Anales de pediatria最新文献

{"title":"Genetic counselling in the era of next generation sequencing","authors":"Diego Espada-Musitu,&nbsp;África Manero-Azua,&nbsp;Yerai Vado,&nbsp;Guiomar Perez de Nanclares","doi":"10.1016/j.anpede.2024.503712","DOIUrl":"10.1016/j.anpede.2024.503712","url":null,"abstract":"<div><div>Advances in next-generation sequencing (NGS) technologies have made the detection of the molecular causes of paediatric diseases increasingly affordable, accessible and rapid. While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. The clinical application of NGS has raised many challenges in genetic counselling for families in terms of the interpretation of test results and incidental findings, as well as technical limitations in the event of inconclusive results. Given the impact of genetic results in clinical decision-making, specialized knowledge is required of the techniques and methods used in genetic studies, their advantages and limitations, and their potential psychosocial, legal and ethical impact on patients, relatives and health care professionals. The ethical implications of parents giving consent to genetic testing in their offspring and the potential disclosure of genetic diseases for which there are limited therapeutic options are still under debate. In this review, we provide an overview of all these aspects, including the advantages and limitations of current NGS techniques, and discuss the possibilities of upcoming solutions.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503712"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cervical aortic arch: a rare congenital anomaly","authors":"Alba Salgado-Parente ,&nbsp;Ana García deVicente ,&nbsp;Javier Alarcón-Rodríguez ,&nbsp;Natalia Rivero Jiménez","doi":"10.1016/j.anpede.2024.503697","DOIUrl":"10.1016/j.anpede.2024.503697","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503697"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antibiotic therapy in children hospitalized for viral respiratory infections: magnitude and related factors","authors":"Inés Ferrer Ortiz ,&nbsp;Pilar Andrés Porras ,&nbsp;Nuria Cabeza Arce ,&nbsp;Isabel Bullón González ,&nbsp;Alfredo Cano","doi":"10.1016/j.anpede.2024.503708","DOIUrl":"10.1016/j.anpede.2024.503708","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503708"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Design and validation of a questionnaire on habits, health and exercise in the use of baby carriers","authors":"Yaiza Taboada-Iglesias ,&nbsp;María del Carmen Iglesias-Pérez ,&nbsp;Águeda Gutiérrez-Sánchez","doi":"10.1016/j.anpede.2024.503717","DOIUrl":"10.1016/j.anpede.2024.503717","url":null,"abstract":"<div><h3>Introduction</h3><div>Understanding the characteristics and implications of the use of baby carriers can help health care providers understand the habits of their patients and provide guidance to improve quality of life in both children and caregivers. The aim of our study was to design and validate the first self-administered questionnaire to assess babywearing habits and their impact on health and physical activity as a means to monitor musculoskeletal complaints in caregivers.</div></div><div><h3>Material and methods</h3><div>350 individuals who currently used or had used baby carrying systems in the last 10 years completed the questionnaire, which was previously subject to a pilot study in a panel of experts. We used exploratory factor analysis to assess the validity of the internal structure of the questionnaire. The Cronbach α coefficient was used to assess reliability. We used varimax rotation to improve the interpretation of the extracted factors.</div></div><div><h3>Results</h3><div>The factor analysis showed that the questionnaire is appropriate for measuring the dimensions or carriage factors established a priori. It extracted 3 factors each for the constructs of duration and weight of carriage, motivation, exercise habits and effects on infant health and 2 factors for caregiver pain that explained between 55% and 72% of the variance in each construct. The Cronbach α values were greater than 0.5.</div></div><div><h3>Conclusions</h3><div>The results support the validity of the questionnaire and demonstrate that it is useful for its intended purpose.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503717"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transition to competent oral feeding in preterm infants: Analyzing timing and determinants","authors":"Gabriela Bolea Muguruza ,&nbsp;Cristina de Frutos Martínez ,&nbsp;M. Teresa Tamayo Martínez ,&nbsp;Judith Martín Corral","doi":"10.1016/j.anpede.2024.503718","DOIUrl":"10.1016/j.anpede.2024.503718","url":null,"abstract":"<div><h3>Introduction</h3><div>The achievement of oral feeding competence (OFC) is a challenge in preterm infants and can be affected by several factors.</div></div><div><h3>Objective</h3><div>The aim of our study was to determine the time elapsed to development of OFC in very low birth weight (VLBW, weight &lt;<!--> <!-->1500<!--> <!-->g) preterm infants and to identify factors associated with greater difficulty in achieving this skill.</div></div><div><h3>Population and methods</h3><div>Observational, longitudinal and prospective study in VLBW infants over a period of 7 years (2016–2022). We collected data on perinatal variables, feeding practices and complications associated with prematurity. We analyzed the number of days needed to achieve OFC and which variables predicted greater delay in achieving OFC.</div></div><div><h3>Results</h3><div>We included 145 VLBW infants with a median gestational age (GA) of 29 weeks with a weight of 1247<!--> <!-->g. Oral feeding was initiated at 33.6 weeks (SD, 1.2) and full oral feeding was achieved at 35.9 weeks (SD, 1.9). The median time to achievement of OFC was 15 days (8–22.5). The variables associated with longer delay of OFC were severe combined morbidity (24 vs 14 days; <em>P</em> <!-->&lt;<!--> <!-->.001) and moderate/severe bronchopulmonary dysplasia (23 vs 14 days; <em>P</em> <!-->&lt;<!--> <!-->.001). In infants without severe combined morbidity, we found no differences in the days elapsed to achievement of OFC between those born before or after 28 weeks of GA (<em>P</em> <!-->=<!--> <!-->.131).</div></div><div><h3>Conclusions</h3><div>Our findings highlight the importance of structuring the transition to oral feeding and identifying the most at-risk group, which in our study were infants with severe morbidity associated with prematurity, for the purpose of targeting potential interventions.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503718"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current situation of Specialized Health Training in pediatrics and its specific areas: Challenges and needs","authors":"Pedro Gorrotxategi Gorrotxategi,&nbsp;Ángel Carrasco Sanz,&nbsp;Teresa Cenarro Guerrero,&nbsp;Teresa Arana Navarro,&nbsp;en representación del Ejecutivo de la Asociación Española de Pediatría de Atención Primaria","doi":"10.1016/j.anpede.2025.503716","DOIUrl":"10.1016/j.anpede.2025.503716","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503716"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"If triage works, the ED works","authors":"Ana Fernandez ,&nbsp;Santiago Mintegi","doi":"10.1016/j.anpede.2024.10.014","DOIUrl":"10.1016/j.anpede.2024.10.014","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"101 6","pages":"Pages 367-369"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paediatric pulmonologists’ views on the first nirsevimab immunisation campaign in Spain","authors":"Beatriz Solís Gómez ,&nbsp;Silvia Castillo Corullón ,&nbsp;Verónica Sanz Santiago ,&nbsp;Antonio Moreno Galdó","doi":"10.1016/j.anpede.2024.09.011","DOIUrl":"10.1016/j.anpede.2024.09.011","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"101 6","pages":"Pages 423-425"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical, social, and emotional impact on patients with congenital heart disease undergoing cardiac catheterization","authors":"Maricel Licht-Ardila ,&nbsp;Alexandra Hurtado-Ortiz ,&nbsp;Edgar Fabián Manrique-Hernández ,&nbsp;Justo José Santiago Peña","doi":"10.1016/j.anpede.2024.10.006","DOIUrl":"10.1016/j.anpede.2024.10.006","url":null,"abstract":"<div><h3>Introduction</h3><div>The management of congenital heart disease (CHD) has evolved, improving patient outcomes; however, challenges persist for patients, emphasizing the importance of assessing health-related quality of life (HRQoL). The widely used Pediatric Quality of Life Inventory underscores the relevance of HRQoL assessment, especially in children subject to medical procedures.</div></div><div><h3>Objective</h3><div>To evaluate HRQoL in children with congenital heart disease undergoing cardiac catheterization, analysing its association with clinical and sociodemographic variables in a tertiary care hospital.</div></div><div><h3>Materials and methods</h3><div>We conducted a cross-sectional study in paediatric patients aged 2–18 years undergoing haemodynamic procedures for congenital heart diseases. We used the Pediatric Quality of Life Inventory (PedsQL) to assess HRQoL. The statistical analysis included descriptive statistics, χ² tests, Kruskal–Wallis tests and multivariate linear regression analysis with the aim of identifying factors associated with HRQoL.</div></div><div><h3>Results</h3><div>The sample included 164 patients, among whom pulmonary atresia and patent ductus arteriosus were frequent diagnoses. Physical functioning and school functioning were significantly impaired, with median scores of 32.14 (IQR, 17.14–62.87) and 56 (IQR, 28–88), respectively. The results were more favourable for emotional functioning and social functioning, with median scores of 62 (IQR, 32–74) and 68 (IQR, 44–100), respectively. Single ventricle defects and pulmonary atresia were associated with lower quality of life scores in emotional functioning (<em>P</em> = .035) and physical functioning (<em>P</em> = .048), respectively.</div></div><div><h3>Conclusion</h3><div>This study highlights the current challenges in evaluating HRQoL for children with CHD. It identified significant associations between specific diagnoses and decreased HRQoL scores, emphasizing the need for comprehensive care strategies.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"101 6","pages":"Pages 378-387"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complications related to the use of peripheral venous catheters","authors":"José Antonio Soler-Simón ,&nbsp;Jesús Molina-Romero ,&nbsp;Julia Cano-Fernández ,&nbsp;Patricia Flores-Pérez ,&nbsp;Marta Taida García-Ascaso","doi":"10.1016/j.anpede.2024.08.008","DOIUrl":"10.1016/j.anpede.2024.08.008","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"101 6","pages":"Pages 411-412"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}