RESUMO
We studied quantitative electroencephalogram and neuropsychological performance in an aging series of 31 patients with Down's syndrome and compared the findings with those of 36 patients with probable Alzheimer's disease and age-matched controls. We found an age-related decline of cortical functions and slowing of the electroencephalogram in Down's syndrome patients aged from 20 to 60 years. Slowing of the electroencephalogram, i.e. the decrease of the peak frequency, was significantly related to Mini-Mental status scores, and visual, praxic and speech functions, as well as memory in the Down patients, similar to the Alzheimer patients. Similar correlations were not demonstrated for young or elderly controls. This study provides neuropsychological and electrophysiological data to suggest that studying Down's syndrome patients of different ages can serve as a model for progression of Alzheimer's disease.
Assuntos
Envelhecimento/psicologia , Doença de Alzheimer/fisiopatologia , Cognição/fisiologia , Síndrome de Down/fisiopatologia , Eletroencefalografia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/psicologia , Amiloide/metabolismo , Síndrome de Down/psicologia , Feminino , Análise de Fourier , Humanos , Masculino , Memória/fisiologia , Pessoa de Meia-Idade , Modelos Biológicos , Testes NeuropsicológicosRESUMO
Esthesioneuroblastoma is a rare tumor in children, and the correct diagnosis may be difficult, as is demonstrated in this case report. A 5-year-old girl was diagnosed with this tumor, which was incurable and behaved like a neuroblastoma, sending metastases to the bone marrow and invading the cranium and the spinal canal.
Assuntos
Doenças da Medula Óssea/etiologia , Tumores Neuroectodérmicos Primitivos Periféricos/patologia , Neoplasias Nasais/patologia , Neoplasias da Medula Espinal/secundário , Pré-Escolar , Feminino , Humanos , Metástase NeoplásicaRESUMO
The role of genetic factors in the etiology of the autistic spectrum of disorders has clearly been demonstrated. Ten chromosomal regions, on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q have potentially been linked to autism.1-8 We have analyzed these chromosomal regions in a total of 17 multiplex families with autism originating from the isolated Finnish population by pairwise linkage analysis and sib-pair analysis. Mild evidence for putative contribution was found only with the 1p chromosomal region in the susceptibility to autism. Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population.