Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).

Safety of Obtaining an Extra Biobank Kidney Biopsy Core.

Background And Objectives: Kidney biopsy (KB) is the "gold standard" for the diagnosis of nephropathies and it is a diagnostic tool that presents a low rate of complications. Nowadays, biobank collections of renal tissue of patients with proven renal pathology are essential for research in nephrology. To provide enough tissue for the biobank collection, it is usually needed to obtain an extra kidney core at the time of kidney biopsy.

The PGRS domain of Mycobacterium tuberculosis PE_PGRS Rv1759c antigen is an efficient subunit vaccine to prevent reactivation in a murine model of chronic tuberculosis.

A third of the world population is latently infected with Mycobacterium tuberculosis and many cases of active tuberculosis arise from latent bacilli reactivation. Thus, it is important to design new vaccines to prevent reactivation. Using an experimental model of chronic tuberculosis in B6D2F1 mice, we observed constant expression of Rv1759c antigen, a member of the PE_PGRS gene family, on the cell wall of phagocytosed mycobacteria by activated macrophages located in lung granulomas.