Use of Objective Outcomes Measures to Verify the Effects of ICF-Based Gait Treatment in Huntington's Disease Patient on Globus Pallidus Deep Brain Stimulation: A Case Report.

In advanced stages of in Huntington's disease (HD) gait impairments and severe chorea are usually medication-refractory. The long-term effects on gait in HD of physiotherapy ICF-based management post- globus pallidus deep brain stimulation (GPi DBS) are not well-established. Physiotherapy has been recognized as an essential element in HD treatment. Here, we present a case report of a 56-year-old woman with HD on the advanced stage and severe chorea medication-refractory after GPi-DBS. We performed multidisciplinary motor assessments ICF-based to identify the disability at clinical and home-setting, including environmental and personal factors before and after GPi-DBS surgery and at 11-time points follow-up. The surgery was very successful and directly post GPi-DBS, there were a significant improvement in chorea and a substantial decrease in medication dose. A framework ICF- based physiotherapy protocol with external cues was developed to improve gait was delivered post-surgery and was continued three times/week during 18-months. Physiotherapy sessions consisted of a personalized protocol of exercises with functional movements, balance, and gait training with external cues. Improvements in gait were observed in 3-months post-intervention and were more expressive in 6-months follow-up. Our patient improved substantially HD motor symptoms and her quality of life after GPi-DBS intervention and a physiotherapy program ICF-based. The objective outcomes measures used to assess gait have served as endpoints to assessing the patient's motor profile during the pre-operative period. Assessments were helpful to verify the efficacy of the multidisciplinary intervention in long-term. Conclusion: Periodically assessing function and disability using outcome improvements may support clinicians' decisions about DBS, medication adjustments and guide physiotherapists to personalize the ICF-based intervention.

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.

BACKGROUND: Little is known about the organization of clinical services for Huntington's disease (HD). OBJECTIVE: To describe how health care services are organized and delivered in HD-clinics taking part in or eligible for the Enroll-HD study. METHODS: In 2014, a 69-item survey was administered to sites taking part in or eligible for the Enroll-HD study. RESULTS: Of 231 sites surveyed, 121 (52.2%) sites in Europe, North America, Latin America, and Oceania responded. Most sites in the sample serve large populations, with 61.1% serving more than 1.5 million people, and a further 33% serving >500,000. Almost all (86.0%) centers see patients from outside their region. The majority of centers (59.7%) follow 50-199 patients, 21.9% care for more than 200. Most centers provide care in all stages of HD, and nearly all review pre-symptomatic cases. Multidisciplinary case reviews are offered in 54.5% of sites, with outreach clinics offered by 48.1%. Videoconferencing and telemedicine are used by 23.6%. Separate consultations for caregivers are offered in more than half of the centers. Most centers (70.4%) report following published guidelines or local care pathways for HD. CONCLUSIONS: Most centers serve a large population and use a multidisciplinary approach. The survey gives insight into factors underpinning HD service delivery globally. There is a need for more in-depth studies of clinical practice to understand how services are organized and how such features may be associated with quality of care.

Wilson's disease: magnetic resonance imaging (MRI) with clinical correlations in 16 cases

The purpuse of this study was to evaluate MRI findings in a group of patients with Wilson's disease, trying to establish possible correlations between clincial and image data. Sixteen patients (8 males and 98 females), with ages ranging from 11 to 50 years, and duration of illness ranging from 5 months to 32 years, were submitted to MRI in a 1.5T System. Four patients were asymptomatic, 4 had mild neurological findings, 2 were moderatedly affected and the remaining 6 had a severe form of the disease. All patients were receiveing D-penicillamine by the time of the study. The most symptomatic patients presented five or more sites of abnormalities on MRI. the putamen was affected in all symptomatic individuals and one asymptomatic and 11 of them presented dystonia on neurological examination. A striking feature was the peripheral localization of putaminal hyperintense lesions on T2 weighted images. In eight cases, striatum or "substantia nigra lesions explained parkinsonism observed on neurological examination. MRI seems to be an efficient method to study neurological involvement of Wilson's disease allowing some interesting anatomo-clincial correlations

Parkinsonismo secundário a exposiçäo a óxido de etileno: registro de caso / Parkinsonism secondary to ethylene oxide exposure: case report

Parkinsonismo consequente a intoxicaçöes exógenas tem sido relatado desde o início do século. Os agentes mais comumente implicados säo o manganês, o monóxido de carbono e o sulfureto de carbono. No presente relato descreve-se síndrome parkinsoniana consequente a exposiçäo aguda ao óxido de etileno. Manifestaçöes neurológicas como neuropatia periférica e distúrbios cognitivos relacionados à exposiçäo a este gás foram previamente descritas, porém näo foi encontrada na literatura registro de parkinsonismo consequente a esse tipo de intoxicaçäo exógena

Traumatic callosotomy

Uma paciente epiléptica jovem foi vítima de queda de certa altura após crise tônico-clônica generalizada. Foi admitida em coma no Setor de Emergência. Sua investigaçäo clínico-radiológica mostrou presença de hematomas interhemisféricos, extensa secçäo traumática do corpo caloso e contusöes fronto-basais. A despeito de hemiparesia residual, sua investigaçäo neuropsicológica näo mostrou sinais de desconexäo hemisférica, compatível à integridade da regiäo do esplênio ao exame de RMN. Após o trauma, a paciente apresentou grande melhora da síndrome epiléptica. O papel relativo de cada uma das lesöes traumáticas é difícil de ser inferido, em se tratando de lesäo cerebral múltipla. O provável mecanismo fisiolpatológico deve incluir impacto direto do corpo caloso contra a foice, além de mecanismos de aceleraçäo/desaceleraçäo

O zinco no tratamento de degeneraçäo hepatolenticular: a propósito de 3 casos / The zinc in the treatment of hepatolenticular degeneration: apropos of 3 cases

Säo descritos três casos de degeneraçäo hepatolenticular (DHL) em que o efeito nefrotóxico da D-penicilina (DO) levou à substituiçäo dessa droga por zinco, com resultados satisfatórios. O tempo médio de tratamento com zinco nos casos descritos foi de 2 anos e 7 meses. Com base nos dados de literatura e na experiência com esses pacientes, os autores consideram que os sais de zinco podem ser uma alternativa para o tratamento da DHL quando a DP determina o aprecimento de efeitos colaterais graves que levam à sua retirada definitiva

Knowledge about epilepsy among teachers and epileptic patients

223 pacientes epiléptico e suas famílias e 136 professores da rede pública e privada foram submetidos a questionários similares que incluíam questöes relacionadas à hereditariedade, transmissibilidade, cura, complicaçöes, cuidados durante as crises, necessidade de informaçöes acerca da doença, Hábitos, comparaçöes com outras doenças e performances sociais e educacionais de epilépticos. Taxas presumidas de cura e complicaçöes representaram a maior diferença entre as duas populacöes. Epilépticos reconhecem um maior número de complicaçöes mas persistem acreditando na cura de sua moléstia. A maioria dos professores e pacientes jamais havia recebido qualquer informaçäo sobre epilepsia e isto possivelmente relacicona-se às respostas equívocas que foram obtidas. Em suma, os dados sugerem que as performances sociais e educacionais de pacientes epilépticos podem ser modificadas por parâmetros médicos e sociais, alguns dos quais podem ser melhorados através de um programa educacional direcionado aos aspectos sociais das epilepsias

Eating epilepsy

A epilepsia reflexa ao comer é uma rara de epilepsia reflexa. Um paciente de 24 anos com crises parciais complexas reflexas ao comer foi submetido a avaliaçöes clínica, neurológica neurorradiológica e eletrencefalográfica. O exame neurológico e a tomografia de crânio foram normais. Registros de EEG, incluindo menitorizaçäo vídeo-EEG durante a refeiçäo, mostraram presença de anormalidades focais relacionadas a ambos os lobos temporais, predominando à esquerda, e sincronia bilateral secundária, predominando em regiöes anteriores. Os achados ictais säo semelhantes à sincronia bilateral secundária interictal exceto por sua maior duraçäo. Monoterapias com PB, DPH e VPA näo surtiram efeito. Monoterapia com altas doses de CBZ trouxe bons resultados porém com controle incompleto das crises. Como grande número de fatores precipitantes estava potencialmente envolvido, näo foi possível determinar com precisäo a base fisiopatológica das crises reflexas neste caso