Anales de pediatria最新文献

{"title":"Current situation and new steps in newborn screening in Spain","authors":"María L. Couce ,&nbsp;María Cernada ,&nbsp;Hector Boix ,&nbsp;María Dolores Sánchez-Redondo ,&nbsp;María Gracia Espinosa Fernández ,&nbsp;Noelia González-Pacheco ,&nbsp;Ana Martín ,&nbsp;Alejandro Pérez-Muñuzuri ,&nbsp;en representación del Comité de Estándares Sociedad Española de Neonatología","doi":"10.1016/j.anpede.2025.503775","DOIUrl":"10.1016/j.anpede.2025.503775","url":null,"abstract":"<div><div>After more than 50 years of experience, newborn screening (NBS) programs represent one of the most significant advancements in public health, particularly in pediatric and neonatal care, benefiting almost 350 000 children annually in Spain. Following the inclusion of congenital hearing loss screening in 2003 and screening for seven congenital diseases by newborn blood spot test in 2014 as part of the population-wide neonatal screening program of the National Health System (NHS), significant advances have been achieved in recent years. This progress is evident in the implementation of screening for critical congenital heart diseases, approved in January 2024 by the National Public Health Commission of the Interterritorial Council of the NHS, as well as screening for congenital diseases through the newborn blood spot test, with the incorporation of new conditions enabled by advances in second-tier testing and emerging scientific evidence. Neonatologists and pediatricians must keep abreast of these developments and where the field is heading, as even more rapid progress may take place with the advent of genomic newborn screening.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 3","pages":"Article 503775"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143569273","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":"Zigomatic mastoiditis: An atypical presentation to consider","authors":"Natalia Paniagua ,&nbsp;Ana Fernandez ,&nbsp;Lucía Elorriaga-Sanzano ,&nbsp;Guillermo González-Zapico","doi":"10.1016/j.anpede.2025.503737","DOIUrl":"10.1016/j.anpede.2025.503737","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 3","pages":"Article 503737"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607617","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":"Impact of sleep hygiene education on sleep and nutrition in children aged 10–18 years","authors":"Çiğdem Müge Haylı ,&nbsp;Seockhoon Chung ,&nbsp;Dilek Demir Kösem","doi":"10.1016/j.anpede.2024.503745","DOIUrl":"10.1016/j.anpede.2024.503745","url":null,"abstract":"<div><h3>Introduction</h3><div>Sleep quality has positive effects on children’s sleep and eating habits. In turn, improvement in sleep quality is associated with sleep hygiene training. The aim of our study was to determine the impact of sleep hygiene education on sleep and nutrition management in children aged 10–18 years. In addition, we explored the association between sleep problems and eating behaviours in participants before and after the training programme.</div></div><div><h3>Methods</h3><div>We conducted a quasi-experimental study between August 25 and December 27, 2023, in children aged 10–18 years who participated in the study on a voluntary basis with the consent of their parents. We collected data from a total of 80 children aged 12–18 years. The study investigated the relationship between sleep problems and eating behaviours. We randomly allocated participants to one of two groups, the training group or the waitlist group. We assessed the association between changes in sleep problems and changes in eating behaviours in the training group. The data were collected using a sociodemographic data form, the Children’s Sleep Habits Questionnaire, and the Three-Factor Eating Questionnaire.</div></div><div><h3>Results</h3><div>In the study sample, the proportions of male and female participants (training group) were 60.0% and 40.0%, respectively. There was a statistically significant difference between the pretest and post-test scores in the Children’s Sleep Habits Questionnaire and the Three-Factor Eating Questionnaire (<em>P</em> &lt; .01) and significant differences in the changes in sleep and eating habit scores between groups between the pre- and post-sleep hygiene training timepoints (<em>P</em> &lt; .01). Thus, we concluded that sleep hygiene training is associated with and has an impact on sleep and nutrition.</div></div><div><h3>Conclusion</h3><div>We observed that in children aged 10–18 years, sleep problems were associated with their eating behaviours. Sleep hygiene education had a significant and favourable impact on sleep and nutrition outcomes. Thus, sleep hygiene training has an important effect on children’s sleep and diet.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503745"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985819","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":"From publication to action for early detection, surveillance and intervention in cerebral palsy in Spain—Who, how and now","authors":"Álvaro Hidalgo-Robles ,&nbsp;Javier Merino-Andrés ,&nbsp;María del Mar Batista-Guerra ,&nbsp;Cristina Herráiz-Perea","doi":"10.1016/j.anpede.2025.503715","DOIUrl":"10.1016/j.anpede.2025.503715","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503715"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967500","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":"Kidney manifestations of COL4A1 mutations: a report of three cases","authors":"Ana Roche-Gomez,&nbsp;Lidia Niño Díaz,&nbsp;Cristina Julia Blázquez Gómez,&nbsp;Mar Espino Hernández","doi":"10.1016/j.anpede.2024.503740","DOIUrl":"10.1016/j.anpede.2024.503740","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503740"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973745","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":"Key differential diagnosis in midline injuries","authors":"Isabel Gordo Baztán ,&nbsp;María Erroz Ferrer ,&nbsp;Miren Oscoz Lizarbe ,&nbsp;Nerea Gorria Redondo","doi":"10.1016/j.anpede.2025.503703","DOIUrl":"10.1016/j.anpede.2025.503703","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503703"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048482","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":"Rethinking value in science: Moving beyond the stigma of artificial intelligence in academic communication","authors":"Carlos González Morcillo","doi":"10.1016/j.anpede.2025.503696","DOIUrl":"10.1016/j.anpede.2025.503696","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503696"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048484","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":"From publication to action for early detection, surveillance and intervention in cerebral palsy in Spain - who, how and now. Authors reply","authors":"Miriam Martínez-Biarge ,&nbsp;Montesclaros Hortigüela ,&nbsp;David Conejo ,&nbsp;Juan Arnaez","doi":"10.1016/j.anpede.2025.503734","DOIUrl":"10.1016/j.anpede.2025.503734","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503734"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061742","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":"Noninvasive ventilation for stabilization of patients with acute bronchiolitis during interhospital transport","authors":"Santiago Rodríguez-Tubío Dapena ,&nbsp;Miriam Morey-Olivé ,&nbsp;María Romero-Carmona ,&nbsp;Laia Reixach-Asperó ,&nbsp;Montserrat Pujol-Jover","doi":"10.1016/j.anpede.2025.503744","DOIUrl":"10.1016/j.anpede.2025.503744","url":null,"abstract":"<div><h3>Objective</h3><div>To describe and compare the characteristics of patients with acute bronchiolitis (AB) transported between hospitals with noninvasive ventilation (NIV), initiated either by the paediatric transport team (PTT) or by the sending hospital (SH).</div></div><div><h3>Methods</h3><div>Retrospective, observational, single-centre study conducted by one PTT. We included all transports between 2 hospitals of patients with AB in which NIV was used between January 2021 and March 2024.</div></div><div><h3>Results</h3><div>The sample included 263 transports with NIV, with initiation of NIV by the SH in 119 (45.2%) and by the PTT in 144 (54.8%). Initiation of NIV by the SH was associated with a shorter stabilization time, with a median of 40<!--> <!-->min (IQR: 33.3–47) compared to initiation by the PTT group, with a median of 47<!--> <!-->min (IQR: 40–56). The scores in the BROSJOD severity scale and the oxygen requirements were lower, both at the beginning and at the end of transport, in the group of patients in whom NIV was initiated at the SH. Incidents were documented in 14.1% (n<!--> <!-->=<!--> <!-->37) of transports, with a higher frequency of minor complications in the SH-initiated group, chiefly leaks and patient-ventilator asynchrony.</div></div><div><h3>Conclusions</h3><div>Patients with bronchiolitis who required transport with NIV benefited from early initiation of support in RH, as they were in better clinical condition during transport. Training SH staff in the use of NIV could decrease the incidence of the potential complications associated with this technique.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503744"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143375117","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":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes","authors":"Elida Mercado Santis ,&nbsp;Ariadna Campos ,&nbsp;Paula Fernández ,&nbsp;Josep Oriola ,&nbsp;Diego Yeste ,&nbsp;Víctor Pérez ,&nbsp;María Clemente","doi":"10.1016/j.anpede.2025.503747","DOIUrl":"10.1016/j.anpede.2025.503747","url":null,"abstract":"<div><h3>Introduction</h3><div>11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%–8% of cases). Clinically, it is characterized by virilization and arterial hypertension. The objective of this study was to describe the clinical, biochemical and genetic characteristics classic 11β-OH deficiency in patients managed in our hospital and its outcomes.</div></div><div><h3>Patients and methods</h3><div>Retrospective longitudinal, observational and descriptive study. Inclusion criteria: Patients with clinical features of virilization, high levels of 11-deoxycortisol and study of <em>CYP11B1</em> gene with detection of pathogenic and likely pathogenic variants.</div></div><div><h3>Results</h3><div>We identified 6 patients (1 male, 5 female) from 4 families. In the 4 index cases, the median age at diagnosis was 2.3 years. The 46,XX patients exhibited a variable degree of virilization at diagnosis, with a predominance of Prader stage V, and one case of male sex assignment at birth. All patients had elevated serum concentrations of 17-hydroxyprogesterone and testosterone. Fifty percent of the patients had developed arterial hypertension during the follow-up, with onset at a median age of 9.3 years. Three 46,XX patients reached a median final height of 154 cm. Six different variants of the<em>CYP11B1</em> gene were identified, 5 of which were novel variants (c.595 G &gt; A, c.710 T &gt; C, c.1156delG, c.395 + 2dupT, c.1159dupA).</div></div><div><h3>Conclusions</h3><div>There is considerable heterogeneity in the clinical presentation of patients with CAH due to 11β-OH deficiency. Early diagnosis and treatment are important to prevent complications and improve long-term outcomes. We report 6 different variants of the <em>CYP11B1</em> gene, including 5 novel variants.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503747"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426004","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}