Translational pediatrics最新文献

{"title":"Clinical determinants of severe vaso-occlusive crisis in pediatric sickle cell anemia: a retrospective cohort study.","authors":"Ebtihal Elameen Eltyeb, Sami Abdu Alhazmi, Hussain Ahmed Moafa, Gassem Ali Gohal, Mohammed Ali Alqassim, Reham Mohammad Ghobin, Yasir Alhijab M Kadi, Atyaf Abdullah Ali Madkhali, Raed Mohammed Ahmed Ahmed, Afnan Hussain Ahmed Abuzawah, Abdulrahman Mohammad Abdulrahman Abutalib, Remaz Ramay Atifa Ramily, Sharifah A Komeit, Sawsan A Rifaei, Husam Mohammed Fadhali","doi":"10.21037/tp-2026-0427","DOIUrl":"10.21037/tp-2026-0427","url":null,"abstract":"<p><strong>Background: </strong>Vaso-occlusive crisis (VOC) is the most common cause of hospitalization and morbidity among children with sickle cell anemia (SCA). Identifying clinical predictors of severe VOC may help improve early risk stratification and management. This study aimed to identify clinical determinants associated with severe VOC among pediatric patients with SCA.</p><p><strong>Methods: </strong>A retrospective observational study was conducted using hospital-based data from pediatric patients with confirmed SCA admitted with VOC in southern Saudi Arabia between August 2025 and December 2025. Severe VOC was defined using a composite outcome including severe pain, prolonged hospitalization, or intensive care unit (ICU) admission. Demographic characteristics, treatment exposures, and admission clinical parameters were analyzed. Independent predictors of severe VOC were identified using multivariable logistic regression analysis.</p><p><strong>Results: </strong>A total of 776 pediatric patients with SCA were included (mean age 9.5±3.6 years; 54.5% male). Severe VOC occurred in 385 patients (49.6%). In multivariable logistic regression analysis (n=596), higher admission temperature [adjusted odds ratio (aOR) 1.69, 95% confidence interval (CI): 1.34-2.15, P<0.001] and increased annual blood transfusion frequency (aOR 1.28, 95% CI: 1.16-1.40, P<0.001) were independently associated with severe VOC. Hydroxyurea therapy demonstrated a protective effect, reducing the risk of severe crisis by approximately 42% (aOR 0.58, 95% CI: 0.43-0.78, P<0.001). The predictive model showed modest but statistically significant discrimination (AUC 0.626, 95% CI: 0.587-0.665, P<0.001).</p><p><strong>Conclusions: </strong>Severe VOC in children with SCA appears to be primarily associated with acute inflammatory triggers, particularly elevated admission temperature, and markers of underlying disease severity such as frequent transfusion requirements. Hydroxyurea therapy demonstrated a significant protective effect, supporting its role in reducing the risk of severe VOC complications.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"322"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931196","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":"Risk stratification regarding an unfavourable course of bacterial meningitis in newborns requires consideration of all influencing factors.","authors":"Josef Finsterer","doi":"10.21037/tp-2026-0626","DOIUrl":"10.21037/tp-2026-0626","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"357"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931215","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":"Development and bootstrap-based internal validation of a dynamic model for predicting acute kidney injury after day-3 reassessment in children with severe community-acquired pneumonia.","authors":"Jing Dong, Jing Yue, Hui Zhao, Ling Jiang","doi":"10.21037/tp-2026-0468","DOIUrl":"10.21037/tp-2026-0468","url":null,"abstract":"<p><strong>Background: </strong>Children with severe community-acquired pneumonia (SCAP) are at risk of acute kidney injury (AKI), but creatinine-based recognition may be delayed, and existing pediatric AKI models are not SCAP-specific or trajectory-based. We developed a model for day-3 reassessment of subsequent AKI risk.</p><p><strong>Methods: </strong>This single-center retrospective prediction model development study included children aged 1 month to 18 years with SCAP, defined by at least 1 major or 2 minor Pediatric Infectious Diseases Society (PIDS)/Infectious Diseases Society of America (IDSA) severity criteria. Eligible patients had baseline and day-3 blood counts, C-reactive protein (CRP), albumin, and serial creatinine measurements. Children with chronic kidney disease or congenital urinary anomalies, hospital-acquired or ventilator-associated pneumonia, transfer after >48 hours of treatment, major immunosuppression or chronic liver disease, missing core variables, or AKI before the day-3 index time were excluded. Incident AKI after day 3 was defined by Kidney Disease: Improving Global Outcomes (KDIGO) serum creatinine criteria. Candidate predictors were prespecified based on clinical relevance, prior evidence, availability, and sample-size constraints, with least absolute shrinkage and selection operator (LASSO) used as an auxiliary stability assessment. Bootstrap-based internal validation used 1,000 resamples.</p><p><strong>Results: </strong>Among 454 children [median age, 22 months; 56.4% male; 21.4% with Pediatric Critical Illness Score (PCIS) ≤70], 94 (20.7%) developed incident AKI. The 9-parameter model included age, PCIS ≤70, mechanical ventilation, vasoactive support, vancomycin-piperacillin/tazobactam exposure, fluid overload >10%, baseline creatinine, ΔPLR, and CAR clearance rate (CARc). The apparent area under the curve (AUC) was 0.872 (95% confidence interval: 0.834-0.910), the optimism-corrected AUC was 0.857, the corrected calibration slope was 0.940, and the corrected Brier score was 0.095. A 10% threshold yielded 90.4% sensitivity, 55.0% specificity, and 95.7% negative predictive value; a 30% threshold yielded 70.2% sensitivity, 80.3% specificity, and 48.2% positive predictive value.</p><p><strong>Conclusions: </strong>Dynamic inflammatory changes improved day-3 AKI risk prediction within the development cohort. The model and proposed thresholds require independent external validation before bedside use.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"318"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931218","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":"Automated oxygen control in extremely preterm infants: lessons from a negative trial.","authors":"Bianca C Benincasa, Rita C Silveira","doi":"10.21037/tp-2026-0639","DOIUrl":"10.21037/tp-2026-0639","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"295"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931238","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":"Development and validation of a multivariate predictive model for the risk of refractory mycoplasma pneumoniae pneumonia in children based on quantitative computed tomography features.","authors":"Lei Wang, Tian Hu, Yu Lei, Tao Ren, Shunlin Guo","doi":"10.21037/tp-2026-0300","DOIUrl":"10.21037/tp-2026-0300","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Refractory mycoplasma pneumoniae pneumonia (RMPP) in children often responds poorly to treatment and is prone to causing serious complications; therefore, early identification is clinically crucial. The aim of this study is to evaluate quantitative imaging features from pediatric chest computed tomography (CT) scans, develop a multivariate predictive model, perform internal validation of the model, and investigate the predictive value of quantitative CT measures for the risk of RMPP in children.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This study retrospectively enrolled hospitalized pediatric patients who underwent their first chest CT scan between January 2019 and December 2021 and were clinically diagnosed with mycoplasma pneumonia, and selected participants according to established criteria. Cohorts were stratified by hospital: 116 cases from hospital A served as the training set, while 81 cases from hospitals B, C, and D served as the external validation set, for a total of 197 pediatric patients, including 60 with RMPP and 137 with conventional Mycoplasma pneumoniae pneumonia (MPP). Missing data were handled using the complete-cases method. Clinical, laboratory, and quantitative CT imaging features were uniformly collected as candidate predictors. Independent predictors were identified using stepwise logistic regression, and a nomogram model was constructed. Model calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test, and the model's discriminatory performance in the training and validation sets was evaluated via receiver operating characteristic (ROC) curve analysis to complete the internal validation of the model.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 60 children with RMPP and 137 children with general mycoplasma pneumoniae pneumonia (GMPP) were included (training set, 116; validation set, 81). Baseline data for all pediatric patients included age, sex, duration of fever, complete blood count, inflammatory markers, and chest CT findings; there were no statistically significant differences in age, sex, or baseline clinical indicators between the training and validation sets (P&gt;0.05). Compared to the general mycoplasma pneumonia group, children with RMPP in the training set exhibited significantly higher levels of C-reactive protein (CRP), lactate dehydrogenase (LDH), and lesion percentage to lung volume (LeV%), alongside a correspondingly lower percentage of ground-glass opacity (GGO%). Multivariate analysis revealed that CRP, LDH, LeV%, and GGO% were independent predictors of RMPP. The developed nomogram had high accuracy, with the area under the curve (AUC) of the ROC values of 0.933 [95% confidence interval (CI), 0.888-0.977] in the training set and 0.922 (95% CI, 0.859-0.985) in the validation set, respectively. The predicted probabilities from the nomogram, as indicated by the calibration curve and Hosmer-Lemeshow test, were in good agreement with the observed probabilities.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"317"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931254","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":"Development and validation of a prediction model for 6-month early death in pediatric H3K27M-mutant diffuse intrinsic pontine glioma (DIPG).","authors":"Long Wang, Xiaohao Liu, Yanan You, Yue Yu, Dandan Wang, Jiayao Xu, Boya Zhang, Juan Wang, Yingjuan Zheng","doi":"10.21037/tp-2026-0265","DOIUrl":"10.21037/tp-2026-0265","url":null,"abstract":"<p><strong>Background: </strong>H3K27M-mutant diffuse intrinsic pontine glioma (H3K27M-DIPG) is among pediatric brain tumors with the poorest prognosis. Early identification of high-risk patients may facilitate timely, individualized clinical management. This study aimed to identify independent predictors of early death (ED), defined as death within 6 months of diagnosis, in pediatric patients with H3K27M-DIPG and to develop and validate a clinical prediction model to estimate individualized ED risk in this population.</p><p><strong>Methods: </strong>We retrospectively collected clinical data from 147 pediatric patients in the Surveillance, Epidemiology, and End Results (SEER), including sex, race, tumor grade, surgical approach, radiotherapy, chemotherapy, tumor size, age, and time from diagnosis to treatment. Death within 6 months of diagnosis was used as the primary outcome. To minimize the risk of omitting critical confounders while preventing overfitting, variables with P<0.15 in the univariable analysis were selected for multivariable logistic regression to construct a streamlined nomogram. The discriminatory ability of the model was evaluated by the area under the curve (AUC). Internal validation was performed using 500 bootstrap resamples to calculate the optimism-corrected C-index and verify model stability.</p><p><strong>Results: </strong>Following the univariable screening, four variables (radiotherapy, chemotherapy, time to treatment, and tumor grade) were incorporated into the multivariable model. Multivariable logistic regression analysis showed that non-receipt of radiotherapy was the sole independent risk factor for ED [odds ratio (OR) =8.00, 95% confidence interval (CI): 2.26-28.30, P=0.001]. The developed nomogram demonstrated excellent discrimination, and the apparent C-index (AUC) was 0.732 (95% CI: 0.607-0.854). After internal validation with 500 bootstrap resamples, the optimism-corrected C-index remained stable at 0.702.</p><p><strong>Conclusions: </strong>This study successfully developed and internally validated a streamlined 4-variable prediction model to estimate the risk of 6-month ED in children with H3K27M-DIPG. Radiotherapy status emerged as the singular most critical factor associated with ED. This model may assist clinicians in early identification of high-risk patients, facilitate transparent clinician-family communication, and support individualized treatment planning and counseling.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"338"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931245","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":"Development and validation of a risk prediction model for respiratory tract <i>Ureaplasma urealyticum</i> infection in preterm infants.","authors":"Jinju Shi, Huiyue Zhang, Yanni Xu, Hongzhu Cai, Shaoru Zheng, Cuimin Su","doi":"10.21037/tp-2026-0504","DOIUrl":"10.21037/tp-2026-0504","url":null,"abstract":"<p><strong>Background: </strong><i>Ureaplasma urealyticum</i> (UU) infection in preterm infants lacks typical clinical manifestations. This study aims to analyze the risk factors for UU infection in preterm infants, construct and validate a nomogram prediction model, and provide evidence for early clinical risk assessment.</p><p><strong>Methods: </strong>A total of 430 preterm infants admitted to the Department of Neonatology of Jinjiang Municipal Hospital from September 2022 to December 2024 were selected as the research subjects. Polymerase chain reaction (PCR)-fluorescent probe method was used to detect UU-DNA in respiratory secretions within 48 hours after admission. According to the test results, the preterm infants were divided into the UU-positive group (n=92) and the UU-negative group (n=338). Multivariable binary logistic regression analysis was performed to identify independent risk factors for UU infection. R software was used to construct a nomogram prediction model for respiratory UU infection in preterm infants, and the receiver operating characteristic (ROC) curve was used to evaluate the efficacy of the model.</p><p><strong>Results: </strong>Multivariable logistic regression analysis showed that maternal vaginal delivery [odds ratio (OR) =0.07, 95% confidence interval (CI): 0.033-0.149], premature rupture of membranes (OR =6.04, 95% CI: 3.023-12.065), chorioamnionitis (OR =3.498, 95% CI: 1.545-7.921), UU infection of the genital tract (OR =13.949, 95% CI: 6.858-28.373), and white blood cell count in preterm infants (OR =1.11, 95% CI: 1.033-1.192) were independent risk factors for UU infection in preterm infants. The above risk factors were introduced into R software to construct a nomogram model. The area under the ROC curve was 0.931 (95% CI: 0.905-0.956), the sensitivity was 90.2%, and the specificity was 82.8%, which had good prediction efficiency.</p><p><strong>Conclusions: </strong>The nomogram model based on the five independent risk factors of vaginal delivery, premature rupture of membranes, chorioamnionitis, UU infection of the genital tract, and white blood cell count of preterm infants has a high predictive ability. For preterm infants with high-risk factors, UU detection should be performed in time to achieve early diagnosis and intervention, reduce the incidence of serious complications, and improve the prognosis of children.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"312"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931284","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":"Histone acetylation-regulated FBXO11-dependent degradation of BLIMP-1 promotes lung injury.","authors":"Bangzhi Sui, Yingying Wang, Jie Liu","doi":"10.21037/tp-2026-0467","DOIUrl":"10.21037/tp-2026-0467","url":null,"abstract":"<p><strong>Background: </strong>Pediatric pneumonia, characterized by symptoms of fever and cough, presents certain challenges to clinical treatment due to a growing pathogen resistance and the difficulty of controlling inflammation in the immature pediatric immune system. Research on pediatric pneumonia has focused on the critical role of macrophage pyroptosis in pulmonary inflammation, with the aim of identifying novel therapeutic targets related to the modulation of inflammasome signaling pathways. The purpose of this study was to identify key genes associated with pediatric pneumonia and drugs that target these genes for the treatment of lung injury caused by the disease. Single-cell analysis revealed elevated F-box only protein 11 (FBXO11) expression in macrophages in patients with pediatric pneumonia.</p><p><strong>Methods: </strong>Firstly, the target genes in patients with pediatric pneumonia were analyzed via polymerase chain reaction (PCR) and single-cell data analysis. C57BL/6 mice were intranasally challenged with colony-forming units (CFU) of <i>Streptococcus pneumoniae</i>. Murine bone marrow-derived macrophages (BMDMs) or RAW264.7 cells were treated with pectolinarigenin and liposaccharide (LPS), and then pulsed with adenosine triphosphate (ATP).</p><p><strong>Results: </strong>FBXO11 expression was upregulated in a pediatric pneumonia mice model, and small interfering RNA targeting F-box only protein 11 (si-FBXO11) alleviated lung injury in a mouse model of pediatric pneumonia. FBXO11 promoted macrophage pyroptosis in an <i>in vitro</i> pediatric pneumonia model. NOD-like receptor protein 3 (NLRP3) inhibitor treatment counteracted the propyroptotic effects of FBXO11 and B lymphocyte-induced maturation protein 1 (BLIMP-1) on macrophage pyroptosis in macrophages. FBXO11 suppressed BLIMP-1 expression and promoted its degradation in lung tissue from the pediatric pneumonia model. FBXO11 interlinked with BLIMP-1 and reduced BLIMP-1 expression and its ubiquitination. FBXO11 suppressed NLRP12 activity through the pyrin domain-containing 12 (NLRP12) promoter of the NOD-like receptor family at a BLIMP-1 binding site. Histone acetylation-regulated METTL3 enhanced FBXO11 messenger RNA (mRNA) stability through N(6)-methyladenosine (m⁶A) modification, thereby modulating pyroptosis. Pectolinarigenin bound to FBXO11 protein in macrophages and reduced macrophage pyroptosis in pediatric pneumonia.</p><p><strong>Conclusions: </strong>FBXO11 promotes macrophage pyroptosis by degrading BLIMP-1 and suppressing the NLRP12 and NLRP3 signaling pathway, thereby exacerbating lung injury in pediatric pneumonia. Targeting this pathway may exert a therapeutic effect. Notably, pectolinarigenin represents a promising candidate for mitigating macrophage pyroptosis in pediatric pneumonia and possibly other pediatric inflammatory diseases.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"311"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148930720","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":"Construction of a prediction model for retinopathy of prematurity based on placenta-derived genes and clinical variables.","authors":"Dan Huang, Rong Gan, Yunpeng Zhang, Zikang Chen, Yang Bai, Weifeng Zhu, Daya Luo, Yulan Yang, Zhuoqi Liu, Yan Deng","doi":"10.21037/tp-2026-0544","DOIUrl":"10.21037/tp-2026-0544","url":null,"abstract":"<p><strong>Background: </strong>Retinopathy of prematurity (ROP) is a leading cause of childhood blindness, with rising incidence as neonatal care improves. Established risk factors include low birth weight, prematurity, and supplemental oxygen, yet current clinical prediction tools have limited early accuracy. The placenta, serving as the maternal-fetal interface, may harbor transcriptomic signatures reflecting intrauterine inflammation and hypoxia that influence ROP development; however, the specific placental genes involved and their predictive value remain largely unknown. This study aimed to identify placenta-derived differentially expressed genes (DEGs) associated with ROP and construct a predictive risk model integrating gene expression and clinical variables for early ROP diagnosis and prevention.</p><p><strong>Methods: </strong>DEGs were screened from the GSE218039 placental RNA sequencing (RNA-seq) dataset (ROP <i>vs.</i> control). Functional enrichment, protein-protein interaction (PPI) network, and immune infiltration analyses were performed. Overlapping DEGs with the oxygen-induced retinopathy (OIR) mouse model (GSE200195, GSE158799) were identified. Fourteen upregulated genes were validated by quantitative real-time polymerase chain reaction (qRT-PCR) in OIR retinal tissues. Elastic-net penalized regression and multivariate logistic regression were applied to the GSE32472 dataset (postnatal days 5 and 28) to select predictive genes and clinical variables (birth weight, bronchopulmonary dysplasia) for constructing a nomogram.</p><p><strong>Results: </strong>A total of 1,071 DEGs (758 upregulated, 313 downregulated) were identified, enriched in cytokine-cytokine receptor interaction and chemokine signaling pathways. Seven genes (<i>B2M, C3, ITGAX, CAPG, MCAM, MMP25, LGALS3</i>) were significantly upregulated in OIR retinas (P<0.05). Neutrophil infiltration was increased in ROP and positively correlated with these genes. Four overlapping genes (<i>MMP25, CAPG, MCAM, B2M</i>) were selected from both time points and combined with birth weight and bronchopulmonary dysplasia to build a nomogram. The model achieved an area under the curve (AUC) of 0.948 [95% confidence interval (CI): 0.899-0.998] on postnatal day 5, with good calibration.</p><p><strong>Conclusions: </strong>The nomogram incorporating four placenta-derived genes and clinical variables shows excellent predictive performance for early ROP detection, offering a potential tool for individualized risk assessment, early intervention, and prevention of ROP in premature infants.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"341"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931234","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 and modifier gene profiles in reversible infantile respiratory chain deficiency: three Chinese cases report and literature review.","authors":"Tongyue Li, Chaolong Xu, Zhimei Liu, Yang Liu, Ying Zou, Zimeng He, Yunxi Zhang, Mingxi Sun, Hong Xue, Hua Li, Fang Fang","doi":"10.21037/tp-2026-0512","DOIUrl":"10.21037/tp-2026-0512","url":null,"abstract":"<p><strong>Background: </strong>Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy caused by homoplasmic MT‑TE m.14674T>C/G variants, characterized by severe infantile onset followed by spontaneous recovery. Nuclear modifiers are thought to modulate its incomplete penetrance, but evidence for digenic inheritance remains limited. We aim to analyze the clinical, genetic, and prognostic features of RIRCD, explore the roles of nuclear modifiers and digenic inheritance.</p><p><strong>Case description: </strong>We report three Chinese RIRCD patients carrying the homoplasmic m.14674T>C variant. All presented with recurrent respiratory infections and feeding difficulties, with gradual developmental recovery after 1 year of age. Notably, we report a case of a homoplasmic m.14674T>C variant (maternal) and a pathogenic <i>EARS2</i> heterozygous variant (paternal), indicating digenic inheritance of <i>EARS2</i>. Additionally, we report another case of a homoplasmic m.14674T>C variant and a maternally inherited <i>CLCN4</i> variant associated with language delay and autistic features after recovery from RIRCD, suggesting the presence of additional modifiers or comorbidities. Among 52 published cases and our 3 new cases, 92.16% of cases had onset within 3 months, 85.55% had neuromuscular symptoms, 70.91% required nasogastric feeding, and 43.63% needed mechanical ventilation. Elevated lactate and creatine kinase levels, ragged-red fibers, and mitochondrial ultrastructural abnormalities in muscle biopsies were common pre-recovery. Respiratory chain deficiencies included isolated complex IV and combined I + IV defects. Prognosis was favorable (32.00% full recovery, 58.00% mild residual myopathy). Twenty-four cases (43.64%) had nuclear modifiers, including <i>EARS2</i> (n=9) and <i>TRMU</i> (n=6).</p><p><strong>Conclusions: </strong>RIRCD is a rare mitochondrial myopathy caused by mitochondrial DNA (mtDNA) variants with penetrance regulated by nuclear modifiers. Digenic inheritance contributes to phenotypic heterogeneity, supporting precise diagnosis and future therapy.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 8","pages":"355"},"PeriodicalIF":2.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13559098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931252","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}