Ataxia, ophthalmoplegia and laryngeal stridor related to glutamic acid decarboxylase antibodies / Ataxia, oftalmoplegia e estridor laríngeo relacionados a anticorpos antidescarboxilase do ácido glutâmico

Glutamic acid decarboxylase (GAD) is the enzyme responsible for the conversion of glutamate to gamma-aminobutyric acid (GABA) in the central nervous system. The presence of anti-GAD antibody in cerebrospinal fluid and high levels in blood have been described in some neurological disorders, such as stiff person syndrome and cerebellar ataxia. It is postulated that African descent with anti-GAD may exhibit more severe neurological impairment. We report a case of a young adult African descent with cerebellar syndrome associ-ated with ophthalmoplegia and laryngeal stridor. We found in the literature relationship of ophthalmoplegia plus ataxia with anti-GAD, but no reports of these symptoms with laryngeal stridor, apparently being the first reported case.

Descarboxilase do ácido glutâmico (GAD) é a enzima responsável pela conversão do glutamato em ácido gama-aminobutírico (GABA) no sistema nervoso central. A presença do anticorpo anti-GAD no líquido cefalorraquidiano e em altos níveis no sangue tem sido descrita em alguns distúrbios neurológicos, tais como a síndrome da pessoa rígida e ataxia cerebelar. Postula-se que pacientes afrodescendentes podem apresentar comprometimento neurológico mais severo. Relatamos o caso de um adulto jovem afrodescendente com síndrome cerebelar associada a oftalmoplegia e estridor laríngeo. Encontramos na literatura relação entre a oftalmoplegia com ataxia e anti-GAD, mas nenhum relato desses sintomas com estridor laríngeo, sendo aparentemente o primeiro caso reportado.

Internal consistency of a Brazilian version of the unified Huntington's disease rating scale

Nosso estudo avaliou a confiabilidade da versão brasileira da escala unificada para avaliação da doença de Huntington (UHDRS) com o objetivo de estabelecer a reprodutibilidade dessa escala em uma população que difere significativamente daquela em que foi originalmente validada. Após um período de treinamento com um vídeo divulgado para esse objetivo e um manual solicitado aos idealizadores da escala, nós aplicamos a UHDRS, com exceção dos testes cognitivos, em um grupo de 21 pacientes brasileiros com diagnóstico molecular de doença de Huntington (DH). Nessa amostra nós encontramos uma elevada consistência interna na seção que avalia os sintomas motores (alfa de Cronbach= 0,841). Observamos uma correlação negativa entre o escore total da escala motora e as escalas de avaliação funcional, de independência e de capacidade funcional total; uma correlação positiva entre essas 3 últimas escalas; e uma correlação negativa entre a idade de início dos sintomas e o número de repetições CAG. As características clínicas dessa amostra de pacientes descritas segundo a UHDRS é de maneira comparativa similar às descritas nos estudos originais de validação da escala, assim como as correlações descritas são semelhantes às descritas previamente. Concluimos que a versão brasileira da UHDRS é confiável e válida para estudar pacientes com DH aqui no Brasil, que essa amostra, como era esperado, tem características semelhantes às descritas em outras regiões do mundo, e que o método utilizado para treinamento da aplicação da escala é válido.

Método piel a piel. Evaluación del neurocomportamiento hasta el año de edad corregida / Kangaroo mother care method. Evaluation of the neurodevelopment at first year of corrected age

Con el objetivo de evaluar el neurocomportamiento al aplicar el test de Bayley en prematuros atendidos por el método piel a piel durante su primer año de vida, se analizaron 120 nacidos vivos en el Hospital Ginecoobstétrico "Justo Legón Padilla" de Pinar del Río, desde el 1 de enero hasta el 30 de junio de 2000 (grupo de estudio). El grupo control estuvo formado por los niños prematuros nacidos vivos entre el 1 de julio y el 31 de diciembre de 2000, atendidos por el método tradicional. A toda la muestra se le aplicó un formulario donde se recogieron todos los resultados de la historia clínica, principalmente morbilidad y asfixia perinatal, además de su seguimiento nutricional y neurológico en consulta, donde se les aplicó el test de Bayley a los 6 y 12 meses de edad gestacional corregida. Se elaboró una base de datos en Microsoft Excel-2000; se aplicó la prueba de chi cuadrado, con un intervalo de confianza de p < 0,05. Se observó que existieron diferencias significativas en el neurocomportamiento de los prematuros atendidos por el método piel a piel al compararlos con los que siguieron el método tradicional.

Poor diagnostic accuracy and applicability of Siriraj stroke score, Allen score and their combination in differentiating acute haemorrhagic and thrombotic stroke.

OBJECTIVE: To evaluate the relevance of bed side clinical diagnostic scoring systems--Siriraj stroke score (SSS), Allen score and their combined use for differentiating acute haemorrhagic and thrombotic stroke. MATERIAL AND METHODS: The study was conducted on 240 admitted patients of stroke over a period of two years. SSS was calculated immediately and Allen score, 24 hours after admission. CT scan was done immediately and 48 hours after admission if required. The sensitivity, specificity, positive predictive value, negative predictive value and diagnostic gain were calculated for both the scores. Comparability between the scores and CT scan finding was determined with the help of kappa statistic programme. Receiver operating characteristic curves (ROC) were plotted to assess the diagnostic accuracy of both scores over a range of cut-off points. RESULTS: One hundred and thirty four patients (55.83%) had infarction and 106 patients (44.17%) had haemorrhage. SSS was applicable in 66.25% patients (159 out of 240) while Allen score was applicable in only 61.25% patients (147 our of 240). The sensitivity, specificity, positive predictive value, negative predictive value and diagnostic gain for SSS were 73%, 85%, 85%, 71% and 30% for infarction and 85%, 73%, 71%, 85% and 27% for haemorrhage respectively, whereas the corresponding figures for Allen score were 91%, 60%, 77%, 82% and 18% for infarction and 60%, 91%, 82%, 77% and 41% for haemorrhage respectively. There was overall moderate comparability between SSS and Allen score for diagnosing supratentorial stroke (k = 0.396). The comparability of these scores in terms of certain results was worse (k = 0.143). However when the results that were within the diagnostic range with both the scores were considered, the agreement in diagnosing infarction and haemorrhage was almost perfect (k = 0.874). While considering CT scan finding as gold standard for differentiation of infarction and haemorrhage, the overall accuracy of SSS and Allen score was seventy eight percent. CONCLUSION: (a) Applicability of SSS only in 66.25% patients and wrong diagnosis in 22.01% patients does not reflect its usefulness because adequate management of stroke requires a gold standard diagnosis which is only possible by immediate CT scan. (b) Allen score is not useful because it can be assessed only after 24 hours of onset of stroke. This deprives the management to all thrombotic patients in speculated time window of modern management.

Estudio descriptivo de la población adjunta al programa de patología psicoorgánica en el consultorio externo del Instituto Psiquiátrico Dr. José Horwitz Barak / Descriptive study of attached population to the psychoorganic pathology programme in the external consultory of the Psychiatry Institute José Horwitz Barak MD

Se investigaron las características sociodemográficas y clínicas de 435 pacientes, elegidos al azar, que se encontraban en control periódico en el programa de patología pscioorgánica durante el año 1991. La información fue obtenida de las fichas clínicas, a través de un instrumento elaborado por las autoras. Se encontraron a lo menos tres grupos clínicos distintos: 1)oligofrénicos, 2)demencias y 3)grupo con otro diagnóstico psiquiátrico y demencia. La sintomatología principal de los oligofrénicos fueron las alteraciones conductuales y en las demencias los síntomas afectivos. Evaluaciones sistématicas de las funciones corticales superiores y exámenes complementarios se encontraron en un mínimo de pacientes. El tratamiento fue polifarmacológico, constituido principalmente por neurolépticos y benzodiazepinas. Se sugiere un manejo diferencial y protocolizado en el control futuro de estos pacientes

Comparison of Siriraj and Guy's Hospital score to differentiate supratentorial ischaemic and haemorrhagic strokes in the Indian population.

In India, 70% of the population does not have access to computerised brain scanning. Siriraj score is a safe and reliable clinical method to asses acute stroke syndrome. 160 patients with acute stroke were analysed by Siriraj and Guy's hospital stroke score simultaneously. CT Scan was performed in all and subarachnoid haemorrhage was excluded. Ninety two patients (57.5%) had infarction and 68 (42.5%) had haemorrhage. Siriraj score formula revealed haemorrhage in 53 (80%) and infarction in 78 (83%), while in the rest the results were equivocal or incorrect. Guy's hospital score revealed haemorrhage in 45 (66%) and infarction in 59 (69%). Clinical features are also helpful in differentiating infarction from haemorrhage, but the accuracy is not as high as with Siriraj score and secondly Siriraj score is a very simple formula in comparison to Guy's score.

Monitoría intensiva neurodiagnóstica para pacientes con epilepsia complicada: experiencia con los primeiros cincuenta pacientes en el Hospital Municipal de San Juan / Intensive neurodiagnostic monitoring for patients with complicated epilepsy: our experience with the first 50 patients in the San Juan City Hospital

Estudio descriptivo para reportar los hallazgos más importante durante la admisión de los primeros cincuenta pacientes a la Unidad de Monitoría Intensiva de epilepsia. Por ejemplo: Razón de referido, historial, distribución por edad y sexo, factores precipitantes y hallazgos de estudios diagnósticos. Se evidencia la utilidad de monitoría intensiva en el diagnóstico y manejo de pacientes con epilepsia complicada, en la diferenciación de episodios que sugieren ser epilepsia y en el diagnóstico de otras condiciones neurológicas como lo son desórdenes de movimiento, tics y otros. Con la utilización de esta técnica, el 68% de los pacientes fueron diagnosticados correctamente, lo cual permitió la recomendación del régimen terapéutico óptimo