One of our lab techs posed a question about beta-2 transferrin testing on cerebrospinal fluid (CSF). Because beta-2 transferrin is a normal constituent of CSF, but not of plasma or mucosal secretions, it is useful in determining whether a patient’s nose or ear is leaking CSF versus some other fluid. This is important in determining [...]
We received a muscle biopsy recently from a 5-year-old girl who was likely a dystrophin mutation carrier. Her muscle biopsy displayed a patchwork pattern of dystrophin positive and dystrophin negative muscle fibers. Utrophin was upregulated in fibers deficient for dystrophin. So, what is utrophin? It is the autosomal homologue of dystrophin. To quote the Dubowitz [...]
A muscle biopsy from 16-year-old girl with exercise intolerance and no family history of muscular dystrophy was received by my institution several months ago. Laboratory studies showed that the girl had elevated creatinine kinase and liver enzyme levels. In consultation with Dr. Steven A. Moore at the University of Iowa, it was determined that the [...]
© pathtalk.org || Terms of use.