Translational pediatrics最新文献

{"title":"Development and validation of an explainable machine learning-based prediction model for primary Kawasaki disease complicated with coronary artery aneurysms.","authors":"Zixia Song, Hongjun Ming, Bin Liu, Dong Liu","doi":"10.21037/tp-24-359","DOIUrl":"10.21037/tp-24-359","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease (KD) can lead to coronary artery aneurysms (CAA) in approximately 1 in 5 untreated children despite intravenous immunoglobulin (IVIG) therapy in the acute phase. The aim of this study is to develop and validate an explainable machine learning (ML)-based prediction model for CAA in KD.</p><p><strong>Methods: </strong>This study retrospectively analyzed the clinical data of children diagnosed with primary KD at Nanchong Central Hospital, Sichuan Province between 2015 and 2023. Six models, including support vector machine (SVM), K-nearest neighbors (KNN), least absolute shrinkage and selection operator (Lasso), extreme gradient boosting (XGBoost), random forest (RF), and multilayer perceptron (MLP), based on ML algorithms were developed. The model with optimal performance was validated and the explainable SHapley Additive exPlanations (SHAP) analysis was used.</p><p><strong>Results: </strong>A total of 327 children diagnosed with KD were included in the training set and validation set. Receiver operator characteristic curve analysis showed that XGBoost based model exhibited an optimal performance among the six models. Moreover, for a given CAA positive sample, the sum of the SHAP values of all variables of XGBoost represented the individual deviation from the mean predicted from the entire dataset.</p><p><strong>Conclusions: </strong>The XGBoost algorithm-based explainable model might be used to predict the occurrence of CAA in children with KD.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"208-221"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671162","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":"Mechanical thrombectomy in an 18-month-old infant with acute ischemic stroke with large core infarct and late time window: a case report.","authors":"Bin Zhao, Taining Zhang, Ruifeng Xu, Weikai Wang, Rong Yin","doi":"10.21037/tp-24-463","DOIUrl":"10.21037/tp-24-463","url":null,"abstract":"<p><strong>Background: </strong>Mechanical thrombectomy (MT) is recognized as the most effective treatment for acute cerebral artery occlusion in adults. However, due to the rarity of acute ischemic stroke (AIS) in children and the lack of robust clinical evidence, the benefits of MT for pediatric patients remain uncertain. This case study aims to provide valuable insights into the treatment considerations for pediatric stroke patients and address various intraoperative and postoperative challenges.</p><p><strong>Case description: </strong>In this report, we present a case involving an 18-month-old infant who suffered from a stroke. An emergency head magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) performed approximately 30 hours after onset revealed extensive infarction in the left basal ganglia, temporal and parietal lobes, along with occlusion of the left internal carotid artery and middle cerebral artery. Two hours after the imaging examination, the attending pediatrician noted a decline in muscle strength (grade 0) in the right limb and mild drowsiness. Despite the late time window and large core infarction, a thorough clinical and imaging evaluation indicated the presence of salvageable brain tissue. Following MT and subsequent multidisciplinary management, there was a significant reduction in the final infarct volume, preserving brain function. At a 6-month follow-up, the pediatric modified Rankin Scale (mRS) score improved to 1 point, indicating favorable outcomes.</p><p><strong>Conclusions: </strong>Although our patient has a good prognosis after thrombectomy, surgery should be carefully selected in the face of stroke caused by large vessel occlusion in pediatric patients.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"322-328"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671167","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":"Antimicrobial photodynamic therapy and deproteinization in teeth with molar incisor hypomineralization: a case series.","authors":"Amanda Rafaelly Honório Mandetta, Carolina Carvalho Bortoletto, Ana Paula Taboada Sobral, Thais Gimenez, Caroline Diniz Pagani Vieira Ribeiro, Lara Jansiski Motta, Anna Carolina Ratto Tempestini Horliana, Raquel Agnelli Mesquita-Ferrari, Renato Araujo Prates, Alessandro Melo Deana, Cinthya Cosme Gutierrez Duran, Rita de Cássia Loiola Cordeiro, Kristianne Porta Santos Fernandes, Lourdes Aparecida Martins Dos Santos-Pinto, Sandra Kalil Bussadori","doi":"10.21037/tp-24-480","DOIUrl":"10.21037/tp-24-480","url":null,"abstract":"<p><strong>Background: </strong>Molar incisor hypomineralization (MIH) is a complex developmental enamel defect influenced by various factors, including genetic predisposition. This condition primarily affects the first permanent molars and, in some instances, the permanent incisors. In this case series, we examined the clinical effects of antimicrobial photodynamic therapy (aPDT) and deproteinization with Papacárie on teeth with MIH and carious lesions, focusing on decontamination, hypersensitivity control, and restoration longevity with the use of minimally invasive techniques.</p><p><strong>Case description: </strong>Seven permanent first molars from children aged 7 to 10 years, with carious dentin lesions and post-eruptive fractures, which required restorative clinical treatment, were selected. Selective chemical-mechanical removal of carious tissue and deproteinization were performed using Papacárie^TM, followed by aPDT. A laser device was used, which emitted red light (wavelength: 660 nm, 100 mW, 6 J per spot, 3,571 mW/cm², 214 J/cm², 60 seconds). The teeth were then restored with a combined method involving resin-modified glass ionomer cement and bulk-fill composite resin. Microbiological analysis was conducted, along with the assessment of hypersensitivity using the Visual Analog Scale (VAS) and Schiff Cold Air Sensitivity Scale (SCASS) scales, and the evaluation of the longevity of restorations according to the criteria of the United States Public Health Service (USPHS). Clinical evaluations were performed after 48 hours, 3 months, and 6 months.</p><p><strong>Conclusions: </strong>aPDT proved to be promising treatment for decontamination and hypersensitivity control in molars with hypomineralization and dentinal caries. Moreover, deproteinization with Papacárie offers a promising, minimally invasive approach for enhancing restoration longevity.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"311-321"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671057","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":"Weaning strategies for osmotic laxatives in children with functional constipation: a pilot multicenter randomized controlled trial.","authors":"Yoo Min Lee, Ju Young Kim, Kyung Jae Lee","doi":"10.21037/tp-24-436","DOIUrl":"10.21037/tp-24-436","url":null,"abstract":"<p><strong>Background: </strong>Long-term maintenance of laxatives is crucial for treating functional constipation (FC) in children. This study aimed to compare the success rates of discontinuation based on different drug reduction methods, in order to identify the optimal strategy for discontinuing laxative use.</p><p><strong>Methods: </strong>This open-label randomized controlled trial was conducted from September 2020 to September 2021. Children with FC who had been successfully treated with lactulose for more than three months were included. Patients were randomly assigned to one of two groups: dose reduction or frequency reduction over a three-month period. The primary outcome was the weaning success rate at week 12. Participants were divided into two subgroups based on the pre-weaning lactulose dosage: the low-dose group (≤1.5 g/kg/day) and the high-dose group (>1.5 g/kg/day).</p><p><strong>Results: </strong>A total of 16 patients were enrolled, with a median age of 43 months and 11 boys. There were no significant differences in baseline characteristics between the two groups. The primary outcome showed no significant difference: 66.7% for dose reduction <i>vs.</i> 57.1%. for frequency reduction. Weaning success rates decreased at week 16 (33.3% <i>vs.</i> 57.1%) and week 24 (33.3% <i>vs.</i> 42.9%) without significant differences. In the subgroup analysis, the high-dose group showed a significantly higher weaning success rate at 12 weeks compared to the low-dose group (81.8% <i>vs.</i> 20%, P=0.04). Other measures, including median defecation frequency, incontinence episodes, stool consistency, painful defecations, and compliance, were also similar between the groups. Patient satisfaction was 77.8% for dose reduction and 57.1% for frequency reduction, with no significant difference.</p><p><strong>Conclusions: </strong>The method of reducing the dose or frequency of lactulose did not affect the weaning success rate in children with FC. However, a pre-weaning lactulose dose exceeding 1.5 g/kg/day may lead to better outcomes at week 12. Despite gradual reduction over more than 3 months, the weaning success rate remained low, highlighting the importance of careful drug discontinuation and follow-up.</p><p><strong>Trial registration: </strong>The Clinical Research Information Service of the Korea Center for Disease Control and Prevention (https://cris.nih.go.kr/cris, registration No. KCT0006286).</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"252-261"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671192","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":"Peripheral blood cytokine expression levels and their clinical significance in children with influenza.","authors":"Yanxia Zou, Mengwei Ding, Yidan Zheng, Ge Dai, Ting Wang, Canhong Zhu, Yongdong Yan, Jufen Xu, Renzheng Wang, Zhengrong Chen","doi":"10.21037/tp-2024-534","DOIUrl":"10.21037/tp-2024-534","url":null,"abstract":"<p><strong>Background: </strong>Cytokine levels in the peripheral blood of children infected with the influenza A virus are significantly associated with disease diagnosis and severity. This study aimed to investigate the correlation between the expression levels of six cytokines in the peripheral blood of pediatric patients with influenza and the diagnosis and severity of their condition.</p><p><strong>Methods: </strong>The levels of six cytokines were measured using a flow cytometric microsphere array. Statistical analysis was performed using IBM SPSS Statistics 26.0 to compare differences between the groups, with a P value of less than 0.05 considered statistically significant.</p><p><strong>Results: </strong>Univariate analysis showed that the levels of interferon alpha-2 (IFN-α2), monocyte chemoattractant protein-1 (MCP-1), interleukin-6 (IL-6), interleukin-8 (IL-8), interleukin-10 (IL-10), and interleukin-18 (IL-18) were significantly elevated in the influenza group (P≤0.001). IL-18 levels were higher in the H3N2 group than in the H1N1 group (P=0.03), and IFN-α2 levels were higher in the Mycoplasma coinfection group compared to the influenza-only group (P=0.04). Notably, significant differences in IFN-α2 and MCP-1 levels were observed between the mild-moderate and severe influenza A subgroups (P=0.008, P=0.01, respectively). Negative correlations were found between the severity of influenza A and the levels of IFN-α2 and MCP-1 (r=-0.357, P=0.006 and r=-0.329, P=0.01, respectively). Multifactorial logistic regression and receiver operating characteristic (ROC) curve analysis identified IFN-α2 and MCP-1 as independent risk factors for severe influenza A.</p><p><strong>Conclusions: </strong>Inflammatory cytokine levels are critical in modulating the immune and inflammatory responses of the body. IFN-α2 and MCP-1 could serve as early indicators of severe influenza A. IL-18 levels were significantly higher in the H3N2 group compared to the H1N1 group, this finding may aid in differentiating between influenza subtypes, providing insights for tailored interventions.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"286-297"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671190","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":"A prospective clinical study of allergy progression in identical and fraternal twin pairs of children.","authors":"Jing Wang, Li Wang, Shuang Liu, Yuling Han, Darryl J Adamko, Lu Cheng, Jingjing Gao, Yun Zhang, Xiang Ma, Aihua Cao","doi":"10.21037/tp-2024-615","DOIUrl":"10.21037/tp-2024-615","url":null,"abstract":"<p><strong>Background: </strong>Understanding the factors leading to the development of allergic disease is a critical area of research. We studied the development of allergic disease in identical and fraternal twins to identify potential differences in environment versus genetic factors.</p><p><strong>Methods: </strong>Twins aged up to 4 years were selected for inclusion in this long-term follow-up study. Regular questionnaire results, allergen levels, and other indicators were examined.</p><p><strong>Results: </strong>A total of 80 twins were included in this study. Over time, the incidence of atopic dermatitis (AD) decreased, and the incidence of rhinitis and wheezing increased. The incidence of AD, rhinitis, and food allergy was significantly higher in identical twins than fraternal twins. The consistency of positive inhaled allergens and positive food allergens was significantly higher in the identical twins than fraternal twins. The factors influencing allergic diseases were analyzed. In the identical twins, AD was more frequent in males, those with a birth weight <2,500 g, and having siblings; rhinitis was more frequent in those living in a bungalow style home, having pets, and carpeting; and wheezing was more frequent in males, having a birth weight <2,500 g, and having siblings. In the fraternal twins, AD was more frequent in those born <37 weeks gestation, and having flowers and plants in the house; rhinitis was more frequent in those born <37 weeks gestation, those with a history of neonatal asphyxia, and having a household smoking; and wheezing was more frequent in those born <37 weeks gestation, those with a history of neonatal asphyxia, with central heating, and household smoking. No factors were found to affect the occurrence of food allergy.</p><p><strong>Conclusions: </strong>Allergic diseases in children have a strong genetic predisposition, but are also influenced by environmental factors. The environmental factors affecting the occurrence of allergic diseases in identical and fraternal twins differ.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"298-310"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671024","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":"Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.","authors":"Wenyi Liang, Fanshu Xu, Yulan Lu, Huiyao Chen, Xiang Chen, Hui Xiao, Liyuan Hu","doi":"10.21037/tp-24-485","DOIUrl":"10.21037/tp-24-485","url":null,"abstract":"<p><strong>Background: </strong>The genetic etiology and clinical characteristics of neonates with hyperkalemia remain unknown. We aimed to implement early gene sequencing to identify genetic causes, optimize treatment and improve outcomes in this population.</p><p><strong>Methods: </strong>We retrospectively studied the clinical characteristics and genetic etiology of neonates with hyperkalemia who underwent exome sequencing or targeted panel sequencing from January 1, 2016, to December 31, 2023, at the Department of Neonatology, Children's Hospital of Fudan University.</p><p><strong>Results: </strong>Among 3,757 neonates with hyperkalemia, approximately 14.08% underwent sequencing. The average gestational age was 34.82±3.94 weeks, and the average birth weight was 2,375.22±864.09 grams. Males accounted for 56.0% of the cohort. The risk factors for hereditary hyperkalemia included dry skin, pigmentation and pseudohermaphroditism. Of these factors, only pigmentation independently predicted the genetic etiology of hyperkalemia; the presence of pigmentation increased the risk of hyperkalemia by 29.586 times [odds ratio (OR) 29.586, confidence interval (CI): 4.927-177.649, P<0.001]. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, we found that 7.56% hyperkalemia neonates had a genetic diagnosis; 28 genes were identified, including 18 genes not previously reported. Among genetic diseases, congenital adrenal hyperplasia (CAH) had the highest incidence (1.7%). For neonates with mineralocorticoid deficiency, early treatment with hydrocortisone reduced adverse outcomes to some extent. Gene Ontology (GO) analysis indicated that these genes were enriched primarily in nephron development.</p><p><strong>Conclusions: </strong>The genetic etiology of neonatal hyperkalemia is complex. When clinical manifestations involve risk factors, it is advisable to conduct hormone testing and provide symptomatic treatment. Early genetic testing can aid in the diagnosis of hyperkalemia and improve the treatment of neonates with atypical clinical manifestations.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"240-251"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671079","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":"Aortic dissection in children: case report and literature review.","authors":"Yujiang Liu, Dong Huang, Yun Pan, Hongbo Luo, Ying Wang, Wengang Yang, Long Xiang","doi":"10.21037/tp-24-460","DOIUrl":"10.21037/tp-24-460","url":null,"abstract":"<p><strong>Background: </strong>Aortic dissection is rare in both children and adults. Misdiagnosis is common because of hidden symptoms, insufficient knowledge among pediatricians, and lack of consensus and guidelines. We aimed to report the clinical features of patients and enhance the diagnostic awareness of aortic dissection in children with acute chest pain or trauma, avoid delayed diagnosis and the subsequent worsening of clinical outcomes.</p><p><strong>Case description: </strong>We presented three cases of pediatric aortic dissection and summarized our findings from the literature. We treated a 13-year-old boy with Stanford Type A aortic dissection, a 9-year-old boy with Stanford Type B aortic dissection, and an 11-year-old boy with Stanford Type A aortic dissection. Two patients had spontaneous aortic lesions, one had a traumatic aortic lesion, and all three were discharged from our hospital after thoracotomy. We searched the Medline database using PubMed and platforms such as Springer Link and Google Scholar with the search terms \"aortic dissection\" and \"pediatric\" or \"children\". We retrieved 27 reports describing 34 cases of aortic dissection in patients aged ≤16 years published from 1990 to 2024 to summarize the characteristics of precipitating factors, aortic dissection status, and clinical presentations.</p><p><strong>Conclusions: </strong>The prognosis of children with aortic dissection after treatment is generally better than that of adults. In pediatric emergency settings, persistent chest pain that does not alleviate and cannot be attributed to common illnesses warrants heightened suspicion of aortic dissection. Surgical treatment should be promptly performed once the condition is diagnosed.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"350-359"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671139","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":"Association of testicular calcifications and intracranial germinoma: a case report and review of the literature.","authors":"Jian-Wei Huang, Yi-Fei Wang, Bao-Yu Zhang, Chao-Ran Jia, Hong-Yu Liu, Xin Liu, Zhuo-Peng Ye, Shuang-Qi Gao, Ying Guo","doi":"10.21037/tp-24-403","DOIUrl":"10.21037/tp-24-403","url":null,"abstract":"<p><strong>Background: </strong>Seminoma is a rare type of germ cell tumor, especially in the central nervous system, and the reason for its development is unknown. Testicular calcifications are a precursor to testicular microlithiasis, which is a high-risk factor for testicular cancer (TC) in adolescent males, and seminoma is a common pathological type of TC.</p><p><strong>Case description: </strong>This article reported an adolescent male who was admitted to the hospital due to headache and limb weakness, and the imaging showed that there was a mass at the basal ganglia of the thalamus, and after the brain biopsy was completed in the hospital, the pathological results showed that he was a seminoma, so we performed scrotal ultrasound during the same hospitalization, and found that the patient had multiple divergent calcifications in both testes, and then the patient was transferred to the Department of Internal Medicine for radiotherapy and chemotherapy, and has now recovered and been discharged, and in the subsequent follow-up, the patient has no complications. This article reviews the literature on seminoma and testicular calcifications, and discusses the possible links and causal relationships between the two diseases.</p><p><strong>Conclusions: </strong>Intracranial germinoma has been reported rarely, and the pathogenesis is unclear. We found that it may be associated with testicular lesions, and in adolescent men, scrotal ultrasound should be done regularly, and brain biopsy should be preferred over tumor resection in patients with such brain tumors.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"360-366"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671142","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":"A novel polyribonucleotide nucleotidyltransferase 1 (<i>PNPT1</i>) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.","authors":"Yan-Yan Li, Yan Gao, Xiong-Xiong Zhong, Guang-Fu Chen","doi":"10.21037/tp-24-419","DOIUrl":"10.21037/tp-24-419","url":null,"abstract":"<p><strong>Background: </strong>Combined oxidative phosphorylation deficiency 13 (COXPD13) results from mutations in the mitochondrial polyribonucleotide nucleotidyltransferase 1 (<i>PNPT1</i>) gene. However, none of COXPD13 is reported in China. This study presents the clinical and molecular genetic features of an infant of Chinese descent identified with a novel <i>PNPT1</i> mutation, which may be associated with COXPD13.</p><p><strong>Case description: </strong>Here, we presented a case of a Chinese boy exhibiting multiple organ damage, white matter changes, epilepsy, abnormalities in muscle tone and strength, global developmental delay, growth retardation, and visual and auditory impairment. The patient also showed elevated lactate levels in the plasma. Furthermore, whole-exome sequencing (WES) revealed a homozygous mutation, c.1033A>G (p.K345E), in the <i>PNPT1</i> gene. Self-optimized prediction method (SOPMA) and AlphaFold modeling, along with missense 3-dimensional (3D) prediction, indicated that this variant negatively impacted both the secondary and tertiary structures of the PNPT1 protein. The <i>PNPT1</i> variant may alter the surface electrostatic potential at position 345 from electropositive to electronegative. Additionally, mutant cutoff scanning matrix (mCSM), and daughters, dudes, mothers, and others fighting cancer together (DUET) predicted that the variant disrupted the stability of the protein structure.</p><p><strong>Conclusions: </strong>The novel <i>PNPT1</i> gene variant, c.1033A>G (p.K345E), is predicted to disrupt the secondary and tertiary structures of the PNPT1 protein, impairing its normal function. This disruption may lead to mitochondrial RNA processing defects, contributing to the development of COXPD13.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 2","pages":"338-349"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671019","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}