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Estud. interdiscip. envelhec ; v. 27(n. 1 (2022)): 133-156, jan.2023. ilus
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1426837


Introdução: os comprometimentos do andar em idosos com doença de Parkinson (DP) estão associados à elevada ocorrência de quedas e à redução dos níveis de independência. O objetivo do estudo foi comparar a resposta dos parâmetros do andar em idosos com doença de Parkinson (DP), durante, imediatamente após e até uma hora após o término de uma sessão de treinamento do andar com e sem dicas auditivas rítmicas, utilizando três ritmos diferentes para o grupo dica (10% abaixo da cadência preferida, cadência preferida e 10% acima) e um ritmo diferente para o grupo controle (velocidade usual de cada participante). Métodos: vinte e nove idosos foram aleatoriamente distribuídos em dois grupos: "controle" e "dica". As sessões de intervenção tiveram 30 minutos de duração e a diferença entre os grupos foi a utilização de dicas auditivas rítmicas oferecidas por um metrônomo no grupo dica. O andar foi avaliado antes, durante e até uma hora após a sessão de intervenção. Resultados: os grupos apresentaram desempenhos similares ao longo das avaliações, com aumento do comprimento do passo e redução da variabilidade da duração do passo. Conclusão: a sessão de intervenção com dicas auditivas rítmicas apresentou efeitos similares aos da sessão de treino sem dica para o andar de idosos com DP.(AU)

Introduction: Gait impairments in older people with Parkinson's disease (PD) are associated with a high occurrence of falls and reduced levels of patients' independence. The objective of the study was to compare the response of gait parameters in older people with Parkinson's disease (PD), during, immediately after, and up to 1h after the end of a single locomotion training session with and without rhythmic auditory cues, using 3 different rhythms for the tip group (10% below the preferred cadence, preferred cadence and 10% above) and 1 different rhythm for the control group (usual speed of each participant). Materials and method: 29 older people were randomly assigned to two groups: Control and "Cue". The intervention sessions lasted 30 minutes and the difference between the groups was the use of rhythmic auditory cues offered by a metro-nome in the Cue group. Gait was assessed before, during, and up to 1 hour after the intervention session. Results: The groups showed similar performances throughout the assessments, with increased step length and reduced step time variability in response to the intervention (compared to the baseline assessment). Conclusion: The intervention session with rhythmic auditory cues had similar effects on gait as the session without cues in older people with PD.(AU)

Male , Female , Aged , Aged, 80 and over , Parkinson Disease , Aging , Neurodegenerative Diseases , Locomotion
Alerta (San Salvador) ; 6(1): 78-85, ene. 30, 2023.
Article in Spanish | BISSAL, LILACS | ID: biblio-1413719


Como parte de las terapias alternativas para el control de síntomas refractarios en enfermedades avanzadas destaca el uso de cannabidiol. Este se ha estudiado en patologías como enfermedad de Alzheimer, Parkinson y trastornos convulsivos. Los síndromes convulsivos están presentes en todos los grupos etarios. Dentro de este, la epilepsia es refractaria hasta en un 40 % de los pacientes, quienes han demostrado disminución en la frecuencia de convulsiones con el uso concomitante de cannabidiol y antiepilépticos convencionales, con efectos secundarios leves, como diarrea y somnolencia. Con el objetivo de determinar el uso del cannabidiol para el control de síntomas neurológicos refractarios en pacientes con síndromes convulsivos y enfermedades neurodegenerativas, se realizó una búsqueda bibliográfica en Pubmed, Scopus y Embase. Se incluyeron metaanálisis, artículos originales, revisiones sistemáticas y bibliográficas, y documentos de la Organización Panamericana de la Salud, publicados entre 2017 y 2022. Los efectos del cannabidiol lo convierten en una alternativa, adicional a la terapéutica convencional, para el control de síntomas en trastornos neurológicos, disminuyendo de forma sostenida el número total de episodios con un perfil de seguridad aceptable. Existe limitada información respecto al uso de cannabidiol en enfermedades neurodegenerativas, por lo que no se ha evidenciado su efectividad

As part of the alternative therapies for the control of refractory symptoms in advanced diseases, the use of cannabidiol stands out. It has been studied in pathologies such as Alzheimer's disease, Parkinson's disease, and convulsive disorders. Convulsive syndromes are present in all age groups. Within this group, epilepsy is refractory in up to 40 % of patients, who have shown a decrease in the frequency of seizures with the concomitant use of cannabidiol and conventional antiepileptics, with mild side effects such as diarrhea and drowsiness. To determine the use of cannabidiol for the control of refractory neurological symptoms in patients with seizure syndromes and neurodegenerative diseases, a literature search was performed in PubMed, Scopus, and Embase. Meta-analyses, original articles, systematic and literature reviews, and documents from the Pan American Health Organization, published between 2017 and 2022, were included. The effects of cannabidiol make it an alternative, in addition to conventional therapeutics, for symptom control in neurological disorders, sustainably decreasing the total number of episodes with an acceptable safety profile. There is limited information regarding the use of cannabidiol in neurodegenerative diseases, the reason its effectiveness has not been demonstrated.

Seizures , Syndrome , Cannabidiol , Neurodegenerative Diseases , Anticonvulsants , Nervous System Diseases
Braz. J. Pharm. Sci. (Online) ; 59: e22381, 2023. tab, graf
Article in English | LILACS | ID: biblio-1439529


Abstract Acai (Euterpe oleracea Mart.) and guarana (Paullinia cupana Kunth) are native species from the Amazon Forest that in folk medicine are used to treat several diseases due to their anti-inflammatory and antioxidant properties. This review brings together findings from different studies on the potential neuroprotective effects of acai and guarana, highlighting the importance of the conservation and sustainable exploitation of the Amazon Forest. A bibliographic survey in the PubMed database retrieved indexed articles written in English that focused on the effects of acai and guarana in in vitro and in vivo models of neurodegenerative diseases. In general, treatment with either acai or guarana decreased neuroinflammation, increased antioxidant responses, ameliorated depression, and protected cells from neurotoxicity mediated by aggregated proteins. The results from these studies suggest that flavonoids, anthocyanins, and carotenoids found in both acai and guarana have therapeutic potential not only for neurodegenerative diseases, but also for depressive disorders. In addition, acai and guarana show beneficial effects in slowing down the physiological aging process. However, toxicity and efficacy studies are still needed to guide the formulation of herbal medicines from acai and guarana.

Amazonian Ecosystem , Paullinia/adverse effects , Euterpe/adverse effects , Fruit/classification , In Vitro Techniques/methods , Neuroprotective Agents/classification , Neurodegenerative Diseases/pathology , Anti-Inflammatory Agents/pharmacology , Antioxidants/pharmacology
Biomédica (Bogotá) ; 42(4): 623-632, oct.-dic. 2022. tab, graf
Article in English | LILACS | ID: biblio-1420311


Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colombia. Despite its unknown etiopathogenesis, more genetic risk factors possibly involved in the development of this disease are constantly found. Objetives: To evaluate G93A and D90A mutations in SOD1 gene and a short tandem repeat in C9orf72 within a cohort of amyotrophic lateral sclerosis patients from Antioquia, Colombia. Materials y methods: Thirty-four patients previously diagnosed with amyotrophic lateral sclerosis were included in the study. Peripheral blood samples were used for DNA extraction and genotyping. Results: No mutations were found in SOD1 (G93A and D90A) in any of the patients, while C9orf72 exhibited an allele with a statistically significant high prevalence in the study sample (8 hexanucleotide repeats of CAGCAG). Conclusions: These results suggest an association between this short tandem repeat (STR) in C9orf72 and the presence of amyotrophic lateral sclerosis in the studied population. However, this association should be established in a larger sample size and with controls from the same population. In addition, there also seems to be a genetic anticipation effect for the disease regarding this locus, since patients with this genotype present an earlier onset.

Introducción. La esclerosis lateral amiotrófica es una enfermedad neurodegenerativa con un posible origen multifactorial, caracterizado por una degeneración progresiva de las neuronas motoras. Hay una gran prevalencia relativa de esta enfermedad en Antioquia; sin embargo, no hay publicaciones de estudios genéticos en Colombia. A pesar de su etiopatogénesis desconocida, hay varios factores de riesgo genético que se encuentran constantemente en el desarrollo de esta enfermedad. Objetivo. Evaluar las mutaciones G93A y D90A del gen SOD1 y una repetición corta en tándem (Short Tandem Repeat, STR) en el locus C9orf72, en una cohorte de pacientes con esclerosis lateral amiotrófica en Antioquia, Colombia. Materiales y métodos. Se incluyeron 34 pacientes previamente diagnosticados en el estudio. Una muestra de sangre periférica se usó para extraer el ADN y, posteriormente, genotipificarlo. Resultados. No se encontraron mutaciones en el gen SOD1 (G93A y D90A), mientras que el C9orf72 exhibe un alelo con una significativa prevalencia en los pacientes del estudio (8 repeticiones del hexanucleótido G4C2). Conclusiones. Se sugiere una asociación entre la repetición en tándem en C9orf72 y la presencia de la esclerosis lateral amiotrófica en la población estudiada. Sin embargo, se sugiere hacer estudios adicionales e incluir un grupo control de la misma población. Además, se detecta un fenómeno de anticipación genética de la enfermedad, dado que los pacientes con el alelo de 8 repeticiones en C9orf72 presentan una edad temprana de aparición de los síntomas.

Amyotrophic Lateral Sclerosis/genetics , Mutation , Neurodegenerative Diseases , Genes
J. Health Biol. Sci. (Online) ; 10(1): 1-10, 01/jan./2022. tab, ilus
Article in Portuguese | LILACS | ID: biblio-1411330


Objetivo: descrever a atividade de inibição da enzima acetilcolinesterase (AChE), por meio de ativos extraídos de alcaloides naturais. Metodologia: este estudo se configura como uma revisão sistemática da literatura, no período de janeiro de 2015 a setembro de 2021, nas bases de dados PUBMED, LILACS e SCIENCE DIRECT, com os descritores Acetylcholinesterase; Alzheimer; Alkaloids. As informações obtidas foram tabuladas para avaliação dos alcaloides inibidores da acetilcolinesterase. Resultados: de 563 artigos encontrados, 17 foram utilizados. Dois deles relataram a atividade de alcaloides inibidores da AChE por meio de ensaios clínicos, enquanto os demais a realizaram por testes in vitro. De 160 substâncias estudadas, 48 apresentaram atividade anticolinesterásica, as quais foram avaliadas de acordo com a sua concentração inibitória média (IC50). Discussão: a eficiência dos alcaloides como inibidores da AChE, provavelmente está relacionada com sua carga positiva no pH do organismo e sua boa biodisponibilidade, tendo como consequência uma atividade duradoura in vivo, em comparação com os medicamentos sintéticos. Conclusão: no presente estudo, foi possível observar uma grande diversidade de substâncias alcalóidicas antiAChE. Contudo, torna-se necessária a realização de mais ensaios in vivo e in vitro para a constatação efetiva da atividade dessas moléculas.

Objective: describe the activity of the enzyme Acetylcholinesterase (AChE) through natural actives extracted from alkaloids. Methodology: this study is a systematic literature review, from January 2015 to September 2021, in the PUBMED, LILACS, and SCIENCE DIRECT databases, with the descriptors Acetylcholinesterase; Alzheimer's; Alkaloids. The information obtained was tabulated for the evaluation of Acetylcholinesterase inhibitor alkaloids. Results: of 563 articles found, 17 were used. Two of them reported the activity of AChE-inhibiting Alkaloids through clinical trials, while the others performed it through in vitro tests. Of 160 substances studied, 48 showed anticholinesterase activity, which was evaluated according to their mean inhibitory concentration (IC50). Discussion: the efficiency of Alkaloids as AChE inhibitors is probably related to their positive charge on the body's pH and their good bioavailability, resulting in a long-lasting activity in vivo compared to synthetic drugs. Conclusion: in the present study, it was possible to observe a great diversity of antiAChE alkaloid substances. However, it is necessary to carry out more in vivo and in vitro tests to verify the effective activity of these molecules.

Alkaloids , Alzheimer Disease , Acetylcholinesterase , Therapeutics , Cholinesterases , Neurodegenerative Diseases , PubMed , Alkalies , Synthetic Drugs
J. Health Biol. Sci. (Online) ; 10(1): 1-11, 01/jan./2022.
Article in Portuguese | LILACS | ID: biblio-1411584


Objetivos: Apresentar as características gerais da DH e os principais desafios encarados no cotidiano pelos portadores. Método: foi realizada uma revisão de literatura na qual foram considerados artigos científicos embasados em banco de dados (PubMed, Scielo, Lilacs e diretório Google Acadêmico), artigos entre anos de 2007 a 2022, publicados em todos os idiomas, e aplicados os seguintes descritores: Huntington's Disease Treatment; Genetics foram incluídos. Resultado: após a inclusão de 21 artigos utilizados, foi observado a significância de elevado índice mundial da DH, que acomete população em geral, porém há probabilidade que seja mais de herança paterna do que materna, devido à formação dos espermatozoides, principalmente quando se manifestam na fase juvenil de forma acelerada. Embora sejam desvendadas alternativas para terapia paliativa medicamentosa, há, também, a terapia física, o que auxilia a possibilidade de evolução na saúde desses indivíduos. Porém, prosseguem as pesquisas relacionadas às condutas melhores na qualidade de vida dessa população. Conclusão: Esta revisão evidencia a importância para doenças neurodegenerativas pouco vistas e comentadas, como a DH, mas que carece de esclarecimentos que auxiliem, com eficácia, tanto na recuperação, como no processo de habilidades da existência desses portadores com DH.

Objectives: to present the general characteristics of HD and the main challenges faced in daily life by patients. Method: a literature review was conducted in which scientific articles were considered based on databases (PubMed, Scielo, Lilacs, and Google Scholar directory), articles between 2007 and 2022, published in all languages, and the following descriptors were applied: Huntington's Disease Treatment; Genetics were included. Result: after the inclusion of 21 articles, it was observed the significance of the high worldwide HD index, which affects the general population, but there is a probability that it is more paternal than maternal inheritance due to sperm formation, especially when they manifest in the juvenile phase in an accelerated manner. Although alternatives for palliative drug therapy are unveiled, there is also physical therapy, which helps the possibility of evolution in the health of these individuals. However, the researches related to the best conducts in the quality of life of this population continue. Conclusion: this review highlights the importance of little-seen and commented neurodegenerative diseases, such as HD, but that lacks clarification that effectively assists, both in recovery and in the process of abilities of the existence of these patients with HD.

Huntington Disease , Huntingtin Protein , Quality of Life , Health , Prevalence , Neurodegenerative Diseases , PubMed
Rev. cuba. hematol. inmunol. hemoter ; 38(2): e1602, abr.-jun. 2022. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1408459


Introducción: Las alteraciones en el estado redox celular se han descrito como factores causales en diversas enfermedades. La depleción del glutatión reducido se ha asociado fundamentalmente a enfermedades neurodegenerativas, pulmonares, hepáticas, cardiovasculares e inmunológicas. Objetivo: Determinar las concentraciones de glutatión reducido y el estado redox celular en pacientes pediátricos con inmunodeficiencias. Métodos: Se estudiaron 21 pacientes con inmunodeficiencias procedentes de la consulta de Inmunogenética, en edades comprendidas entre 1 y 8 años, de ambos sexos, y 8 niños en el mismo rango de edad de los pacientes, como grupo control, con estudios de inmunidad humoral y celular normales. Los pacientes con diagnóstico de inmunodeficiencia se dividieron para su estudio en 2 grupos según el componente afectado de la respuesta inmune: humoral y celular. Fueron determinadas las concentraciones intraeritrocitarias de glutatión reducido y oxidado, mediante un método de HPLC-UV. Para evaluar el estado redox celular se calculó la relación entre las formas reducidas y oxidadas del glutatión (GSH/GSSG). Resultados: Las concentraciones de glutatión reducido y el estado redox celular se encontraron disminuidos en ambos grupos de pacientes en relación con los niños sin inmunodeficiencia (p=0,031 y p=0,03; respectivamente). El glutatión oxidado no mostró diferencias entre los grupos. Conclusiones: En los pacientes con inmunodeficiencia se evidenció la afectación del estado redox celular como consecuencia de la disminución del glutatión reducido. Este primer acercamiento ofreció las potencialidades del empleo de estos biomarcadores en la evaluación integral de pacientes con inmunodeficiencia(AU)

Introduction: Alterations in the cellular redox state have been described as causal factors in various diseases. Reduced glutathione depletion has been fundamentally associated with neurodegenerative, pulmonary, liver, cardiovascular and immunological diseases. Objective: To determine the concentrations of reduced glutathione and the cellular redox status in pediatric patients with immunodeficiencies. Methods: We studied 21 patients with immunodeficiencies from the immunogenetic service, aged between 1 and 8 years and as a control group, 8 children in the same age range as the patients, with normal humoral and cellular immunity studies. Patients diagnosed with immunodeficiency were divided into two groups according to the affected component of the immune response: humoral and cellular. The intraerythrocyte concentrations of oxidized and reduced glutathione were determined by means of an HPLC-UV method. To evaluate the cellular redox state, the relationship between the reduced and oxidized forms of glutathione (GSH/GSSG) was calculated. Results: Reduced glutathione concentrations and cellular redox status were found to be decreased in both groups of patients in relation to children without immunodeficiency (p=0,031 and p=0,03; respectively). Oxidized glutathione showed no difference between the groups. Conclusions: In patients with immunodeficiency, the cellular redox state is affected as a consequence of the decrease in reduced glutathione. This first approach offers the potential for the use of these biomarkers in the comprehensive evaluation of patients with immunodeficiency(AU)

Humans , Infant , Child, Preschool , Child , Biomarkers , Chromatography, High Pressure Liquid , Neurodegenerative Diseases , Glutathione/analysis , Immunogenetics , Immune System Diseases , Control Groups , Glutathione Disulfide
Int. j. high dilution res ; 21(1): 29-30, May 6, 2022.
Article in English | LILACS, HomeoIndex | ID: biblio-1396556


Theliteratureassociatesoxidativestresswiththeproductionoffreeradicals,whichleadtoneurodegeneration.Theypresentinnumerablehypotheses,amongwhichareabnormalitiesinthefunctioningofthehypothalamic-pituitary-adrenalaxis,neurotoxiceffectsandneuronaloxidativedamage.ClinicalobservationhasshownthatinneurodegenerativediseasessuchasMultipleSclerosis(MS)andAmyotrophicLateralSclerosis(ALS)thereisareportofprolonged or violent emotionalstressprecedingthesymptoms.Aims:UsingtheCarilloComplexSystemsModel,presentsomepossibilitiesonhowstresscancontributetoneurodegeneration.Methodology:NinecasesofALSandsixcasesofMSwereevaluated,pathologiesalreadyclassifiedasbelongingtosyphilinism.Literaturereviewonstressandneurotoxicitycarriedout.Resultsanddiscussion:Syphilinism is instability with a predominantly intrinsicorigin to the system with a chronic caracter.This diathesis is characterized by a dissipative deficiency, predominantly hepatic, to the processing of certain elements or potentially toxic substances with exogenous origin or endogenous Such non-processed substances are unstable factors in the system, with greater affinity for certain tissues,like the nervous system. Among the toxins, we find alcohol, esters, formaldehyde, aloe, ketones, aldehydes, etc. The final hepatic metabolism of cortisol results in cortic acids and cortol, which use the same enzymatic system as alcohol, and can be considered syphilinic toxins. Ethanol can act directly at the circadian rhythm, disrupting it and generating stressful substances such as cortisol, regardless of an external event, increasing the toxin level. The inflammatory process generated by the production of free radicals and metabolic abnormalities, including the reduction of neuropeptide Y that modulates inflammatory activity in the nervous system, leads to changes that can result in neurodegeneration. Conclusion: Inflammation caused by toxins from prolonged/violent emotional stress can lead to several changes in syphilinic individuals, due to failure in the dissipative process, including neurodegeneration.

Stress, Psychological/complications , Syphilinism in Homeopathy , Neurodegenerative Diseases/prevention & control , Neurotoxicity Syndromes/therapy
Arq. neuropsiquiatr ; 80(2): 180-191, Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364366


ABSTRACT Structural imaging of the brain is the most widely used diagnostic tool for investigating neurodegenerative diseases. More advanced structural imaging techniques have been applied to early or prodromic phases, but they are expensive and not widely available. Therefore, it is highly desirable to search for noninvasive, easily accessible, low-cost clinical biomarkers suitable for large-scale population screening, in order to focus on making diagnoses at the earliest stages of the disease. In this scenario, imaging studies focusing on the structures of the retina have increasingly been used for evaluating neurodegenerative diseases. The retina shares embryological, histological, biochemical, microvascular and neurotransmitter similarities with the cerebral cortex, thus making it a uniquely promising biomarker for neurodegenerative diseases. Optical coherence tomography is a modern noninvasive imaging technique that provides high-resolution two-dimensional cross-sectional images and quantitative reproducible three-dimensional volumetric measurements of the optic nerve head and retina. This technology is widely used in ophthalmology practice for diagnosing and following up several eye diseases, such as glaucoma, diabetic retinopathy and age-related macular degeneration. Its clinical impact on neurodegenerative diseases has raised enormous interest over recent years, as several clinical studies have demonstrated that these diseases give rise to reduced thickness of the inner retinal nerve fiber layer, mainly composed of retinal ganglion cells and their axons. In this review, we aimed to address the clinical utility of optical coherence tomography for diagnosing and evaluating different neurodegenerative diseases, to show the potential of this noninvasive and easily accessible method.

RESUMO A avaliação estrutural do cérebro, feita por meio dos exames de neuroimagem, é a forma mais utilizada de ferramenta diagnóstica e de acompanhamento das doenças neurodegenerativas. Técnicas de imagem mais sofisticadas podem ser necessárias especialmente nas fases mais precoces, antes mesmo do surgimento de quaisquer sintomas, porém costumam ser caras e pouco acessíveis. Sendo assim, é de fundamental importância a busca de biomarcadores não invasivos, de fácil acesso e baixo custo, que possam ser utilizados para rastreio populacional e diagnóstico mais precoce. Nesse cenário, o número de estudos com ênfase em técnicas de imagem para avaliação estrutural da retina em pacientes com doenças neurodegenerativas tem aumentado nos últimos anos. A retina apresenta similaridade embriológica, histológica, bioquímica, microvascular e neurotransmissora com o córtex cerebral, tornando-se assim um biomarcador único e promissor nas doenças neurodegenerativas. A tomografia de coerência óptica é uma moderna técnica de imagem não invasiva que gera imagens seccionais bidimensionais de alta resolução e medidas volumétricas tridimensionais reprodutivas do disco óptico e da mácula. Essa tecnologia é amplamente utilizada na prática oftalmológica para o diagnóstico e o seguimento de diversas doenças oculares, como glaucoma, retinopatia diabética e degeneração macular relacionada à idade. A redução da espessura da camada de fibras nervosas da retina e das camadas de células ganglionares em pacientes com doenças neurodegenerativas foi demonstrada em diversos estudos clínicos nos últimos anos. Nesta revisão, abordamos as principais aplicações clínicas da tomografia de coerência óptica nas doenças neurodegenerativas e discutimos o seu papel como potencial biomarcador nessas afecções.

Humans , Neurodegenerative Diseases/pathology , Neurodegenerative Diseases/diagnostic imaging , Tomography, Optical Coherence/methods , Retina/pathology , Retina/diagnostic imaging
Arq. neuropsiquiatr ; 80(1): 37-42, Jan. 2022. tab
Article in English | LILACS | ID: biblio-1360128


ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 "Arbor day" and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.

RESUMEN Antecedentes: La demencia frontotemporal (DFT) es una enfermedad neurodegenerativa y es una de las causas más comunes de demencia en personas menores de 65 años. A menudo existe un retraso significativo en el diagnóstico, ya que la FTD puede confundirse con otras afecciones psiquiátricas. La falta de conocimientos sobre la DFT por parte de los profesionales de salud es una posible causa de esta confusión diagnóstica. Objetivos: El presente estudio describe nuestros esfuerzos para adaptar y validar la Escala de Conocimiento de la Demencia Frontotemporal (FTDKS) en español. Métodos: Se realizó una traducción, siguiendo las pautas de adaptación transcultural, que consistió en una traducción directa, una traducción inversa ciega y un análisis por parte de un comité de expertos. Para el presente estudio, 134 profesionales de diferentes áreas de la salud respondieron la versión en español del FTDKS. El análisis estadístico se realizó utilizando la versión 4.0.0 de R "Arbor day" y los paquetes Psych, sjPlot. Resultados: La versión en español del FTDKS tiene una buena fiabilidad y consistencia interna (alfa de Cronbach 0,74.). La puntuación media de la muestra fue de 19,78 (rango = 4-32, SD 6,3) sobre un máximo de 36 puntos. Conclusiones: Los resultados obtenidos muestran que la versión española tiene buenas propiedades psicométricas. El FTDKS es aplicable en nuestro medio y puede ser una herramienta útil para evaluar los conocimientos de los profesionales sanitarios sobre la demencia frontotemporal.

Humans , Neurodegenerative Diseases , Frontotemporal Dementia/diagnosis , Psychometrics , Translations , Surveys and Questionnaires , Reproducibility of Results , Delayed Diagnosis
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1398833


Objetivo: apresentar o estado da arte das publicações expressas na literatura cientifica mundial sobre a temática, bem como identificar os benefícios terapêuticos da Cannabis medicinal no tratamento dos sintomas das doenças neurodegenerativas especificamente doenças de Parkinson, esclerose múltipla e Alzheimer. Método: trata-se de uma revisão integrativa da literatura, cuja busca de dados foi realizada nas bibliotecas virtuais. Web of Science, Scopus, Medline, Lilacs, Cochrane Library e Scielo no período de agosto a outubro de 2021. Resultados: foram encontrados 158 artigos. Vinte e tres artigos foram selecionados para serem lidos na íntegra e 8 atenderam aos critérios desta revisão. Conclusão: as evidências mostram que embora cada vez mais prescritos ou autorizados, a cannabis medicinal ou os Canabinóides para a doenças neurodegenerativas continuam a ser controversos para muitos médicos.

Objective: to present the state of the art of publications expressed in the world Scientific literature on the subject, as well as to identify the therapeutic benefits of medicinal cannabis in the treatment of neurodegenerative diseases, specifically, Parkinson's diseases, multiple sclerosis and Alzheimer's. Method: this is an integrative literature review, whose data search was performed in virtual librares. Web of Science, Scopus, Medline, Lilacs, Cochrane Library and Scielo from August to October 2021. Results:158 articles were found. Twenty-three articles were selected to be read in full and 8 met the criteria of this review. Conclusion: evidence shows that although increasingly prescribed or authorized, medical cannabis or Cannabinoids for chronic pain remain controversial for many physicians.

Objetivo: presentar el estado del arte de las publicaciones expresadas en la literatura científica mundial sobre el tema, así como identificar los beneficios terapéuticos del cannabis medicinal en el tratamiento de enfermedades neurodegenerativas, en concreto, las enfermedades de Parkinson, la esclerosis múltiple y el Alzheimer. Método: se trata de una revisión integradora de la literatura, cuya búsqueda de datos se realizó en bibliotecas virtuales. Web of Science, Scopus, Medline, Lilacs, Cochrane Library y Scielo de agosto a octubre de 2021. Resultados: se encontraron 158 artículos. Se seleccionaron veintitrés artículos para ser leídos en su totalidad y ocho cumplieron los criterios de esta revisión. Conclusión: la evidencia muestra que, aunque cada vez más se prescribe o autoriza, el cannabis medicinal o los cannabinoides para el dolor crónico siguen siendo controvertidos para muchos médicos.

Humans , Male , Female , Cannabinoids/therapeutic use , Cannabis/drug effects , Neurodegenerative Diseases/drug therapy , Medical Marijuana , Parkinson Disease/therapy , Chronic Pain/therapy , Multiple Sclerosis/therapy
Diaeta (B. Aires) ; 40(177): 160-173, 2022.
Article in Spanish | LILACS-Express | LILACS, UNISALUD, BINACIS | ID: biblio-1430282


Resumen Introducción: los avances tecnológicos permitieron prolongar la expectativa de vida, incrementando la prevalencia de patologías crónicas como las enfermedades neurodegenerativas (EN), entre ellas la enfermedad de Alzheimer, la enfermedad de Parkinson y, la esclerosis lateral amiotrófica y la esclerosis múltiple. Estas generan dependencia, fragilidad, deterioro de la calidad de vida y modifican el proceso de morir lo que se traduce en el surgimiento de nuevos escenarios que requieren del enfoque integral aportado por los cuidados paliativos (CP). Objetivos: describir el rol del licenciado en Nutrición (LN) dentro del equipo de CP en el abordaje de las EN y establecer la relevancia de la toma de decisiones anticipadas de manera temprana. Materiales y método: se realizó una revisión narrativa con artículos científicos; acotando la búsqueda desde 2010 hasta el 2022, utilizando las bases de datos: Medline y Google Académico. Resultados: el rol del LN es relevante en el equipo de CP, contribuyendo principalmente en el acompañamiento familiar, la evaluación del estado nutricional y el tratamiento de síntomas. A su vez, es quien debe asesorar al paciente, de forma precoz, en la toma de decisiones anticipadas con respecto a su alimentación e hidratación en etapas avanzadas de la enfermedad; con el fin de evitar conflictos de carácter bioético tanto dentro del equipo como con la familia. Conclusiones: la participación del LN en los equipos de CP permite la atención integral del paciente con lo cual, actualmente es un desafío fomentar su incorporación y continuar con la elaboración de guías de trabajo que enmarquen sus incumbencias(AU)

Abstract Introduction: technological advances have made it possible to prolong life expectancy, increasing the prevalence of chronic pathologies, such as neurodegenerative diseases (ND): Alzheimer's, Parkinson's, Amyotrophic Lateral Sclerosis, and Multiple Sclerosis. These diseases generate dependency, fragility, deterioration of life quality and modify the process of dying, bringing about the emergence of new scenarios that require a comprehensive approach, such as the one provided by Palliative Care (PC). Objectives: to describe the role of dietitians in the PC team when addressing ND and establishing the importance of early decision-making. Materials and method: a narrative revision with scientific articles was carried out, narrowing down the search from 2010 to 2022, utilizing Medline and Google Scholar databases. Results: the role of dietitians is relevant in the PC team, contributing mainly to family support, nutritional status assessment, and symptoms treatment. Additionally, the dietitians are the ones who must advise the patient earlier on anticipated decisions concerning feeding and hydration techniques in advanced stages of the disease to avoid conflicts of a bioethical nature not only within the team but also with the family. Conclusions: the participation of dietitians in PC teams allows an integral care of the patient, with which it is currently a challenge to promote their incorporation and continue with the elaboration of work guidelines that frame their responsibilities(AU)

Palliative Care , Neurodegenerative Diseases , Nutritionists
African Health Sciences ; 22(3): 211-221, 2022-10-26. Figures, Tables
Article in English | AIM | ID: biblio-1401126


Background: Many previous studies on orbito-ocular lesions are skewed in favour of the neoplastic lesions in general and the malignant lesions in particular. This, therefore, creates a vacuum on the spectrum of these lesions, thus may result in problematic diagnostic bias by the ophthalmologist and pathologist. Objective: To give the spectrum and relative frequencies of orbito-ocular biopsies and by extension orbito-ocular lesions/diseases at the University of Benin Teaching Hospital (UBTH). Materials and Methods: A retrospective descriptive study of all cases of orbito-ocular biopsies with histopathologic diagnosis. Results: There were 236 orbito-ocular biopsies. The male to female ratio was slightly in favour of the females. Orbito-ocular biopsies had a wide age range that spanned from the 1st to 10th decade, mean age in the 3rd decade (20-29years) and a peak age in the 1st decade (0-9 years). The neoplastic lesions were the prevalent indication for orbito-ocular biopsies (63.72%) while the conjunctiva (58.10%) was the most common site for orbito-ocular biopsies. Conclusion: This study noted a wide array of orbito-ocular lesions for which biopsies were done for histopathological diagnosis. This we hope will in no small measure increase the diagnostic precision of the ophthalmologist and the pathologists in our own environment

Ophthalmic Artery , Optic Nerve Diseases , Optic Nerve Glioma , Ophthalmologists , Pathologists , Neoplastic Processes , Biopsy , Neoplasm, Residual , Neurodegenerative Diseases
Article in Chinese | WPRIM | ID: wpr-928432


OBJECTIVE@#To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.@*METHODS@#Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.@*RESULTS@#The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.@*CONCLUSION@#The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.

Child , Humans , Infant , Male , Ataxia/genetics , Atrophy/genetics , Cell Cycle Proteins/genetics , Cytoskeletal Proteins/genetics , Mitochondrial Myopathies , Mutation , Neurodegenerative Diseases , Exome Sequencing
Article in Chinese | WPRIM | ID: wpr-928416


Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which is associated with genetic and environmental factors, though the pathogenesis is still unclear and there is also a lack of effective treatment. With the rapid advance of genetic testing techniques, over 30 genes have been associated with the disease. Some ALS patients harboring genetic variants may present unique clinical characteristics and particular mode of inheritance, but the correlation between genotype and phenotype is still not very clear. Studies have shown that research on the pathogenic genes of ALS is important for the diagnosis and selection of potential drug targets. Here the pathogenic genes of ALS, in particular the newly discovered genes, and their underlying mechanisms are reviewed. The necessity of genetic testing for ALS patients is also stressed.

Humans , Amyotrophic Lateral Sclerosis/genetics , Genetic Testing , Genotype , Neurodegenerative Diseases/genetics , Phenotype
Article in Chinese | WPRIM | ID: wpr-928025


This study aimed to explore the anti-depressant components of Rehmanniae Radix and its action mechanism based on network pharmacology combined with molecular docking. The main components of Rehmanniae Radix were identified by ultra-high performance liquid chromatography-quadrupole/Orbitrap high resolution mass spectrometry(UPLC-Q-Orbitrap HRMS), and the related targets were predicted using SwissTargetPrediction. Following the collection of depression-related targets from GeneCards, OMIM and TTD, a protein-protein interaction(PPI) network was constructed using STRING. GO and KEGG pathway enrichment analysis was performed by Metascape. Cytoscape 3.7.2 was used to construct the networks of "components-targets-disease" and "components-targets-pathways", based on which the key targets and their corresponding components were obtained and then preliminarily verified by molecular docking. Rehmanniae Radix contained 85 components including iridoids, ionones, and phenylethanoid glycosides. The results of network analysis showed that the main anti-depressant components of Rehmanniae Radix were catalpol, melittoside, genameside C, gardoside, 6-O-p-coumaroyl ajugol, genipin-1-gentiobioside, jiocarotenoside A1, neo-rehmannioside, rehmannioside C, jionoside C, jionoside D, verbascoside, rehmannioside, cistanoside F, and leucosceptoside A, corresponding to the following 16 core anti-depression targets: AKT1, ALB, IL6, APP, MAPK1, CXCL8, VEGFA, TNF, HSP90 AA1, SIRT1, CNR1, CTNNB1, OPRM1, DRD2, ESR1, and SLC6 A4. As revealed by molecular docking, hydrogen bonding and hydrophobicity might be the main action forms. The key anti-depression targets of Rehmanniae Radix were concentrated in 24 signaling pathways, including neuroactive ligand-receptor interaction, neurodegenerative disease-multiple diseases pathway, phosphatidylinositol 3-kinase/protein kinase B pathway, serotonergic synapse, and Alzheimer's disease.

Humans , Drugs, Chinese Herbal/pharmacology , Molecular Docking Simulation , Network Pharmacology , Neurodegenerative Diseases , Plant Extracts , Rehmannia
Acta Physiologica Sinica ; (6): 283-293, 2022.
Article in Chinese | WPRIM | ID: wpr-927604


With the acceleration of the aging society, neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD), have become a rapidly growing global health crisis. Recent studies have indicated that microglia-neuron interactions are critical for maintaining homeostasis of the central nervous system. Genome-Wide Association Studies and brain imaging studies have suggested that microglia are activated in early stage of neurodegenerative diseases. Microglia are specialized phagocytes in the brain. The discovery of a new phagocytic pathway, trogocytosis, suggests that there is a close interaction between microglia and surviving neurons. In this review, we summarize the important roles of microglia in neurodegenerative diseases, and further analyze the functions and molecular mechanisms of microglia phagocytosis and trogocytosis.

Humans , Alzheimer Disease , Genome-Wide Association Study , Microglia/metabolism , Neurodegenerative Diseases , Phagocytosis/physiology
Neuroscience Bulletin ; (6): 809-819, 2022.
Article in English | WPRIM | ID: wpr-939834


Alzheimer's disease (AD) is the most prevalent neurodegenerative disease featuring progressive cognitive impairment. Although the etiology of late-onset AD remains unclear, the close association of AD with apolipoprotein E (APOE), a gene that mainly regulates lipid metabolism, has been firmly established and may shed light on the exploration of AD pathogenesis and therapy. However, various confounding factors interfere with the APOE-related AD risk, raising questions about our comprehension of the clinical findings concerning APOE. In this review, we summarize the most debated factors interacting with the APOE genotype and AD pathogenesis, depict the extent to which these factors relate to APOE-dependent AD risk, and discuss the possible underlying mechanisms.

Humans , Alzheimer Disease/pathology , Apolipoprotein E4/genetics , Apolipoproteins E/genetics , Genotype , Lipid Metabolism , Neurodegenerative Diseases , Risk Factors
Article in Chinese | WPRIM | ID: wpr-939652


Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.

Humans , Demyelinating Diseases , High-Throughput Nucleotide Sequencing , Myelin Sheath , Neurodegenerative Diseases , Phenotype
Rev. odontopediatr. latinoam ; 12(1): 421299, 2022. ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1426669


El Síndrome de Hallervorden-Spatz es una afección neurodegenerativa rara, autosómica recesiva, caracterizada por depósitos en gran cantidad de hierro en los ganglios de base, lo que ocasiona gran pérdida motora y mental. Presenta dos formas de manifestación: la clásica, que aparece en la infancia a lo largo de la primera década de vida, y la atípica, cuyas manifestaciones clínicas aparecen de forma tardía, entre la segunda y tercera décadas de vida. El objetivo del presente estudio es describir un caso clínico de tratamiento endodóntico, en ambulatorio, de una paciente del sexo femenino, de 28 años, con manifestaciones clásicas de dicho síndrome, con cambio de color en el elemento 11 y lesión periapical, que justifica la indicación de endodoncia. La atención odontológica de una enfermedad neurodegenerativa rara, realizada en forma ambulatoria, requiere el conocimiento del dentista para que se conduzca de forma eficiente y segura

A síndrome de Hallervorden-Spatz é uma afecção neurodegenerativa rara, autossômica recessiva, caracterizada por depósitos em grande quantidade de ferro nos gânglios de base, o que ocasiona grande perda motora e mental. Apresenta duas formas de manifestações: a clássica, que surge na infância na primeira década de vida; e a atípica, cujas manifestações clínicas surgem mais tardiamente, entre a segunda e terceira décadas de vida. O objetivo desse estudo foi descrever um caso clínico de tratamento endodôntico, ambulatorial, de uma paciente do sexo feminino, 28 anos, com manifestações clássicas da síndrome, apresentando mudança de cor no elemento 11 com lesão periapical, justificando a indicação para endodontia. O atendimento odontológico de uma doença neurodegenerativa rara; realizado em ambiente ambulatorial, requer o conhecimento do dentista para que seja conduzido de forma eficiente e segura.

Hallervorden-Spatz syndrome is a rare, autosomal recessive neurodegenerative disorder characterized by large deposits of iron in the basal ganglia, which causes great motor and mental loss. It presents two forms of manifestations: the classic, which arises in childhood in the first decade of life; and the atypical, whose clinical manifestations appear later, between the second and third decades of life. The objective of this study was to describe a clinical case of endodontic outpatient treatment of a female patient, 28 years old, with classic manifestations of the syndrome, showing color change in element 11 with periapical lesion, justifying the indication for endodontics. The dental care of a rare neurodegenerative disease in an outpatient setting requires the dental surgeon's knowledge so that it is conducted efficiently and safely.

Humans , Female , Adult , Neurodegenerative Diseases , Pantothenate Kinase-Associated Neurodegeneration , Outpatients , Syndrome , Basal Ganglia , Dental Care , Endodontics