Anales de pediatria最新文献

英文中文

Pediatric radiology: Current perspectives and future directions 儿童放射学：当前观点和未来方向。

Anales de pediatria

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

Élida Vázquez Méndez

引用次数: 0

Update on pharmacogenetics in pediatrics 儿科药物遗传学最新进展。

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.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 (SmPC) 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、国家产品特征摘要（SmPC）生物标志物数据库的更新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共同组合中包含的检测、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，提取并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

Ovarian hyperstimulation syndrome in a premature newborn 早产儿卵巢过度刺激综合征1例。

Anales de pediatria

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

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

引用次数: 0

Non-HLA risk variants in a type 1 diabetes pediatric population: Clinical and autoimmune profiles 1型糖尿病儿童人群中的非hla风险变异：临床和自身免疫特征

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.2025.504063

Miriam Díez Blanco , Clara Pérez Barrios , María Encarnación Donoso Navarro , Nuria Santiesteban Rodríguez , Itziar Martínez-Badás , Esmeralda Colino Alcol , Purificación Ros Pérez

Introduction

The interplay between genetic and environmental factors plays a critical role in the development of type 1 diabetes (T1D). While variants in non-HLA coding regions have been identified as potential therapeutic targets, their exact contribution to the pathophysiology of disease remains unclear. The aim of the study was to characterize six non-HLA variants in pediatric patients with T1D and explore their potential association with clinical parameters and other autoimmune diseases, such as thyroiditis and celiac disease (CD).

Methods

We analyzed six variants (c.1858 T > C, c.49A > G, c.919A > G, c.784 T > C, c.461 G > A, and c.-17-6 T, located in the PTPN22, CTLA4, CD226, SH2B3, FUT2 and INS genes) in a pediatric sample (age ≤ 18 years) with T1D, comparing it with a CD group and a control group. The variants were genotyped using quantitative PCR with TaqMan probes.

Results

We observed that variants in PTPN22, CD226 and INS were overrepresented in patients with T1D compared to the control and CD groups. There was a significant association between the presence of anti-glutamate decarboxylase autoantibodies (GADA) and the CTLA4 variant (P = .005), as well as between insulinoma-associated anti-tyrosine phosphatase autoantibodies (IA2A) and the PTPN22 variant (P < .03).The number of positive pancreatic autoantibodies was associated with the FUT2 variant (P = .02). Additionally, age at onset was associated with CTLA4 (P = .01) and SH2B3 (P < .05) variants.

Conclusion

The analyzed variants in the PTPN22, CD226, and INS genes were overrepresented in pediatric patients with T1D, suggesting potential therapeutic targets for modulating the autoimmune process. Their associations with specific clinical and autoimmune profiles can be applied in the identification of high-risk patients and help optimize their follow-up.

遗传和环境因素的相互作用在1型糖尿病（T1D）的发展中起着至关重要的作用。虽然非hla编码区域的变异已被确定为潜在的治疗靶点，但它们对疾病病理生理的确切贡献仍不清楚。该研究的目的是表征儿科T1D患者的6种非hla变异，并探讨其与临床参数和其他自身免疫性疾病（如甲状腺炎和乳糜泻（CD））的潜在关联。方法：分析1例儿童（年龄≤18岁）T1D患者PTPN22、CTLA4、CD226、SH2B3、FUT2和INS基因中的6个变异（C . 1858t >C、C . 49a >G、C . 919a >G、C . 784t b> C、C . 461g >A和C . 17- 6t），并与CD组和对照组进行比较。采用TaqMan探针进行定量PCR分型。结果：我们观察到，与对照组和CD组相比，PTPN22、CD226和INS的变异在T1D患者中被过度代表。抗谷氨酸脱羧酶自身抗体（GADA）与CTLA4变异之间存在显著相关性（P = 0.005），胰岛素瘤相关抗酪氨酸磷酸酶自身抗体（IA2A）与PTPN22变异之间存在显著相关性（P < 0.05）。胰腺自身抗体阳性数与FUT2变异相关（P = 0.02）。此外，发病年龄与CTLA4 （P = 0.01）和SH2B3 （P < 0.05）变异相关。结论：所分析的PTPN22、CD226和INS基因变异在儿童T1D患者中被过度代表，提示调节自身免疫过程的潜在治疗靶点。它们与特定临床和自身免疫特征的关联可用于识别高危患者，并有助于优化随访。

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引用次数: 0

Thunderstorm asthma 雷暴哮喘。

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.2025.504053

Beatriz Salamanca-Zarzuela, Lara Arnelas Gil, Paula Parro Olmo, Eva Vicente Navarro, Alba Hernández Prieto

引用次数: 0

Advanced therapies in pediatric genetic diseases 儿科遗传疾病的先进疗法。

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.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。

引用次数: 0

Neonatal seizures and skin lesions: What to consider? 新生儿癫痫和皮肤病变：该考虑什么？

Anales de pediatria

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

Alba Molina Ureba, Leonor Bardallo Cruzado, Jessica Gómez Ávila

引用次数: 0

Study of alterations in P300 evoked potentials in patients with attention-deficit/hyperactivity disorder 注意缺陷/多动障碍患者P300诱发电位改变的研究

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.2025.504052

Emilio González García , Andrea Arciniegas Villanueva , María José Ortiz Muñoz , Jeimmy Pinzón Martínez , Ana Guinovart Julian , Laura Cuesta Herráiz , María Victoria Ordoño Saiz

Introduction

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent developmental problems in school age. Its diagnosis is clinical, through an adequate exploration of symptoms, psychological and performance assessments and the use of specific questionnaires and scales. P300 wave cognitive evoked potentials provide an objective measure that serves as an indicator of the cognitive processes of attention, which is therefore considered an important aid to the diagnosis of these patients.

Patients and method

We studied the P300 wave results obtained through auditory stimuli in 26 pediatric patients: 13 with a recent clinical diagnosis of ADHD and naïve to pharmacological treatment and 13 healthy controls. We measured both the latency and amplitude of the P300 wave, comparing the values in each group, as well as the percentage of errors in the identification of the stimulus in each subject.

Results

We obtained reproducible responses in all study participants, with a mean (SD) latency of 354.25 (41) ms and a mean (SD) amplitude of 11.98 (5.6) µV in the ADHD group compared to 313.59 (21) ms and 13.24 (5.9) µV, respectively, in the control group. There was a higher percentage of errors in the ADHD group. We only found significant differences between groups in the latency of the P300 wave.

Conclusion

Pediatric patients with ADHD exhibited responses with a higher mean latency compared to peers without the disorder, so the assessment of P300 component cognitive evoked potentials could be used as an objective measure to support the diagnosis of ADHD.

注意缺陷/多动障碍（ADHD）是学龄期最普遍的发育问题之一。它的诊断是临床的，通过对症状的充分探索，心理和表现评估以及使用特定的问卷和量表。P300波认知诱发电位提供了一种客观的测量方法，可以作为注意力认知过程的指标，因此被认为是诊断这些患者的重要辅助手段。患者和方法：我们研究了26名儿童患者通过听觉刺激获得的P300波结果：13名最近临床诊断为ADHD并进行药物治疗naïve的儿童患者和13名健康对照。我们测量了P300波的潜伏期和振幅，比较了各组的值，以及每个受试者识别刺激的错误率。结果：我们在所有研究参与者中获得了可重复的反应，ADHD组的平均（SD）潜伏期为354.25（41） ms，平均（SD）振幅为11.98（5.6） µV，而对照组的平均（SD）振幅分别为313.59（21） ms和13.24（5.9） µV。ADHD组的错误率更高。我们只发现各组之间P300波的潜伏期有显著差异。结论：儿童ADHD患者的反应平均潜伏期高于正常儿童，P300成分认知诱发电位的评估可作为支持ADHD诊断的客观指标。

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引用次数: 0

Characteristics of non-pharmacological non-commercial pediatric Spanish clinical trials completed in 2009–2024 2009-2024年完成的西班牙非药物非商业儿科临床试验的特点

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.2025.504085

Rafael Dal-Ré , Elena García-Méndez , Ignacio Mahillo-Fernández

引用次数: 0

Sleep disorders in children managed in the pediatric palliative care unit of a tertiary hospital 在一家三级医院的儿科姑息治疗部门管理儿童睡眠障碍。

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.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。材料和方法：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：本研究纳入23例患者，其中86.95%患有神经系统疾病。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，从而改善患者及其家属的生活质量。

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