Revista de neurologia最新文献_第2页

[Vowel articulation and intelligibility of speech in Spanish speakers with Parkinson's disease treated with deep brain stimulation of the subthalamic nucleus]. [对患有帕金森病的西班牙语患者进行眼下核深部脑刺激治疗后的元音发音和语音可懂度]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-29 DOI: 10.33588/rn.7905.2024108

N Castillo-Triana, M Camargo-Mendoza

{"title":"[Vowel articulation and intelligibility of speech in Spanish speakers with Parkinson's disease treated with deep brain stimulation of the subthalamic nucleus].","authors":"N Castillo-Triana, M Camargo-Mendoza","doi":"10.33588/rn.7905.2024108","DOIUrl":"10.33588/rn.7905.2024108","url":null,"abstract":"Introduction: Parkinson's disease (PD) can affect the intelligibility of speech. Although studies of vowel production are useful for measuring this impairment, they do not exist in Spanish speakers with the disease who have been treated with subthalamic nucleus deep brain stimulation (STN-DBS). STN-DBS is an effective treatment for the classic signs of PD, but with varied effects on speech.Patients and methods: Data from two individuals with PD treated with STN-DBS were studied: one (P1) had impairment and the other (P2) had stable speech intelligibility after STN-DBS implantation. The triangular vowel space area (tVSA) and the vowel articulation index (VAI) were measured and compared before the implantation surgery, and at three, six and nine months after surgery. These measurements were compared with measurements of speech intelligibility (percentage of words correctly identified and degree of intelligibility).Results: Both participants presented variations in measurements of vowel articulation after surgery. In P1, the reduction in the tVSA, but not the post-surgical change in the VAI, was consistent with reduced speech intelligibility. However, in P2, both measurements (tVSA and VAI) reflected stable speech intelligibility after surgery.Conclusions: Reduced speech intelligibility in Spanish speakers with PD after STN-DBS implantation may be reflected in a reduced tVSA.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142111483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [一系列哥伦比亚患者遗传性远端肌病的临床和遗传特征]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-29 DOI: 10.33588/rn.7905.2024230

N Oliveros-Acuña, N Tafur-Gómez, F Ortiz-Corredor, S Castellar-Leones, W Rojas-García, C Correa-Arrieta

{"title":"[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].","authors":"N Oliveros-Acuña, N Tafur-Gómez, F Ortiz-Corredor, S Castellar-Leones, W Rojas-García, C Correa-Arrieta","doi":"10.33588/rn.7905.2024230","DOIUrl":"10.33588/rn.7905.2024230","url":null,"abstract":"Introduction: Hereditary distal myopathies represent a heterogeneous group of rare genetic disorders characterized by progressive distal muscle weakness.Aim: The objective of this study was to describe the clinical spectrum and genetic findings in a series of patients with distal myopathy from Colombia.Patients and methods: A retrospective review of the medical records of 12 patients with distal myopathy seen at a neuromuscular center in Bogota, Colombia, between 2015 and 2023 was performed. Clinical data, family history, diagnostic studies and genetic test results were obtained.Results: The mean age of onset was 15.7 years. Patterns of limb weakness included distal involvement in the upper and lower extremities (50%), distal involvement in the lower extremities in isolation (33.3%), and proximal and distal involvement in the upper and lower extremities (8.3%). Additional weakness was observed in the face (8.3%) and paraspinal muscles (25.0%). Creatine kinase levels were elevated in 58.3% of cases. Electromyography revealed a myopathic pattern in 91.6% of cases. Variants identified included MYH7, ANO5, TTN, HNRNPA1, DES, DYSF and CAV3 genes.Conclusion: This case series describes the clinical and genetic spectrum of inherited distal myopathies in Colombia. Findings demonstrate phenotypic and genotypic heterogeneity, with variants in genes encoding structural proteins. There is a need to expand access to genetic testing in Latin America to enable more accurate comprehensive diagnosis and treatment.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142111480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dysarthria-clumsy hand syndrome and multiple sequential acute limb embolisms as a form of presentation of aortic arch embolism. 主动脉弓栓塞的一种表现形式--肢体瘫痪-手部笨拙综合征和多发性连续急性肢体栓塞。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-16 DOI: 10.33588/rn.7906.2024203

J F García-Granado, A Galindo-Cordero, S Hernández-Pérez, M P Pérez-García, P Pérez-Hernández, S de Varona-Frolov, G Volo-Pérez, A N González-Hernández

引用次数: 0

[Withdrawal and reintroduction of pharmacological treatment of epilepsy in paediatric patients. Our experience]. [我们的经验]。我们的经验]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-16 DOI: 10.33588/rn.7906.2024268

P Morte-Coscolín, C Gómez-Sánchez, J López-Pisón, M V Fariña-Jara, F F Martínez-Calvo, R Fernando-Martínez

{"title":"[Withdrawal and reintroduction of pharmacological treatment of epilepsy in paediatric patients. Our experience].","authors":"P Morte-Coscolín, C Gómez-Sánchez, J López-Pisón, M V Fariña-Jara, F F Martínez-Calvo, R Fernando-Martínez","doi":"10.33588/rn.7906.2024268","DOIUrl":"10.33588/rn.7906.2024268","url":null,"abstract":"Introduction: There are many variables to be considered in the withdrawal of treatment for epileptic seizures, which requires a risk-benefit assessment.Patients and methods: A retrospective study of patients in a neuropaediatric practice who required the reintroduction of treatment for epilepsy after its initial withdrawal, and who continue to receive anti-seizure drugs.Results: Twenty-three of 57 children whose treatment was withdrawn are currently being administered the treatment as a monotherapy. Attempts at withdrawal were made with 17 patients, with a mean seizure-free period of 26 months; range: 8-47 months (excluding one patient who never stopped presenting seizures). Mean age at the time of the last known data: 16 years; range: 7-28 years. Average time until the first seizure after withdrawal: 12 months; range: 1-82 months. Seizures persist despite the current treatment administered in eight cases. Two or three attempts to withdraw treatment were made in six patients, with a mean seizure-free period of 28.6 months; range: 22-48 months. Mean age at the time of the last known data: 18.68 years; range: 13-37 years. Average time until the first seizure after withdrawal: 8.2 months; range: 1-30 months. They presented seizures after treatment four was reintroduced. 52% of the patients presented seizures while receiving the drug, which was discontinued. The treatment was withdrawn in cases meeting criteria for persistent seizures: three refractory epilepsies, five symptomatic focal epilepsies, four cases with intellectual disability, five adolescent-onset epilepsies, and failures in previous withdrawal in 23 cases and 30 attempts.Conclusion: The decision to withdraw treatment must be personalised, and consider the risk of relapse, taking into account efficacy and tolerability, and behaviour and neurodevelopment in particular.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Advances and guidance in the treatment of drug-resistant epilepsy: a review by the Andalusian Epilepsy Society of the new drugs cenobamate, fenfluramine and cannabidiol]. [耐药性癫痫治疗的进展与指导：安达卢西亚癫痫协会对新药仙诺巴马特、芬氟拉明和大麻二酚的审查]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-16 DOI: 10.33588/rn.7906.2024086

C Arenas-Cabrera, P Cabezudo-García, R Calvo-Medina, B Galeano-Bilbao, P Martínez-Agredano, J Ruiz-Giménez, J J Rodríguez-Uranga, P Quiroga-Subirana

{"title":"[Advances and guidance in the treatment of drug-resistant epilepsy: a review by the Andalusian Epilepsy Society of the new drugs cenobamate, fenfluramine and cannabidiol].","authors":"C Arenas-Cabrera, P Cabezudo-García, R Calvo-Medina, B Galeano-Bilbao, P Martínez-Agredano, J Ruiz-Giménez, J J Rodríguez-Uranga, P Quiroga-Subirana","doi":"10.33588/rn.7906.2024086","DOIUrl":"10.33588/rn.7906.2024086","url":null,"abstract":"This review, conducted by the Andalusian Epilepsy Society, provides an update on recent advances in the treatment of drug-resistant epilepsy, focusing on three new anti-seizure drugs: cenobamate, fenfluramine and cannabidiol. These emerging drugs offer new therapeutic alternatives for patients with drug-resistant focal epilepsy, Dravet syndrome, and Lennox-Gastaut syndrome. The primary objective of this review is to provide healthcare professionals with an up-to-date overview of the efficacy, safety and potential clinical applications of these treatments, backed by the latest evidence. In addition to reviewing the available clinical evidence, the document addresses essential practical considerations for the implementation of these drugs in routine clinical practice, including aspects such as their dosage, drug interactions, and management of their side-effects. With this review, the Andalusian Epilepsy Society aims to contribute to improving the care for and quality of life of patients with drug-resistant epilepsy and their families.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Management of migraine by hospital emergency departments: a retrospective observational study carried out at the Hospital Universitario Virgen del Rocio]. [医院急诊科对偏头痛的管理：罗西奥圣女大学医院开展的一项回顾性观察研究]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-09-16 DOI: 10.33588/rn.7906.2024095

N Sánchez-Rodríguez, M Millán-Vázquez, A Fernández-Panadero, A E Gómez-Caminero, C González-Oria

{"title":"[Management of migraine by hospital emergency departments: a retrospective observational study carried out at the Hospital Universitario Virgen del Rocio].","authors":"N Sánchez-Rodríguez, M Millán-Vázquez, A Fernández-Panadero, A E Gómez-Caminero, C González-Oria","doi":"10.33588/rn.7906.2024095","DOIUrl":"10.33588/rn.7906.2024095","url":null,"abstract":"Introduction: Migraine is the second most common type of primary headache disorder in Europe, accounting for 2.8% of visits to emergency departments. Some studies have shown that emergency departments may approach the disorder in ways that may be insufficient or inadequate.Materials and methods: A retrospective observational study was conducted of patients with migraine who were discharged from the adult emergency department of the Hospital Universitario Virgen del Rocio in 2020. Variables related to their healthcare were analysed.Results: 73.9% were women, with a mean age of 38 years. They were not asked about the frequency of their migraines. The mean length of time patients spent in the emergency department before receiving initial medical care was 45 minutes (standard deviation: 41). Computed tomography scans were requested for 27.4% of the patients, and these were not pathological. Nonsteroidal anti-inflammatory drugs were the most commonly used treatment for the symptoms. Opioids were also used. Preventive treatments were prescribed in 6% of cases.Conclusions: Management of migraines by emergency departments is limited, and as such continuous and updated training is important. The use of triptans and occipital nerve blocks should be encouraged, and the use of opioids, among other drugs, should cease.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Neurovascular pathology in a patient with neurofibromatosis type 1. Case report]. [神经纤维瘤病 1 型患者的神经血管病理学。病例报告]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-08-16 DOI: 10.33588/rn.7904.2024172

M Simal-Antuña, C Fernández-Fernández, D Larrosa-Campo

{"title":"[Neurovascular pathology in a patient with neurofibromatosis type 1. Case report].","authors":"M Simal-Antuña, C Fernández-Fernández, D Larrosa-Campo","doi":"10.33588/rn.7904.2024172","DOIUrl":"10.33588/rn.7904.2024172","url":null,"abstract":"Introduction: Neurovascular involvement in patients with neurofibromatosis type 1 (NF1) presents with a wide spectrum of manifestations. Its frequency is low, albeit probably underestimated. There is currently no known specific treatment, and treatment is based on recommendations with limited evidence. This report describes a case of vascular dysplasia in a patient with NF1.Case report: A 67-year-old woman with a genetic diagnosis of NF1 and a history of multiple exeresis of neurofibromas in the left cervical region. The patient presented with a painful flare-up and swelling in the region. A cervical magnetic resonance imaging was performed, which showed signs of plexiform neurinoma growth and a lesion suggestive of aneurysm in the left cervical internal carotid artery. A subsequent computed tomographic angiography confirmed the presence of a thrombosed aneurysm with associated critical stenosis, and identified three additional aneurysms in the proximal left vertebral artery. Given the asymptomatic presentation and adequate haemodynamic compensation, the patient was prescribed a conservative treatment and clinicoradiological follow-up.Conclusions: Neurovascular alterations associated with NF1 are infrequent, and the optimal treatment for them is unknown. Studies to define its true prevalence, determine its pathophysiological substrate and estimate the risk of cerebrovascular complications more precisely are needed. This could provide more robust recommendations for the population of NF1 patients, especially in asymptomatic cases.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141793284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Spinal cord stimulation in refractory complex regional pain syndrome. A prospective study]. [脊髓刺激治疗难治性复杂区域疼痛综合征。前瞻性研究]。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-08-16 DOI: 10.33588/rn.7904.2024087

D Suárez-Villanueva, N Cordero-Tous, C Paul-Ríos, C Sánchez-Corral, I M Ortiz-García, M Jouma-Katati, R Gálvez-Mateos, G Olivares-Granados

{"title":"[Spinal cord stimulation in refractory complex regional pain syndrome. A prospective study].","authors":"D Suárez-Villanueva, N Cordero-Tous, C Paul-Ríos, C Sánchez-Corral, I M Ortiz-García, M Jouma-Katati, R Gálvez-Mateos, G Olivares-Granados","doi":"10.33588/rn.7904.2024087","DOIUrl":"10.33588/rn.7904.2024087","url":null,"abstract":"Introduction and aims: The objective of treatment of complex regional pain syndrome is to relieve pain and restore function in the affected limb. The aim of this study is to evaluate spinal cord stimulation as a therapy for patients diagnosed with complex regional pain syndrome, for whom adequate pain control could not be achieved with other previous treatments.Patients and methods: A prospective study was conducted from 2018 to 2020. We included patients diagnosed with complex regional pain syndrome refractory to other treatments or techniques, classified by demographic data. Efficacy, functionality and opioid dependence in each patient were subsequently monitored for one year.Results: Seven of the 13 patients (53.84%) included in the study achieved significant pain relief with spinal cord stimulation. Improvements in pain and functionality were obtained, and both were statistically significant (p < 0.001 and p = 0.003, respectively). Improvement in the Oswestry Disability Index/Neck Disability Index (ODI/NDI) was significantly associated with body mass index (BMI) (p = 0.011) and was lower as BMI increased.Conclusions: The results suggest that spinal cord stimulation is an effective therapeutic option for patients with CRPS refractory to other treatments. BMI and ODI/NDI also showed a significant correlation.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141793285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epilepsy and musical perception. A perspective involving 14 patients. 癫痫与音乐感知。14名患者的视角

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-08-16 DOI: 10.33588/rn.7904.2024175

A Fernández-Cabrera, P Santamaría-Montero, J García-de Soto, E Ortegón-Aguilar, R Pego-Reigosa, F J López-González, X Rodríguez-Osorio

{"title":"Epilepsy and musical perception. A perspective involving 14 patients.","authors":"A Fernández-Cabrera, P Santamaría-Montero, J García-de Soto, E Ortegón-Aguilar, R Pego-Reigosa, F J López-González, X Rodríguez-Osorio","doi":"10.33588/rn.7904.2024175","DOIUrl":"10.33588/rn.7904.2024175","url":null,"abstract":"Introduction: The relationship between epilepsy and music is poorly understood. Musicogenic epilepsy, which involves seizures triggered by music, and epilepsy that triggers or involves musical experiences are rare. Anti-seizure medications (ASMs) may affect cognition and possibly the musical sphere. The relationship between epilepsy, ASMs and music perception is insufficiently investigated in the literature. This study describes the clinical characteristics of patients with epilepsy with advanced musical knowledge, and aims to understand the disease's involvement in the musical sphere.Patients and methods: A qualitative study was conducted in epileptic patients with musical knowledge, investigating their musical perception before and after a diagnosis of epilepsy and after a change of ASM when this was possible. Questionnaires and recordings of music were used to assess musical perception.Results: Fourteen patients had musical knowledge, and the majority of these (50%) had temporal lobe epilepsy. A total of 92.8% of the patients stated that epilepsy or its medications had affected them in the musical sphere. There was no clear relationship between the lateralisation of the epilepsy and musical involvement. 42.9% were professional musicians, and had to give up their profession. The patients prescribed with more than one ASM had greater musical involvement.Conclusions: Temporal lobe epilepsy appears to have the greatest effect on music perception, and more studies with ASM and music perception are needed to determine its effects.","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141793286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Self-prediction of performance to detect changes of impaired self-awareness during neurorehabilitation. 自我预测表现，检测神经康复过程中自我意识受损的变化。

IF 0.8 4区医学

Revista de neurologia Pub Date : 2024-08-16 DOI: 10.33588/rn.7904.2024041

A García-Molina, G P Prigatano

引用次数: 0