Publications by authors named "Richard Rosenbaum"

A simple, accurate, and reproducible HPLC-UV method has been developed and validated for the quantification of levodopa (l-Dopa) in human plasma. The method involves a simple protein precipitation procedure to extract both l-Dopa and methyldopa, the internal standard. The chromatographic analysis was achieved on a Shimadzu LC 20A HPLC system equipped with a Zorbax Eclipse XDB C column and an isocratic mobile phase consisting of 20 mm KH PO (pH 2.

View Article and Find Full Text PDF

Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome. The variants described in this manuscript represent the analysis of 2,515 patients referred for UBE3A gene sequencing at our institution, along with a comprehensive review of the UBE3A mutation literature.

View Article and Find Full Text PDF

The preeminence of science in the United States is endangered for multiple reasons, including mediocre achievement in science education by secondary school students. A group of scientists at Oregon Health and Science University has established a class to teach the process of scientific inquiry to local high school students. Prominent aspects of the class include pairing of the student with a mentor; use of a journal club format; preparation of a referenced, hypothesis driven research proposal; and a "hands-on" laboratory experience.

View Article and Find Full Text PDF

Many neuromuscular conditions occur more frequently during pregnancy and include carpal tunnel syndrome, Bell's palsy, lumbosacral radiculopathy, meralgia paresthetica, intercostal neuralgia, and other compression neuropathies. Preexisting or coincident neuromuscular diseases, including demyelinating polyneuropathies, inflammatory muscle disease, myasthenia gravis, and inherited nerve and muscle disease present specific problems during pregnancy. We review management of neuromuscular disorders during pregnancy, labor, delivery, and the early postpartum period.

View Article and Find Full Text PDF