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Introducción La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación. (AU)
INTRODUCTIO NHuntingtons disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntingtons disease. CASE REPORT A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION. Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon. (AU)
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Humanos , Feminino , Pré-Escolar , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Transtornos Heredodegenerativos do Sistema Nervoso , Pediatria , Transtornos do Neurodesenvolvimento , Transtornos do Desenvolvimento da Linguagem , Transtornos Neurológicos da MarchaRESUMO
Abstract The flexed elbow is a standardization position on the handgrip strength test, however the literature shows divergence in the values obtained from extended elbow. The aim of this study was to verify if there is such difference in people with Parkinson's disease. Cross-sectional study. Thirty-one elderly individuals with clinical diagnosis of Parkinson's disease, performed 2 handgrip tests, first with extended elbow and second with flexed elbow, with 48 hours of interval. There was not significantly different between positions for handgrip strength (p > 0.05). As well as, the effect size was insignificant (d < 0.19). The main results indicate there was no significant difference between the flexed and the extended protocol, the effect size was negative and very small, it shows there is no clinical effect. Since, there are no difference between elbow positions, The American Society of Hand Therapists standardized position is recommended for testing of handgrip strength.
Resumo O cotovelo flexionado é uma posição padronizada no teste de força de preensão manual, no entanto, a literatura mostra divergências nos valores obtidos com o cotovelo estendido. O objetivo deste estudo foi verificar se existe tal diferença em pessoas com a doença de Parkinson. Estudo transversal. Trinta e um idosos com diagnóstico clínico da doença de Parkinson realizaram 2 testes de preensão manual, o primeiro com o cotovelo estendido e o segundo com o cotovelo flexionado, com intervalo de 48 horas. Não houve diferença significativa entre as posições para a força de preensão manual (p > 0,05). Além disso, o tamanho do efeito foi insignificante (d < 0,19). Os principais resultados indicam que não houve diferença significativa entre o protocolo flexionado e o estendido, o tamanho do efeito foi negativo e muito pequeno, o que mostra que não há efeito clínico. Portanto, não há diferença entre as posições do cotovelo, recomenda-se a posição padronizada da Sociedade Americana de Terapeutas de Mão para o teste de força de preensão manual.
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Objetivo: el objetivo del estudio es determinar si el uso de nutrición enteral domiciliaria (NED) por gastrostomía endoscópica percutánea (PEG) reduce la carga del cuidador y mejora la calidad de vida de los pacientes referida por los cuidadores. Material y métodos: se llevó a cabo un estudio observacional, descriptivo, prospectivo de una cohorte única de 30 pacientes. Resultados: los resultados mostraron una mejoría del estado nutricional y parámetros analíticos. Se observaron reducción de los ingresos (1,50 ± 0,90 vs 0,17 ± 0,38; p < 0,001) y estancia hospitalaria tras la colocación de la PEG a los 3 meses (10,2 ± 8,02 días vs 0,27 ± 0,69 días; p < 0,001). Los minutos que le dedicaban los cuidadores a la administración de NED disminuyeron tras la colocación de la PEG en 28,5 minutos por toma, lo que supone a lo largo de un día y 5 tomas diarias casi 150 minutos. Hubo una reducción de la percepción de sobrecarga de 13,5 puntos según el test de Zarit. El 56,6 % de los cuidadores refirieron que la calidad de vida había mejorado bastante, frente al 6,7 % que respondieron poca mejoría y el 36,7 % que contestaron mucha mejoría. Asimismo, se obtuvo una puntuación de 3,40 puntos superior en la escala QoL-AD tras la colocación de la PEG. Conclusiones: El uso de NED por sonda PEG reduce el tiempo que el cuidador le dedica a la administración de NE, dando lugar a una reducción de la carga. Además, mejora la calidad de vida de los pacientes referida por los cuidadores. (AU)
Objective: the aim of the study is to determine if the use of home enteral nutrition (HEN) by percutaneous endoscopic gastrostomy (PEG) reduces the burden on the caregiver and improves the patients' quality of life reported by the caregivers. Material and methods: a prospective, cross-sectional, descriptive, and observational study of a single cohort of 30 patients was conducted. Results: the results showed an improvement in nutritional status and analytical parameters. Fewer admissions (1.50 ± 0.90 vs 0.17 ± 0.38; p < 0.001) and hospital stays were reported at 3 months after gastrostomy (10.2 ± 8.02 days vs 0.27 ± 0.69 days; p < 0.001). The minutes spent by caregivers administering NEDs decreased after PEG placement by 28.5 minutes per feeding, which amounts to almost 150 minutes over a day and 5 feedings per day. In the Zarit questionnaire, there was a reduction of 13.5 points in the perception of overload. A total of 56.6 % of caregivers reported that quality of life had improved "quite a lot", compared to 6.7 % who reported little improvement, and 36.7 % who reported a lot of improvement. In the QoL-AD questionnaire, a higher score of 3.40 points was obtained. Conclusion: the use of HEN by PEG tube reduces the time spent by the caregiver administering EN, which results in a reduced burden. In addition, the quality of life of patients reported by caregivers improved. (AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Qualidade de Vida , Estado Nutricional , Nutrição Enteral , Cuidadores , Epidemiologia Descritiva , Estudos Prospectivos , Espanha , Sonda de Prospecção , GastrostomiaRESUMO
Introduction: Objective: the aim of the study is to determine if the use of home enteral nutrition (HEN) by percutaneous endoscopic gastrostomy (PEG) reduces the burden on the caregiver and improves the patients' quality of life reported by the caregivers. Material and methods: a prospective, cross-sectional, descriptive, and observational study of a single cohort of 30 patients was conducted. Results: the results showed an improvement in nutritional status and analytical parameters. Fewer admissions (1.50 ± 0.90 vs 0.17 ± 0.38; p < 0.001) and hospital stays were reported at 3 months after gastrostomy (10.2 ± 8.02 days vs 0.27 ± 0.69 days; p < 0.001). The minutes spent by caregivers administering NEDs decreased after PEG placement by 28.5 minutes per feeding, which amounts to almost 150 minutes over a day and 5 feedings per day. In the Zarit questionnaire, there was a reduction of 13.5 points in the perception of overload. A total of 56.6 % of caregivers reported that quality of life had improved "quite a lot", compared to 6.7 % who reported little improvement, and 36.7 % who reported a lot of improvement. In the QoL-AD questionnaire, a higher score of 3.40 points was obtained. Conclusion: the use of HEN by PEG tube reduces the time spent by the caregiver administering EN, which results in a reduced burden. In addition, the quality of life of patients reported by caregivers improved.
Introducción: Objetivo: el objetivo del estudio es determinar si el uso de nutrición enteral domiciliaria (NED) por gastrostomía endoscópica percutánea (PEG) reduce la carga del cuidador y mejora la calidad de vida de los pacientes referida por los cuidadores. Material y métodos: se llevó a cabo un estudio observacional, descriptivo, prospectivo de una cohorte única de 30 pacientes. Resultados: los resultados mostraron una mejoría del estado nutricional y parámetros analíticos. Se observaron reducción de los ingresos (1,50 ± 0,90 vs 0,17 ± 0,38; p < 0,001) y estancia hospitalaria tras la colocación de la PEG a los 3 meses (10,2 ± 8,02 días vs 0,27 ± 0,69 días; p < 0,001). Los minutos que le dedicaban los cuidadores a la administración de NED disminuyeron tras la colocación de la PEG en 28,5 minutos por toma, lo que supone a lo largo de un día y 5 tomas diarias casi 150 minutos. Hubo una reducción de la percepción de sobrecarga de 13,5 puntos según el test de Zarit. El 56,6 % de los cuidadores refirieron que la calidad de vida había mejorado "bastante", frente al 6,7 % que respondieron poca mejoría y el 36,7 % que contestaron mucha mejoría. Asimismo, se obtuvo una puntuación de 3,40 puntos superior en la escala QoL-AD tras la colocación de la PEG. Conclusiones: El uso de NED por sonda PEG reduce el tiempo que el cuidador le dedica a la administración de NE, dando lugar a una reducción de la carga. Además, mejora la calidad de vida de los pacientes referida por los cuidadores.
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Gastrostomia , Qualidade de Vida , Gastrostomia/métodos , Sobrecarga do Cuidador , Estudos Transversais , Estudos ProspectivosRESUMO
Introducción: El envejecimiento poblacional implica un desafío para los países respecto a prevenir y detectar trastornos neurodegenerativos. El Montreal Cognitive Assessment (MoCA), test de cribado breve, de simple aplicación, válido y confiable, evalúa el estado cognitivo general, siendo útil en contextos de salud pública. El estudio busca normalizar y estandarizar el test MoCA para población chilena. Método: Se presenta estudio de validación para prueba diagnóstica de tipo descriptivo y correlacional, se evaluó a 526 sujetos, hombres y mujeres, de entre 18 y 90 años, sanos, del norte, centro y sur de Chile, analizando: el efecto de la edad, nivel educativo y sexo, para rendimiento de MoCA. Resultados: Se demuestra un efecto significativo de la edad y el nivel educativo sobre el rendimiento cognitivo general según MoCA. La edad, educación y sexo explican 1-7% de la varianza. El rendimiento cognitivo medio del total de la muestra fue de 24,04 ± 3,22, para un rango definido originalmente por el instrumento de 26 puntos sobre 30. Los adultos mayores con menor educación formal presentaron bajos resultados y menor rendimiento cognitivo. Se propone protocolo de evaluación de resultados en percentiles y puntuaciones por rango de edad y puntuación escalar normalizada individual. Discusión: Se presentan datos normativos de MoCA según las características sociodemográficas chilenas y puntos de corte propuestos para discriminar el rendimiento cognitivo normal de trastornos neurocognitivos según rangos de edad, ajustando los resultados al nivel educacional, la propuesta permitiría facilitar el uso del instrumento y disminuir la aparición de falsos positivos.(AU)
Introduction: Population ageing poses a challenge for countries in preventing and detecting neurodegenerative disorders. The Montreal Cognitive Assessment (MoCA), a short, simple, valid, and reliable screening test, assesses general cognitive status, and is useful in public health contexts. This study aims to normalise and standardise the MoCA test for the Chilean population. Method: We performed a descriptive, correlational validation study of the MoCA test, using a sample including 526 healthy individuals of both sexes, aged between 18 and 90 years, from the north, centre, and south of Chile. We analysed the effects of age, education level, and sex on MoCA performance. Results: Age and education level had a significant impact on general cognitive performance, as determined by MoCA score. Age, education, and sex account for 1-7% of variance. The mean (standard deviation) score for the total sample was 24.04 (3.22), whereas the normal range originally defined for the instrument is 26-30 points. Older adults with less formal education presented poorer results and lower cognitive performance. We propose a protocol for evaluating results by percentiles and scores for different age ranges, and an individual normalised scalar score. Discussion: We present normative data for the MoCA test in the Chilean population, and propose cut-off points for different age ranges to discriminate normal cognitive performance from neurocognitive disorders; results are adjusted for education level. This proposal would assist in the use of the test and reduce the rate of false positives.(AU)
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Humanos , Feminino , Gravidez , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Programas de Rastreamento , Testes Diagnósticos de Rotina , Escolaridade , Doenças Neurodegenerativas , Chile , Testes NeuropsicológicosRESUMO
The aging process is often related to sleeping difficulties, often due to changes in circadian rhythms. The circadian timing system is centered in the suprachiasmatic nucleus - the master biological clock - which synchronizes the rhythm of oscillators throughout the body, including the sleep-wake cycle. This affects the time, duration and quality of sleep according to the development and aging process, under external and internal influences. This review addresses the human circadian timing system, including endogenous and exogenous influences on circadian rhythms, their age-related particularities, as well as the repercussions of circadian misalignment in neurodegenerative diseases. Circadian rhythms naturally weaken with aging, but there are particularities according to age. Throughout life, sleep and circadian rhythm disorders are strongly bidirectionally related to the pathophysiology of some psychiatric and neurodegenerative diseases, such as Alzheimer's and Parkinson's diseases. This knowledge could potentially create valuable opportunities to improve the health of the world's population that is under circadian misalignment and aging.
O processo de envelhecimento está frequentemente relacionado a dificuldades de dormir, muitas vezes decorrentes de alterações nos ritmos circadianos. O sistema de ronometragem circadiana está centrada no núcleo supraquiasmático - o relógio biológico mestre - o qual sincroniza o ritmo dos osciladores em todo o corpo, incluindo o ciclo sono-vigília. Isso afeta o tempo, a duração e a qualidade do sono de acordo com o processo de desenvolvimento e envelhecimento, sob influências externas e internas. Esta revisão aborda o sistema de temporização circadiana humana, incluindo as influências endógenas e exógenas nos ritmos circadianos, suas particularidades relacionadas à idade, bem como as repercussões do desalinhamento circadiano nas doenças neurodegenerativas. Os ritmos circadianos enfraquecem naturalmente com o envelhecimento, mas há particularidades de acordo com a idade. Ao longo da vida, os transtornos do sono e do ritmo circadiano estão fortemente relacionados bidirecionalmente à fisiopatologia de algumas doenças psiquiátricas e neurodegenerativas, como as doenças de Alzheimer e Parkinson. Esse conhecimento pode potencialmente criar oportunidades valiosas para melhorar a saúde da população mundial que está sob desalinhamento circadiano e envelhecimento.
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INTRODUCTION: Population ageing poses a challenge for countries in preventing and detecting neurodegenerative disorders. The Montreal Cognitive Assessment (MoCA), a short, simple, valid, and reliable screening test, assesses general cognitive status, and is useful in public health contexts. This study aims to normalise and standardise the MoCA test for the Chilean population. METHOD: We performed a descriptive, correlational validation study of the MoCA test, using a sample including 526 healthy individuals of both sexes, aged between 18 and 90 years, from the north, centre, and south of Chile. We analysed the effects of age, education level, and sex on MoCA performance. RESULTS: Age and education level had a significant impact on general cognitive performance, as determined by MoCA score. Age, education, and sex account for 1%-7% of variance. The mean (standard deviation) score for the total sample was 24.04 (3.22), whereas the normal range originally defined for the instrument is 26-30 points. Older adults with less formal education presented poorer results and lower cognitive performance. We propose a protocol for evaluating results by percentiles and scores for different age ranges, and an individual normalised scalar score. DISCUSSION: We present normative data for the MoCA test in the Chilean population, and propose cut-off points for different age ranges to discriminate normal cognitive performance from neurocognitive disorders; results are adjusted for education level. This proposal would assist in the use of the test and reduce the rate of false positives.
Assuntos
Disfunção Cognitiva , Masculino , Feminino , Humanos , Idoso , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Chile , Testes de Estado Mental e Demência , Disfunção Cognitiva/diagnóstico , Cognição , EnvelhecimentoRESUMO
La encefalopatía traumática crónica (ETC) es una enfermedad neurodegenerativa que afecta a personas que han padecido traumatismos craneales repetitivos. No obstante, también durante el seguimiento de los pacientes con traumatismo craneoencefálico (TCE) único se pueden observar cambios respecto de su situación previa. Presentamos cuatro casos clínicos de pacientes visitados en la consulta externa del Instituto Guttmann entre 2017 y 2019, afectos de secuelas leves de TCE grave y único que han desarrollado posteriormente una enfermedad neurodegenerativa sin un diagnóstico concreto y que pudiesen cumplir criterios clínicos de síndrome de encefalopatía traumática crónica. Los médicos rehabilitadores son los profesionales con mayor posibilidad de identificar estos pacientes, indicando las exploraciones complementarias necesarias y estableciendo nuevos objetivos de rehabilitación.(AU)
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease that affects people who had repetitive head trauma. Also, in single traumatic brain injury (TBI), changes may be found during the follow-up visits.We present four clinical cases of patients visited at the Institut Guttmann clinic between 2017 and 2019. They were affected by mild sequelae of severe and unique TBI who have subsequently developed a neurodegenerative disease without a specific diagnosis, and who could meet clinical criteria for chronic traumatic encephalopathy syndrome. Rehabilitation doctors are the professionals with the greatest possibility of identifying a suggestive clinic of this pathology, they can order the appropriate studies and indicate the new rehabilitation goals according to the new neurological situation.(AU)
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Encefalopatia Traumática Crônica , Lesões Encefálicas Traumáticas , Demência , Tauopatias , Doença de Alzheimer , Doenças Neurodegenerativas , ReabilitaçãoRESUMO
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease that affects people who had repetitive head trauma. Also, in single traumatic brain injury (TBI), changes may be found during the follow-up visits. We present four clinical cases of patients visited at the Institut Guttmann clinic between 2017 and 2019. They were affected by mild sequelae of severe and unique TBI who have subsequently developed a neurodegenerative disease without a specific diagnosis, and who could meet clinical criteria for chronic traumatic encephalopathy syndrome. Rehabilitation doctors are the professionals with the greatest possibility of identifying a suggestive clinic of this pathology, they can order the appropriate studies and indicate the new rehabilitation goals according to the new neurological situation.
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Lesões Encefálicas Traumáticas , Encefalopatia Traumática Crônica , Doenças Neurodegenerativas , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/diagnóstico , Encefalopatia Traumática Crônica/complicações , Encefalopatia Traumática Crônica/etiologia , Humanos , Doenças Neurodegenerativas/complicaçõesRESUMO
a presente revisión se planteó con el fin de recopilar la evidencia existente sobre el abordaje rehabilitador de la disfagia en adultos mayores con enfermedades neurodegenerativas, con la intención de encontrar propuestas de tratamientos que influyan de manera positiva en la salud de los pacientes. Los métodos de búsqueda se implementaron bajo un proceso ordenado de revisión sistemática bajo el modelo Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), a través de la cual se recolecta información de forma cronológica sobre la evidencia científica de un tema en particular. Para ello se usaron descriptores como: "Adulto; Neurodegenerativa; Disfagia; Rehabilitación". En la revisión sistemática se incluyeron 21 artículos, entre estos se mencionaron estudios y revisiones sobre los tratamientos empleados en las enfermedades neurodegenerativas. En los hallazgos es evidente la intervención multidisciplinar, modificación del entorno, uso de fármacos como medio para mitigar síntomas principalmente motores, procedimientos quirúrgicos; además, maniobras deglutorias, compensatorias, rehabilitadoras, entre otras. Algunas alternativas requieren de la participación del Fonoaudiólogo/Logopeda debido a que en la mayoría de personas que padecen enfermedades neurodegenerativas se ve afectada la fase oral y/o faríngea de la deglución, desencadenando disfagia en diferentes grados de severidad y comprometiendo de forma directa la ingesta de alimentos debido al riesgo de aspiración, neumonía y/o muerte y a su vez, la calidad de vida. Esta revisión sistemática permite identificar la necesidad de realizar más propuestas terapéuticas, estudios que evidencien su eficacia y que, sobre todo, generen cambios significativos en quienes padecen las enfermedades descritas
The present review was proposed in order to compile the existing evidence on the rehabilitative approach in older adults with neurodegenerative diseases, since these treatments directly influence the health of patients. The search methods were implemented under an ordered systematic review process under the Preferred Reporting Items for Systematic Reviews, PRISMA model, in which information is collected chronologically on the scientific evidence of a particular topic. Descriptors such as: Adult, Neurodegenerative, Dysphagia; Rehabilitation. Twenty-one articles were included in the systematic review, including studies and reviews on the treatments used in neurodegenerative diseases. In the findings it is evident inter-transdisciplinary intervention, modification of the environment, use of drugs as a means to mitigate mainly motor symptoms, surgical procedures; in addition, swallowing, compensatory, rehabilitative maneuvers, among others. Some alternatives require the participation of the speech pathologist because in most people suffering from neurodegenerative diseases the oral and / or pharyngeal phase of swallowing is affected, triggering dysphagia in different degrees of severity and directly compromising food intake. due to the risk of aspiration, pneumonia and / or death and, in turn, the quality of life, This systematic review allows us to identify the need to make more proposals for therapeutic options, studies that show their efficacy and that above all generate significant changes in those who suffer described diseases
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Transtornos de Deglutição , Doenças Neurodegenerativas , Deglutição , Pacientes , Pneumonia , Qualidade de Vida , Terapêutica , Saúde , Doença , Risco , Ingestão de AlimentosRESUMO
Resumen A pesar de la gran cantidad de complicaciones neurológicas relacionadas con la infección por SARS-CoV-2, aún no está claro si estos síntomas son el resultado de una lesión neural directa o se deben a alguna otra razón. Actualmente, parece que la mayoría de los síntomas neurológicos del COVID-19 son inespecíficos y secundarios a la enfermedad sistémica. Hasta la fecha no se cuenta con suficiente evidencia científica que confirme que el virus del SARS-CoV-2 afecta de forma directa al sistema nervioso central o periférico en los seres humanos. En el presente artículo corto se presentan las implicaciones de SARS-CoV-2 en el adulto mayor con enfermedad neurodegenerativa, así como los mecanismos de acción relacionados en sistema nervioso.
Abstract Despite the many neurological complications associated with SARS-CoV-2 infection, it isn´t still clear whether these symptoms are the result of direct neural injury or due to some other reason. Currently, it appears that most of the neurological symptoms of COVID-19 are nonspecific and secondary to systemic disease. To date, there is not enough scientific evidence to confirm that SARS-CoV-2 virus directly affects the central or peripheral nervous system in humans. This short article presents the implications of SARS-CoV-2 in the elderly with neurodegenerative disease, as well as the related mechanisms of action in the nervous system.
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Humanos , SARS-CoV-2 , Doenças Neurodegenerativas , COVID-19 , Sistema NervosoRESUMO
INTRODUCTION: Population ageing poses a challenge for countries in preventing and detecting neurodegenerative disorders. The Montreal Cognitive Assessment (MoCA), a short, simple, valid, and reliable screening test, assesses general cognitive status, and is useful in public health contexts. This study aims to normalise and standardise the MoCA test for the Chilean population. METHOD: We performed a descriptive, correlational validation study of the MoCA test, using a sample including 526 healthy individuals of both sexes, aged between 18 and 90 years, from the north, centre, and south of Chile. We analysed the effects of age, education level, and sex on MoCA performance. RESULTS: Age and education level had a significant impact on general cognitive performance, as determined by MoCA score. Age, education, and sex account for 1-7% of variance. The mean (standard deviation) score for the total sample was 24.04 (3.22), whereas the normal range originally defined for the instrument is 26-30 points. Older adults with less formal education presented poorer results and lower cognitive performance. We propose a protocol for evaluating results by percentiles and scores for different age ranges, and an individual normalised scalar score. DISCUSSION: We present normative data for the MoCA test in the Chilean population, and propose cut-off points for different age ranges to discriminate normal cognitive performance from neurocognitive disorders; results are adjusted for education level. This proposal would assist in the use of the test and reduce the rate of false positives.
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La Afasia Progresiva Primaria (APP) es una patología neurodegenerativa que se presenta con afectación insidiosa y progresiva del lenguaje. Los criterios diagnósticos actuales diferencian tres subtipos de APP, cada una con perfiles neurolingüísticos específicos. Diversas investigaciones han propuesto que un síntoma característico de la APP variante semántica (APP-vs) es un mayor compromiso en el procesamiento de conceptos concretos que de abstractos (Efecto de Concretud Inverso - ECI). Para explicar este ECI se han propuesto diferentes explicaciones: (a). el patrón de compromiso neural, (b). el nivel educativo de los pacientes, (c). el estadio de la enfermedad. El objetivo del presente trabajo es estudiar en forma longitudinal la progresión en el procesamiento de conceptos concretos y abstractos en un paciente diagnosticado con APP-vs. Para ello se utilizó una tarea de juicios de sinonimia donde se debe identificar si dos palabras son sinónimos o no. La tarea cuenta con pares de conceptos concretos y abstractos. Se evaluó al paciente en tres momentos (2014, 2015 y 2016). Se observó un mejor desempeño de conceptos abstractos en la primera evaluación. El ECI desaparece en la segunda evaluación. El patrón se revierte en la tercera. Estos resultados apoyan la propuesta de que el ECI observado en pacientes con APP-vs es un síntoma de los estadios iniciales de la enfermedad. Este ECI se relacionaría con la afectación temprana de las porciones del Lóbulo Temporal Anterior que procesan rasgos visuales, que serían más relevantes para los conceptos concretos.
Primary Progressive Aphasia (PPA) is a neurodegenerative disease which appears with progressive and insidious affectation of language. Current diagnostic criteria establish three different subtypes of PPA, each showing specific neurolinguistic profiles. Several researches have proposed a Reverse Concreteness Effect (RCE) as a main symptom for the Semantic Variant of PPA (sv-PPA), that is, a better performance with abstract than concrete concepts. Different explanations for this effect include: (a). pattern of neural degeneration, (b). patients' educational level, (c). moment of disease progression. The aim of this work is to study the progression of concrete and abstract concepts processing in a patient diagnosed with sv-PPA. We used a synonyms judgement task where the subject has to indicate if two words are synonyms or not. The task include both concrete and abstract concepts. The patient was evaluated in three different moments (2014, 2015 and 2016). A better performance with abstract concepts was observed during the first evaluation. The RCE disappeared during the second assessment. The third time showed a reversed pattern. Our results support those proposing that the RCE can only be found at initial stages of vs-PPA. The RCE appears to be related to the early degeneration of some portions in the Anterior Temporal Lobe which process visual features. These would be much more relevant for processing concrete concepts.
Assuntos
Humanos , Doença , Afasia Primária Progressiva , Doenças Neurodegenerativas , Patologia , Pacientes , Sinais e Sintomas , Estudos Longitudinais , Progressão da Doença , IdiomaRESUMO
Resumen El síndrome de Leigh (SL) es una enfermedad neurodegenerativa, descrita como una encefalomielopatía necrotizante subaguda, y es una de las enfermedades de origen mitocondrial más frecuentes. El SL es causado por el déficit en la producción de energía, originada en defectos en los genes que codifican alguno de los complejos mitocondriales; el gen afectado puede ser de codificación tanto nuclear como mitocondrial, lo que explica que se encuentren diferentes mecanismos de herencia, incluyendo autosómica recesiva y herencia materna, lo que, a su vez, hace más difícil su diagnóstico molecular. Clínicamente se presenta con regresión del desarrollo cognitivo y pérdida de habilidades motoras con trastorno de movimiento, de rápida progresión. El diagnóstico se basa en la demostración bioquímica de la elevación del ácido láctico y de la relación lactato/piruvato, así como hallazgos en las neuroimágenes por resonancia magnética que muestran lesiones focales, bilaterales y simétricas en ganglios basales o tallo cerebral asociadas a leucoencefalopatía y atrofia cerebral. Se reportan cinco casos con diagnóstico clínico y bioquímico del SL que ejemplifican la variabilidad clínica y gravedad encontrada en este grupo de pacientes.
Summary Leigh syndrome (LS) is a neurodegenerative disease, described as a subacute necrotizing encephalomyelopathy and is one of the most frequent diseases of mitochondrial origin. LS is caused by a deficit in the energy production due to defects in the genes that encode some of the mitochondrial complexes. The affected gene can be due to either nuclear and/or mitochondrial coding, which explains why there are different ways of inheriting the disease, including autosomal recessive and maternal inheritance, which makes its molecular diagnosis even more difficult. Clinically, LS is characterized by regression in cognitive development and motor abilities, as well as movement disorders of rapid progression. Its diagnosis is based on the biochemical demonstration of an increase in lactic acid and lactate / pyruvate ratio, as well as magnetic resonance neuroimaging findings showing focal, bilateral and symmetric lesions in basal ganglia or brainstem associated with leukoencephalopathy and cerebral atrophy. Five cases are reported with clinical and biochemical diagnosis of LS that exemplify the clinical variability and severity found in this group of patients.
Resumo A síndrome de Leigh (SL) é uma doença neurodegenerativa, descrita como uma encefalomielopatia necrotizante subaguda e é uma das doenças de origem mitocondrial mais frequente. A SL é causada pelo déficit na produção de energia originada em defeitos nos genes que codificam algum dos complexos mitocondriais; o gene afetado pode ser de codificação tanto nuclear como mitocondrial, o que explica que se encontrem diferentes mecanismos de herança, incluindo autossômica recessiva e herança materna, o que torna mais difícil seu diagnóstico molecular. Clinicamente se apresenta com regressão do desenvolvimento do desenvolvimento cognitivo e perda de habilidades motoras com transtorno de movimento, de rápida progressão. O diagnóstico se baseia na demonstração bioquímica da elevação do ácido láctico e da relação lactato/piruvato, assim como descobertas nas neuro imagens por ressonância magnética que mostram lesões focais, bilaterais e simétricas em gânglios basais ou talo cerebral associadas a leucoencefalopatia e atrofia cerebral. Reportam-se cinco casos com diagnóstico clínico e bioquímico da SL que exemplificam a variabilidade clínica e gravidade encontrada neste grupo de pacientes.
Assuntos
Humanos , Doença de Leigh , Bioquímica , Diagnóstico Clínico , ColômbiaRESUMO
Current pharmacological therapies to treat neurological diseases are at best palliative and manage only the symptoms. Unfortunately, few therapies can affect diseases outcomes and alternative strategies such as stem cell therapy, neurotransplantation and deep brain stimulation are still in progress. Diseases such as Alzheimer's and Parkinson's disease become major public health challenge worldwide. In this way, the interest in the development of neuroprotective drugs of natural origin grows. Hence, this systematic review has quantified the studies that refer neuroprotective potential of plants listed in the Brazilian National List of Medicinal Plants of Interest to the Unified Health System (RENISUS). Searches were performed in two scientific databases (PubMed and Science Direct) from 2010 to 2016. A total of 4.532 articles met the inclusion criteria. 445 studies were considered eligible and were reviewed as full text. Following full analysis, 63 studies were included in this review. The studies covered 12 of the 71 plants belonging to RENISUS. In addition, two species are currently available in the Brazilian public health system as herbal medicine. This review may encourage and contribute to the proper use of medicinal plants in public health system.
Las terapias farmacoloÌgicas actuales para tratar enfermedades neuroloÌgicas son, en el mejor de los casos, paliativas y soÌlo controlan los siÌntomas. Desafortunadamente, pocas terapias pueden afectar los avances de las enfermedades y las estrategias alternativas tales como terapia con ceÌlulas madre, neurotransplantate y la estimulacioÌn profunda del cerebro estaÌn todaviÌa en curso. Enfermedades como el Alzheimer y la enfermedad de Parkinson se convierten en un reto importante para la salud puÌblica en todo el mundo. De esta manera, crece el intereÌs en el desarrollo de faÌrmacos neuroprotectores de origen natural. Por lo tanto, esta revisioÌn sistemaÌtica ha cuantificado los estudios que hacen referencia al potencial neuroprotector de las plantas incluidas en la Lista Nacional BrasilenÌa de Plantas Medicinales de IntereÌs para el Sistema UÌnico de Salud (RENISUS). Las buÌsquedas se realizaron en dos bases de datos cientiÌficas (PubMed y Science Direct) de 2010 a 2016. Un total de 4,532 artiÌculos cumplieron los criterios de inclusioÌn. 445 estudios se consideraron elegibles y se revisaron como texto completo. DespueÌs del anaÌlisis completo, se incluyeron 63 estudios en esta revisioÌn. Los estudios abarcaron 12 de las 71 plantas pertenecientes a RENISUS. AdemaÌs, actualmente hay dos especies disponibles en el sistema de salud puÌblica brasilenÌo como medicina herbaria. Esta revisioÌn puede alentar y contribuir al uso adecuado de las plantas medicinales en el sistema de salud puÌblica.
Assuntos
Plantas Medicinais , Saúde Pública , Fármacos Neuroprotetores , Doenças Neurodegenerativas/tratamento farmacológico , BrasilRESUMO
Resumen El nematodo C. elegans se estableció desde I960, gracias al biólogo sudafricano Sydney Brenner, como un organismo modelo en investigación. Sus cualidades biológicas permiten mejorar la visión y comprensión de patologías en los seres humanos y otros seres pluricelulares; además, sus fenotipos claros y observables lo convierten en un organismo adecuado para el estudio básico de enfermedades neurodegenerativas, inmunológicas y procesos cancerígenos. Objetivo. Analizar las características fenotípicas de la cepa silvestre N2 de C. elegans para su posterior uso como modelo de tamizaje en el laboratorio de Biotecnología y Genética (Universidad Colegio Mayor de Cundinamarca). Materiales y Métodos. El nematodo fue cultivado y crecido en el medio NGM con la cepa E. coli OP50. La cepa N2 fue sincronizada para obtener huevos y posteriormente larvas L1. Se estandarizaron los ensayos de longevidad, reproducción, longitud y estrés térmico. Resultados. La caracterización fenotípica de la cepa N2 de C. elegans presentó: una longevidad de 16 a 22 días, una reproducción promedio de 225 crías, la longitud del nematodo fue de 1100±50 μm y la supervivencia bajo estrés térmico evaluada en las dos etapas de desarrollo del nematodo es muy reducida a 37°C en comparación de 35°C; además, los nematodos fueron más resistentes al primer día de adulto joven en comparación con el sexto día de adulto. Conclusiones. Los resultados aportados por este estudio permiten sugerir que las características fenotípicas del nematodo analizadas se encuentran dentro de lo reportado en la literatura, por lo cual es viable usarlo como como modelo biológico en diferentes ensayos tal como lo reportan otros estudios.
Abstract The nematode C. elegans was established since I960, thanks to the South African biologist Sydney Brenner, as a model organism in research. Their biological qualities allow to improve the vision and understanding of pathologies in human and other multicellular beings; In addition, its clear and observable phenotypes make it a suitable organism for the basic study of neurodegenerative, immunological diseases and carcinogenic processes. Objective. To analyze the phenotypic characteristics of the C. elegans N2 wild strain for later use as a screening model in the Biotechnology and Genetics Laboratory (Colegio Mayor de Cundinamarca University). Materials and Methods. The nematode was grown and grown in the NGM medium with the strain E. coli OP50. The N2 strain was synchronized to obtain eggs and later L1 larvae. The tests of longevity, reproduction, length and thermal stress were standardized. Results. The phenotypic characterization of the N2 strain of C. elegans presented a longevity of 16 to 22 days, an average reproduction of 225 offspring, the length of the nematode was 1100 ± 50 μm and the survival under thermal stress evaluated in the two Development stages of the nematode is greatly reduced at 37 ° C compared to 35 ° C; In addition, nematodes were more resistant to the first day of young adult compared to the sixth day of adulthood. Conclusions. The results of this study suggest that the phenotypic characteristics of the nematode analyzed are within the literature, so it is feasible to use it as a biological model in different trials as reported in other studies.
Assuntos
Humanos , Doenças Neurodegenerativas , Patologia , Alergia e Imunologia , LongevidadeRESUMO
Introducción: El síndrome de ataxia telangiectasia (AT) es una enfermedad genética autosómica recesiva de compromiso multisistémico, con un espectro clínico amplio, ocasionada por la mutación del gen ATM, lo que causa la disminución o ausencia de la proteinkinasa ATM, por lo que se alteran procesos del ciclo celular, reparación del ADN y apoptosis. El objetivo de este artículo es el de reportar el caso de una paciente con síndrome de AT causada por una mutación no reportada previamente en la literatura. Caso clínico: Paciente originaria de Colombia, de 14 años de edad, con manifestaciones clínicas y fenotípicas clásicas del síndrome de AT a partir de los 6 años de edad, con alteración pondoestatural, infecciones respiratorias a repetición, telangiectasias oculocutáneas y compromiso neurológico progresivo, caracterizado por regresión en su desarrollo psicomotor, ataxia y apraxia oculomotora. Se realizó secuenciación del gen ATM que demostró mutación en homocigosis no reportada previamente en la literatura. Discusión: En Latinoamérica son escasos los reportes de pacientes con AT y pocos aquellos en donde se describen los hallazgos moleculares. Los estudios moleculares son una herramienta que facilita el diagnóstico y permite orientar mejor el manejo y pronóstico de pacientes con enfermedades neurodegenerativas. El reporte de variantes moleculares no descritas es de gran importancia para establecer la causa etiológica de este tipo de patologías en grupos poblacionales diversos, como lo son los países de Latinoamérica.
Introduction: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature. Case report: A 14 year-old patient native to Colombia, with classic clinical and phenotypical manifestations of AT syndrome, which started at 6 years of age with pondostatural alteration, recurrent respiratory infections, oculocutaneus telangiectasias and progressive neurological disorder that included: regression in her psychomotor development, ataxia and oculomotor apraxia. ATM gene sequencing is performed evidencing a homozygous mutation not reported in literature. Discussion: In Latin America are sparse the number of reports of patients with ataxia telangiectasia and only few of these describe their molecular findings. Molecular studies allow the diagnosis and a better orientation in the management and prognosis of patients with neurodegenerative diseases. The report of undescribed molecular variants is of great importance to establish the etiology of such diseases in diverse population groups, such as the countries of Latin America.
Assuntos
Humanos , Feminino , Adolescente , Ataxia Telangiectasia/diagnóstico , Ataxia Telangiectasia/genética , Proteínas Mutadas de Ataxia Telangiectasia/genética , Mutação , Marcadores GenéticosRESUMO
Resumen: Introducción: La enfermedad de Alexander consiste en una forma de leucodistrofia poco frecuente que afecta principalmente a los astrocitos; tiene un patrón de herencia autosómica recesiva y es causada por mutaciones en el gen GFAP, localizado en el cromosoma 17q21. Puede presentarse a cualquier edad y la forma infantil se caracteriza por macrocefalia, crisis convulsivas, retraso motor y cognitivo grave y espasticidad o ataxia progresivas. Caso clínico: Paciente de sexo femenino de 8 meses evaluada por retraso psicomotor y crisis convulsivas motoras focales no provocadas. En la exploración física, con perímetro cefálico normal, respuesta motora incrementada ante estímulos táctiles y al ruido, signos piramidales y ausencia de visceromegalias. Se observó hipodensidad generalizada de la sustancia blanca en la resonancia magnética y punción lumbar con hiperproteinorraquia. Se descartó enfermedad de Krabbe mediante ensayo enzimático y secuenciación del gen GALC. En la reevaluación del caso, las alteraciones en la neuroimagen hicieron sospechar de enfermedad de Alexander, y la secuenciación del gen GFAP reportó una mutación en el exón 4 c.716G > A, lo que ocasionó un cambio de arginina por histidina en la posición 239 de la proteína (p.Arg239His). Conclusiones: Los signos radiológicos en la resonancia fueron determinantes para el diagnóstico, que posteriormente se confirmó con estudio molecular. Es importante considerar que ciertas mutaciones no se asocian con macrocefalia, lo cual puede ocasionar retraso en el diagnóstico.
Abstract: Background: Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. Case report: An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G > A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). Conclusions: The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis.
RESUMO
BACKGROUND: Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. CASE REPORT: An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G>A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). CONCLUSIONS: The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis.
RESUMO
Neuropsychiatric symptoms in Alzheimer’s disease (AD) are prevalent, however their relationship with patterns of cortical atrophy is not fully known. Objectives To compare cortical atrophy’s patterns between AD patients and healthy controls; to verify correlations between neuropsychiatric syndromes and cortical atrophy. Method 33 AD patients were examined by Neuropsychiatric Inventory (NPI). Patients and 29 controls underwent a 3T MRI scanning. We considered four NPI syndromes: affective, apathy, hyperactivity and psychosis. Correlations between structural imaging and neuropsychiatric scores were performed by Freesurfer. Results were significant with a p-value < 0.05, corrected for multiple comparisons. Results Patients exhibited atrophy in entorhinal cortices, left inferior and middle temporal gyri, and precuneus bilaterally. There was correlation between affective syndrome and cortical thickness in right frontal structures, insula and temporal pole. Conclusion Cortical thickness measures revealed atrophy in mild AD. Depression and anxiety symptoms were associated with atrophy of right frontal, temporal and insular cortices. .
Os sintomas neuropsiquiátricos na doença de Alzheimer (DA) são prevalentes, porém suas relações com padrões de atrofia cortical não são totalmente compreendidas. Objetivos Comparar padrões de atrofia cortical entre DA e controles; verificar se há correlações entre sintomas neuropsiquiátricos e atrofia cortical. Método 33 pacientes com DA foram examinados pelo Inventário Neuropsiquiátrico. Os pacientes e 29 controles foram submetidos à RNM. Consideramos quatro síndromes: afetiva, apatia, hiperatividade e psicose. Correlações entre imagens estruturais e os scores foram feitas pelo Freesurfer. Os resultados foram significantes com um valor de p < 0,05, corrigido para múltiplas comparações. Resultados Pacientes exibiram atrofia nos córtices entorrinais, giros temporal médio e inferior esquerdos, e precuneo bilateralmente. Houve correlação entre síndrome afetiva e espessura cortical em estruturais frontais direitas, ínsula e polo temporal. Conclusão Medidas de espessura cortical revelaram atrofia na DA. Sintomas de depressão e ansiedade foram associados à atrofia dos córtices frontal direito, temporal e ínsula. .