Revista de neurologia最新文献

{"title":"[Epilepsy in Angelman syndrome and the most common electroencephalographic findings].","authors":"E Ebrat-Mancilla, A Sánchez-Aparicio, A Pérez de Vargas-Martínez, M E Marín-Serrano, M Vaquero-Martínez, G Iglesias-Escalera, M R Cazorla, L F López-Pájaro","doi":"10.33588/rn.7908.2024233","DOIUrl":"10.33588/rn.7908.2024233","url":null,"abstract":"<p><strong>Introduction: </strong>Angelman syndrome is a genetic disorder characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic behavioural phenotype, seizures and abnormalities in video electroencephalograms (video EEG). Angelman syndrome may be associated with genetic mechanisms involving the region of chromosome 15q11-13. Up to 90% of cases have epileptic seizures, usually in the early years of life. Videoelectroencephalography patterns with some typical characteristics associated with Angelman syndrome have been reported, although these are not specific to it, and as such it is also useful for early diagnosis, especially in the first months or years of life.</p><p><strong>Objective: </strong>To characterise the videoelectroencephalography findings of 17 patients diagnosed with Angelman syndrome, and compare them with previously published studies.</p><p><strong>Patients and methods: </strong>We conducted a retrospective observational study of 34 video EEGs performed on 17 patients diagnosed with Angelman syndrome at the clinical neurophysiology service of the Puerta de Hierro University Hospital in Madrid between 2019 and 2022. The primary objective was to characterise the videoelectroencephalographic findings and compare them with previously published studies. As secondary objectives, we analysed the patterns proposed by Dan and Boyd, and other demographic, genetic and clinical data.</p><p><strong>Results: </strong>Video EEG supported the clinical suspicion in our study, as baseline brain activity was altered in all the patients. We identified a pattern similar to those defined by Dan and Boyd in 88% of the cases, and the type III pattern was the most common in our series.</p><p><strong>Conclusions: </strong>These findings confirm that video EEG is highly sensitive for the diagnosis of Angelman syndrome, and very useful as a diagnostic biomarker in the early stages of life.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Commercial devices for monitoring symptoms in Parkinson's disease: benefits, limitations and trends].","authors":"D Rodríguez-Martín, C Pérez-López","doi":"10.33588/rn.7908.2024253","DOIUrl":"10.33588/rn.7908.2024253","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a neurodegenerative disorder that significantly affects patients' quality of life. Treatment of PD requires accurate assessment of motor and non-motor symptoms, which is often complicated by subjectivity in reporting symptoms, and the limited availability of neurologists. Commercial wearable devices, which monitor PD symptoms continuously and outside the clinical setting, have appeared to address these challenges. These devices include PKG™, Kinesia 360™, Kinesia U™, PDMonitor™ and STAT-ON™. These devices use advanced technologies, including accelerometers, gyroscopes and specific algorithms to provide objective data on motor symptoms, such as tremor, dyskinesia and bradykinesia. Despite their potential, the adoption of these devices has been limited, due to concerns about their accuracy, complexity of use and the lack of independent validation. The correlation between the measurements obtained from these devices and traditional clinical observations varies, and their usability and patient adherence are critical areas for improvement. Validation and usability studies with a sufficient number of patients, standardised protocols and integration with hospitals' IT systems are essential to optimise their usefulness and improve patient outcomes.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Glycemic management in the stroke unit and its relationship with morbidity and mortality].","authors":"A Ruiz-Hernández, E González-Arnaiz, I González-Puente, J Tejada-García, I Beltrán-Rodríguez, L A García Tuñón-Villaluenga, A Pérez-Álvarez, P González-Feito, B Villarrubia-González, J Barrutia-Yovera, M D Ballesteros-Pomar","doi":"10.33588/rn.7908.2023337","DOIUrl":"10.33588/rn.7908.2023337","url":null,"abstract":"<p><strong>Aim: </strong>To determine the treatment of hyperglycemia in the stroke unit, and to compare the morbidity and mortality of patients treated with an intravenous (iv) insulin therapy protocol compared to subcutaneous (sc) insulin when reaching glycemia levels of = 155 mg/dL.</p><p><strong>Patients and methods: </strong>We performed a prospective observational study of patients admitted to our stroke unit between July and October 2022. Demographic, glycemic and prognostic variables were collected. Glycemic variability was defined as the standard deviation (SD) of the mean individual glycemia during the first 24-72 hours. Acute complications during admission and mortality at discharge and at 3 months were determined. The variables were analysed by subgroup according to the insulin regime in patients with type 2 diabetes mellitus (DM2) or stress hyperglycemia.</p><p><strong>Results: </strong>The sample consisted of 181 patients, of whom 63.5% were male, with a mean age of 74.2 (SD: 11.6) years. 25.4% required insulin due to glycemia = 155 mg/dL (18 patients iv and 28 sc). 31.5% had DM2 (82.6% of the group receiving insulin and 14% of group without insulin). The group receiving insulin presented higher levels of glycemic variability, at 33.3 (SD: 21.7) mg/dL vs. 11.7 (SD: 7) mg/dL (p < 0.01), more acute complications (43.5% vs. 19.2%; p < 0.01) and higher mortality at 3 months (19.5% vs. 6.6%; p = 0.04) than the group without insulin, and no differences were observed between the type of insulin regime in the subgroups with DM2 or stress hyperglycemia.</p><p><strong>Conclusions: </strong>The patients with glycemia = 155 mg/dL presented higher levels of glycemic variability, acute complications and mortality at 3 months, and no differences were observed in the type of insulin regime, regardless of whether they had DM2.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Nocturnal continuous subcutaneous infusion of apomorphine in advanced Parkinson's disease: a series of 37 cases].","authors":"C García-Fernández, A K Vargas-Mendoza, B López-López, M Blázquez-Estrada, M E Suárez-San Martín","doi":"10.33588/rn.7908.2024117","DOIUrl":"10.33588/rn.7908.2024117","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple factors can cause sleep disturbances in Parkinson's disease. The quality of sleep and therefore of life is usually improved with continuous dopaminergic stimulation therapies, such as continuous subcutaneous infusion of apomorphine.</p><p><strong>Patients and methods: </strong>We present an observational retrospective study of patients at our centre with advanced Parkinson's disease, treated with continuous infusion of apomorphine, with treatment extended to nights, between 2011 and 2022. We collected data from 37 patients, and evaluated the indication for nocturnal treatment, efficacy, safety and reasons for withdrawal.</p><p><strong>Results: </strong>Fifty percent of patients began nocturnal treatment for motor complications, 19% for non-motor complications and 31% for both. The most common non-motor symptoms were sleep fragmentation and disturbances, neuropathic pain, psychiatric symptoms and intense nocturia. Twenty of the 37 patients (54%) were continuing treatment at the end of the study follow-up, 16 (43%) discontinued the infusion, and one (3%) was lost to follow-up. The adverse reactions that led to termination of the infusion were severe nodules (two), dopaminergic psychosis (one) and a positive Coombs test with/without anaemia (one). Four patients terminated the nocturnal infusions while continuing the daytime infusions due to suboptimal adaptation to the device. Patients whose symptoms improved without any significant adverse effects continued the treatment.</p><p><strong>Conclusions: </strong>Continuous infusion of apomorphine during the night was an effective and safe treatment in our series.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cefalea crónica diaria refractaria secundaria a malformación arteriovenosa protuberancial medial.","authors":"A Valera, E Marco de Lucas, V González-Quintanilla, J Pascual","doi":"10.33588/rn.7907.2024231","DOIUrl":"10.33588/rn.7907.2024231","url":null,"abstract":"","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Construction and validation of a test for verbal auditory screening of cognitive alterations (CAVAC)].","authors":"P Martino, M Cervigni, E V Cores, F Cossini, K Román, C Cuesta, M M Esnaola Y Rojas, G Graviotto, M Gallegos, D Politis","doi":"10.33588/rn.7907.2024171","DOIUrl":"10.33588/rn.7907.2024171","url":null,"abstract":"<p><strong>Introduction: </strong>The global burden of dementia will continue to increase and Latin America will be one of the most affected regions. It is urgent to have new and better cognitive screening tools. There are few screenings composed entirely of auditory-verbal items and even more so for Argentine culture. The objective was to build and validate a test for verbal auditory screening of cognitive alterations (CAVAC) in Argentina.</p><p><strong>Subjects and methods: </strong>Evidence based in test content was analyzed through 16 experts collaborated. In addition, evidence based on relationships to other variables, internal consistency and the ability to discriminate between cognitively healthy subjects, Mild Cognitive Impairment (MCI) and dementia were investigated. The CAVAC was applied to 316 Argentines (M age = 68,5). Volunteers from the general population and patients from neurology services from two Argentine hospitals participated.</p><p><strong>Results: </strong>The CAVAC test explores orientation/attention, memory/learning, language and executive functions, and is administered in 10 minutes with a score of 0 to 30. Aiken's V coefficient was satisfactory for all items. The CAVAC achieved a high correlation with the Mini Mental (0.762) and an acceptable Cronbach's alpha (0.746). The CAVAC score differs between controls, mild cognitive impairment (MCI) and dementia, and the ROC curves reveal adequate area values ??to discriminate MCI and dementia (>0.7), and cut-off points with good sensitivity-specificity.</p><p><strong>Conclusions: </strong>A new auditory-verbal test is made available for the screening of cognitive alterations with acceptable evidence of validity, good reliability, with the capacity to identify MCI and dementia, and free of charge for use.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Pre-hospital and hospital treatment of febrile seizures].","authors":"I Trittler-Ugidos, F Paredes-Carmona, G Vidiella-Rico, N Visa-Reñé","doi":"10.33588/rn.7907.2024243","DOIUrl":"10.33588/rn.7907.2024243","url":null,"abstract":"<p><strong>Introduction: </strong>Given that febrile seizures are a common reason for both hospital and pre-hospital visits to physicians, and in the absence of a clear consensus on guidelines for treatment, especially for complex febrile seizures (CFS), we aim to examine their characteristics and treatment in order to improve the approach to the issue.</p><p><strong>Patients and methods: </strong>This is an observational, retrospective, single-centre study including paediatric patients seen after a seizure associated with a febrile illness in the emergency department of a second-level hospital between September 2021 and December 2023. Epidemiological, clinical and treatment variables were collected.</p><p><strong>Results: </strong>A total of 266 febrile seizures were included in the study: 188 (70.7%) were simple, and 78 (29.3%) were complex. Most benzodiazepines were administered during pre-hospital treatment (82%), and the transmucosal route was used in 70.3% of cases, despite the patient being in a healthcare environment. Complementary tests were performed in 70.6% of cases, blood tests in 65.6%, and nasopharyngeal swabs for viruses in 79.3%. A total of 73.6% of the tests requested were for patients with a focus of the fever.</p><p><strong>Conclusions: </strong>Extensive use of complementary tests persists, despite the identification of a focus of the fever in most patients. Our results show that systematic complementary tests and the admission of patients who have presented a CFS would not be justified, and each individual case should be considered.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Etiology of epilepsy in Mexico: results from the national multi-centre register].","authors":"J C Reséndiz-Aparicio, Y López-Vargas, G Vargas-Ramírez, J Rogel-Cuevas, J I Castro-Macías, G Soca-Chafre, E Castro-Martínez","doi":"10.33588/rn.7907.2024107","DOIUrl":"10.33588/rn.7907.2024107","url":null,"abstract":"<p><strong>Introduction: </strong>Epilepsy affects millions of people and its geographical patterns are usually linked to etiological aspects. Our objective was to describe main etiologies of epilepsy in Mexico.</p><p><strong>Patients and methods: </strong>We selected patients from the Multicenter Epilepsy Registry carried out from 2021 to 2022 in 89 Mexican hospitals in 31 states, a sample predominantly of pediatric age. Only patients with electroencephalography and neuroimaging studies were included.</p><p><strong>Results: </strong>We analyzed 6,653 patients with documented etiologies. Etiology frequency with confidence interval (95% CI) was: structural 46.1% (44.9-47.3), genetic 12.9% (12.1-13.7), infectious 2.9%. (2.5-3.3), metabolic 1.4% (1.1-1.7), immune 0.9% (0.8-1.3) and unknown 40.9% (39.8-42.2). The two main structural etiologies were malformations of cortical development and hypoxic-ischemic encephalopathy. Neurocysticercosis represented a minority with only 1%. Structural and genetic etiologies were associated with focal and generalized onset seizures respectively. Status epilepticus was identified, mostly with motor component, associated with immune and infectious etiologies. Comorbidities were found in 61.6%, mainly neurological development disorders. Drug-resistant epilepsy was more common in patients with immune, infectious and structural etiologies.</p><p><strong>Conclusions: </strong>The main etiology of epilepsy was structural. The frequency of genetic etiology was relatively lower than in other series, possibly due to the limited availability of genetic tests. Despite technological advances, a large fraction of epilepsies still has unknown origin.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Epilepsy and inborn errors of metabolism].","authors":"S Moya-López, A Ruiz-Colodrero, J Sainz-García, V Fariña-Jara, M C García-Jiménez, E Castejón-Ponce, J López-Pisón, R Pérez-Delgado","doi":"10.33588/rn.7905.2024088","DOIUrl":"10.33588/rn.7905.2024088","url":null,"abstract":"<p><strong>Introduction: </strong>Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment.</p><p><strong>Objective: </strong>To determine its incidence and characteristics in metabolic diseases.</p><p><strong>Material and methods: </strong>A retrospective review of neuropaediatric and metabolic databases was performed. Data on the type of epilepsy, age of onset and refractoriness were collected.</p><p><strong>Results: </strong>Two cases out of three (66%) with molybdenum cofactor deficiency and neonatal epileptic encephalopathy; three with vitamin-sensitive epilepsies: pyridoxamine sulphate oxidase deficiency, antichitin and biotinidase deficiency, early onset and good seizure control with biotin; one with homocystinuria, with late onset and polytherapy; one with Menkes disease difficult to control; two with GLUT-1 deficiencies with absent and generalized discharges in the electroencephalogram; five (33%) peroxisomes in monotherapy, except for a suspected peroxisome biogenesis deficiency; 13 (34%) lysosomal deficiencies; a glycosylation disorder, with infantile and refractory spasms; seven (8.5%) organic aminoacidopathies and acidurias, one with infantile spasms (propionic acidemia), three with nonketotic hyperglycinemia with neonatal epileptic encephalopathy, one with monotherapy (leukinosis) and two (3.3%) with unscreened hyperphenylalaninemia; and five (20%) mitochondrial, most of which had oxidative phosphorylation deficiencies.</p><p><strong>Conclusions: </strong>The diagnosis of metabolic epilepsy requires a high level of suspicion in unscreened diseases. The semiology of the seizures and the electrocardiogram data are not characteristic, but some clinical data may provide guidance, such as early onset and refractoriness, neuroimaging and some biochemical markers. Although genetic studies are increasingly cost-effective in epilepsy, we must continue to search for earlier biomarkers and test targeted therapeutic trials.</p>","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/PMC11469104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142111481","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}

{"title":"[Statistical power in medical research. What position should be taken when research results are not significant?]","authors":"C Carazo-Díaz, L Prieto-Valiente","doi":"10.33588/rn.7905.2024099","DOIUrl":"10.33588/rn.7905.2024099","url":null,"abstract":"<p><p>The original idea of rejecting studies with low power and authorising them if their power is sufficiently high is reasonable and even an obligation, although in practice this reasoning is heavily constrained by the fact that the power of a study depends on several factors, rather than a single one. Furthermore, there is no threshold separating 'high' power values from 'low' power values'. However, if the result is very significant, considering how powerful it was it makes little sense after the study has been carried out. It is only possible to take advantage of the result. Situations in which this result is not statistically significant warrant further consideration. Consideration of the power may be useful in these circumstances. This article focuses on the position that should be adopted in these cases, and it shows that in order to draw reasonable conclusions about the effect size of the population, calculating the confidence interval is more useful than calculating the power, and its interpretation is more easily understood by physicians who lack training in statistical analysis.</p>","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/PMC11469103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142111482","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}