Translational pediatrics最新文献

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Development and validation of a prognostic prediction model based on coagulation-related genes and clinical factors in acute leukemia. 基于急性白血病凝血相关基因和临床因素的预后预测模型的建立和验证。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-08-31 Epub Date: 2025-08-27 DOI: 10.21037/tp-2025-118
Tian Lan, Yi Zhan, Yong Chen, Haihong Gao
{"title":"Development and validation of a prognostic prediction model based on coagulation-related genes and clinical factors in acute leukemia.","authors":"Tian Lan, Yi Zhan, Yong Chen, Haihong Gao","doi":"10.21037/tp-2025-118","DOIUrl":"10.21037/tp-2025-118","url":null,"abstract":"<p><strong>Background: </strong>Acute leukemia (AL) is one of the most prevalent pediatric malignancies with highly heterogeneous clinical outcomes. Coagulation-related genes (CRGs) play a crucial role in tumours, but their value in combination with clinical factors for prognostic prediction in AL is unclear. This study aims to develop a prognostic model based on the CRGs signature, with the goal of improving prognostic monitoring and identifying potential therapeutic targets for pediatric AL.</p><p><strong>Methods: </strong>We collected transcriptomic and clinical data of pediatric AL patients from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) and The Cancer Genome Atlas (TCGA) databases, including age, gender, and white blood cell count (WBC). Molecular subtypes related to CRGs were identified via non-negative matrix factorization (NMF). A CRGs-based gene signature was developed using the least absolute shrinkage and selection operator (LASSO) and regression analyses. The model was built on a training set and validated independently. Time-dependent receiver operating characteristic (ROC) was used to assess the predictive accuracy of the model for 1-, 3-, and 5-year overall survival (OS). Nomograms were constructed combining CRGs characteristics and clinical factors, and their clinical utility was assessed using calibration curves and decision curve analysis (DCA). Immune infiltration was quantified using the single-sample gene set enrichment analysis (ssGSEA) and the microenvironment cell populations-counter (MCPcounter) algorithm. Kaplan-Meier (K-M) survival analysis was performed to assess the correlation between signature gene expression and OS. Moreover, molecular docking was utilized to investigate the potential interactions between signature genes and small-molecule drugs. Expression of key genes was confirmed by quantitative reverse transcription polymerase chain reaction (qRT-PCR).</p><p><strong>Results: </strong>A total of 103 AL patients were included as a training set. Risk stratification based on the median risk score of CRGs showed a significant difference in OS between the two groups (P<0.001), with the low-risk group having a better prognosis. The area under the curves (AUCs) of the model for 1-, 3-, and 5-year survival prediction in the training set were 0.711, 0.762, and 0.718, respectively, and the AUC values in the independent validation set also showed good agreement. Analysis integrating risk scores with clinical data indicated that the CRGs signature could serve as an independent prognostic factor. The nomogram constructed based on CRGs features and key clinical variables showed good fit and potential clinical net effect. Molecular docking analysis revealed stable binding interactions between <i>PROS1</i> and the small-molecule drugs, avatrombopag and lusutrombopag.</p><p><strong>Conclusions: </strong>In this study, a robust prognostic model incorporating CRGs was constructed to effectiv","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1932-1951"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065661","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}
引用次数: 0
Formation of gut microbiota and application of microecological regulators in children. 儿童肠道菌群的形成及微生态调节剂的应用。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-08-31 Epub Date: 2025-08-25 DOI: 10.21037/tp-2025-303
Mingxin He, Lei Liu, Yue Li, Zhi Guo
{"title":"Formation of gut microbiota and application of microecological regulators in children.","authors":"Mingxin He, Lei Liu, Yue Li, Zhi Guo","doi":"10.21037/tp-2025-303","DOIUrl":"10.21037/tp-2025-303","url":null,"abstract":"<p><p>The initial bacteria in a newborn's gastrointestinal tract come from the mother's birth canal, the environment, and breast milk. Gut microbiota is established earlier in infants delivered naturally than by cesarean section (C-section). Gut microbial diversity increases further as infants reach weaning, with the addition of complementary foods and increased food diversity. Upon reaching adulthood, the composition of the microbiota is relatively stable, with <i>Firmicutes</i>, <i>Bacteroides</i> and <i>Actinomyces</i> as the main microbiota. The development of gut microbiota in children, as well as the potential disruption of newborn gut microbiota development by antibiotics, necessitates the development of new nutritional foods to address the challenges of gut microbiota and nutrition in children. Specific probiotic strains may prevent acute gastroenteritis, antibiotic diarrhea, infantile colic, and necrotising enterocolitis (NEC). Microecological preparations such as probiotics are a group of live microorganisms that provide health benefits to the host when given in sufficient quantities, and are mainly categorized into live bacteria in bulk, tablets and capsules. Probiotics are currently widely used in the treatment of gastrointestinal related diseases, and have achieved certain results in clinical practice as a supplement to conventional therapies. However, there are still not many types of microecological preparations that have isolated strains. Finding probiotics that target a particular disease and isolating them is a difficult part of the development of microecological preparations for clinical applications. At present, in the clinical cohort study of children using probiotic preparations, microecological preparations either show their ability to prevent diseases or are mostly used as auxiliary means of traditional therapy. Although there are fewer clinical cohort studies with microecological preparations as the primary treatment, their clinical application will be increasingly promising. This review aims to systematically summarize the formation patterns of gut microbiota in children, analyze the mechanisms of action of microecological regulators, and evaluate their clinical applications in pediatric diseases, thereby providing insights for addressing gut microbiota-related challenges.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"2023-2041"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065767","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}
引用次数: 0
Pathogenicity effects of a COL2A1 missense mutation (c.1594G>C) in cartilage development. COL2A1错义突变(C . 1594g >C)在软骨发育中的致病性作用。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-22 DOI: 10.21037/tp-2025-79
Jingqian Zhou, Tianming Yuan
{"title":"Pathogenicity effects of a <i>COL2A1</i> missense mutation (c.1594G>C) in cartilage development.","authors":"Jingqian Zhou, Tianming Yuan","doi":"10.21037/tp-2025-79","DOIUrl":"10.21037/tp-2025-79","url":null,"abstract":"<p><strong>Background: </strong>The <i>COL2A1</i> gene encodes the α1 chain of type II collagen, a critical structural component in cartilage and the extracellular matrix. Mutations in this gene are associated with type II collagenopathies, including achondrogenesis type II (ACG2), a severe skeletal dysplasia characterized by perinatal lethality. This study aims to identify and characterize the molecular basis of a <i>COL2A1</i> mutation in a patient presenting with ACG2 features and to elucidate the pathogenic mechanism of the mutation.</p><p><strong>Methods: </strong>A newborn with clinical signs of ACG2 underwent whole-exome sequencing (WES) for genetic analysis. Structural modeling was performed using AlphaFold2 to assess the mutation's impact on the collagen triple-helix. Functional studies were conducted using HEK-293 and C28/I2 cells transfected with wild-type or mutant <i>COL2A1</i> to evaluate collagen synthesis and secretion via immunoblotting and ELISA.</p><p><strong>Results: </strong>WES identified a heterozygous missense mutation in <i>COL2A1</i> gene (NM_001844.5: c.1584G>C, p.Glu532Gln). Structural modeling predicted that the mutation disrupted the stability of the triple-helix. Functional assays demonstrated increased synthesis and impaired secretion of type II collagen in cells expressing the mutant <i>COL2A1</i> gene.</p><p><strong>Conclusions: </strong>The identified <i>COL2A1</i> mutation (p.Glu532Gln) may lead to disrupted collagen structure and secretion, contributing to the pathogenesis of ACG2. These findings advance the understanding of <i>COL2A1</i>-related disorders and highlight the molecular mechanisms underlying type II collagenopathies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1511-1519"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837826","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}
引用次数: 0
Case report: diagnostic challenges and long-term survival of a child with bronchial mucoepidermoid carcinoma. 病例报告:诊断挑战和长期生存的儿童支气管粘液表皮样癌。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-28 DOI: 10.21037/tp-2025-235
Bui Ngoc Lan, Nguyen Hoai Anh, Pho Hong Diep, Le Thanh Chuong, Nguyen Van Linh, Vu Van An, Nguyen Ngoc Khoi, Nguyen Ly Thinh Truong, Nguyen Tho Anh, Tran Phan Ninh, Teresa Santiago, Larissa Furtado, Carlos Rodriguez-Galindo
{"title":"Case report: diagnostic challenges and long-term survival of a child with bronchial mucoepidermoid carcinoma.","authors":"Bui Ngoc Lan, Nguyen Hoai Anh, Pho Hong Diep, Le Thanh Chuong, Nguyen Van Linh, Vu Van An, Nguyen Ngoc Khoi, Nguyen Ly Thinh Truong, Nguyen Tho Anh, Tran Phan Ninh, Teresa Santiago, Larissa Furtado, Carlos Rodriguez-Galindo","doi":"10.21037/tp-2025-235","DOIUrl":"10.21037/tp-2025-235","url":null,"abstract":"<p><strong>Background: </strong>Bronchial mucoepidermoid carcinoma (MEC) is a rare pediatric malignant neoplasm of difficult diagnosis.</p><p><strong>Case description: </strong>We report on the case of a 15-year-old patient who presented with cough, fever, left chest pain, and difficulty breathing. A chest computed tomography (CT) scan revealed collapse of the left lung with a solid mass with poorly defined margins located close to the left lung hilum, and another smaller enhancing solid nodule located adjacent to the aortic arch. Biopsy of the lesion revealed a malignant epithelial neoplasm with clear cell morphology, overexpression of TFE3 by immunohistochemistry (IHC), but without TFE3 rearrangement by fluorescence in situ hybridization (FISH) analysis. Transcriptome [RNA sequencing (RNA-seq)] analysis of the specimen was positive for <i>CRTC3::MAML2</i> fusion transcript, and a diagnosis of bronchial MEC was made. The patient received three courses of PLADO (cisplatin and doxorubicin) and three surgeries to remove the tumor completely and is currently in remission for 5 years off therapy.</p><p><strong>Conclusions: </strong>Clinical presentation of bronchial MEC is similar to that of other pulmonary neoplasms. In our challenging case, the identification of <i>CRTC3::MAML2</i> fusion was essential for diagnosis. The successful outcome in this case was made possible by the coordinated efforts of multiple specialties and close consultation for advanced molecular tests.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1700-1707"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837855","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}
引用次数: 0
Dental trauma in children: monitoring, management, and challenges-a narrative review. 儿童牙外伤:监测、管理和挑战。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-28 DOI: 10.21037/tp-2025-243
Yaxin Wang, Xinyuan Wang, Yuanyuan Zhao, Liang Qiao, Lu Ye, Liqun Zhou, Jiajia Zhao
{"title":"Dental trauma in children: monitoring, management, and challenges-a narrative review.","authors":"Yaxin Wang, Xinyuan Wang, Yuanyuan Zhao, Liang Qiao, Lu Ye, Liqun Zhou, Jiajia Zhao","doi":"10.21037/tp-2025-243","DOIUrl":"10.21037/tp-2025-243","url":null,"abstract":"<p><strong>Background and objective: </strong>Traumatic dental injuries (TDIs) in children pose a significant public health challenge, with a global prevalence of 20-30%. These injuries predominantly affect preschool-aged children (1-3 years) due to underdeveloped motor coordination, while school-aged children face risks from sports and accidents. Maxillary central incisors are most commonly involved, often leading to complications such as pulp necrosis, root resorption, and malocclusion, which impair long-term oral function and aesthetics. Socioeconomic disparities exacerbate outcomes, with higher prevalence and severity in low-resource settings. This narrative review synthesizes current evidence on the classification, risk factors, diagnostic advancements, and management strategies for pediatric TDI, focusing on emerging technologies and biologically driven therapies.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted across MEDLINE/PubMed, Scopus, and Web of Science, prioritizing studies from the past decade (2015-2025). Key topics included epidemiology, International Association of Dental Traumatology (IADT) classification, pulp vitality assessment (e.g., laser Doppler flowmetry, pulse oximetry), regenerative endodontics, and preventive interventions.</p><p><strong>Key content and findings: </strong>The IADT guidelines provide a standardized framework for TDI classification and management. Modern diagnostic tools improve accuracy in detecting pulp vitality and root fractures. Bioceramic materials and stem cell-based therapies show promise in preserving pulp vitality and promoting periodontal healing. Preventive strategies, including educational programs and mouthguard policies, demonstrate efficacy in reducing TDI incidence.</p><p><strong>Conclusions: </strong>Pediatric TDI require multidisciplinary management combining accurate diagnosis, biologically driven treatments, and preventive measures. Future research should prioritize longitudinal outcome studies and the integration of artificial intelligence in trauma assessment.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1637-1651"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837870","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}
引用次数: 0
Epidemiological characteristics and trends in the diagnosis and treatment of fungal otitis externa in children. 儿童真菌性外耳炎的流行病学特点及诊治趋势。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-16 DOI: 10.21037/tp-2025-169
Jun Du, Xiaojun Zhan, Yi Liu, Yingxia Lu
{"title":"Epidemiological characteristics and trends in the diagnosis and treatment of fungal otitis externa in children.","authors":"Jun Du, Xiaojun Zhan, Yi Liu, Yingxia Lu","doi":"10.21037/tp-2025-169","DOIUrl":"10.21037/tp-2025-169","url":null,"abstract":"<p><strong>Background: </strong>The clinical features and diagnostic procedures of fungal otitis externa in children have been changed in recent years. This study aimed to summarize and analyze the epidemiological characteristics and evolving trends in the diagnosis and treatment of pediatric fungal otitis externa over a period of 8 years.</p><p><strong>Methods: </strong>A retrospective study was conducted on children diagnosed with fungal otitis externa between January 2016 and December 2023. The cohort was assigned into two groups based on visit time: early-visit [2016-2019] and late-visit [2020-2023]. Comparisons were made regarding visit patterns, diagnostic approaches, treatment strategies, and etiological characteristics.</p><p><strong>Results: </strong>A higher prevalence was noted in male patients (P<0.001). The incidence peaked between July and October, with a significant increase in the third quarter (July-September) compared to other periods (P<0.001). The early-visit group (849 cases) had a significantly greater number of patients than the late-visit group (528 cases, P=0.001), and children in the early-visit group were younger (P<0.001). In the late-visit group, the diagnostic approach shifted from fungal smears to a combination of otoscopy and microbial culture, along with increased use of triamcinolone acetonide and econazole nitrate cream due to their broad-spectrum anti-inflammatory properties.</p><p><strong>Conclusions: </strong>Fungal otitis externa occurs more frequently in male children, with a seasonal peak during summer. A decline in patient numbers was observed in the late-visit group, and the average age of the affected children was higher. Changes in diagnostic methods have influenced treatment strategies, leading to the increased use of triamcinolone acetonide and econazole nitrate cream.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1489-1497"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837884","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}
引用次数: 0
Novel endoplasmic reticulum stress-related gene signature unveils CDKN3 as a prognosticator in neuroblastoma. 新的内质网应激相关基因标记揭示了CDKN3作为神经母细胞瘤的预后因子。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-28 DOI: 10.21037/tp-2025-142
Zhongyuan Li, Lin Lu, Yuren Xia, Qiang Zhao, Baocheng Gong
{"title":"Novel endoplasmic reticulum stress-related gene signature unveils CDKN3 as a prognosticator in neuroblastoma.","authors":"Zhongyuan Li, Lin Lu, Yuren Xia, Qiang Zhao, Baocheng Gong","doi":"10.21037/tp-2025-142","DOIUrl":"10.21037/tp-2025-142","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma (NB) is the most common extracranial solid tumor in children and a major cause of pediatric cancer mortality. This study aims to develop an endoplasmic reticulum (ER) stress-based risk model to evaluate patient prognosis, identify novel therapeutic targets, and predict immunotherapy responses.</p><p><strong>Methods: </strong>NB cases with transcriptome and clinical data were obtained from Gene Expression Omnibus (GEO) and ArrayExpress databases. ER stress-related genes were extracted from GeneCards. Differentially expressed genes (DEGs) were identified to construct an ER stress-related gene signature for prognosis prediction. The predictive ability was assessed using survival analysis, receiver operating characteristic (ROC) curves, and statistical tools. The relationship between the ER stress risk score and clinicopathological features, immune infiltration, and drug sensitivity was evaluated. A predictive nomogram was developed for prognostic accuracy. Immunohistochemistry (IHC) validated the hub gene using NB clinical specimens.</p><p><strong>Results: </strong>A five-gene signature (<i>PINK1</i>, <i>IL7</i>, <i>CDKN3</i>, <i>C1S</i>, <i>MMP9</i>) was established, effectively stratifying patients into high- and low-risk groups with significant differences in overall survival. The model demonstrated robust predictive performance in training and testing datasets. High-risk NB patients exhibited poorer clinicopathological characteristics and a higher likelihood of being unresponsive to immunotherapy. Specific targeted agents were identified for high-risk patients. A nomogram integrating the gene signature and clinical variables enhanced prognostic accuracy. IHC analysis of CDKN3 supported its role as a biomarker for poor prognosis in NB.</p><p><strong>Conclusions: </strong>This five-gene model linked to ER stress can independently forecast NB prognosis and correlates with immune and antitumor agent susceptibility, providing a basis for personalized treatment strategies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1471-1488"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837892","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}
引用次数: 0
Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases. Apert综合征持续妊娠的产前诊断——附2例报告。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-11 DOI: 10.21037/tp-2025-90
Marcela Vitória Galvão Vida, Sérgio Faria Makabe, Gustavo Yano Callado, Taciana Mara Rodrigues da Cunha Caldas, Luis Ronan Marquez Ferreira de Souza, Edward Araujo Júnior, Alberto Borges Peixoto
{"title":"Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases.","authors":"Marcela Vitória Galvão Vida, Sérgio Faria Makabe, Gustavo Yano Callado, Taciana Mara Rodrigues da Cunha Caldas, Luis Ronan Marquez Ferreira de Souza, Edward Araujo Júnior, Alberto Borges Peixoto","doi":"10.21037/tp-2025-90","DOIUrl":"10.21037/tp-2025-90","url":null,"abstract":"<p><strong>Background: </strong>Craniosynostosis, the premature fusion of cranial sutures, may occur in isolated or syndromic forms. Among syndromic craniosynostoses, Apert syndrome is a rare but significant condition, characterized by a triad of multisuture craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and feet. Early prenatal diagnosis is challenging but essential for appropriate counseling and perinatal planning.</p><p><strong>Case description: </strong>We report two cases of prenatal diagnosis of Apert syndrome, confirmed through molecular genetic testing. In the first case, a 32-year-old secundigravida underwent routine ultrasounds that initially revealed no abnormalities. However, at 29 weeks and 6 days, fetal ultrasound demonstrated brachycephaly, a prominent nasal bone, and bilateral syndactyly of the hands and left foot. Fetal exome sequencing identified a heterozygous pathogenic variant in the <i>FGFR2</i> gene [c.755C>G p.(Ser252Trp)], confirming Apert syndrome. Delivery occurred at 38 weeks and 4 days by elective cesarean section, with postpartum intensive care and corrective surgery. In the second case, a 33-year-old secundigravida had suggestive ultrasound findings at 22 weeks and 3 days, including a prominent forehead, moderate ventriculomegaly, and hypertelorism. Bilateral syndactyly became evident in subsequent scans. Fetal exome sequencing confirmed the same <i>FGFR2</i> pathogenic variant. Despite regular follow-up, intrauterine fetal demise occurred at 38 weeks, and delivery was performed via cesarean section.</p><p><strong>Conclusions: </strong>These cases emphasize the importance of detailed fetal imaging, particularly in the third trimester, and the role of genetic testing in confirming syndromic craniosynostoses. Prenatal diagnosis of Apert syndrome enables early parental counseling, delivery planning, and neonatal management, although prognosis can vary significantly.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1684-1690"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837827","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}
引用次数: 0
A new modified endoscopic evaluation system and its diagnostic accuracy of adenoid hypertrophy in children. 一种改进的儿童腺样体肥大的内镜评估系统及其诊断准确性。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-28 DOI: 10.21037/tp-2025-189
Shilei Pu, Mingjun Zhang, Limin Zhao, Xiaoyan Li, Hongming Xu
{"title":"A new modified endoscopic evaluation system and its diagnostic accuracy of adenoid hypertrophy in children.","authors":"Shilei Pu, Mingjun Zhang, Limin Zhao, Xiaoyan Li, Hongming Xu","doi":"10.21037/tp-2025-189","DOIUrl":"10.21037/tp-2025-189","url":null,"abstract":"<p><strong>Background: </strong>In recent years, nasopharyngeal endoscopy has been widely used in the diagnosis of adenoid hypertrophy. A novel, modified evaluation system was introduced to investigate the correlation between adenoid hypertrophy and obstructive sleep apnea (OSA), including ear complications. The diagnostic efficacy of this system was based on and compared with three commonly employed endoscopic adenoid hypertrophy evaluation systems.</p><p><strong>Methods: </strong>This study was a prospective, single-center, observational study. A total of 184 children were recruited from the outpatient department of Otorhinolaryngology Head and Neck Surgery, Shanghai Children's Hospital from January 2023 to December 2023. The adenoid grade was assessed using four endoscopic grading systems: percentage of 4-grade system, Parikh's grading system, airway/choana/eustachian tube (ACE) grading system, and anatomical adjacent of 5-grade system (modified Parikh's grading system). Receiver operating characteristic (ROC) curves obtained from the four endoscopic grading systems were analyzed and compared, and the diagnostic efficacy indexes (such as sensitivity, specificity, and accuracy) were calculated. Furthermore, we assessed the consistency among these results in determining surgical indications and occurrence/development of secretory otitis media within a six-month observation period.</p><p><strong>Results: </strong>Among the different grading systems evaluated, the anatomical adjacent of 5-grade system (modified Parikh's grading system) demonstrated superior specificity, accuracy, and area under the curve (AUC) when compared to surgical indications as the reference standard. The diagnostic efficiency of this 5-grade system in determining the need for surgery in children with OSA was significantly better than either the percentage of 4-grade system or Parikh's grading system (P<0.05). The anatomical adjacent of 5-grade system showed no statistical difference compared with the ACE grading system (P=0.053). When using secretory otitis media as the reference standard, incorporating the anatomical adjacent of 5-grade system for evaluation resulted in increased sensitivity, specificity, accuracy, and AUC, however, no significant difference was observed compared to Parikh's grading system (P=0.49).</p><p><strong>Conclusions: </strong>The anatomical adjacent of the 5-grade system (modified Parikh's grading system) enables a more accurate quantitative evaluation of adenoid hypertrophy during adenoid endoscopy, showing potential for improved diagnosis of progressive otitis media.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1553-1562"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837850","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}
引用次数: 0
Association between platelet-to-lymphocyte ratio and blood urea nitrogen levels in pediatric populations: evidence from the NHANES (2009-2018). 儿科人群血小板与淋巴细胞比率和血尿素氮水平之间的关系:来自NHANES的证据(2009-2018)。
IF 1.7 4区 医学
Translational pediatrics Pub Date : 2025-07-31 Epub Date: 2025-07-28 DOI: 10.21037/tp-2025-193
Jingzhi Wen, Xuanyu Liu, Jingjin Chenwu, Liyuan Yang, Ziteng Zhang, Changqing Sun, Juan Bai, Wenjuan Hu
{"title":"Association between platelet-to-lymphocyte ratio and blood urea nitrogen levels in pediatric populations: evidence from the NHANES (2009-2018).","authors":"Jingzhi Wen, Xuanyu Liu, Jingjin Chenwu, Liyuan Yang, Ziteng Zhang, Changqing Sun, Juan Bai, Wenjuan Hu","doi":"10.21037/tp-2025-193","DOIUrl":"10.21037/tp-2025-193","url":null,"abstract":"<p><strong>Background: </strong>Blood urea nitrogen (BUN) reflects renal function and protein metabolism, while the platelet-to-lymphocyte ratio (PLR) is a common inflammatory marker. Though studied in adults, their relationship with children is unclear. This study aims to explore this association in children aged 12-18 years using National Health and Nutrition Examination Survey (NHANES) 2009-2018 data and evaluate PLR as a potential non-invasive marker for renal function.</p><p><strong>Methods: </strong>Given the physiological differences between children and adults, this study utilized data from the NHANES to explore the association between PLR and BUN levels in a pediatric population. This cross-sectional study used NHANES data collected between 2009 and 2018. A total of 2,086 participants were included after excluding individuals with missing data or an age range beyond 12-18 years.</p><p><strong>Results: </strong>A significant negative correlation between PLR and BUN was found in this study, which remained consistent even after adjusting for a wide range of variables (P<0.001). Subgroup analyses further confirmed the robustness of this association across sex, race, and body mass index categories. Restricted cubic spline analysis revealed a significant non-linear negative association with an inflection point at PLR of 118.45. The decline in BUN levels became more pronounced when PLR exceeded the threshold.</p><p><strong>Conclusions: </strong>This study demonstrated a negative correlation between PLR and BUN levels in children, suggesting that PLR could be used as a potential non-invasive marker for assessing renal function. More large-scale prospective studies are needed to substantiate our findings.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 7","pages":"1593-1601"},"PeriodicalIF":1.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12336924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837854","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}
引用次数: 0
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