Performance of Two Commercial Assays for the Detection of Serum Galactomannan in Non-Neutropenic Patients.

Besides the relevance of aspergillosis in neutropenic patients, this mycosis has gained significance among non-neutropenic patients in last years. The detection of galactomannan has been used for aspergillosis diagnosis and follow-up in neutropenic patients. This study evaluated the applicability of two commercial tests for galactomannan detection in non-neutropenic patients with different clinical forms of aspergillosis.

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause of familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion.

Objectives: The objective of the study was to investigate potential MKRN3 sequence variations as well as copy number and methylation abnormalities of the 15q11 locus in patients with apparently sporadic CPP.