Clinical and Experimental Pediatrics最新文献

{"title":"Antenatal strategies for prevention of neonatal hypoxic-ischemic encephalopathy: potential role of metformin.","authors":"Won-Ho Hahn","doi":"10.3345/cep.2026.02306","DOIUrl":"10.3345/cep.2026.02306","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"785-787"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Authors' reply to a commentary on \"Testosterone therapy in boys with constitutional delay of growth and puberty: a PubMed-based systematic review and exploratory meta-analysis\".","authors":"Ashraf T Soliman, Fawzia Alyafei, Nada Alaaraj, Noor Hamed, Shayma Ahmed, Khaled A Siddiq, Mohammed Qusad, Mohamed AlKhalaf","doi":"10.3345/cep.2026.02285","DOIUrl":"10.3345/cep.2026.02285","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"823-824"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current review of pediatric Fas-associated death domain protein deficiency: expanding clinical and therapeutic perspectives.","authors":"Chuin-Hen Liew, Kah Kee Tan, Jelitha Ramachanderam, Sin Yee Teo, Khuen Foong Ng","doi":"10.3345/cep.2026.01291","DOIUrl":"10.3345/cep.2026.01291","url":null,"abstract":"<p><p>Fas-associated death domain protein (FADD) deficiency is a rare inborn error of immunity characterized by dysregulated T-cell proliferation. The clinical spectrum and management of FADD deficiency in children remain incompletely described. This review aimed to synthesize patient-level observational evidence on clinical manifestations, immunological and genetic findings, and treatment outcomes of pediatric patients with FADD deficiency. A literature search was conducted of PubMed, the Cochrane Library, and Scopus from database inception to July 2, 2026, and reference lists of eligible articles were reviewed. Inclusion criterion was articles on human clinical studies of patients with FADD gene mutation. Eligibility screening and data extraction were performed independently. Ten articles describing 18 patients were included. The reported ancestries included South Asian (n=9), European (n=6), and East/Central Asian (n=1). Parental consanguinity was reported in 10 of 12 patients (83.3%). Median age at onset was 0.8 years. Major presentations were fever-related encephalopathy, lymphoproliferation, and invasive pneumococcal disease. Common features included liver dysfunction, seizures, and functional hyposplenism. Regarding immunophenotyping, double-negative T cells were elevated in 9 of 10 patients (90%). Elevated soluble FAS ligand and interleukin-10 levels and defective lymphocyte apoptosis were observed in all tested patients; most patients had elevated vitamin B12 levels. The most common pathogenic variant was c.350G>A, followed by c.315T>G. Six patients died (33%) at a median age of 0.8 years. Mortality was high among patients with invasive pneumococcal disease; no deaths were reported among those with a lymphoproliferative phenotype or among the 2 hematopoietic stem cell transplantation recipients. FADD deficiency ranges from early-onset fever-related encephalopathy and fulminant sepsis to lymphoproliferative phenotypes. This review emphasizes the importance of recognizing FADD deficiency in children presenting with recurrent febrile encephalopathy, liver dysfunction, and a history of consanguinity and highlights prompt genetic evaluation and hematopoietic stem cell transplantation as potential curative therapies.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"762-772"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal metformin protects developing auditory brainstem function after neonatal hypoxia-ischemia in a neonatal rat model.","authors":"Sei Eun Kim, Joo Young Kweon, Yong Joo Ahn, Jun Hee Kim","doi":"10.3345/cep.2026.01368","DOIUrl":"10.3345/cep.2026.01368","url":null,"abstract":"<p><strong>Background: </strong>Neonatal hypoxia-ischemia (HI) disrupts brain development and can impair sensory circuit maturation. However, how HI vulnerability is modified within developing auditory pathways remains poorly defined.</p><p><strong>Purpose: </strong>Metformin is used during pregnancy in select cases and modulates cellular energy signaling. Here, we tested whether maternal metformin administration during gestation alters functional and cellular outcomes in offspring brain after neonatal HI.</p><p><strong>Methods: </strong>Pregnant rat dams received metformin in drinking water, and offspring rat pups underwent HI during early postnatal life. Auditory pathway function was assessed in vivo using auditory brainstem responses (ABRs), and cellular pathology within the medial nucleus of the trapezoid body (MNTB) was evaluated by immunohistochemistry across postinjury developmental time points.</p><p><strong>Results: </strong>HI significantly elevated click-evoked ABR thresholds and reduced wave II and III amplitudes, whereas maternal metformin exposure prevented the HI-induced click-threshold elevation and preserved wave II and III amplitudes without altering peripheral or central conduction times. Histologically, HI produced an age-dependent decline in MAP2-positive neuronal density in the MNTB, culminating in marked neuronal loss at later postnatal stages. Notably, maternal metformin partially rescued HI-associated reductions in MNTB neurons, with a parallel trend toward preservation of oligodendrocyte lineage cells.</p><p><strong>Conclusion: </strong>Together, these findings indicate that maternal metformin administration during pregnancy enhances metabolic signaling and mitigates HI-related auditory brainstem dysfunction and cellular pathology in offspring, supporting maternal metabolic modulation as a determinant of neonatal sensory brain injury outcomes.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"806-816"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149017927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of bacterial infection on native liver survival in children with cirrhosis due to biliary atresia.","authors":"Varissara Kaewchaivijit, Pornthep Tanpowpong, Songpon Getsuwan, Sophida Boonsathorn, Chatmanee Lertudomphonwanit, Suporn Treepongkaruna","doi":"10.3345/cep.2026.00388","DOIUrl":"10.3345/cep.2026.00388","url":null,"abstract":"<p><strong>Background: </strong>Biliary atresia (BA) is a common cause of cirrhosis in children, and serious bacterial infections may worsen clinical outcomes.</p><p><strong>Purpose: </strong>To study the characteristics, associated factors, and outcomes of infections in children with cirrhosis secondary to BA.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted in children aged <18 years with cirrhosis due to BA between 2014 and 2023. Patients were categorized as having proven/suspected bacterial infection, presumed viral infection, or no documented infection. The clinical characteristics, associated risk factors, predictive models, and native liver survival outcomes, including liver transplantation (LT) and death, were analyzed.</p><p><strong>Results: </strong>Among 150 children, 94 (62.7%) had 222 infection episodes and 249 had infection-related diagnosis. Of the 222 episodes, 143 (64.4%) were classified as proven/suspected bacterial infections; cholangitis was the most common bacterial diagnosis (39.7%). Univariate analysis showed that proven/suspected bacterial infection was associated with higher pediatric end-stage liver disease scores at the first visit and during fever episodes and with higher total and direct bilirubin levels during fever episodes. C-reactive protein (CRP) cutoff of 31 mg/L yielded 75.4% sensitivity, 68.2% specificity, and an area under the receiver operating characteristic curve of 0.80 (95% confidence interval [CI], 0.69-0.90) for distinguishing proven/suspected bacterial from presumed viral infections. Overall, 54% of patients underwent LT, 24% survived with their native liver, 8% died, and 14% were lost to follow-up. After adjustment for disease severity and infection history before referral, proven/suspected bacterial infection was associated with lower native liver survival (adjusted hazard ratio, 1.88; 95% CI, 1.51-2.33).</p><p><strong>Conclusion: </strong>Infections are common in children with cirrhosis due to BA. Serum CRP may help distinguish proven/suspected bacterial from other infections. Bacterial infections were associated with lower native liver survival; therefore, appropriate management and prevention may improve native liver survival.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"788-796"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148621612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electronic media exposure and neurodevelopment in children under 5 years of age: an updated evidence-based narrative review.","authors":"Soumi Kundu, Sudip Bhattacharya, Rajan Kumar, Kusum Kumari, Chandrima Biswas, Asha Premlata Omega Oraon, Abhimanyu Ganguly","doi":"10.3345/cep.2026.01417","DOIUrl":"10.3345/cep.2026.01417","url":null,"abstract":"<p><p>The rapid integration of electronic media into daily life has transformed early childhood experiences worldwide. While digital technology offers opportunities for learning, communication, and entertainment, concerns persist regarding its impact on neurodevelopment during the critical early years of life. This narrative review synthesizes current evidence on the association between electronic media exposure and neurodevelopmental outcomes in children under 5 years of age. The literature search of PubMed, Embase, Scopus, Web of Science, and the Cochrane Library identified 21 original studies, 12 review articles (systematic reviews/meta-analyses, scoping reviews, and narrative reviews), and 4 international guidelines/recommendations, which were included in the narrative synthesis. Evidence related to cognitive, language, motor, behavioral, socioemotional development, sleep, and neuroimaging findings was critically reviewed. Overall, excessive and early screen exposure was associated with language delays, impaired attention and executive functioning, socioemotional difficulties, sleep disturbances, and reduced motor activity. Sleep disruption, including shorter sleep duration and delayed sleep onset, may represent an important pathway linking excessive media use with adverse neurodevelopmental outcomes. Neuroimaging studies also suggest reduced white matter integrity in language-related brain pathways, providing biological plausibility for these associations.Developmental outcomes were influenced by parental mediation, content quality, socioeconomic factors, and increased screen exposure during the coronavirus disease 2019 pandemic. Current guidelines from the American Academy of Pediatrics, World Health Organization, and Indian Academy of Pediatrics recommend limiting screen exposure and promoting caregiver-supervised, developmentally appropriate media use. Excessive and unsupervised electronic media use may adversely affect multiple domains of neurodevelopment, particularly when it replaces interactive play, caregiver engagement, and healthy sleep. Further longitudinal studies incorporating objective measures of media exposure, sleep assessment, and neuroimaging are needed to strengthen current evidence and guide pediatric recommendations.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"773-784"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A commentary on \"Testosterone therapy in boys with constitutional delay of growth and puberty: a PubMed-based systematic review and exploratory meta-analysis\".","authors":"Muqaddas Boltaboeva, Abdulhamid Haydarov, Lola Rakhmanova","doi":"10.3345/cep.2026.02159","DOIUrl":"10.3345/cep.2026.02159","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"820-822"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149017882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut microbiota profiles in Korean children with growth hormone deficiency: a case-control study.","authors":"So Yoon Choi, Seom Gim Kong, Gyu Min Yeon, Yoo Rha Hong, Minyoung Jung, Jung Hyun Lee","doi":"10.3345/cep.2026.00493","DOIUrl":"10.3345/cep.2026.00493","url":null,"abstract":"<p><strong>Background: </strong>The gut microbiota plays an important role in childhood growth and metabolic regulation and may interact with the growth hormone (GH)-insulin-like growth factor-1 axis. However, the gut microbiota characteristics in children with GH deficiency (GHD) are poorly understood.</p><p><strong>Purpose: </strong>This study aimed to compare the gut microbiota composition and predict the functional profiles of Korean children with GHD and those growing normally.</p><p><strong>Methods: </strong>In this pilot case-control study, fecal samples were collected from children with biochemically confirmed GHD and age- and sex-matched healthy controls. Gut microbiota composition was analyzed using 16S rRNA gene sequencing. Microbial alpha and beta diversities, taxonomic compositions, and differentially abundant taxa were evaluated. Functional profiles of the gut microbiome were predicted using Phylogenetic Investigation of Communities by Reconstruction of Unobserved States based on the Kyoto Encyclopedia of Genes and Genomes database.</p><p><strong>Results: </strong>A total of 34 children (11 with GHD, 23 healthy controls) were included in the study. Alpha diversity indices did not differ significantly between groups, whereas beta diversity indices demonstrated a significant intergroup difference (permutational multivariate analysis of variance, P=0.003). At the phylum level, the GHD group showed a higher relative abundance of Proteobacteria and lower abundance of Bacteroidetes. At lower taxonomic levels, taxa including Enterobacteriaceae, Enterobacter, and Citrobacter, which are often associated with dysbiosis, were enriched in the GHD group, whereas beneficial taxa such as Bacteroides and Ruminococcaceae family members were reduced. A functional prediction analysis revealed enrichment of pathways related to adenosine triphosphate-binding cassette transporters, phosphotransferase systems, quorum sensing, and bacterial motility in children with GHD.</p><p><strong>Conclusion: </strong>Children with GHD showed altered gut microbiota composition and predicted microbial functional pathways despite similar overall microbial diversity. These findings suggest a potential association between gut microbiota alterations and GHD and warrant further investigation in larger well-designed studies.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"797-805"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148841621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Achalasia, alacrimia, and normal adrenal function in a toddler: GDP-mannose pyrophosphorylase A-congenital disorder of glycosylation mimicking Allgrove syndrome.","authors":"Prounika Koppula, Siva Satya Prasun Korrapati, Vybhav Venkatesh","doi":"10.3345/cep.2026.01529","DOIUrl":"10.3345/cep.2026.01529","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"817-819"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148841590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-derived intestinal organoids in pediatric inflammatory bowel disease: applications in disease modeling and therapeutic response prediction.","authors":"Ky Young Cho","doi":"10.3345/cep.2026.00913","DOIUrl":"10.3345/cep.2026.00913","url":null,"abstract":"<p><p>The incidence of pediatric inflammatory bowel disease (PIBD) has risen worldwide, creating significant challenges for healthcare professionals. Compared with adult-onset inflammatory bowel disease, PIBD often presents with more extensive intestinal involvement, a more aggressive course, and complications affecting growth and puberty, making timely disease control critical for PIBD. However, treatment selection remains largely empirical, and many patients fail to respond to initial therapy. Additionally, conventional experimental models, including 2-dimensional cell culture and animal systems, often fail to reproduce the complexities of human intestinal tissues. These limitations highlight the need for human-relevant experimental platforms capable of capturing patient-specific disease biology and supporting precise therapeutic decision-making in PIBD. In this context, patient-derived intestinal organoids have emerged as valuable tools for studying disease mechanisms and evaluating therapeutic responsiveness in patients with PIBD. Organoid-based systems enable direct investigations of epithelial barrier dysfunction, inflammatory signaling, metabolic alterations, and genotype-associated molecular features that provide insight into tissue-level disease heterogeneity. Emerging data suggest that ex vivo drug responses observed in patient-derived intestinal organoids may parallel clinical treatment outcomes, indicating their potential to support more informed therapy selection in PIBD. Despite these advances, current organoid models have important limitations including the absence of immune, stromal, and vascular components as well as challenges related to standardization, scalability, and cost-effectiveness. To overcome these limitations, next-generation platforms incorporating immune cell coculture systems, microbiota, and microfluidic technologies are being developed to better replicate the complexity of the host intestinal microenvironment. As these integrated systems evolve, intestinal organoids are expected to become increasingly powerful tools for disease modeling, biomarker discovery, and therapeutic response prediction, ultimately supporting the development of personalized and effective treatment strategies for PIBD.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"753-761"},"PeriodicalIF":3.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}