Neurologia最新文献_第2页

Características clínicas del dolor de miembro fantasma en pacientes con amputación de miembro inferior en una población española

IF 2.9 4区医学

Neurologia Pub Date : 2025-02-19 DOI: 10.1016/j.nrl.2023.06.013

M. Rubiera Valdés , O. Gutiérrez Remis , A. González Jáimez , C. Manzaneque Rodríguez , V. Chiminazzo , G. Morís

{"title":"Características clínicas del dolor de miembro fantasma en pacientes con amputación de miembro inferior en una población española","authors":"M. Rubiera Valdés , O. Gutiérrez Remis , A. González Jáimez , C. Manzaneque Rodríguez , V. Chiminazzo , G. Morís","doi":"10.1016/j.nrl.2023.06.013","DOIUrl":"10.1016/j.nrl.2023.06.013","url":null,"abstract":"<div><h3>Introduction</h3><div>The aim of this research is to present the clinical characteristics of Phantom Limb Pain (PLP) in patients with amputation.</div></div><div><h3>Material</h3><div>A retrospective cross-sectional observational study of patients with lower limb amputation is presented. Patients between 18 and 80 years of age with unilateral or bilateral amputation between the years 2015 and 2019 were included. Demographic data, medical history, data related to the amputation, and related abnormal sensations were collected.</div></div><div><h3>Results</h3><div>43 patients (34 men) and 53 amputees were studied, with a mean age of 62 years, with a time elapsed since amputation of 28 months. The most frequent cause of amputation was ischemic (70%). Twenty-three (60%) patients had PLP that began 1 month after amputation with a mean intensity of 3.9 on the VAS scale, in 15 patients the PLP was daily, three patients recognized the disappearance of PLP. 91% of the patients presented non-painful sensations in relation to the phantom limb. No differences were found in the development of the PLP between the 1st and 2nd amputation. A significant association was found between the development of PLP and residual limb pain.</div></div><div><h3>Conclusions</h3><div>PLP is a prevalent pathology among amputee patients, therefore multidisciplinary care with an active neurologic participation is essential. Studies are needed to deepen the knowledge of the factors that favour the development of PLP in order to focus early and targeted therapies to prevent the appearance of PLP.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 279-289"},"PeriodicalIF":2.9,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680825","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

A phase 2, double-blind, placebo-controlled trial of a valproate/lithium combination in ALS patients

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.07.003

M.-C. Boll , M. Alcaraz-Zubeldia , C. Rios , D. González-Esquivel , S. Montes

{"title":"A phase 2, double-blind, placebo-controlled trial of a valproate/lithium combination in ALS patients","authors":"M.-C. Boll , M. Alcaraz-Zubeldia , C. Rios , D. González-Esquivel , S. Montes","doi":"10.1016/j.nrl.2022.07.003","DOIUrl":"10.1016/j.nrl.2022.07.003","url":null,"abstract":"<div><h3>Background</h3><div>Few treatments are currently available for amyotrophic lateral sclerosis (ALS). A combination of lithium carbonate and valproic acid (VPA-Li) was shown to inhibit motor neuron death and delay disease progression.</div></div><div><h3>Methods</h3><div>Outpatients with a typical ALS presentation were enrolled in a randomized, placebo-controlled trial to assess the efficacy of orally administered VPA-Li. Changes in a functional scale score (ALSFRS-R) and survival rate were chosen as primary outcome variables. Secondary outcome variables included BMI, respiratory monitoring, quality of life, and a global impression of the treatment.</div></div><div><h3>Results</h3><div>Out of 42 patients enrolled, 20 individuals receiving VPA-Li and 18 on placebo treatment were included in the final analysis. Forty-five percent of patients receiving VPA-Li completed the trial, whereas only 22.22% of patients in the placebo group attended the final visit 18 months later (<em>P</em> = 0.09). Major changes in the ALSFRS-R score were observed, including a decrease of 1.195 points/month in the placebo group (95% CI: 0.7869–1.6031) and of 0.5085 under VPA-Li treatment (95% CI: 0.2288–0.7882) between months 6 and 14. Adverse events included bad mouth taste, constipation, and anorexia. Survival rate, body weight, and quality of life were positive outcomes by the end of the trial despite a high sample reduction, especially in the placebo group. The inclusion of 212 subjects in each group would confirm these differences.</div></div><div><h3>Conclusions</h3><div>Combined VPA-Li treatment associated with slower ALS progression and better secondary outcomes. This dual treatment overcame the futility threshold and merits further investigation in ALS.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 32-40"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171400","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

Escala Barcelona para la apraxia bucofonatoria: instrumento de evaluación cuantitativo

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.09.003

N. Montagut , S. Borrego-Écija , J. Herrero , A. Lladó , M. Balasa , E. Muñoz , F. Valldeoriola , R. Sánchez-Valle

{"title":"Escala Barcelona para la apraxia bucofonatoria: instrumento de evaluación cuantitativo","authors":"N. Montagut , S. Borrego-Écija , J. Herrero , A. Lladó , M. Balasa , E. Muñoz , F. Valldeoriola , R. Sánchez-Valle","doi":"10.1016/j.nrl.2022.09.003","DOIUrl":"10.1016/j.nrl.2022.09.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of Primary Progressive Aphasia (nfvPPA) and other neurodegenerative diseases that occur with speech and/or language problems.</div></div><div><h3>Methods</h3><div>The scale was designed based on useful elements in the assessment of buccophonatory apraxia and the total was quantified in seconds. The scale was administered to 64 participants with diagnoses of: nfvPPA, semantic variant of Primary Progressive Aphasia (svPPA), logopenic variant of Primary Progressive Aphasia (lvPPA), Huntington's disease, Parkinson's disease, as well as a group of healthy controls.</div></div><div><h3>Results</h3><div>Patients showed a significantly higher score compared to controls. The group nfvPPA had the highest mean score on the scale (429seconds±278). The scale was useful to differentiate vnfPPA from svPPA and Parkinson's disease (area under curve [AUC] of 0.956 and 0.989 respectively), but less to differentiate it from Huntington's disease (AUC=0.67) and lvPPA. There was a statistically significant relationship between total score and disease severity in nfvPPA (p<0.029).</div></div><div><h3>Conclusions</h3><div>The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 48-56"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44127333","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

Malestar psicológico en portadores y no portadores de la mutación causante de enfermedad de Huntington y su relación con la carga de la enfermedad 亨廷顿氏症突变携带者和非携带者的心理不适及其与疾病负担的关系

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.06.007

Y. Rodríguez-Agudelo , M. Chávez-Oliveros , A. Ochoa-Morales , L. Martínez-Ruano , A. Camacho-Molina , F. Paz-Rodríguez

{"title":"Malestar psicológico en portadores y no portadores de la mutación causante de enfermedad de Huntington y su relación con la carga de la enfermedad","authors":"Y. Rodríguez-Agudelo , M. Chávez-Oliveros , A. Ochoa-Morales , L. Martínez-Ruano , A. Camacho-Molina , F. Paz-Rodríguez","doi":"10.1016/j.nrl.2022.06.007","DOIUrl":"10.1016/j.nrl.2022.06.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Huntington's disease (HD) is a neurodegenerative and hereditary disorder, due to the predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. Several studies have reported an increase in psychiatric symptoms in carriers of the HD gene without motor symptoms.</div></div><div><h3>Objective</h3><div>To identify psychological distress in carriers of the mutation that causes HD, without motor symptoms, utilizing the Symptom Checklist 90 (SCL-90), and to correlate with the burden and proximity of the disease.</div></div><div><h3>Method</h3><div>A sample of 175 participants in a HD Predictive Diagnostic Program (PDP-HD) was divided into HEP carriers (39.4%) and NPEH non-carriers (61.6%) of the HD-causing mutation. By means of mathematical formulas, the disease burden and proximity to the manifest stage in the PEH group were obtained and it was correlated with the results of the SCL-90-R.</div></div><div><h3>Results</h3><div>Comparing the results obtained in the SCL-90-R of the PEH and NPEH, the difference is observed in the positive somatic male index, where the PEH obtains higher average scores. The correlations between disease burden and psychological distress occur in the domains; obsessions and compulsions, interpersonal sensitivity, hostility, global severity index and positive somatic distress index. A low correlation is observed between the burden of disease and the scores obtained in psychological discomfort.</div></div><div><h3>Conclusions</h3><div>In general, we found that the PEH group obtained a higher score in the dimensions evaluated with the SCL-90-R, showing a relationship with the burden and differences due to the proximity of the disease. Higher scores on the SCL-90-R dimensions in carriers of the HD gene may suggest an early finding of psychological symptoms in the disease.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 1-9"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49288507","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

Guía: Neurorrehabilitación en pacientes en estados alterados de la consciencia. Recomendaciones de la Sociedad Española de Neurorrehabilitación

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2024.08.003

E. Noé , M.D. Navarro , B. Moliner , M. O’Valle , J. Olaya , A. Maza , R. Llorens , J. Ferri , R. Rodríguez , T. Pérez , M. Bernabéu , C. Colomer , A. Gómez , C. González , A. Juárez-Belaúnde , C. López , S. Laxe , R. Pelayo , M. Ríos , I. Quemada , I. Quemada

{"title":"Guía: Neurorrehabilitación en pacientes en estados alterados de la consciencia. Recomendaciones de la Sociedad Española de Neurorrehabilitación","authors":"E. Noé , M.D. Navarro , B. Moliner , M. O’Valle , J. Olaya , A. Maza , R. Llorens , J. Ferri , R. Rodríguez , T. Pérez , M. Bernabéu , C. Colomer , A. Gómez , C. González , A. Juárez-Belaúnde , C. López , S. Laxe , R. Pelayo , M. Ríos , I. Quemada , I. Quemada","doi":"10.1016/j.nrl.2024.08.003","DOIUrl":"10.1016/j.nrl.2024.08.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Clinical practice guidelines in neurorehabilitation for adults with disorders of consciousness by the Spanish Neurorehabilitation Society. This document is based on a review of international clinical practice guidelines published between 2015 and 2022.</div></div><div><h3>Method</h3><div>A total of seven articles, corresponding to five clinical practice guidelines published between 2015 and 2022, were selected by the group of authors from a pool of 48 bibliographic references extracted from various databases in accordance with predefined search criteria. Following this review, 40 recommendations were formulated and subjected to evaluation by an expert committee using a 9-point Likert scale: 1-3 (inappropriate recommendation), 4-6 (uncertain recommendation), and 7-9 (appropriate recommendation), following the methodology of the Modified Nominal Group Technique. Any recommendation endorsed by at least 75% of the experts as «appropriate» (with a score of 7-9) was considered accepted.</div></div><div><h3>Conclusions</h3><div>This document presents 40 recommendations categorized according to the level of evidence provided by the reviewed studies. These recommendations represent a consensus among experts and pertain to various aspects related to: (1)clinical assessment; (2)complementary diagnostic tests; (3)prognosis, and (4)treatment in this specific population.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 92-117"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171396","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

The prevalence of sexual dysfunction and erectile dysfunction in men with multiple sclerosis: A systematic review and meta-analysis

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.07.002

V. Shaygannejad , O. Mirmosayyeb , S. Vaheb , N. Nehzat , M. Ghajarzadeh

引用次数: 0

Composición del trombo e implicaciones en la caracterización y el tratamiento en el ictus isquémico 血栓成分及其对缺血性中风的特征描述和治疗的影响

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.11.007

J. Marta-Enguita , F.J.D. Machado , J. Orbe , R. Muñoz

{"title":"Composición del trombo e implicaciones en la caracterización y el tratamiento en el ictus isquémico","authors":"J. Marta-Enguita , F.J.D. Machado , J. Orbe , R. Muñoz","doi":"10.1016/j.nrl.2022.11.007","DOIUrl":"10.1016/j.nrl.2022.11.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Since mechanical thrombectomy has allowed ischemic stroke thrombi retrieval, its exhaustive study has involved a better knowledge of physiopathological processes implied in its formation.</div></div><div><h3>Development</h3><div>Thrombotic pathways involved in the different vascular beds shared common mechanisms conditioning difficulties in the identification of specific patterns associated with stroke etiology. Other factors as clot formation time, associated inflammatory status or activation of additional immune and coagulation pathways (Neutrophil extracellular traps [NETs] delivery, platelet aggregation, endothelial activation and Von Willebrand Factor release) have been described as determinants in thrombus characteristics. In consequence, variable proportions of fibrin/platelet-rich and erythrocyte-rich areas coexist among the thrombus with a close relation within them, accompanied frequently by a protective outer shell with high concentrations of fibrin, NETs and Von Willebrand Factor. The presence of these components, as well as its distribution and interrelationships have demonstrated to have effect on thrombus resistance to revascularization treatments. An adequate knowledge of this pathways has allowed to develop adjuvant therapies capable of enhance current fibrinolytic drugs and/or increase efficacy of endovascular treatments.</div></div><div><h3>Conclusion</h3><div>The knowledge of thrombus components and mechanisms involved in its formation open a potential way in ischemic stroke therapeutics with promising perspectives.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 77-88"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140274258","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

Diagnóstico y tratamiento de los trastornos de la presión intracraneal: Documento de consenso del Grupo de Estudio de Cefaleas de la Sociedad Española de Neurología 颅内压紊乱的诊断和治疗：西班牙神经病学学会头痛研究小组共识文件。

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2023.06.003

J. García-Ull , N. González-García , M. Torres-Ferrús , D. García-Azorín , I.F.J. Molina-Martínez , I. Beltrán-Blasco , S. Santos-Lasaosa , G. Latorre , A.B. Gago-Veiga , J.M. Láinez , J. Porta-Etessam , C. Nieves-Castellanos , A. Mínguez-Olaondo , A. López-Bravo , S. Quintas , N. Morollón , S. Díaz-Insa , R. Belvís , P. Irimia

{"title":"Diagnóstico y tratamiento de los trastornos de la presión intracraneal: Documento de consenso del Grupo de Estudio de Cefaleas de la Sociedad Española de Neurología","authors":"J. García-Ull , N. González-García , M. Torres-Ferrús , D. García-Azorín , I.F.J. Molina-Martínez , I. Beltrán-Blasco , S. Santos-Lasaosa , G. Latorre , A.B. Gago-Veiga , J.M. Láinez , J. Porta-Etessam , C. Nieves-Castellanos , A. Mínguez-Olaondo , A. López-Bravo , S. Quintas , N. Morollón , S. Díaz-Insa , R. Belvís , P. Irimia","doi":"10.1016/j.nrl.2023.06.003","DOIUrl":"10.1016/j.nrl.2023.06.003","url":null,"abstract":"<div><div>Primary intracranial pressure disorders include idiopathic intracranial hypertension and spontaneous intracranial hypotension. These two entities have presented a remarkable advance in diagnostic and therapeutic techniques in recent years. Therefore, the Spanish Society of Neurology's Headache Study Group considered it necessary to prepare this consensus document with the inclusion of diagnostic and therapeutic algorithms to facilitate and improve their management in clinical practice.</div><div>This document was created by a committee of experts of the Spanish Society of Neurology's Headache Study Group based on a systematic review of the literature, incorporating the experience of the participants, and establishing practical recommendations with levels of evidence and grades of recommendation.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 118-137"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140279297","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 variability in STIM1 variant c.262A>G associated with Stormorken syndrome

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2023.02.010

L. Silva-Hernández , B. Cabal-Paz , J. Jiménez-Almonacid , E. González-Vioque , J. Bohm

引用次数: 0

A variant in GRN of Spanish origin presenting with heterogeneous phenotypes

IF 2.9 4区医学

Neurologia Pub Date : 2025-01-01 DOI: 10.1016/j.nrl.2022.09.004

M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , V. Álvarez

{"title":"A variant in GRN of Spanish origin presenting with heterogeneous phenotypes","authors":"M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , V. Álvarez","doi":"10.1016/j.nrl.2022.09.004","DOIUrl":"10.1016/j.nrl.2022.09.004","url":null,"abstract":"<div><h3>Introduction</h3><div>The variant c.1414-1G>T in the <em>GRN</em> gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.</div></div><div><h3>Methods</h3><div>We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.</div></div><div><h3>Results</h3><div>Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. <em>Ex vivo</em> splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11.</div></div><div><h3>Conclusions</h3><div>We conclude that variant c.1414-1G>T of the <em>GRN</em> gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 57-65"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171398","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