Clinical and Experimental Pediatrics最新文献

{"title":"Neonatal care in a low-birthrate society: insights from population-based observations in Japan.","authors":"Hirokazu Arai, Hiroshi Miura, Yohei Onodera, Hiroyuki Adachi, Akira Sato, Tomoo Ito, Masaru Mizuno","doi":"10.3345/cep.2026.01095","DOIUrl":"10.3345/cep.2026.01095","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"683-685"},"PeriodicalIF":3.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593820","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":"Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants.","authors":"Amresh Kumar Mishra, Moinak Sen Sarma, Anchal Dubey, Pratik Gadekar, Amita Moirangthem, Anshu Srivastava, Amrita Mathias","doi":"10.3345/cep.2026.00689","DOIUrl":"10.3345/cep.2026.00689","url":null,"abstract":"<p><strong>Background: </strong>Genotype-phenotype correlations in Wilson disease (WD) have so far been inconclusive.</p><p><strong>Purpose: </strong>ATP7B variants with loss of function (LOF) may have a different trajectory. Since genotypes in Asia differ from the West, we aimed to correlate LOF variants of ATP7B with the severity and outcome of hepatic WD.</p><p><strong>Methods: </strong>Patients with a confirmed diagnosis of WD (Leipzig criteria ≥4) were prospectively enrolled. Genetic sequencing of ATP7Bmutations was assessed by Whole-exome sequencing. For patients with variants of uncertain significance, Sanger sequencing was additionally performed on their parents to identify the inherited variants. In silico analyses were used to predict the pathogenicity of variants. Mutations that resulted in at least one truncation (nonsense, frameshift, splice site, deletions) and nontruncation (missense, synonymous) protein were defined as LOF and no LOF (NLF) respectively. Phenotypes, biochemical parameters, and outcomes were analyzed.</p><p><strong>Results: </strong>One hundred sixteen hepatic WD children (84 boys, median age at diagnosis 8.9±3.3 years) with biallelic ATP7B mutations (62 different variants) were enrolled. The most common LOF (n=79) and NLF (n=37) variants were c.813C>A and c.3809A>G. Advanced liver disease (76% vs. 4%, P=0.004), portal hypertension (44% vs. 24%, P=0.03), neurological (39% vs. 16%, P=0.01) and renal involvement (44% vs. 13%, P=0.01) were significantly higher in LOF than in NLF. c.813C>A had higher serum exchangeable copper (6.8±4.4 μmol/L vs. 1.4±3.5 μmol/L, P=0.04) and lower disappearance of the Kayser-Fleischer ring (4% vs. 49%, P= 0.01) than c.3809A>G variants. Over a follow-up of 6.1±4.7 years, a single LOF variant did not show a poorer liver or overall outcomes in comparison to ≥2 LOF variants.</p><p><strong>Conclusion: </strong>A single ATP7B LOF variant, especially c.813C>A was associated with advanced liver disease, portal hypertension, and extrahepatic involvement. LOF variants did not affect liver or overall outcomes.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"646-654"},"PeriodicalIF":3.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437981","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":"Network-based biomarkers in pediatric drug-resistant epilepsy.","authors":"Joseph Lim, Jaeso Cho, Hunmin Kim","doi":"10.3345/cep.2026.01774","DOIUrl":"10.3345/cep.2026.01774","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"636-638"},"PeriodicalIF":3.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593788","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 rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy.","authors":"Bashair Alabbasi, Mugahid Elamin, Ghadah Alsallum, Ghada Alzahrany","doi":"10.3345/cep.2026.01473","DOIUrl":"10.3345/cep.2026.01473","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"676-679"},"PeriodicalIF":3.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593762","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-independent automated pediatric seizure monitoring based on expert-labeled electrographic ictal data as core reference knowledge.","authors":"Yoon Gi Chung, Jaeso Cho, Anna Cho, Hunmin Kim, Byung Chan Lim","doi":"10.3345/cep.2026.01011","DOIUrl":"10.3345/cep.2026.01011","url":null,"abstract":"<p><strong>Background: </strong>Automated seizure detection using scalp electroencephalography (EEG) is essential to the efficient monitoring of seizures in patients with epilepsy. However, patient-independent seizure detection remains challenging, primarily because of the inherent intersubject variability in EEG characteristics.</p><p><strong>Purpose: </strong>We proposed a patient-independent seizure detection approach based on 1,604 single-channel electrographic focal-onset ictal EEG segments verified by epileptologists in patients with focal epilepsy.</p><p><strong>Methods: </strong>We constructed deep learning models trained on these segments and applied them to individual EEG channels to identify seizure occurrences. To evaluate patient-independent detection performance, we conducted internal validation using the 2 datasets employed for segment acquisition, followed by external validation with an independent unseen dataset obtained from a tertiary medical institution.</p><p><strong>Results: </strong>In the internal validation using a leave-one-patient-out scenario, overall sensitivity, false alarm rate, and latency were 80.1%-100%, 0.64-1.13/hr, and 8.0-21.4 seconds, respectively. In the external validation using the final seizure detection model, the corresponding values were 100%, 0.38-0.67/hr, and 10.0-10.2 seconds, respectively, according to detection length. This technique outperformed those of previous patient-independent studies that employed relatively simple deep learning tasks.</p><p><strong>Conclusion: </strong>A curated set of expert-labeled ictal EEG segments served as the core reference knowledge for the proposed seizure detector in recognizing seizure occurrence in unseen patients. Because the proposed approach analyzes individual channels in parallel, it may be clinically applicable to continuous seizure monitoring, particularly in wearable seizure detection systems with a limited number of channels.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"665-675"},"PeriodicalIF":3.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593746","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":"Did government subsidy program improve quality of care for children with complex chronic conditions in children's hospitals? A quasi-experimental study in South Korea.","authors":"Riyoung Na, Myoung-Hee Kim, Seok-Jun Yoon","doi":"10.3345/cep.2026.00199","DOIUrl":"10.3345/cep.2026.00199","url":null,"abstract":"<p><strong>Background: </strong>Despite advances in medical technology, the number of children with complex chronic conditions (CCC) is increasing. Pediatric critical care involves high cost and low revenue. To address this issue, the Korean government designated and financially supported Specialized Public Medical Centers for Children (SPMCCs). However, rigorous evidence of their effectiveness remains limited.</p><p><strong>Purpose: </strong>We analyzed 30-day readmission rates to determine whether SPMCC designations contributed to improvements in pediatric critical quality of care and assess the presence of a measurable policy effect on readmission reduction.</p><p><strong>Methods: </strong>We included pediatric patients aged 0-18 years with a principal diagnosis of CCC and received care at SPMCCs between 2015 and 2021 using data from the customized National Health Insurance Service database. We applied an interrupted time series analysis with segmented regression to estimate the immediate level and postintervention slope changes in 30-day readmission rates following SPMCC designation. SPMCCs were classified into first and second designation groups based on the timing of their designation.</p><p><strong>Results: </strong>The 30-day readmission rates increased over time in the first and second designation groups. The first group showed a nonsignificant immediate level change at designation (-2.65 percentage points [pp]) but a significant decline in the postintervention slope of observed rates (-1.72 pp per quarter; P<0.001). Likewise, the adjusted 30-day readmission rates showed a nonsignificant level change (-0.75 pp; P=0.69) and a significant slope decline (-1.84 pp/quarter; P<0.001). The second group showed downward trends in 30-day readmission rates after designation in the observed and adjusted analyses; however, these trends were not statistically significant.</p><p><strong>Conclusion: </strong>The SPMCC designation was associated with a meaningful reduction in the trajectory of 30-day readmissions in the first group, providing evidence of a policy-induced reduction in readmissions. These findings highlight the importance of a sustained government investment in maintaining and expanding improvements and strengthening pediatric critical care services.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"582-592"},"PeriodicalIF":3.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144846","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":"Telomere biology disorders in childhood interstitial lung disease: new insights from the chILD-EU cohort.","authors":"Andrew Courtwright","doi":"10.3345/cep.2026.01389","DOIUrl":"10.3345/cep.2026.01389","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":"69 7","pages":"542-544"},"PeriodicalIF":3.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377261","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":"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.2026.00675","DOIUrl":"10.3345/cep.2026.00675","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Constitutional delay of growth and puberty (CDGP), the most common cause of delayed puberty in boys, accounts for the majority of pediatric endocrinology referrals. Although traditionally viewed as a variant of normal development, affected adolescents frequently experience short stature relative to their peers, delayed secondary sexual characteristics, and clinically meaningful psychosocial distress. Short-course low-dose testosterone has been used for more than 5 decades to accelerate pubertal progression and linear growth; however, the evidence base is heterogeneous and has not been synthesized in a PubMed-indexed review anchored in original testosterone studies. To systematically review PubMed-indexed studies from the last 40 years evaluating testosterone therapy in boys with CDGP or closely related self-limited delayed puberty and perform an exploratory meta-analysis of outcomes for which directly extractable comparative data are available. PubMed was searched from January 1, 1986, to March 10, 2026, for relevant original studies, systematic reviews, and meta-analyses. Eligible reports enrolled boys with CDGP or self-limiting delayed puberty treated with testosterone and reported growth, pubertal progression, bone age, predicted or near-adult height, or safety outcomes. Randomized studies were appraised by the Cochrane revised tool for risk of bias in randomized trials, while nonrandomized studies were appraised using the Risk of Bias in Non-randomized Studies - of Interventions. Random-effects mean differences (MDs) for height velocity were calculated when comparative means and dispersions were extractable. Twenty original studies involving 1,329 boys met the qualitative inclusion criteria, together with 2 supporting evidence syntheses. Across formulations (intramuscular testosterone enanthate or cypionate, depot ester mixtures, oral testosterone undecanoate, and transdermal gel), the literature consistently showed greater short-term height velocity and more rapid pubertal progression in treated boys without a clinically meaningful adverse effect on near-adult height when conservative regimens were used. Only 2 controlled studies (46 boys) directly provided pooled height velocity data. Random-effects pooling showed a statistically significant increase in short-term height velocity with testosterone versus placebo or no treatment (MD, 2.40 cm/yr; 95% confidence interval, 1.49-3.32; I²=0%). Narrative evidence from long-term studies does not support the detrimental effects of brief low-dose testosterone administration on near-adult or adult height. Testosterone therapy in boys with CDGP was associated with faster short-term growth and pubertal maturation, and long-term data did not show a detrimental effect on near-adult height when conservative time-limited regimens were used. The quantitative evidence base is small and methodologically heterogeneous, and modern multicenter randomized trials incorporating validated patient-reported outco","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"531-541"},"PeriodicalIF":3.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279172","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":"Telomere biology disorders associated with childhood interstitial lung disease.","authors":"Maria Greiner-Mai, Christina Katharina Rapp, Katrin Knoflach, Daniel Gräfe, Franz Wolfgang Hirsch, Julia Ley-Zaporozhan, Simone Reu-Hofer, Julia Hentschel, Stefan Zielen, Monika Helena Tedy, Heymut Omran, Ernst Rietschel, Tuğba Sismanlar Eyuboglu, Ayse Tana-Aslan, Nagehan Emiralioglu, Nicola Ullmann, Samuele Naviglio, Massimo Maschio, Fabian Beier, Tuğba Ramaslı Gürsoy, Matthias Griese, Freerk Prenzel","doi":"10.3345/cep.2026.00290","DOIUrl":"10.3345/cep.2026.00290","url":null,"abstract":"<p><strong>Background: </strong>Telomere biology disorders (TBDs) are rare inherited defects in telomere maintenance associated with multisystem diseases. Although pulmonary fibrosis has been well described in adults, data remain limited on childhood interstitial lung disease (chILD) related to TBDs.</p><p><strong>Purpose: </strong>This study aimed to characterize the pulmonary phenotype, genetic spectrum, and clinical course of pediatric TBD-associated chILD.</p><p><strong>Methods: </strong>We performed this registry-based cohort study using the European chILD-EU database to identify children with telomere maintenance gene variants. Their clinical data, longitudinal outcomes, telomere length (quantitative polymerase chain reaction), high-resolution computed tomography (HRCT), and histopathology findings were systematically analyzed.</p><p><strong>Results: </strong>Ten children were identified with genetically confirmed or suspected TBDs harboring variants in TERT, TERC, WRAP53, DKC1, PARN, and RTEL1. Telomere length was below the 1st age-adjusted percentile in 6 of the 8 tested patients. The HRCT findings were heterogeneous and included ground-glass opacities, reticular changes, cystic lesions, and emphysema. The histopathological patterns included cellular nonspecific interstitial pneumonia, usual interstitial pneumonia, follicular bronchiolitis, and pleuroparenchymal fibrosis. The disease course was frequently severe: 7 of the 10 patients required long-term oxygen therapy, 3 underwent hematopoietic stem cell transplantation, and 4 died during follow-up.</p><p><strong>Conclusion: </strong>TBD-associated chILD is a rare but clinically aggressive multisystem disorder with a broad radiological and histopathological spectrum. Early genetic testing and multidisciplinary management are essential since affected children may experience rapid disease progression and substantial mortality.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"593-603"},"PeriodicalIF":3.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279194","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":"Peripheral blood cell counts of prematurely born, small for gestational age neonates.","authors":"Mara O Zuiderwijk, Sophie Groene, Enrico Lopriore, Vincent Bekker, Michiel H D Schoenaker","doi":"10.3345/cep.2025.02978","DOIUrl":"10.3345/cep.2025.02978","url":null,"abstract":"<p><strong>Background: </strong>Neonates born small for gestational age (SGA) are at an increased risk of multiple severe complications, including infections. This suggests that immune cells and other peripheral blood cells may be affected.</p><p><strong>Purpose: </strong>Here we aimed to investigate whether SGA severity affects complete blood count and leukocyte differentiation of preterm neonates with a gestational age (GA) of <35 weeks and identify clinical factors that influence cell counts.</p><p><strong>Methods: </strong>This retrospective cohort study investigated the complete blood count sampled within 72 hours after birth in 1,940 preterm neonates admitted to the neonatal intensive care unit of Leiden University Medical Center. The neonates were divided into extreme SGA (<3rd birth weight percentile), moderate SGA (>3rd to <10th birth weight percentile), and controls (>10th birth weight percentile).</p><p><strong>Results: </strong>After multivariate analysis, extremely SGA neonates showed significantly decreased neutrophil, monocyte, lymphocyte, and thrombocyte counts. Thrombocyte counts were significantly lower in moderately SGA neonates than controls. In contrast, SGA status had no significant effect on erythrocyte count or hemoglobin concentration.</p><p><strong>Conclusion: </strong>Blood cell counts of extremely SGA neonates were decreased, mainly in the white blood cell line. The mechanisms underlying these decreased counts in SGA infants, especially their clinical effects, remain unclear.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"572-581"},"PeriodicalIF":3.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989387","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}