{"title":"New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)","authors":"Sandra Maeso-Méndez , Saioa Jiménez Echevarría , Zuriñe García Casales , Ignacio Díez López","doi":"10.1016/j.anpede.2025.503771","DOIUrl":"10.1016/j.anpede.2025.503771","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503771"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860162","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}
Daniel Palanca Arias , Irene Gil Hernández , Álvaro Boria Alegre , Juan Pablo García Íñiguez
{"title":"Transcranial Doppler in traumatic carotid dissection","authors":"Daniel Palanca Arias , Irene Gil Hernández , Álvaro Boria Alegre , Juan Pablo García Íñiguez","doi":"10.1016/j.anpede.2025.503770","DOIUrl":"10.1016/j.anpede.2025.503770","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503770"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143813032","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}
Ruth García-Romero , Ramón Cancho Candela , José Luis Peña Segura , Víctor Manuel Navas-López , Juan José Díaz Martín
{"title":"Nutritional aspects in patients with cerebral palsy: A multicenter observational study in Spain","authors":"Ruth García-Romero , Ramón Cancho Candela , José Luis Peña Segura , Víctor Manuel Navas-López , Juan José Díaz Martín","doi":"10.1016/j.anpede.2025.503803","DOIUrl":"10.1016/j.anpede.2025.503803","url":null,"abstract":"<div><h3>Introduction</h3><div>Cerebral palsy (CP) encompasses a group of motor disorders that can result in swallowing difficulties, affecting food intake and contributing to poor nutritional status. The goal of the study was to describe the clinical and nutritional characteristics of Spanish children with CP.</div></div><div><h3>Methods</h3><div>Multicenter observational study conducted in children aged 4–14 years with a diagnosis of CP. For every patient, we collected data on sociodemographic and clinical characteristics as well as anthropometric measurements, schooling modality, nutrition received at school, nutritional support and gastrointestinal comorbidities.</div></div><div><h3>Results</h3><div>The sample included a total of 112 patients with a mean age of 9.2 years old. The majority (70.5%) had been classified as Gross Motor Function Classification System (GMFCS) level IV or V. Compared to children classified as GMFCS level I, II or III, the group of children with GMFCS level IV/V had significantly lower mean <em>z</em> scores in body weight, height, weight-to-height ratio, body mass index and upper arm circumference and a significant lower mean arm area. A higher proportion of patients with GMFCS level IV/V attended special education schools compared to patients classified as level I to III (68.4% vs. 12.1%; <em>P</em> < .0001). A higher proportion of children classified as level IV/V compared to children classified as levels I to III presented dysphagia (62.0% vs. 15.2%; <em>P</em> < .0001), constipation (51.9% vs. 27.3%, <em>P</em> = .0218) and gastroesophageal reflux (31.6% vs. 3.0%; <em>P</em> = .0005).</div></div><div><h3>Conclusions</h3><div>Our study shows that Spanish children with CP, especially those with severe motor impairment, are at risk of malnutrition, present gastrointestinal comorbidities and require nutritional support.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503803"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538230","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}
Raquel Torres-Luna , María Carmen Sellán Soto , Francisco Reinoso-Barbero
{"title":"Analgesic efficacy of clinical hypnosis in pediatric patients following orthopedic surgery","authors":"Raquel Torres-Luna , María Carmen Sellán Soto , Francisco Reinoso-Barbero","doi":"10.1016/j.anpede.2025.503831","DOIUrl":"10.1016/j.anpede.2025.503831","url":null,"abstract":"<div><h3>Introduction</h3><div>Clinical hypnosis is effective for pain management in adults, but there is little evidence of its use in the pediatric population.</div></div><div><h3>Materials and Methods</h3><div>We conducted a randomized clinical trial on pediatric patients (aged 7–19 years) that had undergone major orthopedic surgery, allocated to one of two groups: the experimental hypnosis group (HG), which received two sessions of clinical hypnosis, or the control group (CG), which had two non-hypnosis visits. The variables analyzed were pain (Visual Analog Scale [VAS]), use of analgesic drugs, anxiety (State-Trait Anxiety Inventory for Children [STAIC]), parasympathetic activation (Analgesia Nociception Index [ANI] monitor) and vital signs such as heart rate (HR), respiratory rate (RR) and systolic and diastolic blood pressure (SBP and DBP). We used the Student <em>t</em> test and the χ<sup>2</sup> test for the statistical analysis.</div></div><div><h3>Results</h3><div>Of the 24 patients in the sample, 16 were assigned to the HG and 8 to the CG. In the HG, we observed a significant reduction in VAS scores at 24 h (<em>P</em> = .0001) and 48 h (<em>P</em> = .0004) post surgery. Additionally, HG patients required fewer rescue doses of analgesic agents (<em>P</em> = .025) and had lower state-anxiety scale scores in the STAIC (<em>P</em> = .046). The ANI values increased significantly at 24 h (<em>P</em> = .0001) and 48 h (<em>P</em> = .007). The HR, SBP and DBP values decreased at 24 h (<em>P</em> < .05), and the RR at 24 and 48 h (<em>P</em> < .05).</div></div><div><h3>Conclusion</h3><div>Clinical hypnosis is an effective nonpharmacological intervention for reducing postoperative pain and anxiety in children, and it is associated with an increase in parasympathetic tone.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503831"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860636","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}
María López Blázquez , María Ángeles Espinosa Castro , Reyes Álvarez García-Rovés , Miriam Centeno Jiménez , Ana Isabel Fernández Ávila , Francisco Javier Bermejo Thomas , Constancio Medrano López
{"title":"Prognostic role of novel variables in sudden cardiac death risk associated to hypertrophic cardiomyopathy","authors":"María López Blázquez , María Ángeles Espinosa Castro , Reyes Álvarez García-Rovés , Miriam Centeno Jiménez , Ana Isabel Fernández Ávila , Francisco Javier Bermejo Thomas , Constancio Medrano López","doi":"10.1016/j.anpede.2025.503814","DOIUrl":"10.1016/j.anpede.2025.503814","url":null,"abstract":"<div><h3>Introduction</h3><div>Models for estimating the risk of sudden cardiac death (SCD) in pediatric hypertrophic cardiomyopathy (HCM) used in our setting do not consider some parameters of routine clinical practice. The objective was to identify non-classical risk factors and evaluate their prognostic value.</div></div><div><h3>Patients and methods</h3><div>Retrospective observational study, including patients with isolated HCM 0-18 years old, evaluating clinical, genetic, and imaging variables. The risk of SCD or major arrhythmic cardiac events (MACEs) was estimated according to the three most widely used European models (HCM Risk-SCD, European Society of Cardiology [ESC] algorithm, and HCM Risk-Kids), analyzing their predictive capacity by adding genotyping and advanced cardiac imaging parameters.</div></div><div><h3>Results</h3><div>The sample included 77 patients followed up for 5.25 years. Ten (13%) experienced a MACE. We found that MACE was significantly associated with myocardial deformation and positive genotype status, and associated, although not significantly, to late gadolinium enhancement (LGE) in cardiac MRI (<em>P</em> = .062). Events were more frequent (hazard ratio = 18.5; <em>P</em> = .006) and occurred earlier (<em>P</em> = .022) in association with variants in genes other than <em>MYBPC3</em>. The inclusion of “genotype other than <em>MYBPC3</em>” and “presence of LGE” improved the predictive capacity of the models for the high-risk (C-statistic 0.94 vs 0.84 with HCM Risk-SCD; 0.88 vs 0.74 with ESC algorithm; 0.90 vs 0.80 with HCM Risk-Kids) and intermediate-risk categories (C-statistic 0.88 vs 0.51 with HCM Risk-SCD; 0.85 vs 0.64 with ESC algorithm; 0.84 vs 0.51 with HCM Risk-Kids).</div></div><div><h3>Conclusions</h3><div>The predictive capacity of European risk models improves by incorporating the variables “genotype other than <em>MYBPC3</em>” and “presence of LGE”, although larger studies are required to validate their prognostic value.</div></div>","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503814"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860637","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}
Ignacio del Castillo Velilla , María Solsona Gadeaz , Edurne Sarrate Garcia , Aida Felipe Villalobos
{"title":"Craniofacial lession as a presentation of idiopathic purpura fulminans","authors":"Ignacio del Castillo Velilla , María Solsona Gadeaz , Edurne Sarrate Garcia , Aida Felipe Villalobos","doi":"10.1016/j.anpede.2025.503765","DOIUrl":"10.1016/j.anpede.2025.503765","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503765"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860640","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}
Marina Romero Bravo , José Antonio Llamas Carmona , Elisabeth Gómez Moyano , Juan María García-Hirschfeld
{"title":"Infantile digital fibromatosis: A clinical case report","authors":"Marina Romero Bravo , José Antonio Llamas Carmona , Elisabeth Gómez Moyano , Juan María García-Hirschfeld","doi":"10.1016/j.anpede.2025.503704","DOIUrl":"10.1016/j.anpede.2025.503704","url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503704"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756482","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}