Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.

BACKGROUND: Machado-Joseph disease (MJD) is a type of autosomal dominant spinocerebellar ataxia for which molecular diagnosis is available. We identified 4 families segregating the MJD mutation in which no unequivocal clinical diagnosis could be established prior to molecular testing. Ethnic background, clinical, and molecular characteristics of 19 individuals carrying the MJD mutation in these 4 families were compared with a group of 32 Portuguese families who were clinically diagnosed as having MJD and were found to carry the MJD mutation. RESULTS: Several factors seemed to have an impact in the accuracy of the clinical diagnosis, such as ethnic origin; the number of affected individuals available for examination in each family; the absence of patients showing specific clinical features, such as extrapyramidal signs; and the size of the expanded CAG repeat in the MJD gene. CONCLUSION: Since the recognition of MJD based solely on clinical grounds might sometimes be misleading, a search for the MJD mutation should be performed in patients with a clinical diagnosis of spinocerebellar degeneration.

Efficiency analysis of a multi-specialty telemedicine service.

OBJECTIVE: The goal of this project was to assess case turn-around times for store-and-forward and real-time video consultations in the Arizona Telemedicine Program. MATERIALS AND METHODS: Five components contributing to total case turn-around time were analyzed. Each parameter was submitted to statistical analysis and compared for store-and-forward and real-time sessions. RESULTS: Turn-around for real-time are longer than for store-and-forward sessions. Real-time sessions take longer, from when the consulting clinician is contacted to the time the case is reviewed. This is compounded by the fact that real-time sessions sometimes need to be rescheduled. For both types of consults, the time to deliver the final report is the longest segment of the total turn-around time. CONCLUSION: Several factors contribute to case turn-around times. By identifying and analyzing each contributing factor, it is possible to revise consult protocols to improve efficiency.