About Brian Moore
| No biographical information is available for this author. |
| No biographical information is available for this author. |
The patient is a 75-year-old male who reported to his ophthalmologist complaining of failing vision as well as intermittent “flashes of light” in his left eye over the previous four months. Examination of the left eye revealed markedly elevated intraocular pressure. Fundiscopic examination revealed a large grayish brown subretinal mass with surrounding retinal folds in [...]
An 8-year-old girl presented with lack of coordination of the right arm and leg progressing over the course of six months. Occasionally, the girl would hold her right arm in a postured decorticate position when she would run; and she would suffer frequent falls when playing. Physical examination showed right-sided hemidystonia and rigidity. An MRI [...]
Most of us accept the party line that there are three basic forms of Creutzfeldt-Jakob disease (CJD): acquired, inherited, and sporadic. The general neurology and neuropathology textbooks do not acknowledge that the very existence of sporadic CJD is controversial. But D.T. Max (picture from nytimes.com), in his book The Family That Couldn’t Sleep: A Medical [...]
According to an associated press report, the gargantuan defensive tackle William “The Refrigerator” Perry (pictured below), who helped lead the Chicago Bears to a 1985 Super Bowl victory, has been hospitalized after complications related to Guillain-Barré syndrome (GBS). Perry remains in serious condition at Aiken Regional Medical Center, located in his boyhood home of Aiken, [...]
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 [...]
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