Pub Date : 2025-01-01DOI: 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
Introduction
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.
Objective
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.
Method
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.
Results
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.
Conclusions
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.
{"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}
Pub Date : 2025-01-01DOI: 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
Introduction
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.
Method
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.
Conclusions
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.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.07.002
V. Shaygannejad , O. Mirmosayyeb , S. Vaheb , N. Nehzat , M. Ghajarzadeh
Background
The prevalence of sexual dysfunction (SD) in men with multiple sclerosis (MS) is reported variously in different studies. The most common form of SD in these patients is erectile dysfunction (ED). The goal of this systematic review and meta-analysis is to determine the pooled prevalence of SD and ED in men suffering from MS.
Methods
We searched PubMed, Scopus, EMBASE, CINAHL, Web of Science, and gray literature (references of references, and congress abstracts) up to 14th November 2020.
Results
We found 3163 studies by primary search, 2246 were included after deletion of duplicates. Finally, 29 studies were included for meta-analysis. A total of 3349 patients were evaluated. The pooled prevalence of SD was 66% (95% CI: 64%–69%). The pooled prevalence of erectile dysfunction was 49% (95% CI: 47%–50%).
Conclusion
Sexual dysfunction is a prevalent complication of MS in male patients which should be considered by clinicians.
背景：不同的研究报告了多发性硬化症（MS）男性性功能障碍（SD）的患病率。这些患者中最常见的SD形式是勃起功能障碍（ED）。本系统综述和荟萃分析的目的是确定多发性硬化症男性中SD和ED的总患病率。方法我们检索了PubMed、Scopus、EMBASE、CINAHL、Web of Science和灰色文献（参考文献的参考文献和国会摘要），截止到2020年11月14日。结果初步检索得到3163篇文献，删除重复文献后纳入2246篇。最后，纳入29项研究进行荟萃分析。共评估了3349例患者。SD的总患病率为66% （95% CI: 64%-69%）。勃起功能障碍的总患病率为49% （95% CI: 47%-50%）。结论性功能障碍是男性多发性硬化症的常见并发症，应引起临床医生的重视。
{"title":"The prevalence of sexual dysfunction and erectile dysfunction in men with multiple sclerosis: A systematic review and meta-analysis","authors":"V. Shaygannejad , O. Mirmosayyeb , S. Vaheb , N. Nehzat , M. Ghajarzadeh","doi":"10.1016/j.nrl.2022.07.002","DOIUrl":"10.1016/j.nrl.2022.07.002","url":null,"abstract":"<div><h3>Background</h3><div>The prevalence of sexual dysfunction (SD) in men with multiple sclerosis (MS) is reported variously in different studies. The most common form of SD in these patients is erectile dysfunction (ED). The goal of this systematic review and meta-analysis is to determine the pooled prevalence of SD and ED in men suffering from MS.</div></div><div><h3>Methods</h3><div>We searched PubMed, Scopus, EMBASE, CINAHL, Web of Science, and gray literature (references of references, and congress abstracts) up to 14th November 2020.</div></div><div><h3>Results</h3><div>We found 3163 studies by primary search, 2246 were included after deletion of duplicates. Finally, 29 studies were included for meta-analysis. A total of 3349 patients were evaluated. The pooled prevalence of SD was 66% (95% CI: 64%–69%). The pooled prevalence of erectile dysfunction was 49% (95% CI: 47%–50%).</div></div><div><h3>Conclusion</h3><div>Sexual dysfunction is a prevalent complication of MS in male patients which should be considered by clinicians.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 22-31"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171401","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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.11.007
J. Marta-Enguita , F.J.D. Machado , J. Orbe , R. Muñoz
Introduction
Since mechanical thrombectomy has allowed ischemic stroke thrombi retrieval, its exhaustive study has involved a better knowledge of physiopathological processes implied in its formation.
Development
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.
Conclusion
The knowledge of thrombus components and mechanisms involved in its formation open a potential way in ischemic stroke therapeutics with promising perspectives.
{"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}
Pub Date : 2025-01-01DOI: 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
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.
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.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.09.004
M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , V. Álvarez
Introduction
The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.
Methods
We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.
Results
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. Ex vivo 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.
Conclusions
We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.09.005
R. Alonso Castillo, J.C. Martínez Castrillo
Introduction
Coronavirus disease 2019 (COVID-19) has spread rapidly, giving rise to a pandemic, causing significant morbidity and mortality. In this context, many vaccines have emerged to try to deal with this disease.
Objective
To review the reported cases of neurological manifestations after the application of COVID-19 vaccines, describing clinical, analytical and neuroimaging findings and health outcomes.
Methods
We carried out a review through bibliographic searches in PubMed.
Results
We found 86 articles, including 13,809 patients with a wide spectrum of neurological manifestations temporally associated with COVID-19 vaccination. Most occurred in women (63.89%), with a median age of 50 years. The most frequently reported adverse events were Bell's palsy 4936/13809 (35.7%), headache (4067/13809), cerebrovascular events 2412/13809 (17.47%), Guillain-Barré syndrome 868/13809 (6.28%), central nervous system demyelination 258/13809 (1.86%) and functional neurological disorder 398/13809 (2.88%). Most of the published cases occurred in temporal association with the Pfizer vaccine (BNT162b2), followed by the AstraZeneca vaccine (ChAdOX1 nCoV-19).
Conclusions
It is not possible to establish a causal relationship between these adverse events and COVID-19 vaccines with the currently existing data, nor to calculate the frequency of appearance of these disorders. However, it is necessary for health professionals to be familiar with these events, facilitating their early diagnosis and treatment. Large controlled epidemiological studies are necessary to establish a possible causal relationship between vaccination against COVID-19 and neurological adverse events.
{"title":"Manifestaciones neurológicas asociadas a la vacuna contra COVID-19","authors":"R. Alonso Castillo, J.C. Martínez Castrillo","doi":"10.1016/j.nrl.2022.09.005","DOIUrl":"10.1016/j.nrl.2022.09.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Coronavirus disease 2019 (COVID-19) has spread rapidly, giving rise to a pandemic, causing significant morbidity and mortality. In this context, many vaccines have emerged to try to deal with this disease.</div></div><div><h3>Objective</h3><div>To review the reported cases of neurological manifestations after the application of COVID-19 vaccines, describing clinical, analytical and neuroimaging findings and health outcomes.</div></div><div><h3>Methods</h3><div>We carried out a review through bibliographic searches in PubMed.</div></div><div><h3>Results</h3><div>We found 86 articles, including 13,809 patients with a wide spectrum of neurological manifestations temporally associated with COVID-19 vaccination. Most occurred in women (63.89%), with a median age of 50 years. The most frequently reported adverse events were Bell's palsy 4936/13809 (35.7%), headache (4067/13809), cerebrovascular events 2412/13809 (17.47%), Guillain-Barré syndrome 868/13809 (6.28%), central nervous system demyelination 258/13809 (1.86%) and functional neurological disorder 398/13809 (2.88%). Most of the published cases occurred in temporal association with the Pfizer vaccine (BNT162b2), followed by the AstraZeneca vaccine (ChAdOX1 nCoV-19).</div></div><div><h3>Conclusions</h3><div>It is not possible to establish a causal relationship between these adverse events and COVID-19 vaccines with the currently existing data, nor to calculate the frequency of appearance of these disorders. However, it is necessary for health professionals to be familiar with these events, facilitating their early diagnosis and treatment. Large controlled epidemiological studies are necessary to establish a possible causal relationship between vaccination against COVID-19 and neurological adverse events.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 66-76"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33514961","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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.07.004
O. Mirmosayyeb , V. Shaygannejad , N. Ebrahimi , H. Ghoshouni , M. Ghajarzadeh
Objective
To estimate the pooled prevalence of cancer in patients with multiple sclerosis (MS) cases who were under treatment with rituximab.
Methods
We searched PubMed, Scopus, EMBASE, Web of Science, and google scholar along with gray literature up to April 2021.
The search strategy included the MeSH and text words as ((“CD20 Antibody” AND Rituximab) OR “Rituximab CD20 Antibody” OR Mabthera OR “IDEC-C2B8 Antibody” OR “IDEC C2B8 Antibody” OR IDEC-C2B8 OR “IDEC C2B8” OR GP2013 OR Rituxan OR rituximab) AND ((Sclerosis AND multiple) OR (sclerosis AND disseminated) OR "disseminated sclerosis" OR "multiple sclerosis" OR "acute fulminating").
Results
The literature search revealed 3577 articles, after deleting duplicates 2066 remained. For the meta-analysis, 22 studies were included. Totally, 15599 patients were enrolled while 133 cancers were detected.
The pooled prevalence of cancer in MS patients under treatment with rituximab is 1in 100,000 (I2 = 99.9%, p < 0.001).
Conclusion
The results of this systematic review and meta-analysis show that the pooled prevalence of cancer in MS patients who received rituximab is 1 in 100,000 cases.
目的评估接受利妥昔单抗治疗的多发性硬化症（MS）患者癌症的总患病率。方法检索PubMed、Scopus、EMBASE、Web of Science和b谷歌学者以及截至2021年4月的灰色文献。搜索策略包括MeSH和文本词（“CD20 Antibody”and Rituximab）或“Rituximab CD20 Antibody”或Mabthera或“IDEC-C2B8 Antibody”或“IDEC C2B8 Antibody”或“IDEC C2B8”或GP2013或Rituxan或Rituximab)和（（硬化症和多发性）或（硬化症和弥散性）或“弥散性硬化症”或“多发性硬化症”或“急性暴发性”）。结果共检索到3577篇文献，删除重复文献后剩余2066篇。荟萃分析纳入了22项研究。共纳入15599名患者，检测出133例癌症。接受利妥昔单抗治疗的MS患者中癌症的总患病率为10万分之一(I2 = 99.9%, p <；0.001)。本系统综述和荟萃分析的结果显示，接受利妥昔单抗治疗的MS患者中癌症的总患病率为10万分之一。
{"title":"The prevalence of cancer in patients with multiple sclerosis (MS) who received rituximab: a systematic review and meta-analysis","authors":"O. Mirmosayyeb , V. Shaygannejad , N. Ebrahimi , H. Ghoshouni , M. Ghajarzadeh","doi":"10.1016/j.nrl.2022.07.004","DOIUrl":"10.1016/j.nrl.2022.07.004","url":null,"abstract":"<div><h3>Objective</h3><div>To estimate the pooled prevalence of cancer in patients with multiple sclerosis (MS) cases who were under treatment with rituximab.</div></div><div><h3>Methods</h3><div>We searched PubMed, Scopus, EMBASE, Web of Science, and google scholar along with gray literature up to April 2021.</div><div>The search strategy included the MeSH and text words as ((“CD20 Antibody” AND Rituximab) OR “Rituximab CD20 Antibody” OR Mabthera OR “IDEC-C2B8 Antibody” OR “IDEC C2B8 Antibody” OR IDEC-C2B8 OR “IDEC C2B8” OR GP2013 OR Rituxan OR rituximab) AND ((Sclerosis AND multiple) OR (sclerosis AND disseminated) OR \"disseminated sclerosis\" OR \"multiple sclerosis\" OR \"acute fulminating\").</div></div><div><h3>Results</h3><div>The literature search revealed 3577 articles, after deleting duplicates 2066 remained. For the meta-analysis, 22 studies were included. Totally, 15599 patients were enrolled while 133 cancers were detected.</div><div>The pooled prevalence of cancer in MS patients under treatment with rituximab is 1in 100,000 (I2 = 99.9%, p < 0.001).</div></div><div><h3>Conclusion</h3><div>The results of this systematic review and meta-analysis show that the pooled prevalence of cancer in MS patients who received rituximab is 1 in 100,000 cases.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 41-47"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171399","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}
Pub Date : 2025-01-01DOI: 10.1016/j.nrl.2022.07.001
U. Gomez-Pinedo , J.A. Matías-Guiu , L. Torre-Fuentes , P. Montero-Escribano , L. Hernández-Lorenzo , V. Pytel , P. Maietta , S. Alvarez , I. Sanclemente-Alamán , L. Moreno-Jimenez , D. Ojeda-Hernandez , N. Villar-Gómez , M.S. Benito-Martin , B. Selma-Calvo , L. Vidorreta-Ballesteros , R. Madrid , J. Matías-Guiu
Introduction
Genomic studies have identified numerous genetic variants associated with susceptibility to multiple sclerosis (MS); however, each one explains only a small percentage of the risk of developing the disease. These variants are located in genes involved in specific pathways, which supports the hypothesis that the risk of developing MS may be linked to alterations in these pathways, rather than in specific genes. We analyzed the role of the TNFRSF1A gene, which encodes one of the TNF-α receptors involved in a signaling pathway previously linked to autoimmune disease.
Methods
We included 138 individuals from 23 families including at least 2 members with MS, and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing. We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584 (-g.6442643C > G, NM_001065.4:c.362 G > A, R92Q) by plasmid transfection into human oligodendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labeling was used to locate the protein within cells. We also analyzed the ability of transfected HOG cells to proliferate and differentiate into oligodendrocytes.
Results
Variant rs4149584 was found in 2 patients with MS (3.85%), one patient with another autoimmune disease (7.6%), and in 5 unaffected individuals (7.46%). The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. The study of HOG cells transfected with the mutation showed that the protein does not reach the cell membrane, but rather accumulates in the cytoplasm, particularly in the endoplasmic reticulum and near the nucleus; this suggests that, in the cells presenting the mutation, TNFRSF1 does not act as a transmembrane protein, which may alter its signaling pathway. The study of cell proliferation and differentiation found that transfected cells continue to be able to differentiate into oligodendrocytes and are probably still capable of producing myelin, although they present a lower rate of proliferation than wild-type cells.
Conclusions
Variant rs4149584 is associated with risk of developing MS. We analyzed its functional role in oligodendrocyte lineage cells and found an association with MS in homozygous carriers. However, the associated molecular alterations do not influence the differentiation into oligodendrocytes; we were therefore unable to confirm whether this variant alone is pathogenic in MS, at least in heterozygosis.
{"title":"Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis","authors":"U. Gomez-Pinedo , J.A. Matías-Guiu , L. Torre-Fuentes , P. Montero-Escribano , L. Hernández-Lorenzo , V. Pytel , P. Maietta , S. Alvarez , I. Sanclemente-Alamán , L. Moreno-Jimenez , D. Ojeda-Hernandez , N. Villar-Gómez , M.S. Benito-Martin , B. Selma-Calvo , L. Vidorreta-Ballesteros , R. Madrid , J. Matías-Guiu","doi":"10.1016/j.nrl.2022.07.001","DOIUrl":"10.1016/j.nrl.2022.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Genomic studies have identified numerous genetic variants associated with susceptibility to multiple sclerosis (MS); however, each one explains only a small percentage of the risk of developing the disease. These variants are located in genes involved in specific pathways, which supports the hypothesis that the risk of developing MS may be linked to alterations in these pathways, rather than in specific genes. We analyzed the role of the <em>TNFRSF1A</em> gene, which encodes one of the TNF-α receptors involved in a signaling pathway previously linked to autoimmune disease.</div></div><div><h3>Methods</h3><div>We included 138 individuals from 23 families including at least 2 members with MS, and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing. We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584 (-g.6442643C > G, NM_001065.4:c.362 G > A, R92Q) by plasmid transfection into human oligodendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labeling was used to locate the protein within cells. We also analyzed the ability of transfected HOG cells to proliferate and differentiate into oligodendrocytes.</div></div><div><h3>Results</h3><div>Variant rs4149584 was found in 2 patients with MS (3.85%), one patient with another autoimmune disease (7.6%), and in 5 unaffected individuals (7.46%). The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. The study of HOG cells transfected with the mutation showed that the protein does not reach the cell membrane, but rather accumulates in the cytoplasm, particularly in the endoplasmic reticulum and near the nucleus; this suggests that, in the cells presenting the mutation, TNFRSF1 does not act as a transmembrane protein, which may alter its signaling pathway. The study of cell proliferation and differentiation found that transfected cells continue to be able to differentiate into oligodendrocytes and are probably still capable of producing myelin, although they present a lower rate of proliferation than wild-type cells.</div></div><div><h3>Conclusions</h3><div>Variant rs4149584 is associated with risk of developing MS. We analyzed its functional role in oligodendrocyte lineage cells and found an association with MS in homozygous carriers. However, the associated molecular alterations do not influence the differentiation into oligodendrocytes; we were therefore unable to confirm whether this variant alone is pathogenic in MS, at least in heterozygosis.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 10-21"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171402","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}
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