World Journal of Pediatrics最新文献

{"title":"Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.","authors":"Mei-Jiao Zhang, De Wu, Li-Fei Yu, Hua Li, Dan Sun, Jian-Min Liang, Xiao-Peng Lu, Rong Luo, Qing-Hui Guo, Rui-Feng Jin, Hong-Wei Zhang, Ge-Fei Lei, Ruo-Peng Sun, Man Wang, You-Feng Zhou, Ying-Yan Wang, Ji-Hong Tang, Ying Hua, Xu-Lai Shi, Xiao-Ming Liu, Xiu-Yu Shi, Guang Yang, Hua Wang, Feng Gao, Tian-Ming Jia, Ji-Wen Wang, Jian-Xiang Liao, Xin-Hua Bao","doi":"10.1007/s12519-024-00864-5","DOIUrl":"10.1007/s12519-024-00864-5","url":null,"abstract":"<p><strong>Background: </strong>Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis. However, due to its rarity, Glut1DS is susceptible to misdiagnosis or missed diagnosis, which can lead to delayed treatment and irreversible dysfunction of the central nervous system. To promote diagnostic awareness and effective treatments, the recommendations for diagnosis and treatment have been developed.</p><p><strong>Methods: </strong>The panel on Glut1DS included 28 participants from the members of the Ketogenic Diet Professional Committee of the Chinese Epilepsy Association and Chinese experts with extensive experience in managing Glut1DS. All authors extensively reviewed the literature, and the survey results were discussed in detail over several online meetings. Following multiple deliberative sessions, all participants approved the final manuscript for submission.</p><p><strong>Results: </strong>Early diagnosis and timely treatment of Glut1DS are crucial for improving prognosis. Physicians should be alert to suspiction of this disease if the following clinical manifestations appear: seizures, episodic or persistent movement disorders (often triggered by fasting, fatigue, or exercise), delayed motor and cognitive development. Characteristic clinical presentations may include seizures combined with movement disorders, episodic eye-head movements, and paroxysmal exercise-induced dyskinesia (PED). In these cases, genetic testing should be promptly completed, and a lumbar puncture should be performed if necessary. The ketogenic diet is internationally recognized as the first-line treatment; the earlier it is started, the better the prognosis. It can effectively control seizures and improve motor disorders. Antiepileptic drug treatment is generally ineffective or provides limited symptom improvement before starting the ketogenic diet.</p><p><strong>Conclusion: </strong>The recommendations provide clinicians with a relatively systematic guide for the rapid identification, diagnosis, and timely treatment of Glut1DS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"149-158"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bridging molecular advancements and clinical challenges in pediatric oncology.","authors":"Michaela Kuhlen, Michael C Frühwald","doi":"10.1007/s12519-024-00870-7","DOIUrl":"10.1007/s12519-024-00870-7","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"120-122"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric complex chronic and life-limiting conditions in the Basque public health system: cross-sectional prevalence study.","authors":"Idoya Serrano-Pejenaute, Itziar Astigarraga, Julio López-Bayón, Jesús Sánchez Echaniz, Álvaro Sánchez Pérez","doi":"10.1007/s12519-025-00879-6","DOIUrl":"10.1007/s12519-025-00879-6","url":null,"abstract":"<p><strong>Background: </strong>The survival of children and adolescents with complex chronic conditions (CCCs) and/or life-limiting or life-threatening conditions (LLCs) is increasing, while estimating their prevalence is complex and limited. This study aims to describe the prevalence of CCCs and/or LLC in children and adolescents and their profile in a European public health system.</p><p><strong>Methods: </strong>This was a descriptive cross-sectional study of the whole pediatric population (< 19 years) registered in the Basque Public Health System (BPHS) in May 2022. Sociodemographic data and active diagnoses were extracted from the electronic medical records. The Pediatric Medical Complexity Algorithm v3.2 was used to identify children and adolescents with CCC and the Hain Directory of Life-Limiting Conditions, modified ad hoc for patients with LLC.</p><p><strong>Results: </strong>A total of 377,349 children and adolescents were detected in the BPHS. The prevalence of children and adolescents with CCC was 681 per 10,000. It was higher in males and increased progressively with age. The most affected systems were neurological (39.9%), respiratory (37.2%), mental health (28.1%), musculoskeletal (20.7%) and metabolic (19.7%) systems. The prevalence of children and adolescents with LLC was 90.7 per 10,000. It was the highest in children under one year of age and was slightly higher among males. The most common conditions were congenital malformations and chromosomal anomalies (37.7%), oncological (18.3%), neurological (16.1%) and metabolic diseases (6.5%). Among children and adolescents with LLC, 72% also had CCC. The prevalence of LCC and/or CCC was greater in children and adolescent patients with lower socioeconomic status.</p><p><strong>Conclusions: </strong>The prevalence of CCC and/or LLC in children with BPHS was high. A considerable proportion of children with LLC also met the criteria for CCC. These findings may help allocate available healthcare resources equitably and efficiently to provide comprehensive care for patients and their families.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"174-182"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent pediatric eosinophilic esophagitis and inflammatory bowel disease: a longitudinal single center case‒control study and literature review.","authors":"Alexandra S Hudson, Michael Pickens, Dale Lee, Kendra L Francis, David L Suskind, Ghassan Wahbeh, Hengqi Betty Zheng","doi":"10.1007/s12519-025-00882-x","DOIUrl":"10.1007/s12519-025-00882-x","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"199-207"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global burden of heart failure in children and adolescents from 1990 to 2019: an analysis from the Global Burden of Disease Study 2019.","authors":"Zi-Hao Lai, Ze-Ye Liu, Jing Xie, Wei Xu, Xian-Chao Jiang, Yang Yang, Chen He, Yi Shi, Xiao-Han Fan, Xiao-Fei Li","doi":"10.1007/s12519-024-00868-1","DOIUrl":"10.1007/s12519-024-00868-1","url":null,"abstract":"<p><strong>Background: </strong>Heart failure (HF) significantly impacts the cardiovascular health of children and adolescents. This study aims to assess epidemiologic trends in HF across sex, age, region, and time period.</p><p><strong>Methods: </strong>The number and age-standardized rate (ASR) of prevalence and years lived with disability (YLDs) were derived from the Global Burden of Disease Study 2019. We applied descriptive estimates, correlation analysis, and joinpoint linear regression to determine the trends in HF burden and its etiologies across different dimensions.</p><p><strong>Results: </strong>Globally, the number of children and adolescent HF patients exceeded 640,000 in 2019. A positive association was found between sociodemographic index (SDI) levels and HF burden, with higher SDI regions showing the greatest impact, especially in the 15-19-year-old group. The prevalence declined from 57.86 per 100,000 in 1990 to 56.17 in 2019, and YLDs decreased from 5.35 to 5.20 per 100,000 over the same period. Temporal burden trends varied among different SDI regions in the first two decades. Overall, children under 10 years old suffered a heavier burden and presented a more evident increasing trend compared to those aged 10-19 years. Males had a more severe HF burden than females across most regions, age groups, and underlying diseases. When exploring HF-related causes, congenital birth defects, cardiomyopathy and myocarditis were the most common etiologies of cardiac dysfunction.</p><p><strong>Conclusion: </strong>Prompt and effective implementation of preventive and management policies worldwide among children and adolescents aged 0-19 years is a top priority to help curb the increasing burden of HF.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"90-99"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental coordination disorder and epilepsy.","authors":"Maria Esposito, Rosangela Santomauro, Giovanni Battista Dell'Isola, Maria Ruberto, Alberto Verrotti, Margherita Siciliano, Marco Carotenuto","doi":"10.1007/s12519-024-00869-0","DOIUrl":"10.1007/s12519-024-00869-0","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignant vasovagal syncope in children.","authors":"Wen-Rui Xu, Hong-Fang Jin, Jun-Bao Du, Ying Liao","doi":"10.1007/s12519-024-00867-2","DOIUrl":"10.1007/s12519-024-00867-2","url":null,"abstract":"<p><strong>Background: </strong>Malignant vasovagal syncope (VVS) is a unique form of cardioinhibitory VVS, characterized by prolonged asystole. To deepen the understanding of this distinct type of VVS in children, this article reviews advancements in the potential pathogenesis, diagnostic approaches, clinical significance, and treatment controversies of malignant VVS in pediatric patients.</p><p><strong>Data sources: </strong>This article was developed by reviewing the literature and studies in databases including PubMed and Chinese Journal Full-text Database up to September 2024. Search terms included \"malignant vasovagal syncope\" AND \"children\" or \"vasovagal syncope\" AND \"asystole\" AND \"children\".</p><p><strong>Results: </strong>To date, studies focused on malignant VVS in children remain limited. Theoretically, children with malignant VVS are at risk of physical or mental impairment due to this cardiac asystole, though no definite conclusions have been reached. The mechanism underlying the significant cardiac inhibition in malignant VVS remains unclear, and the treatment strategy of malignant VVS is debatable.</p><p><strong>Conclusions: </strong>The understanding of children with malignant VVS is insufficient. Further research is required to evaluate the clinical features and the pathogenesis of pediatric VVS with cardiac asystole and to establish effective management strategies for malignant VVS. Video Abstract.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"41-47"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Next-generation pediatric care: nanotechnology-based and AI-driven solutions for cardiovascular, respiratory, and gastrointestinal disorders.","authors":"Waldenice de Alencar Morais Lima, Jackson G de Souza, Fátima García-Villén, Julia Lira Loureiro, Fernanda Nervo Raffin, Marcelo A C Fernandes, Eliana B Souto, Patricia Severino, Raquel de M Barbosa","doi":"10.1007/s12519-024-00834-x","DOIUrl":"10.1007/s12519-024-00834-x","url":null,"abstract":"<p><strong>Background: </strong>Global pediatric healthcare reveals significant morbidity and mortality rates linked to respiratory, cardiac, and gastrointestinal disorders in children and newborns, mostly due to the complexity of therapeutic management in pediatrics and neonatology, owing to the lack of suitable dosage forms for these patients, often rendering them \"therapeutic orphans\". The development and application of pediatric drug formulations encounter numerous challenges, including physiological heterogeneity within age groups, limited profitability for the pharmaceutical industry, and ethical and clinical constraints. Many drugs are used unlicensed or off-label, posing a high risk of toxicity and reduced efficacy. Despite these circumstances, some regulatory changes are being performed, thus thrusting research innovation in this field.</p><p><strong>Data sources: </strong>Up-to-date peer-reviewed journal articles, books, government and institutional reports, data repositories and databases were used as main data sources.</p><p><strong>Results: </strong>Among the main strategies proposed to address the current pediatric care situation, nanotechnology is specially promising for pediatric respiratory diseases since they offer a non-invasive, versatile, tunable, site-specific drug release. Tissue engineering is in the spotlight as strategy to address pediatric cardiac diseases, together with theragnostic systems. The integration of nanotechnology and theragnostic stands poised to refine and propel nanomedicine approaches, ushering in an era of innovative and personalized drug delivery for pediatric patients. Finally, the intersection of drug repurposing and artificial intelligence tools in pediatric healthcare holds great potential. This promises not only to enhance efficiency in drug development in general, but also in the pediatric field, hopefully boosting clinical trials for this population.</p><p><strong>Conclusions: </strong>Despite the long road ahead, the deepening of nanotechnology, the evolution of tissue engineering, and the combination of traditional techniques with artificial intelligence are the most recently reported strategies in the specific field of pediatric therapeutics.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"8-28"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remote home weight monitoring and office visits in newborns: a pilot randomized controlled trial.","authors":"Anirudha Das, Chionye Ossai, Nikita Akkala, Colleen C Schelzig, Wadie Shabab, Kimberly Churbock, Kari Gali","doi":"10.1007/s12519-024-00871-6","DOIUrl":"10.1007/s12519-024-00871-6","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"113-116"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness and safety of biosimilars in pediatric inflammatory bowel diseases: an observational longitudinal study on the French National Health Data System.","authors":"Hugo Jourdain, Léa Hoisnard, Emilie Sbidian, Mahmoud Zureik","doi":"10.1007/s12519-024-00873-4","DOIUrl":"10.1007/s12519-024-00873-4","url":null,"abstract":"<p><strong>Background: </strong>Data on biosimilar use in pediatric inflammatory bowel diseases (IBD) are scarce compared to the status of studies in adults, resulting in limitations in its treatment. We compared effectiveness and safety of biosimilars versus originators in this population.</p><p><strong>Methods: </strong>We used data from the French National Health Data System to identify children (less than 18 years old at treatment initiation) initiating treatment with a biosimilar or the originator infliximab or adalimumab for Crohn's disease (CD) or ulcerative colitis (UC), from first biosimilar launch (January 2015 and October 2018, respectively) to 31 December 2022. Patients' follow-up went until 30 June 2023. We compared the risks of treatment failure and overnight hospitalization in biosimilar versus originator new users using inverse harzard ratio (HR) of probability of treatment weighted Cox regressions (IPTW).</p><p><strong>Results: </strong>We included 5870 patients (infliximab: n = 3491; adalimumab: n = 2379) in the study. Biosimilars represented, respectively, 76.0% (n = 2652) and 29.0% (n = 691) of infliximab and adalimumab initiations. CD represented 70.9% (n = 2476) and 69.0% (n = 1642) of infliximab and adalimumab initiations. Biosimilar use was not associated with increased risks of treatment failure [IPTW HR (95% confidence interval, CI): infliximab 0.92 (0.78-1.09) in CD, 0.98 (0.76-1.27) in UC; adalimumab 0.98 (0.85-1.14) in CD, 1.01 (0.82-1.24) in UC]. Occurrence of all-cause hospitalization was not different between exposure groups [IPTW HR (95% CI): infliximab 0.96 (0.78-1.18); adalimumab 1.03 (0.80-1.33)]. No difference in occurrence of serious infections, mainly gastro-intestinal or dermatological, was found.</p><p><strong>Conclusion: </strong>We provide reassuring results on the use, effectiveness and safety of biosimilars in a large unselected pediatric population suffering from IBD.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"62-72"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}