Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.

Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O(2) (-)). The most common form is caused by mutations in CYBB encoding gp91 phox, the heavy chain of flavocytochrome b(558) (XCGD). We investigated 11 male patients and their families suspected of suffering from X-linked CGD.

Urinary release of 72 and 92 kDa gelatinases, TIMPs, N-GAL and conventional prognostic factors in urothelial carcinomas.

Objectives: A urinary release of gelatinases A and B matrix metalloproteinases-2, -9 (MMP-2, -9), and tissue inhibitors (TIMP-1, -2) occurs during normal epithelial turnover. A proteinase increase, reduced inhibitors or both potentially account for cell mobility and bladder cancer progression. In order to define normal levels and thresholds for transitional cell carcinoma (TCC) patients, urinary gelatinases, tissue inhibitors and neutrophil-gelatinase-associated lipocalin (N-GAL) were investigated for end-point clinical status and compared with normal subjects during a 2-year follow-up prospective study.