Frontiers in Pediatrics最新文献

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The clinical features and initial pharmacotherapeutic options of children with Tic disorders. 抽动障碍患儿的临床特点及初步药物治疗选择。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-17 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1636110
Yuxin Xiang, Chang Tong, Dan Sun, Zhisheng Liu
{"title":"The clinical features and initial pharmacotherapeutic options of children with Tic disorders.","authors":"Yuxin Xiang, Chang Tong, Dan Sun, Zhisheng Liu","doi":"10.3389/fped.2025.1636110","DOIUrl":"10.3389/fped.2025.1636110","url":null,"abstract":"<p><strong>Purpose: </strong>Tic disorders (TD) are common childhood neurodevelopmental conditions, characterized by diverse manifestations, leading to misdiagnosis and delayed therapy. Timely identification of TD and access to care can improve clinical outcomes. This retrospective study characterizes clinical features and initial pharmacotherapy in newly diagnosed pediatric TD.</p><p><strong>Method: </strong>This retrospective cohort study included 805 newly diagnosed pediatric TD patients. Tic severity was assessed using the Yale Global Tic Severity Scale (YGTSS), with patients stratified into mild (YGTSS scores < 25), moderate (25-50), and severe (>50) groups. Chi-square tests/Fisher-exact tests and Wilcoxon rank-sum tests compared group differences in baseline characteristics. Multivariate analyses identified factors associated with tic severity, and logistic regression analyses identified predictors of pharmacotherapy initiation.</p><p><strong>Results: </strong>In 805 subjects, 73.43%, 11.18% and 15.39% were classified into provisional tic disorder, chronic tic disorder, and Tourette syndrome (TS). The prevalence of comorbid attention-deficit/hyperactivity disorder (ADHD) was higher in moderate (21.45%) and severe (36.36%) groups than in the mild group (15.60%). The diagnosis of Tourette syndrome (aOR = 1.40, 95% CI: 1.23-160.31), age at onset (aOR = 1.63, 95% CI: 1.22-2.18), and age at diagnosis (aOR = 1.63, 95% CI: 1.22-2.17), comorbid ADHD (aOR = 7.12, 95% CI: 1.39-36.43) were positively associated with greater tic severity. Clonidine patch (CAP) and traditional Chinese medicine (TCM) were the most common choices initial pharmacotherapy in newly diagnosed pediatric TD. Scores of YGTSS, comorbid ADHD predicted treatment initiation.</p><p><strong>Conclusions: </strong>This study contributed insights into the clinical profiles across tic severity and pharmacotherapeutic approaches in newly diagnosed pediatric TD. The findings highlighted the independent associations between baseline factors and tic severity, as well as the predictors of pharmacotherapy initiation. CAP and TCM served as the most common choices in newly diagnosed pediatric TD.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1636110"},"PeriodicalIF":2.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: A rare case of acute herbicide poisoning induced pediatric acute osteofascial compartment syndrome. 病例报告:一例罕见的急性除草剂中毒致小儿急性骨筋膜室综合征。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-17 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1603429
Xueping Shi, Xin Wang, Pei Guo
{"title":"Case Report: A rare case of acute herbicide poisoning induced pediatric acute osteofascial compartment syndrome.","authors":"Xueping Shi, Xin Wang, Pei Guo","doi":"10.3389/fped.2025.1603429","DOIUrl":"10.3389/fped.2025.1603429","url":null,"abstract":"<p><p>Acute osteofascial compartment syndrome (AOCS) is rarely seen in patients with acute herbicide poisoning, and no cases have been reported in children. The correct treatment approach is of vital importance. We report a case of a 13-year-old girl who was admitted to our hospital 17 h after oral ingestion of \"diquat\" (a herbicide), and developed clinical symptoms of AOCS 21 h later. The girl was treated with measures such as removing the toxins, using mannitol for dehydration, and elevating the affected limb. The patient's AOCS progressed relentlessly; on hospital day 4, after failure of conservative management, she underwent decompressive surgical fasciotomy (DSF) of the lower legs. The girl responded well to continuous renal replacement therapy (CRRT) and continuous fascial decompression treatment. On hospital day 25, she underwent debridement and suture surgery on both lower legs. At discharge, the girl's lower legs bilateral suture incisions were healing well, and the affected legs could stand. Two months later, the girl was able to walk independently.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1603429"},"PeriodicalIF":2.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The effect of intrapartum maternal fever on neonatal outcomes: a systematic review and meta-analysis. 产时产妇发热对新生儿结局的影响:一项系统回顾和荟萃分析。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-17 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1571732
Qian Ling, Haixia Wan
{"title":"The effect of intrapartum maternal fever on neonatal outcomes: a systematic review and meta-analysis.","authors":"Qian Ling, Haixia Wan","doi":"10.3389/fped.2025.1571732","DOIUrl":"10.3389/fped.2025.1571732","url":null,"abstract":"<p><strong>Objective: </strong>To systematically review the link between intrapartum maternal fever and adverse neonatal outcomes in term singleton pregnancies not complicated by chorioamnionitis.</p><p><strong>Methods: </strong>The PubMed, Web of Science, Scopus, and Embase databases were searched for studies published up to June 30, 2024, that reported data on women with term singleton pregnancies and intrapartum fever. Studies describing cases of chorioamnionitis (CAM) were excluded. The included studies had to have defined exclusion criteria to ensure that women with a high likelihood of CAM were excluded. Neonatal outcomes of interest were infection/sepsis, fetal distress, assisted ventilation, low APGAR scores, neonatal intensive care unit (NICU) admission, seizures, and hypotonia. Study quality was assessed by the Newcastle-Ottawa Scale (NOS). A random-effects model was used to pool effect sizes, which were reported as odds ratios (OR) and weighted mean differences (WMD). Funnel plots and Egger's test were used to assess publication bias.</p><p><strong>Results: </strong>A total of 11 studies (<i>n</i> = 153,410) were included. Neonates born to mothers with intrapartum fever had a higher risk of low APGAR scores (OR 2.97, 95% CI: 1.61, 5.48), need for assisted ventilation (OR 2.50, 95% CI: 1.59, 3.93), infection/sepsis (OR 6.01, 95% CI: 2.68, 13.5), NICU admission (OR 2.77, 95% CI: 1.40, 5.51), seizures (OR 4.25, 95% CI: 1.95, 9.22), and hypotonia (OR 4.19, 95% CI: 1.72, 10.2). The birth weight of neonates delivered by febrile mothers was significantly higher (WMD 63.4 g, 95% CI: 16.2, 110.5). Publication bias was noted for low APGAR scores and neonatal infection/sepsis.</p><p><strong>Conclusion: </strong>Intrapartum maternal fever appears to be associated with increased risks of adverse neonatal outcomes. However, the challenge of entirely excluding CAM-related fever and variability in study methodologies limits the robustness of the findings. Nonetheless, proactive management of maternal fever during labor could be critical.</p><p><strong>Systematic review registration: </strong>https://www.crd.york.ac.uk/PROSPERO/view/CRD42024565830, PROSPERO CRD42024565830.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1571732"},"PeriodicalIF":2.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Renal compression caused by a giant retroperitoneal appendiceal abscess in a child: a rare case report and literature review. 儿童腹膜后巨大阑尾脓肿致肾受压:罕见病例报告及文献复习。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-17 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1630370
Yuan-Fei He, Shi-Qin Qi, Jian Bian, Cheng-Xiao Zhou, Yong-Peng Duan
{"title":"Renal compression caused by a giant retroperitoneal appendiceal abscess in a child: a rare case report and literature review.","authors":"Yuan-Fei He, Shi-Qin Qi, Jian Bian, Cheng-Xiao Zhou, Yong-Peng Duan","doi":"10.3389/fped.2025.1630370","DOIUrl":"10.3389/fped.2025.1630370","url":null,"abstract":"<p><strong>Objective: </strong>To enhance understanding of the diagnosis and management of retroperitoneal appendiceal abscesses in children.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data and surgical approach of a pediatric patient with renal compression caused by a giant retroperitoneal appendiceal abscess, treated in the Department of Pediatric Surgery at our Hospital. A review of the relevant literature was also performed.</p><p><strong>Results: </strong>After confirming the diagnosis of a retroperitoneal appendiceal abscess through comprehensive abdominal examinations, the patient successfully underwent retroperitoneal percutaneous catheter drainage under ultrasound guidance. The procedure lasted 25 min, with approximately 300 ml of pus drained intraoperatively. Post-drainage, the patient's fever and abdominal pain significantly improved. The patient was discharged in good condition after a 12-day postoperative hospital stay, with a recommendation to undergo appendectomy 3 months later.</p><p><strong>Conclusion: </strong>This case provides valuable insight into the diagnosis and surgical management of retroperitoneal appendiceal abscesses in children. For patients presenting with retroperitoneal abscesses, it is crucial to actively investigate appendiceal origin as a potential cause.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1630370"},"PeriodicalIF":2.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12483999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: Air-fluid point: a specific ultrasound sign for the diagnosis of hydropneumothorax in newborn infants. 病例报告:气液点:诊断新生儿气胸的特殊超声征象。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-16 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1637262
Jing Liu, Peng Jiang
{"title":"Case Report: Air-fluid point: a specific ultrasound sign for the diagnosis of hydropneumothorax in newborn infants.","authors":"Jing Liu, Peng Jiang","doi":"10.3389/fped.2025.1637262","DOIUrl":"10.3389/fped.2025.1637262","url":null,"abstract":"<p><p>Currently, lung ultrasound (LUS) is widely used worldwide for the diagnosing conditions such as neonatal pneumothorax (PTX) and pleural effusion, which are both common conditions during the neonatal period. However, the coexistence or simultaneous occurrence of both conditions, namely, hydropneumothorax, is relatively rare in clinical practice. Ultrasound enables a reliable diagnosis and can be used to guide and monitor appropriate treatment. In this case report, we describe a new ultrasound sign, the air-fluid point, which we propose as a specific sign for the diagnosis of neonatal hydropneumothorax.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1637262"},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Applications of artificial intelligence in early childhood health management: a systematic review from fetal to pediatric periods. 人工智能在儿童早期健康管理中的应用:从胎儿期到儿科期的系统综述。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-16 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1613150
Qingsong Wang, Jun Yin, Xiaomeng Zhang, Huimin Ou, Fuyan Li, Yundong Zhang, Weiyi Wan, Caiyu Guo, Yongyu Cao, Tongyong Luo, Xianmin Wang
{"title":"Applications of artificial intelligence in early childhood health management: a systematic review from fetal to pediatric periods.","authors":"Qingsong Wang, Jun Yin, Xiaomeng Zhang, Huimin Ou, Fuyan Li, Yundong Zhang, Weiyi Wan, Caiyu Guo, Yongyu Cao, Tongyong Luo, Xianmin Wang","doi":"10.3389/fped.2025.1613150","DOIUrl":"10.3389/fped.2025.1613150","url":null,"abstract":"<p><strong>Background: </strong>The integration of artificial intelligence (AI) into early childhood health management has expanded rapidly, with applications spanning the fetal, neonatal, and pediatric periods. While numerous studies report promising results, a comprehensive synthesis of AI's performance, methodological quality, and translational readiness in child health is needed.</p><p><strong>Objectives: </strong>This systematic review aims to evaluate the current landscape of AI applications in fetal and pediatric care, assess their diagnostic accuracy and clinical utility, and identify key barriers to real-world implementation.</p><p><strong>Methods: </strong>A systematic literature search was conducted in PubMed, Scopus, and Web of Science for studies published between January 2021 and March 2025. Eligible studies involved AI-driven models for diagnosis, prediction, or decision support in individuals aged 0-18 years. Study selection followed the PRISMA 2020 guidelines. Data were extracted on application domain, AI methodology, performance metrics, validation strategy, and clinical integration level.</p><p><strong>Results: </strong>From 4,938 screened records, 133 studies were included. AI models demonstrated high performance in prenatal anomaly detection (mean AUC: 0.91-0.95), neonatal intensive care (e.g., sepsis prediction with sensitivity up to 89%), and pediatric genetic diagnosis (accuracy: 85%-93% using facial analysis). Deep learning enhanced consistency in fetal echocardiography and ultrasound interpretation. However, 76% of studies used single-center retrospective data, and only 21% reported external validation. Performance dropped by 15%-20% in cross-institutional settings. Fewer than 5% of models have been integrated into routine clinical workflows, with limited reporting on data privacy, algorithmic bias, and clinician trust.</p><p><strong>Conclusion: </strong>AI holds transformative potential across the pediatric continuum of care-from fetal screening to chronic disease management. However, most applications remain in the research phase, constrained by data heterogeneity, lack of prospective validation, and insufficient regulatory alignment. To advance clinical adoption, future efforts should focus on multicenter collaboration, standardized data sharing frameworks, explainable AI, and pediatric-specific regulatory pathways. This review provides a roadmap for clinicians, researchers, and policymakers to guide the responsible translation of AI in child health.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1613150"},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome. 病例报告:Treacher Collins综合征中TCOF1基因的一种新的杂合变异。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-16 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1615309
Lijuan Zhang, Fei Wang, Yanfang Zhu, Hongxiao Zhang, Yahong Liu
{"title":"Case Report: A novel heterozygous variant of the <i>TCOF1</i> gene in Treacher Collins syndrome.","authors":"Lijuan Zhang, Fei Wang, Yanfang Zhu, Hongxiao Zhang, Yahong Liu","doi":"10.3389/fped.2025.1615309","DOIUrl":"10.3389/fped.2025.1615309","url":null,"abstract":"<p><p>Treacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis. While pathogenic variants in <i>POLR1B</i>, <i>POLR1C</i>, and <i>POLR1D</i> are implicated, the <i>TCOF1</i> gene represents the primary causative locus. This case report describes a novel heterozygous frameshift variant, <i>TCOF1</i>:NM_001135243.2:c.3559delG (p.Ala1187GlufsTer21), identified in a child with TCS. This truncation disrupts the C-terminal nuclear localization signal (NLS), specifically ablating a phosphorylation site at residues 1,199-1,200. Consequently, ribosome biosynthesis and craniofacial neural crest cell development are impaired, culminating in characteristic clinical manifestations, including downslanting palpebral fissures, depressed nasal bridge, marked malar hypoplasia, mandibular hypoplasia, and microtia. Although the mother carried the same variant, she exhibited no clinical symptoms, suggesting incomplete penetrance. This variant is the first internationally reported instance. Its identification reinforces the central pathogenic role of <i>TCOF1</i> in TCS, underscores the functional significance of the treacle protein's NLS, and expands the variant database. Penetrance variability complicates genetic counseling, necessitating future research into its genetic characteristics to enhance prenatal diagnostic accuracy.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1615309"},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Development of a nomogram for predicting postoperative Hirschsprung-associated enterocolitis. 预测术后先天性巨结肠相关小肠结肠炎的nomogram。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-16 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1640331
Weijun Zheng, Weiming Chen, Fei Chen, Yunjin Wang, Lanxin Zhu, Mingkun Liu
{"title":"Development of a nomogram for predicting postoperative Hirschsprung-associated enterocolitis.","authors":"Weijun Zheng, Weiming Chen, Fei Chen, Yunjin Wang, Lanxin Zhu, Mingkun Liu","doi":"10.3389/fped.2025.1640331","DOIUrl":"10.3389/fped.2025.1640331","url":null,"abstract":"<p><strong>Objectives: </strong>To analyze the risk factors for postoperative Hirschsprung-associated enterocolitis (HAEC) and establish a nomogram to predict the incidence of HAEC.</p><p><strong>Methods: </strong>All patients with Hirschsprung disease who underwent definitive surgery at Fujian Provincial Children's Hospital from January 2015 to December 2023 were included in the study. Univariate and multivariate logistic regression were used to analyze the influencing factors of chylous ascites and a nomogram was established. The predictive performance of the nomogram was evaluated using receiver operating characteristic (ROC) curves, calibration plots, and decision curve analysis (DCA) curves.</p><p><strong>Results: </strong>Of the included 204 patients, 53 patients (25.9%) experienced postoperative HAEC. Preoperative HAEC, the type of HSCR (long-segment or total colonic aganglionosis), no-preoperative bowel preparation, and anastomotic leaks or strictures were considered important risk factors. The area under the ROC curve of the model is 0.79, the nomogram has great discriminative ability, calibration and significant clinical utility.</p><p><strong>Conclusion: </strong>We found a nomogram for predicting the postoperative HAEC. It can be used as a reference for risk assessment and early detection of postoperative HAEC.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1640331"},"PeriodicalIF":2.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report. 以RUNX2杂合突变为特征的中国早产儿锁骨颅内发育不良伴脑梗死1例。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-15 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1643266
Wuyun Zhao, Yanbin An, Xiaoyan Zhang, Na Zhuo, Cheng Cai, Gaowa Arigong
{"title":"A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report.","authors":"Wuyun Zhao, Yanbin An, Xiaoyan Zhang, Na Zhuo, Cheng Cai, Gaowa Arigong","doi":"10.3389/fped.2025.1643266","DOIUrl":"10.3389/fped.2025.1643266","url":null,"abstract":"<p><strong>Introduction: </strong>Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with a low incidence rate. This study reports the first documented case in Inner Mongolia, involving a premature male newborn with a history of birth asphyxia and cerebral infarction. The patient exhibited characteristic clinical features, including abnormal cranial suture palpation, hypertelorism, depressed nasal bridge, and shortened limbs, leading to genetic testing that identified a heterozygous mutation in the RUNX2 gene-the known cause of CCD.</p><p><strong>Methods: </strong>Clinical examination included detailed physical assessment, cranial MRI, CT scan with 3D reconstruction, and chest X-ray. Genetic analysis was performed to detect mutations in the RUNX2 gene. Imaging results revealed significantly widened cranial sutures, open fontanelles, partial skull defects, right clavicular hypoplasia, and reduced bone density.</p><p><strong>Conclusion: </strong>Genetic testing confirmed a heterozygous pathogenic variant in the RUNX2 gene, consistent with a diagnosis of cleidocranial dysplasia. This case represents the first reported instance of CCD in Inner Mongolia.</p><p><strong>Discussion: </strong>This case underscores the importance of recognizing the clinical and genetic features of RUNX2-related CCD to facilitate early and accurate diagnosis. The findings aim to enhance clinical awareness of this rare condition, particularly in regions where it has not been previously reported, and to promote timely intervention and genetic counseling.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1643266"},"PeriodicalIF":2.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
"You're listening but you're not hearing": qualitative exploration of parents' lived experience of paediatric sepsis. “你在听,但你没有听到”:对儿童败血症父母生活经历的定性探索。
IF 2 3区 医学
Frontiers in Pediatrics Pub Date : 2025-09-15 eCollection Date: 2025-01-01 DOI: 10.3389/fped.2025.1655224
Meagan O'Keefe, Liz Crowe, Paula Lister, Luregn J Schlapbach, Megan Simons
{"title":"\"You're listening but you're not hearing\": qualitative exploration of parents' lived experience of paediatric sepsis.","authors":"Meagan O'Keefe, Liz Crowe, Paula Lister, Luregn J Schlapbach, Megan Simons","doi":"10.3389/fped.2025.1655224","DOIUrl":"10.3389/fped.2025.1655224","url":null,"abstract":"<p><strong>Background: </strong>Sepsis is a life-threatening condition of significant mortality and morbidity burden in children. There is limited evidence exploring the lived experiences of parents whose children have survived or died from sepsis, nor their support needs, despite growing awareness of poor sepsis outcomes.</p><p><strong>Objective: </strong>This study aims to understand the lived experiences of parents of children affected by sepsis, both surviving and bereaved, and identify gaps in support services to inform future interventions.</p><p><strong>Methods: </strong>A phenomenological-hermeneutic design was used, with data collected through a focus group and individual interviews with 11 parents of children treated for paediatric sepsis in Queensland, Australia. Reflexive thematic analysis was used to analyse the data.</p><p><strong>Results: </strong>Four themes were generated that present an in-depth understanding of parents' lived experiences of having a child with sepsis and what their support needs are: 1. <i>Rupture of Life as We Knew It</i>-parents experienced a distinct rupture between life before and after their child's sepsis diagnosis, often accompanied by trauma and grief; 2. <i>Navigating in the Dark</i>-parents described feeling confused and isolated, driven by a lack of awareness about sepsis, inadequate communication from healthcare providers, and limited access to specialised support; 3. <i>The Weight of 'What If'</i>-guilt, regret and disillusionment with the healthcare system were common among parents, particularly regarding missed early warning signs and opportunities for intervention; and 4. <i>Call for Change</i>-parents advocated for improved public and professional education about paediatric sepsis, trauma-informed communication from healthcare professionals, and the development of structured, specialised support networks.</p><p><strong>Conclusion: </strong>Parents of children affected by sepsis experience profound distress and isolation, compounded by a lack of awareness, inadequate communication, and limited specialised support services. They identified that urgent action is needed to develop paediatric sepsis-specific family support networks, enhance public and clinical education, and implement trauma-informed care to reduce the burden of sepsis on all families.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1655224"},"PeriodicalIF":2.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12478235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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