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Secuenciación genómica rápida en unidades de críticos neonatales y pediátricas. Evidencias y situación actual 新生儿和儿科重症监护病房的快速基因组测序。证据与现状
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.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。
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引用次数: 0
Resumen ejecutivo. Cribado, estadificación y seguimiento de la diabetes tipo 1 en estadios preclínicos: consenso de las sociedades científicas SED, SEEN y SEEP 执行摘要。1型糖尿病在临床前阶段的筛查、分期和监测:SED、SEEN和SEEP科学界共识
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.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 (T1D) 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 T1D 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(T1D)是一种自身免疫性疾病,其晚期诊断可导致严重并发症,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T1D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。
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引用次数: 0
Miocardiopatía hipertrófica en enfermedad de Pompe tras avalglucosidasa-alfa 戊糖苷酶α后的肥厚性心肌病
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.2025.504014
Óscar Valer Monterde, Lidia Solanas Lázaro, Lorenzo Jiménez Montañés, Martín Bahón Fauro
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引用次数: 0
Nuevas tecnologías genómicas y su aplicación en pediatría 新的基因组技术及其在儿科中的应用
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.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。
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引用次数: 0
Enfoque basado en la evidencia para la selección del recurso humano de transporte urgente 选择紧急运输人力资源的循证方法
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.2025.503997
Ana Elisa Laso-Alonso , Pablo del Villar-Guerra , Cristina Molinos-Norniella , Vicent Modesto-Alapont , David Pérez-Solís , Alberto Medina-Villanueva

Introduction

Interhospital transport is crucial for ensuring access to specialized care and poses a logistic and clinical challenge that impacts patient safety and resource management. Few tools are available to predict risks in pediatric transport (PT), so a triage scale could help optimize and standardize resources.

Objectives

To analyze the diagnostic accuracy of urgent interhospital transport team selection by health care professionals compared to the use of SCOPETAS, the adapted version Pediatric Transport Triage Tool (PT3), and to assess the agreement between the choices of professionals and those proposed by the scale.

Method

Observational cohort study to evaluate the accuracy of the SCOPETAS scale and the agreement between the actual transport team and the one recommended by the scale, considered the gold standard. We analyzed urgent PT cases (aged 1 month to 14 years) from four regional hospitals to the referral hospital over a one-year period.

Results

The study included a total of 150 PT cases. The weighted kappa for the agreement in team selection was 0.68 (P<.001), with greater discordance in the choice of emergency medical technician (EMT) + nursing teams. The weight of evidence (WoE) for selecting advanced and basic life support was 10.1 dB and 7.54 dB, respectively, compared to 3.93 dB and 3.11 dB for EMT and EMT + nursing teams, respectively. The application of SCOPETAS would have reduced costs and optimized staff availability.

Conclusions

SCOPETAS is a useful and easy-to-apply tool that standardizes PT and optimizes resources. Future research should cover all pediatric age groups and other regions.
医院间运输对于确保获得专业护理至关重要,并对后勤和临床构成挑战,影响患者安全和资源管理。很少有工具可用于预测儿科转运(PT)的风险,因此分诊量表可以帮助优化和标准化资源。目的对比分析使用SCOPETAS(改编版儿科转运分诊工具PT3)的医疗专业人员选择紧急院间转运团队的诊断准确性,并评估专业人员选择与量表建议的一致性。方法采用观察性队列研究,评价SCOPETAS量表的准确性以及实际运输团队与量表推荐团队之间的一致性,认为是金标准。我们分析了四家地区医院到转诊医院一年内的紧急PT病例(1个月至14岁)。结果本研究共纳入PT病例150例。团队选择一致性的加权kappa为0.68 (P<.001),急救医疗技术人员(EMT) +护理团队选择的不一致性较大。选择高级和基本生命支持的证据权重(WoE)分别为10.1 dB和7.54 dB,而选择EMT和EMT +护理团队的证据权重分别为3.93 dB和3.11 dB。SCOPETAS的应用将降低成本并优化工作人员的可用性。结论scopetas是一种简便实用的标准化PT和优化资源的工具。未来的研究应涵盖所有儿科年龄组和其他地区。
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引用次数: 0
Nistagmo como manifestación de crisis epilépticas en un neonato con alteración en el gen SCN3A Nistagmo作为SCN3A基因改变的新生儿癫痫发作的一种表现
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.2025.504021
Ramy Álvaro Hamaui Akkad, Carolina Vizcaíno Díaz
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引用次数: 0
Satisfacción por compasión, estrés traumático secundario y agotamiento laboral: calidad de vida profesional en la pediatría española 同情满足感、继发性创伤性压力和职业倦怠:西班牙儿科的职业生活质量
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.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 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。方法采用西班牙儿科协会(AEP)向其成员发放的在线匿名问卷,对儿科医生进行横断面研究。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。结果共获得1112份儿科医生的反馈。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。大多数被试在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":"Satisfacción por compasión, estrés traumático secundario y agotamiento laboral: calidad de vida profesional en la pediatría española","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.anpedi.2025.504012","DOIUrl":"10.1016/j.anpedi.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 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":7783,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504012"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respondiendo a los síntomas estructurales: pediatría social hacia 2030 应对结构性症状:2030年社会儿科
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.2025.503986
Raquel Páez González , Carme Vidal Palacios , Manuel Sobrino Toro
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引用次数: 0
Lesión mandibular quística en varón de trece años 13岁男性囊性下颌损伤
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-11-01 DOI: 10.1016/j.anpedi.2025.504022
Clara Azón Antón , Beatriz Izquierdo Hernández , Juan Hidalgo Sanz
{"title":"Lesión mandibular quística en varón de trece años","authors":"Clara Azón Antón ,&nbsp;Beatriz Izquierdo Hernández ,&nbsp;Juan Hidalgo Sanz","doi":"10.1016/j.anpedi.2025.504022","DOIUrl":"10.1016/j.anpedi.2025.504022","url":null,"abstract":"","PeriodicalId":7783,"journal":{"name":"Anales de pediatria","volume":"103 5","pages":"Article 504022"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visitas virtuales en pediatría: experiencias, preferencias y expectativas de pacientes y cuidadores 儿科虚拟访问:患者和护理人员的经验、偏好和期望
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2025-10-01 DOI: 10.1016/j.anpedi.2025.503993
Miren Ibarzabal Arregi , Tregony Simoneau , Jonathan M. Gaffin , María Gimeno Castillo , Isabel Castro Garrido , Claudia María Chaverri Reparaz , Laura Moreno-Galarraga

Introduction

Virtual visits (VVs) were used during the pandemic as an alternative to face-to-face visits. Following this experience, the implementation of this type of telemedicine in pediatric care may offer clear advantages and benefits, but it is important to understand the perspectives of both patients and caregivers.

Material and methods

Cross-sectional descriptive with data collection through an online questionnaire distributed via QR code and hosted on REDCap completed anonymously by parents/legal guardians and adolescents (n = 426). We obtained data on sociodemographic characteristics, previous experience with telemedicine and the perceived usefulness of VVs from 316 caregivers and 110 adolescents. We analyzed the associations with demographic variables and performed comparative analyses.

Results

Both groups considered VVs a useful alternative, particularly when it came to primary care and hospital-based follow-up. Caregivers highlighted saving time (53%) and reducing school absenteeism (40%) as the main advantages, whereas adolescents emphasized reducing the environmental impact associated with the visit (48%). The ideal duration was estimated at 5 to15 minutes, and more than 95% agreed that VVs should be offered as a voluntary option. We found a higher level of acceptance among caregivers who were younger, with higher educational attainment, who did not have a private vehicle or who had greater difficulty accessing the hospital. The main concern did not involve data breaches or aspects related to confidentiality (10%), but the possibility of missing the call and therefore the appointment (33%).

Conclusions

Both patients and caregivers support the integration of VVs in pediatric care, provided they remain a voluntary and complementary alternative to in-person care. Future programs should consider user preferences, suggestions and the actual barriers they perceive.
在大流行期间,使用虚拟访问作为面对面访问的替代方法。根据这一经验,在儿科护理中实施这种类型的远程医疗可能会提供明显的优势和好处,但重要的是要了解患者和护理人员的观点。材料和方法横断面描述性数据收集,通过REDCap上的在线问卷(n = 426),问卷通过二维码分发,由父母/法定监护人和青少年匿名填写。我们从316名护理人员和110名青少年中获得了社会人口学特征、远程医疗的既往经验和视频视频的感知有用性的数据。我们分析了与人口统计学变量的关系,并进行了比较分析。结果两组人都认为VVs是一种有用的选择,特别是在初级保健和医院随访方面。照顾者强调节省时间(53%)和减少缺勤(40%)是主要优势,而青少年强调减少与访问相关的环境影响(48%)。理想的持续时间估计为5到15分钟,超过95%的人同意视频视频应该作为一种自愿选择。我们发现,更年轻、受教育程度更高、没有私家车或去医院更困难的护理人员接受度更高。主要的担忧不涉及数据泄露或与保密相关的方面(10%),而是可能错过电话,因此错过约会(33%)。结论:患者和护理人员都支持在儿科护理中整合虚拟诊所,前提是它们仍然是面对面护理的自愿和补充选择。未来的程序应该考虑用户的偏好、建议和他们感知到的实际障碍。
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引用次数: 0
期刊
Anales de pediatria
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