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To evaluate the safety and the potential antiviral treatment of inhaled enriched heparin in patients with COVID-19. The specific objectives were to investigate the anticoagulation profile, antiviral and anti-inflammatory effects, and respiratory evolution of inhaled enriched heparin. We conducted a randomized, triple-blind, placebo-controlled Phase I/II clinical trial in hospitalized adults with COVID-19 receiving inhalation of enriched heparin or saline (placebo) every 4 h for 7 days. Among the 27 patients who completed the study, no changes in blood coagulation parameters were observed, indicating the safety of inhaled enriched heparin. The group receiving enriched heparin showed a significant reduction in the need for supplemental oxygen and improvement in respiratory parameters, such as the PaO2/FiO2 ratio. Inhalation of enriched heparin is shown to be safe and has also demonstrated potential therapeutic benefits for patients with COVID-19. These promising results justify the continuation of the study to the next phase, Phase II/III, to further evaluate the therapeutic efficacy of inhaled enriched heparin in the treatment of COVID-19-associated viral pneumonia.Trial registration: ClinicalTrials.gov. 08/02/2021. Identifier: NCT04743011.
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Anticoagulantes , Tratamento Farmacológico da COVID-19 , COVID-19 , Heparina , Humanos , Heparina/administração & dosagem , Masculino , Feminino , Pessoa de Meia-Idade , Administração por Inalação , Idoso , COVID-19/virologia , Anticoagulantes/administração & dosagem , Anticoagulantes/uso terapêutico , Nebulizadores e Vaporizadores , SARS-CoV-2 , Adulto , Antivirais/administração & dosagem , Antivirais/uso terapêutico , Resultado do TratamentoRESUMO
PURPOSE: We tested the hypothesis that heat stress influences the closed-loop cardio-postural control by an increased blood pressure (BP) drop and postural sway. METHODS: Fourteen healthy individuals (eight women) performed two orthostatic tests under thermal reference (TC; ~ 24 ºC) and HOT (~ 38 ºC) conditions. The center-of-pressure (COP) displacements and the electromyography (EMG) activity of the calf muscles (medial gastrocnemius and tibialis anterior) were recorded during the initial orthostasis (ORT onset) after the supine-to-stand challenge. At the same period, BP (beat-to-beat) was continuously monitored, and supine-to-stand variations (∆%) were calculated. Sublingual temperature (Tsl) was measured as a surrogate of internal temperature. RESULTS: Tsl increased in HOT compared to TC (TC 36.5 ± 0.3 vs. HOT 36.7 ± 0.3 ºC; p < 0.01). COP distance was greater in HOT compared to TC condition (TC 596.6 ± 242.4 vs. HOT 680.2 ± 249.1 mm; p < 0.01). EMG activity of the gastrocnemius decreased in HOT compared to TC condition (TC 95.5 ± 19.8 vs. HOT 78.4 ± 22.8%mV; p = 0.02). EMG of tibialis did not change between TC and HOT (TC 83.5 ± 42.9 vs. HOT 66.1 ± 31.9% mV; p = 0.29). BP showed a greater fall in HOT compared to TC condition (∆%TC - 24.5 ± 13.2 vs. ∆%HOT - 33.2 ± 20.2%; p = 0.01). CONCLUSION: Heat stress causes a greater fall in blood pressure and a reduction in musculoskeletal pump activity during orthostatic onset. These effects could be potential mechanisms that underlie augmented postural instability under a heated environment.
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Introduction: Differential diagnoses between essential tremor and Parkinson's disease is challenging in some individuals, with both disorders sharing similarities. Considering these links, we hypothesized that both conditions have a similar profile for some antioxidant molecules, including 25-hydroxyvitamin D and bilirubin. Methods: We performed a cross-sectional study comparing serum levels of 25-hydroxyvitamin D and bilirubin in 31 ET patients, 38 PD, and 65 controls matched for age. We used the Fahn-Tolosa-Marin scale for the severity of tremors in the ET group. We used Hohen-Yahr and MDS-UPDRS part III scales in the PD group. In addition, we evaluated sociodemographic characteristics, including age, sex, ethnicity, years of study, duration of disease, and use of primidone. Results: We found no differences in serum levels for 25-hydroxyvitamin D or bilirubin subtype levels between the ET and PD groups. We found low levels of indirect bilirubin in the PD group compared to the controls. We did not find differences between ET and controls in all biomarkers of the study. Conclusion: ET and PD patients have similar profiles for 25-hydroxyvitamin D and bilirubin serum levels. The discovery of differences in oxidative stress biomarkers in both conditions, mainly low-cost substances available clinically, can assist in the differential diagnosis and, in the future, prognostication and better therapy management (AU).
Introdução: O diagnóstico diferencial entre tremor essencial (TE) e a doença de Parkinson (DP) é desafiador em alguns indivíduos com ambas as afecções apresentando algumas similaridades. Assim sendo, hipotetizamos que ambas têm perfil similar de algumas moléculas antioxidantes, incluindo 25-hidroxivitamina D e bilirrubina. Méto-dos: Realizamos um estudo transversal comparando os níveis séricos de 25-hidroxivitamina D e bilirrubinas em 31 indivíduos com TE, 38 com DP e 65 controles pareados por idade. A escala de Fahn-Tolosa-Marin foi usada para avaliação da gravidade do tremor no grupo com TE e Hohen-Yahr e UPDRS parte III na avaliação do grupo com DP. Também foram avaliadas as características sociodemográficas. Resultados: Não encontramos diferenças nos níveis séricos de 25-hidroxivitamina D ou bilirrubina entre os grupos TE e DP. Encontramos baixos níveis de bilirrubina indireta no grupo DP comparado aos controles. Não encontramos diferenças entre os grupos com TE e controles em nenhum dos biomarcadores do estudo. Conclusão: Pacientes com TE e DP apresentam níveis séricos semelhantes de 25-Hidroxivitamina D e bilirrubinas. Diferenças nos biomarcadores de estresse oxidativo em ambas as condi-ções, principalmente substâncias de baixo custo disponíveis na clínica, pode auxiliar no diagnóstico diferencial e, futuramente, no prognóstico e otimização terapêutica (AU).
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Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Doença de Parkinson/terapia , Bilirrubina , Calcifediol , Tremor Essencial/terapiaRESUMO
OBJECTIVE: Parkinson's disease (PD) affects older individuals and can cause sexual dysfunction (SD). SD is a determinant of general well-being; but is infrequently assessed in professionally. The Arizona Sexual Experience Scale (ASEX) measures SD; unlike other scales, it is minimally invasive and requires little time to complete. This review aimed to assess the prevalence of SD in patients with PD using ASEX. METHODS: Were searched the keywords, "sexual dysfunction," "Parkinson's disease" and "ASEX" in 9 databases. RESULTS: The prevalence of SD ranged from 65%-90%. SD was associated with older age at disease onset, higher Unified Parkinson Disease Rating Scale scores, age and depression (p ranged from .001 to <.05). The most observed SD was erectile dysfunction in men. CONCLUSION: SD is common among patients with PD. ASEX, although not specific to PD, is an easy and quickly applied tool that can help evaluate SD and guide treatments in PD.
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Doença de Parkinson , Disfunções Sexuais Fisiológicas , Masculino , Humanos , Doença de Parkinson/complicações , Arizona , Disfunções Sexuais Fisiológicas/etiologia , Disfunções Sexuais Fisiológicas/epidemiologia , Comportamento Sexual , PrevalênciaRESUMO
Background: Medication adherence is a crucial component in the management of patients with chronic diseases needing a long-term pharmacotherapy. Parkinson's disease (PD) is a chronic, degenerative disease with complex drug treatment that poses challenging barriers to patient adherence. The adoption of best practices of scale development can contribute to generate solid concepts and, in the long run, a more stable knowledge base on the underlying constructs of medication adherence in PD measured by the items of the first scale to be created for this purpose. Purpose: To present the development process and clinimetric testing plan of the Parkinson's Disease Medication Adherence Scale (PD-MAS). Method: We adopted a hybrid approach plan based on the United States Food and Drug Administration and Benson and Clark Guide that will create a patient-reported outcome instrument. We presented an overview of consecutive and interrelated steps, containing a concise description of each one. International research centers from Brazil and United States were initially involved in the planning and implementation of the methodological steps of this study. Results: We developed a four-phase multimethod approach for the conceptualization and the clinimetric testing plan of the PD-MAS. First, we describe the development process of the conceptual framework of the PD-MAS underpinning the scale construct; second, we formalized the development process of the first version of the PD-MAS from the generation of item pools to the content validation and pre-testing; third, we established the steps for the first pilot testing and revision; fourth, we describe the steps plan for the first pilot testing and revision, to finally describe its clinimetric testing plan and validation. Conclusion: The overview presentation of the development phases and the clinimetric testing plan of the PD-MAS demonstrate the feasibility of creating an instrument to measure the multidimensional and multifactorial components of the medication adherence process in people with PD.
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OBJECTIVE: The aim was to investigate the acute effect of kinesthetic motor imagery of the 2-minute walk test on hemodynamic and cardiopulmonary variables in patients with heart failure. METHODS: Twenty participants were recruited for the analysis of these variables before and after the execution and imagination of the 2-minute walk test, with the number of laps executed and imagined being recorded. RESULTS: The main results observed showed that (1) there was no difference in the number of laps executed and imagined (p=0.41), indicating that the participants actually imagined the test and (2) the motor imagery of the 2-minute walk test immediately increased (p<0.001) the heart and respiratory rates. CONCLUSION: The motor imagery seems to have acute effects on the cardiopulmonary anticipatory responses of a patient with heart failure.
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Insuficiência Cardíaca , Cinestesia , Humanos , Imaginação , Desempenho PsicomotorRESUMO
BACKGROUND: Chronic subdural hematomas (CSDHs) usually occur late in adults and older after mild head trauma. Surgical intervention is the first treatment option in CSDH with conservative management being adopted in few cases. CASE DESCRIPTION: We report a case of a 71-year-old man who presented a spontaneous resolution of a large CSDH. He presented with a difficulty of speech and an ataxic gait. Head (computed tomography scan) showed a low-density lesion located in the right frontal-temporal-parietal region. CONCLUSION: In this report, we discuss the spontaneous resolution of a large CSDH in elderly patients, without surgical intervention. Gradually, several successful nonsurgical therapies for the treatment of these hematomas are reported, although further studies are essential to establish the role of these nonsurgical treatments of CSDHs.
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O fenômeno do congelamento é considerado um sintoma incapacitante para indivíduos acometidos pela doença de Parkinson, gerando impactos negativos na mobilidade, funcionalidade e qualidade de vida. O congelamento pode acometer membros inferiores (congelamento da marcha) e/ou membros superiores, sendo caracterizado por súbita incapacidade de iniciar ou manter a amplitude dos movimentos. A fisiopatologia do congelamento ainda não é compreendida, porém atribui-se às alterações em diferentes estruturas neuroanatômicas, tais como: núcleo pedúnculo-pontino, locus ceruleus, circuitaria dos núcleos da base, pedúnculo cerebelar e córtices cerebrais e sistema límbico. Fatores que contribuem para o surgimento do congelamento são: tempo de duração da doença, idade avançada, subtipo acinético-rígido da doença, ansiedade ou depressão, perfil de tratamento farmacológico. Sugere-se que o congelamento da marcha e dos membros superiores compartilhem das mesmas características espaço-temporais. A avaliação clínica do congelamento da marcha é melhor estabelecida quando comparada com a avaliação do congelamento dos membros superiores. Estratégias para minimizar o fenômeno do congelamento são descritas no presente artigo.
The phenomenon of freezing is a disabling symptom for subjects with Parkinson's disease, causing impairment in mobility, functionality and quality of life. Freezing may aï¬ect lower limbs (freezing of gait) or upper limbs, and is characterized by sudden inability to initiate or maintain range of motion. The pathophysiology of freezing is not yet understood, but it is attributed to changes in diï¬erent neuroanatomical structures, such as: pedunculopontine nucleus, locus ceruleus, basal ganglia circuitry, pedunculocerebellar and cerebral cortices and limbic system. Factors that contribute to the appearance of freezing are: advanced age, akinetic-rigid subtype of the disease, anxiety or depression, pharmacological treatment strategies. It is suggested that the freezing of gait and upper limbs share the same spatiotemporal characteristics. The clinical evaluation of freezing of gait is better established when compared to the freezing of upper limbs. Strategies to minimize the phenomenon of freezing are described in this article.
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Humanos , Idoso , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/fisiopatologia , Extremidade Superior/fisiopatologia , Inquéritos e Questionários , Reprodutibilidade dos TestesRESUMO
INTRODUÇÃO: A Fisioterapia já possui quarenta e nove anos de reconhecimento como profissão de nível superior e nas ultimas duas décadas observa-se um acelerado crescimento juntamente com a preocupação quanto ao processo de formação dos fisioterapeutas. Uma maneira de conhecer se o processo de formação do fisioterapeuta o prepara para as exigências do mercado de trabalho é por meio de estudos que analisem o perfil profissional dos egressos, analisando a sua percepção em relação ao curso. Por esse aspecto destaca-se a relevância desse estudo que visa suprir a lacuna no estado atual da arte. OBJETIVO: Caracterizar o perfil profissional dos egressos do curso de Fisioterapia de uma instituição de ensino superior em Teresina- Piauí. MATERIAIS E MÉTODOS: Trata-se de uma pesquisa de corte transversal, quali-quantitativa de caráter descritivo com egressos que concluíram a graduação e obtiveram o título de bacharelado em Fisioterapia entre os anos de 2013 a 2018. RESULTADOS: Os egressos formados nesta instituição eram 67% do sexo feminino, com idade variando entre 18 e 40 anos, atuando principalmente em clínicas de fisioterapia, com renda entre 1 a 3 salários mínimos mensais e consideravam-se e no que se refere ao grau de satisfação com a profissão percebe-se que 38% estavam muito satisfeitos. CONCLUSÃO: O perfil profissional dos egressos do curso de Fisioterapia de uma instituição de ensino superior de Teresina-PI caracterizou-se com uma predominância do sexo feminino, tem como maior local de atuação nas clínicas e atendimentos particulares, atuando no setor da traumatologia/ortopedia seguida da neurologia, muito satisfeitos com a profissão.
INTRODUCTION: Physiotherapy already has forty-nine years of recognition as a higher level profession and in the last two decades there has been an accelerated growth together with the concern about the process of training of physiotherapists. One way of knowing if the physiotherapist training process prepares him for the demands of the job market is through studies that analyze the professional profile of the graduates, analyzing their perception of the course. For this aspect the relevance of this study is highlighted that aims to fill the gap in the current state of the art. OBJECTIVE: To characterize the professional profile of the graduates of the Physical Therapy course of a teresina-Piauí higher education institution. MATERIALS AND METHODS: This is a qualitative and quantitative crosssectional study with graduates who completed their undergraduate degree and obtained a bachelor's degree in Physiotherapy from 2013 to 2018. RESULTS: Graduates graduated from this institution were 67% of the female sex, with ages varying between 18 and 40 years, working mainly in physiotherapy clinics, with income between 1 and 3 monthly minimum salaries and considered themselves and with regard to the degree of satisfaction with the profession is perceived which 38% were very satisfied. CONCLUSION: The professional profile of the graduates of the Physical Therapy course of a higher education institution in Teresina-PI was characterized by a predominance of females, has as a major place of work in clinics and services, working in the field of traumatology / orthopedics followed by neurology, very satisfied with the profession.
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Especialidade de Fisioterapia , Instituições Acadêmicas , Descrição de CargoRESUMO
INTRODUCTION: Recent publications have highlighted the low sensitivity of the Mini-Mental State Examination (MMSE) for the cognitive assessment of patients with Parkinson disease (PD). The Montreal Cognitive Assessment (MoCA), otherwise, has shown greater sensitivity when compared to the MMSE. Based on this, we have searched for the cognitive impairment measurable by the MoCA and the functional performance on activities of daily living in a sample of Brazilian patients with PD and normal MMSE. We hypothesized that the low sensitivity of the MMSE, already shown by other authors, could be replicated in a low-income country. OBJECTIVE: To describe the performance on the MoCA and the dependence on third parties for activities of daily living in a sample of Brazilian patients with PD and normal MMSE. METHODS: We evaluated 43 volunteers with PD and normal MMSE considering the Brazilian cutoffs. Cognitive performance was assessed through the MoCA and functional performance through a modified version of the Disability Assessment for Dementia Scale. RESULTS: Despite normal score on the MMSE, considering the Brazilian cutoffs, 62.7% of the volunteers performed below the literature cutoff for the MoCA (26 points). Furthermore, 30.2% had dependence on third party for activities of daily living. By using a strict cutoff for the MMSE (26 points), 56.7% performed below the MoCA cutoff and 24.3% had dependence for activities of daily living. CONCLUSIONS: Our findings confirm the limitations of the MMSE for the cognitive screening of patients with PD in a low-income country.
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Transtornos Cognitivos/psicologia , Disfunção Cognitiva/psicologia , Testes de Estado Mental e Demência/normas , Testes Neuropsicológicos/normas , Doença de Parkinson/psicologia , Brasil , Transtornos Cognitivos/diagnóstico , Disfunção Cognitiva/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnósticoRESUMO
INTRODUCTION: This study investigated the movement strategies for postural control in patients with spinocerebellar ataxia type 3 (SCA3). METHODS: This case-control study enrolled 5 patients with SCA3 (aged 41 to 51 years) and 5 healthy participants group-matched by age, body mass and body height.Participants performed 3 trials lasting 30 s each of postural tasks characterized by: feet apart or together; eyes open or closed. Center of pressure (CoP) data was quantified using three-dimensional (3D: number of high-density and high-speed regions, average and maximal distances among regions), two-dimensional (2D: elliptical area, average velocity) and one-dimensional (1D: standard deviation, velocity) parameters. RESULTS: Analysis of variance revealed significant interaction effect between group*task for 1D (F12,238=3.496, p<0.001), 2D (F6,184=11.472, p<0.001), and 3D parameters (F12,238=2.543, p=0.004). Significant univariate effects for postural task were observed for all parameters, with higher body sway values under visual and biomechanical constraints, either separated or combined. CONCLUSIONS: Patients with SCA3 presented augmented movement strategiescompared with healthy subjects, characterized by increasing body sway under more demanding biomechanical and/ or visual constraints. Three-dimensional kinematic mapping revealed either random movement strategies or a unique movement strategy characterized by a stochastic CoP distribution, with high CoP speed to correct for large body sway deviations.
INTRODUÇÃO: Este estudo investigou as estratégias de movimento para controle postural em pacientes com ataxia espinocerebelar tipo 3 (SCA3). MÉTODOS: Este estudo de caso-controle incluiu cinco pacientes com SCA3 (idade 41 a 51 anos) e cinco participantes saudáveis, agrupados por idade, massa corporal e altura corporal. Os participantes realizaram três ensaios 30 s cada uma das tarefas posturais caracterizadas por: pés separados ou juntos; olhos abertos ou fechados. Os dados do centro de pressão (CoP) foram quantificados usando tridimensional (3D: número de alta densidade e alta velocidade regiões, distâncias médias e máximas entre regiões), bidimensional (2D: área elíptica, velocidade média) e unidimensional (1D: Desvio padrão, velocidade). RESULTADOS: Análise de variância Revelou um efeito de interação significativo entre a tarefa * grupo 1D (F12.238 = 3.496, p <0.001), 2D (F6.184 = 11.472, p <0.001) e os parâmetros 3D (F12,238 = 2,543, p = 0,004). Efeitos univariados significativos foram observados para todos os parâmetros, com maiores valores de balanço corporal sob restrições visuais e biomecânicas, separadas ou combinados. CONCLUSÕES: Os pacientes com SCA3 apresentaram estratégias de movimento comparadas com indivíduos saudáveis, aumentando o balanço do corpo sob condições biomecânicas e / ou restrições visuais. O mapeamento cinemático tridimensional revelou estratégias de movimento aleatório ou uma estratégia de movimento caracterizada por uma distribuição estocástica de CoP, com alta velocidade de correção para os grandes desvios.
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Modalidades de Fisioterapia , Doença de Machado-Joseph/diagnóstico , Doença de Machado-Joseph/terapia , Terapia por Exercício/métodos , Análise e Desempenho de Tarefas , Estudos de Casos e Controles , Equilíbrio Postural , Exame Neurológico/métodosRESUMO
ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.
RESUMO A forma atípica de PKAN costuma se apresentar por volta dos 14 anos de idade, possui uma sintomatologia heterogênea, com sintomas extrapiramidais e, em cerca de um terço dos pacientes, também com a manifestação de sintomas psiquiátricos. O presente artigo relata o caso de uma paciente com sintomatologia típica da Síndrome de Tourette à primeira vista. Entretanto, a gravidade do quadro e pouca resposta ao tratamento levaram a uma maior investigação e ao diagnóstico de PKAN como causa secundária do Tourettismo.
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Humanos , Relatos de Casos , Síndrome de Tourette , Neurodegeneração Associada a Pantotenato-QuinaseRESUMO
A doença de Parkinson é uma desordem neurológica com impacto negativo na motricidade e qualidade de vida dos pacientes. O comprometimento motor inclui dificuldades para a marcha, equilíbrio e atividades de vida diária. Contudo, pouca atenção é dada aos aspectos de avaliação e reabilitação física dos membros superiores na doença de Parkinson. Sendo assim, o presente artigo apresenta instrumentos de avaliação no contexto da Classsificação Internacional de Funcionalidade, Incapacidade e Saúde que são relatados na literatura e que podem servir como desfechos clínicos para verificar a evolução dos pacientes com DP na reabilitação física.
Parkinson's disease is a neurological disorder with a negative impact on motor function and quality of life of patients. The motor impairment includes diffulites in walking, balance and daily activities. However, little attention is paid to aspects of evaluation and physical rehabilitation for upper limbs in Parkinson's disease. Therefore, this paper presents assessment tools in the context of the International Colassification of Functioning, Disability and Health that are reported in the literature and which can serve as clinical outcomes to verify the evolution of Parkinson's disease patients in physical rehabilitation.
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Humanos , Idoso , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Doença de Parkinson/reabilitação , Extremidade Superior , Terapia por Exercício/métodos , Análise e Desempenho de Tarefas , Reprodutibilidade dos Testes , Resultado do TratamentoRESUMO
The five senses have specific ways to receive environmental information and lead to central nervous system. The perception of time is the sum of stimuli associated with cognitive processes and environmental changes. Thus, the perception of time requires a complex neural mechanism and may be changed by emotional state, level of attention, memory and diseases. Despite this knowledge, the neural mechanisms of time perception are not yet fully understood. The objective is to relate the mechanisms involved the neurofunctional aspects, theories, executive functions and pathologies that contribute the understanding of temporal perception. Articles form 1980 to 2015 were searched by using the key themes: neuroanatomy, neurophysiology, theories, time cells, memory, schizophrenia, depression, attention-deficit hyperactivity disorder and Parkinson's disease combined with the term perception of time. We evaluated 158 articles within the inclusion criteria for the purpose of the study. We conclude that research about the holdings of the frontal cortex, parietal, basal ganglia, cerebellum and hippocampus have provided advances in the understanding of the regions related to the perception of time. In neurological and psychiatric disorders, the understanding of time depends on the severity of the diseases and the type of tasks.
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The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.
A forma atípica de PKAN costuma se apresentar por volta dos 14 anos de idade, possui uma sintomatologia heterogênea, com sintomas extrapiramidais e, em cerca de um terço dos pacientes, também com a manifestação de sintomas psiquiátricos. O presente artigo relata o caso de uma paciente com sintomatologia típica da Síndrome de Tourette à primeira vista. Entretanto, a gravidade do quadro e pouca resposta ao tratamento levaram a uma maior investigação e ao diagnóstico de PKAN como causa secundária do Tourettismo.
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Amyotrophic lateral sclerosis (ALS), Charcot's disease or Lou Gehrig's disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades - or even one decade - ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion.
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This paper reviews the current and most neurological (central nervous system, CNS) uses of the botulinum neurotoxin type A. The effect of these toxins at neuromuscular junction lends themselves to neurological diseases of muscle overactivity, particularly abnormalities of muscle control. There are seven serotypes of the toxin, each with a specific activity at the molecular level. Currently, serotypes A (in two preparations) and B are available for clinical purpose, and they have proved to be safe and effective for the treatment of dystonia, spasticity, headache, and other CNS disorders in which muscle hyperactivity gives rise to symptoms. Although initially thought to inhibit acetylcholine release only at the neuromuscular junction, botulinum toxins are now recognized to inhibit acetylcholine release at autonomic cholinergic nerve terminals, as well as peripheral release of neuro-transmitters involved in pain regulation. Its effects are transient and nondestructive, and largely limited to the area in which it is administered. These effects are also graded according to the dose, allowing individualized treatment of patients and disorders. It may also prove to be useful in the control of autonomic dysfunction and sialorrhea. In over 20 years of use in humans, botulinum toxin has accumulated a considerable safety record, and in many cases represents relief for thousands of patients unaided by other therapy.
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OBJETIVO: Realizar uma revisão sobre o metabolismo do aminoácido sulfurado homocisteína, analisando como elevações de seus níveis séricos se correlacionam com a fisiopatologia das mais diversas doenças neurológicas, assim como sobre o tratamento da hiper-homocisteinemia. MÉTODO: Revisão não sistemática de artigos que abordassem o papel da homocisteína associado a doenças neurológicas.Foi priorizada a utilização de artigos que apresentassem no título as palavras-chave "homocisteína" ou "hiper-homocisteinemia",associadas a palavras-chave contendo as enfermidades neurológicas de maior prevalência como acidente vascular cerebral, doença de Alzheimer, doença de Parkinson e outras. Foram utilizadas as bases de dados do PubMed, Lilacs e Google Scholar. RESULTADOS: Foram utilizados 35 artigos em inglês e 2 artigos em português para a confecção desta revisão. CONCLUSÃO: A homocisteína se encontra elevada em associação com as mais diversas doenças neurológicas. Contudo, em muitas delas não está estabelecido se esse aumento é um achado secundário ou se representa um papel da homocisteína na patogênese dessas enfermidades. Mais estudos são necessários para estabelecer o papel da homocisteína em situações neurológicas.O tratamento da hiper-homocisteinemia é fácil, sendo feito com reposição de vitamina B12 e, principalmente, de folatos.
OBJECTIVE: Review the metabolism of sulfur amino acid homocysteineand how elevation of its serum levels is correlated with the pathophysiologyof several neurological diseases, as well as the treatment of hyperhomocysteinemia. METHOD: A non-systematic review of articles discussing the role of homocysteine associated with neurological diseases was performed. The use of articles that presented in the title the keywords "homocysteine" or "hyperhomocysteinemia" associated with keywords containing the most prevalent neurological disorders such as stroke, Alzheimer's disease, Parkinson's disease and others were preferred. The search was underdone through PubMed, Google Scholar and Lilacs databases. RESULTS: There were selected 35 articles in English and 2 articles in Portuguese in this this review. CONCLUSION: High levels of homocysteine are associated with various neurological disorders. However, in many of these are not established whether this increase is a consequence of these disorders or if homocysteine plays a role in the pathogenesis of these diseases. More studies are needed to establish the participation ofhomocysteine in neurological disorders. The treatment of hyperhomocysteinemia is easy, being done with replacement of vitamin B12and especially folate.