Evaluation of a commercially available rapid urinary porphobilinogen test

Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are available in rather few clinical laboratories. The aim of this study was to critically describe and to evaluate a semi-quantitative rapid test for urinary porphobilinogen determination which is commercially available and recommended by the American Porphyria Foundation. Methods: Urinary samples from patients with acute intermittent porphyria and control samples were analysed and the semi-quantitative results were compared with the results obtained by a manual quantitative spectrophotometric method. Results: In all 32 samples studied, acceptable agreement between the results of the rapid test and the quantitative test was observed. Handling of the test was found to be convenient. Conclusions: The assay was found to be reliable and has the potential to increase the availability of porphobilinogen testing in the field

Environmental chemical exposures and disturbances of heme synthesis.

Porphyrias are relatively uncommon inherited or acquired disorders in which clinical manifestations are attributable to a disturbance of heme synthesis (porphyrin metabolism), usually in association with endogenous or exogenous stressors. Porphyrias are characterized by elevations of heme precursors in blood, urine, and/or stool. A number of chemicals, particularly metals and halogenated hydrocarbons, induce disturbances of heme synthesis in experimental animals. Certain chemicals have also been linked to porphyria or porphyrinuria in humans, generally involving chronic industrial exposures or environmental exposures much higher than those usually encountered. A noteworthy example is the Turkish epidemic of porphyria cutanea tarda produced by accidental ingestion of wheat treated with the fungicide hexachlorobenzene. Measurements of excreted heme precursors have the potential to serve as biological markers for harmful but preclinical effects of certain chemical exposures; this potential warrants further research and applied field studies. It has been hypothesized that several otherwise unexplained chemical-associated illnesses, such as multiple chemical sensitivity syndrome, may represent mild chronic cases of porphyria or other acquired abnormalities in heme synthesis. This review concludes that, although it is reasonable to consider such hypotheses, there is currently no convincing evidence that these illnesses are mediated by a disturbance of heme synthesis; it is premature or unfounded to base clinical management on such explanations unless laboratory data are diagnostic for porphyria. This review discusses the limitations of laboratory measures of heme synthesis, and diagnostic guidelines are provided to assist in evaluating the symptomatic individual suspected of having a porphyria

Stolpersteine: Germans Remember Holocaust Victims

Full text PDFA German artist, Gunter Demnig, has since 1996 inserted more than 60,000 stolpersteine (tripping stones) on public pavements, squares and sidewalks, commemorating the location where persons had lived prior to their deportation to concentration camps, and thus, to their death. These stolpersteine are brass squares (10x10 cm), mounted flush on cobble stones and stating "Here lived", followed by the victim's name, year of birth, date of deportation, place and year of death. The deported were mostly Jews, but also Roma, Sintis, homosexuals, disabled, dissidents and other persecuted persons during the Nazi era (1933-1945). By now, stolpersteine have been placed in more than 1600 towns in twenty European countries. The expenses of $130 per stolperstein are borne by donations from family, friends and anonymous donors. This decentralized project is not without controversy and has not been permitted in a few cities, for example in Munich with the city's governing board arguing that it is inappropriate to walk across these plaques; possible political reasons are not transparent. Where forbidden, stolpersteine are occasionally placed on private grounds as close as possible to public sidewalks. While memorials to fallen soldiers and victims of persecution are often anonymous, stolpersteine give those who were murdered for political reasons a place to remember them, following a motto of this movement "The secret of remembrance is the proximity"