Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies / Características clínicas de pacientes com ataxia cerebelar associada a anticorpos anti-GAD

ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia associated with the GAD antibody (CA-GAD-ab) being a rare, albeit increasingly detected condition. Few cases of CA-GAD-ab have been described. Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. Conclusion CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.

RESUMO A enzima ácido glutâmico descarboxilase (GAD), presente nos neurônios GABAérgicos e células beta do pâncreas, catalisa a conversão do ácido gama-aminobutírico (GABA). O cerebelo é altamente susceptível a mecanismos imunomediados, sendo a ataxia cerebelar associada ao anticorpo anti-GAD (CA-GAD) uma doença potencialmente tratável. Embora rara, sua frequência é crescente, com poucos casos descritos. Métodos Estudo retrospectivo e descritivo avaliando características clínicas e desfechos da CA-GAD. Resultados Três pacientes com CA-GAD, altos títulos de anti-GAD e doença endócrina autoimune foram identificados. Os pacientes 1 e 2 tinham síndrome da pessoa rígida em forma clássica e apresentação insidiosa da ataxia cerebelar, enquanto o paciente 3 tinha ataxia cerebelar pura e apresentação subaguda. Os pacientes 1 e 3 não melhoraram com imunoglobulina intravenosa e o paciente 2 teve recuperação parcial. Conclusão A CA-GAD é rara e pode ter apresentação clínica desafiadora. Os médicos devem ser capazes de reconhecer essa forma potencialmente tratável de ataxia cerebelar autoimune.

The validity and reliability of the portuguese versions of three tools used to diagnose delirium in critically ill patients

OBJECTIVES: The objectives of this study are to compare the sensitivity and specificity of three diagnostic tools for delirium (the Intensive Care Delirium Screening Checklist, the Confusion Assessment Method for Intensive Care Units and the Confusion Assessment Method for Intensive Care Units Flowsheet) in a mixed population of critically ill patients, and to validate the Brazilian Portuguese Confusion Assessment Method for Intensive Care Units. METHODS: The study was conducted in four intensive care units in Brazil. Patients were screened for delirium by a psychiatrist or neurologist using the Diagnostic and Statistical Manual of Mental Disorders. Patients were subsequently screened by an intensivist using Portuguese translations of the three tools. RESULTS: One hundred and nineteen patients were evaluated and 38.6 percent were diagnosed with delirium by the reference rater. The Confusion Assessment Method for Intensive Care Units had a sensitivity of 72.5 percent and a specificity of 96.2 percent; the Confusion Assessment Method for Intensive Care Units Flowsheet had a sensitivity of 72.5 percent and a specificity of 96.2 percent; the Intensive Care Delirium Screening Checklist had a sensitivity of 96.0 percent and a specificity of 72.4 percent. There was strong agreement between the Confusion Assessment Method for Intensive Care Units and the Confusion Assessment Method for Intensive Care Units Flowsheet (kappa coefficient = 0.96) CONCLUSION: All three instruments are effective diagnostic tools in critically ill intensive care unit patients. In addition, the Brazilian Portuguese version of the Confusion Assessment Method for Intensive Care Units is a valid and reliable instrument for the assessment of delirium among critically ill patients.

Importância da monitorização do delirium na unidade de terapia intensiva / The importance of delirium monitoring in the intensive care unit

O delirium é um estado confusional agudo associado a maior mortalidade na unidade de terapia intensiva e comprometimento da recuperação funcional em longo prazo. Apesar de sua elevada incidência e relevante impacto nos desfechos de pacientes criticamente enfermos, o delirium continua sendo sub-diagnosticado. Atualmente existem instrumentos validados para diagnosticar e monitorar o delirium, permitindo a detecção precoce dessa disfunção orgânica e início precoce do tratamento. Além dos fatores de risco não modificáveis do paciente, existem aspectos clínicos e ambientais modificáveis que devem ser avaliados para reduzir a ocorrência e gravidade do delirium. Conforme demonstrado por estudos recentes, intervenções para reduzir a exposição a sedatição excessiva e melhorar a orientação do paciente podem estar associadas a redução da incidência de delirium. Baixa incidência de delirium deve ser almejada e considerada como uma medida da qualidade nas unidades de terapia intensiva.

Delirium is an acute confusional state associated with increased mortality in the intensive care unit and long-term impaired functional recovery. Despite its elevated incidence and major impact in the outcomes of critically ill patients, delirium remains under-diagnosed. Presently, there are validated instruments to diagnose and monitor delirium, allowing the detection of early organ dysfunction and treatment initiation. Beyond patient's non-modifiable risk factors, there are modifiable clinical and environmental aspects that should be accessed to reduce the occurrence and severity of delirium. As recent studies demonstrate that interventions aiming to reduce sedative exposure and to improve patients' orientation associated with early mobility have proved to reduce delirium, a low incidence of delirium should be targeted and considered as a measure of quality of care in the intensive care unit (ICU).

Os riscos do exercício excessivo na esclerose lateral amiotrófica: atualização da literatura / Risks of overuse in Amiotrophic Lateral Sclerosis: update

A Esclerose Lateral Amiotrófica (ELA) é uma doença inexorável e degenerativa que afeta os neurônios motores superiores e inferiores, levando à morte cerca de dois a quatro anos após o início das primeiras manifestações. A proposta do presente artigo será apresentar, com base naliteratura vigente, um panorama das principais técnicas utilizadas e resultados de estudos acerca da reabilitação física desses pacientes. Os exercícios terapêuticos devem ser prescritos e encarados como uma maneira de melhorar a qualidade de vida dos pacientes, sendo os objetivosdirecionados para um melhor desempenho nas atividades básicas e instrumentais da vida diária. Os profissionais engajados na reabilitação física devem auxiliar os pacientes e os cuidadores na luta diária contra as perdas proporcionadas pela doença, decorrentes do comprometimento damotricidade voluntária.

Amyotrophic Lateral Sclerosis (ALS) is a fatal degenerative disease that affects upper and lower neurons and takes approximately two to four years between the first sign and symptoms to death. The aim of the present study is to present the main interventions used in physicalrehabilitation and their results in patients with ALS. The therapeutic exercises should be prescribed with the objective to improve the patient?s quality of life and enhance the performance during basic and instrumental daily activities. The professionals involved in physical rehabilitationshould aid patients and caregivers to overcome their difficulties, especially those related to voluntary motor impairments.