Translational pediatrics最新文献

{"title":"Functional cure in a child with chronic hepatitis B with rtM204I mutation through an atypical serological response: a case report.","authors":"Yuanyuan Liu, Zhiyan Pei, Aidi Ma, Yongfang Li, Fengmin Lu, Lingyi Zhang","doi":"10.21037/tp-2025-250","DOIUrl":"10.21037/tp-2025-250","url":null,"abstract":"<p><strong>Background: </strong>rtM204I mutation is commonly associated with resistance to nucleos(t)ide analog (NA) therapy for hepatitis B virus (HBV), often resulting in virological breakthrough and treatment failure. Owing to unique immunological and virological characteristics of HBV, achieving a functional cure in pediatric patients is easier than in adults, and cases involving concurrent drug-resistant mutations are rare.</p><p><strong>Case description: </strong>A 4-year-old boy infected with HBV through mother-to-child transmission experienced virological rebound (HBV DNA, 4.66×107 IU/mL) after 12 months of lamivudine (LAM) monotherapy. Resistance testing revealed rtM204I mutation. The treatment regimen was adjusted to tenofovir disoproxil fumarate (TDF) combined with pegylated interferon α-2a (PegIFNα-2a). At 12 weeks of treatment, there was a significant decline in hepatitis B surface antigen (HBsAg) levels accompanied by positive antibody to hepatitis B surface antigen (anti-HBs), thus presenting an atypical serological pattern of double positivity for HBsAg and anti-HBs. By week 24, HBsAg was negative, but hepatitis B e antigen (HBeAg) remained positive, demonstrating an atypical serological pattern of response dissociation whereby HBsAg disappeared before HBeAg. TDF combined with PegIFNα-2a was administered until week 36, resulting in persistent HBsAg negativity and a significant increase in anti-HBs levels. PegIFNα-2a was discontinued, and TDF monotherapy was continued for 10 months. During this period, HBsAg negativity and anti-HBs positivity were maintained, HBeAg became negative, and alanine aminotransferase levels remained normal. These results indicate achievement of a functional cure.</p><p><strong>Conclusions: </strong>This case indicated that in children with rtM204I mutation, optimizing antiviral therapy combined with PegIFNα-2a can achieve a functional cure despite atypical serological response patterns. Long-acting interferons have significant therapeutic value in pediatric patients with drug-resistant mutations.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1726-1732"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837889","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":"<i>LIN28B</i> hypomethylation drives oncogenic signaling and stratifies poor prognosis in juvenile myelomonocytic leukemia.","authors":"Junchen Lai, Yan Miao, Xia Qin, Yuchen Lin, Chengjuan Luo, Changying Luo, Xinan Wang, Chen Zhou, Jing Chen","doi":"10.21037/tp-2025-228","DOIUrl":"10.21037/tp-2025-228","url":null,"abstract":"<p><strong>Background: </strong><i>LIN28B</i>, an oncofetal RNA-binding protein regulating stem cell self-renewal and oncogenic signaling via let-7 miRNA suppression, is implicated in diverse malignancies but remains poorly characterized in juvenile myelomonocytic leukemia (JMML). Despite its reported overexpression in approximately 50% of JMML cases, the epigenetic mechanisms driving <i>LIN28B</i> dysregulation and its clinical relevance for risk stratification are undefined. Therefore, this study aimed to elucidate the epigenetic regulation of <i>LIN28B</i> in JMML, and determine its potential as a biomarker for risk stratification.</p><p><strong>Methods: </strong>We analyzed <i>LIN28B</i> expression and methylation in 24 JMML patients and validated the methylation classification in an independent validation cohort (n=62). Gene Set Enrichment Analysis (GSEA) of Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) was conducted to find out the potential mechanisms underlying the differentially expressed <i>LIN28B</i>.</p><p><strong>Results: </strong>Among 24 JMML patients, more than 58% showed overexpression of LIN28B, with the majority exhibiting hypomethylation in a newly identified upstream promoter region. Patients with <i>LIN28B</i>-positive showed concurrent upregulation of <i>WT1,</i> <i>POU1F1</i> and <i>GATA5</i>, downregulation of <i>HEY1</i> and enriched for cell cycle pathways. Hierarchical clustering identified a high-methylation (HM) subgroup enriched for adverse features: age >2 years, <i>PTPN11</i> mutations, and hypermethylation phenotypes. In an independent cohort, the HM patients demonstrated inferior 5-year overall survival (OS, 49.2% <i>vs.</i> 87.0%) and event-free survival (EFS, 40.1% <i>vs.</i> 87.0%) versus low-methylation counterparts.</p><p><strong>Conclusions: </strong><i>LIN28B</i> activation via promoter hypomethylation defines a high-risk JMML subgroup with cell cycle. Methylation-based stratification predicts survival, positioning <i>LIN28B</i> as a therapeutic target.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1541-1552"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837909","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":"Two novel frameshift variations in the <i>ELF4</i> gene expand the mutational spectrum of DEX: case report and literature review.","authors":"Mingfang Sun, Jindan Yu, Yang Liu, Haihua Lin, Lingli Chen, Youyou Luo","doi":"10.21037/tp-2025-167","DOIUrl":"10.21037/tp-2025-167","url":null,"abstract":"<p><strong>Background: </strong>Variants in the <i>ELF4</i> gene have recently been reported to cause a primary immune dysregulation disease called deficiency in <i>ELF4</i>, X-linked (DEX). Its clinical spectrum includes fever of unknown origin, recurrent oral ulcers, inflammatory bowel disease (IBD)-like symptoms, anemia, arthritis, and systemic lupus erythematosus. Although the condition is increasingly recognized, it remains rare in pediatric populations.</p><p><strong>Case description: </strong>We report our experience of two patients with DEX. The first patient, a 7-year-and-4-month-old boy, initially developed recurrent oral ulcers at 6 years of age. He later experienced fever and perianal ulcers, with laboratory tests showing elevated inflammatory marker levels. Colonoscopy revealed multiple ulcers in the colon and terminal ileum. Despite exclusive enteral nutrition, there was no clinical improvement. Next-generation sequencing revealed the novel hemizygous variant c.835_836insTATACTACCAGTATACCAAAGAGGCATACTGG (p.Ala279ValfsTer103) in the <i>ELF4</i> gene. Following induction therapy and maintenance treatment with the anti-tumor necrosis factor-α (TNF-α) agent adalimumab, intestinal ulcers nearly healed. The second patient, a 12-year-6-month-old boy, presented with a 1-year history of recurrent oral ulcers, reduced appetite, intermittent abdominal pain, and notable weight loss. Laboratory findings revealed elevated inflammatory markers. Endoscopic examination revealed a large ulcer in the ileocecal region that extended into the ascending colon. Treatment with corticosteroids and partial enteral nutrition led to symptomatic improvement. Next-generation sequencing revealed a frameshift variant in <i>ELF4</i> [exon 3: c.87delC (p.S30Lfs*6), XLR]. To contextualize these findings, we also reviewed previously reported genotypes and phenotypes of patients treated for DEX.</p><p><strong>Conclusions: </strong>Patients with DEX may present as nonspecific ulcers in the gastrointestinal tract and can be misinterpreted as IBD or Behçet's disease. Genetic testing plays a crucial role in achieving an accurate diagnosis in pediatric patients. The present study also expands the spectrum of <i>ELF4</i> mutation-induced immune dysregulation.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1675-1683"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837829","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 child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the <i>CRPPA</i> gene: a case report and literature review.","authors":"Shuqian Zhang, Meiyan Wu, Xin Li, Shandan Wang, Ruirui Zhai, Lingyun Li, Zhaoxia Li, Qinghui Guo","doi":"10.21037/tp-2025-6","DOIUrl":"10.21037/tp-2025-6","url":null,"abstract":"<p><strong>Background: </strong>Dystroglycanopathy is a genetically heterogeneous group of rare muscular dystrophies that affect the brain, muscles, and eyes, primarily resulting from impaired glycosylation of α-dystroglycan. In this study, we identify and characterize a novel heterozygous <i>CRPPA</i> gene variant causally associated with α-dystroglycanopathy.</p><p><strong>Case description: </strong>We present a case of a 1-year and 5-month-old female with elevated creatine kinase (CK) levels and seizures, along with global developmental delay, microphthalmia, hypotonia, and myasthenia. Notably absent was ocular involvement. The serum CK levels typically fluctuated between 2,356 and 9,555 U/L. Video-electroencephalogram monitoring demonstrated abnormal discharge in the left anterior frontal region. Brain magnetic resonance imaging revealed numerous subcortical cysts in the bilateral cerebellar hemispheres and corpus callosum dysplasia. We performed whole-exome sequencing to identify compound heterozygous mutations in the <i>CRPPA</i> gene [Online Mendelian Inheritance in Man (OMIM): 614643]. The identified mutations include the pathogenic variant c.1251G>A (p. Gln 417=) inherited from father, and the c.1119+2T>G variant inherited from mother. We confirm that c.1119+2T>G was a novel splice-site variant. Based on the clinical manifestations, ancillary tests, and genetic results, the patient was diagnosed with congenital muscular dystrophy with mental retardation (CMD-MR). Levetiracetam effectively controlled the seizures. However, the patient's motor and cognitive impairments remained unaddressed by pharmacological interventions and persisted backward.</p><p><strong>Conclusions: </strong>We present a case of α-dystroglycanopathy caused by a novel splice site variant, c.1119+2T>G, in the <i>CRPPA</i> gene. The patient presented with clinical features characteristic of CMD-MR, thus extending the phenotypic spectrum of α-dystroglycanopathy.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1691-1699"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837849","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":"<i>PPP1R12A</i> mutation leads to different genders of twinning: a case report and literature review.","authors":"Hongjuan Tian, Dehua Wu, Hao Yang, Dingwen Wu, Chang Tao, Jia Wei, Jinna Yuan, Junfen Fu, Daxing Tang, Xiang Yan","doi":"10.21037/tp-2025-166","DOIUrl":"10.21037/tp-2025-166","url":null,"abstract":"<p><strong>Background: </strong>Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A (<i>PPP1R12A</i>) can lead to urogenital and/or brain malformation syndrome (UBMS). When UBMS individuals exhibit genital abnormalities, it is combined with disorders of sex development (DSD). To report a <i>PPP1R12A</i> <i>de novo</i> variation in a case of 46,XY twins exhibiting different phenotypes of genital development.</p><p><strong>Case description: </strong>Twin A exhibited more feminine external genitalia (Prader III), while Twin B showed severe hypospadias (Prader IV) along with left cryptorchidism and right hernia. Endocrine evaluation and ultrasonography revealed that Twin A had bilateral gonadal dysgenesis, confirmed by gonadal pathology, while Twin B had well-functioning testes. Both twins were identical with a 46,XY karyotype. Genetic sequencing identified a novel heterozygous <i>de novo</i> mutation (c.1551-2A>G) in the <i>PPP1R12A</i> gene. Following a discussion with the multidisciplinary team (MDT) and the parents, Twin A was assigned female and underwent feminization surgery, while Twin B continued to be raised as male and received hypospadias repair. The Pre-School Activities Inventory scale was applied to assess their psychosexual development at 3.5 years old: Twin A scored 55.95 (neutral, slightly inclined to male), while Twin B scored 84.55 (male).</p><p><strong>Conclusions: </strong>This is the first instance of identical twins with a heterozygous mutation (c.1551-2A>G) in the <i>PPP1R12A</i> gene, associated with UBMS and DSD. The same variation resulted in identical twins exhibiting different genital phenotypes and choosing to live as different genders.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1708-1716"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837910","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 machine learning model for predicting co-infection of <i>Mycoplasma pneumonia</i> in pediatric patients.","authors":"Xiaohan Liu, Wenbei Xu, Lingjian Meng, Juan Long, Xiaonan Sun, Qiang Li, Haiquan Kang, Yiping Mao, Chunfeng Hu, Kai Xu, Yankai Meng","doi":"10.21037/tp-2024-562","DOIUrl":"10.21037/tp-2024-562","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;&lt;i&gt;Mycoplasma pneumoniae&lt;/i&gt; pneumonia (MPP) is endemic in China, while &lt;i&gt;Mycoplasma&lt;/i&gt; co-infection with other pathogens (Co-MPP) linked to severe outcomes. Despite radiomics and machine learning potential in pneumonia, pediatric Co-MPP differentiation remains underexplored. This study aimed to bridge this gap by evaluating machine learning models, particularly radiomics features derived from high-resolution computed tomography (HRCT) scans, to differentiate between MPP and Co-MPP, and to compare their predictive performance with traditional clinical models.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We conducted a retrospective analysis of hospitalized pediatric pneumonia patients from June to December 2023 at Affiliated Hospital of Xuzhou Medical University. Chest computed tomography (CT) scans were performed using a multi-slice CT scanner with over 64 detectors. Fluorescent quantitative polymerase chain reaction (PCR) was used to detect 14 pathogens in bronchoalveolar lavage (BAL) fluid. The most recent laboratory results prior to BAL were included in multifactorial logistic regression (LR) analysis, selecting variables with P&lt;0.05 for constructing the clinical model. The largest cross-section of the lesion was selected, and image segmentation was performed using ITK-SNAP software. Radiomics features were extracted with Pyradomics. Features were filtered using t-tests, Mann-Whitney &lt;i&gt;U&lt;/i&gt; tests, and Spearman rank correlation coefficients. The least absolute shrinkage and selection operator (LASSO) regression and ten-fold cross-validation were used for feature selection and to construct the radiomics model, optimizing the dimensionality of the dataset. Eight different machine learning models [LR, support vector machine (SVM), K-nearest neighbor (KNN), RandomForest, ExtraTrees, eXtreme gradient boosting (XGBoost), light gradient boosting machine (LightGBM), and multi-layer perceptron (MLP)] were trained with the selected features, with five-fold cross-validation yielding the final radiomics model. The clinical and radiomics models were combined to create a nomogram model. Data analysis was performed using R software and SPSS 26.0.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 124 cases of MPP and children with Co-MPP were included. The extracted radiomics features consisted of first-order signal intensity features (n=360), morphological features (n=14), and texture features (n=1,460). LASSO regression and ten-fold cross-validation identified 23 non-zero correlation coefficient features for constructing Radscore. The LR model demonstrated superior predictive performance for Co-MPP in the validation cohort, with an area under the curve (AUC) of 0.951, sensitivity of 0.778, and specificity of 0.875. The nomogram model combining clinical and radiomics labels significantly outperformed the clinical model (P=0.004). Calibration curve analysis indicated that the nomogram model exhibited the best agreement with actual values. Both","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1201-1212"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675723","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":"Gut microbiota-derived 4-hydroxyphenylacetic acid (4-HPAA) inhibits weight gain and is negatively associated with childhood obesity.","authors":"Qianru Li, Jiahui Zhang, Minhao Fan, Ningxi Wu, Tianyu Li, Mingxin Wang, Le Zhang","doi":"10.21037/tp-2025-158","DOIUrl":"10.21037/tp-2025-158","url":null,"abstract":"<p><strong>Background: </strong>Childhood obesity has rapidly increased, becoming a significant global public health concern. Obese children exhibit distinct gut microbiome compositions compared to their normal-weight peers, leading to differences in the metabolic products derived from gut microbiota between the two groups. However, the causal relationship between these microbial-derived metabolites and childhood obesity remains unclear. Therefore, we investigate association between the microbial-derived metabolites and childhood obesity.</p><p><strong>Methods: </strong>In this study, we conducted an analysis of multiple childhood obesity gut microbiota databases. We utilized curated children's microbiota data at the genus level from the GMrepo database. To investigate metabolic pathways, we used the MetOrigin database to analyze the gut microbiota metabolites.</p><p><strong>Results: </strong>We found that the abundances of <i>Prevotella</i>, <i>Sutterellaceae</i>, <i>Lachnospiraceae</i>, <i>Veillonellaceae</i>, <i>Streptococcaceae</i>, <i>Fusobacteriaceae</i>, and <i>Klebsiella</i> were increased in the gut microbiome of obese children, while <i>Akkermansia</i>, <i>Faecalibacterium</i>, <i>Porphyromonadaceae</i>, <i>Rikenellaceae</i>, <i>Eubacteriaceae</i>, <i>Odoribacter</i>, and <i>Erysipelotrichaceae</i> were decreased compared to their normal-weight counterparts. Furthermore, the gut microbial metabolites acetic acid, propionic acid, and butyric acid were elevated in the feces of obese children, while 4-hydroxyphenylacetic acid (4-HPAA), valeric acid, and lactic acid were decreased in the feces or urine of obese children. Trace analysis and literature review revealed that <i>Eubacteriaceae</i> produces 4-HPAA via the tyrosine metabolism pathway, while <i>Bacteroides</i> generates lactic acid through glycolysis, gluconeogenesis, and pyruvate metabolism pathways. Notably, 4-HPAA treatment reduced weight gain and improved glucose intolerance in mice on a high-fat diet.</p><p><strong>Conclusions: </strong>Our study analyzed the gut microbiota characteristics of obese children across multiple regions and suggests that the downregulation of 4-HPAA may be associated with the development of obese children.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1156-1167"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675838","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":"Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.","authors":"Zhixin Wang, Youhong Fang, Jindan Yu, Jie Chen, Youyou Luo","doi":"10.21037/tp-2024-567","DOIUrl":"10.21037/tp-2024-567","url":null,"abstract":"<p><strong>Background: </strong>Most cases of childhood inflammatory bowel disease (IBD) are polygenic in origin, although a subset of patients exhibits monogenic etiologies. Some studies have identified the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene as a susceptibility gene, but the majority of research has focused on genetic mutations without extensive clinical data. Furthermore, there is a paucity of long-term data on pediatric patients receiving biologic therapy.</p><p><strong>Case description: </strong>An 11-year-old female patient presented to the Gastroenterology Department with a 1-month history of chronic abdominal pain, diarrhea, and weight loss. Laboratory investigations revealed marked inflammation, anemia, hypoproteinemia, and elevated counts of naive B-cell. Endoscopic examination identified ulcers and polyp proliferation, which was consistent with an initial diagnosis of Crohn's disease. However, despite several months of standardized treatment, there was no significant clinical improvement. Subsequent genetic testing identified LRBA deficiency with a novel mutation. Following the adjustment of her biologic treatment regimen, the patient eventually achieved clinical remission. We also conducted a literature review on LRBA deficiency and IBD. The effective therapies mentioned were hematopoietic stem cell transplantation (HSCT) and abatacept.</p><p><strong>Conclusions: </strong>We described a Chinese IBD and LRBA-deficient patient carrying a novel mutation. In this context, the patient achieved remission under regular biologic therapy, which may offer valuable insights for the treatment of similar cases.</p><p><strong>Keywords: </strong>Lipopolysaccharide-responsive beige-like anchor protein deficiency (LRBA deficiency); inflammatory bowel disease (IBD); Crohn's disease (CD); biologic therapy; case report.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1344-1352"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675841","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":"Tracking of physical activity and sport from childhood and adolescence to adulthood: a systematic review and meta-analysis.","authors":"Antonio García-Hermoso, José Francisco López-Gil, Yasmin Ezzatvar","doi":"10.21037/tp-2025-89","DOIUrl":"10.21037/tp-2025-89","url":null,"abstract":"<p><strong>Background: </strong>The transition from children and adolescents to adulthood involves significant lifestyle changes, making it important to understand how physical activity and sports participation remain stable over time to promote lifelong health. This study analyzed the tracking of physical activity from early years to adulthood through both physical activity and sports participation.</p><p><strong>Methods: </strong>Two researchers searched for relevant articles in MEDLINE, Embase, and Web of Science electronic databases from inception to July 2024. Studies involving individuals aged 6 to 18 years, examining the tracking of physical activity from childhood to adulthood through both physical activity and sports participation, were included. Correlation coefficients (r) and their corresponding standard errors or sample sizes were used to calculate pooled values with a 95% confidence interval (CI) using a random-effects inverse-variance model.</p><p><strong>Results: </strong>The meta-analysis included 38 studies, involving 63,158 participants (mean follow-up: 20.9 years). Results showed low tracking of physical activity from childhood/adolescence to adulthood (r=0.14; 95% CI: 0.11 to 0.16), consistent across sexes and age groups, but higher tracking in young adulthood compared to adulthood (P<0.001). Sports participation showed low tracking (r=0.26; 95% CI: 0.20 to 0.31) with similar patterns across sexes and age groups, but higher tracking in young adulthood compared to adulthood (P=0.03). Follow-up duration moderates these associations, indicating a small but consistent decline in correlation coefficients over time.</p><p><strong>Conclusions: </strong>This study highlights the need for public health initiatives to prioritize promoting physical activity and sports participation among children and adolescents to support long-term health benefits.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1117-1128"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675853","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":"Pediatric pulmonary mucoepidermoid carcinoma in a 5-year-old patient.","authors":"Qixun Lai, Chao Yang, Yidong Wang, Guilin Peng, Mengyang Liu, Xin Xu, Yuan Zeng","doi":"10.21037/tp-2024-490","DOIUrl":"10.21037/tp-2024-490","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1380-1382"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675844","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}