Translational pediatrics最新文献

{"title":"Development and validation of an insulin resistance prediction model in children and adolescents using machine learning algorithms.","authors":"Xiu Huang, Kun Yi, Lin Jia, Yinmei Li, Hui He, Can Ma, Xiao Fang","doi":"10.21037/tp-2024-502","DOIUrl":"https://doi.org/10.21037/tp-2024-502","url":null,"abstract":"<p><strong>Background: </strong>Insulin resistance (IR) is a precursor to metabolic disorders like type 2 diabetes and hypertension in children and adolescents. Early detection of IR is critical to prevent severe metabolic complications. IR is influenced by factors such as diet, inflammation, and genetics. However, existing studies often focus on limited populations and overlook dietary factors. This study aimed to evaluate the use of machine learning (ML) models for early IR prediction in children and adolescents, emphasizing accuracy.</p><p><strong>Methods: </strong>We used physical examination data of children and adolescents aged 6-17 years from the China Health and Nutrition Survey (CHNS) database as the training set and collected routine physical examination data from children and adolescents aged 6-17 years admitted to Nanchong Central Hospital and the Nanchong City Jialing District People's Hospital in Sichuan Province from January 2019 to October 2024 for validation. IR was assessed using the Homeostatic Model Assessment for IR (HOMA-IR) score, with a cutoff of >3.0 indicating IR. Potential predictors included demographic details, lifestyle habits, and blood test results. We conducted univariate logistic regression (LR) analysis to select variables with statistical significance and then constructed and compared the back propagation neural network (BPNN), exhaustive Chi-squared automatic interaction detector (E-CHAID), support vector machine (SVM), and LR models.</p><p><strong>Results: </strong>The training sample included 827 children and adolescents (281 with IR and 546 without IR), while the test sample included 207 participants. The SVM model demonstrated superior predictive accuracy (91.90% in training and 90.34% in test set) compared to the E-CHAID (77.75% in training and 72.95% in test set), BPNN (75.94% in training and 70.05% in test set), and LR models (76.18% in training and 71.01% in test set). Sensitivity, specificity, Youden's index, and area under the curve (AUC) values also favored the SVM model in both training and test samples.</p><p><strong>Conclusions: </strong>Compared with the E-CHAID, BPNN, and LR models, the SVM model exhibited superior predictive ability for IR in children and adolescents based on physical examination data that include dietary factors. These findings suggest that the SVM model could serve as a valuable tool for early clinical prediction of IR, potentially aiding in the prevention of type 2 diabetes mellitus (T2DM) and associated metabolic complications. Further research is needed to validate these results in larger and more diverse populations.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"452-462"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051150","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":"Clinical characteristics of infants with protracted bacterial bronchitis: an observational cohort study.","authors":"Yaping Xie, Chen Chen, Diyuan Yang, Xuehua Xu, Gen Lu, Huifeng Fan","doi":"10.21037/tp-2024-509","DOIUrl":"https://doi.org/10.21037/tp-2024-509","url":null,"abstract":"<p><strong>Background: </strong>Infants with protracted bacterial bronchitis (PBB) have been reported in case reports and limited small case series, which is not commonly recognized. The aim of the study is to determine the clinical features and image findings of infants with PBB for early detection and diagnosis.</p><p><strong>Methods: </strong>Infants with PBB were prospectively enrolled during January 2021 to January 2024 in Guangzhou Women and Children's Medical Center. Clinical data were collected, including clinical manifestations, laboratory parameters, radiological findings, management, and follow-up.</p><p><strong>Results: </strong>There were 37 patients included (30 boys, 81.08%; 7 girls, 18.92%) with a median onset age of 6 months [interquartile range (IQR), 4-7.5 months]. All patients presented with wet cough (100.00%), 34 presented with persistent wheezing (91.89%). <i>Moraxella</i> bacteria (12/37, 32.43%) and <i>Streptococcus pneumoniae</i> (11/37, 29.73%) were the most often diagnosed pathogens. There were nine patients detected with multiple drug-resistant strains by bronchoalveolar lavage (BAL) cultures (9/32, 28.13%). Uneven inflation was the most common form of chest computed tomography (CT) manifestation (27/37, 72.97%). Under bronchoscopy, thick pale yellow or yellow mucus was attached to the airway in all patients. The use of antibiotics was permitted for all infants with PBB after a definite diagnosis (37/37, 100.00%). The condition can be completely mitigated (34/37, 91.89%), only three patients developed recurrent PBB.</p><p><strong>Conclusions: </strong>Wheezing was a very common clinical performance in infants with PBB, and the most common pathogens were <i>Moraxella</i> bacteria and Streptococcus pneumoniae. The CT performance of PBB mainly is uneven inflation in infants.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"400-408"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041124","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":"Epidemiological characteristics and trends based on a joinpoint regression model of preterm birth with congenital heart disease in Changsha City, China, from 2011 to 2023.","authors":"Jin Fu, Huan Chen, Jinlian Wang, Yaling Xiao, Bei Zhang, Wenbo Liao","doi":"10.21037/tp-24-411","DOIUrl":"https://doi.org/10.21037/tp-24-411","url":null,"abstract":"<p><strong>Background: </strong>Preterm birth (PTB) and congenital heart disease (CHD) are major public health problems, and there are some associations in neonates between PTB and CHD. This study aimed to analyze the epidemiological characteristics and trends of PTB with CHD, including gender, residence, and maternal age.</p><p><strong>Methods: </strong>This was an observational retrospective study of neonates with CHD born in Changsha City and discharged with a diagnosis of PTB from 2011 to 2023. The incidence and 95% confidence interval (CI) of PTB with CHD were calculated according to different gender, residence, and maternal age, respectively. Categorical data were shown as frequencies and percentages, and inter-group comparisons were conducted using the chi-square test. Joinpoint regression analysis of trends of PTB with CHD in total, different residence, and maternal age, respectively, was conducted.</p><p><strong>Results: </strong>A total of 6,559 neonates with CHD were included. Of those, 1,039 were born preterm. The overall incidence of PTB with CHD was 15.84%. There was no statistically significant difference in the incidence of PTB with CHD between male and female infants (χ²=0.318, P=0.57). The incidence of PTB with CHD was higher in rural areas than it was in urban areas (χ²=27.92, P<0.001). The analysis showed significant differences in different maternal age groups (χ²=73.417, P<0.001). Overall, the incidence of PTB with CHD in Changsha City between 2011 and 2023 was on the rise in general, but without statistically significant difference in the trend [average annual percentage change (AAPC) =4.36%, P=0.09]. The incidence of PTB with CHD in urban areas of Changsha City increased from 2011 to 2023, and showed an obvious upward trend. The incidence of PTB with CHD in maternal age 30-34 years showed an obvious upward trend from 2011 to 2015 (APC =24.31, P=0.02), and showed a downward trend from 2015 to 2023 without statistically significant difference (APC =-3.62, P=0.20). Meanwhile, the incidence of PTB with CHD in maternal age ≥35 years showed an obvious upward trend from 2011 to 2016 (APC =25.49, P=0.04), and showed a downward trend from 2016 to 2023 without statistically significant difference (APC =-8.78, P=0.14).</p><p><strong>Conclusions: </strong>Overall, the incidence of PTB with CHD in Changsha City from 2011 to 2023 was below the national average, and it showed an upward trend. Residence and maternal age were the determining factors for the incidence of PTB with CHD. There were obvious upward trends of the incidence of PTB with CHD in urban areas between 2011 and 2023, and in maternal age 30-34 years between 2011 and 2015, as well as in maternal age ≥35 years between 2011 and 2016.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"382-390"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014672","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":"The hidden ophthalmic dangers of steroids in COVID-19 treatment: a case report.","authors":"Zhehuan Zhang, Tianchen Wu, Wenwen Xu, Di Hu, Chenhao Yang","doi":"10.21037/tp-24-443","DOIUrl":"https://doi.org/10.21037/tp-24-443","url":null,"abstract":"<p><strong>Background: </strong>Coronavirus disease 2019 (COVID-19) has been coexisted with us, and corticosteroids are now recommended for patients with severe COVID-19 respiratory failure. Steroid treatments may increase intraocular pressure (IOP) and steroid-induced glaucoma (SIG). This study reported a rapid IOP elevation in a COVID-19 pneumonia child treated with systemic steroids within 3 days. Steroid-induced ocular hypertension (SIOH) during pneumonia treatment has not been previously reported.</p><p><strong>Case description: </strong>The 6-year-old Chinese girl was diagnosed with COVID-19 and presented with pulmonary exudative lesions. Intravenous steroid (methylprednisolone, 1 mg/kg/12 h) was administered to control the inflammatory reaction on the fourth day post-infection. The child complained of ocular pain in the left eye (OS) after 3 days of steroid application. A high IOP of 40 mmHg in the right eye (OD) and 60 mmHg (OS) was detected. Following the exclusion of elevated IOP secondary to COVID-19 infection, SIOH was considered as a potential etiology. The IOP was effectively controlled through prompt tapering of systemic steroids and the immediate initiation of IOP-lowering therapy, including intravenous mannitol and topical antiglaucoma medications.</p><p><strong>Conclusions: </strong>Clinicians treating COVID-19 in hospitals should pay attention to SIOH or SIG risk, especially in pediatric patients.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"516-521"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045784","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 retrospective cohort study comparing the therapeutic efficacy of three surgical interventions for pediatric flexible flatfoot.","authors":"Xiongke Hu, Guanghui Zhu, Kun Liu, Haibo Mei, Qian Tan","doi":"10.21037/tp-23-610","DOIUrl":"https://doi.org/10.21037/tp-23-610","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;This retrospective study evaluated clinical and radiological outcomes of three surgeries for children's flexible flatfeet. A consensus on the most effective surgical approach is lacking, but it's crucial for improving affected children's function and quality of life.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;From June 2013 to August 2019, a total of 31 children (49 feet) with flexible flatfoot were treated. Consecutive patients aged 6-18 years with symptomatic flexible flatfoot (failure of ≥6-month conservative therapy) were included. Exclusion criteria included neuromuscular disorders or prior foot surgery. Surgical allocation was based on surgeon expertise and anatomical severity: subtalar extra-articular screw arthroereisis (SESA) group (10 feet), HyProCure implantation at tarsal sinus (HyProCure group) (21 feet), calcaneo-cuboid-cuneiform (Triple C) osteotomy group (18 feet). The general data, preoperative imaging data, postoperative imaging data, and final follow-up imaging data were recorded. Baseline characteristics were comparable across the three groups, including age, sex, and preoperative American Orthopedic Foot and Ankle Society (AOFAS) scale. Clinical outcomes were assessed using the modified AOFAS. A total of six parameters on anteroposterior (AP) and lateral X-rays of the foot in weight loading were measured and compared.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The operative time and intraoperative blood loss in the SESA group and HyProCure group were significantly lower than those in the Triple C osteotomy group (P&lt;0.05). However, the duration of correcting flatfoot in the Triple C osteotomy group was better than that in the other two groups (P&lt;0.05). The postoperative follow-up lasted for at least 32 months, with an average of 41 months. The AOFAS scores of all three groups showed significant improvement compared to preoperative scores (P&lt;0.05). As for postoperative imaging measurement indexes among all three groups, AP talo-first metatarsal angle, lateral talo-first metatarsal angle, AP talocalcaneal angle, Talonavicular coverage angle, and calcaneal pitch angle had significantly improved from preoperatively measured values (P&lt;0.05). There was no significant difference observed between clinical outcomes or imaging measurement indexes among these three groups. The incidence rate of tarsal sinus pain was 10% in the SESA group while 14.3% was observed in the HyProCure group; no patient underwent removal of internal fixation due to obvious pain symptoms. In the SESA group, 10% incidence rate was observed for fibular muscle contracture while 16.7% incidence rate was seen for wound pain after the Triple C osteotomy procedure.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Compared to the other two groups, the Triple C osteotomy group corrects flatfoot deformities quicker but has a longer surgery and more bleeding. SESA, HyProCure implantation at tarsal sinus, and Triple C osteotomy achieve satisfactory results for symptomatic flex","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"422-431"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050287","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":"Labyrinthitis ossificans with fluctuating symptoms lasting for more than 10 years: a case report and literature review.","authors":"Jing Wang, Wenjuan Li, Yinghui Hu, Wanyu Lu, Xiao Yu, Xiaofei Li, Daogong Zhang, Haibo Wang","doi":"10.21037/tp-2025-128","DOIUrl":"https://doi.org/10.21037/tp-2025-128","url":null,"abstract":"<p><strong>Background: </strong>Labyrinthitis ossificans (LO) is the end stage of labyrinthitis. Existing case reports primarily center around hearing loss and overlook a crucial aspect that patients with LO frequently experience balance problems, while our study fills this gap. We report a rare case of bilateral labyrinthitis secondary to meningitis with recurrent fluctuations in cochlear and vestibular symptoms over more than a decade, and incomplete ossification of the labyrinth.</p><p><strong>Case description: </strong>An 8-month-old female patient was diagnosed with meningitis, and later experienced developmental delays and hearing issues. By 4-5 years, she had complete sensorineural hearing loss in the left ear. At 13 years, she started to experience problems in the right ear, such as hearing decline and aural fullness. Computed tomography and gadolinium-enhanced magnetic resonance imaging showed specific inner ear changes, and a decline in vestibular function. During the treatment course, the patient initially demonstrated an improvement in right - ear hearing. Nevertheless, her auditory function subsequently deteriorated, ultimately underwent cochlear implantation surgery. Fortunately, following the comprehensive treatment regimen, the patient's balance function recovered, and symptoms of dizziness ceased to recur.</p><p><strong>Conclusions: </strong>This patient suffered from a rare form of labyrinthitis with fluctuating cochlear and vestibular symptoms over an extended course of illness. Despite the temporary effectiveness of corticosteroid treatment during the process, cochlear implantation was ultimately required. During the treatment, we paid special attention to the patient's vestibular function and observed a significant decline in bilateral vestibular function. Based on the examination results, we have provided more comprehensive treatment and lifestyle recommendations to better ensure her safety during activities.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"507-515"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038632","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 case report of Prader-Willi syndrome in a child with metabolic disorders and severe obstructive sleep apnea treated effectively with continuous positive airway pressure.","authors":"Jiwei Zhu, Qianqian Jiao, Yunliang Sun, Ruixue Wang, Jianghua Liu, Kai Zhang, Manlu Lu, Lu Liu, Junhong Yan, Yan Yu, Lei Pan","doi":"10.21037/tp-2024-537","DOIUrl":"https://doi.org/10.21037/tp-2024-537","url":null,"abstract":"<p><strong>Background: </strong>Prader-Willi syndrome (PWS) is a rare genetic disorder associated with multiple diseases, including poor growth, genital hypoplasia, short stature, and sleep apnea syndrome (SAS). Sleep-disordered breathing is common in PWS and is often ignored by clinicians. This paper reports a patient with PWS complicated with severe obstructive sleep apnea (OSA).</p><p><strong>Case description: </strong>A 13-year-old male patient was admitted to the hospital due to ptosis, lethargy, and weight gain. Polysomnography (PSG) showed OSA and severe hypoxemia. Imaging examination showed scoliosis. Laboratory tests suggested that the patient had metabolic dysfunction. Finally, PWS was diagnosed by chromosome karyotype and gene analysis. The patient's obesity and OSA represented contraindications to growth hormone. After continuous positive airway pressure (CPAP) treatment, the patient's sleep apnea symptoms and height were significantly improved, apnea-hypopnea index (AHI) index was significantly decreased, peripheral oxygen saturation was increased, and his height increased by 4 cm. At present, the patient has been treated with growth hormone after exclusion of contraindications.</p><p><strong>Conclusions: </strong>This case reports a patient with PWS with severe OSA who had improved height after CPAP treatment alone. This patient's diagnosis had been delayed due to differences in medical education and medical level among the treating physicians. Timely diagnosis and treatment can improve the quality of life of children.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"487-493"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035848","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":"Understanding the unconventional reemergence of <i>M. pneumoniae</i> epidemics during the COVID-19 pandemic.","authors":"Bingjie Liu, Lina Xu, Yuqing Wang, Chuangli Hao, Wujun Jiang","doi":"10.21037/tp-24-482","DOIUrl":"https://doi.org/10.21037/tp-24-482","url":null,"abstract":"<p><p>Since the implementation of coronavirus disease 2019 (COVID-19) restrictions since 2020, the number of <i>Mycoplasma pneumoniae</i> (<i>M. pneumoniae</i>) infections in children has significantly decreased. However, after the end of the COVID pandemic, there has been a notable resurgence in <i>M. pneumoniae</i> infections, which is particularly unusual in terms of both the number of infections and their severity. The purpose of this article is to review the existing evidence and explore theories that underlying the epidemiological shifts of <i>M. pneumoniae</i> following the COVID-19 pandemic, and propose factors contributing to the unconventional resurgence of <i>M. pneumoniae</i> infections. Proposed factors include decline of <i>M. pneumoniae</i> immunity, circulation of different genetic types and emergence of new macrolide-resistant <i>M. pneumoniae</i> (MRMP) variants, immune dysregulation following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and others. Among these factors, the decline in <i>M. pneumoniae</i> immunity and the circulation of different genetic types are considered significant contributors. Further research in bacterial genomics and more robust immunology studies are needed to guide the prevention of <i>M. pneumoniae</i> infections and the allocation of healthcare resources. International cooperation and information sharing are crucial for understanding the epidemiological changes of <i>M. pneumoniae</i>. Further cross-regional collaboration is called to enhance our understanding of the scope of <i>M. pneumoniae</i> outbreaks and facilitate a collective response.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"473-479"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033984","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":"MtDNA 3243 A>G mutation and recurrent cholangitis after Kasai procedure in biliary atresia: a case report.","authors":"Jie Sun, Yanan Zhang, Dayan Sun, Jinshi Huang","doi":"10.21037/tp-2024-592","DOIUrl":"https://doi.org/10.21037/tp-2024-592","url":null,"abstract":"<p><strong>Background: </strong>Cholangitis following the Kasai procedure contributes to a poor prognosis in biliary atresia (BA). We report a case of a pediatric patient with BA who developed recurrent cholangitis after undergoing a Kasai procedure and was subsequently found to carry the mitochondrial DNA (mtDNA) 3243 A>G mutation.</p><p><strong>Case description: </strong>This case involves a 7-month-old female infant who, at 2 months of age, exhibited symptoms including jaundice, stool discoloration, and dark urine, prompting a diagnosis of hyperbilirubinemia. Hepatobiliary dynamic imaging suggested BA, a diagnosis confirmed by abdominal ultrasound and laparoscopic exploration at our hospital. She underwent a Kasai procedure and was discharged on day 19. However, recurrent, treatment-resistant cholangitis subsequently led to her readmission. Given the patient's complex clinical course, genetic testing, conducted with informed consent, revealed a pathogenic mtDNA variant at position 3243 (A>G). Due to the severity of her condition, she underwent liver transplantation 5 months after the Kasai procedure.</p><p><strong>Conclusions: </strong>This article reports a rare case of the mtDNA 3243 A>G mutation presenting as recurrent cholangitis, suggesting that mitochondrial dysfunction may consistently induce inflammation. This case highlights the importance of recognizing mitochondrial mutations in BA due to their critical impact on the patient's prognosis. A comprehensive genetic evaluation may benefit patients with BA accompanied by recurrent cholangitis.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 3","pages":"522-528"},"PeriodicalIF":1.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999807","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":"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}