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OBJECTIVES: This study compares the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) within three clinic-based populations from Cuba, Uruguay and Ireland and determines the impact of known ALS-associated genetic variants on phenotypic manifestations within the Cuban population. METHODS: Demographic and clinical information was collected on 115 Cuban, 220 Uruguayan and 1038 Irish patients with ALS attending national specialist clinics through 1996-2017. All Cuban patients and 676 Irish patients underwent next-generation DNA sequencing and were screened for the pathogenic C9orf72 repeat expansion. RESULTS: The mean age of onset was younger in the Cuban (53.0 years, 95% CI 50.4 to 55.6) and Uruguayan (58.2 years, 95% CI 56.5 to 60.0) populations compared with the Irish population (61.6 years, 95% CI 60.9 to 62.4). No differences in survival between populations were observed. 1.7 % (95% CI 0.6 to 4.1) of Cubans with ALS carried the C9orf72 repeat expansion compared with 9.9% (95% CI 7.8 to 12.0) of Irish patients with ALS (p=0.004). Other known variants identified in the Cuban population included ANG (one patient), CHCHD10 (one patient) and DCTN1 (three patients). CONCLUSIONS AND RELEVANCE: This study is the first to describe the clinical characteristics of ALS in Cuban and Uruguayan populations and report differences between the Cuban and Irish genetic signature in terms of known ALS-associated genetic variants. These novel clinical and genetic data add to our understanding of ALS across different and understudied populations.
Assuntos
Esclerose Lateral Amiotrófica/genética , Idade de Início , Esclerose Lateral Amiotrófica/mortalidade , Esclerose Lateral Amiotrófica/patologia , Cuba , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Irlanda , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Análise de Sobrevida , Uruguai , Sequenciamento Completo do GenomaRESUMO
OBJECTIVE: The Latin American Epidemiologic study of ALS (LAENALS) aims to gather data on ALS epidemiology, phenotype, and risk factors in Cuba, Chile, and Uruguay, to understand the impact of genetic and environmental factors on ALS. METHODS: A harmonized data collection protocol was generated, and a Latin-American Spanish language Register was constructed. Patient data were collected in Uruguay in 2018, in Chile from 2017 to 2019, and in Cuba between 2017 and 2018. Statistical analysis was performed using SPSS 25.0.0 software. Crude cumulative incidence, standardized incidence, and prevalence were calculated in the population aged 15 years and older. RESULTS: During 2017-2019, 90 people with ALS from Uruguay (55.6% men), 219 from Chile (54.6% men), and 49 from Cuba (55.1% men) were included. The cumulative crude incidence in 2018 was 1.73/100,000 persons in Uruguay, 1.08 in Chile and 0.195 in Cuba. Crude prevalence in 2018 was 2.19 per 100,000 persons in Uruguay, 1.39 in Chile and 0.55 in Cuba. Mean age at onset was 61.8 ± 11.96 SD years in Uruguay, 61.9 ± 10.4 SD years in Chile, and 60.21 ± 12.45 SD years in Cuba (p = 0.75). Median survival from onset was 32.43 months (21.93 - 42.36) in Uruguay, 24 months (13.5 - 33.5) in Chile, and 29 months (15 - 42.5) in Cuba (p = 0.006). CONCLUSIONS: These preliminary data from LAENALS confirm the lower incidence and prevalence of ALS in counties with admixed populations. The LAENALS database is now open to other Latin American countries for harmonized prospective data collection.
Assuntos
Esclerose Lateral Amiotrófica , Masculino , Humanos , Feminino , América Latina/epidemiologia , Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/epidemiologia , Cuba/epidemiologia , Uruguai/epidemiologia , PrevalênciaRESUMO
Fundamento: los biomarcadores de estrés oxidativo en la enfermedad de Huntington pudieran predecir el curso de la enfermedad y evaluar nuevos tratamientos, pero su naturaleza inespecífica parece impedir la identificación de algún marcador útil. Esclarecer similitudes y diferencias de este fenómeno y su comportamiento con características clínicas puede ser esencial. Objetivo comparar biomarcadores de estrés oxidativo entre pacientes con enfermedad de Huntington y con otros desórdenes neurológicos. Métodos se realizó un estudio analítico, retrospectivo y caso-control (enfermedad de Huntington esclerosis lateral amiotrófica, ataxia espinocerebelosa tipo 2 e ictus isquémico: en etapa aguda y crónica). Se recogieron variables demográficas, clínicas y marcadores de daño oxidativo (malonildialdehído, productos avanzados de oxidación a proteínas) y antioxidantes (superóxido dismutasa: catalasa: glutatión peroxidasa, capacidad antioxidante del plasma). Resultados hubo diferencias significativas del malonildialdehído en la enfermedad de Huntington respecto al control (p=0,02), pero no con el resto de los grupos. La enzima superóxido dismutasa en enfermedad de Huntington fue menor estadísticamente en comparación con esclerosis lateral amiotrófica, aunque para la catalasa fue superior en relación con el resto de los pacientes. El FRAP en enfermedad de Huntington resultó menor significativamente versus esclerosis lateral amiotrófica e ictus isquémico agudo. Los productos avanzados de la oxidación de proteína se correlacionaron directamente con las edades biológicas y de inicio de la enfermedad de Huntington. La actividad motora en la esclerosis lateral amiotrófica y el déficit neurológico en el ictus isquémico agudo se correlacionaron con el malonildialdehído y glutatión peroxidasa respectivamente. Conclusiones la enfermedad de Huntington parece mostrar características específicas en su sistema antioxidante. La oxidación de proteínas pudiera estar relacionada con la acumulación de huntingtina mutada en el tiempo.
Foundation: biomarkers of oxidative stress in Huntington's disease could predict the course of the disease and evaluate new treatments, but their nonspecific nature seems to prevent the identification of any useful marker. Clarifying similarities and differences of this phenomenon and its behavior with clinical characteristics may be essential. Objective: compare biomarkers of oxidative stress between patients with Huntington's disease and other neurological disorders. Methods: an analytical, retrospective and case-control study was carried out (Huntington's disease, amyotrophic lateral sclerosis, spinocerebellar ataxia type 2 and ischemic stroke: acute and chronic stage). Demographic and clinical variables and markers of oxidative damage (malonildialdehyde, advanced protein oxidation products) and antioxidants (superoxide dismutase: catalase: glutathione peroxidase, plasma antioxidant capacity) were collected. Results: there were significant differences in malonyldialdehyde in Huntington's disease compared to the control (p=0.02), but not with the rest of the groups. The enzyme superoxide dismutase in Huntington's disease was statistically lower compared to amyotrophic lateral sclerosis, although for catalase it was higher in relation to the rest of the patients. FRAP in Huntington's disease was significantly lower versus amyotrophic lateral sclerosis and acute ischemic stroke. Advanced products of protein oxidation were directly correlated with the biological and onset ages of Huntington's disease. Motor activity in amyotrophic lateral sclerosis and neurological deficit in acute ischemic stroke were correlated with malonyldialdehyde and glutathione peroxidase, respectively. Conclusions: huntington's disease seems to show specific characteristics in its antioxidant system. Protein oxidation could be related to the accumulation of mutated huntingtin over time.
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Introducción: La automedicación es un fenómeno creciente y ha sido considerado un problema de salud pública en la actualidad. Objetivo: Estimar el nivel de automedicación relacionado con el retraso diagnóstico de pacientes con enfermedades neurológicas y los factores asociados a esta táctica de autocuidado. Métodos: Se proyectó un estudio observacional de corte transversal, en el que se incluyeron 102 pacientes y 100 familiares pertenecientes al municipio Plaza de la Revolución, atendidos en consulta de Neurología del Instituto de Neurología y Neurocirugía, con diagnóstico de enfermedades neurológicas, durante el período de un año (junio 2018-junio2019). Resultados: Del total de pacientes, 45,1 por ciento manifestó automedicarse, fue más frecuente en mujeres (63,1 por ciento), con predominio en pacientes no universitarios (90 por ciento) y amas de casa (54,3 por ciento). El síntoma principal que motivó la automedicación fue la cefalea (30,4 por ciento), y los analgésicos no opioides fue el grupo de mayor consumo (23,9 por ciento). La latencia al diagnóstico de enfermedades neurológicas en el grupo de automedicados fue entre 10 a 19 meses mayor que en los no automedicados. Conclusiones: La automedicación constituye una práctica muy frecuente, lo cual produjo el retraso diagnóstico y terapéutico de diversas enfermedades neurológicas de baja incidencia, dando al traste con una evolución adecuada de ellas(AU)
Introduction: Self-medication is a growing phenomenon and, today, has been considered a public health concern. Objective: To estimate the level of self-medication related to the diagnostic delay of patients with neurological diseases and the factors associated with this self-care tactic. Methods: An observational and cross-sectional study was designed, in including 102 patients and one hundred relatives from Plaza de la Revolución Municipality, who received attention, during a one-year period (June 2018-June 2019), in the neurology consultation of the Institute of Neurology and Neurosurgery, and had a diagnosis of neurological diseases. Results: Of the total number of patients, 45.1 percent manifested to medicate themselves; it was more frequent in women (63.1 percent), with a predominance in non-university patients (90 percent) and housewives (54.3 percent). The main symptom that motivated self-medication was headache (30.4 percent), while nonopioid analgesics made up the group with the highest consumption (23.9 percent). Latency regarding the diagnosis of neurological diseases in the self-medicated group was between ten and nineteen months higher than in the non-self-medicated group. Conclusions: Self-medication is a very frequent practice, which caused the diagnostic and therapeutic delay of various neurological diseases of low incidence, ruining their adequate evolution(AU)
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Autocuidado/tendências , Automedicação , Envelhecimento , Polimedicação , Estudos Transversais , Estudo ObservacionalRESUMO
Resumen Justificación y objetivo: Las infecciones asociadas a la asistencia sanitaria elevan los costos, prolongan la estadía hospitalaria e incrementan la mortalidad, por lo que se hace necesaria la desinfección ambiental como método de disminuir este problema. El objetivo del estudio fue evaluar el impacto del uso del ozono para la desinfección ambiental, en áreas de alto riesgo hospitalario. Métodos: Se realizó una intervención para la desinfección de ambiente con el empleo de equipos de ozono en áreas de alto riesgo del Instituto de Neurología y Neurocirugía de Cuba, y se evaluó el resultado mediante las siguientes variables: estado microbiológico ambiental, número de fallecidos en general, por sepsis, y consumo de antibióticos durante enero - junio de 2019. Resultados: De las 12 áreas evaluadas, previo a la aplicación de ozono ambiente, teniendo en cuenta la cantidad de unidades formadoras de colonias por m3, 2 se clasificaron como ambiente no aceptable, 3 como ambiente aceptable, 7 como ambiente limpio. Posterior a la aplicación de ozono, se obtuvo en las 12, resultados correspondientes a ambiente muy limpio. El consumo de antibióticos disminuyó a un tercio en las áreas expuestas evaluadas y se elevó en las no expuestas. Hubo menor número de fallecidos que en similar periodo del año anterior a la intervención. Conclusiones: La desinfección ambiental con ozono en áreas hospitalarias de alto riesgo fue útil para generar ambientes limpios, y favorecer la disminución del consumo de antibióticos, la estadía hospitalaria y la mortalidad por infecciones asociadas a la asistencia sanitaria.
Summary Background and aim: Health care-associated infections raise costs, prolong hospital stays and increase mortality, making environmental disinfection necessary as a method of reducing this problem. The aim of this study was to evaluate the impact of the use of ozone for environmental disinfection in areas of high hospital risk. Methods: An intervention was carried out to disinfect the environment with the use of ozone equipment in high-risk areas of the Cuban Institute of Neurology an Neurosurgery and the result was evaluated using the following variables: environmental microbiological status, number of deaths in general and for sepsis, and consumption of antibiotics from January to June 2019. Results: Of the 12 areas evaluated, prior to the application of ozone, taking into account the number of colony forming units per m3, 2 were classified as unacceptable, 3 as an acceptable environment and 7 as a clean environment . After the ozone application, the results of the 12 areas showed a very clean environment. Antibiotic use decreased to a third in the exposed areas evaluated and rose in the unexposed areas. There were fewer deaths than in a similar period of the year prior to the intervention. Conclusions: Environmental disinfection with ozone in high-risk hospital areas is useful to generate clean environments, and favor the decrease in antibiotic consumption and mortality due to infections associated with healthcare.
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Ozônio/análise , Desinfecção , Infecção Hospitalar , Cuba , MicrobiologiaRESUMO
RESUMEN Introducción: La epilepsia es la alteración neurológica más frecuente en la población general. El objetivo de la cirugía de epilepsia es garantizar la ausencia o disminución de crisis, lo que se logra en el 80 % de los pacientes. Objetivo: Evaluar la evolución posquirúrgica y factores de buen pronóstico de los pacientes intervenidos de epilepsia farmacorresistente (EFR) en el Instituto de Neurología y Neurocirugía. Material y Métodos: Se realizó un estudio observacional descriptivo retro y prospectivo en el Instituto de Neurología y Neurocirugía entre enero de 2012 a mayo de 2018. Resultados: La edad del 44,8 % de los pacientes estuvo entre 21 y 30 años, el 62,1 % era del sexo masculino y el 82,8 % tenía color de piel blanca, el 31 % presentó entre 11 y 20 años de evolución. En el 75,9 % la epilepsia era lesional, el 55,2 % con localización temporal y en el 86,2 % se demostró congruencia clínica. Se utilizaron técnicas resectivas en 87,6 %. El 82,8 % no presentó crisis postoperatorias. En 62,1 % no se presentaron complicaciones. A los 3, 6 y 12 meses después de la intervención entre el 55 al 82 % de los pacientes estudiados se clasificaron como Engel clase I y clase II. Conclusiones: En nuestro estudio predominó la utilización de técnicas resectivas y la ausencia de crisis posterior a la cirugía. No se registró relación significativa entre la evolución posquirúrgica, la etiología de la epilepsia y la congruencia clínica. La presencia de lesión focal en el lóbulo temporal constituyó un factor de buen pronóstico.
ABSTRACT Introduction: Epilepsy is the most frequent neurological alteration in the general population. The objective of epilepsy surgery is to guarantee the absence or the decrease of seizures which is achieved in 67 % and 80 % of patients. Objective: To evaluate the surgical outcome and the factors for good outcome in patients with drug-resistant epilepsy (DRE) who underwent surgical treatment at the Institute of Neurology and Neurosurgery. Material and Methods: A retrospective prospective observational study was conducted at the Institute of Neurology and Neurosurgery between January 2012 and May 2018. Results: Of all the patients studied, 44,8 % were between 21 and 30 years old, 62,1 % were male and 82,8 % were white. Also, 31 % were between 11 and 20 years of follow-up. Epilepsy was lesional in 75,9 % of patients whereas in 55,2 % of them it was located in the temporal lobe; clinical congruence was demonstrated in 86,2 % of patients. Resective techniques were used in 87,6 % of them. Besides, 82,8 % had no postoperative seizures. There were no complications in 62,1 % of patients. On the other hand, 55 and 82 % of the patients studied were classified as Engel Class I and Engel Class II at 3, 6 and 12 months after surgical intervention. Conclusions: The use of resective techniques and the absence of seizures after surgery predominated in our study. No significant relationship was found between surgical outcome, etiology of epilepsy and clinical congruence. The presence of a focal lesion of the temporal lobe was a factor for good outcome.