Anales de pediatria最新文献

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Lower limb muscle herniation in an adolescent. 青少年下肢肌肉突出症。

Anales de pediatria

Pub Date : 2026-01-30 DOI: 10.1016/j.anpede.2026.504062

Lidia Jiménez García, Javier Vicente Hernández, Jorge Andrés López-Torrijos Florez, Gabriela Valentina Cattabriga León

引用次数: 0

Miliaria crystallina after severe neonatal hypernatremic dehydration. 新生儿严重高钠血症性脱水后结晶粟疹。

Anales de pediatria

Pub Date : 2026-01-09 DOI: 10.1016/j.anpede.2025.504080

Lorea Vicente Elcano, Laura Valladares Salado, Ana María Sánchez Torres, Carlos Zozaya Nieto

引用次数: 0

Uncovering ischemic stroke: The heart as key. 揭示缺血性中风：心脏是关键。

Anales de pediatria

Pub Date : 2026-01-09 DOI: 10.1016/j.anpede.2025.504081

Joana Afonso Neto, Catarina Almeida, Joana Lima, Raquel Sousa

引用次数: 0

Reply to “terminology and respect in addressing vaccine hesitancy” 答复“解决疫苗犹豫的术语和尊重”。

Anales de pediatria

Pub Date : 2026-01-01 DOI: 10.1016/j.anpede.2025.504076

Roi Piñeiro-Pérez

引用次数: 0

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

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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。

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