Clinical and Experimental Pediatrics最新文献

{"title":"Aplasia cutis congenita with unique vascular malformation and cranial hypoplasia: a case in a preterm infant.","authors":"Yasufumi Sakata, Natsumi Fujii, Sadahiro Nomura, Yoshihiro Azuma, Hiroki Hamano, Hidenobu Kaneyasu, Seigo Okada, Kazumasa Takahashi, Shunji Hasegawa","doi":"10.3345/cep.2024.01998","DOIUrl":"10.3345/cep.2024.01998","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"472-474"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12146677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626364","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 Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study.","authors":"Saheli Roy, Paramita Bhattacharya, Atanu Kumar Dutta, Mrinal Kanti Das","doi":"10.3345/cep.2024.01284","DOIUrl":"10.3345/cep.2024.01284","url":null,"abstract":"<p><strong>Background: </strong>Fetal hemoglobin (HbF) inducers, among which hydroxyurea is the most extensively used, have shifted the paradigm toward the treatment of non-transfusion-dependent thalassemia (NTDT). Xmn1 polymorphism (rs7482144) is characterized by substitution (C>T) at -158 position of the γ-globin gene, which leads to CC, CT, or TT genotype. Recently, the role of the Xmn1 polymorphism as a modifier of hydroxyurea therapy has attracted immense research interest.</p><p><strong>Purpose: </strong>This study aimed to estimate the prevalence of the Xmn1 polymorphism and determine its impact on the efficacy of hydroxyurea therapy in children with NTDT in Eastern India.</p><p><strong>Methods: </strong>This observational ambispective cohort study involved the assessment of 50 patients with NTDT, of whom 28 qualified, who had been receiving hydroxyurea for less than a month. Relevant molecular analyses were performed, and data on the annual transfusion requirement (ATR), height, and HbF level before starting hydroxyurea treatment were derived from medical records. The same parameters were reassessed after 6 months of hydroxyurea therapy. Furthermore, patients were monitored for drug toxicity.</p><p><strong>Results: </strong>All patients included in this study exhibited HbE-β-thalassemia, thus implying it to be one of the commonest NTDT genotypes in Eastern India. The prevalence rates of CC and CT were 43% and 57%, respectively, and none of the patients harbored the TT genotype. Toxicity developed in 22% of patients; however, it was not significantly associated with the Xmn1 polymorphism. Significant decrease in ATR and increase in height were observed following hydroxyurea therapy in both groups. Nevertheless, the change was more marked in CT genotype (median ATR drop: 33%, increase in median height: 3.7%, pCT=0.001) than in CC genotype (median ATR drop: 28%, increase in median height: 2.8%, pCC= 0.003).</p><p><strong>Conclusion: </strong>The T allele of the Xmn1 polymorphism had a favorable effect on the efficacy of hydroxyurea in patients with HbE-β-NTDT.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"437-444"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12146598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123800","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":"Effect of postoperative enteral protein supplementation on nitrogen balance in critically ill children.","authors":"Irene Yuniar, Kadek Apik Lestari, Antonius Hocky Pudjiadi, Fatima Safira Alatas, Yoga Devaera","doi":"10.3345/cep.2025.00227","DOIUrl":"https://doi.org/10.3345/cep.2025.00227","url":null,"abstract":"<p><strong>Background: </strong>Critically ill children are at risk of postoperative malnutrition. Thus, optimal nutritional therapy is essential for preventing morbidity development and reducing mortality rates among this population. An adequate protein intake increases anabolism. However, data on the effect of enteral protein supplementation on nitrogen balance and intestinal fatty acid-binding protein (I-FABP) levels in postoperative critically ill children remain limited.</p><p><strong>Purpose: </strong>This study aimed to analyze whether an increased protein intake via enteral nutrition improves nitrogen balance and reduces serum I-FABP levels among postoperative critically ill children.</p><p><strong>Methods: </strong>This double-blind randomized controlled trial examined critically ill children aged 1-5 years who received early postoperative enteral nutrition. A total of 76 subjects were randomized into a standard-protein group (3.0 g/100 mL) or a high-protein group (4.35 g/100 mL). Nitrogen balance was assessed on days 1 and 3, while I-FABP levels were measured before and after 72 h of enteral feeding.</p><p><strong>Results: </strong>The high-protein group showed a significantly greater increase in average nitrogen balance (283.4 [standard deviation, 82.5] mg/kg/day) compared to the standard-protein group (114.7 [standard deviation, 53] mg/kg/day) (p < 0.0001). However, no significant decrease in I-FABP levels was noted in either group despite the above- and below-average nitrogen balance improvements.</p><p><strong>Conclusion: </strong>High-protein enteral supplementation improves nitrogen balance in postoperative critically ill children without causing adverse side effects.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226988","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":"Adenosine deaminase and interleukin-1 receptor antagonist genetic polymorphisms among obese children with versus without metabolic dysfunction-associated fatty liver disease.","authors":"Hala M Sakhr, Mohammed H Hassan, Azza Mohamed Taha, Ali Helmi Bakri","doi":"10.3345/cep.2025.00731","DOIUrl":"https://doi.org/10.3345/cep.2025.00731","url":null,"abstract":"<p><strong>Background: </strong>Metabolic disorder-associated fatty liver disease (MAFLD) in children is an emerging global health concern, particularly in terms of obesity and metabolic disturbances. Inflammation plays a crucial role in the pathogenesis of MAFLD, with adenosine deaminase (ADA) and interleukin-1 receptor antagonist (IL-1Ra) being potential contributors.</p><p><strong>Purpose: </strong>This study aimed to assess the association between ADA G22A and IL-1Ra single nucleotide polymorphisms (SNPs) and MAFLD among a cohort of Egyptian children. It also aimed to evaluate the validity of VLDL/HDL-C and triglyceride-to-HDL-C ratios for predicting MAFLD in obese children.</p><p><strong>Methods: </strong>One hundred obese children and 50 healthy controls were included. The obese group was further categorized into those with versus without MAFLD. IL-1Ra and ADA G22A SNPs were evaluated using conventional polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)-PCR, respectively. VLDL/HDL and triglyceride-to-HDL ratios were calculated from the lipid profiles of the included participants.</p><p><strong>Results: </strong>The obese children had significantly higher weight, weight Z-score, body mass index (BMI), BMI Z-score, and waist circumference than the healthy controls. These parameters were considerably higher in children with versus without MAFLD p˂0.05 all. The GG genotype and G allele of ADA G22A were significantly more frequent in the obese children versus controls (p˂0.05 for both); however, no significant difference was observed between obese children with versus without MAFLD. Regarding IL-1Ra polymorphisms, the *2/*2 genotype was more common in the controls and obese children without MFLD, whereas the *1/*2 genotype was prevalent in the obese children with MAFLD (p˂0.05 all). A VLDL/HDL-C cutoff ratio of >0.6308 showed 80% sensitivity, 58% specificity, a 65.6% positive predictive value (PPV), a 74.4% negative predictive value, and 69% accuracy at differentiating among MAFLD cases. The triglyceride-to-HDL-C ratio cutoff of >3.0685 demonstrated high specificity (88%) and a high PPV (84.2%) but moderate sensitivity (64%) and overall accuracy (76%).</p><p><strong>Conclusion: </strong>The current study's findings support the possible genetic role of ADA G22A in childhood obesity, with a significant role for the IL-1Ra SNP in the development of MAFLD in obese children. The triglyceride-to-HDL-C ratio was more useful than the VLDL/HDL-C ratio for predicting pediatric MAFLD.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181393","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":"Navigating the complex behavioral landscape of children in foster care and adopted families.","authors":"Anisha Choi, Sandhya J Kadam","doi":"10.3345/cep.2025.00822","DOIUrl":"https://doi.org/10.3345/cep.2025.00822","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081118","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":"Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1.","authors":"Manuela Lo Bianco, Federica Sipala, Xena Giada Pappalardo, Gaia Fusto, Roberta Rizzo, Federico Favata, Carla Cimino, Silvia Marino, Martino Ruggieri, Agnese Suppiej, Simone Ronsisvalle, Raffaele Falsaperla","doi":"10.3345/cep.2025.00360","DOIUrl":"https://doi.org/10.3345/cep.2025.00360","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081106","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":"Metabolic dysfunction-associated steatotic liver disease in children: a practical update based on Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition (ISPGHAN) 2024 guidelines.","authors":"Ankit Agrawal, Arghya Samanta","doi":"10.3345/cep.2025.00157","DOIUrl":"https://doi.org/10.3345/cep.2025.00157","url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081115","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":"Anxiety disorders presenting as gastrointestinal symptoms in children - a scoping review.","authors":"Anjali Kumar, Pramodh Vallabhaneni","doi":"10.3345/cep.2024.01732","DOIUrl":"10.3345/cep.2024.01732","url":null,"abstract":"<p><p>Functional gastrointestinal disorders (FGID) and their association with anxiety disorders in children significantly impact a child's functioning and treatment response. This study aimed to scope the evidence of anxiety disorders manifesting as FGID in children up to 16 years old. A comprehensive search strategy was conducted on Embase (1974-2024), MEDLINE (via EBSCOHost 1946-2024), and APA PsycINFO (via EBSCOHost 1967-2024). Articles were retrieved, screened, and assessed for bias using the GRADE system. Our initial search yielded 1984 articles. After screening titles and abstracts, 53 articles remained. Full-text screening further narrowed this to 4 eligible studies. The first study found that anxiety indirectly influenced abdominal pain severity in children with irritable bowel syndrome. The second study reported an association between anxiety and abdominal pain but found that anxiety might not predict abdominal pain in later childhood. The third study suggested FGID could be a risk factor for anxiety, with higher anxiety rates in children with FGID compared to those without. The fourth study found no significant difference in pain intensity between children with functional abdominal pain disorders (FAPD) alone and those with FAPD and anxiety. The reviewed studies indicate a relationship between anxiety and FGID but lack clarity on directionality or causation. The limited number of studies calls for more research, including case-control studies with large sample sizes and longitudinal cohort studies to investigate the incidence and causation.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"344-351"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984852","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":"Differential effects of dietary and physical activity interventions on adiposity of children with obesity.","authors":"Anekchoke Tangtongsoong, Chonnikant Visuthranukul, Yuda Chongpison, Sirinuch Chomtho","doi":"10.3345/cep.2024.01347","DOIUrl":"10.3345/cep.2024.01347","url":null,"abstract":"<p><strong>Background: </strong>Managing obesity in children remains challenging. In addition to body mass index (BMI), incorporating body composition into evaluations of postobesity interventions would help assess changes in adiposity.</p><p><strong>Purpose: </strong>This study aimed to identify the relationship between dietary intake, physical activity, and changes in BMI z scores and adiposity among children with obesity.</p><p><strong>Methods: </strong>Children aged 7-15 years with obesity received monthly dietary and physical activity instructions for 6 months. Three-day dietary records and physical activity questionnaires were collected at 0, 3, and 6 months. Body composition was measured using bioelectrical impedance analysis. These relationships were analyzed using uni- and multivariate linear regression analyses.</p><p><strong>Results: </strong>A total of 155 children with obesity completed the 6-month study. A higher total protein intake per ideal weight for height was significantly correlated with a decrease in BMI z score and trunk fat mass index (trunk fat mass [FM] in kg/height in m2). Mean dietary fiber intake was negatively correlated with BMI z score, FM, FM index (FMI, FM in kg/height in m2), and visceral fat area (VFA) at 6 months. Each 1 g/kg/day increase in protein intake and additional 1 g/day of dietary fiber intake led to a 0.191 kg/m2 (95% confidence interval [CI], -0.309 to -0.072) and 0.028 kg/m2 (-0.05 to -0.005) reduction in BMI z score. Each 1 g/day increase in protein intake led to a reduction of 0.009 kg/m² in trunk FMI (-0.016 to -0.002) and 0.21 cm² in VFA (-0.418 to -0.002). The outcomes observed at 6 months were consistent with the overall 6-month findings, reinforcing the efficacy of the intervention.</p><p><strong>Conclusion: </strong>Our study showed beneficial effects of high dietary protein and fiber intakes on BMI z scores and adiposity of children with obesity. Fine-tuning dietary interventions that emphasize appropriate protein and fiber intakes may be more practical for managing childhood obesity.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"370-378"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123798","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":"Global burden of asthma among children and adolescents with projections to 2050: a comprehensive review and forecasted modeling study.","authors":"Tae Hyeon Kim, Hyunjee Kim, Jiyeon Oh, Soeun Kim, Michael Miligkos, Dong Keon Yon, Nikolaos G Papadopoulos","doi":"10.3345/cep.2025.00423","DOIUrl":"https://doi.org/10.3345/cep.2025.00423","url":null,"abstract":"<p><p>Understanding pediatric asthma is crucial to its effective diagnosis and intervention, as it may alleviate the adulthood disease burden. This epidemiological review describes the prevalence of asthma among individuals under 20 years of age by categorizing them into 3 age groups: 1-4, 5-9, and 10-19 years. Estimates were obtained from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021, which covered the prevalence of asthma from 1990 to 2021 across 21 GBD regions with 95% uncertainty intervals (UIs). We also projected the prevalence of pediatric asthma in 2050 by using a logistic regression predictive model from the existing literature and incorporating body mass index as a covariate with fixed coefficients over time. Overall, a continuous decline in asthma prevalence rates among children and adolescents was observed from 1990 to 2021, with higher rates in males and a peak prevalence rate in the 5-9 years group. Central Europe showed significantly increased prevalence rates compared to those of other regions. Our projection suggests that the prevalence rate of pediatric asthma will decline to approximately 2,608.05 per 100,000 population by 2050 (95% UI, 1,632.94-3,868.26), representing a 39.5% decrease from the 2021 figures. Despite these trends, asthma remains a substantial health burden for children and adolescents that may persist into adulthood. Therefore, proactive diagnosis and intervention are essential to mitigating the associated disease burden.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":"68 5","pages":"329-343"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053231","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}