Translational pediatrics最新文献

{"title":"Comparative seroepidemiology of <i>Mycoplasma pneumoniae</i> in children before and after the COVID-19 pandemic: a retrospective cohort study [2019-2022].","authors":"Guangfeng Long, Xianwei Zhang, Li Yang, Aihua Zhang","doi":"10.21037/tp-2025-209","DOIUrl":"10.21037/tp-2025-209","url":null,"abstract":"<p><strong>Background: </strong>During the pandemic of the coronavirus disease 2019 (COVID-19), various public health measures effectively reduced the spread of respiratory pathogens like influenza. However, the specific effects of these measures on the transmission patterns of <i>Mycoplasma pneumoniae</i> in children-including age and gender differences and regional transmission dynamics-remain not fully understood in Jiangsu Province. This study addressed this gap by analyzing 4 years of longitudinal serum prevalence data to measure the epidemic's impact on <i>Mycoplasma pneumoniae</i> transmission among children.</p><p><strong>Methods: </strong>We retrospectively analysed the immunoglobulin M (IgM) and immunoglobulin G (IgG) detection data of <i>Mycoplasma pneumoniae</i> in Jiangsu Children's Medical Center from January 2019 to December 2022 to study the influence of the COVID-19 pandemic on the transmission of major respiratory diseases in children in and around Nanjing. From 2019 to 2022, a total of 55,604 people took IgG tests, and 84,563 people took IgM tests. Chemiluminescence immunoassay (CLIA) was used to measure <i>Mycoplasma pneumoniae</i>-specific IgM and IgG antibodies quantitatively. We applied one-way analysis of variance (ANOVA) for continuous variables across three or more groups, and utilized Pearson χ² or Fisher's exact tests to compare categorical variables between groups.</p><p><strong>Results: </strong>From 2019 to 2021, annual testing volumes declined (IgG: 20,596 to 7,157 and 12,957; IgM: 35,910 to 9,667 and 18,107). Specifically, the IgM-positive rate for <i>Mycoplasma pneumoniae</i> decreased from 29.6% in 2019 to 26.5% in 2020 and 22.2% in 2021. The positive rate for IgG dropped from 17.2% in 2019 to 10.0% in 2020 and 6.9% in 2021. Notably, school-age children showed significantly higher seropositivity than preschoolers (IgM: P<0.001; IgG: P<0.001), and girls had higher IgM positivity than boys (e.g., 2019: 31.8% <i>vs.</i> 26.4%, P<0.001).</p><p><strong>Conclusions: </strong>Between 2020 and 2021, COVID-19 intervention measures significantly lowered the transmission of <i>Mycoplasma pneumoniae</i>. However, data from 2022 suggest a risk of rebound. We need to be alert the possible resurgence of <i>Mycoplasma pneumoniae</i> in children. This calls for clinical action: increasing polymerase chain reaction (PCR) testing during the seasonal peak and focusing on monitoring school-aged children and girls.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1845-1853"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065581","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":"Global burden of <i>Listeria monocytogenes</i> meningitis in children, 1990-2021: an analysis from the Global Burden of Disease Study 2021.","authors":"Zichen Zhang, Taixiang Liu, Ruiying Qian, Yuanyuan Zhu, Tianming Yuan","doi":"10.21037/tp-2025-315","DOIUrl":"10.21037/tp-2025-315","url":null,"abstract":"<p><strong>Background: </strong><i>Listeria monocytogenes</i> (<i>L. monocytogenes</i>) meningitis is a life-threatening infection in young children, characterized by rapid progression, severe complications, and high mortality. However, large-scale epidemiological research on its global burden remains limited. This study aims to systematically assess the global burden of <i>L. monocytogenes</i> meningitis in children aged 0-14 years from 1990 to 2021.</p><p><strong>Methods: </strong>We utilized data from the 2021 Global Burden of Disease study to extract mortality and disability-adjusted life years (DALYs) attributable to <i>L. monocytogenes</i> meningitis across 204 countries and regions from 1990 to 2021. The dataset was stratified by age, sex, year, and sociodemographic index (SDI), facilitating a comprehensive subgroup analysis. Percentage change and average annual percentage change (AAPC) were employed to evaluate long-term trends in disease burden. Furthermore, frontier analysis was conducted to assess the relationship between socio-economic development and disease control.</p><p><strong>Results: </strong>In 2021, the global burden of <i>L. monocytogenes</i> meningitis in children under 14 years old included 5,387 deaths and 474,378 DALYs. From 1990 to 2021, the global burden of <i>L. monocytogenes</i> meningitis in children declined significantly. The overall number of deaths and DALYs decreased by 56.8% [95% uncertainty interval (UI): -67.5% to -42.0%] and 56.9% (95% UI: -67.5% to -42.2%), with lower rates in females than males. Age-stratified analysis revealed that <i>L. monocytogenes</i> meningitis mortality peaked among infants (<1 year) than other age groups. At the regional level, Western Sub-Saharan Africa had the highest rates of mortality and DALYs. Significant inverse correlations were identified between the burden of <i>L. monocytogenes</i> meningitis and SDI. Frontier analysis further validated that higher SDI enhanced capacity for burden reduction.</p><p><strong>Conclusions: </strong>Despite declining global trends, <i>L. monocytogenes</i> meningitis persists as a public health threat, particularly affecting young children and populations in low-SDI regions. Targeted interventions, including food safety improvements, diagnostic advancements, accessible treatments and financial assistance, are urgently needed in resource-limited regions.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1854-1865"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065707","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":"Smartwatches in childhood: a mixed blessing?-a scoping review.","authors":"Rachel S Lim, Samuel Menahem","doi":"10.21037/tp-2025-301","DOIUrl":"10.21037/tp-2025-301","url":null,"abstract":"<p><strong>Background: </strong>Smartwatches are commonly used within the community, especially amongst its younger population. These devices have a wide range of capabilities, including measuring the heart rate, generating electrocardiographic traces, and issuing alerts when 'abnormal' activity is detected. This information has potential benefits but also potential risks if the health-related measurements lead to inappropriate clinical interventions. This study aimed to evaluate the current literature on the prevalence, perception and interpretation of smartwatches that document and record cardiac information as it impacts on children, adolescents and their parents.</p><p><strong>Methods: </strong>We conducted a scoping review based on the principles of Arksey and O'Malley, which followed the scoping review checklist of the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).</p><p><strong>Results: </strong>The selection criteria yielded 29 papers. They reported that smartwatch usage in children ranged from 15% to 40%, depending on the country of residence. The number of children presenting with smartwatch-based heart concerns had increased, with many false positives and few true arrhythmia diagnoses. Although there was good accuracy of heart rate measurements, there were poor automated algorithms for heart rhythm classification for the paediatric population. In addition, a few studies reported paediatric smartwatch user anxiety arising from the information generated by the devices.</p><p><strong>Conclusions: </strong>The wearing of smartwatches has increased in children and adolescents. While they are able to record heart rates and provide corresponding electrocardiographic tracings virtually continuously and non-invasively, misinterpretation of the data arising from poor algorithms have led to increased healthcare presentations, as well as child and/or parental concern. There remains a need for ongoing education to understand the variability of the heart rate, especially in children. Furthermore, better algorithms for the interpretation of the information gleaned are required for this relatively well young population, so as to allay the anxiety that may be experienced. The issues related to medicolegal liability, privacy and cybersecurity remain to be resolved.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"2001-2008"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065676","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":"Noonan syndrome with <i>PTPN11</i> gene variant presenting as isolated short stature: a case report.","authors":"Ji Peng, Ting Huang, Qiulan Wang, Bijing Liu, Luzhen Qin, Yuanyuan Yao","doi":"10.21037/tp-2025-422","DOIUrl":"10.21037/tp-2025-422","url":null,"abstract":"<p><strong>Background: </strong>Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by significant clinical heterogeneity, including distinctive facial features, short stature, developmental delay, congenital heart defects, and thoracic deformities. In some patients, especially in the early stages, the clinical manifestations are atypical and may solely include growth retardation or short stature, leading to misdiagnosis as idiopathic short stature or growth hormone (GH) deficiency and thereby delaying timely intervention.</p><p><strong>Case description: </strong>In this report, a female child is described who exhibited slow weight and height gain since birth. At 18 months, physical examination revealed that her height was below the 3rd percentile, with bone age delayed by 3 months. No typical NS facial features or congenital heart defects were observed. GH stimulation testing indicated partial GH deficiency, and the insulin-like growth factor 1 (IGF-1) level was below normal; thus, a preliminary diagnosis of short stature due to GH insufficiency was made, and nutritional intervention was recommended. However, follow-up revealed a persistent slow growth velocity and progressive bone age delay. At 6 years and 1 month of age, whole-exome sequencing identified a heterozygous c.923A>G (p.Asn308Ser) variant in the <i>PTPN11</i> gene, confirming the diagnosis of NS. Recombinant human growth hormone (rhGH) therapy was subsequently initiated. After rhGH intervention, the patient's annual height velocity increased by 2.4 to 3.2 times compared to pretreatment, which was accompanied by synchronous progression of bone age.</p><p><strong>Conclusions: </strong>This case highlights the importance of early genetic testing in patients with persistent growth retardation unresponsive to standard interventions. rhGH therapy has been shown to be safe and effective in patients with NS and short stature, significantly promoting height gain and bone age development, and should be considered for broader clinical application.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"2057-2065"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065699","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 efficacy and safety of robotic, laparoscopic, and open surgery for pediatric choledochal cysts: a systematic review and network meta-analysis.","authors":"Hongbin Cui, Xing Wang, Weimiao An, Mali Chen, Xingxia Zhang, Shuxun Shi","doi":"10.21037/tp-2025-102","DOIUrl":"10.21037/tp-2025-102","url":null,"abstract":"<p><strong>Background: </strong>Pediatric choledochal cysts (CCs) are typically managed via surgical treatment, and a growing number of pediatric patients with CC are undergoing robotic surgery. However, whether it offers superior safety and efficacy compared to open surgery and laparoscopic surgery remains unclear. The primary aim of this study was to compare the efficacy and safety of three surgical approaches [open cyst excision with a Roux-en-Y hepaticojejunostomy (OP), laparoscopic cyst excision with a Roux-en-Y hepaticojejunostomy (LA), and robotic cyst excision with a Roux-en-Y hepaticojejunostomy (RO)] for CC in children.</p><p><strong>Methods: </strong>PubMed, Embase, Cochrane Library, and Web of Science databases were systematically searched. Two independent reviewers assessed the studies for eligibility and quality and then extracted the relevant data. Confidence in Network Meta-Analysis (CINeMA) and the Newcastle-Ottawa Scale (NOS) were applied for assessing quality. Direct statistical analyses were carried out via Stata 14.0 (StataCorp), while a network meta-analysis was performed through use of using ADDIS 1.16.18 (GetReal Initiative, Innovative Medicines Initiative).</p><p><strong>Results: </strong>A total of 18 studies were included for analysis. OP had the significantly shortest operative time; RO had the significantly shortest hospital stay; and LA had the significantly lowest incidence of postoperative bowel obstruction.</p><p><strong>Conclusions: </strong>RO is effective and safe for the management of CC. The opportunity to convert to open surgery should not be missed due to fears of excessive bleeding or increased postoperative bile leakage.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1921-1931"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145064860","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":"Combined prediction of fractional exhaled nitric oxide and pulmonary function tests for airway hyperresponsiveness in children with chronic cough.","authors":"Li Wang, Yinghong Fan, Jie Hu, Qianqian Li, Ronghua Luo, Yaping Duan, Jiayi Xue, Tao Ai","doi":"10.21037/tp-2025-280","DOIUrl":"10.21037/tp-2025-280","url":null,"abstract":"<p><strong>Background: </strong>Coughing, as one of the most common symptoms of the respiratory system in children, has a variety of etiologies. This study aimed to explore the predictive value of fractional exhaled nitric oxide (FeNO) combined with pulmonary ventilation function tests for airway hyperresponsiveness (AHR) in children with chronic cough.</p><p><strong>Methods: </strong>A total of 157 children with chronic cough who visited Chengdu Women and Children's Central Hospital from January 2020 to January 2024 were included. They were divided into a positive bronchial provocation test group (n=69) and a negative bronchial provocation test group (n=88) based on the results of the bronchial provocation test. The pulmonary ventilation function parameters and FeNO levels of the two groups were compared, and the predictive value of each index for AHR was evaluated through the receiver operating characteristic (ROC) curve.</p><p><strong>Results: </strong>The forced expiratory volume in the first second (FEV1), FEV1/forced vital capacity (FVC), forced expiratory flow at 25% of FVC exhaled (FEF25), forced expiratory flow at 50% of FVC exhaled (FEF50), forced expiratory flow at 75% of FVC exhaled (FEF75), and maximum mid-expiratory flow (MMEF) of the positive provocation group were significantly lower than those of the negative provocation group, and the FeNO level was significantly higher, with statistically significant differences (P<0.05). Further analysis through the ROC curve revealed that MMEF had the highest predictive efficacy for AHR [area under the curve (AUC) =0.88, 95% confidence interval (CI): 0.82-0.94]; when FeNO was combined with pulmonary ventilation function parameters, the combination of MMEF and FeNO had the best predictive efficacy (AUC =0.91, 95% CI: 0.86-0.96), with optimal cut-off values of 67.05% and 20.50 ppb.</p><p><strong>Conclusions: </strong>The combination of FeNO and MMEF can effectively predict AHR in children with chronic cough and has significant clinical value for the differential diagnosis of chronic cough etiology.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1974-1981"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065632","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":"Age at disease onset is an independent risk factor for physical growth of children with idiopathic pulmonary hemosiderosis.","authors":"Siyun Li, Tingting Li, Lanzhi Zhou, Dandan Mou, Meng Sun","doi":"10.21037/tp-2025-263","DOIUrl":"10.21037/tp-2025-263","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary hemosiderosis (IPH), a pediatric pulmonary disorder requiring prolonged corticosteroid therapy raises concerns about growth impairment. While corticosteroid-induced stunting is well-documented, its specific impact on the height of IPH patients remains unclear. This study aimed to evaluate the impact of corticosteroid exposure on height outcomes and identify key predictors of growth restriction in children with IPH.</p><p><strong>Methods: </strong>In this retrospective cohort study, 45 IPH patients [2018-2023] were stratified into normal-stature (n=37) and short-stature (n=8) groups based on anthropometric criteria. Multivariable Cox regression and comparative analyses assessed age at onset, diagnostic delay, corticosteroid duration, nutritional parameters, pulmonary function, and growth hormone (GH) therapy efficacy.</p><p><strong>Results: </strong>Short-stature patients demonstrated an earlier disease onset (P=0.004) and prolonged diagnostic delay (P=0.002). A younger age at onset independently predicted impaired height growth [hazard ratio (HR) =0.435, 95% confidence interval (CI): 0.206-0.920, P=0.02], while corticosteroid duration showed no association (P=0.45). Secondary analyses identified synergistic effects of anemia (P=0.02), malnutrition (P=0.045), and pulmonary fibrosis (P=0.008). GH therapy significantly improved height velocity (P<0.001) and bone metabolism markers (P<0.05).</p><p><strong>Conclusions: </strong>Early IPH onset, rather than corticosteroid exposure, drives growth impairment in children. Timely diagnosis, nutritional optimization, and adjunctive GH therapy may mitigate height deficits, underscoring the significance of multidisciplinary management strategies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1961-1973"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065595","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 characterization of primary intestinal lymphangiectasia in infants and young children: a single-center retrospective analysis in China.","authors":"Dongdan Li, Tianzhuo Zhang, Xiaolin Ye, Feihong Yu, Dexiu Guan, Hongmei Huang, Jie Wu","doi":"10.21037/tp-2025-187","DOIUrl":"10.21037/tp-2025-187","url":null,"abstract":"<p><strong>Background: </strong>Little is known about primary intestinal lymphangiectasia (PIL) in Chinese children. Insufficient awareness can lead to delayed diagnosis and treatment, which may adversely affect the prognosis of affected children. This study aimed to investigate the clinical features and treatment outcomes for PIL in infants and young children in China, providing a basis for clinical diagnosis and treatment.</p><p><strong>Methods: </strong>This is a single-center retrospective study. The clinical information of children was gathered and a retrospective analysis was conducted on the clinical manifestations, potential complications, nutritional conditions, laboratory findings, imaging tests, endoscopic and pathological assessments, treatment outcomes, and other relevant parameters of infants and young children diagnosed with PIL.</p><p><strong>Results: </strong>A total of 42 cases of infants and young children with PIL were analyzed, and it was found that PIL was most frequently diagnosed in infants under 1 year of age (95.2%). All of the children presented with diarrhoea. Other manifestations were limb edema in 37 cases (88.1%) and lymphatic effusions in 20 cases (47.6%). Tetany and generalized convulsions were reported in 35.7% of children, with a high prevalence. Concurrent infections were identified in 73.8% of cases, primarily respiratory infections and sepsis. Ten children (23.8%) were malnourished at their initial visit, presenting with stunting, wasting and underweight status. Anemia (54.8%) and electrolyte imbalances (100%) were prevalent, particularly hypomagnesemia (88.1%). Imaging studies revealed intestinal protein loss, predominantly in the jejunum and above. The predominant endoscopic appearance was of scattered white snowflakes or granules in the duodenum. Some patients with normal endoscopic duodenal findings showed typical lymphatic dilatation on histopathology. Treatment involved diet and nutrition adjustment, albumin infusion, electrolyte correction and anti-infective therapy, resulting in improvement in 39 cases and ineffectiveness in 3 cases upon evaluation.</p><p><strong>Conclusions: </strong>In our cohort of infants and young children, PIL was mainly diagnosed in infants under 1 year of age (95.2%). The main symptoms were diarrhea (100%) and edema (88.1%). There was a notable prevalence of limb convulsions (35.7%), anemia (54.8%) and hypomagnesemia (88.1%). The majority of infants and toddlers (92.9%) diagnosed with PIL showed positive outcomes with dietary and pharmacological intervention.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1896-1907"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065660","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":"Identification of potential necroinflammation-associated necroptosis-related biomarkers in necrotizing enterocolitis based on bioinformatics analysis and machine learning.","authors":"Jing Zhu, Xiaochen Qu, Liu Yang, Yuqian Wang, Zhengjuan Liu","doi":"10.21037/tp-2025-247","DOIUrl":"10.21037/tp-2025-247","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing enterocolitis (NEC) stands as one of the most lethal conditions afflicting premature infants. There is a close relationship between necroptosis, necroinflammation, and the potential mechanisms of NEC. The purpose of this study was to investigate the mechanism of necroinflammation-associated necroptosis-related genes (NiNRGs) in NEC, identify NiNRGs-related diagnostic markers for NEC, and construct a diagnostic model for NEC through bioinformatics analysis and machine learning.</p><p><strong>Methods: </strong>Differentially expressed NiNRGs (DE-NiNRGs) were identified through differential expression and correlation analysis, followed by gene set enrichment analysis (GSEA) and protein-protein interaction (PPI) network establishment. Three machine learning methods were used to find potential diagnostic biomarkers, evaluated through a receiver operating characteristic (ROC) curve and a nomogram model. Immune infiltration scores for 28 immune cell types in NEC were calculated, along with correlation coefficients for diagnostic marker genes. Various databases predicted interactions between these genes, small molecule drugs, microRNAs, and transcription factors. A single-gene GSEA (sgGSEA) identified significantly enriched signaling pathways associated with diagnostic marker genes in NEC.</p><p><strong>Results: </strong>A total of 29 DE-NiNRGs were identified, linked to 17 pathways, including tumor necrosis factor (TNF), interleukin (IL)-17, and cytosolic DNA-sensing pathways. The PPI network showed close interactions among DE-NiNRGs. Three biomarkers, <i>DAPK1</i>, <i>PARP1</i>, and <i>BIRC3</i>, were selected using machine learning, showing area under the curve (AUC) values ≥0.8 in ROC analysis. The nomogram indicated significant diagnostic score differences between NEC and healthy controls. Type 2 T helper (Th2) cell infiltration differed significantly between NEC and controls, with <i>DAPK1</i> and <i>BIRC3</i> expression correlating with immune cells. Transcription factors, microRNAs, and small molecule drugs regulating these markers were identified, and sgGSEA revealed 198, 240, and 217 pathways for <i>DAPK1</i>, <i>PARP1</i>, and <i>BIRC3</i>, respectively.</p><p><strong>Conclusions: </strong>Necroinflammation-induced necroptosis significantly contributes to the progression of NEC. <i>DAPK1</i>, <i>PARP1</i>, and <i>BIRC3</i> demonstrate substantial diagnostic potential for the condition. Employing bioinformatics to explore potential mechanisms aids in elucidating the genetic pathogenesis of NEC and offers valuable insights for future investigations.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1746-1760"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065678","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":"Novel variants in <i>ZNF462</i> and phenotype update in patients with Weiss-Kruszka syndrome: a case series.","authors":"Wan Huai, Juan Li, Xin Li, Yu Ding, Tingting Yu, Hao Zhang, Xiumin Wang, Ruen Yao","doi":"10.21037/tp-2025-274","DOIUrl":"10.21037/tp-2025-274","url":null,"abstract":"<p><strong>Background: </strong>Weiss-Kruszka syndrome (WSKA) is a neurodevelopmental disorder caused by loss-of-function variants in <i>ZNF462</i>, a zinc-finger transcription factor critical for embryonic morphogenesis. Characterized by intellectual disability, facial dysmorphism, muscle tone abnormalities, and congenital malformations, WSKA exhibits significant phenotypic heterogeneity. Despite over 40 cases reported globally, existing studies rarely report the clinical manifestations of this disease in Chinese patients.</p><p><strong>Case description: </strong>Six patients harboring pathogenic <i>ZNF462</i> variants were included and clinically evaluated at Shanghai Children's Medical Center. Comprehensive phenotyping included detailed dysmorphology assessments, neurodevelopmental testing, and targeted organ system evaluations. Whole-exome sequencing (WES) with Sanger confirmation identified pathogenic <i>ZNF462</i> variants. Additionally, phenotypic data from prior published cases were systematically reviewed. WES confirmed the diagnosis of WSKA in six patients from five pedigrees, revealing five novel <i>ZNF462</i> variants. Phenotypic information in our Chinese patient cohort revealed similar neurodevelopmental abnormalities and dysmorphic facial features. Other clinical features, including growth hormone deficiency, limb anomalies, and abnormal gonadal development, were also observed within different individuals in our cohort, suggesting phenotypic variability and heterogeneity among different ethnic origins.</p><p><strong>Conclusions: </strong>Identifying novel pathogenic variants in <i>ZNF462</i> and compiling a comprehensive clinical phenotype spectrum of patients could provide crucial information for the precise diagnosis and treatment of WSKA in Han Chinese individuals. Our findings underscore the necessity of ethnicity-specific diagnostic criteria.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1991-2000"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065685","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}