Translational pediatrics最新文献

{"title":"Metabolomics and lipidomics in pectus excavatum: preliminary screening of biomarkers for early diagnosis.","authors":"Guangxi Wang, Wanhong Huang, Wei Liu, Yuanxiang Wang, Xiaoqiong Gu, Di Che, Yan Jin, Yuxin Yin, Hui Wang","doi":"10.21037/tp-24-288","DOIUrl":"https://doi.org/10.21037/tp-24-288","url":null,"abstract":"<p><strong>Background: </strong>Pectus excavatum (PE) is the most common chest wall deformity, characterized by an insidious onset, gradual progression, and challenges in early diagnosis. It is often accompanied by emaciation and distinctive metabolic traits, which may provide valuable insights into its internal physiological and biochemical mechanisms. Our study attempted to screen out biomarkers by identifying the metabolic characteristics of PE, and the results provide a scientific basis for the early diagnosis of PE.</p><p><strong>Methods: </strong>Untargeted metabolomic and lipidomic analyses using liquid chromatography-mass spectrometry was conducted on serum samples obtained from 20 patients diagnosed with PE and 30 healthy case-controls. Principal component analysis and partial least squares discriminant analysis were employed to assess the quality of the metabolic profiling and delineate the metabolic differences between the PE and healthy cohorts. Receiver operating characteristic analysis was conducted to evaluate the predictive accuracy of the selected biomarkers. Pathway analysis of the dysregulated metabolites was utilized to elucidate the underlying pathological pathways.</p><p><strong>Results: </strong>Fourteen metabolites and seven lipids were found to be differentially expressed between patients with PE and healthy controls. Indole-3-acetaldehyde showed potential as a biomarker for PE, with an area under the curve value of 0.94, making it effective in distinguishing patients with PE. Pathway analysis revealed enrichment of several pathological pathways, such as valine, leucine, and isoleucine biosynthesis; sphingolipid metabolism; glycine, serine, and threonine metabolism; and glycerophospholipid metabolism.</p><p><strong>Conclusions: </strong>In our study, we employed a multiomics approach to comprehensively examine dysregulated serological molecules in PE patients, and the analyses revealed potential biomarkers for early diagnosis and provided information for pathological studies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1777-1788"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical technique: placement of a totally implantable venous access port (TIVAP) through a cephalic vein cutdown in pediatric patients.","authors":"Javier Arredondo Montero","doi":"10.21037/tp-24-305","DOIUrl":"https://doi.org/10.21037/tp-24-305","url":null,"abstract":"<p><p>The placement of totally implantable venous access ports (TIVAPs) is a critical step in the overall care of pediatric oncohematologic patients. These devices constitute a significant technical challenge and are not free of complications during their placement and use. There is extensive literature concerning placement techniques, including venous cut-down (mainly from the external jugular vein) and venous access through ultrasound-guided puncture (Seldinger technique), usually performed in jugular or subclavian veins. Considering that in chronic patients, especially oncology patients, the preservation of quality central venous accesses is essential, alternatives for peripherally inserted central venous catheters have been proposed. The cephalic vein is a peripheral accessory vein located at the deltopectoral groove and characterized by well-defined surgical landmarks. Although scarce and focused on adult populations, the preceding literature concerning using the cephalic vein for TIVAP placement shows promising results. In this manuscript, I present my experience using this technique in pediatric populations, detailing the necessary preoperative preparation to perform the procedure safely, the technical aspects of its implantation, and the most relevant postoperative considerations. Critical knowledge gaps concerning this technique that warrant further study, such as the role of ultrasound as a predictor of success for cephalic vein cut-down TIVAP placement in pediatric populations, are also discussed.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1820-1827"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Segmental chromosome aberrations as a prognostic factor of neuroblastoma: a meta-analysis and systematic review.","authors":"Jianlei Geng, Xiaoyu Wang, Libo Zhao, Jianxiao Zhang, Huizhong Niu","doi":"10.21037/tp-24-200","DOIUrl":"https://doi.org/10.21037/tp-24-200","url":null,"abstract":"<p><strong>Background: </strong>Segmental chromosome aberrations, defined as presence of aberrations, deletion, or imbalance in the chromosomal arms, have long been considered as a predictor of poor prognosis of patients with neuroblastoma. The objective of this meta-analysis is to quantitively analyze the hazard ratios (HRs) of different whole or segmental chromosome aberrations for overall survival (OS) rate or event-free survival (EFS) rate of patients with neuroblastoma.</p><p><strong>Methods: </strong>Relevant studies about chromosome, neuroblastoma, predictor, prognosis, and survival published from the inception to April 2023 in the databases of PubMed, Embase, and Web of Science were searched, screened, and reviewed. The risk of bias of included articles was assessed using the Quality In Prognosis Studies tool. Basic characteristics, HRs of long term (>3 years) EFS and OS with 95% confidence intervals (CIs) of included articles were extracted. A random effects model of DerSimonian-Laird was used to analyze the extracted HRs. For studies that did not report HRs, narrative synthesis was used for summarization.</p><p><strong>Results: </strong>There were 34 (including 14,356 patients) in 844 searched studies finally included for narrative and quantitative analysis. There were 24 articles rated as low risk of bias and 10 articles rated as moderate. Although the results were inconsistent, the pooled effect of HR for <i>1p</i> loss was 4.46 (1.88-10.59) for EFS and 2.29 (1.26-4.15) for OS; the pooled effect of HR for <i>17q</i> gain was 4.81 (3.29-7.04) for EFS and 3.98 (2.11-7.54) for OS; the pooled effect of HR for <i>11q</i> loss was 2.54 (2.32-3.73) for OS. Results of <i>1p36</i> loss, <i>1p22</i> loss, <i>11q23</i> loss, <i>11q13</i>-<i>q14</i> gain, <i>1q</i> gain, <i>1q22</i> gain, <i>2p</i> gain, <i>3p</i> loss, <i>4p</i> loss, <i>14q</i> loss, <i>14q32</i> loss, and other segmental chromosome aberrations were also summarized.</p><p><strong>Conclusions: </strong><i>1p</i> loss, <i>11q</i> loss, and <i>17q</i> gain were identified as significant independent predictors for long-term OS and EFS of patients with neuroblastoma.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1789-1798"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of growth hormone to spinal growth and recombinant human growth hormone to scoliosis.","authors":"Cheng Luo, Shuping Liu, Yanyan Li, Qiong Wu, Qing Liu, Danxia Peng, Shu Han, Xuan Xu, Jie Wen","doi":"10.21037/tp-24-180","DOIUrl":"https://doi.org/10.21037/tp-24-180","url":null,"abstract":"<p><p>Growth hormone (GH) plays a key role in human growth and development. In addition to promoting height growth, GH affects bone metabolism, bone size, and bone mineral density (BMD) in children and adolescents by affecting bone formation and resorption. Among them, the effect of GH on spinal growth has been widely concerned. Scoliosis is a three-dimensional structural spinal deformity characterized by lateral curvature of one or more segments of the spine accompanied by vertebral rotation and sagittal imbalance. For children with growth hormone deficiency (GHD), whether GH supplementation leads to scoliosis is still controversial. In recent years, numerous scholars have conducted extensive research to investigate the correlation between recombinant human GH replacement therapy and scoliosis, yielding divergent findings with some even presenting contradictory results. This study aims to investigate the impact of GH on spinal growth and explore the association between recombinant human GH replacement therapy and scoliosis by comprehensively reviewing the effects of GH and insulin-like growth factors 1 (IGF-1) on bone metabolism, bone mass, as well as examining the consequences of GHD on bone health. Additionally, we aim to access the influence of recombinant human GH replacement therapy on adolescent idiopathic scoliosis (AIS).</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1849-1857"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142636103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevention of respiratory syncytial virus from 1991 to 2024: a systematic review and bibliometrics analysis.","authors":"Xue Li, Xia Yu, Zixi Du, Ling Zhang, Yeyuan Wang, Ying Wu, Yonghong Lin, Yulei He","doi":"10.21037/tp-24-271","DOIUrl":"https://doi.org/10.21037/tp-24-271","url":null,"abstract":"<p><strong>Background: </strong>Respiratory syncytial virus (RSV) puts children and elderly individuals worldwide at risk for severe health issues and financial difficulties. Prevention is the main treatment for RSV infection, as there is currently no particular therapy. By using bibliometrics analysis, this study attempted to map the increasing tendency in the prevention of RSV infection from January 1991 to August 2024 and to examine the frontiers and hotspots of related research.</p><p><strong>Methods: </strong>We extracted pertinent articles through the Web of Science Core Collection (WoSCC) on August 26, 2024, covering the period between January 1991 and August 2024. Then, an online bibliometrix interface (https://bibliometrics.com), R software (version 4.3.2), CiteSpace V6.1R6 (64-bit) software, and the Online Analysis Platform of Literature Metrology were used to analyze the data.</p><p><strong>Results: </strong>A total of 709 eligible data points pertaining to the prevention of RSV were included. The United States, England, and the Netherlands were the three major contributors to this field. The most productive journal was <i>Vaccine</i>. Centers for Disease Control and Prevention ranked first, with 22 publications in this field. The fusion (F) protein, nonstructural (NS) protein and glycoprotein (G) protein are the target proteins of RSV prevention drugs.</p><p><strong>Conclusions: </strong>In the past 30 years, the research on RSV prevention has entered a stage of rapid development, and many vaccines and monoclonal antibodies have entered the clinical research stage, and some have been marketed.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1858-1869"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etiologic and demographic characteristics of syncope in children and adolescents: a nationwide population-based study in Korea.","authors":"Eu Gene Park, Tae-Hoon Eom, Ji Yoon Han, Joong Hyun Bin, Jin-Hee Oh, Young-Hoon Kim, Il Han Yoo","doi":"10.21037/tp-24-252","DOIUrl":"https://doi.org/10.21037/tp-24-252","url":null,"abstract":"<p><strong>Background: </strong>Syncope is common among children and adolescents. Although it is most commonly caused by vasovagal syncope, it can also be due to undiagnosed, potentially serious, or even life-threatening conditions. We aimed to investigate the distribution of subsequent sinister diagnoses, such as heart disease (HD) and epilepsy, and analyze their demographic characteristics in children presenting with syncope.</p><p><strong>Methods: </strong>This nationwide, population-based study was conducted using the Korean Health Insurance Review and Assessment Service database. Patients aged <19 years at the time of their first visit between January 2010 and December 2014, who had primary, secondary, or additional diagnostic codes for syncope, were selected and followed up for a minimum of 5 years from the index date to investigate subsequent diagnoses of HD or epilepsy. Patient demographics, diagnostic codes, and prescriptions were retrieved from the database.</p><p><strong>Results: </strong>A total of 75,839 patients with new-onset syncope were identified, of which 239 (0.3%) and 2,516 (3.3%) were subsequently diagnosed with HD and epilepsy, respectively. In the infant, toddler, and preschool age groups, the proportions of patients with subsequent diagnoses of HD and epilepsy were relatively lower (5/5,353, 0.1%) and higher (206/5,353, 3.8%), respectively, than the proportions in the other age groups. A male preponderance was noted for patients with syncope who were later diagnosed with HD or epilepsy (P<0.001). The proportion of patients experiencing syncope with a subsequent diagnosis of HD was relatively high in the summer.</p><p><strong>Conclusions: </strong>The subsequent diagnosis of potentially life-threatening diseases in pediatric syncope, including HD and epilepsy, is relatively low in all age groups. In addition to comprehensive history taking and physical examination, demographic data such as age and sex, and season of occurrence, can aid in diagnosing the underlying cause of pediatric syncope by helping to identify patients who may require further investigations.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1737-1746"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clipping of a ruptured cerebral aneurysm in a toddler: a case report and review of aneurysmal treatment in children.","authors":"George W Koutsouras, Richmond Mensah, Satish Krishnamurthy","doi":"10.21037/tp-24-289","DOIUrl":"https://doi.org/10.21037/tp-24-289","url":null,"abstract":"<p><strong>Background: </strong>Pediatric intracranial aneurysms account for 5% of all aneurysms and less than 10% of all aneurysms cause non-traumatic intracranial hemorrhage in children. They are most commonly secondary to trauma, infection, or genetic etiologies; however, case reports have described iatrogenic intracranial aneurysms. We describe a case of a ruptured aneurysm with an associated intracranial hematoma that was treated by surgical clipping and clot evacuation.</p><p><strong>Case description: </strong>The patient was a 15-month-old boy without a history of trauma or infection, who developed acute-onset nausea and subsequent neurological deterioration and status epilepticus. Imaging demonstrated a 13-mm saccular anterior cerebral artery aneurysm with accompanying large left frontal intraparenchymal hematoma and intraventricular hemorrhage. He was treated with urgent craniotomy for surgical clipping and clot evacuation. An external ventricular drain was placed to treat the hydrocephalus. The patient subsequently received a ventriculoperitoneal shunt with rehabilitation disposition. There was a family history of intracranial aneurysms and cavernous malformations; however, genetic testing was negative. One year later, he is developing his speech and has ambulated independently.</p><p><strong>Conclusions: </strong>We highlight the importance of expeditious care in toddlers with rapidly deteriorating neurological examination results and associated intracranial findings. We demonstrate the rarity of intracranial aneurysms in a toddler and the need for further study on this topic, as there is no clear etiology for this finding in this patient.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1885-1891"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142627886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An exceptionally large wave of <i>M. pneumoniae</i> infections among children in Tianjin post COVID-19 pandemic.","authors":"Dongsha Shi, Xiaozhuo Yu, Juping Sun, Huijing Luo, Yanv Ren, Zuoliang Dong","doi":"10.21037/tp-24-228","DOIUrl":"https://doi.org/10.21037/tp-24-228","url":null,"abstract":"<p><strong>Background: </strong>The coronavirus disease 2019 (COVID-19) pandemic has caused a persistent lowering of <i>Mycoplasma pneumoniae</i> (<i>M. pneumoniae</i>), which is commonly found in children with respiratory tract infections (RTIs). However, in 2023, we observed an unusually high number of <i>M. pneumoniae</i> infections among children from Tianjin, the second largest city in northern China. This study sought to analyze the epidemiological characteristics of children with RTIs caused by <i>M. pneumoniae</i> in northern China post COVID-19, in order to provide a theoretical basis for clinical diagnosis and treatment.</p><p><strong>Methods: </strong>Between January 2019 and December 2023, a total of 78,886 children with respiratory infections from General Hospital of Tianjin Medical University were included in this study. A rapid immunochromatographic assay kit was used to test for <i>M. pneumoniae</i> specific immunoglobulin M (IgM) in these patients. The relevant clinical data of <i>M. pneumoniae</i>-positive cases were also collected, and analyzed by SPSS software.</p><p><strong>Results: </strong>Out of the 78,886 samples collected, a total of 11,268 tested positive for <i>M. pneumoniae</i> specific-IgM antibody. The average positive rate was 14.3% in the past 5 years. In the year 2023 alone, there were 5,870 <i>M. Pneumoniae</i> positive cases, surpassing the combined count from the previous 4 years. The incidence of <i>M. pneumoniae</i> had significantly surged since September 2023, peaking at 1,717 cases in November 2023, with a notable surge during the fourth quarter. The prevalence of <i>M. pneumoniae</i> infection was primarily observed among children aged 4-6 years and 7-9 years both before and during the COVID-19 pandemic; however, a noticeable increase was observed among children aged 10-14 years after the pandemic ended. Boys exhibited a lower positive rate (13.19%) compared to girls (15.56%). In addition, the proportion of pneumonia cases in 2023 was significantly higher than that in previous years (P<0.001).</p><p><strong>Conclusions: </strong>Our study revealed that following a prolonged global lowering of <i>M. pneumoniae</i> since the COVID-19 pandemic, a significant outbreak had emerged in northern China since September 2023. The proportion of <i>M. pneumoniae</i> positive children in the older age group increased in 2023 compared to that observed in 2019. Additionally, there was an increase in the proportion of pneumonia among <i>M. pneumoniae</i> positive cases in 2023 compared to the pre-COVID-19 pandemic period.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1703-1710"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142627483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline mismatch repair gene mutations in children with tumors: a case series from two centers.","authors":"Chun-Yu Li, Anthony Pak-Yin Liu, Shu Mo, Peter C Ambe, Jian-Liang Chen, Godfrey Chi-Fung Chan","doi":"10.21037/tp-24-343","DOIUrl":"https://doi.org/10.21037/tp-24-343","url":null,"abstract":"<p><strong>Background: </strong>Mismatch repair (MMR) deficiency can lead to constitutional mismatch repair deficiency (CMMRD) syndrome and Lynch syndrome (LS). These two genetic disorders are associated with a broad spectrum of tumor types, including a variety of brain tumors. Usually, tumors associated with LS are more common in adults and rarely occur in children. The characterizations of café-au-lait macules (CALMs) are relatively similar in CMMRD syndrome and neurofibromatosis type 1 (<i>NF1</i>), which often causes difficulties in the diagnosis of CMMRD syndrome.</p><p><strong>Case description: </strong>We identified five patients with MMR gene germline mutations and tumors from the University of Hong Kong - Shenzhen Hospital (four cases) and Hong Kong Children's Hospital (one case) within a 2-year period (June 2021 to June 2023). The clinical features of these patients were reviewed and compared with those detailed in the literature. Of the four patients with CMMRD syndrome, two had medulloblastomas, one had low-grade glioma, and one had desmoid fibromatosis. The only LS patient was diagnosed with medulloblastoma at the age of 10. In terms of the gene mutations of the CMMRD syndrome patients, two had the <i>MSH6</i> mutation (one of whom had the <i>de novo</i> mutation), one patient had the <i>MLH1</i> mutation, and no known genetic mutation was detected in the other patient. The LS patient had the <i>MSH2</i> mutation. Three of the four CMMRD syndrome (75%) patients and the one LS patient had a positive family history of malignancy. Currently, the origin and mechanism of <i>de novo</i> mutations in the MMR gene that cause CMMRD syndrome and LS remain elusive. In this study, all the four CMMRD syndrome patients had CALMs since birth, but no further follow up or clinical surveillance was performed until their tumors developed. We summarized several CALM-related genetic syndromes and highlighted their differences in terms of the clinical features. This could facilitate the differentiation of the different types of CALM-associated hereditary syndromes and help to reduce delays in diagnosis.</p><p><strong>Conclusions: </strong>More than half of CMMRD syndrome and LS patients have no family history of cancer; thus, the absence of a positive family history does not rule out CMMRD syndrome and LS. A better diagnostic approach is to perform genetic testing to rule out the risk as early as possible when a newborn presents with cafe-au-lait spots, which are a typical feature of hereditary syndromes. Therefore, it is important to use germline genetic testing, combined with clinical phenotypic observation, to establish a diagnosis of a cancer susceptibility syndrome caused by an MMR gene mutation.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 10","pages":"1810-1819"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Radiomics with structural magnetic resonance imaging, surface morphometry features, neurology scales, and clinical metrics to evaluate the neurodevelopment of preschool children with corrected tetralogy of Fallot.","authors":"Feng Yang, Jingjing Zhong, Peng Liu, Wei Yu, Yuting Liu, Meijiao Zhu, Ming Yang, Xuming Mo","doi":"10.21037/tp-24-219","DOIUrl":"https://doi.org/10.21037/tp-24-219","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Despite the improved survival rates of children with tetralogy of Fallot (TOF), various degrees of neurodevelopmental disorders persist. Currently, there is a lack of quantitative and objective imaging markers to assess the neurodevelopment of individuals with TOF. This study aimed to noninvasively examine potential quantitative imaging markers of TOF neurodevelopment by combining radiomics signatures and morphological features and to further clarify the relationship between imaging markers and clinical neurodevelopment metrics.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This study included 33 preschool children who had undergone surgical correction for TOF and 29 healthy controls (36 in the training cohort and 26 in the testing cohort), all of whom underwent three-dimensional T1-weighted high-resolution (T1-3D) head magnetic resonance imaging (MRI). Radiomics features were extracted by Pyradiomics to construct radiomics models, while surface morphometry (surface and volumetric) features were analyzed to build morphometry models. Merged models integrating radiomics and morphometry features were subsequently developed. The optimal discriminative radiomics signatures were identified via least absolute shrinkage and selection operator (LASSO). Machine learning classification models include support vector machine (SVM) with radial basis function (RBF) and multivariable logistic regression (MLR) models, both of which were used to evaluate the potential imaging biomarkers. Performances of models were evaluated based on their calibration and classification metrics. The area under the receiver operating characteristic curves (AUCs) of the models were evaluated using the Delong test. Neurodevelopmental assessments for children with corrected TOF were conducted with the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV). Furthermore, the correlation of the significant discriminative indicators with clinical metrics and neurodevelopmental scales was evaluated.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Twelve discriminative radiomics signatures, optimized for classification, were identified. The performance of the merged model (AUCs of 0.922 and 0.917 for the training set and test set with SVM, respectively) was superior to that of the single radiomics model (AUCs of 0.915 and 0.917 for the training set and test set with SVM, respectively) and that of the single morphometric models (AUCs of 0.803 and 0.756 for the training set and test set with SVM, respectively). The radiomics model demonstrated higher significance than did the morphometric models in training set with SVM (AUC: 0.915 &lt;i&gt;vs&lt;/i&gt;. 0.803; P&lt;0.001). Additionally, the significant indicators showed a correlation with clinical indicators and neurodevelopmental scales.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;MRI-based radiomics features combined with morphometry features can provide complementary information to identify neurodevelopmental abnormalities in children ","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 9","pages":"1571-1587"},"PeriodicalIF":1.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11467234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}