Ovarian vein sampling, and serum and urine testosterone monitoring in ovarian Leydig cell tumors: A report of two cases.

Background: Ovarian Leydig cell tumors are rare, testosterone-producing tumors that pose diagnostic challenges.

Cases: A 36-year-old woman presented with 10 years of amenorrhea, facial hair growth and clitoromegaly. A 59-year-old woman presented after 2 years of voice deepening and terminal hair growth.

A high-throughput screening assay using Krabbe disease patient cells.

Globoid cell leukodystrophy (GLD) or Krabbe disease is a lysosomal disease caused by β-galactocerebrosidase (GALC) deficiency resulting in a rapidly progressive neurodegenerative disorder. Unfortunately, the only available treatment is hematopoietic bone marrow transplantation, which prevents its fulminant manifestation but without treating further neurological manifestations. Here, we describe the development of a cellular high-throughput screening (HTS) assay using GLD patient fibroblasts to screen for small molecules that enhance the residual mutant GALC enzymatic activity.

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.

Small molecules have been identified as potential therapeutic agents for lysosomal storage diseases (LSDs), inherited metabolic disorders caused by defects in proteins that result in lysosome dysfunctional. Some small molecules function assisting the folding of mutant misfolded lysosomal enzymes that are otherwise degraded in ER-associated degradation. The ultimate result is the enhancement of the residual enzymatic activity of the deficient enzyme.