Anales de pediatria最新文献_第8页

From publication to action for early detection, surveillance and intervention in cerebral palsy in Spain—Who, how and now 从出版物到西班牙脑瘫早期发现、监测和干预的行动——世卫组织、如何以及现在。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503715

Álvaro Hidalgo-Robles , Javier Merino-Andrés , María del Mar Batista-Guerra , Cristina Herráiz-Perea

引用次数: 0

Kidney manifestations of COL4A1 mutations: a report of three cases COL4A1突变的肾脏表现：3例系列。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2024.503740

Ana Roche-Gomez, Lidia Niño Díaz, Cristina Julia Blázquez Gómez, Mar Espino Hernández

引用次数: 0

Key differential diagnosis in midline injuries 中线损伤的关键鉴别诊断。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503703

Isabel Gordo Baztán , María Erroz Ferrer , Miren Oscoz Lizarbe , Nerea Gorria Redondo

引用次数: 0

Rethinking value in science: Moving beyond the stigma of artificial intelligence in academic communication 重新思考科学中的价值：在学术交流中超越人工智能的耻辱。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503696

Carlos González Morcillo

引用次数: 0

From publication to action for early detection, surveillance and intervention in cerebral palsy in Spain - who, how and now. Authors reply 从出版物到西班牙脑瘫早期发现、监测和干预的行动——谁、如何和现在。作者回复。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503734

Miriam Martínez-Biarge , Montesclaros Hortigüela , David Conejo , Juan Arnaez

引用次数: 0

Noninvasive ventilation for stabilization of patients with acute bronchiolitis during interhospital transport 无创通气在医院间转运急性细支气管炎患者中的稳定作用。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503744

Santiago Rodríguez-Tubío Dapena , Miriam Morey-Olivé , María Romero-Carmona , Laia Reixach-Asperó , Montserrat Pujol-Jover

{"title":"Noninvasive ventilation for stabilization of patients with acute bronchiolitis during interhospital transport","authors":"Santiago Rodríguez-Tubío Dapena , Miriam Morey-Olivé , María Romero-Carmona , Laia Reixach-Asperó , 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 40min (IQR: 33.3–47) compared to initiation by the PTT group, with a median of 47min (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}

引用次数: 0

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes 11- β -羟化酶缺乏所致先天性肾上腺增生：临床、生化和分子特征及长期预后。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503747

Elida Mercado Santis , Ariadna Campos , Paula Fernández , Josep Oriola , Diego Yeste , Víctor Pérez , María Clemente

{"title":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes","authors":"Elida Mercado Santis , Ariadna Campos , Paula Fernández , Josep Oriola , Diego Yeste , Víctor Pérez , 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 > A, c.710 T > 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}

引用次数: 0

Neuromonitoring and follow-up in patients with congenital heart disease in Spain 西班牙先天性心脏病患者的神经监测和随访

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503739

Alexandra Belfi , Laia Vega , Marta Aguar , María Carmen Bravo , Débora Cañizo , Laura Díaz Rueda , Marta Camprubí-Camprubí

{"title":"Neuromonitoring and follow-up in patients with congenital heart disease in Spain","authors":"Alexandra Belfi , Laia Vega , Marta Aguar , María Carmen Bravo , Débora Cañizo , Laura Díaz Rueda , 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}

引用次数: 0

Fatal gastric perforation caused by Chlostridium ventriculi. A rare presentation of abdominal pain 由心室绿藻引起的致死性胃穿孔。罕见的腹痛。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2024.503741

Felipe Stacey , Pablo Moreno Santabarbara , Andrea Feu Llauradó , Javier Rodríguez-Fanjul

引用次数: 0

Budd-Chiari syndrome secondary to diaphragmatic hernia 膈疝继发的Budd-Chiari综合征。

Anales de pediatria Pub Date : 2025-02-01 DOI: 10.1016/j.anpede.2025.503702

Antonio Palacios Prados, Laura Almendro García, Alexander Siles Hinojosa, Sara Hernández del Arco

引用次数: 0