Search

Therapeutic storage of platelet concentrate is a challenging problem for Transfusion Medicine, so that many studies have been carried out with the aim of improving the duration of storage of platelet concentrates. Little attention, however, has been given to the most appropriate biochemical methods for evaluating the quality of the stored platelet concentrates.[corrected] Platelet concentrates (n=10) were saved under gentle stirring at 22 masculineC for a total period of 8 days. Glucose 0.5% (w/v) was added either at the beginning of storage (time 0) or on the fifth day of storage. One millilitre of each concentrate was withdrawn at time 0 and after 5, 6, 7 and 8 days of storage for microbiological culture, evaluation of pH, lactate dehydrogenase (LDH), mean platelet volume, platelet haematocrit and analysis of metabolites of energy pathways (high energy phosphate derivatives, nucleosides, oxypurines and antioxidants) by high performance liquid chromatography.The addition of glucose 0.5% on day 5 did not produce significant differences in metabolites of energy pathways with respect to control platelet concentrates, whereas when the glucose was added at the beginning of storage (time 0) there was a recovery of ATP, GTP and a decrease of energetic catabolism, demonstrating a beneficial effect on energy metabolism. The changes in LDH values did not parallel those of the metabolites: indeed, only on day 7 of storage did the platelet concentrates treated with glucose on day 5 have significantly lower levels of this enzyme than those found in the other concentrates. The improvements produced by addition of glucose at time 0 were confirmed by morphological analyses (mean platelet volume, platelet haematocrit), and the pH.The metabolic profile of glucose-enriched plasma concentrates on the fifth day of storage, and the different time course of increased LDH concentration, could represent valid parameters to interpret platelet vitality in the successive days of storage. These preliminary data also indicate that glucose might be a good additive for a new storage formulation.

Unmasking a recessive allele on one chromosome by a deletion on the other is a disease causing mechanism often invoked but rarely proven. We report on an Italian female patient with Canavan disease (OMIM# 271900) due to a missense mutation of the aspartoacylase (ASPA) gene and a 17p13.3 chromosomal microdeletion.