RESUMO
Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex.
Assuntos
Esclerose Lateral Amiotrófica/genética , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas Adaptadoras de Transdução de Sinal , Idoso , Esclerose Lateral Amiotrófica/patologia , Encéfalo/patologia , Análise Mutacional de DNA/métodos , Complexos Endossomais de Distribuição Requeridos para Transporte , Proteína Glial Fibrilar Ácida/metabolismo , Glutamina/genética , Histidina/genética , Humanos , Imuno-Histoquímica/métodos , Isoleucina/genética , Masculino , Proteínas do Tecido Nervoso/metabolismo , Proteínas de Neurofilamentos/metabolismo , Fenótipo , Proteínas/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Proteína Sequestossoma-1 , Medula Espinal/patologia , Ubiquitina/metabolismo , Valina/genética , alfa-Sinucleína/metabolismo , Proteínas tau/metabolismoRESUMO
X-rays taken for ankle trauma contribute significantly to the cost of health care in this country. In an attempt to find clinical correlates of ankle fracture 36 detailed historical and physical examination variables were collected from 587 consecutive patients with ankle trauma, and ankle x-rays were taken of all patients. The association of each variable with the final diagnosis of fracture, rupture, or sprain was tested; 21 variables were significant predictors of fracture (vs. sprain and rupture) and 15 were not significantly associated with final diagnosis. The variables were used in a linear discriminant analysis to develop a rule which would predict the final diagnosis. If only those patients predicted by the rule to have fractures had been x-rayed, all patients with fracture would have been identified but more than a fourth of all ankle trauma patients would have been spared x-rays. This compares favorably with a recently published rule that did not assess sensitivity. A simulated prospective evaluation suggests that these results are stable, but that up to 10% of the fractures could be missed on the first visit. Although current practice is not well documented, it appears that use of this rule could yield substantial cost savings.
