Anales de pediatria最新文献

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Hip pain and claudication… An unexpected diagnosis! 髋关节疼痛和跛行…一个意想不到的诊断！

Anales de pediatria

Pub Date : 2025-12-30 DOI: 10.1016/j.anpede.2025.504107

Sara Silva Rodrigues, Alexandra M Lopes Santos, Patrícia Terroso, Sónia Carvalho

引用次数: 0

One artery, two circulations: diagnostic challenges of anomalous origin of unilateral pulmonary artery from the ascending aorta in neonates. 一条动脉，两条循环：新生儿升主动脉单侧肺动脉异常起源的诊断挑战。

Anales de pediatria

Pub Date : 2025-12-30 DOI: 10.1016/j.anpede.2025.504109

Laia Brunet-Garcia, Flavio Zuccarino, Juan Manuel Carretero Bellon

引用次数: 0

Assessment and Management of Cholestasis: Consensus Document of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP), the Spanish Association of Primary Care Pediatrics (AEPap) and the Spanish Society of Primary Care Pediatrics (SEPEAP) 胆汁淤积的评估和管理：西班牙儿科胃肠病学、肝病学和营养学学会（SEGHNP）、西班牙初级保健儿科协会（AEPap）和西班牙初级保健儿科学会（SEPEAP）的共识文件。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504034

Maria Mercadal-Hally , Inés Loverdos , Joaquín Reyes-Andrade , Samuel Héctor Campuzano Martín , Ana Moreno Álvare , Ana María Vegasa-Álvarez , Ana Pilar Galera Peinado

Cholestasis is indicative of hepatobiliary dysfunction and is always pathological. Early detection helps improve the prognosis of some of the underlying diseases that cause it. The most common liver disease that causes cholestasis in the first months of life is biliary atresia, followed by monogenic diseases. The objective of this document is to provide consensus-based recommendations for the adequate management of cholestasis based on the review of the current evidence. A working group was created for the purpose, with participation of members of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition, the Spanish Association of Primary Care Pediatrics and the Spanish Society of Primary Care Pediatrics. The group established 26 recommendations to guide management in everyday clinical practice in both primary care and hospital settings.

胆汁淤积是肝胆功能障碍的表现，通常是病理性的。早期发现有助于改善一些潜在疾病的预后。在出生头几个月引起胆汁淤积的最常见的肝脏疾病是胆道闭锁，其次是单基因疾病。本文件的目的是在回顾现有证据的基础上，为充分管理胆汁淤积症提供基于共识的建议。为此目的设立了一个工作组，由西班牙儿科胃肠病学、肝病学和营养学学会、西班牙初级保健儿科协会和西班牙初级保健儿科学会的成员参加。该小组提出了26项建议，以指导初级保健和医院环境中日常临床实践中的管理。

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引用次数: 0

The importance of endocrine disruptors: an environmental prevention approach 内分泌干扰物的重要性：一种环境预防方法。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504027

Paula Sol Ventura Wichner , Ana María Prado Carro , en representación del Grupo de Trabajo de Disruptores Endocrinos de la Sociedad Española de Endocrinología Pediátrica (SEEP)

引用次数: 0

Taking a closer look at the early onset of childhood obesity risk 让我们仔细看看儿童肥胖的早期发病风险。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504037

Empar Lurbe , Julio Álvarez-Pitti , José Manuel Sastre , Francisco Aguilar

Epidemiological studies and studies in animal models have demonstrated the importance of the early stages of life and their relationship with health and disease in adulthood. Intervening in the risk of adult diseases by acting early in life is possible due to the great plasticity of this period, when timely actions can have a great impact. These would be aimed at reducing risk factors which would help to break the intergenerational vicious circles of maternal and childhood obesity, diabetes and related cardiometabolic health consequences, with a potential impact on the next generation.

Obesity in children and adolescents is a global health problem whose prevalence is increasing. When it comes to the risk of developing childhood obesity, the periods from conception and pregnancy through the end of the first 2 years of life are particularly relevant. Despite the special relevance of this stage, it has not always received the attention it deserves, and the approach at this time not free of difficulties.

Due to their importance, each of these stages requires specific approaches. Education on the concept of the relevance of healthy lifestyles during this period should be delivered not only to health care personnel but also to the general population.

流行病学研究和动物模型研究表明，生命早期阶段及其与成年期健康和疾病的关系十分重要。通过在生命早期采取行动来干预成人疾病的风险是可能的，因为这一时期具有很大的可塑性，及时的行动可以产生很大的影响。这些措施的目的是减少危险因素，从而有助于打破产妇和儿童肥胖、糖尿病和相关的心脏代谢健康后果的代际恶性循环，并可能对下一代产生影响。儿童和青少年肥胖是一个全球性的健康问题，其患病率正在上升。当谈到患儿童肥胖的风险时，从受孕和怀孕到生命结束前两年的这段时间尤为相关。尽管这一阶段具有特殊的意义，但它并不总是得到应有的重视，目前的做法并非没有困难。由于它们的重要性，每个阶段都需要特定的方法。在此期间，不仅应向保健人员，而且应向一般民众进行健康生活方式相关概念的教育。

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引用次数: 0

Off-label drugs in primary care in a health area 在卫生领域的初级保健中使用的标签外药物。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504032

David Lozano-Díaz , Silvia Malagón Ruiz

引用次数: 0

Response to comments on our article ‘Evidence-based medicine: 5 steps to navigate uncertainty’ 对我们文章“循证医学：导航不确定性的5个步骤”的评论的回应。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504036

Rafael Martín-Masot , Carlos Ochoa Sangrador , Jaime Javier Cuervo Valdés , Carolina Blanco Rodríguez , Paz González Rodríguez , Javier González de Dios , en representación del Comité de Trabajo de Pediatría Basada en la Evidencia

引用次数: 0

When can the Cow’s Milk-related Symptom Score (CoMiSS) be a useful tool for Spanish pediatricians? 牛奶相关症状评分（CoMiSS）何时能成为西班牙儿科医生的有用工具？

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504056

Rafael Martín-Masot , Juan J. Díaz-Martín , Alicia Santamaria-Orleans , Víctor Manuel Navas-López

Introduction

The Cow’s Milk-related Symptom Score (CoMiSS) is a practical tool to assess for cow’s milk protein allergy (CMPA) in infants based on clinical manifestations, although the diagnosis of CMPA should be confirmed subsequently by a specialist in pediatrics and/or pediatric gastroenterology and nutrition. The aim of this study was to compare CoMiSS results in infants diagnosed with IgE-mediated and non-IgE-mediated CMPA.

Material and methods

Multicenter, cross-sectional survey study with participation of pediatricians throughout Spain. Pediatricians were directed to apply the CoMiSS to infants at the time of diagnosis of CMPA and 7 days after initiating nutritional management with an extensively hydrolyzed formula (EHF). We interpreted a CoMiSS score of 12 or greater as positive.

Results

A total of 294 pediatricians (mean age, 51 years) participated in the study. The analysis included CoMiSS results for 1176 infants with CMPA (mean [SD] age, 6.4 [4.9] months), of who 66.8% (n = 745) had non-IgE-mediated CMPA. We found a greater decrease in the mean score in the IgE-mediated group compared to the non-IgE-mediated group (mean [SD], −9.06 [5.74] vs −6.00 [4.05]; P < .0001). When it came to individual symptoms, there were significantly greater reductions in the mean scores for crying and regurgitation in the non-IgE-mediated group, and, conversely, significantly greater reductions in the scores for atopic eczema in the head and arms, urticaria and respiratory symptoms in the IgE-mediated group. There was also a greater decrease in the total CoMiSS score in infants with very severe CMPA compared to infants with severe, moderate and mild CMPA.

Conclusion

This survey showed that only one third of infants diagnosed with CMPA had a positive CoMiSS result of 12 points or greater at the time of diagnosis, which suggests an inadequate use of the CoMiSS. We recommend the implementation of strategies to increase knowledge of the utility of the CoMiSS for the assessment of CMPA.

简介：牛奶相关症状评分（CoMiSS）是一种基于临床表现评估婴儿牛奶蛋白过敏（CMPA）的实用工具，尽管CMPA的诊断应随后由儿科和/或儿科胃肠病学和营养学专家确认。本研究的目的是比较CoMiSS在诊断为ige介导和非ige介导的CMPA的婴儿中的结果。材料和方法：多中心，横断面调查研究与全西班牙儿科医生的参与。指导儿科医生在诊断为CMPA时和开始用广泛水解配方奶粉（EHF）进行营养管理7天后对婴儿应用CoMiSS。我们认为CoMiSS得分为12或更高为正。结果：共有294名儿科医生（平均年龄51岁）参与了研究。分析纳入了1176例CMPA患儿（平均[SD]年龄6.4[4.9]个月）的CoMiSS结果，其中66.8% （n = 745）为非ige介导的CMPA。我们发现，与非ige介导组相比，ige介导组的平均评分下降幅度更大(平均[SD]， -9.06 [5.74] vs -6.00 [4.05]； P结论：本调查显示，诊断为CMPA的婴儿中，只有三分之一在诊断时CoMiSS结果为12分或更高，这表明CoMiSS使用不充分。我们建议实施战略，以增加对CoMiSS评估CMPA效用的认识。

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引用次数: 0

Bioinformatics and omics data management in genetic diagnosis 遗传诊断中的生物信息学和组学数据管理。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504013

Angela del Pozo

Next Generation Sequencing (NGS) encompasses a range of technologies that have transformed genomic research since the 2000s. By allowing the sequencing of large DNA fragments at a significantly lower cost than Sanger sequencing, NGS has become an indispensable tool in molecular laboratories, particularly in the field of molecular genetics. Its high efficiency and speed make it a first-line technique in genetic analysis.

A crucial step in achieving a diagnosis is bioinformatics analysis. Short-read sequencing technology generates raw data that must be processed to extract meaningful and interpretable information. This process enables the identification of causal links between genetic findings and phenotypic traits. Clinical bioinformatics specialists carry out this analysis using specialized tools and pipelines, which take into account the specific characteristics of the sequencing platforms, protocols and the particular diseases under study.

The quality review is an essential complement to the pipeline analysis. Its primary objective is to assess which samples are suitable for diagnosis and, in cases where results are negative, to identify the reasons, whether they are related to the incidence or other factors. Additionally, the quality review offers insight into the overall effectiveness of the experimental procedures.

Despite its many advantages, NGS still faces several challenges, including the need for more efficient technologies, enhanced regulatory frameworks and improved training of medical staff.

下一代测序（NGS）涵盖了自2000年代以来改变基因组研究的一系列技术。由于能够以比Sanger测序低得多的成本对大片段DNA进行测序，NGS已成为分子实验室，特别是分子遗传学领域不可或缺的工具。其高效、快速的特点使其成为遗传分析的一线技术。实现诊断的关键一步是生物信息学分析。短读测序技术产生的原始数据必须经过处理，以提取有意义和可解释的信息。这个过程可以确定遗传发现和表型性状之间的因果关系。临床生物信息学专家使用专门的工具和管道进行这种分析，这些工具和管道考虑到测序平台、协议和所研究的特定疾病的具体特征。质量评审是对管道分析的重要补充。其主要目标是评估哪些样本适合诊断，在结果为阴性的情况下，确定原因，是否与发病率或其他因素有关。此外，质量审查提供了洞察实验程序的整体有效性。尽管有许多优点，但新系统仍然面临一些挑战，包括需要更有效的技术、加强监管框架和改进对医务人员的培训。

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引用次数: 0

Deciding whether we read or believe 决定我们是读还是信。

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpede.2025.504029

Margarita Lalinde Fernández, M. Natividad Montalvo Serrano

引用次数: 0

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