Association between myasthenia gravis and Alzheimer's disease. / Miastenia gravis y enfermedad de Alzheimer: una asociación a estudio.

INTRODUCTION: Myasthenia gravis (MG) and Alzheimer's disease (AD) are two of the most important diseases where the dysregulation of acetylcholine activity plays a crucial role. In the first, this dysregulation happens at the level of the neu-romuscular junction and in the second, in the central nervous system (CNS). AIM: To analyze the possible relationship between these two pathologies, analyzing the prevalence and the odds ratio of AD within patients previously diagnosed with MG. We will compare these data with respect to the prevalence of AD in the general population. PATIENTS AND METHODS: We examined the data obtained by the electronic medical records of patients in the health care system of Castilla La Mancha using the Natural Language Process provided by a clinical platform of artificial intelligence known as the Savana Manager?. RESULTS: We identified 970,503 patients over the age of 60 years, of which 1,028 were diagnosed with MG. The proportion of the patients diagnosed with AD within this group (4.28%) was greater than the rest of the population (2.82%) (p = 0,0047) with an odds ratio of 1.54 (confidence interval at 95% 1.13-2.08; p = 0.0051) without finding significant differences in the bivariate analysis for the rest of the most important actual known risk factors for AD. CONCLUSION: Our results suggest that there might be an increase in the prevalence of AD in patients previously diagnosed with MG.

TITLE: Miastenia gravis y enfermedad de Alzheimer: una asociación a estudio.Introducción. La miastenia gravis (MG) y la enfermedad de Alzheimer (EA) son dos de las enfermedades neurológicas en cuya fisiopatología interviene la acetilcolina en distintos niveles. En la primera, la alteración de este neurotransmisor se produce en la unión neuromuscular, y en la segunda, en el sistema nervioso central. Objetivo. Analizar la posible relación entre dichas patologías estudiando la prevalencia y la odds ratio de la EA dentro de los pacientes diagnosticados de MG con respecto a la prevalencia de EA en la población general. Pacientes y métodos. Se han examinado datos de las historias clínicas electrónicas del sistema de salud de Castilla-La Mancha utilizando el procesamiento de lenguaje natural a través de la plataforma clínica de inteligencia artificial Savana Manager?. Resultados. Se ha identificado a 970.503 pacientes mayores de 60 años, de los que 1.028 tenían diagnóstico de MG. La proporción de pacientes con diagnóstico de EA dentro de este grupo (4,28%) es mayor que en el resto de la población (2,82%; p = 0,0047), con una odds ratio de 1,54 (intervalo de confianza al 95%: 1,13-2,08; p = 0,0051), sin que se encuentren diferencias significativas en el análisis bivariante del resto de los factores de riesgo para EA más importantes conocidos hasta ahora. Conclusiones. Nuestros resultados sugieren que podría existir un aumento de la prevalencia de EA en pacientes con MG.

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España / Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neu-rodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espa˜na en2019.Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de lospacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espa˜na.Resultados: Se obtuvo información de 1933 pacientes procedentes de 11 Comunidades Autóno-mas, de 47 neurólogos o genetistas. Edad media: 53,64 a˜nos ± 20,51 desviación estándar (DE);938 varones (48,5%), 995 mujeres (51,5%). En 920 pacientes (47,6%) no se conoce el defectogenético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados dePEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más fre-cuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEHrecesiva más frecuente es la SPG7.Conclusiones: La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se haconseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuira estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentespara hacer los screenings por comunidades, y favorecer los ensayos clínicos.(AU)

Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes.We aimed to determine the prevalence of these disorders in Spain in 2019.Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descrip-tive study of patients with ataxia and hereditary spastic paraplegia in Spain between March2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities,provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51)years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect wasunidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%)had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegiawere estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequenttype of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia wasFriedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in oursample was SPG4, and the most frequent recessive type was SPG7.Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic para-plegia was 7.73 cases per 100 000 population. This rate is similar to those reported for othercountries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, ourstudy provides useful data for estimating the necessary healthcare resources for these patients,raising awareness of these diseases, determining the most frequent causal mutations for localscreening programmes, and promoting the development of clinical trials.(AU)

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. / Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Temblor y ataxia en COVID-19 / Tremor and ataxia in COVID-19

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[Intravenous thrombolytic treatment in acute ischemic stroke: initial results in the Complejo Hospitalario Universitario de Albacete]. / Administración de tratamiento trombolítico intravenosoen el ictus isquémico en fase aguda: resultados enel Complejo Hospitalario Universitario de Albacete.

AIM: To analyze the safety profile and clinical outcome of patients with acute cerebral ischemia who received open treatment with tissue plasminogen activator (rt-PA) in a hospital without previous experience. PATIENTS AND METHODS: This prospective and observational study were realized from January 2004 to January 2007. A total of 1,704 consecutive patients with ischemic stroke were attended. 72 of them (4.2%) were treated with rt-PA within 3 hours from the symptoms onset. We analyzed age, vascular risk factors, initial and 24 hours neurological state by the National Institute of Health Stroke Scale (NIHSS), incidence of intracerebral hemorrhage and mortality and independence at 90 days. Patients were treated by neurologist and stroke monitoring was performed in the emergency area. RESULTS: Baseline median NIHSS was 16. At 24 hours, 53% of patients had improved = or > 4 points in the NIHSS and 33% showed = or > 10 points improvement or total recovery. The median time from stroke onset to rt-PA treatment was 160 minutes. Symptomatic intracerebral hemorrhage occurred in two patients (2.7%). Overall mortality at 90 days was 9.7%, but was due to hemorrhagic brain complications only in one case. At three months, 51% of patients were independent according to the modified Rankin scale. CONCLUSIONS: Treatment of acute ischemic stroke within three hours with intravenous rt-PA is safe and is associated with favorable outcome when it is applied by neurologists following approved protocols even in hospitals without previous experience.

Administración de tratamiento trombolítico intravenoso en el ictus isquémico en fase aguda: resultados en el Complejo Hospitalario Universitario de Albacete / Intravenous thrombolytic treatment in acute ischemic stroke: inicial results in the Complejo Hospitalario Universitario de Albacete

Analizar los resultados obtenidos en administración de trombólisis intravenosa en el ictus isquémicoagudo en el Complejo Universitario Hospitalario de Albacete, un centro sin experiencia previa adquirida en ensayos clínicos en la administración de este tratamiento. Pacientes y métodos. Estudio observacional y prospectivo, realizado entre enero de2004 y enero de 2007. En este período se atendieron 1.704 ictus isquémicos, 343 de los cuales fueron remitidos como código ictus. Se trató a 72 pacientes (4,2%) con activador del plasminógeno tisular recombinante (rt-PA). Analizamos las variablesedad, factores de riesgo vascular, tiempos de latencia intra y extrahospitalaria, evolución clínica temprana, incidencia de hemorragias cerebrales, mortalidad y situación funcional tres meses después del ictus. Resultados. La edad media fue de 69 años, y la puntuación mediana de la escala de ictus del National Institute of Health (NIHSS) inicial, de 16 puntos. A las 24 horas del inicio, el 53% de los pacientes manifestó mejoría igual o superior a 4 puntos en la NIHSS. El 33% mejoró en 10 puntos o más o presentó una recuperación completa. El tiempo medio desde el inicio de los síntomas-administración rt-PA fue de 160 minutos. Dos casos (2,7%) presentaron hemorragia cerebral sintomática. A los tres meses, el 51% presentaba independencia para sus actividades (escala de Rankin modificada igual o inferior a 2) y la mortalidad era del 9,7%. Conclusiones. El establecimiento y aplicación estandarizada de protocolos extra e intrahospitalarios de atención urgente al ictus permite ofrecer tratamiento trombolítico intravenoso en el infarto cerebral de manera segura y eficaz desde el principio, aun en centros que, como éste, carecían de experiencia previa en este tipo de tratamiento

To analyze the safety profile and clinical outcome of patients with acute cerebral ischemia who received opentreatment with tissue plasminogen activator (rt-PA) in a hospital without previous experience. Patients and methods. This prospective and observational study were realized from January 2004 to January 2007. A total of 1,704 consecutive patients with ischemic stroke were attended. 72 of them (4.2%) were treated with rt-PA within 3 hours from the symptoms onset. Weanalyzed age, vascular risk factors, initial and 24 hours neurological state by the National Institute of Health Stroke Scale (NIHSS), incidence of intracerebral hemorrhage and mortality and independence at 90 days. Patients were treated by neurologist and stroke monitoring was performed in the emergency area. Results. Baseline median NIHSS was 16. At 24 hours,53% of patients had improved = or > 4 points in the NIHSS and 33% showed = or > 10 points improvement or total recovery. The median time from stroke onset to rt-PA treatment was 160 minutes. Symptomatic intracerebral hemorrhage occurred in two patients (2.7%). Overall mortality at 90 days was 9.7%, but was due to hemorrhagic brain complications only in one case. Atthree months, 51% of patients were independent according to the modified Rankin scale. Conclusions. Treatment of acute ischemic stroke within three hours with intravenous rt-PA is safe and is associated with favorable outcome when it is applied byneurologists following approved protocols even in hospitals without previous experience