Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain.
View Article and Find Full Text PDFThe biological significance of donor-specific microchimerism (DSM) in solid organ transplantation is unresolved. It has been reported both as a favourable feature, which may facilitate induction and maintenance of tolerance, and as a sign of graft-vs-host disease. Here, we applied a quantitative real-time PCR assay (qRT-PCR) to a selected series of kidney transplant recipients to measure the level of microchimerism in relation to allograft function and survival.
View Article and Find Full Text PDFLiving donor kidney transplantation (LKD) has to be considered the best transplant choice for ESRD patients in terms of organ quality and survival. ABO incompatibility and positive cross-match frequently impede LKD. Recently, options based on stronger immunosuppression, apheresis techniques and Ig administration have been proposed to overcome the biological barriers.
View Article and Find Full Text PDFThe evaluation of potential living kidney donors requires an accurate study of renal function and morphology. The gold standard to assess renal function is the measurement of glomerular filtration rate (GFR). However, GFR is often estimated from serum creatinine (SCr), cystatin C (SCys), or creatinine clearance (CCr).
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
August 2008