT and the presence of atelectasis, pleural effusion, and EXCP were associated with higher predicted risk, whereas higher BASO was associated with lower predicted risk.</p><p><strong>Conclusions: </strong>This study developed an exploratory multivariable machine learning model for early in-hospital severity risk stratification of children with MPP. Because of the limited sample size, small validation cohort, and clinical proximity between several retained predictors and the SMPP severity framework, the model should be interpreted as a structured auxiliary tool for in-hospital risk stratification rather than a stable prognostic model or a replacement for routine clinical judgment. Further external validation and clinical utility assessment in larger multicenter cohorts are required before broader clinical application.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"329"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931134","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}

{"title":"Early mortality-associated factors in pediatric fulminant myocarditis patients treated with venoarterial extracorporeal membrane oxygenation: a single-center retrospective cohort study.","authors":"Huiling Zhang, Sheng Ye, Zihao Yang","doi":"10.21037/tp-2026-0457","DOIUrl":"10.21037/tp-2026-0457","url":null,"abstract":"<p><strong>Background: </strong>Fulminant myocarditis (FM) is a life-threatening pediatric condition that may progress rapidly to cardiogenic shock and multiorgan dysfunction. This study evaluated early clinical and laboratory factors associated with in-hospital mortality among pediatric FM patients treated with venoarterial extracorporeal membrane oxygenation (VA-ECMO).</p><p><strong>Methods: </strong>We retrospectively reviewed 44 consecutive children (<18 years) with FM treated with VA-ECMO from 2018 to 2025. Continuous variables are presented as median (interquartile range) and compared using the Mann-Whitney U test. Because only 7 deaths occurred, regression analyses were prespecified as exploratory. Least absolute shrinkage and selection operator (LASSO) was used for variable screening, followed by univariable and exploratory 3-variable logistic models. Receiver operating characteristic (ROC) analysis was used to describe discrimination of selected admission markers.</p><p><strong>Results: </strong>Thirty-seven patients survived to discharge and seven died in hospital, yielding an in-hospital survival rate of 84.1%. Compared with survivors, non-survivors had lower admission systolic blood pressure [73 (64-81) <i>vs.</i> 90 (83-105) mmHg, P=0.003], lower left ventricular ejection fraction (LVEF) [31.0% (29.5-34.0%) <i>vs.</i> 49.0% (40.0-55.0%), P=0.002], and higher blood urea nitrogen (BUN) [14.2 (9.7-15.1) <i>vs.</i> 7.3 (5.8-8.7) mmol/L, P=0.01]. In univariable logistic models, systolic blood pressure (SBP), LVEF, and BUN were associated with in-hospital mortality; however, estimates were imprecise after exploratory adjustment because of the limited number of events. The areas under the curve (AUCs) for SBP, LVEF, and BUN were 0.86, 0.87, and 0.79, respectively.</p><p><strong>Conclusions: </strong>Admission SBP, LVEF, and BUN were early markers associated with in-hospital mortality in this single-center cohort of pediatric FM patients treated with VA-ECMO. These findings should be interpreted as hypothesis-generating rather than definitive prognostic evidence and require validation in larger multicenter cohorts.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"336"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931209","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}

{"title":"The global landscape of pediatric hyperuricemia research: a bibliometric roadmap to mechanisms, management, and future therapeutics (1997-2024).","authors":"Liang Xiao, Wei Lu, Junli Wang, Shengyou Yu","doi":"10.21037/tp-2026-0255","DOIUrl":"10.21037/tp-2026-0255","url":null,"abstract":"<p><strong>Background: </strong>Pediatric hyperuricemia has emerged as a significant global health concern, intricately linked to the early pathogenesis of metabolic syndrome, cardiovascular disease, and chronic kidney disease. Despite extensive research in adults, critical gaps persist in our understanding of its unique pathophysiology, age-specific diagnostic criteria, and evidence-based management strategies in children. This study aims to provide a comprehensive, quantitative assessment of the global research landscape on pediatric hyperuricemia, identify pivotal thematic foci, and map emerging frontiers to guide future scientific inquiry and clinical translation.</p><p><strong>Methods: </strong>We conducted a systematic bibliometric and visual analysis of all relevant articles and reviews indexed in the Web of Science Core Collection (WoS CC) from inception to December 20, 2024. Data were synthesized using VOSviewer, CiteSpace, and the Bibliometrix R package to construct collaboration networks, perform co-citation analyses, and track keyword evolution.</p><p><strong>Results: </strong>Our analysis identified 189 publications, revealing a trajectory of fluctuating but overall increasing scholarly attention. China (n=47) and the United States (n=43) were the most prolific contributors, with St. Jude Children's Research Hospital and Harvard University leading institutional output. Authors Simonetta Genovesi and Marco Giussani were the most productive. Keyword co-occurrence analysis delineated three dominant research clusters: (I) core clinical management (\"hyperuricemia\", \"allopurinol\", \"rasburicase\"); (II) cardiometabolic comorbidities (\"obesity\", \"hypertension\", \"metabolic syndrome\"); and (III) epidemiological and risk factor profiling (\"children\", \"uric acid\", \"prevalence\"). Notably, recent years have witnessed an emergent focus on long-term sequelae, including \"chronic kidney disease\" and \"acute kidney injury\".</p><p><strong>Conclusions: </strong>Research into pediatric hyperuricemia remains nascent yet is rapidly gaining momentum. Our roadmap highlights four critical frontiers: elucidating developmental-stage-specific pathological mechanisms, establishing validated diagnostic thresholds, evaluating the long-term safety and efficacy of both pharmacological and non-pharmacological interventions, and defining strategies for lifelong management to mitigate adult-onset complications. We advocate for enhanced international and interdisciplinary collaboration as the cornerstone for accelerating progress in this vital field.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"339"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931257","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}

{"title":"Whole-exome sequencing-centered genetic evaluation for early-onset obesity in Chinese children: a retrospective single-center cohort.","authors":"Si Chen, Jing Zhang, Liyuan Ge, Zhonghui Li, Liuxu Wang, Xinran Cheng","doi":"10.21037/tp-2026-0407","DOIUrl":"10.21037/tp-2026-0407","url":null,"abstract":"<p><strong>Background: </strong>Genetic causes of early-onset obesity remain undercharacterized in East Asian children. This study evaluated a whole-exome sequencing (WES)-centered diagnostic workflow in Chinese children with obesity onset before 5 years.</p><p><strong>Methods: </strong>Consecutive children with body mass index above the 95th percentile and obesity onset before 5 years who completed structured inpatient assessment at a single center between February 2022 and December 2023 were retrospectively analyzed. Phenotyping included clinical, biochemical, oral glucose tolerance, cortisol rhythm, and liver assessments. Genetic testing combined WES, mitochondrial DNA analysis, multiplex ligation-dependent probe amplification (MLPA) for obesity-related imprinting loci, WES-based copy-number variant and runs-of-homozygosity analyses, and Sanger validation. Variants were interpreted according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria.</p><p><strong>Results: </strong>Among 23 children, clinically relevant genetic findings were identified in 6 (26.1%): melanocortin-4 receptor (MC4R) c.831T>A (p.C277*), maternal uniparental disomy of 15q11-13, and four phenotype-correlated variants of uncertain significance in UCP3, BBS1, NCOA1, and SH2B1. The definitive/likely diagnostic yield, restricted to pathogenic or confirmed imprinting findings, was 8.7% (2/23). Findings involved leptin-MC4R signaling, BBSome function, fatty-acid oxidation, and chromosomal imprinting. Genetically positive children showed numerically higher alanine aminotransferase (ALT) and aspartate aminotransferase (AST), but differences were not statistically significant. BBS1 p.T374S was relatively enriched in East Asian reference data.</p><p><strong>Conclusions: </strong>A WES-centered integrated workflow detected heterogeneous genetic mechanisms in Chinese children with early-onset obesity, but variant of uncertain significance (VUS)-associated findings should be distinguished from confirmed diagnoses. Orthogonal methylation/MLPA and runs of homozygosity (ROH) analyses were necessary for imprinting diagnosis. Larger multicenter studies and functional validation are needed.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"330"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931274","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}

{"title":"Clinical characteristics and prognosis of infant onset inflammatory bowel disease in Chinese children: a 10-year single-center experience.","authors":"Junye Du, Dexiu Guan, Xiaolin Ye, Tianzhuo Zhang, Jie Wu","doi":"10.21037/tp-2026-0540","DOIUrl":"10.21037/tp-2026-0540","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Infant-onset inflammatory bowel disease (IO-IBD) is a rare, severe subtype of pediatric IBD with insufficient clinical and genetic data in northern China. This study aimed to investigate the clinical characteristics, gene mutation spectrum, treatment responses and long-term prognosis of IO-IBD in children in northern China, and to provide evidence-based basis for the standardized diagnosis and treatment of this disease.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A retrospective analysis was conducted on the clinical data of 98 children diagnosed with IO-IBD in Beijing Children's Hospital from January 2016 to December 2025. According to clinical phenotypes, the patients were divided into Crohn's disease (CD) phenotype and ulcerative colitis (UC) phenotype. The clinical features, laboratory examinations, treatment regimens and prognoses were compared between the two groups. Whole-exome sequencing or IBD gene panel testing was performed on 77 children to analyze the differences in clinical characteristics and prognoses between monogenic and non-monogenic IO-IBD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among the 98 children with IO-IBD, 64 (65.3%) had CD phenotype and 34 (34.7%) had UC phenotype. The median age of onset in the entire cohort was 4 months. There was no significant difference in the median age of onset between CD and UC phenotype children (5.0 &lt;i&gt;vs.&lt;/i&gt; 4.0 months, P=0.16), but the incidence rates of perianal lesions and penetrating disease behavior were significantly higher in the CD group. Among the 77 children who underwent genetic testing, 39 (50.6%) were identified with definite monogenic mutations, of which &lt;i&gt;IL-10RA&lt;/i&gt; gene mutations accounted for 84.6% (33/39). Children with monogenic IO-IBD had more severe disease conditions. The median Pediatric Crohn's Disease Activity Index (PCDAI) score in CD phenotype (60, 49.0-67.5 &lt;i&gt;vs.&lt;/i&gt; 32.5, 22.5-42.5; P&lt;0.01), median Pediatric Ulcerative Colitis Activity Index (PUCAI) score in UC phenotype (47.5, 35.0-65.0 &lt;i&gt;vs.&lt;/i&gt; 35, 25.0-45.0; P=0.02) and mortality rate (28.21%, 14.7-45.3% &lt;i&gt;vs.&lt;/i&gt; 1.72%, 0.04-9.2%; P&lt;0.01) were significantly higher than those in non-monogenic children. Among the 33 children with &lt;i&gt;IL-10RA&lt;/i&gt; gene mutations, 6 successfully underwent allogeneic hematopoietic stem cell transplantation (HSCT), with an overall survival rate of 100% (54.1-100%). For the remaining 27 patients who did not receive HSCT, 14 died during follow-up, corresponding to a mortality rate of 51.9% (32.0-71.3%).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;IO-IBD in children in northern China is predominantly CD phenotype with a high proportion of monogenic causes, among which &lt;i&gt;IL-10RA&lt;/i&gt; mutations are dominant. Children with &lt;i&gt;IL-10RA&lt;/i&gt; mutations have more severe disease and higher mortality rates, and early HSCT can significantly improve their prognosis. It is recommended that all children with IO-IBD should routinely undergo &lt;i&gt;IL-10RA&lt;/i&gt; gene testing, and HSCT indications ","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"314"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931198","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}

{"title":"RNA sequencing resolves a novel noncanonical splice-region variant in <i>PHKA2</i> causing glycogen storage disease type IX α2: a case report.","authors":"Fan Chen, Jiayi He, Henghui Cheng, Sainan Shu","doi":"10.21037/tp-2026-0441","DOIUrl":"10.21037/tp-2026-0441","url":null,"abstract":"<p><strong>Background: </strong>Glycogen storage disease type IX α2 (GSD IX α2) is an X-linked hepatic glycogenosis caused by pathogenic variants in <i>PHKA2</i>. Noncanonical splice-region variants located outside the invariant GT/AG dinucleotides pose significant interpretive challenges, as <i>in silico</i> predictions alone are often insufficient for definitive classification.</p><p><strong>Case description: </strong>We report a 2.9-year-old boy presenting with short stature, hepatomegaly, markedly elevated aminotransferases, fasting hypoglycemia with ketonuria, hypercholesterolemia, coagulation parameter abnormalities (decreased fibrinogen and prolonged thrombin time), and histological evidence of early hepatic fibrosis as demonstrated by Masson's trichrome staining (portal fibrosis and perisinusoidal fibrosis). Whole-exome sequencing (WES) identified a hemizygous, previously unreported <i>PHKA2</i> variant [NM_000292.3:c.2517+5G>T, genomic location (GRCh38): NC_000023.11: g.18907895G>T], initially classified as a variant of uncertain significance (VUS) under American College of Medical Genetics and Genomics (ACMG) criteria. RNA sequencing of peripheral blood leukocytes demonstrated predominant exon 22 skipping in 94.2% of informative junction reads, predicting a frameshift and premature termination codon [p.(Gly788Profs*74)] with predicted loss of the C-terminal CBL 2 subdomain. Incorporating this transcript-level evidence, the variant was reclassified as pathogenic (PVS1 + PM2_Supporting + PP4). Following dietary management with uncooked cornstarch supplementation, the patient showed progressive biochemical improvement over a 2.2-year follow-up.</p><p><strong>Conclusions: </strong>This case expands the mutational spectrum of <i>PHKA2</i> and demonstrates that RNA sequencing of accessible tissues is a practical and diagnostically informative strategy for resolving noncanonical splice-region variants in pediatric hepatic GSD. Early hepatic fibrosis detected by histological examination before age 3 years underscores the importance of longitudinal hepatic surveillance in GSD IX α2.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"356"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931221","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}

{"title":"Clinical factors associated with extrapulmonary complications in children with macrolide-resistant <i>Mycoplasma pneumoniae</i> pneumonia: a single-center retrospective matched case-control study.","authors":"Tianfu Xu, Seyan Yan, Saiping Huang","doi":"10.21037/tp-2026-0451","DOIUrl":"10.21037/tp-2026-0451","url":null,"abstract":"<p><strong>Background: </strong>Extrapulmonary complications contribute substantially to the clinical burden of macrolide-resistant <i>Mycoplasma pneumoniae</i> pneumonia (R-MPP), but factors associated with these events and their combined discriminatory value remain insufficiently characterized. This study examined clinical, laboratory, radiographic, and treatment-related factors associated with extrapulmonary complications and developed a simplified classification model.</p><p><strong>Methods: </strong>This single-center retrospective matched case-control study included children aged 3-14 years hospitalized between January 2021 and June 2024. Among 684 potentially eligible children identified from electronic medical record and microbiology databases, 448 met the criteria for genotypically confirmed R-MPP. All 52 children who developed extrapulmonary complications during the index hospitalization were included as cases. From 396 children without complications, 156 controls were individually matched at a 1:3 ratio by sex, age within 6 months, and admission date within 30 days. Candidate variables included peak inflammatory biomarkers, nadir platelet count, respiratory and computed tomography (CT) severity, and intervals from symptom onset to medical consultation and macrolide initiation. Complete-case conditional logistic regression stratified by matched set was the primary analysis; least absolute shrinkage and selection operator (LASSO) was used for variable selection, and multiple imputation was performed as a sensitivity analysis.</p><p><strong>Results: </strong>Cases and controls were comparable in age, sex, admission period, nutritional status, residence, vaccination status, household tobacco exposure, and wheezing history. C-reactive protein (CRP) >100 mg/L [matched odds ratio (OR) =3.28; 95% confidence interval (CI): 1.70-6.34], lactate dehydrogenase (LDH) >400 U/L (OR =2.97; 95% CI: 1.56-5.65), macrolide initiation delay >7 days (OR =4.18; 95% CI: 2.16-8.08), and severe CT changes (OR =2.15; 95% CI: 1.08-4.29) were independently associated with complications. A three-variable model incorporating CRP, LDH, and macrolide delay achieved an optimism-corrected area under the receiver operating characteristic (ROC) curve (AUC) of 0.917, with 86.5% sensitivity and 88.5% specificity. A preliminary internal temporal assessment in 44 patients yielded an AUC of 0.892.</p><p><strong>Conclusions: </strong>Elevated CRP, elevated LDH, delayed macrolide initiation, and severe CT changes were associated with extrapulmonary complications in hospitalized children with R-MPP. The simplified model may support clinical classification, but the retrospective design, concurrent biomarker measurement, and limited temporal sample preclude causal interpretation or immediate implementation. Larger multicenter studies are required for formal validation.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"309"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931240","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}