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Peripheral immune indicators and their predictive value in disease progression or relapse of pediatric Langerhans cell histiocytosis 外周免疫指标及其在儿童朗格汉斯细胞组织细胞增多症疾病进展或复发中的预测价值
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.jped.2025.101466
Hua-Lin Li , Hong-Yun Lian , Wen-Yu Gong , Shuo Tian , Wei-Jing Li , Qing Zhang , Chan-Juan Wang , Hong-Hao Ma , Dong Wang , Yun-Ze Zhao , Zi-Jing Zhao , Jia-Jia Dong , Zhi-Gang Li , Rui Zhang , Lei Cui

Objective

Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplasm in which the inflammatory microenvironment plays a crucial role in the development and progression of disease. The prognostic value of circulating lymphocyte subsets and cytokines remains uncertain.

Methods

The authors retrospectively analyzed baseline peripheral lymphocyte subsets and serum cytokines in 330 consecutive pediatric patients. Immune profiles were compared across disease extent, clinical events, and biological features. Prognostic associations with progression-free survival (PFS) were tested using univariable and multivariable models.

Results

Peripheral immune profiles varied with disease extent. Patients with multisystem risk-organ involvement (MS RO+) had fewer total T and Th1 cells, more CD4⁺ T and B cells, and higher IL-6, IL-10, and IFN-γ. Patients who progressed or relapsed showed a similar pattern, and non-survivors had particularly high IL-10. In the first-line cohort, the proportions of T, B, CD4⁺ T, CD8⁺ T, and Th1 cells, ratios of CD4/CD8 and Th1/Th2, and levels of IL-6, IL-10 predicted progression/relapse, and Youden-derived cut-offs dichotomized with distinct PFS. On multivariable Cox, IL-6, IL-10, Th1/Th2 ratio, RO status, and week-6 responses were independent predictors, and a nomogram model with good predictive capability was formed. IL-10 remained independently prognostic in multisystem LCH; the immune indices were not prognostic in single-system LCH. External validation in 103 patients confirmed risk stratification and model performance with well-calibrated PFS estimates.

Conclusion

Baseline peripheral lymphocyte subsets and cytokines carried prognostic information in pediatric LCH. The IL-6, IL-10, and Th1/Th2 profile supported risk stratification and may inform treatment planning.
目的:朗格汉斯细胞组织细胞增多症(LCH)是一种罕见的炎性髓系肿瘤,炎症微环境在疾病的发生和进展中起着至关重要的作用。循环淋巴细胞亚群和细胞因子的预后价值仍不确定。方法:作者回顾性分析330例连续儿科患者的基线外周血淋巴细胞亚群和血清细胞因子。通过疾病程度、临床事件和生物学特征比较免疫谱。使用单变量和多变量模型测试与无进展生存期(PFS)的预后关联。结果:外周免疫谱随疾病程度而变化。多系统危险器官受累(MS RO+)患者总T和Th1细胞较少,CD4 + T和B细胞较多,IL-6、IL-10和IFN-γ较高。进展或复发的患者表现出类似的模式,非幸存者的IL-10特别高。在一线队列中,T、B、CD4 + T、CD8 + T和Th1细胞的比例、CD4/CD8和Th1/Th2的比值以及IL-6、IL-10的水平预测了进展/复发,并且youden衍生的截断值具有不同的PFS。在多变量Cox上,IL-6、IL-10、Th1/Th2比值、RO状态、第6周反应为独立预测因子,形成了预测能力较好的nomogram模型。IL-10仍然是多系统LCH的独立预后因素;单系统LCH的免疫指标不能预测预后。103例患者的外部验证证实了风险分层和模型性能,校准良好的PFS估计。结论:基线外周淋巴细胞亚群和细胞因子承载着儿童LCH的预后信息。IL-6、IL-10和Th1/Th2谱支持风险分层,并可能为治疗计划提供信息。
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引用次数: 0
Translation and cross-cultural adaptation of the Dubowitz Neurological Examination for premature infants in a high-risk outpatient clinic in Brazil 巴西一家高危门诊早产儿Dubowitz神经学检查的翻译与跨文化适应
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.jped.2025.101460
Ana Clara D. Massarollo , Guilherme W. Wendt , Lirane E.D. Ferreto , Ana P. Vieira , Gisele Arruda , Joseane R. da S. Nobre , Marina D. Massarollo , Débora M. Mazzo , Elizamara E.P. Segala , Claudicéia R. Pascotto , Franciele A.C. Follador

Objective

This study aimed to translate and cross-culturally adapt the Dubowitz Neurological Examination (DNE) instrument into Brazilian Portuguese for the neurological assessment of preterm newborns (PTNBs), as well as to evaluate its psychometric properties.

Method

This is a methodological study of translation and cross-cultural adaptation. The methodological process consisted of two forward translations from the original to the target language, a synthesis of the translations, two back-translations, an evaluation by an expert committee, pre-testing, and the development and application of the final version in 40 PTNBs followed at a high-risk outpatient clinic.

Results

Concordance among experts was 98.03 %, the intraclass correlation was 0.81, the content validity index (CVI) was 0.96 and the Kappa coefficient value was 0.76, indicating substantial agreement. Furthermore, the internal consistency indices were considered acceptable (α = 0.75). The comprehension of the 34 instrument items during the pre-test phase ranged from 82 % to 100 %.

Conclusions

DNE was adequately translated and adapted for Brazilian culture, showing evidence of semantic, idiomatic, and conceptual equivalence. The results demonstrate satisfactory internal consistency and high inter-rater agreement.
目的:本研究旨在将Dubowitz神经系统检查(DNE)仪器翻译成巴西葡萄牙语用于早产儿(PTNBs)的神经系统评估,并评估其心理测量特性。方法:对翻译和跨文化适应进行方法学研究。方法过程包括从原始语言到目标语言的两次正向翻译、翻译的综合、两次反向翻译、专家委员会的评估、预测试以及在一家高风险门诊诊所进行的40个ptnb中开发和应用最终版本。结果:专家之间的一致性为98.03 %,类内相关性为0.81,内容效度指数(CVI)为0.96,Kappa系数值为0.76,一致性较好。此外,内部一致性指标被认为是可接受的(α = 0.75)。在预测阶段,对34个仪器项目的理解程度在82% %到100% %之间。结论:DNE被充分翻译并适应了巴西文化,显示出语义、习惯用语和概念对等的证据。结果显示了令人满意的内部一致性和较高的评级间一致性。
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引用次数: 0
Palliative extubation in pediatrics: a scoping review 姑息拔管在儿科:范围审查。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.jped.2025.101468
Carolina de Araújo Affonseca , Luís Fernando Andrade de Carvalho , Lêni Márcia Anchieta

Objective

To evaluate evidence in the literature on palliative extubation in pediatrics in the context of palliative care, in any healthcare setting, to synthesize knowledge, identify gaps, and highlight future research opportunities.

Data sources

The PRISMA-ScR recommendations and the JBI Collaboration method were used. Searches were conducted in: Virtual Health Library, PubMed, Scopus, Embase, Cochrane Library and Web of Science. The following strategy was used: Population - children and adolescents (0 to 18 years) undergoing invasive mechanical ventilation; Concept - practices, experiences, or approaches related to palliative extubation; Context - palliative care in a hospital, hospice or home setting. Original articles published up to April 2025 were included; those that didn’t define age or were over 18 years, opinion pieces, editorials, and conference proceedings were excluded. Two independent reviewers extracted the data; discrepancies were resolved by consensus or with a third reviewer. The quality of the studies was assessed using the critical appraisal tools recommended by the JBI.

Data synthesis

Twelve articles were selected: eight case reports and four cross-sectional studies, totaling 129 patients; 128 were analyzed. In 78.1% of cases, palliative extubation was performed in a hospital setting, mainly in the ICU (72.6%); 93% used an endotracheal tube; 95.3% received analgesia/sedation around the time of extubation; 90.6% died after support withdrawn.

Conclusions

Knowledge of practices, experiences, and challenges related to palliative extubation in pediatrics is essential to support clinical decision-making and ensure that it is performed in a timely, responsible, and technically appropriate manner, following the principles of palliative care.
目的:评价在任何医疗机构姑息治疗背景下儿科姑息拔管的文献证据,以综合知识,找出差距,并强调未来的研究机会。数据来源:采用PRISMA-ScR推荐和JBI协作方法。检索对象包括:Virtual Health Library, PubMed, Scopus, Embase, Cochrane Library和Web of Science。采用以下策略:人群:接受有创机械通气的儿童和青少年(0至18岁);概念:与姑息拔管相关的实践、经验或方法;背景:医院、临终关怀或家庭环境中的姑息治疗。包括截至2025年4月发表的原创文章;那些没有定义年龄或超过18岁的文章、评论文章、社论和会议记录都被排除在外。两名独立的审稿人提取了数据;差异通过协商一致或与第三审稿人解决。使用JBI推荐的关键评估工具评估研究的质量。资料综合:选取12篇文献:8篇病例报告和4篇横断面研究,共计129例患者;分析了128例。在78.1%的病例中,姑息拔管是在医院进行的,主要是在ICU (72.6%);93%使用气管内插管;95.3%的患者在拔管前后接受了镇痛/镇静;90.6%的人在撤销支持后死亡。结论:了解与儿科姑息拔管相关的实践、经验和挑战对于支持临床决策至关重要,并确保按照姑息治疗原则及时、负责任和技术上适当的方式进行拔管。
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引用次数: 0
Dietary and nutritional interventions in the treatment of childhood neuropsychiatric disorders: evidence and myths 饮食和营养干预治疗儿童神经精神疾病:证据和神话。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-30 DOI: 10.1016/j.jped.2025.101465
Regina Torres Duarte Kostenko , Nathalia Ferreira Antunes de Almeida , Juliana Fernandez Santana e Meneses

Objective

To analyze the current scientific literature on the main dietary and nutritional interventions proposed for children and adolescents with neuropsychiatric disorders and describe their efficacy and safety, differentiating evidence-based practices from common myths.

Data source

The search was conducted using PubMed, SciELO, Cochrane, and Web of Science databases (2019–2025). The specific terms used in the search were formulated to encompass dietary interventions in children and adolescents with neuropsychiatric disorders and their outcomes.

Data synthesis

Gluten-free and casein-free (GFCF) diets did not reduce ASD symptoms and should be reserved for confirmed allergy or intolerance. Probiotics have shown inconsistent results for core ASD/ADHD symptoms, although they may alleviate gastrointestinal complaints in subgroups. Omega-3 s have shown modest and heterogeneous effects; In ADHD, high-dose EPA may improve attention when baseline levels are low, without consistent benefit in other domains. N-acetylcysteine reduced irritability in some trials, with no consistent effect on core symptoms. Folinic acid showed benefits in subgroups defined by biomarkers (folate receptor autoantibodies) and in ASD with language impairment, but this needs to be confirmed in larger studies. For vitamin D, high rates of insufficiency and possible modest gains in sub-outcomes were observed, with methodological heterogeneity.

Conclusions

This literature review showed that there is no scientific support for generalized dietary interventions, such as restrictive diets or nutritional supplementation, in the treatment of childhood neuropsychiatric disorders. Current evidence suggests the need for individualization and continuous monitoring. Specific interventions are justified only in the case of documented nutritional deficiencies.
目的:分析目前关于儿童和青少年神经精神障碍的主要饮食和营养干预措施的科学文献,描述其有效性和安全性,区分循证实践和常见神话。数据来源:检索使用PubMed、SciELO、Cochrane和Web of Science数据库(2019-2025)。在搜索中使用的具体术语是制定的,以涵盖患有神经精神疾病的儿童和青少年的饮食干预及其结果。数据综合:无麸质和无酪蛋白(GFCF)饮食不能减轻ASD症状,应保留给确认过敏或不耐受的患者。益生菌对核心ASD/ADHD症状的治疗结果不一致,尽管它们可能减轻亚组的胃肠道症状。Omega-3 显示出适度和异质性的影响;在ADHD中,当基线水平较低时,大剂量EPA可能会改善注意力,但在其他领域没有一致的益处。n -乙酰半胱氨酸在一些试验中减少了易怒,但对核心症状没有一致的影响。叶酸在生物标志物(叶酸受体自身抗体)定义的亚组和伴有语言障碍的ASD中显示出益处,但这需要在更大规模的研究中得到证实。对于维生素D,观察到较高的不足率和可能适度的亚结局,方法上存在异质性。结论:本文献综述显示,在儿童神经精神疾病的治疗中,没有科学支持广泛的饮食干预,如限制性饮食或营养补充。目前的证据表明需要个体化和持续监测。具体的干预措施只有在有记录的营养缺乏的情况下才有理由。
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引用次数: 0
Myths and facts in the treatment of neurodevelopmental disorders – other therapies 治疗神经发育障碍的神话和事实-其他疗法。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-29 DOI: 10.1016/j.jped.2025.101452
Chaves Livio Francisco S. , Pessoa Fabio Borges , Marques Pedro Henrique Resende

Objective

To critically examine the effectiveness of complementary and alternative therapies (CATs) in the treatment of neurodevelopmental disorders, distinguishing myths from evidence-based practices and supporting informed therapeutic decision-making for healthcare professionals, educators, and families.

Data sources

Evidence was collected from PubMed, Scopus, and Web of Science up to August 2025. Systematic reviews, meta-analyses, and international consensus statements addressing attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), specific learning disorders, communication and language disorders, intellectual disability, and developmental coordination disorder were included.

Summary of findings

Interest in interventions such as neurofeedback, transcranial direct current stimulation, music therapy, equine-assisted therapy, virtual reality, and gamification has grown substantially. However, most of these approaches lack methodological standardization and robust evidence to justify their use as primary treatments. Some demonstrate modest benefits as adjunctive strategies, especially when integrated into structured programs and supervised by multidisciplinary teams. Conversely, therapies including acupuncture, ozone therapy, and hyperbaric oxygen therapy present insufficient scientific support and should not be considered substitutes for validated methods.

Conclusion

Complementary and alternative therapies remain a topic of significant debate in the management of neurodevelopmental disorders. While certain approaches may offer limited adjunctive benefits, their clinical use should be carefully evaluated within evidence-based frameworks. The development of rigorous evaluations, standardized protocols, and the safe integration of innovative technologies is essential to optimize therapeutic outcomes without compromising access to scientifically validated interventions.
目的:严格检查补充和替代疗法(cat)治疗神经发育障碍的有效性,从循证实践中区分神话,并为医疗保健专业人员、教育工作者和家庭提供知情的治疗决策支持。数据来源:证据收集自PubMed、Scopus和Web of Science,截止到2025年8月。包括针对注意缺陷/多动障碍(ADHD)、自闭症谱系障碍(ASD)、特定学习障碍、沟通和语言障碍、智力残疾和发育协调障碍的系统综述、荟萃分析和国际共识声明。研究结果总结:对神经反馈、经颅直流电刺激、音乐治疗、马辅助治疗、虚拟现实和游戏化等干预措施的兴趣大幅增长。然而,这些方法大多缺乏方法学的标准化和强有力的证据来证明它们作为主要治疗的合理性。一些辅助策略显示出适度的好处,特别是当整合到结构化项目中并由多学科团队监督时。相反,包括针灸、臭氧治疗和高压氧治疗在内的治疗方法缺乏科学依据,不应被视为有效方法的替代品。结论:在神经发育障碍的治疗中,补充和替代疗法仍然是一个有重大争议的话题。虽然某些方法可能提供有限的辅助益处,但应在循证框架内仔细评估其临床应用。制定严格的评估、标准化的方案和创新技术的安全整合对于优化治疗结果而不影响获得科学验证的干预措施至关重要。
{"title":"Myths and facts in the treatment of neurodevelopmental disorders – other therapies","authors":"Chaves Livio Francisco S. ,&nbsp;Pessoa Fabio Borges ,&nbsp;Marques Pedro Henrique Resende","doi":"10.1016/j.jped.2025.101452","DOIUrl":"10.1016/j.jped.2025.101452","url":null,"abstract":"<div><h3>Objective</h3><div>To critically examine the effectiveness of complementary and alternative therapies (CATs) in the treatment of neurodevelopmental disorders, distinguishing myths from evidence-based practices and supporting informed therapeutic decision-making for healthcare professionals, educators, and families.</div></div><div><h3>Data sources</h3><div>Evidence was collected from PubMed, Scopus, and Web of Science up to August 2025. Systematic reviews, meta-analyses, and international consensus statements addressing attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), specific learning disorders, communication and language disorders, intellectual disability, and developmental coordination disorder were included.</div></div><div><h3>Summary of findings</h3><div>Interest in interventions such as neurofeedback, transcranial direct current stimulation, music therapy, equine-assisted therapy, virtual reality, and gamification has grown substantially. However, most of these approaches lack methodological standardization and robust evidence to justify their use as primary treatments. Some demonstrate modest benefits as adjunctive strategies, especially when integrated into structured programs and supervised by multidisciplinary teams. Conversely, therapies including acupuncture, ozone therapy, and hyperbaric oxygen therapy present insufficient scientific support and should not be considered substitutes for validated methods.</div></div><div><h3>Conclusion</h3><div>Complementary and alternative therapies remain a topic of significant debate in the management of neurodevelopmental disorders. While certain approaches may offer limited adjunctive benefits, their clinical use should be carefully evaluated within evidence-based frameworks. The development of rigorous evaluations, standardized protocols, and the safe integration of innovative technologies is essential to optimize therapeutic outcomes without compromising access to scientifically validated interventions.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"102 ","pages":"Article 101452"},"PeriodicalIF":2.5,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transdiagnostic irritability in youth: a clinical review 青少年易激惹症的临床回顾。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-28 DOI: 10.1016/j.jped.2025.101457
Luiza Magalhaes de Oliveira, Guilherme V. Polanczyk, Luisa Shiguemi Sugaya

Objective

Irritability is one of the most frequent concerns in pediatric mental health and a predictor of long-term psychopathology and burden. This article aims to provide a comprehensive review of non-episodic irritability along with evidence-based clinical recommendations for pediatric care professionals.

Sources

A narrative review was conducted based on the literature from the last 10 years and additional key studies. Observational studies, randomized controlled trials, systematic reviews, and meta-analyses were considered.

Summary of the findings

Non-episodic irritability is a transdiagnostic construct associated with several mental disorders. Research on etiological pathways suggests that irritability may involve distinct mechanisms, moderate heritability, and genetic associations with attention-deficit/hyperactivity disorder (ADHD), and depression. Clinical manifestations vary across different developmental stages, and distinguishing pathological from normative irritability may be challenging. Although there is no gold-standard measure, validated instruments are available. Despite recent advances, evidence-based treatment remains limited. Evidence supports psychosocial interventions that integrate parent- and child-focused components, as well as the use of stimulants for patients with comorbid ADHD. Antipsychotics are effective in reducing irritability in children with autism spectrum disorder. However, its use requires caution in non-autistic youth with irritability without a diagnosable disorder or with oppositional defiant disorder due to inconclusive efficacy and potential adverse effects.

Conclusions

Although publications on non-episodic irritability have increased, the evidence remains relatively nascent. Further research is needed to advance the knowledge on underlying mechanisms, enhance clinical recognition, identify effective interventions, and support the development of new treatments, ensuring that irritability is adequately addressed in clinical practice.
目的:易怒是儿童心理健康中最常见的问题之一,也是长期精神病理和负担的预测因子。本文旨在为儿科护理专业人员提供非发作性易怒的综合综述以及循证临床建议。资料来源:根据近10年的文献和其他重要研究进行了叙述性回顾。我们考虑了观察性研究、随机对照试验、系统评价和荟萃分析。研究结果总结:非发作性易怒是一种与多种精神障碍相关的跨诊断结构。对病因途径的研究表明,易怒可能涉及不同的机制,适度的遗传性,以及与注意缺陷多动障碍(ADHD)和抑郁症的遗传关联。不同发育阶段的临床表现各不相同,区分病理性和规范性易怒可能具有挑战性。虽然没有金标准的测量方法,但是可以使用经过验证的仪器。尽管最近取得了进展,但循证治疗仍然有限。证据支持将以父母和儿童为重点的成分结合起来的社会心理干预措施,以及对患有共病性多动症的患者使用兴奋剂。抗精神病药物在减少自闭症谱系障碍儿童的易怒方面是有效的。然而,由于不确定的疗效和潜在的不良反应,在没有诊断障碍的非自闭症青少年中使用它需要谨慎。结论:尽管关于非发作性易怒的出版物有所增加,但证据仍然相对较少。需要进一步的研究来推进对潜在机制的了解,增强临床认识,确定有效的干预措施,并支持新治疗方法的发展,确保在临床实践中充分解决烦躁不安问题。
{"title":"Transdiagnostic irritability in youth: a clinical review","authors":"Luiza Magalhaes de Oliveira,&nbsp;Guilherme V. Polanczyk,&nbsp;Luisa Shiguemi Sugaya","doi":"10.1016/j.jped.2025.101457","DOIUrl":"10.1016/j.jped.2025.101457","url":null,"abstract":"<div><h3>Objective</h3><div>Irritability is one of the most frequent concerns in pediatric mental health and a predictor of long-term psychopathology and burden. This article aims to provide a comprehensive review of non-episodic irritability along with evidence-based clinical recommendations for pediatric care professionals.</div></div><div><h3>Sources</h3><div>A narrative review was conducted based on the literature from the last 10 years and additional key studies. Observational studies, randomized controlled trials, systematic reviews, and meta-analyses were considered.</div></div><div><h3>Summary of the findings</h3><div>Non-episodic irritability is a transdiagnostic construct associated with several mental disorders. Research on etiological pathways suggests that irritability may involve distinct mechanisms, moderate heritability, and genetic associations with attention-deficit/hyperactivity disorder (ADHD), and depression. Clinical manifestations vary across different developmental stages, and distinguishing pathological from normative irritability may be challenging. Although there is no gold-standard measure, validated instruments are available. Despite recent advances, evidence-based treatment remains limited. Evidence supports psychosocial interventions that integrate parent- and child-focused components, as well as the use of stimulants for patients with comorbid ADHD. Antipsychotics are effective in reducing irritability in children with autism spectrum disorder. However, its use requires caution in non-autistic youth with irritability without a diagnosable disorder or with oppositional defiant disorder due to inconclusive efficacy and potential adverse effects.</div></div><div><h3>Conclusions</h3><div>Although publications on non-episodic irritability have increased, the evidence remains relatively nascent. Further research is needed to advance the knowledge on underlying mechanisms, enhance clinical recognition, identify effective interventions, and support the development of new treatments, ensuring that irritability is adequately addressed in clinical practice.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"102 ","pages":"Article 101457"},"PeriodicalIF":2.5,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transition to adolescence in neurodevelopmental disorders: challenges and clinical perspectives 神经发育障碍的青春期过渡:挑战和临床观点。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-24 DOI: 10.1016/j.jped.2025.101463
Eduardo Jorge Custódio da Silva , Evelyn Eisenstein

Objective

This review article describes the main clinical, emotional, educational, and social aspects involved in the transition to adolescence for individuals with these conditions. It also addresses implications for healthcare, the continuity of educational support, and the importance of individualized transition strategies, highlighting the need for a multidisciplinary approach centered on the individual and on continuity of care.

Data sources

Review of the latest literature on neurodevelopmental disorders in adolescents.

Data summary

Adolescence represents a vital period of biopsychosocial transformation, particularly challenging for individuals with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability.

Conclusions

Integrated, person-centered, continuous, and collaborative health care is essential to promote the well-being and inclusion of these adolescents.
目的:这篇综述文章描述了主要的临床,情感,教育和社会方面涉及到这些条件的个体过渡到青春期。它还讨论了对医疗保健的影响、教育支持的连续性以及个性化过渡战略的重要性,强调了以个人和护理连续性为中心的多学科方法的必要性。资料来源:关于青少年神经发育障碍的最新文献综述。数据摘要:青春期是生物心理社会转变的关键时期,对于神经发育障碍(ndd)患者,如自闭症谱系障碍(ASD)、注意力缺陷/多动障碍(ADHD)和智力残疾患者来说,这一时期尤其具有挑战性。结论:综合的、以人为本的、持续的、协作的卫生保健对促进这些青少年的福祉和包容性至关重要。
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引用次数: 0
Pediatric Stevens–Johnson syndrome and toxic epidermal necrolysis: age-stratified insights from the FAERS database 儿童史蒂文斯-约翰逊综合征和中毒性表皮坏死松解症:来自FAERS数据库的年龄分层见解。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-23 DOI: 10.1016/j.jped.2025.101455
Dilara Bayram-Ozgur , Onur Colak , Onur Gultekin , Narin Akici , Zehra Esra Onal , Ahmet Akici

Objective

Stevens–Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but severe cutaneous adverse drug reactions, particularly concerning in pediatric populations due to their unique etiologies, clinical outcomes, and long-term complications. This study aims to examine pediatric cases of SJS/TEN reported in the U.S. FDA’s FAERS database, focusing on age-stratified patterns and drug associations.

Method

A retrospective cross-sectional analysis was conducted using FAERS reports submitted until the end of 2024. Pediatric cases (0–17 years) with a diagnosis of SJS or TEN and a single suspected drug were included. Reports were analyzed by age group (0–11 and 12–17 years), gender, and drug classification using ATC codes. Statistical analyses assessed associations between demographic groups and implicated medications.

Results

Out of 2673 pediatric reports, 67.4 % involved SJS and 32.6 % TEN. The majority (62.3 %) were in the 0–11 age group. Nervous system agents—especially antiepileptics—were predominantly associated with older children, while systemic antiinfectives such as amoxicillin, azithromycin, and cefaclor were more frequent in younger children. Lamotrigine showed both age groups and female predominance. Conversely, paracetamol and ibuprofen were significantly associated with the TEN phenotypes in younger males.

Conclusions

The study reveals clear age- and drug-specific patterns in pediatric SJS/TEN. Findings emphasize the importance of age-stratified pharmacovigilance issues and cautious prescribing of high-risk drugs such as lamotrigine and antibiotics. Better awareness of potential biases, such as protopathic misattribution, is crucial for accurate signal detection in pediatric pharmacovigilance.
目的:Stevens-Johnson综合征(SJS)和中毒性表皮坏死松解症(TEN)是罕见但严重的皮肤药物不良反应,由于其独特的病因、临床结局和长期并发症,在儿科人群中尤其受到关注。本研究旨在检查美国FDA FAERS数据库中报告的SJS/TEN儿科病例,重点关注年龄分层模式和药物相关性。方法:采用截至2024年底的FAERS报告进行回顾性横断面分析。诊断为SJS或TEN且使用单一可疑药物的儿童病例(0-17岁)被纳入研究。报告按年龄组(0-11岁和12-17岁)、性别和使用ATC代码的药物分类进行分析。统计分析评估了人口群体与相关药物之间的关联。结果:在2673份儿科报告中,67.4% %涉及SJS, 32.6% %涉及TEN。大多数(62.3 %)是0-11岁年龄组。神经系统药物——尤其是抗癫痫药物——主要与年龄较大的儿童有关,而全身性抗感染药物,如阿莫西林、阿奇霉素和头孢克洛在年龄较小的儿童中更常见。拉莫三嗪在不同年龄组和女性中均有优势。相反,扑热息痛和布洛芬与年轻男性的TEN表型显著相关。结论:该研究揭示了儿童SJS/TEN明确的年龄和药物特异性模式。研究结果强调了按年龄分层的药物警戒问题和谨慎开高风险药物如拉莫三嗪和抗生素的重要性。更好地意识到潜在的偏差,如原发错误归因,对于儿科药物警戒中准确的信号检测至关重要。
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引用次数: 0
Diagnostic yield of array-CGH in children with suspected rare disease 阵列- cgh在疑似罕见病患儿中的诊断率。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-17 DOI: 10.1016/j.jped.2025.101450
M. Carla Criado-Muriel , Ramón Arroyo-Ruiz , Elena Marcos-Vadillo , María Justel-Rodriguez , Lydia Alcubilla-García , María Isidoro-García , Pablo Prieto-Matos

Objective

This study aims to analyze the diagnostic yield of aCGH in pediatric patients with suspected rare diseases, focusing on its diagnostic value and effectiveness depending on different clinical symptoms.

Methods

This observational study analyzed 600 aCGH tests performed in a pediatric unit (2018–2022) for patients with suspected rare diseases. DNA was extracted from peripheral blood; aCGH resolution was adjusted to clinical features. CNVs were classified per international guidelines. Forty sociodemographic, clinical, and genetic variables were analyzed using IBM SPSS v.26.

Results

Of the 600 patients analyzed, 543 were included in the final study. The median age was 4.7 years (IQR: 6.36 years), and 66.3% were male. Most referrals came from pediatric neurology (84.3%), and the most common clinical manifestations were altered phenotype (38.6%), autism spectrum disorder (ASD) (38.6%), dysmorphia (28.2%), global developmental delay (GDD) (27.1%), and intellectual disability (21.0%). Among 543 patients, 30.4% presented CNVs, with 12.4% identified as pathogenic and 18.1% as variants of uncertain significance. Diagnostic yield was 12.2%, with 66 conclusive results — 90.9% of which were pathogenic. CNVs were most frequently detected on chromosomes 15 and 16. The highest yield was observed in clinical features such as coordination problems (35.7%), learning disorders (28.6%), and microcephaly (22.6%).

Conclusion

The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.
目的:本研究旨在分析aCGH对小儿疑似罕见病患者的诊断率,重点分析其根据不同临床症状的诊断价值和有效性。方法:本观察性研究分析了在儿科(2018-2022)对疑似罕见病患者进行的600例aCGH检测。提取外周血DNA;根据临床特征调整aCGH分辨率。根据国际准则对CNVs进行分类。使用IBM SPSS v.26对40个社会人口学、临床和遗传变量进行分析。结果:在分析的600例患者中,543例纳入最终研究。中位年龄4.7岁(IQR: 6.36岁),66.3%为男性。大多数转诊来自儿科神经病学(84.3%),最常见的临床表现是表型改变(38.6%)、自闭症谱系障碍(38.6%)、畸形(28.2%)、整体发育迟缓(27.1%)和智力障碍(21.0%)。在543例患者中,30.4%出现CNVs,其中12.4%被确定为致病性变异,18.1%为意义不确定的变异。确诊率为12.2%,有66例结论性结果,其中90.9%为致病结果。在第15和16号染色体上最常检测到CNVs。在协调问题(35.7%)、学习障碍(28.6%)和小头畸形(22.6%)等临床特征中,发生率最高。结论:本研究aCGH的诊断率为12.2%。该检测对具有多种临床表现的患者具有较高的诊断价值,突出了aCGH作为罕见病一线诊断工具的重要性。这项技术可以早期诊断,改善临床管理,并为受影响的家庭提供更好的咨询。
{"title":"Diagnostic yield of array-CGH in children with suspected rare disease","authors":"M. Carla Criado-Muriel ,&nbsp;Ramón Arroyo-Ruiz ,&nbsp;Elena Marcos-Vadillo ,&nbsp;María Justel-Rodriguez ,&nbsp;Lydia Alcubilla-García ,&nbsp;María Isidoro-García ,&nbsp;Pablo Prieto-Matos","doi":"10.1016/j.jped.2025.101450","DOIUrl":"10.1016/j.jped.2025.101450","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to analyze the diagnostic yield of aCGH in pediatric patients with suspected rare diseases, focusing on its diagnostic value and effectiveness depending on different clinical symptoms.</div></div><div><h3>Methods</h3><div>This observational study analyzed 600 aCGH tests performed in a pediatric unit (2018–2022) for patients with suspected rare diseases. DNA was extracted from peripheral blood; aCGH resolution was adjusted to clinical features. CNVs were classified per international guidelines. Forty sociodemographic, clinical, and genetic variables were analyzed using IBM SPSS v.26.</div></div><div><h3>Results</h3><div>Of the 600 patients analyzed, 543 were included in the final study. The median age was 4.7 years (IQR: 6.36 years), and 66.3% were male. Most referrals came from pediatric neurology (84.3%), and the most common clinical manifestations were altered phenotype (38.6%), autism spectrum disorder (ASD) (38.6%), dysmorphia (28.2%), global developmental delay (GDD) (27.1%), and intellectual disability (21.0%). Among 543 patients, 30.4% presented CNVs, with 12.4% identified as pathogenic and 18.1% as variants of uncertain significance. Diagnostic yield was 12.2%, with 66 conclusive results — 90.9% of which were pathogenic. CNVs were most frequently detected on chromosomes 15 and 16. The highest yield was observed in clinical features such as coordination problems (35.7%), learning disorders (28.6%), and microcephaly (22.6%).</div></div><div><h3>Conclusion</h3><div>The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 6","pages":"Article 101450"},"PeriodicalIF":2.5,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality improvement initiative to reduce late-onset sepsis in very low birth weight preterm infants: a multicenter study from the Brazilian network on neonatal research 质量改善倡议,以减少迟发性脓毒症在极低出生体重早产儿:一项多中心研究从巴西网络新生儿研究。
IF 2.5 4区 医学 Q1 PEDIATRICS Pub Date : 2025-10-15 DOI: 10.1016/j.jped.2025.101459
Ligia Maria Suppo de Souza Rugolo , Maria Regina Bentlin , Fernanda Pegoraro de Godoi Melo , Maria Eduarda Gurgel , Gabriella Miranda Martins , Suely Dornellas do Nascimento , Edna Maria de Albuquerque Diniz , Renata Yoshida , Jamil Pedro de Siqueira Caldas , Silvia Cwajg , Marcia Pereira Alves de Souza , Clarissa Gutierrez Carvalho , Daniela Marques de Lima Mota Ferreira

Objective

To evaluate the impact of a quality improvement project (QI) on reducing proven late-onset sepsis (LOS) in centers of the Brazilian Network Neonatal Research (BNNR).

Method

An interventional study conducted in 12 BNNR centers from 2021 to 2023. Included preterm infants (PT) born at 22–36 weeks' gestational age, weighing 400–1499 grams, without malformations, and admitted to the NICU for > 72 h. QI tools were used and four process indicators were defined: central catheter complication (≤ 20 %); antibiotic discontinuation ≤48 h in non-infected infants (≥ 80 %); breast milk expression within the first 48 h and enteral feeding within the first 24 h of life (≥ 80 %); full enteral feeding without parenteral nutrition by day 11 (≥ 70 %). The outcome was the proportional reduction of LOS according to each center’s baseline (2020). Indicators were analyzed descriptively across three periods.

Results

A total of 1993 PT < 1500 grams were included. Half of the centers achieved the target for umbilical catheter complications, and 92 % for percutaneous catheters. Antibiotics were discontinued within 48 h in 67 % of non-infected infants. Early breast milk expression and enteral feeding were achieved in 44 % and 75 % of cases, respectively. 58 % achieved full enteral nutrition without parenteral support by day 11. LOS incidence declined in 67 % of centers, and half met their targets, with an overall 18.5 % reduction.

Conclusions

The project reduced LOS in most centers, although some clinical practices still need improvement. It demonstrates a reproducible, low-cost strategy with the potential to guide other neonatal units facing high sepsis incidence.
目的:评估巴西新生儿研究网络(BNNR)中心的质量改进项目(QI)对减少已证实的晚发型脓毒症(LOS)的影响。方法:于2021 - 2023年在12个BNNR中心进行介入研究。纳入胎龄22-36周出生、体重400-1499克、无畸形、入住NICU时间为bb0 72 h的早产儿(PT)。采用QI工具,定义4个过程指标:中心导管并发症(≤20 %);未感染婴儿停药≤48 h(≥80 %);出生后48小时内母乳表达和24小时内肠内喂养(≥80 %);第11天完全肠内喂养,不进行肠外营养(≥70 %)。结果是根据每个中心的基线(2020年)按比例降低LOS。对三个时期的指标进行了描述性分析。结果:共纳入PT < 1500 g者1993例。一半的中心达到了脐导管并发症的目标,92%的中心达到了经皮导管的目标 %。67% %未感染婴儿在48小时内停用抗生素。早期母乳表达率为44. %,肠内喂养率为75. %。58% %在第11天达到完全肠内营养,无需肠外支持。在67% %的中心,LOS发生率下降,其中一半达到了目标,总体降低18.5% %。结论:该项目降低了大多数中心的LOS,尽管一些临床实践仍需改进。它展示了一种可重复的、低成本的策略,有可能指导其他面临高脓毒症发病率的新生儿单位。
{"title":"Quality improvement initiative to reduce late-onset sepsis in very low birth weight preterm infants: a multicenter study from the Brazilian network on neonatal research","authors":"Ligia Maria Suppo de Souza Rugolo ,&nbsp;Maria Regina Bentlin ,&nbsp;Fernanda Pegoraro de Godoi Melo ,&nbsp;Maria Eduarda Gurgel ,&nbsp;Gabriella Miranda Martins ,&nbsp;Suely Dornellas do Nascimento ,&nbsp;Edna Maria de Albuquerque Diniz ,&nbsp;Renata Yoshida ,&nbsp;Jamil Pedro de Siqueira Caldas ,&nbsp;Silvia Cwajg ,&nbsp;Marcia Pereira Alves de Souza ,&nbsp;Clarissa Gutierrez Carvalho ,&nbsp;Daniela Marques de Lima Mota Ferreira","doi":"10.1016/j.jped.2025.101459","DOIUrl":"10.1016/j.jped.2025.101459","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the impact of a quality improvement project (QI) on reducing proven late-onset sepsis (LOS) in centers of the Brazilian Network Neonatal Research (BNNR).</div></div><div><h3>Method</h3><div>An interventional study conducted in 12 BNNR centers from 2021 to 2023. Included preterm infants (PT) born at 22–36 weeks' gestational age, weighing 400–1499 grams, without malformations, and admitted to the NICU for &gt; 72 h. QI tools were used and four process indicators were defined: central catheter complication (≤ 20 %); antibiotic discontinuation ≤48 h in non-infected infants (≥ 80 %); breast milk expression within the first 48 h and enteral feeding within the first 24 h of life (≥ 80 %); full enteral feeding without parenteral nutrition by day 11 (≥ 70 %). The outcome was the proportional reduction of LOS according to each center’s baseline (2020). Indicators were analyzed descriptively across three periods.</div></div><div><h3>Results</h3><div>A total of 1993 PT &lt; 1500 grams were included. Half of the centers achieved the target for umbilical catheter complications, and 92 % for percutaneous catheters. Antibiotics were discontinued within 48 h in 67 % of non-infected infants. Early breast milk expression and enteral feeding were achieved in 44 % and 75 % of cases, respectively. 58 % achieved full enteral nutrition without parenteral support by day 11. LOS incidence declined in 67 % of centers, and half met their targets, with an overall 18.5 % reduction.</div></div><div><h3>Conclusions</h3><div>The project reduced LOS in most centers, although some clinical practices still need improvement. It demonstrates a reproducible, low-cost strategy with the potential to guide other neonatal units facing high sepsis incidence.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 6","pages":"Article 101459"},"PeriodicalIF":2.5,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Jornal de pediatria
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