Frontiers in Pediatrics最新文献

{"title":"Role of artificial intelligence in pediatric intensive care: a survey of healthcare staff perspectives in Saudi Arabia.","authors":"Khouloud Abdulrhman Al-Sofyani","doi":"10.3389/fped.2025.1533877","DOIUrl":"10.3389/fped.2025.1533877","url":null,"abstract":"<p><strong>Background: </strong>Artificial Intelligence (AI) has the potential to revolutionize Pediatric Intensive Care Units (PICUs) by enhancing diagnostic accuracy, improving patient outcomes, and streamlining routine tasks. However, integrating AI into PICU environments poses significant ethical and data privacy challenges, necessitating effective governance and robust regulatory frameworks to ensure safe and ethical implementation. This study aimed to explore valuable insights into healthcare professionals' current perceptions and readiness to adopt AI in pediatric critical care, highlighting the opportunities and challenges ahead.</p><p><strong>Methods: </strong>A cross-sectional study conducted an online survey among healthcare practitioners at King Abdulaziz University Hospital in Jeddah, Saudi Arabia. The survey included questions about professional roles, experience, and familiarity with AI, their opinions on AI's role, trust in AI-driven decisions, and ethical and privacy concerns. Statistical analyses were performed using IBM SPSS.</p><p><strong>Results: </strong>Results found varying familiarity with AI among healthcare professionals, with many expressing limited knowledge of AI applications in PICU settings. Despite this, there was growing recognition of AI's current applications. Trust in AI-driven decisions for PICU management was mixed, with most expressing partial trust. Opinions on AI's role in enhancing diagnostic accuracy and improving patient outcomes varied. Ethical considerations, data privacy, and effective governance to address regulatory and ethical challenges were highlighted as critical concerns.</p><p><strong>Conclusion: </strong>Healthcare practitioners in the PICU preferred using AI for routine patient monitoring but had concerns about its use in diagnoses and advanced healthcare. Concerns were held regarding data privacy, security breaches, and patient confidentiality.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1533877"},"PeriodicalIF":2.1,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11891184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The influence of genetic polymorphisms on cytokine profiles in pediatric COVID-19: a pilot study.","authors":"Kateryna Kozak, Halyna Pavlyshyn, Oleksandr Kamyshnyi, Oksana Shevchuk, Mykhaylo Korda, Sandor G Vari","doi":"10.3389/fped.2025.1523627","DOIUrl":"10.3389/fped.2025.1523627","url":null,"abstract":"<p><strong>Introduction: </strong>Recent studies have underscored the importance of genetic factors in predicting COVID-19 susceptibility and severity. While cytokine storms are crucial in disease severity, genetic predisposition significantly influences immune responses. Our study examined genes related to SARS-CoV-2 invasion <i>(ACE2 rs2074192</i>) and interferon-induced immunity (<i>IFNAR2 rs2236757, TYK2 rs2304256, OAS1 rs10774671, OAS3 rs10735079</i>). Additionally, we investigated genes linked to Kawasaki disease (<i>CD40 rs4813003, FCGR2A rs1801274, CASP3 rs113420705</i>) that play roles in immunogenesis.</p><p><strong>Methods: </strong>The pilot study, which involved 75 pediatric patients aged one month to 17 years [43 patients with active COVID-19, 17 children with multisystem inflammatory syndrome in children (MIS-C), and 15 healthy controls], was conducted in Ternopil, Ukraine. Gene polymorphism was studied for all patients. ELISA kits were used for interleukin studies, including Human IL-1β (Interleukin 1 Beta), Human IL-6 (Interleukin 6), Human IL-8 (Interleukin 8), Human IL-12 (Interleukin 12), Human IFN-α (Interferon Alpha), and Human TNF-α (Tumor Necrosis Factor Alpha). Statistical analysis was performed using IBM SPSS Statistics 21 and GraphPad Prism 8.4.3.</p><p><strong>Results: </strong>The analysis identified significant gene-cytokine associations in pediatric COVID-19 patients. The <i>ACE2 rs2074192</i> T allele correlated with increased IL-1β, IL-6, IL-8, and TNF-α. The <i>IFNAR2 rs2236757</i> A allele was linked to elevated IL-1β and IL-12 levels and low IFN-α levels, while <i>OAS1 rs10774671</i> A allele carriers also exhibited lower IFN-α levels. <i>OAS1 rs10774671</i> was prognostically crucial for determining IL-8 levels in children infected with SARS-CoV-2. <i>OAS3</i> gene polymorphism <i>rs10735079</i> was associated with changes in IL-6 levels, precisely a high level. The <i>CD40 rs4813003</i> T allele increased IFN-α levels, while carriers of allele C had higher levels of IL-12. The results of our study revealed a correlation between IL-8 levels and the <i>FCGR2A</i> gene polymorphism <i>rs1801274</i> (A/G). The <i>CASP3</i> gene polymorphism <i>rs113420705</i> led to an increase in IL-6.</p><p><strong>Conclusion: </strong>These findings enhance our understanding of pediatric COVID-19 and may hold promise for developing targeted interventions and providing a personalized medical approach for each patient.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1523627"},"PeriodicalIF":2.1,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11891370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early caffeine therapy decreases bronchopulmonary dysplasia but might increase mortality in preterm infants? a systematic review and meta-analysis.","authors":"Juan Ma, Long Chen, Kaihong Mu, Shifang Tang, Yuan Shi","doi":"10.3389/fped.2025.1528054","DOIUrl":"10.3389/fped.2025.1528054","url":null,"abstract":"<p><strong>Objectives: </strong>To assess the effectiveness of early vs. late caffeine therapy for bronchopulmonary dysplasia (BPD) in infants.</p><p><strong>Methods: </strong>PubMed, Embase, Web of Science, and Cochrane databases were searched up to October 2024. Studies comparing early and late caffeine therapy for BPD in infants were included. The primary outcomes were the incidence of BPD, severe BPD, and mortality.</p><p><strong>Results: </strong>Eleven studies (1 RCT and 10 cohorts) with 64,749 patients (34,175 early and 30,574 late) were included. Meta-analysis revealed a significantly lower incidence of BPD (OR: 0.67; 95% CI: 0.56, 0.79; <i>P</i> < 0.00001) but higher mortality (OR: 1.20; 95% CI: 1.12, 1.29; <i>P</i> < 0.00001) in the early group. Subgroup analysis showed a significant difference in BPD incidence in retrospective studies (OR: 0.57; 95% CI: 0.44, 0.74; <i>P</i> < 0.0001), but not in prospective studies (OR: 0.84; 95% CI: 0.44, 1.61; <i>P</i> = 0.61). No significant difference was observed in severe BPD incidence (OR: 0.89; 95% CI: 0.34, 2.35; <i>P</i> = 0.81).</p><p><strong>Conclusions: </strong>Early caffeine therapy may reduce BPD incidence but increase mortality risk in infants. More large-scale, prospective studies are needed to further evaluate the efficacy of early vs. late caffeine therapy for BPD.</p><p><strong>Systematic review registration: </strong>https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=474351, PROSPERO (CRD42023474351).</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1528054"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of liver transplantation of hepatoblastoma: single-center data in mainland China.","authors":"Hongting Huang, Linman Li, Jianjun Zhu, Dongwei Xu, Ping Wan, Bijun Qiu, Jiaxu Zhang, Yongkang Yang, Jie Zhao, Jianjun Zhang, Yi Luo, Mingxuan Feng, Qiang Xia","doi":"10.3389/fped.2025.1502761","DOIUrl":"10.3389/fped.2025.1502761","url":null,"abstract":"<p><strong>Objective: </strong>HB is the most common liver malignancy in children. Giving the rarity of the research reporting outcomes of LT for HB in China, updated long-term data are needed. The primary objective was to evaluate the outcomes of liver transplantation in HB. The secondary objective was to assess the clinical parameters that influence the outcomes of liver transplantation in HB.</p><p><strong>Methods: </strong>We retrospectively analyzed the dataset of a single-center cohort from RJ-SJTUM. Outcomes were OS and PFS. Cox proportional hazard models were used to estimate mortality adjusted HRs with 95% CIs.</p><p><strong>Results: </strong>RJ-SJTUM has accounted for 68.5% of the total cases in China since 2019. The 5-year PFS and OS rates were 63.6% and 84.6% respectively. AFP ≥13,686.5 ng/ml before LT was an independent risk factor for PFS (<i>P</i> < 0.001), and distal metastasis before LT was an independent risk factor for OS (<i>P</i> = 0.028). All patients received post-LT chemotherapy, and two patients experienced severe liver injury. Patients with localized tumor recurrence after LT had favorable outcomes if radical resection of the recurrence was achieved. Sirolimus played a role in prolonging the survival of patients with recurrent HB after LT (<i>P</i> = 0.0307).</p><p><strong>Conclusion: </strong>LT achieved favorable outcomes for patients with locally advanced hepatoblastoma. This study suggests that a judicious patient selection to exclude patients with high-risk predictors, as well as standardized postoperative management is critical in this process.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1502761"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma NMDAR autoantibody: a new biomarker for the diagnosis of Hirschsprung disease.","authors":"Yulu Lai, Jieting Lu, Yanqing Liu, Jixiao Zeng, Shenwei Huang, Lin Li, Bingtong Wang, Pengfei Wei, Yu Ouyang, Junjian Lv, Wei Zhong, Chaoting Lan, Huimin Xia, Qiuming He","doi":"10.3389/fped.2025.1514323","DOIUrl":"10.3389/fped.2025.1514323","url":null,"abstract":"<p><strong>Introduction: </strong>Hirschsprung Disease (HSCR) is a common congenital intestinal disease in pediatrics. Early diagnosis and treatment after birth alleviate the occurrence of complications. Consequently, we aim to identifiy a biomarker with ease of use, non-invasiveness, and highly accurate for diagnosis.</p><p><strong>Methods: </strong>Plasma samples were collected from HSCR group, other intestinal disease controls (DC) and healthy controls (HC)<b>,</b> while colon samples were collected from HSCR and DC groups. We conducted human neural autoantibody microarray analyses on plasma. The candidate biomarker was further validated using enzyme-linked immunosorbent assay (ELISA) in colon tissue and plasma. The receiver operating characteristic curve (ROC) was used to assess the diagnostic performance of the plasma biomarker.</p><p><strong>Results: </strong>Microarray analysis revealed that the level of plasma N-methyl-D-Aspartate receptor (NMDAR) autoantibody in HSCR group was significantly higher than those in the HC group (<i>p</i> = 0.008). In plasma analyzed cohort, the level of NMDAR autoantibodies in HSCR group (<i>n</i> = 38) were significantly elevated compared to both the HC (<i>n</i> = 31, <i>p</i> < 0.0001) and the DC (<i>n</i> = 20, <i>p</i> < 0.0001). We further validated the diagnostic efficacy of plasma NMDAR autoantibody, it demonstrated AUCs of 0.96 and 0.81 for diagnosing HSCR when compared to HC and DC.</p><p><strong>Conclusions: </strong>Plasma NMDAR autoantibody might be served as an efficient, non-invasive biomarker for diagnosing HSCR.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1514323"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Damaged external limb of montgomery T-tube in a child: a rare complication.","authors":"Ting Wang, Wenjie Wu, Xing Chen, Ling Liu, Huaxu Yin, Bing Xue, Jie Zhang","doi":"10.3389/fped.2025.1462638","DOIUrl":"10.3389/fped.2025.1462638","url":null,"abstract":"<p><p>Montgomery T-tubes (MT) are well tolerated with rare complications. Here, we report an unusual complication of damaged external limb of the MT in a child. Both physicians and patients should be aware of this possible complication, which can lead to potential fracture of the MT, resulting in unusual airway problems requiring emergency management.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1462638"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Imaging characteristics of pediatric primary thymic lymphoepithelioma-like carcinoma: case reports of four children with a literature review.","authors":"Xiao-Dong Zhu, Yuan Fang, Xiao-Yu Wang, Jun Hu, Dong-Hao Gu, Qiong Yao, Zhong-Wei Qiao","doi":"10.3389/fped.2025.1494946","DOIUrl":"10.3389/fped.2025.1494946","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to analyze the imaging characteristics of lymphoepithelioma-like carcinoma (LELC) in children's thymi.</p><p><strong>Methods: </strong>Four pediatric cases of primary thymic LELC confirmed by needle biopsy pathology from our research center were enrolled. All children underwent an enhanced chest computed tomography (CT) examination. In addition, 11 cases of pediatric thymic LELC with CT manifestations reported in the literature over the past 20 years were combined to explore their imaging characteristics.</p><p><strong>Results: </strong>In our research center, there were four cases, all boys, with an average age of 11.25 ± 2.87 years. CT showed a soft tissue mass in the anterior mediastinum in all four cases, with the mass being lobulated or roughly circular and growing laterally. The largest mass had a diameter of 120 mm, with an average of 90 ± 21.6 mm. In three cases, the mass showed cystic necrosis, which enhanced unevenly, and in three cases, small blood vessels were seen traversing the mass. Two cases had an invasion of the pleura and lung with associated pleural effusion. In two cases, vascular reconstruction showed blood supply from branches of the internal thoracic artery, with one case having spinal metastasis. Combined with literature reports of 11 pediatric cases with thymic LELC, a total of 15 cases of thymic LELC were identified: 13 cases were boys, 2 cases were girls, and the average age was 11.2 ± 2.9 years. The largest lesion had a diameter of 160 mm, with an average of 107 ± 27.78 mm. Seven cases had cystic necrosis, 4 cases had calcification, 5 cases did not mention the enhancement method, and the remaining 10 cases showed uneven enhancement. Furthermore, six cases had tumor invasion of adjacent large blood vessels; six cases had pleural effusion; five cases had pleural invasion; six cases had metastasis to the mediastinal, hilar, or axillary lymph nodes cases had pulmonary metastasis; and four cases had bone metastasis.</p><p><strong>Conclusion: </strong>Thymic LELC in children showed a higher incidence in boys. The imaging characteristics of pediatric thymic LELC manifested as a large mass located in the anterior mediastinum, with highly malignant features and metastasis.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1494946"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of CatBoost algorithm to identify the need for surgery in infants with necrotizing enterocolitis.","authors":"Xinyun Jin, Wenqiang Sun, Yihui Li, Yinglin Su, Lingqi Xu, Xueping Zhu","doi":"10.3389/fped.2025.1465278","DOIUrl":"10.3389/fped.2025.1465278","url":null,"abstract":"<p><strong>Background: </strong>Early identification of infants with necrotizing enterocolitis (NEC) at risk of surgery is essential for an effective treatment. This study aims to clarify the risk factors of surgical NEC and establish a prediction model by machine learning algorithm.</p><p><strong>Methods: </strong>Infants with NEC were split into two groups based on whether they had surgery or not. Clinical data was collected and compared between the groups. Variables were analyzed with one-way logistic regression and predictive models were built using logistic regression and CatBoost algorithm. The models were evaluated and compared using Receiver Operating Characteristic (ROC) curves and feature importance. Feature importance was ranked using the SHapley Additive exPlanation method and model optimization was performed using feature culling. Final model was selected and a user-friendly GUI software was created for clinical use.</p><p><strong>Results: </strong>The Catboost model performed better than the logistic regression model in terms of discriminative power. An interpretable final model with 14 features was built after the features were reduced according to the feature importance level. The final model accurately identified Surgicel NEC in the internal validation (AUC = 0.905) and was translated into a convenient tool to facilitate its use in clinical settings.</p><p><strong>Conclusions: </strong>Catboost machine learning model related to infants with surgical NEC was successfully developed. A GUI interface was developed to assist clinicians in accurately identifying children who would benefit from surgery.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1465278"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trend analysis of pediatric urolithiasis prevalence from 1990 to 2021 in the BRICS.","authors":"Zhi-Gang Zhang, Qing-Cheng Lin, Qing-Ying Zhou, Nai-Fen Xu, Ding-Qin Zheng, Qi-Zhuang Pan, Xin-Jun Wang, Ran Xu","doi":"10.3389/fped.2025.1551046","DOIUrl":"10.3389/fped.2025.1551046","url":null,"abstract":"<p><strong>Background: </strong>The increasing epidemiological trend of pediatric urolithiasis over the past three decades has brought it to the forefront of public health attention. An analysis of the disease burden in Brazil, Russia, India, China, and South Africa (BRICS) countries, which share common characteristics such as large population base and limited public health resources, will provide an important reference for global public health policy development. Therefore, this study aimed to investigate the trend of the prevalence of pediatric urolithiasis in BRICS countries during 1990-2021, which in turn will provide more valuable information for them and the world in the prevention and treatment of pediatric urolithiasis.</p><p><strong>Methods: </strong>In this study, data were obtained from the Global Burden of Disease (GBD) database. The data were then statistically analyzed using the Joinpoint regression model, AutoRegressive Integrated Moving Average (ARIMA) prediction model, and subgroup analysis to assess trends in the prevalence of pediatric urolithiasis.</p><p><strong>Result: </strong>Globally, the prevalence has been increasing every year, with the greatest increase in the 10-14 age group. Encouragingly, the Age-Standardized Prevalence Rate (ASPR) has shown a decreasing trend. The disease burden of pediatric urolithiasis is higher in India and Russia, with the prevalence in India and ASPR in Russia being the highest in the BRICS countries. In South Africa, there is a clear deficit in prevention and treatment in the 0-4 year age group. Additionally, although the burden of pediatric urolithiasis in Brazil is not currently severe, the trend is the fastest deteriorating among the BRICS countries. Finally, China has made significant progress in the prevention and control of pediatric urolithiasis over the past 30 years and is expected to continue this positive trend over the next 15 years.</p><p><strong>Conclusion: </strong>This in-depth analysis based on GBD 2021 provides a fresh perspective on the evolving burden of pediatric urolithiasis in BRICS countries over the last three decades. Our research provides valuable insights for policy makers and health care providers through in-depth analysis and scientific evaluation of the prevalence of pediatric urolithiasis using different statistical models. In addition, BRICS countries should develop targeted prevention strategies for at-risk populations and ensure the availability of effective treatments that are tailored to their national contexts while also reflecting global health trends and evidence.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1551046"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.","authors":"Victoria Kononets, Gulmira Zharmakhanova, Saule Balmagambetova, Lyazzat Syrlybayeva, Gulshara Berdesheva, Zhanna Zhussupova, Aidana Tautanova, Yergen Kurmambayev","doi":"10.3389/fped.2025.1463294","DOIUrl":"10.3389/fped.2025.1463294","url":null,"abstract":"<p><p>Tandem mass spectrometry (MS/MS) for detection of inborn errors of metabolism (IEM) is recognized as an ethical, safe, simple, and reliable screening test. Presented bibliometric analysis aims to describe the network structure of the scientific community in the study area at the level of countries, institutions, authors, papers, keywords, and sources; scientific productivity, directions, and collaboration efforts in a considered period (1991-2024, May). Using the PRISMA method, we conducted a systematic search for articles reporting using MS/MS to screen for inherited metabolic disorders and inborn errors of metabolism collected from the Web of Science Core Collection (WoSCC). A total of 677 articles out of 826, by 3,714 authors, published in 245 journals, with 21,193 citations in 11,295 citing articles, with an average citation of 31.3 per article, and an H-index of 69 were retrieved from the WoSCC. The research status of MS/MS in IEM screening was identified. The most relevant current research directions and future areas of interest were revealed: \"selective screening for IEM,\" \"new treatments for IEM,\" \"new disorders considered for MS/MS testing,\" \"ethical issues associated with newborn screening,\" \"new technologies that may be used for newborn screening,\" and \"use of a combination of MS/MS and gene sequencing\".</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1463294"},"PeriodicalIF":2.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}