Anales de pediatria最新文献

英文中文

In response to the article «Reluctance of parents to immunize their children with nirsevimab» 针对《父母不愿给孩子接种尼瑟维单抗》一文。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504015

David Andina Martínez , Esther Fernández Mozo , Rocio Trincado Lamuño , Jose Antonio Alonso-Cadenas , en nombre del Grupo de Trabajo sobre el Impacto de la profilaxis universal del Virus Respiratorio Sincitial en España

引用次数: 0

New genomic technologies and their application in pediatric care 新的基因组技术及其在儿科护理中的应用

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503899

Damià Heine Suñer, Víctor José Asensio, Laura Torres Juan

The development of genomic technologies has transformed pediatric practice, enabling significant advances in the diagnosis of genetic diseases, 70% of which manifest during childhood. Genomic variants, ranging from single-nucleotide changes to large chromosomal rearrangements, are responsible for many pediatric conditions, and their detection relies on the appropriate selection of technologies. Methods such as karyotyping, MLPA, microarrays, Sanger sequencing, and next-generation sequencing (NGS) have increased diagnostic capacity, although, on average, a definitive diagnosis is currently made in only 27% of pediatric cases. Gene panels and exome, genome, and RNA sequencing offer varying diagnostic yields depending on clinical complexity, with rates that may be as high as 75% in specific cohorts. Additionally, emerging technologies such as long-read sequencing and optical genome mapping have proven useful in identifying complex structural variants and repetitive genomic regions. The integration of comprehensive clinical phenotyping and tools like the Human Phenotype Ontology (HPO) standard vocabulary optimizes genetic variant prioritization and enhances diagnostic accuracy. This article reviews the capabilities, limitations and clinical applications of currently available genomic techniques, highlighting their differences, advantages and disadvantages as well as implications for diagnostics in pediatrics.

基因组技术的发展改变了儿科实践，使遗传病的诊断取得重大进展，其中70%在儿童时期出现。基因组变异，从单核苷酸变化到大的染色体重排，是许多儿科疾病的原因，它们的检测依赖于适当的技术选择。核型、MLPA、微阵列、Sanger测序和下一代测序（NGS）等方法提高了诊断能力，尽管目前平均只有27%的儿科病例能做出明确的诊断。基因面板和外显子组、基因组和RNA测序根据临床复杂性提供不同的诊断率，在特定队列中的诊断率可能高达75%。此外，长读测序和光学基因组图谱等新兴技术已被证明在识别复杂结构变异和重复基因组区域方面很有用。综合临床表型和人类表型本体（HPO）标准词汇等工具的集成优化了遗传变异的优先级，提高了诊断的准确性。本文综述了目前可用的基因组技术的能力、局限性和临床应用，强调了它们的差异、优点和缺点以及对儿科诊断的影响。

{"title":"New genomic technologies and their application in pediatric care","authors":"Damià Heine Suñer, Víctor José Asensio, Laura Torres Juan","doi":"10.1016/j.anpede.2025.503899","DOIUrl":"10.1016/j.anpede.2025.503899","url":null,"abstract":"<div><div>The development of genomic technologies has transformed pediatric practice, enabling significant advances in the diagnosis of genetic diseases, 70% of which manifest during childhood. Genomic variants, ranging from single-nucleotide changes to large chromosomal rearrangements, are responsible for many pediatric conditions, and their detection relies on the appropriate selection of technologies. Methods such as karyotyping, MLPA, microarrays, Sanger sequencing, and next-generation sequencing (NGS) have increased diagnostic capacity, although, on average, a definitive diagnosis is currently made in only 27% of pediatric cases. Gene panels and exome, genome, and RNA sequencing offer varying diagnostic yields depending on clinical complexity, with rates that may be as high as 75% in specific cohorts. Additionally, emerging technologies such as long-read sequencing and optical genome mapping have proven useful in identifying complex structural variants and repetitive genomic regions. The integration of comprehensive clinical phenotyping and tools like the Human Phenotype Ontology (HPO) standard vocabulary optimizes genetic variant prioritization and enhances diagnostic accuracy. This article reviews the capabilities, limitations and clinical applications of currently available genomic techniques, highlighting their differences, advantages and disadvantages as well as implications for diagnostics in pediatrics.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 503899"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nystagmus as a manifestation of epileptic seizures in a neonate with an SCN3A gene alteration 眼球震颤是SCN3A基因改变新生儿癫痫发作的一种表现。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504021

Ramy Álvaro Hamaui Akkad, Carolina Vizcaíno Díaz

引用次数: 0

Hypertrophic cardiomyopathy in Pompe disease following avalglucosidase alfa therapy 雪崩葡萄糖苷酶α治疗后庞贝病的肥厚性心肌病。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504014

Óscar Valer Monterde, Lidia Solanas Lázaro, Lorenzo Jiménez Montañés, Martín Bahón Fauro

引用次数: 0

Impact of systematic screening in Emergency departments for urinary tract infection in infants 3 to 6 months of age with fever without a source 急诊科系统筛查3 - 6个月大的无源发热婴儿尿路感染的影响

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503996

Marta Andreu-Martínez , Malena Pena-Lahoz , Diego De Juan-Vázquez , Patricia Rodríguez-Lorenzo , Santiago Mintegi

引用次数: 0

Ultrasound for monitoring intraosseous cannulation 超声监测骨内插管。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504025

Jesús López-Herce Cid

引用次数: 0

Cystic mandibular lesion in a thirteen-year-old male patient 13岁男性患者下颌骨囊性病变。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504022

Clara Azón Antón , Beatriz Izquierdo Hernández , Juan Hidalgo Sanz

引用次数: 0

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation 新生儿和儿科重症监护病房的快速基因组测序。证据和现状。

Anales de pediatria

Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503956

Marta Pacio Miguez , Sixto García-Miñaúr , Ángela del Pozo , Juan José Menéndez Suso , Francisco J. Climent Alcalá , María Sánchez Holgado , Patricia Álvarez García , Carmen Jiménez Rodríguez , Fernando Santos-Simarro , María Palomares-Bralo

Rapid genome sequencing has been found to be an effective tool for the diagnosis of genetic disorders in neonatal and pediatric intensive care settings, allowing rapid and accurate decision-making and access to personalized care and therapies. Most genetic disorders exhibit significant clinical and genetic heterogeneity, which complicates recognition of the disease and diagnosis by conventional methods. Rapid genome sequencing offers a superior diagnostic yield, improving patient management and reducing diagnostic delay and inpatient care costs. However, there are barriers to its implementation in everyday clinical practice, such as a lack of technological infrastructure and qualified professionals. This study, conducted in a Spanish center, demonstrated the viability of genomic medicine in real-world practice, with a diagnostic yield of 42% and a significant impact on the management of patients in 32.5% of cases.

快速基因组测序已被发现是诊断新生儿和儿科重症监护环境中遗传疾病的有效工具，可以快速准确地做出决策，并获得个性化的护理和治疗。大多数遗传性疾病表现出明显的临床和遗传异质性，这使得传统方法对疾病的识别和诊断复杂化。快速基因组测序提供了卓越的诊断产量，改善了患者管理，减少了诊断延误和住院治疗成本。然而，在日常临床实践中，它的实施存在障碍，例如缺乏技术基础设施和合格的专业人员。这项在西班牙中心进行的研究证明了基因组医学在现实世界实践中的可行性，诊断率为42%，对32.5%的病例的患者管理产生了重大影响。

{"title":"Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation","authors":"Marta Pacio Miguez , Sixto García-Miñaúr , Ángela del Pozo , Juan José Menéndez Suso , Francisco J. Climent Alcalá , María Sánchez Holgado , Patricia Álvarez García , Carmen Jiménez Rodríguez , Fernando Santos-Simarro , María Palomares-Bralo","doi":"10.1016/j.anpede.2025.503956","DOIUrl":"10.1016/j.anpede.2025.503956","url":null,"abstract":"<div><div>Rapid genome sequencing has been found to be an effective tool for the diagnosis of genetic disorders in neonatal and pediatric intensive care settings, allowing rapid and accurate decision-making and access to personalized care and therapies. Most genetic disorders exhibit significant clinical and genetic heterogeneity, which complicates recognition of the disease and diagnosis by conventional methods. Rapid genome sequencing offers a superior diagnostic yield, improving patient management and reducing diagnostic delay and inpatient care costs. However, there are barriers to its implementation in everyday clinical practice, such as a lack of technological infrastructure and qualified professionals. This study, conducted in a Spanish center, demonstrated the viability of genomic medicine in real-world practice, with a diagnostic yield of 42% and a significant impact on the management of patients in 32.5% of cases.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 503956"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145472608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Controversies in the selection of needle length for intraosseous vascular access cannulation 骨内血管插管针头长度选择的争议。

Anales de pediatria

Pub Date : 2025-10-01 DOI: 10.1016/j.anpede.2025.503968

Irati Goienetxe Muñoz, Frederic Samson

引用次数: 0

Seasonal influenza vaccination in childhood and adolescence. Consensus of the AEV, CAV-AEP and SEIP 儿童和青少年接种季节性流感疫苗。AEV、CAV-AEP和SEIP的共识。

Anales de pediatria

Pub Date : 2025-10-01 DOI: 10.1016/j.anpede.2025.503965

Javier Alvarez Aldeán , Francisco José Alvarez García , Marta Cruz Cañete , María Fernández Prada , Laura Francisco González , Ana María Grande Tejada , Antonio Iofrío de Arce , Alejandra Méndez Sánchez , Fernando Moraga Llop , Ignacio Salamanca de la Cueva , en representación del Comité Asesor de Vacunas de la Asociación Española, de Pediatría (CAV-AEP), Sociedad Española de Infectología Pediátrica (SEIP) y Asociación Española de Vacunología (AEV)

Influenza is an important public health problem that puts healthcare systems to the test each year with outbreaks that constitute a significant social and economic burden. The proportion of the pediatric population affected during the annual influenza season ranges between 30% and 40% worldwide, with 2–4 million severe cases in children under 18 years of age globally. Children and adolescents are also the main transmitters of the disease.

The consensus document presented here was developed jointly by three scientific societies: the Spanish Association of Vaccinology (AEV), the Spanish Association of Pediatrics, through its Advisory Committee on Vaccines and Immunizations (CAV-AEP), and the Spanish Society of Pediatric Infectious Diseases (SEIP). Routine influenza vaccination is recommended for children from 6 months of age and for adolescents up to 17 years of age (both included). Vaccination is also recommended for any individual that could transmit the virus to groups at increased risk of developing severe forms of disease and for household or close contacts of infants aged less than 6 months. Vaccination against influenza of all health care professionals as well as pregnant women (at any time during pregnancy) is especially important. For children aged 2 years or older and adolescents, unless contraindicated, vaccination with attenuated intranasal vaccine is preferred. Efforts should be made to improve influenza vaccination coverage in all the recommended groups, with particular emphasis on at-risk groups.

流感是一个重要的公共卫生问题，每年爆发的疫情对卫生保健系统构成重大的社会和经济负担。在每年的流感季节，全世界受影响的儿科人口比例在30%至40%之间，全球18岁以下儿童中有200万至400万严重病例。儿童和青少年也是这种疾病的主要传播者。这里提出的共识文件是由三个科学学会共同制定的：西班牙疫苗学协会（AEV）、西班牙儿科协会（通过其疫苗和免疫咨询委员会CAV-AEP）和西班牙儿科传染病学会（SEIP）。建议对6个月以下的儿童和17岁以下的青少年（两者都包括在内）进行常规流感疫苗接种。还建议对可能将病毒传播给发展为严重疾病的风险增加的群体的任何个人以及6个月以下婴儿的家庭接触者或密切接触者接种疫苗。所有卫生保健专业人员以及孕妇（在怀孕期间的任何时候）接种流感疫苗尤为重要。对于2岁或以上的儿童和青少年，除非有禁忌症，最好接种鼻内减毒疫苗。应努力提高所有推荐人群的流感疫苗接种覆盖率，特别强调高危人群。

{"title":"Seasonal influenza vaccination in childhood and adolescence. Consensus of the AEV, CAV-AEP and SEIP","authors":"Javier Alvarez Aldeán , Francisco José Alvarez García , Marta Cruz Cañete , María Fernández Prada , Laura Francisco González , Ana María Grande Tejada , Antonio Iofrío de Arce , Alejandra Méndez Sánchez , Fernando Moraga Llop , Ignacio Salamanca de la Cueva , en representación del Comité Asesor de Vacunas de la Asociación Española, de Pediatría (CAV-AEP), Sociedad Española de Infectología Pediátrica (SEIP) y Asociación Española de Vacunología (AEV)","doi":"10.1016/j.anpede.2025.503965","DOIUrl":"10.1016/j.anpede.2025.503965","url":null,"abstract":"<div><div>Influenza is an important public health problem that puts healthcare systems to the test each year with outbreaks that constitute a significant social and economic burden. The proportion of the pediatric population affected during the annual influenza season ranges between 30% and 40% worldwide, with 2–4 million severe cases in children under 18 years of age globally. Children and adolescents are also the main transmitters of the disease.</div><div>The consensus document presented here was developed jointly by three scientific societies: the Spanish Association of Vaccinology (AEV), the Spanish Association of Pediatrics, through its Advisory Committee on Vaccines and Immunizations (CAV-AEP), and the Spanish Society of Pediatric Infectious Diseases (SEIP). Routine influenza vaccination is recommended for children from 6 months of age and for adolescents up to 17 years of age (both included). Vaccination is also recommended for any individual that could transmit the virus to groups at increased risk of developing severe forms of disease and for household or close contacts of infants aged less than 6 months. Vaccination against influenza of all health care professionals as well as pregnant women (at any time during pregnancy) is especially important. For children aged 2 years or older and adolescents, unless contraindicated, vaccination with attenuated intranasal vaccine is preferred. Efforts should be made to improve influenza vaccination coverage in all the recommended groups, with particular emphasis on at-risk groups.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 4","pages":"Article 503965"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

首页上一页

下一页尾页

类型

全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

数据库

全部 ACS Publications Elsevier ieeexplore Springer The Royal Society of Chemistry Wiley

期刊

Anales de pediatria

全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.

﹀