Clinical and Experimental Pediatrics最新文献

{"title":"Factors associated with thiamin deficiency in pediatric patients with heart disease and receiving diuretics: a single-center study.","authors":"Phakwan Laohathai, Rathaporn Sumboonnanonda, Puthita Saengpanit, Chodchanok Vijarnsorn, Chatchawan Srisawat, Kwanjai Chotipanang, Sarawut Junnu, Supawan Kunnangja, Hathaichanok Rukprayoon, Phakkanan Phuangphan, Sompong Liammongkolkul, Arthima Phaokong, Narumon Densupsoontorn","doi":"10.3345/cep.2024.01893","DOIUrl":"10.3345/cep.2024.01893","url":null,"abstract":"<p><strong>Background: </strong>Thiamin deficiency (TD) manifesting clinically as wet beriberi can significantly impair a patient's cardiac function. Children with heart disease who are receiving diuretic treatment may be at increased risk for severe clinical manifestations of TD.</p><p><strong>Purpose: </strong>This study aimed to determine the prevalence of TD and evaluate the association between various factors with thiamin status in pediatric patients with heart disease undergoing diuretic treatment.</p><p><strong>Methods: </strong>Children with heart disease aged 1 month to 15 years who exhibited increased pulmonary blood flow or congestive heart failure (CHF) and had been taking diuretics for at least 1 month were recruited. Data regarding their heart condition, treatment, dietary intake, anthropometry, and symptoms and signs of TD were collected. An erythrocyte transketolase activity assay after the addition of exogenous thiamin pyrophosphate was used to assess thiamin status. Left ventricular ejection fraction and N-terminal pro-brain natriuretic peptide levels were indicators of cardiac function and laboratory evidence of CHF, respectively.</p><p><strong>Results: </strong>A total of 68 participants were recruited, of whom 10 (15%) had TD. TD was not associated with a CHF exacerbation. An adequate dietary thiamin intake was associated with a better thiamin status (β=-0.37, P=0.003), while increasing age was linked to a poorer thiamin status (β=+0.40, P=0.001).</p><p><strong>Conclusion: </strong>TD was present in 15% of pediatric patients with heart disease who were receiving diuretic treatment. An adequate dietary thiamin intake appeared to have a protective effect against TD, while increasing age was associated with a poorer thiamin status.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"666-672"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050944","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":"Association of macrophage migration-inhibitory factor gene and growth differentiation factor 15 gene polymorphisms and their circulating levels with respiratory distress syndrome among preterm neonates.","authors":"Ali Helmi Bakri, Mohammed H Hassan, Khaled Abdalla Abd-Elbaseer, Mahmoud Abo-Alhassan Sayed, Ahmed Alamir Mahmoud Abdallah, Eman Ahmed Abd-Elmawgood","doi":"10.3345/cep.2025.00416","DOIUrl":"10.3345/cep.2025.00416","url":null,"abstract":"<p><strong>Background: </strong>In preterm newborns, neonatal respiratory distress syndrome (RDS) is among the main causes of respiratory failure and mortality. However, the effect of macrophage migration-inhibitory factor (MIF) on neonatal developmental lung disease is not well documented in the literature. Moreover, little is known about the effects of growth differentiation factor-15 (GDF-15) on lung maturity in preterm infants.</p><p><strong>Purpose: </strong>To evaluate serum MIF and GDF-15 levels in preterm infants with and without RDS and analyze the genetic profile of single nucleotide polymorphisms (SNPs) for MIF rs755622 G>C and GDF-15 rs4808793 C>G.</p><p><strong>Methods: </strong>In this case-control study, 90 preterm newborns were categorized into 3 groups: group A included 30 preterm newborns with mild to moderate RDS, group B included 30 preterm newborns with severe RDS, and group C included 30 healthy preterm newborns. Enzyme-linked immunosorbent assay methods were used to measure serum MIF and GDF-15 levels. The MIF rs755622 G>C and GDF-15 rs4808793 C>G SNPs were analyzed by restriction fragment length polymorphism-polymerase chain reaction.</p><p><strong>Results: </strong>Significantly higher median MIF and GDF-15 blood levels were noted among neonates with severe RDS (17.32 μg/L and 3.19 pg/mL, respectively) versus those with mild to moderate RDS (5.50 μg/L and 0.71 pg/mL, respectively) (P<0.05 for both). A significantly higher frequency of a mutant C-allele of MIF rs755622 G>C was noted among cases (37.5%) versus controls (13.3%) (P=0.001; odds ratio [OR], 0.256; 95% confidence interval [CI], 0.112-0.589). A significantly higher frequency of a mutant G-allele of GDF-15 rs4808793 C>G SNPs was noted among cases (49.2%) versus controls (30%) (OR, 0.443; 95% CI, 0.229-0.856).</p><p><strong>Conclusion: </strong>These findings suggest that serum MIF and GDF-15 levels are strongly associated with RDS severity among preterm neonates. Moreover, polymorphisms of MIF and GDF-15 could be genetic risk factors for the development of neonatal RDS among preterm babies.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"680-689"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017817","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":"Artificial intelligence in pediatric healthcare: current applications, potential, and implementation considerations.","authors":"Taejin Park, In-Hee Lee, Seung Wook Lee, Sek Won Kong","doi":"10.3345/cep.2025.00962","DOIUrl":"10.3345/cep.2025.00962","url":null,"abstract":"<p><p>Artificial intelligence (AI) has transformed pediatric healthcare by supporting diagnostics, personalized treatment strategies, and prognosis predictions. Although it offers significant promise in these areas, its application in pediatric settings poses distinct challenges compared with that in adults due to variable developmental status, the limited availability of pediatric data, and ethical concerns regarding bias and transparency. This narrative review summarizes the key concepts of AI and its clinical applications across clinical fields in the treatment of children and adolescents. Here we highlight the emerging role of large language models in performing administrative tasks and clinical documentation and supporting decision-making. We also address the evolving impact of AI integration in surgical care as an example while exploring ongoing concerns regarding reliability and diagnostic safety. Furthermore, we survey AI-enabled medical devices and discuss the current regulatory frameworks relevant to pediatric care. This review provides a balanced overview of opportunities and challenges from a pediatrician's standpoint and aims to facilitate effective alignment and collaboration with key stakeholders in pediatric healthcare. Pediatricians must implement AI solutions cautiously and accountably to avoid unintended harm and realize their potential.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"641-651"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800466","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":"Vasovagal syncope and postural orthostatic tachycardia syndrome in adolescents: transcranial doppler versus autonomic function test results.","authors":"Dong Won Lee","doi":"10.3345/cep.2025.00927","DOIUrl":"10.3345/cep.2025.00927","url":null,"abstract":"<p><strong>Background: </strong>Syncope is a temporary loss of consciousness due to cerebral hypoperfusion associated with autonomic dysfunction. Vasovagal syncope (VVS) and postural orthostatic tachycardia syndrome (POTS) are the most common causes of syncope in adolescents.</p><p><strong>Purpose: </strong>Here we conducted a comparative analysis of VVS and POTS in adolescents using transcranial doppler (TCD) and autonomic function tests to identify the mechanisms underlying the occurrence of each.</p><p><strong>Methods: </strong>From August 2014 to July 2024, a tilt-table test was conducted on patients who presented with syncope or presyncope as the main symptom. Based on the head-up tilt test results, the patients were classified into the VVS or POTS groups and their medical records retrospectively analyzed.</p><p><strong>Results: </strong>The study included 137 patients: 100 (73%) in the VVS group and 37 (27%) in the POTS group. There were no significant intergroup differences in patient characteristics. In the TCD, the diastolic blood flow velocity during symptom onset was significantly lower in the VVS versus POTS group (18.40±7.14 cm/sec vs. 22.32±8.48 cm/sec, P=0.008). Additionally, the pulsatility index was higher in the VVS group (1.51±0.41 vs 1.22±0.37, P<0.005). There were no intergroup differences in autonomic function tests results or composite autonomic severity scores.</p><p><strong>Conclusion: </strong>The cerebral blood flow velocity during diastole differs between VVS and POTS, suggesting that it may be a determining factor in the pathogenesis of each.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"673-679"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800487","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":"Cost-effectiveness of newborn screening for severe combined immunodeficiency: a systematic review.","authors":"Rezwanul Rana, Syed Afroz Keramat, Moin Ahmed","doi":"10.3345/cep.2025.00052","DOIUrl":"10.3345/cep.2025.00052","url":null,"abstract":"<p><p>Severe combined immunodeficiency (SCID) is a rare genetic disorder that causes severe infections and death in early childhood. Newborn bloodspot screening (NBS) for SCID using the T-cell receptor excision circle assay can revolutionize the early detection and treatment of infants with SCID, leading to improved quality of life and life expectancy. This systematic review aimed to examine the cost-effectiveness of universal NBS for SCID. The MEDLINE, Embase, National Health Service (NHS) Economic Evaluation Database, Health Technology Assessment, Scopus, and EconLit databases were searched for studies of the NBS for SCID published between January 2008 and March 2024. A standardized data extraction form was used to gather pertinent data such as characteristics, design, perspective, screening strategies and costs, health outcomes, incremental cost-effectiveness ratios, and sources of uncertainty. Eight studies met our inclusion criteria: 6 cost-utility analyses and 2 cost-effectiveness analyses. All studies were model-based economic evaluations. These studies indicated that universal NBS for SCID is highly likely to demonstrate health system and societal cost-effectiveness. The incremental cost-effectiveness ratio per quality-adjusted life-year gained ranged from $30,214 to $54,282 (United States dollars 2022 value). Evidence suggests that early treatment of SCID is beneficial and that population-based NBS provides good value for the money. However, policymakers require better information about optimal treatment and treatment and screening costs to make informed decisions regarding competing healthcare priorities.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"628-640"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12409193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031654","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":"Fecal microbiome profiles in infants with biliary atresia versus nonbiliary atresia cholestasis: a pilot study.","authors":"Nur Azizah, Fadilah Fadilah, Silvia Werdhy Lestari, Muzal Kadim, Fithriyah Sjatha, Hanifah Oswari","doi":"10.3345/cep.2025.00563","DOIUrl":"https://doi.org/10.3345/cep.2025.00563","url":null,"abstract":"<p><strong>Background: </strong>Cholestasis is characterized by disrupted bile flow and can lead to severe liver disease in newborns, of which biliary atresia (BA) is a common cause. The gut microbiome plays a crucial role in aggravating liver injury in BA and non-BA cholestasis. However, information is lacking regarding the differences in gut microbiome composition between patients with BA and non-BA cholestasis.</p><p><strong>Purpose: </strong>This study aimed to assess the gut microbiome profile of infants with BA versus those with non-BA cholestasis and healthy controls in an Indonesian population.</p><p><strong>Methods: </strong>We investigated the changes in the microbial composition of fecal samples from 12 infants with BA and 8 with non-BA cholestasis and compared them with those of 8 age-matched healthy controls (HCs). Fecal DNA from all the participants was subjected to 16S rRNA amplicon sequencing.</p><p><strong>Results: </strong>The fecal microbiome at the phylum level differed between the BA and non-BA cholestasis groups with increased Proteobacteria and decreased Firmicutes. At the genus level, the BA group was enriched with Bacteroides, unclassified Enterobacteriaceae, and Dialister (P<0.05), whereas the non-BA group was enriched with Klebsiella, Chryseobacterium, Acinetobacter, and Pseudomonas (P<0.05). Parabacteroides, unclassified Lachnospiraceae, Actinomyces, Anaerococcus, Clostridium innocuum group, Collinsella, Gemella, and Peptostreptococcaceae (P<0.05) were more enriched in the HC than in the other 2 groups. Detected cytomegalovirus in fecal samples was associated with significant microbial shifts, including increased Lactobacillus, decreased Escherichia-Shigella, and altered Faith's phylogenetic diversity, highlighting its potential role in gut microbiome modulation. Microbial alterations in patients with BA versus non-BA cholestasis were significantly correlated with liver function indicators.</p><p><strong>Conclusion: </strong>The BA and non-BA groups showed specific genus enrichment, highlighting the urgent need to identify potential treatments to inhibit the progression of liver injury in infants with cholestasis.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term epidemiological insights into rickets: a nationwide population-based retrospective study.","authors":"Chun-Hao Chu, Ying-Chuan Chen, Pei-Yao Liu, Chun-Chieh Hu, Yu-Lung Lin, Feng-Chih Kuo, Chieh-Hua Lu, Tzu-Ju Hsu, Yu-Tung Hung, Fuu-Jen Tsai, Chien-Ming Lin","doi":"10.3345/cep.2025.00976","DOIUrl":"https://doi.org/10.3345/cep.2025.00976","url":null,"abstract":"<p><strong>Background: </strong>Rickets is a growth disorder that imposes a global health burden and causes disability in affected children. However, issues related to the clinical epidemiology and mortality risk of nutritional versus hereditary rickets have not been fully investigated in large population studies, particularly in Asia.</p><p><strong>Purpose: </strong>This study aimed to investigate the nationwide incidence, demographic characteristics, and mortality-related risk factors of pediatric rickets stratified by nutritional and hereditary subtypes.</p><p><strong>Methods: </strong>This study utilized data of subjects aged 0-18 years taken from Taiwan's National Health Insurance Research Database. The database includes records of 31,488,321 individuals from January 1, 2008, to December 31, 2018. We analyzed all cases and conducted subgroup analyses of nutritional and hereditary rickets to examine how different etiologies affect the risk of mortality (ROM).</p><p><strong>Results: </strong>Among the 1,551 patients with rickets, nutritional rickets accounted for twice as many cases as hereditary rickets. Nutritional rickets primarily affects preschoolers without sex-based differences, whereas hereditary rickets is often diagnosed later with a male predominance. ROM in rickets is associated with a low household income, anemia, chronic kidney disease (CKD), hyperparathyroidism secondary to renal tubulopathy, and a prolonged length of hospital stay (LOS). Between 2012 and 2018, the overall incidence of rickets increased and the mortality rates decreased.</p><p><strong>Conclusion: </strong>Increasing incidence and decreasing mortality rates of rickets were noted, suggesting improvements in clinical awareness and disease management.influencing ROM, such as family income, anemia, CKD, hyperparathyroidism secondary to renal tubulopathy, and LOS are important considerations in the clinical care of rickets.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evolving treatment strategies for invasive Streptococcus pyogenes in children in the postpandemic era.","authors":"Laura Buricchi, Giuseppe Indolfi, Marco Renni, Elisabetta Venturini, Luisa Galli, Elena Chiappini","doi":"10.3345/cep.2025.00479","DOIUrl":"https://doi.org/10.3345/cep.2025.00479","url":null,"abstract":"<p><strong>Background: </strong>: Streptococcus pyogenes (group A Streptococcus [GAS]) is a common cause of bacterial pharyngitis and skin infections in children that can lead to severe and invasive GAS (iGAS) infections. The sudden acute respiratory syndrome coronavirus 2 pandemic coincided with an increase in iGAS cases, with emerging serotypes and risk factors like age, reduced postpandemic immunity, and viral coinfections. The treatment of iGAS with clindamycin and intravenous immunoglobulins (IVIG) is not well standardized, and pediatric data are limited. Linezolid is being explored as an alternative to clindamycin, although further research is required.</p><p><strong>Purpose: </strong>: This study aimed to evaluate the treatment of iGAS in hospitalized children with focus on the effectiveness of standard treatments and the role of alternative interventions in cases of treatment failure, including the use of linezolid or severe infections. Additionally, this study sought to identify the potential risk factors for pediatric intensive care unit (PICU) admission.</p><p><strong>Methods: </strong>: A retrospective observational study was conducted in children aged <18 years admitted to Meyer University Children's Hospital (September 2022 to September 2024) with confirmed or probable iGAS. Their anonymized general information, symptoms, laboratory test results, microbiological test results, coinfections, radiological examination results, antibiotic and nonantibiotic therapies, discharge information, and outcomes were collected.</p><p><strong>Results: </strong>: Forty-six children with confirmed/probable iGAS (median age, 53.7 months) were included. Of them, 34 (73.9%) had confirmed iGAS and 12 (26.1%) had probable iGAS. Sixteen children (34.8%) with iGAS were admitted to the PICU; of them, 2 died. All children received beta-lactam antibiotics; in 5 cases (10.9%), linezolid was administered after beta-lactam and clindamycin therapy failure. Thirty patients (65.2%) underwent surgery. Of the study population, 22% had preexisting conditions and 17% had viral respiratory coinfections. Elevated C-reactive protein and procalcitonin levels were independent risk factors for PICU admission. IVIG administered to 3 patients had varying outcomes.</p><p><strong>Conclusion: </strong>: Our findings highlight how treatment strategies and disease patterns have shifted in the postpandemic period. Pneumonia with a parapneumonic abscess or empyema has emerged as the most frequent clinical presentation, with nearly half of such cases requiring second-line linezolid therapy. Linezolid may be a valuable treatment alternative after beta-lactam and clindamycin failure. IVIG has been used in severe cases but often late, warranting further investigation into its optimal application.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum copper and ceruloplasmin levels as biomarkers reflecting liver fibrosis in children with autoimmune hepatitis.","authors":"Salma Abdel Megeed Nagi, Mai Ibrahim Elashmawy, Amany E Elashkar, Mohamed Zaeim Hafez, Ashraf A E Emara, Osama Mohammad Abdelhay, Albayoumi A B Fouda, Mohamed AbdelAziz Doma, Ahmad Mohamed Awad, Ahmed Mohammed Saba, Hesham Abdelrahman Ahmed, Ahmed Mohamed Gad Allah, Fatma Mahmoud Abdelraheem, Mohamed A Gad, Mohamad A Soliman, Tamer I Abdalrhman, Khaled Hassaan Awad, Ismael A K M El-Lebedy, Mostafa M Abdelnaser, Mohammed Z Abdel Kareem, Marwa Fekry Hassan, Shymaa Sobhy Menshawy Khalifa","doi":"10.3345/cep.2025.01011","DOIUrl":"https://doi.org/10.3345/cep.2025.01011","url":null,"abstract":"<p><strong>Background: </strong>Clinical, biochemical, histological, and immunological indicators are frequently used to diagnose autoimmune hepatitis (AIH), a chronic inflammatory liver disease affecting children. Wilson disease, which resembles AIH, is mainly evaluated using serum ceruloplasmin and copper levels. However, changes in these biomarkers have also been observed in AIH, raising the question of whether they could be useful for evaluating children with AIH.</p><p><strong>Purpose: </strong>When selecting a treatment plan and estimating the long-term prognosis of patients with AIH, assessing the liver fibrosis stage is crucial. It is also crucial to identify noninvasive indicators of liver fibrosis, for which ceruloplasmin has been suggested as a biomarker in several liver diseases. Therefore, this study aimed to investigate the potential significance of serum ceruloplasmin and copper levels for identifying liver fibrosis in children with AIH.</p><p><strong>Methods: </strong>One hundred children with AIH treated at Menoufia University's National Liver Institute Pediatric Hepatology, Gastroenterology, and Nutrition Department were enrolled. The duration of the study was 5 years (February 2020 to February 2025). The patients' histopathological, radiographic, laboratory, and clinical data were collected. We used the revised score to diagnose AIH. A Beckman Coulter AU480 chemistry analyzer was used to measure serum copper, while an enzyme-linked immunosorbent assay was used to measure serum ceruloplasmin.</p><p><strong>Results: </strong>Serum ceruloplasmin levels were considerably lower in patients with advanced fibrosis (F3-4) than in those without advanced fibrosis (F0-2) (P<0.001). However, in patients with extensive fibrosis, the serum copper levels were considerably elevated (P<0.001). Compared to serum copper level, which had an area under a curve of 0.939 (95% confidence interval [CI], 0.887-0.991; P<0.001) and a cutoff of >24.7 mg/dL (90.8% sensitivity, 66.9% specificity), ceruloplasmin level had an area under a curve of 0.945 (95% CI, 0.889-1.00; P<0.001), suggesting that it could be a useful tool for the detection of advanced liver fibrosis in children.</p><p><strong>Conclusion: </strong>To estimate the long-term prognosis of patients with AIH, it is crucial to assess liver fibrosis stage. It is crucial to identify noninvasive indicators of liver fibrosis, for which ceruloplasmin has been suggested as a biomarker. Therefore, serum copper and ceruloplasmin levels may provide important information for the identification of advanced liver fibrosis in children with AIH.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Bak and Bcl-Xl gene expression among pediatric patients with acute primary immune thrombocytopenia.","authors":"Amira Zaki Badawy, Samia Hassan Kandel, Iman Aly Ahmedy, Mahmoud Ahmed Elhawy, Sally Mohamed El-Hefnawy, Dina Fouad Sief El-Nasr Zidan, Hanan Hassan El-Sheity","doi":"10.3345/cep.2025.00997","DOIUrl":"https://doi.org/10.3345/cep.2025.00997","url":null,"abstract":"<p><strong>Background: </strong>Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by a low platelet counts and an increased risk of bleeding. Moreover, the apoptotic mechanisms of platelets may influence their production and lifespan.</p><p><strong>Purpose: </strong>To assess the involvement of apoptotic markers-specifically the B-cell lymphoma protein 2 family proteins Bak and Bcl-Xl in the pathogenesis of acute primary ITP in pediatric patients, and to evaluate the impact of intravenous immunoglobulin (IVIG) therapy on their expression.</p><p><strong>Methods: </strong>This study included 24 children with acute primary ITP and 30 healthy controls. Patients were enrolled from the Hematology and Oncology Unit of Menoufia University Hospitals, Egypt. Two peripheral blood samples were obtained from each participant: one prior to receiving IVIG therapy and the other after treatment. Platelet-rich plasma was isolated, and Bak and Bcl-Xl gene expression levels were assessed using reverse transcription quantitative polymerase chain reaction.</p><p><strong>Results: </strong>Before treatment, Bak gene expression and Bak/Bcl-Xl expression ratio were significantly higher in patients versus controls (P=0.001 and P<0.001, respectively), whereas Bcl-Xl gene expression was significantly lower (P= 0.029). After treatment, Bak gene expression and the Bak/Bcl-Xl expression ratio decreased significantly (P<0.001 and P=0.001, respectively), whereas Bcl-Xl gene expression increased significantly (P<0.001).</p><p><strong>Conclusion: </strong>Pediatric patients with acute primary ITP exhibited a heightened proapoptotic state, as indicated by an increased Bak expression and Bak/Bcl-Xl expression ratio, as well as a reduced Bcl-Xl expression. IVIG therapy appears to mitigate this pro-apoptotic effect, suggesting its ability to restore platelet homeostasis.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}