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1.
Arq. neuropsiquiatr ; 82(4): s00441786026, 2024.
Article in English | LILACS-Express | LILACS | ID: biblio-1557139

ABSTRACT

Abstract Deep brain stimulation (DBS) is recognized as an established therapy for Parkinson's disease (PD) and other movement disorders in the light of the developments seen over the past three decades. Long-term efficacy is established for PD with documented improvement in the cardinal motor symptoms of PD and levodopa-induced complications, such as motor fluctuations and dyskinesias. Timing of patient selection is crucial to obtain optimal benefits from DBS therapy, before PD complications become irreversible. The objective of this first part review is to examine the fundamental concepts of DBS for PD in clinical practice, discussing the historical aspects, patient selection, potential effects of DBS on motor and non-motor symptoms, and the practical management of patients after surgery.


Resumo Nas últimas três décadas, a estimulação cerebral profunda (ECP) se tornou um tratamento bem estabelecido para doença de Parkinson (DP) e outros transtornos do movimento. A eficácia a longo prazo na DP foi bem documentada para a melhora dos sintomas motores cardinais da DP e das complicações induzidas pelo uso do levodopa, como as flutuações motoras e as discinesias. O momento da seleção do paciente é crucial para se obter os benefícios ideais da ECP, antes que as complicações da DP se tornem irreversíveis. O objetivo desta primeira parte da revisão é examinar os conceitos fundamentais da ECP na prática clínica, discutindo os aspectos históricos, a seleção de pacientes, os potenciais efeitos da ECP nos sintomas motores e não motores da doença e o manejo prático dos pacientes após a cirurgia.

2.
Arq. neuropsiquiatr ; 82(2): s00441779608, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1550041

ABSTRACT

Abstract Background Therapeutic adherence is a decisive issue on chronic disease management in patients requiring long-term pharmacotherapy, such as Parkinson's disease (PD). Although it is well known that socioeconomic factor is a barrier to medication adherence in many chronic diseases, its impacts on PD still need to be investigated. Objective Explore what and how socioeconomic factors impact medication adherence in people with PD. Methods We carried out a scoping review across three databases to identify studies exploring what and how socioeconomic factors impact medication adherence in people with PD considering eight attributes: 1. educational level, 2. disease-related knowledge, 3. income, 4. cost of medication, 5. drug subsidy (meaning presence of subsidies in the cost of medication), 6. employability, and 7. ethnicity (black, indigenous, immigrants). Results Of the 399 identified studies (Embase = 294, Medline = 88, LILACS = 17), eight met inclusion criteria. We identified factors covering the eight attributes of socioeconomic impact, and all of them negatively impacted the medication adherence of people with PD. The most prevalent factor in the studies was low patient educational level (four studies), followed by costs of medications (three studies), income (three studies), and disease-related knowledge (three studies). Distinctly from most of the studies selected, one of them evidenced suboptimal adherence in individuals receiving the medication free of charge, and another one could not find correlation between suboptimal adherence and educational level. Conclusion Socioeconomic factors negatively impact medication adherence in PD patients. This review provides basis for developing patient and population-based interventions to improve adherence to treatment in PD.


Resumo Antecedentes A adesão à medicação é um componente crucial no manejo correto da doença de Parkinson (DP) e, embora esteja bem estabelecido que o fator socioeconômico é uma barreira à adesão medicamentosa em muitas doenças crônicas, seus impactos na DP ainda precisam ser investigados. Objetivo Explorar quais são e como os fatores socioeconômicos afetam a adesão à medicação em pessoas com DP. Métodos Realizamos uma revisão de escopo em três bases de dados para identificar estudos que explorassem quais e como os fatores socioeconômicos impactam na adesão à medicação em pessoas com DP, considerando oito atributos: 1. nível educacional, 2. conhecimento relacionado à doença, 3. renda, 4. custo de medicamentos, 5. subsídio de medicamentos (ou seja, presença de subsídios no custo dos medicamentos), 6. empregabilidade e 7. etnia (negra, indígena, imigrantes). Resultados Dos 399 estudos identificados (Embase = 294, Medline = 88, LILACS = 17), oito preencheram os critérios de inclusão. Identificamos fatores que abrangem os oito atributos de impacto socioeconômico e todos impactaram negativamente na adesão medicamentosa de pessoas com DP. Foram mais prevalentes o baixo nível educacional do paciente (quatro estudos), custos dos medicamentos, nível de renda e conhecimento relacionado à doença (três estudos cada). Diferentemente da maioria dos estudos selecionados, um deles evidenciou adesão subótima em indivíduos que receberam a medicação gratuitamente, e outro não encontrou correlação entre adesão subótima e nível educacional. Conclusão Fatores socioeconômicos impactam negativamente a adesão ao tratamento medicamentoso em pessoas com DP. Esta revisão fornece base para o desenvolvimento de intervenções baseadas em pacientes e populações no intuito de melhorar a adesão ao tratamento farmacológico de pessoas com DP.

3.
Dement. neuropsychol ; 17: e20230022, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1528495

ABSTRACT

ABSTRACT Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.


RESUMO A doença de Parkinson (DP) é uma doença neurodegenerativa comum associada ao declínio cognitivo. A Avaliação Cognitiva de Montreal (Montreal Cognitive Assessment — MoCA) tem sido usada como uma escala de cognição global recomendada para pacientes com DP, mas existem algumas preocupações sobre sua aplicação, em parte pelos efeitos solo e teto. Objetivo: Explorar os efeitos solo e teto na MoCA em pacientes com DP no Brasil. Métodos: Estudo transversal com dados de pacientes com DP oriundos de cinco Clínicas de Distúrbios de Movimento no Brasil, excluindo-se pessoas com possível diagnóstico de demência. Nós analisamos a pontuação total da MoCA, assim como a de seus sete domínios cognitivos. Os efeitos solo e teto foram avaliados para a pontuação total da MoCA e seus domínios. Foram feitas análises multivariadas para a detecção de fatores associados os efeitos solo e teto. Resultados: Nós avaliamos dados de 366 pacientes com DP, e aproximadamente 19% das pessoas tinham menos que cinco anos de escolaridade. Para a pontuação total do MoCA, não houve efeito solo ou teto. Houve efeito solo nos domínios abstração e memória de evocação tardia em 20% de nossa amostra. O efeito teto foi demonstrado em todos os domínios (80,8% mais comum em nomeação e 89% orientação), com exceção de memória de evocação tardia. A educação foi o principal fator associado aos efeitos solo e teto, independentemente de região, sexo, idade na avaliação e duração da doença. Conclusão: Os efeitos solo e teto estão presentes em domínios específicos da MoCA no Brasil, com forte impacto da educação. Adaptações adicionais à estrutura da MoCA para populações vulneráveis podem reduzir esses efeitos negativos.

4.
Clinics ; 78: 100243, 2023. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1506020

ABSTRACT

Abstract Aims Although reduced life expectancy in Parkinson's Disease (PD) patients has been related to severe cardiac arrhythmias due to autonomic dysfunctions, its molecular mechanisms remain unclear. To investigate the role of cardiac β1-Adrenergic (β1AR) and A1-Adenosine (A1R) receptors in these dysfunctions, the pharmacological effects of stimulation of cardiac β1AR (isoproterenol, ISO), in the absence and presence of cardiac β1AR (atenolol, AT) or A1R (1,3-dipropyl-8-cyclopentyl xanthine, DPCPX) blockade, on the arrhythmias induced by Ischemia/Reperfusion (CIR) in an animal PD model were studied. Methods PD was produced by dopaminergic lesions (confirmed by immunohistochemistry analysis) caused by the injection of 6-hydroxydopamine (6-OHDA, 6 μg) in rat striatum. CIR was produced by a surgical interruption for 10 min followed by reestablishment of blood circulation in the descendent left coronary artery. On the incidence of CIR-Induced Ventricular Arrhythmias (VA), Atrioventricular Block (AVB), and Lethality (LET), evaluated by Electrocardiogram (ECG) analysis, the effects of intravenous treatment with ISO, AT and DPCPX (before CIR) were studied. Results VA, AVB and LET incidences were significantly higher in 6-OHDA (83%, 92%, 100%, respectively) than in control rats (58%, 67% and 67%, respectively). ISO treatment significantly reduced these incidences in 6-OHDA (33%, 33% and 42%, respectively) and control rats (25%, 25%, 33%, respectively), indicating that stimulation of cardiac β1AR induced cardioprotection. This response was prevented by pretreatment with AT and DPCPX, confirming the involvement of cardiac β1AR and A1R. Conclusion Pharmacological modulation of cardiac β1AR and A1R could be a potential therapeutic strategy to reduce severe arrhythmias and increase life expectancy in PD patients.

5.
Arq. neuropsiquiatr ; 81(2): 128-133, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439428

ABSTRACT

Abstract Background Spontaneous intracranial hypotension (SIH) is a secondary cause of headache and an underdiagnosed disease. The clinical presentation can be highly variable. It typically presents with isolated classic orthostatic headache complaints, but patients can develop significant complications such as cerebral venous thrombosis (CVT). Objective To report 3 cases of SIH diagnosis admitted and treated in a tertiary-level neurology ward. Methods Review of the medical files of three patients and description of clinical and surgical outcomes. Results Three female patients with SIH with a mean age of 25.6 ± 10.0 years old. The patients had orthostatic headache, and one of them presented with somnolence and diplopia because of a CVT. Brain magnetic resonance imaging (MRI) ranges from normal findings to classic findings of SIH as pachymeningeal enhancement and downward displacement of the cerebellar tonsils. Spine MRI showed abnormal epidural fluid collections in all cases, and computed tomography (CT) myelography could determine an identifiable cerebrospinal fluid (CSF) leak in only one patient. One patient received a conservative approach, and the other two were submitted to open surgery with lamino-plasty. Both of them had uneventful recovery and remission in surgery follow-up. Conclusion The diagnosis and management of SIH are still a challenge in neurology practice. We highlight in the present study severe cases of incapacitating SIH, complication with CVT, and good outcomes with neurosurgical treatment.


Resumo Antecedentes Hipotensão intracraniana espontânea (HIE) é uma causa secundária de cefaleia e uma doença subdiagnosticada. A apresentação clínica pode ser muito variável. Tipicamente, se apresenta com queixas isoladas de cefaleia ortostática clássica, porém pode evoluir com complicações significativas como trombose venosa cerebral (TVC). Objetivo Relatar 3 casos de diagnóstico de hipotensão intracraniana espontânea manejados em uma enfermaria de neurologia de nível terciário. Métodos Revisão dos prontuários de três pacientes e descrição dos resultados clínicos e cirúrgicos. Resultados Três pacientes do sexo feminino com média de idade de 25.6 ± 10.0 anos. As pacientes apresentavam cefaleia ortostática e uma delas apresentou sonolência e diplopia devido a TVC. A ressonância magnética (RM) do encéfalo varia de achados normais até achados clássicos de HIE como realce paquimeníngeo e deslocamento inferior das tonsilas cerebelares. A RM da coluna mostrou coleções anormais de líquido epidural em todos os casos e a mielografia por tomografia computadorizada (TC) foi capaz de determinar fístula liquórica identificável em apenas uma paciente. Uma paciente recebeu abordagem conservadora e as outras duas foram submetidas a cirurgia aberta com laminoplastia. Ambas tiveram recuperação e remissão sem intercorrências no seguimento cirúrgico. Conclusão O diagnóstico e manejo da hipotensão intracraniana ainda são desafios na prática neurológica. Destacamos no presente estudo casos graves, complicação com TVC e bons resultados com tratamento neurocirúrgico.

6.
Dement. neuropsychol ; 16(3,supl.1): 73-87, jul.-set. 2022. tab, graf, il. color
Article in Portuguese | LILACS | ID: biblio-1404479

ABSTRACT

RESUMO A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.


ABSTRACT Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.


Subject(s)
Humans , Aged , Parkinson Disease , Lewy Bodies , Central Nervous System Diseases
7.
Arq. neuropsiquiatr ; 80(3): 316-329, Mar. 2022. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1383867

ABSTRACT

ABSTRACT The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.


Resumo O tratamento da doença de Parkinson (DP) constitui um desafio, especialmente por ser considerado muito individualizado. A Academia Brasileira de Neurologia (ABN) identificou a necessidade de disseminar o conhecimento sobre o manejo do tratamento da DP, adaptando as melhores evidências à realidade brasileira. Assim, foi realizada uma revisão sobre as principais orientações de tratamento publicadas, baseada nas recomendações elaboradas por um grupo de especialistas em transtornos do movimento do departamento científico da ABN.

8.
Arq. neuropsiquiatr ; 79(6): 478-482, June 2021. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1285366

ABSTRACT

ABSTRACT Background: Neurological disorders are significant causes of morbidity and mortality worldwide. However, data about general neurological inpatient admissions in Brazil is limited. Objective: To investigate the prevalence of neurological disorders according to disease group and lesion site among patients admitted to a general Neurology ward. Methods: This was an observational and descriptive study. The hospital discharge database for the Neurology ward was surveyed in accordance with the International Classification of Diseases, 10th edition (ICD-10), from September 2008 to October 2019. The final diagnosis was classified into neurological disorder groups and site. Results: Overall, 2,606 clinical neurological patient files were included, with mean length of hospitalization of 16.7 days and a total of 325 readmissions (12.5%). The overall mortality rate in the ward was 3.8% (100 patients). Among all the diagnoses, cerebrovascular disease was the most prevalent (45.8%), followed by inflammatory disorders (22.2%). The brain was the most common lesion site (66.0%), followed by peripheral nerves (10.0%) and meninges and cerebrospinal fluid (7.7%). Conclusions: The disease pattern upon admission showed that a majority of the cases consisted of cerebrovascular disorders and that the brain was the most frequently affected structure, although we observed that a wide variety of cases were admitted, encompassing all neurological disorders.


RESUMO Introdução: As doenças neurológicas representam importante causa de morbidade e mortalidade globalmente, mas informações acerca de internações hospitalares em neurologia no Brasil são limitadas. Objetivo: Investigar a prevalência de admissões neurológicas por grupo de doenças e pela topografia atendidas em uma enfermaria de neurologia geral. Métodos: Estudo observacional e descritivo. Avaliados diagnósticos de saída de acordo com o Código Internacional de Doenças-10 (CID-10) no período de setembro de 2008 a outubro de 2019. Os diagnósticos foram classificados em grupos de doença e por topografia. Resultados: Foram incluídos 2,606 pacientes, com tempo médio de internação de 16,7 dias e um total de 325 (12,5%) readmissões. A mortalidade geral na enfermaria foi de 100 (3,8%) pacientes. A doença cerebrovascular foi mais prevalente (45,8%), seguida das doenças inflamatórias (22,2%). A topografia encefálica foi a mais comum (66,0%), seguida de nervos periféricos (10,0%), meninges e líquido cefalorraquidiano (7,7%). Conclusões: O perfil de doenças observado neste estudo demonstrou maior prevalência das doenças cerebrovasculares e da topografia encefálica, embora uma grande variedade de doenças tenha sido admitida dentro do espectro de doenças neurológicas.

9.
Arq. neuropsiquiatr ; 78(4): 206-216, Apr. 2020. tab, graf
Article in English | LILACS | ID: biblio-1098084

ABSTRACT

Abstract Background: There are currently no methods to predict the development of levodopa-induced dyskinesia (LID), a frequent complication of Parkinson's disease (PD) treatment. Clinical predictors and single nucleotide polymorphisms (SNP) have been associated to LID in PD. Objective: To investigate the association of clinical and genetic variables with LID and to develop a diagnostic prediction model for LID in PD. Methods: We studied 430 PD patients using levodopa. The presence of LID was defined as an MDS-UPDRS Part IV score ≥1 on item 4.1. We tested the association between specific clinical variables and seven SNPs and the development of LID, using logistic regression models. Results: Regarding clinical variables, age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists were associated to LID. Only CC genotype of ADORA2A rs2298383 SNP was associated to LID after adjustment. We developed two diagnostic prediction models with reasonable accuracy, but we suggest that the clinical prediction model be used. This prediction model has an area under the curve of 0.817 (95% confidence interval [95%CI] 0.77‒0.85) and no significant lack of fit (Hosmer-Lemeshow goodness-of-fit test p=0.61). Conclusion: Predicted probability of LID can be estimated with reasonable accuracy using a diagnostic clinical prediction model which combines age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists.


Resumo Introdução: No momento, não há métodos para se predizer o desenvolvimento de discinesias induzidas por levodopa (DIL), uma frequente complicação do tratamento da doença de Parkinson (DP). Preditores clínicos e polimorfismos de nucleotídeo único (SNP) têm sido associados às DIL na DP. Objetivo: Investigar a associação entre variáveis clínicas e genéticas com as DIL e desenvolver um modelo de predição diagnóstica de DIL na DP. Métodos: Foram avaliados 430 pacientes com DP em uso de levodopa. A presença de DIL foi definida como escore ≥1 no item 4.1 da MDS-UPDRS Parte IV. Nós testamos a associação entre variáveis clínicas específicas e sete SNPs com o desenvolvimento de DIL, usando modelos de regressão logística. Resultados: Em relação às variáveis clínicas, idade de início da doença, duração da doença, sintomas motores iniciais e uso de agonistas dopaminérgicos estiveram associados às DIL. Apenas o genótipo CC do SNP rs2298383 no gene ADORA2A esteve associado com DIL após o ajuste. Nós desenvolvemos dois modelos preditivos diagnósticos com acurácia razoável, mas sugerimos o uso do modelo preditivo clínico. Esse modelo de predição tem uma área sob a curva de 0,817 (intervalo de confiança de 95% [IC95%] 0,77‒0,85) e sem perda significativa de ajuste (teste de qualidade de ajuste de Hosmer-Lemeshow p=0,61). Conclusão: A probabilidade prevista de DIL pode ser estimada, com acurácia razoável, por meio do uso de um modelo preditivo diagnóstico clínico, que combina a idade de início da doença, duração da doença, sintomas motores iniciais e uso de agonistas dopaminérgicos.


Subject(s)
Humans , Parkinson Disease/drug therapy , Levodopa/therapeutic use , Dyskinesia, Drug-Induced , Dopamine Agonists , Polymorphism, Single Nucleotide , Antiparkinson Agents
10.
Arq. neuropsiquiatr ; 78(2): 81-87, Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1089002

ABSTRACT

ABSTRACT Background: Huntington's disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.


RESUMO Introdução: A doença de Huntington (DH), causada por uma repetição CAG expandida no HTT, não possui tratamento e biomarcadores são necessários para futuros ensaios clínicos. Objetivo: Nosso objetivo foi verificar se os níveis de carnitina livre e aminoácidos de cadeia ramificada se comportam como potenciais biomarcadores na DH. Métodos: Portadores sintomáticos e assintomáticos e controles foram recrutados. Idade, sexo, índice de massa corporal (IMC), idade de início, duração da doença, escores UHDRS e trato CAG expandido foram obtidos; valina, leucina, isoleucina e carnitina livre foram medidas. Foram realizadas análises basal e longitudinal. Resultados: Setenta e quatro portadores sintomáticos, 20 portadores assintomáticos e 22 não portadores foram incluídos. No início do estudo, os níveis de valina estavam reduzidos em portadores de DH sintomáticos e assintomáticos quando comparados aos não portadores. Não foram observadas diferenças nos níveis de carnitina livre ou isoleucina + leucina entre os grupos. O IMC dos indivíduos sintomáticos foi menor que o dos não portadores. Níveis de valina correlacionaram-se com o IMC. Avaliação de acompanhamento foi realizada em 43 indivíduos sintomáticos. A pontuação do escore motor total da UHDRS aumentou 4,8 pontos/ano em média. Não foram observadas reduções significativas no IMC ou na valina, enquanto os níveis de carnitina livre e isoleucina+leucina aumentaram. Conclusões: Embora os níveis de valina tenham sido menores nos portadores de DH e estivessem relacionados às perdas de IMC observadas em indivíduos pré-sintomáticos, nenhum desses metabólitos parece ser biomarcador para a DH.


Subject(s)
Humans , Huntington Disease , Biomarkers , Carnitine , Amino Acids, Branched-Chain
12.
Clinics ; 74: e776, 2019. tab, graf
Article in English | LILACS | ID: biblio-989643

ABSTRACT

OBJECTIVES: To compare signs and symptoms of dysphagia in individuals with cervical dystonia (CD) before and after application of botulinum toxin (BTX). METHODS: A prospective study was conducted with 20 patients diagnosed with CD with indications for BTX application. We selected 18 patients who met the study inclusion criteria. All individuals were patients from the Movement Disorders Unit, Department of Neurology, Federal University of São Paulo. BTX was applied in the cervical region at the necessary dose for each individual. To identify signs/complaints of changes in swallowing, we used a specific questionnaire that was completed by patients and/or their companions on the day of BTX injection and repeated 10 to 15 days after BTX injection. RESULTS: Among the 18 study subjects, 15 (83.3%) showed primary and three (16.7%) showed secondary cervical dystonia. The most frequent dystonic movements were rotation (18), tilt (5), forward shift (3), backward shift (7), shoulder elevation (12), shoulder depression (2), and cervical tremor (6). The main complaints reported before BTX application were voice changes in 10 (55.6%), need for adjustment of eating position in 10 (55.6%), coughing and/or choking while eating in nine (50%), and increased eating time in nine (50%) individuals. The main complaints reported after BTX application were coughing and/or choking while eating in 11 (61.1%), voice changes in nine (50%), sensation of food stuck in the throat in eight (44%), and increased eating time in eight (44%) individuals. CONCLUSION: The administration of a swallowing-specific questionnaire to individuals with CD before and after BTX application enabled the identification of possible dysphagia symptoms prior to drug treatment resulting from CD, which are often subsequently interpreted as side effects of the drug treatment. Thus, dysphagia can be managed, and aspiration symptoms can be prevented.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Deglutition Disorders/diagnosis , Botulinum Toxins, Type A/pharmacology , Deglutition/drug effects , Dystonia/congenital , Neuromuscular Agents/pharmacology , Perception , Deglutition Disorders/psychology , Deglutition Disorders/drug therapy , Case-Control Studies , Prospective Studies , Treatment Outcome , Botulinum Toxins, Type A/therapeutic use , Dystonia/psychology , Dystonia/drug therapy , Eating/psychology , Neuromuscular Agents/therapeutic use
13.
Rev. bras. neurol ; 54(1): 5-9, jan.-mar. 2018. tab
Article in Portuguese | LILACS | ID: biblio-882136

ABSTRACT

A doença de Parkinson (DP) é uma doença neurodegenerativa deri¬vada de uma redução da produção de dopamina. O seu tratamento é basicamente por medidas farmacológicas. No entanto, nos está¬dios avançados da doença, especialmente devido às flutuações do motor, o tratamento farmacológico por si só não é completamente bem-sucedido. Assim, surge a possibilidade de benefícios ao pacien¬te pela técnica de estimulação cerebral profunda (DBS). O objetivo deste estudo foi analisar o impacto do DBS palidal ou subtalâmica sobre a qualidade de vida desses pacientes (QoL). Para tanto, em¬pregaram-se duas escalas, comparando os resultados pré e pós-ope¬ratórios: o Inventário de Depressão de Beck - BDI (avalia o aspecto emocional dos pacientes) e o PDQ-39 (avalia os aspectos motores e as relações sociais). Podemos observar que a avaliação do BDI apon¬tou para uma melhora média de 9,5% e os escores do PDQ-39 me¬lhoraram 10,28%. Há evidências que pacientes submetidos à técnica de DBS subalâmicos ou paliativos mostraram uma QoL de melhoria importante, assim, o DBS surge como um adjuvante na luta contra a doença de Parkinson. (AU)


Parkinson's disease (PD) is a neurodegenerative disorder derived from a reduction of dopamine production. The treatment of PD is basically by pharmacological measures. However, in the advanced stages of the disease, especially due to motor fluctuations, phar¬macological treatment by itself is not completely successful. At that moment, the possibility of the patient´s benefits by the technique of deep brain stimulation (DBS) comes up. The aim of this study was to analyze the impact of pallidal or subthalamic DBS on PD patients' quality of life (QoL). To do so, two scales were employed, comparing the pre and post-operative results: Beck Depression Inventory - BDI (evaluates the patients' emotional aspect) and PDQ-39 (evaluates mo¬tor aspects and social relations). We could observe that BDI evalua¬tion pointed to an average improvement of 9.5% and PDQ-39 scores improved 10.28%. We can conclude that patients who have undergo¬ne the technique of subthalamic or pallidal DBS showed an important improvement QoL. DBS comes up as an adjuvant in the fight against Parkinson's disease. (AU)


Subject(s)
Humans , Male , Female , Aged , Parkinson Disease/surgery , Parkinson Disease/diagnosis , Parkinson Disease/therapy , Deep Brain Stimulation/methods , Quality of Life , Surveys and Questionnaires , Treatment Outcome , Depression/therapy
14.
Motriz (Online) ; 24(2): e1018123, 2018. tab, graf
Article in English | LILACS | ID: biblio-955143

ABSTRACT

Abstract AIMS to compare the efficacy of neurofunctional training versus resistance training in improving gait and quality of life among patients with PD METHODS This randomized controlled trial included 40 participants randomly assigned to two groups through random number table generator: resistance training (RT) (n=19) and neurofunctional training (NT) (n=21). The RT group performed resistance exercises emphasizing the lower limbs and trunk, while the NT group sessions were focused on gait, functional independence and balance training. Trained physical therapists supervised both groups. The training sessions lasted 60 minutes in each group and were performed twice a week, totalizing 24 sessions. The outcomes, gait and quality of life, were measured using video gait analysis and footprint analysis; and PDQL and PDQ-39 questionnaires, respectively RESULTS intra-group comparison revealed all gait variables (stride length, step length, number of steps, time of distance walked, gait speed and cadence) improved after the NT intervention with large effect size, while only stride length improved in the RT group with moderate effect size. The between group analyses means (Δ) shows that all the variables presented statistically significant differences in the NT group. Additionally, both groups showed significant improvements in quality of life. CONCLUSIONS The application of specific neurofunctional training, directed and enriched with sensorial resources, resulted in superior gait performance among individuals with PD when compared to those in the resistance training group; both treatments were efficacious in improving quality of life.


Subject(s)
Humans , Parkinson Disease/physiopathology , Physical Therapy Modalities/instrumentation , Neurological Rehabilitation/methods , Endurance Training/methods
16.
Arq. neuropsiquiatr ; 75(8): 503-508, Aug. 2017. tab, graf
Article in English | LILACS | ID: biblio-888310

ABSTRACT

ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.


RESUMO Objetivo Avaliar o envolvimento da substância branca (SB) cerebral em indivíduos com mutação do gene da huntingtina. Métodos Foram avaliados 34 indivíduos: 11 com mutação do gene da huntingtina sintomática, 12 assintomáticos com mutação do gene da huntingtina e 11 indivíduos controles. Realizamos ressonância magnética cerebral para avaliar a integridade da SB usando o tensor de difusão (DTI), com medição da anisotrofia fracionada (FA). Resultados Observamos uma diminuição da FA no trato corticoespinhal, coroa radiada, corpo caloso (joelho, corpo e esplênio), cápsula externa, radiações talâmicas, fascículo longitudinal superior e inferior, e fascículo frontal-occipital inferior no grupo dos indivíduos com mutação sintomática. A redução da FA é indicativa de processo degenerativo e perda axonal. Não houve diferença estatística entre os grupos controle e pré-sintomático. Conclusão Houve comprometimento da integridade da SB em indivíduos com mutação no gene da Huntingtina sintomática, mas outros estudos são necessários para avaliar a sua utilidade na progressão do processo neurodegenerativo.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Magnetic Resonance Imaging/methods , Huntington Disease/genetics , Huntington Disease/diagnostic imaging , Diffusion Tensor Imaging/methods , White Matter/diagnostic imaging , Mutation , Anisotropy , Corpus Callosum/pathology , Mental Status Schedule
17.
Motriz rev. educ. fís. (Impr.) ; 22(4): 261-265, Oct.-Dec. 2016. tab
Article in English | LILACS | ID: biblio-829282

ABSTRACT

ABSTRACT The objective of this study was to compare postural balance among healthy older adults and Parkinson's disease (PD) patients during one-legged stance balance. We recruited 36 individuals of both sexes and divided them into two groups: healthy older adults (HG), and individuals with PD (PG). All the participants were assessed through a single-leg balance test, with eyes open, during 30 seconds (30 seconds of rest across trials) on a force platform. Balance parameters were computed from mean across trials to quantify postural control: center of pressure (COP) area and mean velocity in both directions of movement, anterior-posterior and medial-lateral. Significant differences between-group were reported for area of COP (P=0.002) and mean velocity in anterior-posterior direction (P=0.037), where poor postural control was related to PD patients rather than to healthy individuals. One-legged stance balance was a sensitive task used to discriminate poor postural control in Parkinson individuals.


Subject(s)
Humans , Male , Female , Aged , Parkinson Disease , Physical Therapy Modalities , Postural Balance
18.
Fisioter. pesqui ; 23(4): 410-415, out.-dez. 2016. tab
Article in Portuguese | LILACS | ID: biblio-840577

ABSTRACT

RESUMO O objetivo deste estudo foi avaliar o equilíbrio de pacientes com doença de Parkinson (DP) na posição de tandem com os olhos abertos (OA), olhos fechados (OF) e em condição de dupla tarefa (DT). Trata-se de um estudo transversal composto por 19 indivíduos com DP nos estágios leve a moderado. Os pacientes foram avaliados em uma plataforma de força Biomec400. Os parâmetros analisados foram a área do centro de pressão dos pés (COP) e a amplitude e velocidade do COP nas direções anteroposterior (AP) e mediolateral (ML). Foram encontrados resultados estatisticamente significantes para amplitude AP e ML do COP e da área do COP, com valores maiores para as posições em tandem de OF e tandem com DT, quando comparados com a posição em tandem de OA. Os valores de velocidade média AP e ML foram maiores na posição em tandem de OF em comparação ao tandem de OA (p=0,009 e p=0), respectivamente. Concluiu-se que indivíduos com DP, quando submetidos a desafios cognitivos, comportam-se de forma semelhante à retirada do recurso visual no que diz respeito às alterações de equilíbrio. Isso reforça a necessidade de introduzir no plano terapêutico desses indivíduos atividades que requeiram o treino dessas habilidades.


RESUMEN El propósito de este estudio fue evaluar el equilibrio de pacientes con enfermedad de Parkinson (DP) en la posición tándem con los ojos abiertos (OA), ojos cerrados (OC) y en condición de doble tarea (DT). Se trata de un estudio transversal, del cual participaron 19 personas con DP en etapas leve a moderada. Se evaluaron a los pacientes en una plataforma de fuerza Biomec400. Los parámetros evaluados fueron el área del centro de presión de los pies (COP) y la amplitud y velocidad del COP en las direcciones anteroposterior (AP) y mediolateral (ML). Se encontraron resultados estadísticamente significativos para la amplitud AP y ML del COP y del área del COP, con mayores valores para las posiciones tándem con OC y tándem en DT, en comparación a la posición tándem con OA. Los valores de la velocidad media AP y ML fueron mayores en la posición tándem de OC comparados a la tándem de OA (p=0,009 y p=0, respectivamente). Se concluye que los sujetos con DP, en el momento que se les sometieron a los desafíos cognitivos, se portaron de manera semejante cuando se les taparon los ojos en lo que se refiere a las alteraciones de equilibrio. Este resultado señala la necesidad de introducir en la fisioterapia de los pacientes con DP actividades que les exigen el entrenamiento de estas habilidades.


ABSTRACT This study aimed to evaluate the balance of Parkinson’s disease (PD) patients in Tandem stance with eyes open (EO), eyes closed (EC), and in dual task condition (DT). This is a cross-sectional study, composed of 19 individuals with mild to moderate PD. Patients were evaluated in a BIOMEC400 force platform. The parameters analyzed were: area of the foot center of pressure (COP), COP amplitude and speed, in the anteroposterior (AP) and mediolateral (ML) directions. We found statistically significant results for AP and ML amplitude of the COP and COP area, with higher values for the stances EC Tandem and DT Tandem, when compared with EO Tandem. The values of AP and ML average speed were higher in EC Tandem when compared with EO Tandem (P=0.009 and P=0.000), respectively. We concluded that, when individuals with PD undergo cognitive challenges, they behave as if they were with eyes closed regarding balance changes. This reinforces the need to introduce, in the therapeutic plan of these individuals, activities that require the practice of these skills.

20.
Arq. neuropsiquiatr ; 74(6): 439-444, June 2016. tab
Article in English | LILACS | ID: lil-784186

ABSTRACT

ABSTRACT We intended to evaluate whether non-demented Parkinsons’s disease (PD) patients, with or without subjective cognitive complaint, demonstrate differences between them and in comparison to controls concerning cognitive performance and mood. We evaluated 77 subjects between 30 and 70 years, divided as follows: PD without cognitive complaints (n = 31), PD with cognitive complaints (n = 21) and controls (n = 25). We applied the following tests: SCOPA-Cog, Trail Making Test-B, Phonemic Fluency, Clock Drawing Test, Boston Naming Test, Neuropsychiatric Inventory, Hospital Anxiety and Depression Scale (HADS) and Beck Depression Inventory. PD without complaints presented lower total score on Scales for outcome of Parkinson’s disease-cognition as compared to controls (p = 0.048). PD with complaints group showed higher scores on HADS (p = 0.011). PD without complaints group showed poorer cognitive performance compared to controls, but was similar to the PD with complaints group. Moreover, this group was different from the PD without complaints and control groups concerning mood.


RESUMO Avaliar se pacientes com doença de Parkinson (DP) sem demência, com ou sem queixa cognitiva subjetiva, demonstram diferenças entre eles e comparativamente aos controles relativos a desempenho cognitivo e humor. Avaliados 77 indivíduos entre 30 e 70 anos: PD sem queixas cognitivas (n = 31), PD com queixas cognitivas (n = 21) e controles (n = 25). Testes aplicados: SCOPA-cognição, Trail Making Test-B, Fluência Fonêmica, Teste do Relógio, Teste Nominativo de Boston, Inventário Neuropsiquiátrico, Escala Hospitalar de Depressão e Ansiedade (HADS)e Inventário de Depressão de Beck. PD sem queixas apresentaram menor pontuação total na SCOPA-cognição, comparativamente aos controles (p = 0,048). Por outro lado, PD com queixas apresentaram maior pontuação no HADS (p = 0,011) em comparação aos controles. O grupo PD sem queixas mostrou pior desempenho cognitivo em comparação aos controles, mas foi semelhante ao PD com queixas. Este grupo foi diferente dos grupos PD sem queixas e controle em relação ao humor.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Parkinson Disease/complications , Cognition Disorders/etiology , Mood Disorders/etiology , Agnosia/etiology , Psychiatric Status Rating Scales , Case-Control Studies , Educational Status , Neuropsychological Tests
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