Pub Date : 2026-01-20eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1709299
Deng Bi-Ying, Li Jin-Feng, Chen Qin, Li Ning, He Xiao-Guang
A male infant born vaginally with clear amniotic fluid at a gestational age of 24 weeks had Apgar scores of 6 at 1 and 5 min and 7 at 10 min and a birth weight of 600 g. After receiving pulmonary surfactant therapy administered through an endotracheal tube at the local hospital, he continued to exhibit severe respiratory distress and hypoxemia; moreover, obtaining peripheral venous access remained difficult despite mechanical ventilation. Consequently, the neonatal transport team from our hospital was called to assist with treatment and transfer. Upon arrival, the transport team used point-of-care critical ultrasound for dynamic assessment and obtained the following findings: (1) the lung ultrasound assessments excluded pneumothorax and helped optimize the ventilator parameters to achieve patient-ventilator synchrony; (2) endotracheal tube placement was confirmed; (3) cranial ultrasound was performed to screen for intracranial hemorrhage; and (4) ultrasound-guided umbilical arterial and venous catheterization was successfully performed to establish vascular access. Under mechanical ventilation support and continuous monitoring, the infant was successfully transported to our neonatal intensive care unit (NICU), requiring no repeat invasive procedures upon admission and maintaining a stable condition throughout transport. This case demonstrates the effectiveness of point-of-care critical ultrasound for real-time guidance during the resuscitation and transport of extremely preterm infants. By enabling multi-system evaluation that included lung, airway, vascular, and cranial assessments, this approach substantially enhanced management efficiency, reduced complications, and offered reliable technical support for the transport of high-risk neonates.
{"title":"Point-of-care ultrasound-guided resuscitation and transport of an extremely premature infant in a pre-hospital setting: a case report.","authors":"Deng Bi-Ying, Li Jin-Feng, Chen Qin, Li Ning, He Xiao-Guang","doi":"10.3389/fped.2025.1709299","DOIUrl":"10.3389/fped.2025.1709299","url":null,"abstract":"<p><p>A male infant born vaginally with clear amniotic fluid at a gestational age of 24 weeks had Apgar scores of 6 at 1 and 5 min and 7 at 10 min and a birth weight of 600 g. After receiving pulmonary surfactant therapy administered through an endotracheal tube at the local hospital, he continued to exhibit severe respiratory distress and hypoxemia; moreover, obtaining peripheral venous access remained difficult despite mechanical ventilation. Consequently, the neonatal transport team from our hospital was called to assist with treatment and transfer. Upon arrival, the transport team used point-of-care critical ultrasound for dynamic assessment and obtained the following findings: (1) the lung ultrasound assessments excluded pneumothorax and helped optimize the ventilator parameters to achieve patient-ventilator synchrony; (2) endotracheal tube placement was confirmed; (3) cranial ultrasound was performed to screen for intracranial hemorrhage; and (4) ultrasound-guided umbilical arterial and venous catheterization was successfully performed to establish vascular access. Under mechanical ventilation support and continuous monitoring, the infant was successfully transported to our neonatal intensive care unit (NICU), requiring no repeat invasive procedures upon admission and maintaining a stable condition throughout transport. This case demonstrates the effectiveness of point-of-care critical ultrasound for real-time guidance during the resuscitation and transport of extremely preterm infants. By enabling multi-system evaluation that included lung, airway, vascular, and cranial assessments, this approach substantially enhanced management efficiency, reduced complications, and offered reliable technical support for the transport of high-risk neonates.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1709299"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118701","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}
Background: This study evaluates the diagnostic efficacy of next-generation sequencing (NGS) in pediatric patients with suspected pneumonia and unidentified etiologies.
Objective: This retrospective study encompassed pediatric patients with suspected pneumonia, spanning the period from January 2022 to December 2023. Nasal swabs and blood samples were collected for a comprehensive diagnostic panel, including NGS, blood culture, complete blood count, and serum biomarkers.
Methods: Routine diagnostic tests were compared with NGS for turnaround time and diagnostic accuracy. Patients were categorized based on clinical diagnosis into non-pneumonia and pneumonia groups. Logistic regression analysis was performed to identify independent predictors of pneumonia.
Results: NGS provided results within 24 h, significantly faster than conventional bacterial cultures (3-5 days). The positivity rate for pathogen identification increased from 55.3% with traditional methods to 86.2% with NGS (p < 0.05). Serum levels of procalcitonin, creatinine, and C-reactive protein were elevated in pneumonia patients, while albumin levels were decreased. Logistic regression identified C-reactive protein and albumin as independent predictors of pneumonia. The area under the receiver operating characteristic curve for NGS was superior to conventional methods and serum biomarkers alone or in combination.
Conclusion: NGS is a promising tool for rapid and accurate etiologic diagnosis of pneumonia in children. The combination of NGS with albumin levels may serve as an effective screening strategy, potentially enhancing clinical management through earlier intervention and targeted therapy. Further validation in larger cohorts is warranted to establish the clinical utility of this approach.
{"title":"Rapid diagnostic value of next-generation sequencing-based technologies in childhood pneumonia.","authors":"Yanfei Chen, Xiaoli Zhu, Fang Fang, Kaihui Ma, Yanli Zhang, Hongxia Liu","doi":"10.3389/fped.2025.1662367","DOIUrl":"10.3389/fped.2025.1662367","url":null,"abstract":"<p><strong>Background: </strong>This study evaluates the diagnostic efficacy of next-generation sequencing (NGS) in pediatric patients with suspected pneumonia and unidentified etiologies.</p><p><strong>Objective: </strong>This retrospective study encompassed pediatric patients with suspected pneumonia, spanning the period from January 2022 to December 2023. Nasal swabs and blood samples were collected for a comprehensive diagnostic panel, including NGS, blood culture, complete blood count, and serum biomarkers.</p><p><strong>Methods: </strong>Routine diagnostic tests were compared with NGS for turnaround time and diagnostic accuracy. Patients were categorized based on clinical diagnosis into non-pneumonia and pneumonia groups. Logistic regression analysis was performed to identify independent predictors of pneumonia.</p><p><strong>Results: </strong>NGS provided results within 24 h, significantly faster than conventional bacterial cultures (3-5 days). The positivity rate for pathogen identification increased from 55.3% with traditional methods to 86.2% with NGS (<i>p</i> < 0.05). Serum levels of procalcitonin, creatinine, and C-reactive protein were elevated in pneumonia patients, while albumin levels were decreased. Logistic regression identified C-reactive protein and albumin as independent predictors of pneumonia. The area under the receiver operating characteristic curve for NGS was superior to conventional methods and serum biomarkers alone or in combination.</p><p><strong>Conclusion: </strong>NGS is a promising tool for rapid and accurate etiologic diagnosis of pneumonia in children. The combination of NGS with albumin levels may serve as an effective screening strategy, potentially enhancing clinical management through earlier intervention and targeted therapy. Further validation in larger cohorts is warranted to establish the clinical utility of this approach.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1662367"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118726","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}
Pub Date : 2026-01-20eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1742471
Yi Qiao, Jin Dai, Ting Zhuang, Yicong Liu, Xiuzhi Ren
Objective: To evaluate the surgical treatment strategies and clinical efficacy in patients with cutaneous skeletal hypophosphatemia syndrome (CSHS).
Methods: A retrospective analysis was conducted on three cases of CSHS treated at our institution. Clinical data included medical history, physical examination, laboratory tests (hypophosphatemia-related biomarkers and genetic testing), and imaging studies (x-ray and CT). Pre- and postoperative limb deformity correction and functional recovery were assessed.
Results: All three patients presented with multiple skeletal deformities and cutaneous melanocytic nevi. Laboratory tests confirmed persistent hypophosphatemia, while imaging revealed widespread osseous abnormalities and long-bone bowing deformities. Following corrective osteotomy with internal fixation, significant improvement in mechanical alignment was achieved.
Conclusions: Surgical intervention can effectively correct limb deformities, restore biomechanical alignment, and improve function in patients with CSHS. Hence, it represents a critical component of multidisciplinary management.
{"title":"Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series.","authors":"Yi Qiao, Jin Dai, Ting Zhuang, Yicong Liu, Xiuzhi Ren","doi":"10.3389/fped.2025.1742471","DOIUrl":"10.3389/fped.2025.1742471","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the surgical treatment strategies and clinical efficacy in patients with cutaneous skeletal hypophosphatemia syndrome (CSHS).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on three cases of CSHS treated at our institution. Clinical data included medical history, physical examination, laboratory tests (hypophosphatemia-related biomarkers and genetic testing), and imaging studies (x-ray and CT). Pre- and postoperative limb deformity correction and functional recovery were assessed.</p><p><strong>Results: </strong>All three patients presented with multiple skeletal deformities and cutaneous melanocytic nevi. Laboratory tests confirmed persistent hypophosphatemia, while imaging revealed widespread osseous abnormalities and long-bone bowing deformities. Following corrective osteotomy with internal fixation, significant improvement in mechanical alignment was achieved.</p><p><strong>Conclusions: </strong>Surgical intervention can effectively correct limb deformities, restore biomechanical alignment, and improve function in patients with CSHS. Hence, it represents a critical component of multidisciplinary management.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1742471"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118685","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}
Pub Date : 2026-01-20eCollection Date: 2026-01-01DOI: 10.3389/fped.2026.1759262
Cheng Yang, Yang Wen, Peijin He, Yanling Dong, Yunjie Feng
Introduction: Toxic Epidermal Necrolysis (TEN) is a life-threatening dermatologic emergency, with particularly high morbidity and mortality in children due to their vulnerable skin barrier and propensity for systemic complications. When TEN is further complicated by respiratory failure, the competing demands of airway management and skin preservation pose a significant therapeutic challenge.
Case report: We report a case of a 6-year-old boy with TEN involving 70% body surface area and concurrent respiratory failure. The patient required endotracheal intubation and mechanical ventilation, which exacerbated facial skin injury. A structured, multidisciplinary, and phased nursing protocol was implemented, integrating respiratory support with meticulous skin, ocular, oral, and urogenital care.
Interventions & outcomes: A coordinated team comprising pediatric intensive care, dermatology, infectious diseases, and nutrition specialists guided management. Skin care was staged according to wound healing phases, utilizing non-adhesive dressings, topical recombinant bovine basic fibroblast growth factor (bFGF) gel, and innovative tube-securement techniques. Systemic and mucosal care protocols were rigorously applied. The patient achieved complete re-epithelialization by day 35, was successfully extubated, and discharged in stable condition on day 46 with no major sequelae.
Conclusion: This case demonstrates that a structured, phase-based, and multidisciplinary nursing approach can effectively balance life-sustaining interventions with tissue preservation in severe pediatric TEN. The strategy highlights the importance of adaptive wound staging, trauma-minimizing techniques, and proactive mucosal protection, offering a replicable framework for similar critical care scenarios.
{"title":"A multidisciplinary, phased nursing strategy for skin and mucosal management in a pediatric case of toxic epidermal necrolysis with respiratory failure: a case report.","authors":"Cheng Yang, Yang Wen, Peijin He, Yanling Dong, Yunjie Feng","doi":"10.3389/fped.2026.1759262","DOIUrl":"10.3389/fped.2026.1759262","url":null,"abstract":"<p><strong>Introduction: </strong>Toxic Epidermal Necrolysis (TEN) is a life-threatening dermatologic emergency, with particularly high morbidity and mortality in children due to their vulnerable skin barrier and propensity for systemic complications. When TEN is further complicated by respiratory failure, the competing demands of airway management and skin preservation pose a significant therapeutic challenge.</p><p><strong>Case report: </strong>We report a case of a 6-year-old boy with TEN involving 70% body surface area and concurrent respiratory failure. The patient required endotracheal intubation and mechanical ventilation, which exacerbated facial skin injury. A structured, multidisciplinary, and phased nursing protocol was implemented, integrating respiratory support with meticulous skin, ocular, oral, and urogenital care.</p><p><strong>Interventions & outcomes: </strong>A coordinated team comprising pediatric intensive care, dermatology, infectious diseases, and nutrition specialists guided management. Skin care was staged according to wound healing phases, utilizing non-adhesive dressings, topical recombinant bovine basic fibroblast growth factor (bFGF) gel, and innovative tube-securement techniques. Systemic and mucosal care protocols were rigorously applied. The patient achieved complete re-epithelialization by day 35, was successfully extubated, and discharged in stable condition on day 46 with no major sequelae.</p><p><strong>Conclusion: </strong>This case demonstrates that a structured, phase-based, and multidisciplinary nursing approach can effectively balance life-sustaining interventions with tissue preservation in severe pediatric TEN. The strategy highlights the importance of adaptive wound staging, trauma-minimizing techniques, and proactive mucosal protection, offering a replicable framework for similar critical care scenarios.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1759262"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118688","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}
Pub Date : 2026-01-20eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1739543
Abdul Waheed Bahir, Munir Ahmad Bahir, Karthikesu Kartheepan, Qudratullah Bahir, Gan Xuewen, Gu Shao, Xiao Jiayu, Xiong Ying
Background: Pediatric flatfoot is a prevalent musculoskeletal condition that may impair gait patterns, posture, and quality of life. Despite its clinical importance, only a few studies have explored how its prevalence and risk factors vary across different sociocultural settings. To date, no study has directly compared pediatric flatfoot between the two countries. Therefore, this study aimed to determine the prevalence of pediatric flatfoot and identify the associated modifiable risk factors among schoolchildren from two different countries representing urbanized and resource-limited settings.
Methods: A cross-sectional study was conducted between December 2023 and February 2025 among the schoolchildren aged 7-14 years with a total number of 4,205 in Kunming, China, and Kandahar, Afghanistan. Foot morphology was assessed using an optical podoscope, and flatfoot was classified using a line-based footprint method. Anthropometric data and information on footwear, physical activity, and foot pain were collected using standardized questionnaires. Logistic regression analysis was used to identify the independent risk factors.
Results: The overall prevalence of flatfoot was 12.8%, with 11.0% in Kunming and 14.6% in Kandahar. Flatfoot is more common in boys, children aged 11-14 years, and urban residents. Obesity, insufficient physical activity, closed-toe footwear, and foot pain were significantly associated with higher odds of the flatfoot with consistent patterns across both sites. Most cases were bilateral, and approximately one-fifth were classified as severe.
Conclusion: Pediatric flatfoot remains a widespread condition among school-aged children in both urban and resource-limited settings. Its strong and consistent links with modifiable factors such as body mass index, physical activity, footwear, and foot pain highlight the need for early school-based screening and prevention programs that encourage active lifestyles, healthy body weight, and the use of proper footwear. These results offer valuable cross-cultural insights to support pediatric foot health and guide future preventive initiatives.
{"title":"Prevalence and modifiable risk factors for pediatric flatfoot among schoolchildren in Kunming and Kandahar: a cross-sectional study.","authors":"Abdul Waheed Bahir, Munir Ahmad Bahir, Karthikesu Kartheepan, Qudratullah Bahir, Gan Xuewen, Gu Shao, Xiao Jiayu, Xiong Ying","doi":"10.3389/fped.2025.1739543","DOIUrl":"10.3389/fped.2025.1739543","url":null,"abstract":"<p><strong>Background: </strong>Pediatric flatfoot is a prevalent musculoskeletal condition that may impair gait patterns, posture, and quality of life. Despite its clinical importance, only a few studies have explored how its prevalence and risk factors vary across different sociocultural settings. To date, no study has directly compared pediatric flatfoot between the two countries. Therefore, this study aimed to determine the prevalence of pediatric flatfoot and identify the associated modifiable risk factors among schoolchildren from two different countries representing urbanized and resource-limited settings.</p><p><strong>Methods: </strong>A cross-sectional study was conducted between December 2023 and February 2025 among the schoolchildren aged 7-14 years with a total number of 4,205 in Kunming, China, and Kandahar, Afghanistan. Foot morphology was assessed using an optical podoscope, and flatfoot was classified using a line-based footprint method. Anthropometric data and information on footwear, physical activity, and foot pain were collected using standardized questionnaires. Logistic regression analysis was used to identify the independent risk factors.</p><p><strong>Results: </strong>The overall prevalence of flatfoot was 12.8%, with 11.0% in Kunming and 14.6% in Kandahar. Flatfoot is more common in boys, children aged 11-14 years, and urban residents. Obesity, insufficient physical activity, closed-toe footwear, and foot pain were significantly associated with higher odds of the flatfoot with consistent patterns across both sites. Most cases were bilateral, and approximately one-fifth were classified as severe.</p><p><strong>Conclusion: </strong>Pediatric flatfoot remains a widespread condition among school-aged children in both urban and resource-limited settings. Its strong and consistent links with modifiable factors such as body mass index, physical activity, footwear, and foot pain highlight the need for early school-based screening and prevention programs that encourage active lifestyles, healthy body weight, and the use of proper footwear. These results offer valuable cross-cultural insights to support pediatric foot health and guide future preventive initiatives.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1739543"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118734","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}
Pub Date : 2026-01-20eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1706982
Lingxia Zhao, Feng Deng, Baohuan Cai
Background: ACTA1-related congenital myopathies are rare neuromuscular disorders with significant genotypic heterogeneity, often causing severe neonatal multisystem involvement. This study presents a severe neonatal case with a pathogenic ACTA1 variant and reviews literature to highlight diagnostic and management challenges.
Case presentation: A female infant was born via cesarean section at 39+1 weeks to a non-consanguineous mother. Prenatal ultrasound showed polyhydramnios. She presented with severe birth asphyxia (Apgar 3 at 1 min, 5 at 5 min), requiring immediate resuscitation. Physical examination revealed profound hypotonia, absent spontaneous movements, respiratory insufficiency necessitating mechanical ventilation, expressionless facies, and bulbar dysfunction. Laboratory tests indicated metabolic acidosis and elevated lactate and creatine kinase. Electromyography (EMG) demonstrated reduced motor amplitudes and spontaneous fibrillations. Whole-exome sequencing identified a de novo heterozygous pathogenic variant in ACTA1 (c.227G>A, p. Gly76Asp), confirming ACTA1-related congenital myopathy. Care was withdrawn on day 18 due to poor neurologic recovery.
Conclusion: This case highlights three critical implications: (1) the significant clinical overlap between ACTA1 myopathy and perinatal asphyxia, underscoring the necessity of genetic testing in hypotonic neonates with atypical presentations; (2) the grave prognosis of early-onset ACTA1 mutations, which mandates early palliative care consultation; and (3) the essential role of a precise genetic diagnosis in defining phenotypes and informing future targeted therapies, such as gene therapy.
背景:acta1相关的先天性肌病是一种罕见的神经肌肉疾病,具有显著的基因型异质性,常导致新生儿严重的多系统受累。本研究提出了一个严重的新生儿病例致病性ACTA1变异和回顾文献,以突出诊断和管理的挑战。病例介绍:一位非近亲母亲于39+1周剖宫产产下一名女婴。产前超声显示羊水过多。她出现严重的出生窒息(1分钟时Apgar为3,5分钟时Apgar为5),需要立即复苏。体格检查显示深度张力低下,无自发运动,呼吸功能不全,需要机械通气,无表情相,球功能障碍。实验室检查显示代谢性酸中毒,乳酸和肌酸激酶升高。肌电图(EMG)显示运动波幅降低和自发性纤颤。全外显子组测序鉴定出ACTA1的新杂合致病变异(c.227G> a, p. Gly76Asp),证实了ACTA1相关的先天性肌病。由于神经系统恢复不佳,于第18天停止治疗。结论:该病例突出了三个关键意义:(1)ACTA1肌病与围产期窒息之间存在显著的临床重叠,强调了对非典型表现的低渗新生儿进行基因检测的必要性;(2)早发性ACTA1突变预后严重,需要尽早进行姑息治疗咨询;(3)精确的基因诊断在定义表型和为未来的靶向治疗(如基因治疗)提供信息方面的重要作用。
{"title":"<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review.","authors":"Lingxia Zhao, Feng Deng, Baohuan Cai","doi":"10.3389/fped.2025.1706982","DOIUrl":"10.3389/fped.2025.1706982","url":null,"abstract":"<p><strong>Background: </strong><i>ACTA1</i>-related congenital myopathies are rare neuromuscular disorders with significant genotypic heterogeneity, often causing severe neonatal multisystem involvement. This study presents a severe neonatal case with a pathogenic <i>ACTA1</i> variant and reviews literature to highlight diagnostic and management challenges.</p><p><strong>Case presentation: </strong>A female infant was born via cesarean section at 39<sup>+1</sup> weeks to a non-consanguineous mother. Prenatal ultrasound showed polyhydramnios. She presented with severe birth asphyxia (Apgar 3 at 1 min, 5 at 5 min), requiring immediate resuscitation. Physical examination revealed profound hypotonia, absent spontaneous movements, respiratory insufficiency necessitating mechanical ventilation, expressionless facies, and bulbar dysfunction. Laboratory tests indicated metabolic acidosis and elevated lactate and creatine kinase. Electromyography (EMG) demonstrated reduced motor amplitudes and spontaneous fibrillations. Whole-exome sequencing identified a <i>de novo</i> heterozygous pathogenic variant in <i>ACTA1</i> (c.227G>A, p. Gly76Asp), confirming <i>ACTA1</i>-related congenital myopathy. Care was withdrawn on day 18 due to poor neurologic recovery.</p><p><strong>Conclusion: </strong>This case highlights three critical implications: (1) the significant clinical overlap between <i>ACTA1</i> myopathy and perinatal asphyxia, underscoring the necessity of genetic testing in hypotonic neonates with atypical presentations; (2) the grave prognosis of early-onset <i>ACTA1</i> mutations, which mandates early palliative care consultation; and (3) the essential role of a precise genetic diagnosis in defining phenotypes and informing future targeted therapies, such as gene therapy.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1706982"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118560","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}
Pub Date : 2026-01-20eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1684485
Hua Wen
Childhood obesity is a global health crisis with limited effective therapies beyond lifestyle modification. This review examines the growing role of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in the management of pediatric obesity. Simultaneously, this study highlights the critical considerations for clinicians in administering these medications, including long-term safety, efficacy, potential adverse effects, and overall clinical utility. To enhance the effectiveness of GLP-1 RAs in managing pediatric obesity, we propose a comprehensive clinical medication use management process that includes review, screening, combination therapy, education, monitoring, and follow-up. We also present recommendations for policymakers and healthcare systems. In conclusion, GLP-1 RAs represent an emerging therapeutic paradigm for pediatric obesity, demonstrating notable efficacy in weight reduction for adolescents. Ongoing research is needed to determine long-term outcomes, optimal treatment duration, and strategies to ensure broad and equitable access to these therapies.
{"title":"Beyond lifestyle modification: the role of GLP-1 receptor agonists in treating pediatric obesity.","authors":"Hua Wen","doi":"10.3389/fped.2025.1684485","DOIUrl":"10.3389/fped.2025.1684485","url":null,"abstract":"<p><p>Childhood obesity is a global health crisis with limited effective therapies beyond lifestyle modification. This review examines the growing role of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in the management of pediatric obesity. Simultaneously, this study highlights the critical considerations for clinicians in administering these medications, including long-term safety, efficacy, potential adverse effects, and overall clinical utility. To enhance the effectiveness of GLP-1 RAs in managing pediatric obesity, we propose a comprehensive clinical medication use management process that includes review, screening, combination therapy, education, monitoring, and follow-up. We also present recommendations for policymakers and healthcare systems. In conclusion, GLP-1 RAs represent an emerging therapeutic paradigm for pediatric obesity, demonstrating notable efficacy in weight reduction for adolescents. Ongoing research is needed to determine long-term outcomes, optimal treatment duration, and strategies to ensure broad and equitable access to these therapies.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1684485"},"PeriodicalIF":2.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12864059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118728","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}
Pub Date : 2026-01-19eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1734987
Li Yang, Feifan Chen, Kunpeng Li, Jiajun Chen, Wenying Liu, Yi Ji, Meng Xia, Jing Xie, Ke Ding, Qiang Zeng, Fang Hou
Introduction: Infantile hemangiomas, the commonest benign vascular tumors of infancy, often cluster on the head and neck where early treatment can avert permanent disfigurement, prompting us to evaluate 0.5% timolol maleate wet compresses as a non-invasive alternative to oral propranolol.
Methods: We conducted a study of 359 consecutive infants treated at Sichuan Provincial People's Hospital between December 2018 and January 2024. Baseline demographics, lesion site and size, age at initial treatment, treatment duration, and follow-up period were recorded. Treatment outcomes were graded as excellent (complete regression), good (≥50% shrinkage), fair (<50% shrinkage), or poor (no change/growth). Eexcellent/good outcomes were defined as a positive therapeutic effect, while fair/poor outcomes were classified as negative therapeutic effect.
Results: 267 infants (74.37%) achieved positive therapeutic effect, with 117 excellent and 150 good, whereas 92 infants (25.63%) achieved negative therapeutic effect including 53 were fair and 39 poor. Treatment outcomes were significantly better when therapy began before 3 months (early age) (U = 9954, Z = - 3.256, P = 0.001) and for lesions ≤3 cm diameter (small size) (U = 2,869.5, Z = - 13.952, P < 0.001), and multivariate analysis confirmed early age (OR = 0.784, P = 0.024) and small size (OR = 0.113, P < 0.001) as independent predictors of positive therapeutic effect. Adverse events were mild: 24 (6.69%) local irritation, 41 (11.42%) transient systemic symptoms. Skin sequelae were observed in 12 (3.34%) cases.
Discussion: Topical timolol compresses offer a safe, effective first-line option for superficial head-and-neck infantile hemangiomas, especially when started early and directed at smaller lesions.
婴儿血管瘤是婴儿最常见的良性血管肿瘤,通常聚集在头部和颈部,早期治疗可以避免永久性毁容,这促使我们评估0.5%马酸替马洛尔湿敷作为口服普氨洛尔的非侵入性替代方案。方法:我们对2018年12月至2024年1月在四川省人民医院连续就诊的359名婴儿进行了研究。记录基线人口统计学、病变部位和大小、初始治疗年龄、治疗持续时间和随访时间。治疗结果分为优(完全回归)、良(收缩≥50%)、一般(结果:267例患儿(74.37%)获得阳性治疗效果,其中优117例,良150例;92例患儿(25.63%)获得阴性治疗效果,其中一般53例,差39例。在3个月前(早期)开始治疗(U = 9954, Z = - 3.256, P = 0.001),病灶直径≤3cm(小尺寸)(U = 2,869.5, Z = - 13.952, P = 0.024)和小尺寸(OR = 0.113, P)时,治疗结果明显更好。讨论:局部替莫洛尔敷布为婴幼儿浅表头颈部血管瘤提供了一种安全有效的一线选择,特别是在早期开始治疗和针对较小病变时。
{"title":"A retrospective study on the treatment of superficial infantile hemangiomas of the head and neck using topical compresses with 0.5% timolol maleate eye drops.","authors":"Li Yang, Feifan Chen, Kunpeng Li, Jiajun Chen, Wenying Liu, Yi Ji, Meng Xia, Jing Xie, Ke Ding, Qiang Zeng, Fang Hou","doi":"10.3389/fped.2025.1734987","DOIUrl":"10.3389/fped.2025.1734987","url":null,"abstract":"<p><strong>Introduction: </strong>Infantile hemangiomas, the commonest benign vascular tumors of infancy, often cluster on the head and neck where early treatment can avert permanent disfigurement, prompting us to evaluate 0.5% timolol maleate wet compresses as a non-invasive alternative to oral propranolol.</p><p><strong>Methods: </strong>We conducted a study of 359 consecutive infants treated at Sichuan Provincial People's Hospital between December 2018 and January 2024. Baseline demographics, lesion site and size, age at initial treatment, treatment duration, and follow-up period were recorded. Treatment outcomes were graded as excellent (complete regression), good (≥50% shrinkage), fair (<50% shrinkage), or poor (no change/growth). Eexcellent/good outcomes were defined as a positive therapeutic effect, while fair/poor outcomes were classified as negative therapeutic effect.</p><p><strong>Results: </strong>267 infants (74.37%) achieved positive therapeutic effect, with 117 excellent and 150 good, whereas 92 infants (25.63%) achieved negative therapeutic effect including 53 were fair and 39 poor. Treatment outcomes were significantly better when therapy began before 3 months (early age) (<i>U</i> = 9954, <i>Z</i> = - 3.256, <i>P</i> = 0.001) and for lesions ≤3 cm diameter (small size) (<i>U</i> = 2,869.5, <i>Z</i> = - 13.952, <i>P</i> < 0.001), and multivariate analysis confirmed early age (OR = 0.784, <i>P</i> = 0.024) and small size (OR = 0.113, <i>P</i> < 0.001) as independent predictors of positive therapeutic effect. Adverse events were mild: 24 (6.69%) local irritation, 41 (11.42%) transient systemic symptoms. Skin sequelae were observed in 12 (3.34%) cases.</p><p><strong>Discussion: </strong>Topical timolol compresses offer a safe, effective first-line option for superficial head-and-neck infantile hemangiomas, especially when started early and directed at smaller lesions.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1734987"},"PeriodicalIF":2.0,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12862088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146112955","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}
Pub Date : 2026-01-19eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1727123
Lili Hao, Youhua Wei, Jiahui Lin, Juan Li, Zhongfang Xia
Objective: To analyze the clinical characteristics and etiological spectrum of retropharyngeal space abnormalities in children, stratifying by age to improve diagnostic and therapeutic strategies.
Methods: We retrospectively analyzed the clinical data of 77 pediatric patients with imaging-confirmed retropharyngeal space abnormalities admitted to Wuhan Children's Hospital between January 2015 and March 2024. Patients were divided into two groups based on age: younger group (<6 years, n = 51) and older group (≥6 years, n = 26). Demographics, clinical presentations, imaging findings, etiologies, and treatment outcomes were compared between the groups using Chi-square or Fisher's exact tests for categorical data and independent samples t-tests for continuous data.
Results: The most common presenting symptoms were fever (49.4%) and neck mass (33.8%). The primary CT finding was retropharyngeal hypodensity or fluid collection (68.8%). No significant differences were observed in sex ratio, clinical symptoms, or imaging findings between the two age groups (p > 0.05). However, children <6 years old had a significantly higher rate of requiring transoral incision and drainage for retropharyngeal abscess (23.5% vs. 3.8%, p = 0.041). Etiologically, infectious diseases were significantly more prevalent in the older group (92.3% vs. 70.6%, p = 0.030), whereas congenital malformations were a more common underlying cause in the younger group, however, this trend did not reach statistical significance (p = 0.051).
Conclusion: The etiology and management of pediatric retropharyngeal abnormalities are age-dependent; infectious causes dominate in children ≥6 years, while congenital malformations are key considerations in those <6 years, who are at higher risk for abscess formation requiring surgical intervention.
{"title":"Clinical characteristics and etiological profile of retropharyngeal space abnormalities in children: a nine-year retrospective analysis.","authors":"Lili Hao, Youhua Wei, Jiahui Lin, Juan Li, Zhongfang Xia","doi":"10.3389/fped.2025.1727123","DOIUrl":"10.3389/fped.2025.1727123","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical characteristics and etiological spectrum of retropharyngeal space abnormalities in children, stratifying by age to improve diagnostic and therapeutic strategies.</p><p><strong>Methods: </strong>We retrospectively analyzed the clinical data of 77 pediatric patients with imaging-confirmed retropharyngeal space abnormalities admitted to Wuhan Children's Hospital between January 2015 and March 2024. Patients were divided into two groups based on age: younger group (<6 years, <i>n</i> = 51) and older group (≥6 years, <i>n</i> = 26). Demographics, clinical presentations, imaging findings, etiologies, and treatment outcomes were compared between the groups using Chi-square or Fisher's exact tests for categorical data and independent samples <i>t</i>-tests for continuous data.</p><p><strong>Results: </strong>The most common presenting symptoms were fever (49.4%) and neck mass (33.8%). The primary CT finding was retropharyngeal hypodensity or fluid collection (68.8%). No significant differences were observed in sex ratio, clinical symptoms, or imaging findings between the two age groups (<i>p</i> > 0.05). However, children <6 years old had a significantly higher rate of requiring transoral incision and drainage for retropharyngeal abscess (23.5% vs. 3.8%, <i>p</i> = 0.041). Etiologically, infectious diseases were significantly more prevalent in the older group (92.3% vs. 70.6%, <i>p</i> = 0.030), whereas congenital malformations were a more common underlying cause in the younger group, however, this trend did not reach statistical significance (<i>p</i> = 0.051).</p><p><strong>Conclusion: </strong>The etiology and management of pediatric retropharyngeal abnormalities are age-dependent; infectious causes dominate in children ≥6 years, while congenital malformations are key considerations in those <6 years, who are at higher risk for abscess formation requiring surgical intervention.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1727123"},"PeriodicalIF":2.0,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12862053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113015","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}
Pub Date : 2026-01-16eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1635822
Lihua Jin, Caixia Zhao, Jiao Xiong, Qiqi Chang, Yan Su, Binjing Dou, Li Zhang, Ping He
Background: The rising incidence of infectious diseases underscores the necessity for vaccination such as COVID-19. Beyond examining the side effects in healthy individuals, it is crucial to investigate the vaccination experiences of vulnerable populations, particularly those with Henoch-Schönlein purpura (HSP).
Methods: A questionnaire study was conducted during the period of rapid outbreak following the relaxation of travel restrictions in China towards the latter stages of the COVID-19 pandemic.
Results: Despite non-HSP individuals exhibiting more pronounced symptoms of cough, fatigue, dizziness, and headache compared to HSP patients, the HSP group displayed significantly lower rates of vaccination post-matching. Specifically, only 63% of HSP individuals completed the full vaccination regimen, with no significant association found between vaccination status and improved recovery or mitigation of HSP symptoms. Among HSP individuals, only improvement in diarrhea symptoms was positively correlated with recovery time, while fully vaccinated HSP children exhibited more abnormal symptoms during the recovery period.
Conclusion: Results from this study on COVID-19 vaccination status among pediatric patients who required hospital visits during the peak of the pandemic indicated that vaccination rates were comparatively lower among patients with HSP, even amidst severe outbreaks. HSP patients who completed the full vaccination regimen appeared to experience more pronounced adverse symptoms. This observation suggests that their increased vaccine hesitancy relative to the general population may be justified and warrants careful consideration.
{"title":"The impact of COVID-19 on recovery in Henoch-Schönlein purpura patients: a cross-sectional questionnaire study during a distinctive period.","authors":"Lihua Jin, Caixia Zhao, Jiao Xiong, Qiqi Chang, Yan Su, Binjing Dou, Li Zhang, Ping He","doi":"10.3389/fped.2025.1635822","DOIUrl":"10.3389/fped.2025.1635822","url":null,"abstract":"<p><strong>Background: </strong>The rising incidence of infectious diseases underscores the necessity for vaccination such as COVID-19. Beyond examining the side effects in healthy individuals, it is crucial to investigate the vaccination experiences of vulnerable populations, particularly those with Henoch-Schönlein purpura (HSP).</p><p><strong>Methods: </strong>A questionnaire study was conducted during the period of rapid outbreak following the relaxation of travel restrictions in China towards the latter stages of the COVID-19 pandemic.</p><p><strong>Results: </strong>Despite non-HSP individuals exhibiting more pronounced symptoms of cough, fatigue, dizziness, and headache compared to HSP patients, the HSP group displayed significantly lower rates of vaccination post-matching. Specifically, only 63% of HSP individuals completed the full vaccination regimen, with no significant association found between vaccination status and improved recovery or mitigation of HSP symptoms. Among HSP individuals, only improvement in diarrhea symptoms was positively correlated with recovery time, while fully vaccinated HSP children exhibited more abnormal symptoms during the recovery period.</p><p><strong>Conclusion: </strong>Results from this study on COVID-19 vaccination status among pediatric patients who required hospital visits during the peak of the pandemic indicated that vaccination rates were comparatively lower among patients with HSP, even amidst severe outbreaks. HSP patients who completed the full vaccination regimen appeared to experience more pronounced adverse symptoms. This observation suggests that their increased vaccine hesitancy relative to the general population may be justified and warrants careful consideration.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1635822"},"PeriodicalIF":2.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12855515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146104935","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}