OBJECTIVE To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. DESIGN Cross-sectional study. SETTING Clinical Center, National Institutes of Health. PATIENTS Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal d...

Nephropathic subjects show an increased tendency to develop cardiovascular diseases, mainly as the consequence of several risk factors including increased oxidative stress, inflammation, physical inactivity, anemia, vascular calcification, and endothelial dysfunction. The alterations in lipid metabolism represent a relatively lesser important cause of genesis and progression of atherosclerosis....

Diabetes is a common endocrine disorder characterized by hyperglycemia leading to nonenzymatic glycation of proteins, responsible for chronic complications. The development of mass spectrometric techniques able to give highly specific and reliable results in proteome field is of wide interest for physicians, giving them new tools to monitor the disease progression and the possible complications...

Photic induced sneeze is a reflex that occurs in certain individuals after exposure to bright light. Cystinosis is an autosomal recessive inborn error of metabolism in which nonprotein cystine accumulates within lysosomes. The pathognomonic ocular manifestation of cystinosis is corneal crystal deposition. We observed photic induced sneezes during ophthalmoscopic examination in five of 19 patien...