Neurologia最新文献_第3页

Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain. 西班牙儿童杜氏肌营养不良患者的流行病学、临床管理、疾病负担和治疗的Delphy研究。

Neurologia Pub Date : 2026-03-28 DOI: 10.1016/j.nrleng.2026.502007

I Pitarch-Castellano, C I Ortez-González, A Nascimento-Osorio, P Aguilera López, M O Blanco Barca, A Camacho-Salas, O García-Campos, M C García-Jiménez, M García-Romero, D Gómez-Andrés, M A Grimalt-Calatayud, A Hernández-Fabián, I Málaga-Diéguez, M Madruga-Garrido, I Marti-Carrera, L Martín-Viota, M J Martínez-García, J M Ramos-Fernández, R Sánchez-Carpintero Abad, S Vázquez-Martín, A Giró-Perafita

{"title":"Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain.","authors":"I Pitarch-Castellano, C I Ortez-González, A Nascimento-Osorio, P Aguilera López, M O Blanco Barca, A Camacho-Salas, O García-Campos, M C García-Jiménez, M García-Romero, D Gómez-Andrés, M A Grimalt-Calatayud, A Hernández-Fabián, I Málaga-Diéguez, M Madruga-Garrido, I Marti-Carrera, L Martín-Viota, M J Martínez-García, J M Ramos-Fernández, R Sánchez-Carpintero Abad, S Vázquez-Martín, A Giró-Perafita","doi":"10.1016/j.nrleng.2026.502007","DOIUrl":"10.1016/j.nrleng.2026.502007","url":null,"abstract":"Introduction: Duchenne muscular dystrophy (DMD) is a rare hereditary disease caused by mutations in the DMD gene, leading to progressive muscle weakness and degeneration.Methods: Twenty paediatric neurologists with expertise in the management of DMD at Spanish centres participated in this 2-round Delphi study. The first survey was based on a literature review, and answers were analysed by descriptive statistics. The prevalence and incidence of DMD were estimated using the number of patients reported by experts and the population covered by hospitals, and later extrapolated to the male population in Spain.Results: An estimated 618 paediatric patients have been diagnosed with DMD in Spain. The age of diagnosis is around 3 (IQR 3-3.9) years and the age of initiation of glucocorticoid treatment is 5 (IQR 4-5) years. Loss of ambulation is estimated at 13 (IQR 12-13.5) years. Deflazacort is the most widely used treatment in Spain. The main adverse effects are growth delay, weight gain, bone metabolism problems, and Cushingoid appearance.Conclusion: The study reports updated data on the epidemiology and clinical management of DMD in Spain. It also highlights the importance of early diagnosis, multidisciplinary management and the need for a new therapy that improves the safety profile of traditional glucocorticoids to provide an improved quality of life for patients with DMD.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502007"},"PeriodicalIF":0.0,"publicationDate":"2026-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583295","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}

引用次数: 0

Semiological value of rhythmic ictal non-clonic hand (RINCH) motions in epileptic seizures. 癫痫发作中节律性初始非阵挛性手（RINCH）运动的符号学价值。

Neurologia Pub Date : 2026-03-28 DOI: 10.1016/j.nrleng.2026.502031

M Garcés-Pellejero, S López-Maza, I Pérez Vizuete, M Quintana, D Campos-Fernández, L Abraira, E Santamarina Pérez, I Casado-Naranjo, M Toledo, E Fonseca

{"title":"Semiological value of rhythmic ictal non-clonic hand (RINCH) motions in epileptic seizures.","authors":"M Garcés-Pellejero, S López-Maza, I Pérez Vizuete, M Quintana, D Campos-Fernández, L Abraira, E Santamarina Pérez, I Casado-Naranjo, M Toledo, E Fonseca","doi":"10.1016/j.nrleng.2026.502031","DOIUrl":"10.1016/j.nrleng.2026.502031","url":null,"abstract":"Objective: To study the semiological significance of rhythmic ictal non-clonic hand (RINCH) motions in epileptic seizures, as observed in prolonged video-EEG monitoring (VEM).Material and methods: Retrospective observational study of patients with epilepsy admitted for prolonged VEM between 2020 and 2024, who exhibited RINCH motions during recorded seizures. Electroclinical data were collected and analysed, focusing on the duration and associated semiology of RINCH motions.Results: Among 379 patients admitted for VEM, RINCH motions were observed in 12 (66.6% male, mean age [standard deviation], 44.7 [11.3] years). All patients were right-handed. Seizure onset occurred in the temporal lobe in 10 cases (83.3%) and left hemisphere in 11 (91.6%). Aetiology was structural in 9 patients (75%), unknown in 2 (6,7%), and autoimmune in 1 (8.3%). All seizures were associated with impaired awareness and automatisms. Ictal or postictal language impairment were observed in 9 patients (75%). Only one case progressed to bilateral tonic-clonic seizure. RINCH motions involved the right hand in all seizures, and in one case spread to the contralateral hand. These movements appeared within a median of 25 seconds (Q1-Q3, 12-90) after clinical onset, with a median duration of 19 seconds (Q1-Q3, 11-48). EEG onset occurred after clinical onset in 7 cases (58.3%), and was consistently observed over the left anterior temporal region, except for one case with a parietal origin.Conclusion: RINCH motions represent an uncommon but distinctive manifestation of epileptic seizures, often accompanied by impaired awareness, automatisms and aphasia. These movements typically occur in the hand contralateral to the seizure onset zone. The most frequent seizure onset localisation is the left temporal lobe (dominant) in right-handed patients.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502031"},"PeriodicalIF":0.0,"publicationDate":"2026-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583364","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}

引用次数: 0

Prehospital seizure management in the paediatric patient: A multicentre emergency department study. 儿科患者院前癫痫发作管理：一项多中心急诊科研究

Neurologia Pub Date : 2026-03-27 DOI: 10.1016/j.nrleng.2026.502004

C Guedes, A D Coutinho, R Rocha, C Melo

{"title":"Prehospital seizure management in the paediatric patient: A multicentre emergency department study.","authors":"C Guedes, A D Coutinho, R Rocha, C Melo","doi":"10.1016/j.nrleng.2026.502004","DOIUrl":"10.1016/j.nrleng.2026.502004","url":null,"abstract":"Introduction: Seizures are one of the main neurological reasons for admission to paediatric emergency departments (ED). The early, appropriate management of acute seizures is crucial to improving patient outcomes, with prehospital care playing a critical role in this matter.Methods: We conducted a retrospective cross-sectional study of patients under 18 years of age admitted due to seizures to a metropolitan paediatric ED during a period of one year (June 2023-May 2024). Prehospital management and its association with clinical progression were analysed.Results: A total of 697 emergency episodes of seizures were identified: 328 epileptic seizures (47.1%), 290 febrile seizures (41.6%), 47 convulsive status epilepticus (SE) (6.7%), and 32 febrile SE (4.6%). Patients were referred to the ED by the emergency medical services (EMS) in 73.5% of episodes (n = 512). A first dose of an antiseizure medication (ASM) was administered in the prehospital setting in 29.4% of episodes (n = 205), using a benzodiazepine in 99.5% (n = 204). Prehospital ASM administration was more frequent in patients attended by the EMS (P < .001). Prehospital protocol compliance was verified in 71.7% of episodes (n = 114). Patients attended by EMS had a higher likelihood of prehospital seizure control and hospital discharge after the episode (P < .05).Conclusions: Prehospital care was associated with higher prehospital seizure control and lower rates of hospitalisation. These findings emphasise the relevance of studying prehospital management, enabling the identification of opportunities for improvement, not only related to EMS procedures, but also to caregivers' knowledge about paediatric seizures.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502004"},"PeriodicalIF":0.0,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577364","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}

引用次数: 0

Six months of experience at a specialized daytime care center for people with amyotrophic lateral sclerosis (ALS) in the Community of Madrid. 在马德里社区的肌萎缩性侧索硬化症（ALS）患者的专门日间护理中心工作6个月。

Neurologia Pub Date : 2026-03-27 DOI: 10.1016/j.nrleng.2026.502006

F J Martín-Sánchez, M C Marcos Sastre, E Muñoz de Maya, B Sánchez-Pinto Pinto, Á Trueba Vicente, J Artero Ortiz, J Arribas Guerrero, N Soto Vargas, I M García Sánchez, J Marco Martínez

{"title":"Six months of experience at a specialized daytime care center for people with amyotrophic lateral sclerosis (ALS) in the Community of Madrid.","authors":"F J Martín-Sánchez, M C Marcos Sastre, E Muñoz de Maya, B Sánchez-Pinto Pinto, Á Trueba Vicente, J Artero Ortiz, J Arribas Guerrero, N Soto Vargas, I M García Sánchez, J Marco Martínez","doi":"10.1016/j.nrleng.2026.502006","DOIUrl":"10.1016/j.nrleng.2026.502006","url":null,"abstract":"Introduction: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons, leading to motor deterioration and a reduced quality of life. In the Community of Madrid, the ALS Network was established to improve patient care. In April 2024, the Specialised Day Care Centre for ALS (CEADELA) was inaugurated, complementing the care provided by the ALS Network. The aim of this study was to describe the experience of CEADELA during its first six months.Materials and methods: A retrospective descriptive study was conducted on a cohort of CEADELA patients between April and October 2024. Clinical, functional, and therapeutic data were analysed, along with overall satisfaction levels.Results: A total of 91 patients were included, with a mean age of 65.2 years (SD 11); of these, 59 (64.8%) were men. Most had spinal-onset ALS and were receiving treatment with riluzole. A significant increase was observed in the use of physiotherapy, speech therapy, and occupational therapy after referral to the centre. Functionality significantly declined over six months. The mortality rate was 12.1% (18.2% opted for assisted dying). Overall, 76 patients (83.5%) responded to the survey, with 100% reporting satisfaction or high satisfaction with the centre (80.2% very satisfied and 18.4% satisfied).Conclusions: CEADELA has improved access to specialised therapies with a high level of satisfaction, although disease progression remains a challenge. The need to continue developing integrated, evidence-based care models to optimise ALS management is highlighted.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502006"},"PeriodicalIF":0.0,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577341","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}

引用次数: 0

Mortality associated with takotsubo cardiomyopathy secondary to status epilepticus: a case report. 继发于癫痫持续状态的Takotsubo心肌病的死亡率：1例报告。

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.501932

Carmen Ribacoba Díaz, Pablo Mayo Rodríguez, Marina Lara González, Irene García Morales, Beatriz Parejo Carbonell

引用次数: 0

Neurolymphomatosis: description of 3 cases. 神经淋巴瘤：附3例报告

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.501930

E Martínez Campos, L Torné Hernández, C Bacaicoa Saralegui, I Jericó Pascual, M E Erro Aguirre

引用次数: 0

Is spinal angiography useful in the differential diagnosis of myelopathies of unknown origin? Analysis of a series of 93 patients. 脊髓血管造影对来历不明的脊髓病鉴别诊断有用吗？对93例患者的分析。

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.501942

G Parrilla, J Zamarro, B García-Villalba, J Diaz, G de Paco, M Espinosa

{"title":"Is spinal angiography useful in the differential diagnosis of myelopathies of unknown origin? Analysis of a series of 93 patients.","authors":"G Parrilla, J Zamarro, B García-Villalba, J Diaz, G de Paco, M Espinosa","doi":"10.1016/j.nrleng.2026.501942","DOIUrl":"10.1016/j.nrleng.2026.501942","url":null,"abstract":"Background: Myelopathies of unknown origin (MUO) constitute a challenge for the clinician, due to the absence of image findings that explain the symptoms of the patients. The role of spinal angiography (SA) in MUO has not been studied before in the medical literature.Methods: Retrospective study of 93 SA performed in a neurointerventional reference center in a ten-year period (January 2013-December 2022). Suspected, angiopraphic and final diagnosis for each patient were studied and compared.Results: SA constituted an 0.8% of the total neurointerventional procedures performed (93 out of 10997). Suspected diagnosis were: dural fistula 39 patients (41.9%), vertebral tumours 19 (20.4%), MUO 12 (12.9%), spinal arteriovenous malformation 9 (9.6%), spontaneous epidural hematoma 8 (8.6%), spinal stroke 2 (2.2%), angioma 2 (2.2%), cavernoma 1 (1.1%), y spinal artery aneurism 1 (1.1%). Angiographic diagnoses in patients with MUO were: no abnormal findings in 11 patients (91,7%) and one cervical dural fistula dural (8.3%). Final diagnosis in patients with MUO without abnormal findings in the SA were: spinal muscular atrophy, transverse myelitis, syringomyelia, sciatic neuropathy, chronic back pain, lumbosacral neuropathy, simulated paraplegia, lumbosacral plexopathy, somatoform disorder, autoinmune myelopathy and L4/L5 discal herniation.Conclusions: In this series of 93 patients, MUO were the third more frequent indication for SA, only after dural fistula and vertebral tumours. Other indications were spinal arteriovenous malformations, spinal epidural hematomas, cavernomas, spinal artery aneurism and spinal stroke. SA seems to be a useful tool in the management of some cases of MUO.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"501942"},"PeriodicalIF":0.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577172","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}

引用次数: 0

Impact of care by a multidisciplinary team on the assessment of cognitive aspects and decision-making at the end of life in a Spanish population with amyotrophic lateral sclerosis. 多学科团队对西班牙肌萎缩性侧索硬化症患者临终时认知方面和决策评估的影响。

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.501950

M I Chamorro-Muñoz, M N Afkir-Ortega, A Aguilar-Monge

{"title":"Impact of care by a multidisciplinary team on the assessment of cognitive aspects and decision-making at the end of life in a Spanish population with amyotrophic lateral sclerosis.","authors":"M I Chamorro-Muñoz, M N Afkir-Ortega, A Aguilar-Monge","doi":"10.1016/j.nrleng.2026.501950","DOIUrl":"10.1016/j.nrleng.2026.501950","url":null,"abstract":"Introduction: Amyotrophic lateral sclerosis (ALS) is a disease with a fatal course, often associated with unassessed cognitive-behavioural disturbances, and very relevant end-of-life care decisions. The aim of this study is to verify whether multidisciplinary team care for ALS patients in our setting has modified the cognitive assessment and the end-of-life decision making, compared to a model of uncoordinated specialist care.Methods: An observational, longitudinal, retrospective study was conducted on a cohort of patients with probable or definite ALS, in a referral hospital, between 1 January 2000 and 31 December 2022, differentiating whether they were treated before or after the implementation of a multidisciplinary model. We analysed the performance of cognitive assessment, the use of riluzole, gastrostomy, non-invasive ventilation and invasive ventilation, and the recording of patients' decisions regarding the care they wished to receive. Comparisons between variables were performed using the chi-square test or Fisher exact test.Results: We evaluated 47 patients seen by uncoordinated specialists and 146 with a multidisciplinary model. Patients cared for using the multidisciplinary model were more frequently cognitively assessed (55.48% vs 12.8%, P < .001), diagnosed with dementia (11.6% vs 2.3%, P < .048), and had their advance directives recorded (56.8% vs 23.4%, P < .001). We found no differences in the use of advanced interventions, except for invasive ventilation, which was only performed in the context of multidisciplinary care.Conclusions: The multidisciplinary model of care for ALS patients in our setting has improved cognitive assessment, promoted the registration of their advance directives, and thus helped to improve respect for their autonomous decisions and dignity.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"501950"},"PeriodicalIF":0.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577259","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}

引用次数: 0

Acute extensive leukoencephalopathy secondary to transdermal fentanyl and oral tapentadol intoxication: a case report. 经皮芬太尼和口服他他他多中毒继发急性广泛性脑白质病1例。

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.501945

M Massons, J L Núñez-Pizarro, J Zapatero, N Bargalló, C Gaig, E Muñoz

引用次数: 0

Prevalence and predictors of seizure cluster in emergency care: insights from a tertiary hospital in Bogotá, Colombia. 在紧急护理中癫痫集群的患病率和预测因素：来自哥伦比亚波哥大<e:1>一家三级医院的见解。

Neurologia Pub Date : 2026-03-26 DOI: 10.1016/j.nrleng.2026.502003

N Valencia-Enciso, A Velásquez, S Riveros, C Espinosa-Jovel

{"title":"Prevalence and predictors of seizure cluster in emergency care: insights from a tertiary hospital in Bogotá, Colombia.","authors":"N Valencia-Enciso, A Velásquez, S Riveros, C Espinosa-Jovel","doi":"10.1016/j.nrleng.2026.502003","DOIUrl":"10.1016/j.nrleng.2026.502003","url":null,"abstract":"Introduction: Seizure clusters (SC) constitute a prevalent condition with high risk of progression to status epilepticus, whose management requires a methodical approach. This study aimed to determine the clinical and sociodemographic profile, course, and outcomes of patients with SC.Methods: An analysis was conducted of the subgroup of patients with SC and isolated epileptic seizures (IES) included in the institutional \"seizure code\" protocol. Baseline characteristics were described and analyses were conducted to identify potential predictors of the condition and compare hospital outcomes between groups.Results: A total of 485 patients were included in the \"seizure code\" protocol from 23 March to 20 August 2023, of whom 21.2% (n = 103) presented SC and 60.8% (n = 295) IES. A total of 75.7% of patients with SC had history of epilepsy. Younger patients (P = .028), patients with history of epilepsy (P = .0014), and those taking ≥ 3 antiseizure medications (P = .046) have an increased risk of presenting SC. Poor treatment adherence was the most common etiology. Patients with SC had longer hospital stays than those with IES (37.9 vs 26.8 h; P = .005). However, we did not find statistically significant differences in the prevalence of complications, admissions to the intensive care unit, or in-hospital seizure recurrence.Conclusions: SC are common in emergency departments, with a prevalence of 21.2% in this study. They most frequently affect younger patients, individuals with history of epilepsy, and those receiving ≥ 3 antiseizure medications. In this context, the main etiology was poor treatment adherence.","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502003"},"PeriodicalIF":0.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577329","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}

引用次数: 0