Anales de pediatria最新文献

英文中文

Trastornos del sueño en niños atendidos en una unidad de cuidados paliativos pediátricos de un hospital terciario 在三级医院儿科姑息治疗病房接受治疗的儿童睡眠障碍

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.504084

Lucía Monfort Belenguer , Andrés Piolatti Luna , María Isabel Lázaro Carreño , Teresa Cantavella Pons , Cristina Villar Vera

Introduction

In pediatric palliative care, 30% of patients suffer from cancer and the remaining 70% suffer mainly from neurologic, metabolic and genetic disorders. Sleep disorders affect 30% of healthy preschool children and up to 80% of neurologic patients, so these problems are likely to be common in PPC units. Addressing sleep quality is essential, as adequate rest improves the emotional and physical health of both children and their caregivers, thereby increasing their quality of life.

Objective

To determine the prevalence and specific characteristics of sleep problems in patients managed by the PPC unit of a tertiary care hospital between March and August 2024.

Material and methods

Quantitative, observational, and prospective study of patients receiving PPC at a tertiary care hospital. Sleep was assessed with instruments validated in the Spanish pediatric population (BISQ, SDSC and sleep diary).

Results

The study included 23 patients, of who 86.95% had neurologic disease. The most common sleep disorders were chronic insomnia and circadian rhythm disorders, with an overall prevalence of 78.26%. Low ferritin levels and the need for respiratory support during sleep were associated with worse scores on the sleep scale (SDSC).

Conclusions

Sleep disorders are highly prevalent in PPC, but validated scales and studies in large PPC samples are needed to improve their diagnosis and treatment and, consequently, the quality of life of patients and their families.

在儿童姑息治疗中，30%的患者患有癌症，其余70%的患者主要患有神经、代谢和遗传疾病。睡眠障碍影响30%的健康学龄前儿童和高达80%的神经系统患者，因此这些问题可能在PPC单位很常见。解决睡眠质量问题至关重要，因为充足的休息可以改善儿童及其照顾者的情绪和身体健康，从而提高他们的生活质量。目的了解某三级医院PPC科室2024年3月至8月住院患者睡眠问题的患病率及特点。材料与方法对三级医院接受PPC的患者进行定量、观察性和前瞻性研究。使用西班牙儿科人群（BISQ， SDSC和睡眠日记）验证的工具评估睡眠。结果共纳入23例患者，其中86.95%为神经系统疾病。最常见的睡眠障碍是慢性失眠和昼夜节律障碍，总患病率为78.26%。低铁蛋白水平和睡眠时需要呼吸支持与睡眠量表（SDSC）得分较差有关。结论睡眠障碍在PPC中非常普遍，但需要在大PPC样本中进行有效的量表和研究，以改善其诊断和治疗，从而提高患者及其家属的生活质量。

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引用次数: 0

Crisis neonatales y lesiones cutáneas: ¿qué pensar? 新生儿危机和皮肤损伤：我们该怎么想？

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.504059

Alba Molina Ureba, Leonor Bardallo Cruzado, Jessica Gómez Ávila

引用次数: 0

Radiología pediátrica: perspectivas actuales y direcciones futuras 儿科放射学：当前的前景和未来的方向

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.504110

Élida Vázquez Méndez

引用次数: 0

Terapias avanzadas en enfermedades genéticas pediátricas 儿童遗传疾病的先进疗法

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.503995

Eduardo F. Tizzano

Advances in the diagnosis of rare genetic diseases and growing knowledge of the genes that cause them have allowed the exponential development of advanced therapies. Today, there is a therapeutic armamentarium that, while limited, was unthinkable years ago and is constantly evolving. Given the complexity of their mechanisms of action, the feasibility of clinical trials and the authorization by regulatory agencies, advanced therapies need to be investigated for the management and follow-up of pediatric patients. Ongoing pharmacovigilance of these therapies is also necessary to evaluate patient responses and outcomes. At this stage, novel phenotypes of disease emerge that had never been treated before. Prognostic factors and specific indications are also established, underscoring the importance of assessing each patient based on their particular characteristics, in adherence to the principles of the personalized medicine approach. The aim of this article is to provide a comprehensive summary of concepts and strategies as an introduction to the topic of advanced therapies for genetic diseases, taking into account their broad scope and their ongoing evolution and advancement.

罕见遗传疾病诊断的进步和对导致这些疾病的基因的日益了解，使先进的治疗方法得到了指数级的发展。今天，有一种治疗手段，虽然有限，但在几年前是不可想象的，并且正在不断发展。鉴于其作用机制的复杂性、临床试验的可行性和监管机构的批准，需要研究先进的治疗方法来管理和随访儿科患者。对这些疗法进行持续的药物警戒对于评估患者的反应和结果也是必要的。在这个阶段，出现了以前从未治疗过的疾病的新表型。还确定了预后因素和具体适应症，强调了根据患者的特点评估每位患者的重要性，并遵循个性化医疗方法的原则。本文的目的是提供一个全面的概念和策略的概述，作为介绍遗传疾病的先进疗法的主题，考虑到它们的广泛范围和不断发展和进步。

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引用次数: 0

Calendario de vacunaciones e inmunizaciones de la Asociación Española de Pediatría: recomendaciones 2026 西班牙儿科协会疫苗接种和免疫日历：建议2026

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.504051

Francisco José Álvarez García , Antonio Iofrío de Arce , Javier Álvarez Aldeán , Elisa Garrote Llanos , Lucía López Granados , María Luisa Navarro Gómez , Valentín Pineda Solas , Irene Rivero Calle , Jesús Ruiz-Contreras , Ignacio Salamanca de la Cueva , Pepe Serrano Marchuet , en representación del Comité Asesor de Vacunas e Inmunizaciones de la Asociación Española de Pediatría (CAV-AEP)

The 2026 Vaccination and Immunization Schedule recommended by the Spanish Association of Pediatrics (AEP) for children, adolescents and pregnant women residing in Spain includes the following new features: introduction of routine vaccination against hepatitis A with a single-dose schedule at 12 to 15 months; universal vaccination against influenza in children from 6 months and adolescents up to 17 years of age; catch-up vaccination and re-engagement campaigns added to the routine immunization schedule and a new table featuring the vaccinations recommended for specific chronic diseases or risk conditions.

The following recommendations from the 2025 schedule, among others, are maintained: immunization with nirsevimab in infants younger than 6 months, or up to 12 months in the case of preterm infants born before 35 weeks of gestation and up to 24 months in children with risk factors; routine vaccination against meningococcal disease (MenB in infancy [starting at 2 months] and at 12 years, plus booster doses for those vaccinated in childhood with 4 CMenB; MenACWY at 4 months, 12 months and 12 years); advancing the second doses of MMR and varicella vaccines to 24 months and the Tdap at 10 to 12 years; and vaccination against SARS-CoV-2 for children older than 6 months with risk factors. During pregnancy, vaccination with Tdap and against influenza and COVID-19 is indicated. Vaccination against RSV in pregnant women is available, although not funded, as it is not currently approved as a public health strategy.

西班牙儿科协会（AEP）为居住在西班牙的儿童、青少年和孕妇推荐的2026年疫苗接种和免疫计划包括以下新特点：在12至15个月时采用单剂量常规接种甲型肝炎疫苗；在6个月大的儿童和17岁以下的青少年中普遍接种流感疫苗；在常规免疫计划中增加了补充疫苗接种和重新参与运动，并新增了针对特定慢性疾病或危险状况推荐的疫苗接种表。除其他外，2025年时间表中的以下建议得到维持：在6个月以下的婴儿中接种尼塞维单抗，在妊娠35周前出生的早产儿中接种最多12个月，在有危险因素的儿童中接种最多24个月；常规接种脑膜炎球菌病疫苗（在婴儿期（从2个月开始）和12岁时接种b型脑膜炎球菌病疫苗，在儿童期接种4型b型脑膜炎球菌病疫苗，在4个月、12个月和12岁接种b型脑膜炎球菌病疫苗）；将第二剂MMR和水痘疫苗的接种时间提前至24个月，将百白破疫苗的接种时间提前至10至12岁；为有危险因素的6个月以上儿童接种SARS-CoV-2疫苗。在怀孕期间，建议接种百白破疫苗，预防流感和COVID-19。针对孕妇的呼吸道合胞病毒疫苗接种是可用的，尽管没有资助，因为它目前没有被批准为一项公共卫生战略。

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引用次数: 0

Síndrome de hiperestimulación ovárica en recién nacida prematura 早产儿卵巢过度刺激综合征

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.504050

Fátima Pareja Marín, Carla Miró Vicedo, Alba Aviñó Llácer, Sara Beltrán García

引用次数: 0

Actualización de farmacogenética en pediatría 儿科药物遗传学更新

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpedi.2025.503936

Irene Taladriz-Sender, Sara Salvador-Martín, Paula Zapata-Cobo, Luis Andrés López-Fernández, María Sanjurjo-Sáez, Xandra García-González

The implementation of pharmacogenetics in Spain has experienced a significant boost in the last year, driven by the update of the genetic services portfolio of the National Health System, the national summary of product characteristics biomarker database and the development and update of clinical guidelines by scientific societies and expert groups. However, the scope of this implementation is quite limited in the pediatric population because most studies do not include children, which in turn means that, in many cases, guidelines do not specify what to do in this population. This article reviews the tests included in the common portfolio of genetic services, drugs with pharmacogenetic recommendations in technical data sheets, and the main global and national pharmacogenetic guidelines, extracting and analyzing the existing information for the pediatric population. Drug-gene pairs with greater use in pediatrics are presented in more detail, such as proton pump inhibitors and CYP2C19, abacavir, allopurinol, carbamazepine, oxcarbazepine, and phenytoin with HLA-A and HLA-B genes, voriconazole and CYP2C19, tacrolimus and CYP3A5, aminoglycosides and MT-RNR1, thiopurines and TMPT/NUDT15, or atomoxetine and CYP2D6. Despite current limitations, the use of pharmacogenetics in pediatrics can and should be implemented in those cases where regulatory agencies and/or scientific societies recommend it.

由于国家卫生系统遗传服务组合的更新、国家产品特征生物标志物数据库摘要以及科学学会和专家组制定和更新临床指南，西班牙的药物遗传学实施在去年得到了显著推动。然而，这种实施的范围在儿科人群中是相当有限的，因为大多数研究不包括儿童，这反过来意味着，在许多情况下，指导方针没有指定在这一人群中做什么。本文回顾了遗传服务的共同组合中包括的测试，技术数据表中药物遗传学建议的药物，以及主要的全球和国家药物遗传学指南，提取和分析了儿科人群的现有信息。更详细地介绍了在儿科中使用较多的药物基因对，如质子泵抑制剂和CYP2C19，阿巴卡韦、别嘌呤醇、卡马西平、奥卡西平和苯妥英具有HLA-A和HLA-B基因，伏立康唑和CYP2C19，他克莫司和CYP3A5，氨基糖苷类药物和MT-RNR1，硫嘌呤和TMPT/NUDT15，或托莫西汀和CYP2D6。尽管目前存在局限性，但在监管机构和/或科学协会推荐的情况下，儿科药物遗传学的使用可以而且应该得到实施。

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引用次数: 0

Decidir si leemos o creemos 决定我们是阅读还是相信

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

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

Margarita Lalinde Fernández, M. Natividad Montalvo Serrano

引用次数: 0

Asesoramiento genético en pediatría: implicaciones clínicas y desafíos en la medicina genómica 儿科遗传咨询：基因组医学的临床影响和挑战

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpedi.2025.503929

Diana Salinas Chaparro , Patricia Muñoz Cabello , Gema Escribano Serrano , Maite Torres López , Eduardo F. Tizzano , Antonio F. Martinez-Monseny , Fernando Santos-Simarro

Genomic medicine has made significant progress, driven by genomic technologies and their integration into clinical practice. However, its implementation presents challenges, particularly in genetic counseling (GC) and the interpretation of genomic data. Genetic counseling is a nondirective communication process aimed at helping patients and families understand and adapt to the implications of a genetic diagnosis. In pediatric care, GC takes on particular importance, adapting to the needs of each child development stage. Challenges arise with genetic newborn screening and rapid tests in intensive care units during the neonatal period. In children, GC focuses on the communication with the young patient and their family, addressing complex ethical issues such as consent, predictive testing and incidental findings. In adolescents, new challenges arise in relation to autonomy and decision-making. Multidisciplinary care is essential, including yet undiagnosed cases still on the journey commonly referred to as the ‘diagnostic odyssey’. This article reviews the role of GC across the stages of paediatric care in the framework of the current evidence on genomics.

在基因组技术及其与临床实践结合的推动下，基因组医学取得了重大进展。然而，它的实施提出了挑战，特别是在遗传咨询（GC）和基因组数据的解释。遗传咨询是一种非指导性的沟通过程，旨在帮助患者和家属理解和适应遗传诊断的影响。在儿科护理中，GC特别重要，适应每个儿童发展阶段的需要。新生儿期重症监护病房的新生儿基因筛查和快速检测面临挑战。在儿童中，GC侧重于与年轻患者及其家属的沟通，解决复杂的伦理问题，如同意、预测性检测和偶然发现。在青少年中，在自主和决策方面出现了新的挑战。多学科护理是必不可少的，包括尚未确诊的病例，这些病例通常被称为“诊断奥德赛”。本文回顾了GC在当前基因组学证据框架下儿科护理阶段的作用。

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Reflexiones sobre los orígenes del riesgo de obesidad infantil 对儿童肥胖症危险来源的思考

IF 2.1 4区医学 Q2 PEDIATRICS

Anales de pediatria

Pub Date : 2025-12-01 DOI: 10.1016/j.anpedi.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 card iometabolic 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、糖尿病和相关的代谢性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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