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Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025). 儿科相关新冠肺炎后病情(长新冠)研究及其基础影响:文献计量分析(2020-2025)
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1677983
Natalya Chagay, Amin Tamadon, Svetlana Kim, Arystan Dossimov, Zhamilya Issanguzhina, Gulzhan Tulegenova, Gulmira Kuldeeva, Natalya Puxovikova, Irina Kim, Nadiar M Mussin, Ramazon Safarzoda Sharoffidin

Background: The COVID-19 pandemic significantly influenced healthcare systems worldwide. The long-term consequences of the infection in children, the phenomenon of post-COVID-19 syndrome, have been attracting increasing attention of the scientific community. The present study is a bibliometric analysis of publications addressing post-COVID (long COVID) complications in pediatric population over the period 2020-2025.

Methods and materials: The analysis covers 1,292 records retrieved from Scopus and Web of Science (search date: June 2025). Records were retrieved using post-COVID condition/long COVID terminology combined with pediatric-related keywords; therefore, the corpus includes pediatric-focused studies as well as influential general PCC publications indexed with pediatric terms and frequently cited in pediatric research. The search strategy combined post-COVID condition/long COVID terminology with pediatric terms (child/infant/adolescent), applying filters for English language, publication years 2020-2025, and document type (articles and reviews). Data were merged and analyzed in R using bibliometrix/Biblioshiny to describe productivity, collaboration, citations, and thematic structure.

Results: The retrieved corpus included 1,292 publications from 84 countries/regions. The United States led productivity with 270 publications (20.9%), followed by the United Kingdom (114; 8.8%) and China (90; 7.0%). The most frequent author keywords included "COVID-19" (n = 900) and "long COVID" (n = 818). Highly cited items predominantly consisted of general or mixed-age PCC frameworks, indicating that foundational long COVID literature substantially shapes citation patterns within pediatric-tagged publications. Thematic mapping showed symptom-focused clusters as dominant, while MIS-C and cognitive impairment were less prominent in author-keyword frequency and thematic clustering within the retrieved dataset.

Conclusion: The findings describe the pediatric-term-indexed PCC research landscape and highlight substantial gaps in pediatric-specific evidence, definitions, and longitudinal data.

背景:2019冠状病毒病大流行对全球卫生保健系统产生了重大影响。儿童感染的长期后果,即covid -19后综合征现象,越来越受到科学界的关注。本研究是对2020-2025年期间儿科人群中关于COVID后(长COVID)并发症的出版物进行文献计量分析。方法与材料:分析了Scopus和Web of Science检索的1292条记录(检索日期:2025年6月)。使用post-COVID condition/long COVID术语结合儿科相关关键词检索记录;因此,该语料库包括以儿科为重点的研究,以及有影响力的以儿科术语为索引并在儿科研究中经常被引用的一般PCC出版物。该搜索策略将后冠状病毒病/长冠状病毒病术语与儿科术语(儿童/婴儿/青少年)结合起来,并应用英语、2020-2025年出版年份和文档类型(文章和综述)的过滤器。在R中使用bibliometrix/Biblioshiny对数据进行合并和分析,以描述生产力、协作、引用和主题结构。结果:检索到的语料库包括来自84个国家/地区的1292篇出版物。美国以270篇论文(20.9%)位居榜首,其次是英国(114篇;8.8%)和中国(90篇;7.0%)。最常见的作者关键词包括“COVID-19”(n = 900)和“long COVID”(n = 818)。高被引文献主要由一般或混合年龄PCC框架组成,这表明基础长篇COVID文献在很大程度上影响了儿科标签出版物的引用模式。主题映射显示以症状为中心的聚类占主导地位,而misc和认知障碍在检索数据集中的作者关键词频率和主题聚类中不太突出。结论:研究结果描述了儿科术语索引的PCC研究概况,并强调了儿科特异性证据、定义和纵向数据方面的实质性差距。
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引用次数: 0
Assessment of biotinidase activity changes over time in biotinidase deficient patients. 生物素酶缺乏患者生物素酶活性随时间变化的评估。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1694031
Aliye Gülbahçe, Ahmet Muderrisoglu, Hatice Güneş, Murat Erdoğan, Munis Dündar, Fatih Kardaş

Introduction: Biotinidase enzyme is responsible for recycling biotin which is essential for metabolic functions. Loss of function mutations in the BTD gene causes biotinidase deficiency (BTD). It is diagnosed by measuring biotinidase activity and it can lead to severe neurological symptoms. We aimed to evaluate biotinidase activity changes in patients with BTD over time.

Methods: 194 patients with BTD were enrolled. Clinical, laboratory and genetic data of the patients were retrospectively evaluated. Patients with enzyme activity below 10% of normal were diagnosed with profound BTD while patients with enzyme activity between 10% and 30% were diagnosed with partial BTD.

Results: 104 (53.6%) patients were male, most patients were diagnosed at screening (n = 183, 94.3%) and the mean age at the time of diagnosis for symptomatic patients was 82.7 ± 22.8 (range: 1-216) months. Two (1%) patients had profound BTD, 168 (86.6%) patients had partial BTD, and 24 (12.4%) patients had more than 30% of normal biotinidase activity. Overall, the last measured biotinidase activity levels were significantly higher than the initial measurements (p < 0.0001). This finding was valid for all subgroups classified according to birth week, birth weight, and consanguineous marriage status. The increase in enzyme rate over time was slower in children of consanguineous marriages compared to children who were not.

Discussion: This study showed that biotinidase activity increased in BTD patients over time and repeated measurements of biotinidase would be a better approach to evaluate BTD. In addition, consanguineous marriage may be a risk factor for a worse prognosis in BTD.

生物素酶是一种循环利用生物素的酶,生物素对人体的代谢功能至关重要。BTD基因的功能突变导致生物素酶缺乏症(BTD)。它是通过测量生物素酶活性来诊断的,它可以导致严重的神经系统症状。我们的目的是评估BTD患者生物素酶活性随时间的变化。方法:194例BTD患者入组。回顾性评价患者的临床、实验室和遗传学资料。酶活性低于正常值10%的患者诊断为重度BTD,酶活性在10% - 30%之间的患者诊断为部分BTD。结果:男性104例(53.6%),多数在筛查时确诊(183例,94.3%),有症状患者诊断时平均年龄为82.7±22.8(范围:1 ~ 216)个月。2例(1%)患者为重度BTD, 168例(86.6%)患者为部分BTD, 24例(12.4%)患者的生物素酶活性超过正常水平的30%。总的来说,最后一次测量的生物素酶活性水平明显高于最初的测量(p讨论:这项研究表明,生物素酶活性随着时间的推移而增加,重复测量生物素酶将是评估BTD的更好方法。此外,近亲婚姻可能是BTD预后较差的一个危险因素。
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引用次数: 0
Construction and validation of a prognostic model for children with acute upper gastrointestinal bleeding. 急性上消化道出血儿童预后模型的建立与验证。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1678810
Ruixue Li, Yanmin Wu, Wenting Zhang, Qing Li, Keying Sheng, Yaping Ma

Background: Gastrointestinal bleeding (GIB) is a common symptom of the pediatric digestive system, with acute upper gastrointestinal bleeding (AUGIB) being extremely dangerous for children. In the present study, we established a risk prediction model for the prognosis of children with AUGIB and provided a new method for early identification of poor prognosis, thereby reducing the disease burden.

Methods: Binary logistic regression analysis was conducted to identify independent risk factors influencing the outcomes of children with AUGIB. The receiver operating characteristic curve (ROC) was generated to assess the predictive efficacy of these risk factors. A nomogram prediction model was constructed, and its performance was evaluated using the consistency index (C-index) and calibration curve. Decision curve analysis (DCA) was applied to estimate the clinical benefits of the intervention.

Results: A total of 372 children who were diagnosed with AUGIB and met the inclusion criteria were enrolled in the study. Neutrophil to leukocyte ratio (NLR), platelet to lymphocyte ratio (PLR), hemoglobin (Hb), high-sensitivity C-reactive protein (hsCRP), and activated partial thromboplastin time (APTT) are independent influencing factors for the outcomes of AUGIB in children. The nomogram model was constructed by including the above independent influencing factors; the consistency index was 0.945 [95 confidence interval (CI): 0.931-0.959]. The DCA was used to assess the prediction performance of the model to obtain net clinical benefits.

Conclusion: A preoperative serum test was an effective and objective method to predict the prognosis of children with AUGIB. The established prognostic risk prediction model had a good prediction effect; it could provide a reference to clinically assess the risk of poor prognosis in children with AUGIB.

背景:胃肠道出血(GIB)是儿童消化系统的常见症状,急性上消化道出血(AUGIB)对儿童非常危险。本研究建立了AUGIB患儿预后风险预测模型,为早期发现不良预后提供了一种新的方法,从而减轻疾病负担。方法:采用二元logistic回归分析,确定影响AUGIB患儿预后的独立危险因素。生成受试者工作特征曲线(ROC)来评估这些危险因素的预测效果。建立了nomogram预测模型,并利用一致性指数(C-index)和校准曲线对其性能进行了评价。采用决策曲线分析(DCA)评估干预的临床效益。结果:共有372名诊断为AUGIB且符合纳入标准的儿童入组研究。中性粒细胞与白细胞比(NLR)、血小板与淋巴细胞比(PLR)、血红蛋白(Hb)、高敏c反应蛋白(hsCRP)和活化部分凝血活素时间(APTT)是影响儿童AUGIB预后的独立因素。将上述独立影响因素纳入模态图模型;一致性指数为0.945[95可信区间(CI): 0.931-0.959]。DCA用于评估模型的预测性能,以获得净临床效益。结论:术前血清检查是预测AUGIB患儿预后的一种有效、客观的方法。所建立的预后风险预测模型预测效果良好;为临床评估AUGIB患儿预后不良风险提供参考。
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引用次数: 0
Interaction of intrauterine Zika virus exposure on the relationship between body adiposity and dyslipidemia in school-aged children. 宫内寨卡病毒暴露与学龄期儿童体脂与血脂异常关系的相互作用
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1675914
Aline Ribeiro Murta, Mariana de Santis Filgueiras, Cíntia Pereira Donateli, Milena Sales Thomé, Rosângela Minardi Mitre Cotta, Tiago Ricardo Moreira, Hércia Stampini Duarte Martino, Marcela Benevenuto Ferreira, Glauce Dias da Costa

Introduction/objectives: Intrauterine exposure to the Zika virus (ZIKV) has been primarily associated with neurological outcomes, while its potential metabolic and nutritional consequences remain poorly understood. This study aimed to evaluate the association between anthropometric indicators body mass index (BMI)-for-age, waist circumference, and neck circumference and lipid profile alterations in school-aged children born during the ZIKV epidemic.

Methods: This retrospective cohort included 93 children aged 5-9 years (mean 6.5 ± 0.7 years; 58.1% boys) from the Belo Horizonte Region, Brazil. Participants were classified as exposed (59.1%) or unexposed to ZIKV in utero. Anthropometric measurements followed standardized protocols and included BMI-for-age, waist circumference, and neck circumference. Lipid profile assessment included total cholesterol, HDL-c, LDL-c, and triglycerides. Cardiovascular risk was estimated using Castelli indices I and II. Behavioral and sociodemographic factors, including screen time, caregiver education, and family income, were also recorded. Associations between anthropometric indicators and lipid outcomes were analyzed using Poisson regression models with robust variance, including interaction terms to assess the modifying effect of ZIKV exposure.

Results: Lipid abnormalities were common: low HDL-c (44.1%), high total cholesterol (33.3%), high LDL-c (26.9%), and high triglycerides (44.1%). Children exposed to ZIKV had a higher prevalence of low HDL-c compared with unexposed peers (54.6% vs. 29.0%; p = 0.015). BMI-for-age was inversely associated with low HDL-c (PR 0.87; 95% CI 0.78-0.97) and showed significant interactions with ZIKV exposure for total cholesterol (p interaction = 0.005) and triglycerides (p interaction = 0.008). Waist circumference interacted with ZIKV exposure regarding total cholesterol (p = 0.029; PR 1.09; 95% CI 1.03-1.16). Neck circumference was positively associated with total cholesterol, LDL-c, and triglycerides, with stronger associations among ZIKV-exposed children. Castelli Index I was higher in the exposed group (p = 0.0389), while Castelli Index II did not differ significantly (p = 0.1087).

Conclusions: Intrauterine ZIKV exposure influences the relationship between adiposity and lipid profile in children. Central adiposity measures including waist circumference, neck circumference, and BMI-provide complementary information for early metabolic risk assessment. These findings highlight the importance of longitudinal monitoring of children exposed to ZIKV in utero to detect early metabolic alterations and guide preventive interventions.

导语/目的:宫内暴露于寨卡病毒(ZIKV)主要与神经系统预后相关,而其潜在的代谢和营养后果仍知之甚少。本研究旨在评估寨卡病毒流行期间出生的学龄儿童的人体测量指标体重指数(BMI)-年龄、腰围和颈围与血脂变化之间的关系。方法:该回顾性队列包括来自巴西贝洛奥里藏特地区的93名5-9岁儿童(平均6.5±0.7岁,58.1%为男孩)。参与者在子宫内暴露于寨卡病毒(59.1%)或未暴露于寨卡病毒。人体测量采用标准化方案,包括年龄bmi、腰围和颈围。脂质评估包括总胆固醇、HDL-c、LDL-c和甘油三酯。使用Castelli指数I和II来评估心血管风险。行为和社会人口因素,包括屏幕时间、照顾者教育和家庭收入,也被记录下来。使用具有稳健方差的泊松回归模型分析人体测量指标与脂质结果之间的关联,包括相互作用项来评估寨卡病毒暴露的调节作用。结果:脂质异常常见:低HDL-c(44.1%),高总胆固醇(33.3%),高LDL-c(26.9%),高甘油三酯(44.1%)。与未接触寨卡病毒的同龄人相比,接触寨卡病毒的儿童低HDL-c患病率更高(54.6%比29.0%;p = 0.015)。年龄bmi与低HDL-c呈负相关(PR 0.87; 95% CI 0.78-0.97),并与总胆固醇(p相互作用= 0.005)和甘油三酯(p相互作用= 0.008)的寨卡病毒暴露显著相互作用。在总胆固醇方面,腰围与寨卡病毒暴露相互作用(p = 0.029; PR = 1.09; 95% CI 1.03-1.16)。颈围与总胆固醇、LDL-c和甘油三酯呈正相关,在暴露于寨卡病毒的儿童中相关性更强。暴露组Castelli指数ⅰ较高(p = 0.0389), Castelli指数ⅱ差异不显著(p = 0.1087)。结论:宫内感染寨卡病毒影响儿童肥胖与血脂的关系。中心性肥胖测量(包括腰围、颈围和bmi)为早期代谢风险评估提供了补充信息。这些发现强调了对在子宫内暴露于寨卡病毒的儿童进行纵向监测以发现早期代谢改变和指导预防干预的重要性。
{"title":"Interaction of intrauterine Zika virus exposure on the relationship between body adiposity and dyslipidemia in school-aged children.","authors":"Aline Ribeiro Murta, Mariana de Santis Filgueiras, Cíntia Pereira Donateli, Milena Sales Thomé, Rosângela Minardi Mitre Cotta, Tiago Ricardo Moreira, Hércia Stampini Duarte Martino, Marcela Benevenuto Ferreira, Glauce Dias da Costa","doi":"10.3389/fped.2026.1675914","DOIUrl":"https://doi.org/10.3389/fped.2026.1675914","url":null,"abstract":"<p><strong>Introduction/objectives: </strong>Intrauterine exposure to the Zika virus (ZIKV) has been primarily associated with neurological outcomes, while its potential metabolic and nutritional consequences remain poorly understood. This study aimed to evaluate the association between anthropometric indicators body mass index (BMI)-for-age, waist circumference, and neck circumference and lipid profile alterations in school-aged children born during the ZIKV epidemic.</p><p><strong>Methods: </strong>This retrospective cohort included 93 children aged 5-9 years (mean 6.5 ± 0.7 years; 58.1% boys) from the Belo Horizonte Region, Brazil. Participants were classified as exposed (59.1%) or unexposed to ZIKV <i>in utero</i>. Anthropometric measurements followed standardized protocols and included BMI-for-age, waist circumference, and neck circumference. Lipid profile assessment included total cholesterol, HDL-c, LDL-c, and triglycerides. Cardiovascular risk was estimated using Castelli indices I and II. Behavioral and sociodemographic factors, including screen time, caregiver education, and family income, were also recorded. Associations between anthropometric indicators and lipid outcomes were analyzed using Poisson regression models with robust variance, including interaction terms to assess the modifying effect of ZIKV exposure.</p><p><strong>Results: </strong>Lipid abnormalities were common: low HDL-c (44.1%), high total cholesterol (33.3%), high LDL-c (26.9%), and high triglycerides (44.1%). Children exposed to ZIKV had a higher prevalence of low HDL-c compared with unexposed peers (54.6% vs. 29.0%; <i>p</i> = 0.015). BMI-for-age was inversely associated with low HDL-c (PR 0.87; 95% CI 0.78-0.97) and showed significant interactions with ZIKV exposure for total cholesterol (p interaction = 0.005) and triglycerides (p interaction = 0.008). Waist circumference interacted with ZIKV exposure regarding total cholesterol (<i>p</i> = 0.029; PR 1.09; 95% CI 1.03-1.16). Neck circumference was positively associated with total cholesterol, LDL-c, and triglycerides, with stronger associations among ZIKV-exposed children. Castelli Index I was higher in the exposed group (<i>p</i> = 0.0389), while Castelli Index II did not differ significantly (<i>p</i> = 0.1087).</p><p><strong>Conclusions: </strong>Intrauterine ZIKV exposure influences the relationship between adiposity and lipid profile in children. Central adiposity measures including waist circumference, neck circumference, and BMI-provide complementary information for early metabolic risk assessment. These findings highlight the importance of longitudinal monitoring of children exposed to ZIKV <i>in utero</i> to detect early metabolic alterations and guide preventive interventions.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1675914"},"PeriodicalIF":2.0,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147473244","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
Chronic nonbacterial osteomyelitis: a typical case and review. 慢性非细菌性骨髓炎1例并复习。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1747342
Qiang Li, Yiwei Wang, Fei Liu, Pengfei Zheng

Background: Chronic Non-bacterial Osteomyelitis (CNO) is a rare autoinflammatory bone disease primarily affecting children and adolescents. The disease presents with a wide spectrum of severity, ranging from mild unifocal lesions to severe, recurrent multifocal bone inflammation. Its etiology remains unclear, making diagnosis challenging due to nonspecific symptoms.

Methods: We report the case of a 14-year-old girl who presented with recurrent swelling and pain in the left clavicle. After multiple admissions, the patient underwent extensive diagnostic workup, including laboratory tests, imaging, and biopsies, which showcased typical imaging and histopathological findings throughout the disease progression, helping to rule out infections and malignancies. Based on clinical findings and the exclusion of other conditions, she was diagnosed with CNO. Treatment included NSAIDs, intravenous antibiotics, and oral medications such as diclofenac sodium, naproxen, methotrexate, and calcitriol.

Results: During the one-year follow-up after initial treatment, the patient experienced recurrent symptoms, including swelling and pain in the left clavicle. After escalation to intravenous pamidronate and subcutaneous adalimumab, the patient achieved sustained clinical remission. During the subsequent two-year follow-up, no further symptom recurrence was observed.

Conclusion: CNO is generally diagnosed by exclusion, with MRI being the gold standard for detecting asymptomatic lesions and assessing disease activity. Treatment typically involves NSAIDs, with bisphosphonates and biologics increasingly used in refractory cases. This case underscores the complexity of diagnosing and managing CNO, highlighting the need for a multidisciplinary approach. Further research is essential to establish standardized diagnostic criteria and optimize treatment strategies for this rare condition.

背景:慢性非细菌性骨髓炎(CNO)是一种罕见的自身炎症性骨病,主要影响儿童和青少年。该病表现为严重程度广泛,从轻度单灶性病变到严重的复发性多灶性骨炎症。其病因尚不清楚,由于非特异性症状,使诊断具有挑战性。方法:我们报告的情况下,14岁的女孩谁提出了反复肿胀和疼痛在左锁骨。多次入院后,患者接受了广泛的诊断检查,包括实验室检查、影像学检查和活检,在整个疾病进展过程中显示了典型的影像学和组织病理学发现,有助于排除感染和恶性肿瘤。根据临床表现和排除其他条件,她被诊断为CNO。治疗包括非甾体抗炎药、静脉注射抗生素和口服药物,如双氯芬酸钠、萘普生、甲氨蝶呤和骨化三醇。结果:初次治疗后随访1年,患者出现左锁骨肿胀、疼痛等反复症状。在升级到静脉注射帕米膦酸钠和皮下注射阿达木单抗后,患者获得了持续的临床缓解。在随后的两年随访中,未观察到进一步的症状复发。结论:CNO一般通过排除诊断,MRI是检测无症状病变和评估疾病活动性的金标准。治疗通常包括非甾体抗炎药,双膦酸盐和生物制剂越来越多地用于难治性病例。该病例强调了诊断和管理CNO的复杂性,强调了多学科方法的必要性。进一步的研究对于建立标准化的诊断标准和优化这种罕见疾病的治疗策略至关重要。
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引用次数: 0
Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality. 病例报告:IDUA基因复合杂合突变引起I型粘多糖病伴子宫发育异常。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1768349
Yuwan Xu, Jing Li, Liuxi Wang, Sancong Pan, Yajie Fan

Mucopolysaccharidosis (MPS) represents a group of rare inherited metabolic disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) due to deficiencies of lysosomal enzymes. Mucopolysaccharidosis type I (MPS I) is caused by biallelic pathogenic variants in the IDUA gene and is inherited in an autosomal recessive pattern. The IDUA gene is located on chromosome 4p16.3 and encodes the lysosomal enzyme α-L-iduronidase, which plays a critical role in the degradation of GAGs, particularly dermatan sulfate and heparan sulfate. Reduced or absent IDUA enzymatic activity leads to the progressive accumulation of undegraded substrates within lysosomes, resulting in multisystem organ involvement. Based on clinical severity, MPS I is traditionally classified into three phenotypic subtypes: the severe form (Hurler syndrome), the intermediate form (Hurler-Scheie syndrome), and the attenuated form (Scheie syndrome, MPS I-S). This report describes a 13-year-old female patient in whom compound heterozygous pathogenic variants in the IDUA gene were identified by genetic testing, and whose clinical manifestations were consistent with the MPS I-S. In addition to typical skeletal and joint abnormalities, the patient also presented with uterine developmental abnormality. Currently, there is no definitive evidence supporting a direct causal relationship between MPS I and uterine developmental abnormalities; however, this case suggests a potential association between MPS I and reproductive system developmental abnormalities. This case may help further expand the phenotypic spectrum of MPS I and enhance clinical awareness of its multisystem involvement.

粘多糖病(MPS)是一组罕见的遗传性代谢性疾病,其特征是由于溶酶体酶缺乏而导致糖胺聚糖(GAGs)异常积累。粘多糖病I型(MPS I)是由IDUA基因的双等位致病变异引起的,并以常染色体隐性遗传方式遗传。IDUA基因位于染色体4p16.3上,编码溶酶体酶α-L-iduronidase,该酶在GAGs的降解中起关键作用,尤其是硫酸皮肤素和硫酸肝素。IDUA酶活性的降低或缺失导致溶酶体内未降解底物的逐渐积累,导致多系统器官受累。根据临床严重程度,MPS I传统上分为三种表型亚型:严重型(Hurler综合征),中间型(Hurler-Scheie综合征)和减毒型(Scheie综合征,MPS I- s)。本文报道1例13岁女性患者,经基因检测发现IDUA基因复合杂合致病变异,临床表现与MPS I-S相符。除了典型的骨骼和关节异常外,患者还出现子宫发育异常。目前,没有明确的证据支持MPS I与子宫发育异常之间的直接因果关系;然而,本病例提示MPS I与生殖系统发育异常之间的潜在关联。本病例可能有助于进一步扩大MPS I的表型谱,提高临床对其多系统累及的认识。
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引用次数: 0
Editorial: Novel targets in pediatrics: advances in diagnostic and therapeutic approaches. 社论:儿科的新靶点:诊断和治疗方法的进展。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1803033
Francesco Catamerò, Francesca Conti, Silvia Ricci, Martina Votto, Francesco Pegoraro
{"title":"Editorial: Novel targets in pediatrics: advances in diagnostic and therapeutic approaches.","authors":"Francesco Catamerò, Francesca Conti, Silvia Ricci, Martina Votto, Francesco Pegoraro","doi":"10.3389/fped.2026.1803033","DOIUrl":"https://doi.org/10.3389/fped.2026.1803033","url":null,"abstract":"","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1803033"},"PeriodicalIF":2.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12982348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147467619","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
Triglyceride-Glucose Index and 30-day mortality in pediatric sepsis: a retrospective cohort study based on PIC database. 儿童败血症的甘油三酯-葡萄糖指数与30天死亡率:基于PIC数据库的回顾性队列研究
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1704208
Yi Ding, Tao Mei

Background: The triglyceride-glucose (TyG) index is widely recognized as a surrogate marker of insulin resistance and poor prognosis in adults. However, the relationship between the TyG index and outcomes in pediatric sepsis patients remains inadequately characterized. Elucidating this association could illuminate the metabolic dimension of sepsis pathophysiology and provide a simple, cost-effective tool for risk stratification in this vulnerable population. This study aims to investigate the relationship between the TyG index and 30-day mortality in pediatric sepsis and to explore its underlying biological significance.

Methods: We conducted a retrospective cohort study and enrolled 149 children who met the diagnostic criteria for sepsis from the PIC database of the Children's Hospital of Zhejiang University between 2010 and 2018. Participants were stratified by TyG level. The primary outcome was 30-day in-hospital all-cause mortality, and the secondary outcome was 30-day ICU all-cause mortality. Cox regression, restricted cubic splines (RCS), and Kaplan-Meier analyses were used to evaluate the association between the TyG index and 30-day mortality in pediatric sepsis patients.

Results: Among the 149 children with sepsis, higher TyG index levels were associated with a reduced 30-day mortality rate. In the multivariate Cox regression model, after adjusting for age, gender and key laboratory variables, the TyG index remained independently and negatively correlated with both in-hospital mortality and intensive care unit mortality. Restrictive cubic spline analysis revealed a linear negative correlation between the TyG index and the risk of death. Subgroup analysis indicated that the TyG index had a consistent protective effect across different age groups, genders and treatment subtypes. Although the Kaplan-Meier survival curve observed a trend of higher TyG index being associated with better survival rates, this association did not reach statistical significance in the sample of this study.

Conclusions: In pediatric patients with sepsis, a higher TyG index was associated with a lower 30-day mortality rate. This finding suggests that the TyG index shows potential for being related to short-term survival rates in children. Future studies need to further explore the interaction between the TyG index and other potential prognostic factors, and verify its value in larger or more diverse populations.

背景:甘油三酯-葡萄糖(TyG)指数被广泛认为是成人胰岛素抵抗和不良预后的替代指标。然而,TyG指数与儿童脓毒症患者预后之间的关系仍然没有充分表征。阐明这种关联可以阐明败血症病理生理的代谢维度,并为这一易感人群的风险分层提供一种简单、经济的工具。本研究旨在探讨TyG指数与儿童败血症30天死亡率的关系,并探讨其潜在的生物学意义。方法:采用回顾性队列研究,纳入2010 - 2018年浙江大学儿童医院PIC数据库中符合脓毒症诊断标准的儿童149例。按TyG水平对参与者进行分层。主要结局是30天住院全因死亡率,次要结局是30天ICU全因死亡率。采用Cox回归、限制性三次样条(RCS)和Kaplan-Meier分析来评估TyG指数与儿童败血症患者30天死亡率之间的关系。结果:在149例败血症患儿中,较高的TyG指数水平与降低的30天死亡率相关。在多变量Cox回归模型中,在调整了年龄、性别和关键实验室变量后,TyG指数与住院死亡率和重症监护病房死亡率均保持独立负相关。限制性三次样条分析显示TyG指数与死亡风险呈线性负相关。亚组分析表明,TyG指数在不同年龄组、性别和治疗亚型中具有一致的保护作用。虽然Kaplan-Meier生存曲线观察到TyG指数越高与生存率越高的趋势,但在本研究的样本中,这种关联并没有达到统计学意义。结论:在儿童脓毒症患者中,较高的TyG指数与较低的30天死亡率相关。这一发现表明,TyG指数可能与儿童的短期存活率有关。未来的研究需要进一步探索TyG指数与其他潜在预后因素之间的相互作用,并验证其在更大或更多样化的人群中的价值。
{"title":"Triglyceride-Glucose Index and 30-day mortality in pediatric sepsis: a retrospective cohort study based on PIC database.","authors":"Yi Ding, Tao Mei","doi":"10.3389/fped.2026.1704208","DOIUrl":"https://doi.org/10.3389/fped.2026.1704208","url":null,"abstract":"<p><strong>Background: </strong>The triglyceride-glucose (TyG) index is widely recognized as a surrogate marker of insulin resistance and poor prognosis in adults. However, the relationship between the TyG index and outcomes in pediatric sepsis patients remains inadequately characterized. Elucidating this association could illuminate the metabolic dimension of sepsis pathophysiology and provide a simple, cost-effective tool for risk stratification in this vulnerable population. This study aims to investigate the relationship between the TyG index and 30-day mortality in pediatric sepsis and to explore its underlying biological significance.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study and enrolled 149 children who met the diagnostic criteria for sepsis from the PIC database of the Children's Hospital of Zhejiang University between 2010 and 2018. Participants were stratified by TyG level. The primary outcome was 30-day in-hospital all-cause mortality, and the secondary outcome was 30-day ICU all-cause mortality. Cox regression, restricted cubic splines (RCS), and Kaplan-Meier analyses were used to evaluate the association between the TyG index and 30-day mortality in pediatric sepsis patients.</p><p><strong>Results: </strong>Among the 149 children with sepsis, higher TyG index levels were associated with a reduced 30-day mortality rate. In the multivariate Cox regression model, after adjusting for age, gender and key laboratory variables, the TyG index remained independently and negatively correlated with both in-hospital mortality and intensive care unit mortality. Restrictive cubic spline analysis revealed a linear negative correlation between the TyG index and the risk of death. Subgroup analysis indicated that the TyG index had a consistent protective effect across different age groups, genders and treatment subtypes. Although the Kaplan-Meier survival curve observed a trend of higher TyG index being associated with better survival rates, this association did not reach statistical significance in the sample of this study.</p><p><strong>Conclusions: </strong>In pediatric patients with sepsis, a higher TyG index was associated with a lower 30-day mortality rate. This finding suggests that the TyG index shows potential for being related to short-term survival rates in children. Future studies need to further explore the interaction between the TyG index and other potential prognostic factors, and verify its value in larger or more diverse populations.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1704208"},"PeriodicalIF":2.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12982365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147467705","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 role of myeloid cells in the pathogenesis of necrotizing enterocolitis; a scoping review. 髓系细胞在坏死性小肠结肠炎发病机制中的作用范围审查。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1750294
Andrea Devaris, Alyssa M Blaise, Liza Konnikova, Oluwabunmi Olaloye

Introduction: Necrotizing enterocolitis (NEC) is a severe gastrointestinal disorder that primarily affects preterm infants, resulting in significant morbidity and mortality. The exact cause of NEC remains unclear, but it is believed to involve a combination of immune dysregulation, intestinal injury, and microbiota imbalance.

Methods: This scoping review examines existing human and animal studies that explore the role of myeloid cells (neutrophils, monocytes, macrophages, and myeloid-derived suppressor cells (MDSCs) in NEC pathogenesis.

Results: A reduction in peripheral blood monocytes, along with increased infiltration of proinflammatory monocytes and neutrophils into the intestine, are strongly associated with NEC severity. Immunoregulatory MDSCs may provide protective benefits; however, their activity appears impaired in preterm infants with NEC. Therapies targeting these immune pathways, including transforming growth factor-β2 (TGF-β2) and lactoferrin, show promise in preclinical models for mitigating inflammation and improving outcomes in infants with NEC.

Conclusions: Targeting myeloid cell immune responses represents a potential therapeutic strategy in NEC. Future research should focus on translating immune-modulating therapies to clinical practice, as such interventions may reduce NEC incidence and severity and offer new hope for vulnerable neonates.

坏死性小肠结肠炎(NEC)是一种严重的胃肠道疾病,主要影响早产儿,导致显著的发病率和死亡率。NEC的确切病因尚不清楚,但据信与免疫失调、肠道损伤和微生物群失衡有关。方法:本综述回顾了现有的人类和动物研究,探讨骨髓细胞(中性粒细胞、单核细胞、巨噬细胞和骨髓源性抑制细胞(MDSCs))在NEC发病机制中的作用。结果:外周血单核细胞的减少,以及促炎单核细胞和中性粒细胞进入肠道的增加,与NEC的严重程度密切相关。免疫调节的MDSCs可能提供保护作用;然而,在患有NEC的早产儿中,它们的活动似乎受损。针对这些免疫途径的治疗,包括转化生长因子-β2 (TGF-β2)和乳铁蛋白,在临床前模型中显示出减轻NEC婴儿炎症和改善预后的希望。结论:靶向髓细胞免疫反应是NEC的一种潜在治疗策略。未来的研究应侧重于将免疫调节疗法转化为临床实践,因为这种干预措施可能会降低NEC的发病率和严重程度,并为脆弱的新生儿带来新的希望。
{"title":"The role of myeloid cells in the pathogenesis of necrotizing enterocolitis; a scoping review.","authors":"Andrea Devaris, Alyssa M Blaise, Liza Konnikova, Oluwabunmi Olaloye","doi":"10.3389/fped.2026.1750294","DOIUrl":"https://doi.org/10.3389/fped.2026.1750294","url":null,"abstract":"<p><strong>Introduction: </strong>Necrotizing enterocolitis (NEC) is a severe gastrointestinal disorder that primarily affects preterm infants, resulting in significant morbidity and mortality. The exact cause of NEC remains unclear, but it is believed to involve a combination of immune dysregulation, intestinal injury, and microbiota imbalance.</p><p><strong>Methods: </strong>This scoping review examines existing human and animal studies that explore the role of myeloid cells (neutrophils, monocytes, macrophages, and myeloid-derived suppressor cells (MDSCs) in NEC pathogenesis.</p><p><strong>Results: </strong>A reduction in peripheral blood monocytes, along with increased infiltration of proinflammatory monocytes and neutrophils into the intestine, are strongly associated with NEC severity. Immunoregulatory MDSCs may provide protective benefits; however, their activity appears impaired in preterm infants with NEC. Therapies targeting these immune pathways, including transforming growth factor-β2 (TGF-β2) and lactoferrin, show promise in preclinical models for mitigating inflammation and improving outcomes in infants with NEC.</p><p><strong>Conclusions: </strong>Targeting myeloid cell immune responses represents a potential therapeutic strategy in NEC. Future research should focus on translating immune-modulating therapies to clinical practice, as such interventions may reduce NEC incidence and severity and offer new hope for vulnerable neonates.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1750294"},"PeriodicalIF":2.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12982386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147467754","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
How does school bullying influence adolescent social adaptation? a serial mediation model of school connectedness and self-disclosure. 校园欺凌如何影响青少年的社会适应?学校连通性与自我表露的序列中介模型。
IF 2 3区 医学 Q2 PEDIATRICS Pub Date : 2026-02-27 eCollection Date: 2026-01-01 DOI: 10.3389/fped.2026.1747055
Zhe Jin, Jiaxiang Wang, Guoxing Xiang, Pinyi Wang, Ruijin Zhang, Hao Li, Xiong Gan

Introduction: School bullying has become an important social problem among adolescents, it can influence the growth of individual, yet understanding of the impacts of school bullying is limited. The present study determined to investigate whether and how school bullying can influence adolescent social adaptation.

Methods: Structural equation modeling was used to assess the hypothesized model. A sample of 434 Chinese adolescents (56.9% females), with an average age of 13.07 years (SD = 0.93), participated the survey.

Results: The present study combined self-disclosure and school connectedness into a serial mediation model, highlighting the role of individual and environmental factors in the outcomes of school bullying.

Discussion: These findings suggest that adolescents who engage in bullying are less likely to disclose personal information, which in turn hinders their sense of belonging at school, ultimately impairing their positive social adaptation. The results highlight the interplay between individual (self-disclosure) and environmental (school connectedness) factors in the outcomes of school bullying. Both limitations and implications are discussed in the end.

校园欺凌已经成为青少年中一个重要的社会问题,它可以影响个体的成长,但对校园欺凌的影响了解有限。本研究旨在探讨校园欺凌是否以及如何影响青少年的社会适应。方法:采用结构方程模型对假设模型进行评估。共有434名中国青少年参与调查,其中女性占56.9%,平均年龄13.07岁(SD = 0.93)。结果:本研究将自我表露和学校连通性结合成一个序列中介模型,突出了个体因素和环境因素对校园欺凌结果的影响。讨论:这些发现表明,参与欺凌的青少年不太可能透露个人信息,这反过来又阻碍了他们在学校的归属感,最终损害了他们积极的社会适应。结果强调了个人(自我表露)和环境(学校联系)因素在校园欺凌结果中的相互作用。最后讨论了局限性和启示。
{"title":"How does school bullying influence adolescent social adaptation? a serial mediation model of school connectedness and self-disclosure.","authors":"Zhe Jin, Jiaxiang Wang, Guoxing Xiang, Pinyi Wang, Ruijin Zhang, Hao Li, Xiong Gan","doi":"10.3389/fped.2026.1747055","DOIUrl":"https://doi.org/10.3389/fped.2026.1747055","url":null,"abstract":"<p><strong>Introduction: </strong>School bullying has become an important social problem among adolescents, it can influence the growth of individual, yet understanding of the impacts of school bullying is limited. The present study determined to investigate whether and how school bullying can influence adolescent social adaptation.</p><p><strong>Methods: </strong>Structural equation modeling was used to assess the hypothesized model. A sample of 434 Chinese adolescents (56.9% females), with an average age of 13.07 years (SD = 0.93), participated the survey.</p><p><strong>Results: </strong>The present study combined self-disclosure and school connectedness into a serial mediation model, highlighting the role of individual and environmental factors in the outcomes of school bullying.</p><p><strong>Discussion: </strong>These findings suggest that adolescents who engage in bullying are less likely to disclose personal information, which in turn hinders their sense of belonging at school, ultimately impairing their positive social adaptation. The results highlight the interplay between individual (self-disclosure) and environmental (school connectedness) factors in the outcomes of school bullying. Both limitations and implications are discussed in the end.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"14 ","pages":"1747055"},"PeriodicalIF":2.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12982461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147467721","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
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Frontiers in Pediatrics
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