Non-specific symptomatogy presenting in a patient with Gaucher's disease creating a challenging diagnosis: a case report.

Gaucher's disease is the most common of the lysosomal storage diseases; however, with a current worldwide incidence of 1/75,000, it is still a rare occurrence. We present a case of Gaucher's disease type 1 in a Hispanic patient, the first incidence of this specific subtype of Gaucher's disease to be reported in Puerto Rico. Due to the patient's uncharacteristic presentation of negative initial bone marrow biopsy followed by the findings of Gaucher cells on splenic tissue examination, we investigate the specificity and sensitivity of various diagnostic methods to the disease as evidenced in the current literature.

CYP2C9 polymorphisms: considerations in NSAID therapy.

The increased focus on safety in clinical trials represents a formidable hurdle regarding the availability of marketed drugs. The lengthy experimental process of ensuring the safety of a drug creates a need for faster, more efficient identification of drug toxicities. Profiling for individual genetic variability could be an essential screening process for potential adverse effects, especially within different ethnic populations.