FUNDUS FINDINGS IN A PATIENT WITH α-METHLYACYL-COA RACEMASE DEFICIENCY.

Purpose: To describe the ocular findings in a patient with α-methylacyl-CoA racemase deficiency.

Methods: Case report.

Results: A 45-year-old white man presented with seizures, hemiparesis, and altered mental status.

The peripheral neuropathy evaluation in an office-based neurology setting.

Peripheral neuropathy is the most common neuromuscular disorder encountered in a neurologic practice. The evaluation of patients with suspected peripheral neuropathy can be a challenging endeavor for the neurologist. Determining the pattern of clinical involvement and the nerve modalities affected can help to generate a differential diagnosis and design an approach to determine a potential cause.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

α-Methyl-acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.

Efflux of drugs and solutes from brain: the interactive roles of diffusional transcapillary transport, bulk flow and capillary transporters.

We examined the roles of diffusion, convection and capillary transporters in solute removal from extracellular space (ECS) of the brain. Radiolabeled solutes (eight with passive distribution and four with capillary or cell transporters) were injected into the brains of rats (n=497) and multiple-time point experiments measured the amount remaining in brain as a function of time. For passively distributed compounds, there was a relationship between lipid:water solubility and total brain efflux:diffusional efflux, which dominated when k(p), the transcapillary efflux rate constant, was >10(0) h(-1); when 10(-1) View Article and Find Full Text PDF

Isolation of drug delivery from drug effect: problems of optimizing drug delivery parameters.

A recurring question in the treatment of malignant brain tumors has been whether treatment failure is due to inadequate delivery or ineffective drugs. To isolate these issues, we tested a paradigm in which the "therapeutic" agent was a toxin about which there could be no question of efficacy, provided it was delivered in adequate amounts; we used 10% formalin. We infused 10% formalin into 5- to 8-mm subcutaneous RG-2 and D54-MG gliomas at increasing rates until we achieved 100% tumor cell kill.