Aspergillus species identification in the clinical setting

Multiple recent studies have demonstrated the limited utility of morphological methods used singly for species identification of clinically relevant aspergilli. It is being increasingly recognised that comparative sequence based methods used in conjunction with traditional phenotype based methods can offer better resolution of species within this genus. Recognising the growing role of molecular methods in species recognition, the recently convened international working group meeting entitled “Aspergillus Systematics in the Genomic Era” has proposed several recommendations that will be useful in such endeavors. Specific recommendations of this working group include the use of the ITS regions for inter section level identification and the β-tubulin locus for identification of individual species within the various Aspergillus sections

Central venous catheter associated thrombosis of major veins: thrombolytic treatment with recombinant tissue plasminogen activator.

OBJECTIVE--Major thromboses can occur in the venous system in association with central venous catheters. This usually necessitates removal of the catheter. METHODS--The effectiveness of low dose recombinant tissue type plasminogen activator (rt-PA) in combination with heparin was assessed in patients with central venous catheter associated thrombosis. RESULTS--In five patients, all suffering from cancer, a 5-7 day continuous infusion resulted in complete lysis of the thrombus without complications in three. In the other two patients moderately severe haemorrhage was observed with only partial lysis, of the thrombus. CONCLUSIONS--The infusion of heparin and rt-PA is potentially effective in thrombosis related to use of central venous catheters, but the risk of haemorrhage is not inconsiderable

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5'-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parent