Osteoporosis as the sole manifestation of systemic mastocytosis in a young man.

Objective: To highlight the difficulty involved in making a diagnosis of systemic mastocytosis (SM) when it manifests solely as osteoporosis.

Methods: We present a detailed case report and review the literature regarding the work-up of secondary osteoporosis and the diagnosis and treatment of SM. Other cases of SM presenting as osteoporosis in male patients are also described.

Two-temperature LATE-PCR endpoint genotyping.

Background: In conventional PCR, total amplicon yield becomes independent of starting template number as amplification reaches plateau and varies significantly among replicate reactions. This paper describes a strategy for reconfiguring PCR so that the signal intensity of a single fluorescent detection probe after PCR thermal cycling reflects genomic composition. The resulting method corrects for product yield variations among replicate amplification reactions, permits resolution of homozygous and heterozygous genotypes based on endpoint fluorescence signal intensities, and readily identifies imbalanced allele ratios equivalent to those arising from gene/chromosomal duplications.