Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.

Aims: Acute intermittent porphyria (AIP) is a disorder of the haem biosynthetic pathway caused by mutations in the hydroxymethylbilane synthase () gene. Knowledge of the spectrum of mutations present in South Africa is limited. This study presents the molecular profile of 20 South African patients with AIP, and the kinetic analysis of one novel expressed mutated HMBS enzyme and a previously identified mutation at the same position.

Cardiac troponin T quantitative assay failure as a result of antibody interference.

Background: Immunoassays are prone to interference by various substances which may cause inaccurate results. This type of interference is difficult to detect analytically.

Objective: A case of CARDIAC Troponin T Quantitative reader (Roche Diagnostics) assay failure was detected and investigated in order to ascertain the likely cause.

Pseudohyponatremia revisited: a modern-day pitfall.

Factitiously low sodium estimations are a hazard in most modern clinical laboratories. Most modern high-throughput analyzers use indirect ion-selective electrodes to estimate electrolyte concentrations in serum samples. This analysis is preceded by a dilution step of the sample.

Cathepsin B and D are Localized at the Surface of Human Breast Cancer Cells.

Alterations in trafficking of cathepsins B and D have been reported in human and animal tumors. In MCF10 human breast epithelial cells, altered trafficking of cathepsin B occurs during their progression from a preneoplastic to neoplastic state. We now show that this is also the case for altered trafficking of cathepsin D.