Anales de pediatria最新文献

{"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}

{"title":"Neuromonitoring and follow-up in patients with congenital heart disease in Spain","authors":"Alexandra Belfi ,&nbsp;Laia Vega ,&nbsp;Marta Aguar ,&nbsp;María Carmen Bravo ,&nbsp;Débora Cañizo ,&nbsp;Laura Díaz Rueda ,&nbsp;Marta Camprubí-Camprubí","doi":"10.1016/j.anpede.2025.503739","DOIUrl":"10.1016/j.anpede.2025.503739","url":null,"abstract":"<div><h3>Introduction</h3><div>There is evidence of the high incidence of neurological abnormalities in patients with congenital heart disease (CHD). Despite this, perioperative neuromonitoring strategies and long-term follow-up protocols are not standardized in Spain.</div></div><div><h3>Objective</h3><div>The aim of our study was to describe current clinical practice in neuromonitoring, neuroimaging and neurodevelopmental follow-up in patients with CHD in Spanish hospitals that perform paediatric cardiac surgery (PCS).</div></div><div><h3>Material and method</h3><div>We conducted a survey by adapting a questionnaire originally developed by the European Association Brain and Congenital Heart Disease Consortium to collect data on aspects such as the implementation of perioperative neuromonitoring and the type of neuroimaging techniques and neurological follow-up performed. The questionnaire was distributed to the 19 Spanish hospitals that perform PCS.</div></div><div><h3>Results</h3><div>We received responses from 17 centres. Eighty-eight percent performed some type of preoperative neuroimaging and 81% postoperative monitoring. The most widely used technique was transfontanellar sonography. Fifty-six percent of the centres used some form of intraoperative neuromonitoring, most frequently near-infrared spectroscopy. Nineteen percent had an established protocol for the follow-up of these patients and 13% were in the process of developing it.</div></div><div><h3>Conclusions</h3><div>There is considerable heterogeneity in neuromonitoring, neuroimaging and neurologic follow-up practices in the management of patients with CHD in hospitals that perform PCS in Spain. These findings highlight the need to pursue a consensus in order to standardise neuromonitoring and neurologic follow-up strategies in children with CHD in Spain.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503739"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426676","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":"Fatal gastric perforation caused by Chlostridium ventriculi. A rare presentation of abdominal pain","authors":"Felipe Stacey ,&nbsp;Pablo Moreno Santabarbara ,&nbsp;Andrea Feu Llauradó ,&nbsp;Javier Rodríguez-Fanjul","doi":"10.1016/j.anpede.2024.503741","DOIUrl":"10.1016/j.anpede.2024.503741","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503741"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061741","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":"Budd-Chiari syndrome secondary to diaphragmatic hernia","authors":"Antonio Palacios Prados,&nbsp;Laura Almendro García,&nbsp;Alexander Siles Hinojosa,&nbsp;Sara Hernández del Arco","doi":"10.1016/j.anpede.2025.503702","DOIUrl":"10.1016/j.anpede.2025.503702","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503702"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082543","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":"Recommendations for the perinatal management and follow-up of moderate and late preterm infants","authors":"Sílvia Martínez-Nadal ,&nbsp;Gemma Ginovart Galiana ,&nbsp;Félix Morales Luengo ,&nbsp;María Jesús Rodríguez Revuelta ,&nbsp;Mercedes García Reymundo ,&nbsp;Sara Ansó Oliván ,&nbsp;José Antonio Hurtado Suazo","doi":"10.1016/j.anpede.2025.503714","DOIUrl":"10.1016/j.anpede.2025.503714","url":null,"abstract":"<div><div>Problems related to prematurity are the main cause of morbidity in newborns and infants. Between 80% and 85% of preterm babies are born between 32⁰ and 36⁶ weeks of gestation. In Spain, there is no guide for the perinatal management and long-term follow-up of moderately and late preterm (MLPT) infants.</div><div>For this reason, the SEN32-36 group of the Spanish Society of Neonatology has developed a guideline with recommendations for both perinatal management (prenatal care, initial care in the delivery room and ward, neonatal respiratory pathology, breastfeeding and feeding difficulties, hyperbilirubinaemia and hospital discharge) and long-term follow-up (neurodevelopment, nutrition and follow-up, prevention of respiratory disease after discharge and immunizations), grading them according to the Agency for Health Care Research and Quality scales of research quality and levels of evidence. The main goal was improving and standardizing the care of MLPT infants.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503714"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371398","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":"Factors associated with later toilet training and longer training times: A multicenter cross-sectional study","authors":"Miguel Ángel Carro Rodríguez ,&nbsp;Josefa Barrio Torres ,&nbsp;Sara Beatriz García Chaguaceda ,&nbsp;Beatriz Martínez Escribano","doi":"10.1016/j.anpede.2025.503709","DOIUrl":"10.1016/j.anpede.2025.503709","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503709"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426006","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":"Somatization in childhood and adolescence: a guide to facilitate its understanding","authors":"Azucena Díez-Suárez ,&nbsp;Cecilia Hernández-González","doi":"10.1016/j.anpede.2025.503711","DOIUrl":"10.1016/j.anpede.2025.503711","url":null,"abstract":"<div><div>Somatic symptoms affect approximately 25% of children and adolescents, with a significant impact in 10%, and somatization disorders affect 1%–3% of the population. In addition to somatic symptom disorder, illness anxiety disorder (or hypochondria), conversion disorder and factitious disorder may be common reasons for seeking care. Somatization is associated with anxiety and depressive symptoms throughout the lifespan. There are widespread myths regarding somatization, and it is essential that all professionals who treat children are familiar with them. The basis of the treatment of somatization is the development of an individualized rehabilitation program with the main goal of gradually returning to normal function. A paediatrician, psychiatrist or psychologist can direct the treatment, but the approach must always be interdisciplinary, including nursing staff, physical and occupational therapists, teachers or school counsellors. There is limited evidence on the treatment of somatic symptoms, but cognitive behavioural therapy and antidepressants have been found to be effective in cases of greater severity or with psychiatric comorbidity. Analgesics should be used rationally, favouring non-pharmacological pain management measures.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503711"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426734","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":"Neonatal diagnosis of cervical limited dorsal myeloschisis","authors":"Esther Aguilera Rodríguez ,&nbsp;María Luisa Egea Giménez ,&nbsp;Esperanza Arcas Navarrete ,&nbsp;Javier Diez-Delgado Rubio","doi":"10.1016/j.anpede.2025.503700","DOIUrl":"10.1016/j.anpede.2025.503700","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 2","pages":"Article 503700"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076659","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 central nervous system tumour survivors in a spanish hospital","authors":"Ivonne Marcela Rincón-Mantilla ,&nbsp;Blanca Herrero ,&nbsp;Elena Herranz Valero ,&nbsp;Fernando Robles-Bermejo ,&nbsp;Alba Herrera-Olivares ,&nbsp;Felisa Vázquez-Gómez ,&nbsp;Álvaro Lassaletta","doi":"10.1016/j.anpede.2024.503719","DOIUrl":"10.1016/j.anpede.2024.503719","url":null,"abstract":"<div><h3>Introduction</h3><div>Despite the increasing number of central nervous system (CNS) tumour survivors, long-term (LT) sequelae remain a substantial burden on their health through various life stages. The aim of our study was to evaluate late morbidity, health-related quality of life (HRQoL), self-esteem, functional status, adaptive behaviour, physical activity and social outcomes such as education, employment, relationship status and possession of a driver’s license, in addition to the role of LT effects of radiotherapy (RTx) on these outcomes.</div></div><div><h3>Methods</h3><div>The study included 111 CNS tumour survivors with a minimum of 10 years of follow-up. The assessment of patients included a comprehensive clinical evaluation and psychological questionnaires: SF-36 for HRQoL and Rosenberg self-esteem scale. Functional status was assessed with the Lansky/Karnosky scales and adaptive behaviour with the Vineland-II scale. Patients also completed one questionnaire that assessed physical activity and another that assessed other social variables.</div></div><div><h3>Results</h3><div>The mean current age of CNS tumour survivors was 20 years (range, 12–34). The median time since diagnosis was 13 years (range, 10–26). The median age at diagnosis was 6 years (range, 1–18). The most prevalent LT sequelae were neurologic (55%), followed by neuropsychiatric (53.1%) and endocrine (49.5%) sequelae. Survivors treated with RTx (n = 52) had poorer outcomes in terms of adaptive behaviour, educational attainment and relationship status compared to those who did not receive RTx, but we did not find differences in quality of life or self-esteem scores between these groups.</div></div><div><h3>Conclusion</h3><div>We found a high prevalence of long-term sequelae in CNS tumour survivors, especially in those who received RTx. In these patients, LT sequelae have a significant impact on functional status and social outcomes, but not on quality of life or self-esteem.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503719"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967442","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":"Immunisation schedule of the Pediatric Spanish Association: 2025 recommendations","authors":"Francisco José Álvarez García ,&nbsp;Antonio Iofrío de Arce ,&nbsp;Javier Álvarez Aldeán ,&nbsp;Elisa Garrote Llanos ,&nbsp;Lucía López Granados ,&nbsp;María Luisa Navarro Gómez ,&nbsp;Valentín Pineda Solas ,&nbsp;Irene Rivero Calle ,&nbsp;Jesús Ruiz-Contreras ,&nbsp;Ignacio Salamanca de la Cueva ,&nbsp;Pepe Serrano Marchuet","doi":"10.1016/j.anpede.2024.503713","DOIUrl":"10.1016/j.anpede.2024.503713","url":null,"abstract":"<div><div>The AEP 2025 Vaccination and Immunization Schedule recommended for children, adolescents and pregnant women residing in Spain features the following novelties:</div><div>Due to the increase in measles cases and outbreaks in recent years, we recommend advancing the second dose of measles, mumps and rubella (MMR) vaccine to 2 years of age.</div><div>As a consequence of the above, since many autonomous communities (ACs) use the quadrivalent vaccine for the second dose of MMR and varicella vaccines, we recommend, for all ACs, advancing the second dose of varicella vaccine to 2 years of age.</div><div>Due to the very significant increase in cases of pertussis since late 2023 and especially in 2024, we recommend advancing the dose of Tdap given in adolescence to 10–12 years of age.</div><div>To complete protection against meningococcal disease in adolescence, we recommend vaccination against MenB at age 12 years.</div><div>We believe that vaccination against seasonal influenza should be routine up to age 18 years, but given the disappointing coverage in children aged 6–59 months, we currently consider that improving this coverage should be prioritised, extending vaccination to children and adolescents aged 5–18 years once this objective has been achieved.</div><div>Among other aspects, the routine immunization tables for healthy individuals and risk groups, the use of the new extended-valence conjugate vaccines against pneumococcal disease, routine vaccination at 4 months of age with MenACWY and vaccination against SARS-CoV-2 for individuals aged more than 6 months with risk factors remain unchanged with respect to the 2024 schedule.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 1","pages":"Article 503713"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025975","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}