首页 > 最新文献

Anales de pediatria最新文献

英文 中文
Adolescent with persistent pain in the right calf 青少年右小腿持续疼痛。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504020
Raquel Sánchez Jiménez , Alicia Utrera Ramos , Ibán Plaza Nieto , María del Mar Sánchez Gutiérrez
{"title":"Adolescent with persistent pain in the right calf","authors":"Raquel Sánchez Jiménez , Alicia Utrera Ramos , Ibán Plaza Nieto , María del Mar Sánchez Gutiérrez","doi":"10.1016/j.anpede.2025.504020","DOIUrl":"10.1016/j.anpede.2025.504020","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504020"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145433338","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
Executive summary. Screening, staging and follow-up of type 1 diabetes in preclinical stages: consensus of the scientific societies SED, SEEN and SEEP 执行概要。1型糖尿病临床前阶段的筛查、分期和随访:SED、SEEN和SEEP科学学会的共识
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503944
María Asunción Martínez-Brocca , Virginia Bellido , Roque Cardona-Hernandez , Luis Castaño , Ignacio Conget , Alberto Fernández , Ana Lucía Gómez Gila , Isabel Leiva-Gea , Dídac Mauricio
Type 1 diabetes (T1DM) is an autoimmune disease whose late diagnosis can lead to serious complications such as diabetic ketoacidosis, especially in children. The presence of specific autoantibodies allows for the identification of a presymptomatic phase, opening the door to screening strategies targeting populations at high genetic risk, such as first-degree relatives. This document presents the consensus recommendations of the Spanish Diabetes Society (SED), the Spanish Society of Endocrinology and Nutrition (SEEN) and the Spanish Society of Paediatric Endocrinology (SEEP) on the screening, staging and monitoring of T1DM in preclinical stages. Early identification of the disease will enable a personalised approach to be established, promote health education and, eventually, consider therapeutic interventions that may delay progression to the symptomatic phase. This consensus seeks to establish a common framework for clinical action based on the available evidence, with clear recommendations for its proper implementation.
1型糖尿病(T1DM)是一种自身免疫性疾病,其晚期诊断可导致严重的并发症,如糖尿病酮症酸中毒,特别是在儿童中。特异性自身抗体的存在允许识别症状前阶段,为针对高遗传风险人群(如一级亲属)的筛查策略打开大门。本文件提出了西班牙糖尿病学会(SED)、西班牙内分泌与营养学会(SEEN)和西班牙儿科内分泌学会(SEEP)关于T1DM临床前阶段筛查、分期和监测的共识建议。疾病的早期识别将能够建立个性化的方法,促进健康教育,并最终考虑可能延迟进展到症状阶段的治疗干预措施。这一共识旨在根据现有证据建立临床行动的共同框架,并就如何正确实施提出明确建议。
{"title":"Executive summary. Screening, staging and follow-up of type 1 diabetes in preclinical stages: consensus of the scientific societies SED, SEEN and SEEP","authors":"María Asunción Martínez-Brocca ,&nbsp;Virginia Bellido ,&nbsp;Roque Cardona-Hernandez ,&nbsp;Luis Castaño ,&nbsp;Ignacio Conget ,&nbsp;Alberto Fernández ,&nbsp;Ana Lucía Gómez Gila ,&nbsp;Isabel Leiva-Gea ,&nbsp;Dídac Mauricio","doi":"10.1016/j.anpede.2025.503944","DOIUrl":"10.1016/j.anpede.2025.503944","url":null,"abstract":"<div><div>Type 1 diabetes (T1DM) is an autoimmune disease whose late diagnosis can lead to serious complications such as diabetic ketoacidosis, especially in children. The presence of specific autoantibodies allows for the identification of a presymptomatic phase, opening the door to screening strategies targeting populations at high genetic risk, such as first-degree relatives. This document presents the consensus recommendations of the Spanish Diabetes Society (SED), the Spanish Society of Endocrinology and Nutrition (SEEN) and the Spanish Society of Paediatric Endocrinology (SEEP) on the screening, staging and monitoring of T1DM in preclinical stages. Early identification of the disease will enable a personalised approach to be established, promote health education and, eventually, consider therapeutic interventions that may delay progression to the symptomatic phase. This consensus seeks to establish a common framework for clinical action based on the available evidence, with clear recommendations for its proper implementation.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 503944"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537590","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
Beneath the bruise: The importance of clinical suspicion in pediatric inguinoscrotal trauma 瘀伤下:小儿腹股沟阴囊外伤临床怀疑的重要性。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504023
Viviana Paola Muñoz Cabrera , Javier Arredondo Montero
{"title":"Beneath the bruise: The importance of clinical suspicion in pediatric inguinoscrotal trauma","authors":"Viviana Paola Muñoz Cabrera ,&nbsp;Javier Arredondo Montero","doi":"10.1016/j.anpede.2025.504023","DOIUrl":"10.1016/j.anpede.2025.504023","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504023"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145282072","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
ContinuumAEP and the acquisition of competencies in Pediatrics 持续的aep和儿科能力的获得。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504024
Carlos Ochoa Sangrador , Carmen Villaizán Pérez , Alberto García-Salido , Pablo del Villar Guerra , Francisco Hijano Bandera , Javier González de Dios , Equipo Editorial de Continuum

Introduction

According to the Global Pediatric Education Consortium (GPEC), paediatricians need to acquire and maintain a set of competencies in their daily practice. Continuum, the online training platform of the Spanish Association of Pediatrics, has developed training activities to explore and achieve these competencies.

Methods

Cross-sectional study of the training activities delivered on Continuum over eleven years and the competencies assigned to each of them. The period 2013–2024 was analysed through a descriptive analysis of competency coverage.

Results

A total of 12 048 GPEC competencies were assigned to 1118 training activities, with an average of 10.8 competencies per activity. Of the 8509 competencies available in the Continuum competency matrix, 5718 were addressed at least once. This amounts to 67.2% of the total (95% confidence interval [CI], 66.2 %–68.2%). Each competency was assigned an average of 2.11 times (95% CI, 2.07–2.15). There was considerable heterogeneity in the coverage by area of competence. We ought to highlight the high coverage (>90%) for the areas of “Professionalism”, “Patient Safety and Quality Improvement”, “Musculoskeletal Disorders”, “Allergy”, “Dermatology” and “Nutrition” and the low coverage (<10%) for “Self-Leadership and Practice Management” and “Gynecology”.

Conclusions

In the period under study, the Continuum platform enabled the attainment of more than two-thirds of the competencies required for pediatric practice as established by the GPEC. We identified asymmetries between knowledge areas. These should be considered to prioritize access to underrepresented competencies.
导言:根据全球儿科教育联盟(GPEC),儿科医生需要在日常实践中获得并保持一套能力。西班牙儿科协会的在线培训平台Continuum开发了培训活动来探索和实现这些能力。方法:对连续11年的培训活动和分配给每个培训活动的能力进行横断面研究。通过能力覆盖的描述性分析,对2013-2024年进行了分析。结果:共有12048个GPEC能力被分配到1118个培训活动中,平均每个活动10.8个能力。在Continuum胜任力矩阵中可用的8509个胜任力中,5718个至少被处理过一次。这占总数的67.2%(95%置信区间[CI], 66.2% -68.2%)。每个能力平均分配2.11次(95% CI, 2.07-2.15)。按权限领域划分的覆盖范围存在相当大的异质性。我们应该强调“专业”、“患者安全和质量改进”、“肌肉骨骼疾病”、“过敏”、“皮肤病学”和“营养学”领域的高覆盖率(约90%)和低覆盖率(结论:在研究期间,Continuum平台实现了GPEC规定的儿科实践所需能力的三分之二以上)。我们发现了知识领域之间的不对称性。这些应被考虑优先考虑获得代表性不足的能力。
{"title":"ContinuumAEP and the acquisition of competencies in Pediatrics","authors":"Carlos Ochoa Sangrador ,&nbsp;Carmen Villaizán Pérez ,&nbsp;Alberto García-Salido ,&nbsp;Pablo del Villar Guerra ,&nbsp;Francisco Hijano Bandera ,&nbsp;Javier González de Dios ,&nbsp;Equipo Editorial de Continuum","doi":"10.1016/j.anpede.2025.504024","DOIUrl":"10.1016/j.anpede.2025.504024","url":null,"abstract":"<div><h3>Introduction</h3><div>According to the Global Pediatric Education Consortium (GPEC), paediatricians need to acquire and maintain a set of competencies in their daily practice. <em>Continuum</em>, the online training platform of the Spanish Association of Pediatrics, has developed training activities to explore and achieve these competencies.</div></div><div><h3>Methods</h3><div>Cross-sectional study of the training activities delivered on Continuum over eleven years and the competencies assigned to each of them. The period 2013–2024 was analysed through a descriptive analysis of competency coverage.</div></div><div><h3>Results</h3><div>A total of 12 048 GPEC competencies were assigned to 1118 training activities, with an average of 10.8 competencies per activity. Of the 8509 competencies available in the Continuum competency matrix, 5718 were addressed at least once. This amounts to 67.2% of the total (95% confidence interval [CI], 66.2 %–68.2%). Each competency was assigned an average of 2.11 times (95% CI, 2.07–2.15). There was considerable heterogeneity in the coverage by area of competence. We ought to highlight the high coverage (&gt;90%) for the areas of “Professionalism”, “Patient Safety and Quality Improvement”, “Musculoskeletal Disorders”, “Allergy”, “Dermatology” and “Nutrition” and the low coverage (&lt;10%) for “Self-Leadership and Practice Management” and “Gynecology”.</div></div><div><h3>Conclusions</h3><div>In the period under study, the <em>Continuum</em> platform enabled the attainment of more than two-thirds of the competencies required for pediatric practice as established by the GPEC. We identified asymmetries between knowledge areas. These should be considered to prioritize access to underrepresented competencies.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504024"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145454220","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
Compassion satisfaction, secondary traumatic stress and burnout: quality of working life in the field of pediatrics in Spain 同情满意度、二次创伤压力和倦怠:西班牙儿科工作生活质量。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504012
María José Peláez Cantero , Iñigo Noriega Echevarría , Juan Pablo García-Iñiguez , Felipe Verjano Sánchez , Ester Barrios Miras , Inés del Río Pastoriza , María Jesús Alijas Merillas , Francisco Moreno Madrid , Isolina Riaño Galán , José Antonio Salinas Sanz , en representación del Comité de Bioética de la Asociación Española de Pediatría

Objective

To determine the prevalence of compassion satisfaction (CS), secondary traumatic stress (STS) and job exhaustion or burnout (BO) in medical professionals specialized in pediatrics at the national level in Spain and determine which demographic and work-related factors affect their development.

Methods

We conducted a cross-sectional study in pediatricians by means of questionnaires sent by the Spanish Association of Pediatrics (AEP) to its members, which were completed online and anonymously. We collected data on demographic variables, professional category (medical intern/resident [MIR] in pediatrics or pediatrician), main care setting and type of employment, specific field within pediatrics, main field of work, duration of work experience in general and time in current position. Care settings were further categorized into three groups: out-of-hospital, low-volume hospital and high-volume hospital (neonatology, intensive care, palliative care, oncology and emergency care). Participants completed the Spanish adaptation of the Professional Quality of Life Scale (ProQOL) version 5 (Escala de Calidad de Vida Profesional) to assess three domains—CS, STS and BO—in relation to the past 30 days.

Results

We obtained a total of 1112 responses from pediatricians. Female respondents amounted to 78.9% of the sample. The distribution by care setting was 35.6% primary care, 34.9% low-volume hospital settings and 29.5% high-volume hospital settings. Most participants scored in the midrange of the three subscales of the ProQOL questionnaire: compassion satisfaction 60.7% (95% CI, 57.8−63.5), burnout 88.8% (95% CI, 86.8−90.5) and secondary traumatic stress 77.2% (95% CI, 74.7−79.6). Women scored significantly higher in the compassion fatigue subscales (BO and STS), while older age was associated with a linear increase in CS and an exponential decrease in STS. Permanent staff scored higher in CS and lower in BO and STS. We found a higher CS score in association with high-load hospital specialties and a higher BO score in association with low-load hospital specialties.

Conclusions

The surveyed sample of Spanish pediatricians showed significant levels of compassion fatigue and secondary traumatic stress, with greater impact among younger and less experienced professionals, temporary workers and female doctors, highlighting the need for further study and targeted educational interventions.
目的:了解西班牙全国儿科医学专业人员同情满意度(CS)、继发性创伤应激(STS)和工作倦怠(BO)的患病率,并确定哪些人口统计学和工作相关因素影响其发展。方法:我们通过西班牙儿科协会(AEP)向其成员发送的在线匿名问卷,对儿科医生进行了横断面研究。我们收集了人口统计变量、专业类别(儿科医学实习生/住院医师或儿科医生)、主要护理环境和就业类型、儿科特定领域、主要工作领域、一般工作经验持续时间和当前职位时间的数据。护理环境进一步分为三组:院外、小容量医院和大容量医院(新生儿科、重症监护室、姑息治疗、肿瘤科和急诊)。参与者完成了西班牙语版的职业生活质量量表(ProQOL)第5版(Escala de Calidad de Vida Professional),以评估过去30天的三个领域- cs, STS和bo。结果:我们共获得了1112份儿科医生的回复。女性受访者占样本的78.9%。按护理环境分布为35.6%的初级保健、34.9%的小容量医院和29.5%的大容量医院。大多数参与者在ProQOL问卷的三个分量表中得分处于中间位置:同情满意度60.7% (95% CI, 57.8-63.5),倦怠88.8% (95% CI, 86.8-90.5),继发性创伤应激77.2% (95% CI, 74.7-79.6)。女性在同情疲劳亚量表(BO和STS)上得分显著较高,而年龄越大,CS呈线性增加,STS呈指数下降。长期雇员在社会服务方面得分较高,而在社会服务及社会服务方面得分较低。我们发现高负荷医院专科有较高的CS评分,低负荷医院专科有较高的BO评分。结论:西班牙儿科医生的同情疲劳和继发性创伤应激水平显著,在年轻和经验不足的专业人员、临时工和女医生中影响更大,需要进一步研究和有针对性的教育干预。
{"title":"Compassion satisfaction, secondary traumatic stress and burnout: quality of working life in the field of pediatrics in Spain","authors":"María José Peláez Cantero ,&nbsp;Iñigo Noriega Echevarría ,&nbsp;Juan Pablo García-Iñiguez ,&nbsp;Felipe Verjano Sánchez ,&nbsp;Ester Barrios Miras ,&nbsp;Inés del Río Pastoriza ,&nbsp;María Jesús Alijas Merillas ,&nbsp;Francisco Moreno Madrid ,&nbsp;Isolina Riaño Galán ,&nbsp;José Antonio Salinas Sanz ,&nbsp;en representación del Comité de Bioética de la Asociación Española de Pediatría","doi":"10.1016/j.anpede.2025.504012","DOIUrl":"10.1016/j.anpede.2025.504012","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the prevalence of compassion satisfaction (CS), secondary traumatic stress (STS) and job exhaustion or burnout (BO) in medical professionals specialized in pediatrics at the national level in Spain and determine which demographic and work-related factors affect their development.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study in pediatricians by means of questionnaires sent by the Spanish Association of Pediatrics (AEP) to its members, which were completed online and anonymously. We collected data on demographic variables, professional category (medical intern/resident [MIR] in pediatrics or pediatrician), main care setting and type of employment, specific field within pediatrics, main field of work, duration of work experience in general and time in current position. Care settings were further categorized into three groups: out-of-hospital, low-volume hospital and high-volume hospital (neonatology, intensive care, palliative care, oncology and emergency care). Participants completed the Spanish adaptation of the Professional Quality of Life Scale (ProQOL) version 5 (<em>Escala de Calidad de Vida Profesional</em>) to assess three domains—CS, STS and BO—in relation to the past 30 days.</div></div><div><h3>Results</h3><div>We obtained a total of 1112 responses from pediatricians. Female respondents amounted to 78.9% of the sample. The distribution by care setting was 35.6% primary care, 34.9% low-volume hospital settings and 29.5% high-volume hospital settings. Most participants scored in the midrange of the three subscales of the ProQOL questionnaire: compassion satisfaction 60.7% (95% CI, 57.8−63.5), burnout 88.8% (95% CI, 86.8−90.5) and secondary traumatic stress 77.2% (95% CI, 74.7−79.6). Women scored significantly higher in the compassion fatigue subscales (BO and STS), while older age was associated with a linear increase in CS and an exponential decrease in STS. Permanent staff scored higher in CS and lower in BO and STS. We found a higher CS score in association with high-load hospital specialties and a higher BO score in association with low-load hospital specialties.</div></div><div><h3>Conclusions</h3><div>The surveyed sample of Spanish pediatricians showed significant levels of compassion fatigue and secondary traumatic stress, with greater impact among younger and less experienced professionals, temporary workers and female doctors, highlighting the need for further study and targeted educational interventions.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504012"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145508357","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
Responding to structural symptoms: social pediatrics towards 2030 应对结构性症状:面向2030年的社会儿科学。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503986
Raquel Páez González , Carmen Vidal Palacios , Manel Sobrino Toro
{"title":"Responding to structural symptoms: social pediatrics towards 2030","authors":"Raquel Páez González ,&nbsp;Carmen Vidal Palacios ,&nbsp;Manel Sobrino Toro","doi":"10.1016/j.anpede.2025.503986","DOIUrl":"10.1016/j.anpede.2025.503986","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 503986"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145508363","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
Left pulmonary artery sling in a pediatric cohort: A single-center 20-year experience 左肺动脉悬吊在儿科队列:单中心20年经验。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.503999
Laia Brunet-Garcia , Flavio Zuccarino , Juan Manuel Carretero Bellon
{"title":"Left pulmonary artery sling in a pediatric cohort: A single-center 20-year experience","authors":"Laia Brunet-Garcia ,&nbsp;Flavio Zuccarino ,&nbsp;Juan Manuel Carretero Bellon","doi":"10.1016/j.anpede.2025.503999","DOIUrl":"10.1016/j.anpede.2025.503999","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 503999"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145282120","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
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。
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
{"title":"In response to the article «Reluctance of parents to immunize their children with nirsevimab»","authors":"David Andina Martínez ,&nbsp;Esther Fernández Mozo ,&nbsp;Rocio Trincado Lamuño ,&nbsp;Jose Antonio Alonso-Cadenas ,&nbsp;en nombre del Grupo de Trabajo sobre el Impacto de la profilaxis universal del Virus Respiratorio Sincitial en España","doi":"10.1016/j.anpede.2025.504015","DOIUrl":"10.1016/j.anpede.2025.504015","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504015"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145411016","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
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
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,&nbsp;Víctor José Asensio,&nbsp;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。
Pub Date : 2025-11-01 DOI: 10.1016/j.anpede.2025.504021
Ramy Álvaro Hamaui Akkad, Carolina Vizcaíno Díaz
{"title":"Nystagmus as a manifestation of epileptic seizures in a neonate with an SCN3A gene alteration","authors":"Ramy Álvaro Hamaui Akkad,&nbsp;Carolina Vizcaíno Díaz","doi":"10.1016/j.anpede.2025.504021","DOIUrl":"10.1016/j.anpede.2025.504021","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504021"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145454245","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
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1