Hemophilic Pseudotumor: An Important Differential Diagnosis of an Intracranial Mass.

Hemophilic pseudotumor is a rare complication of hemophilia. We present the case of a male toddler with moderate hemophilia A and cranial hemophilic pseudotumor managed with factor VIII infusions. We also provide a review of the literature. Recognition of this rare manifestation of this complication of hemophilia is important to provide correct treatment and avoid unnecessary investigations, particularly biopsy, which is contraindicated in this condition.

Isolation of genes controlling apoptosis through their effects on cell survival.

The identification of the most suitable molecular targets for gene and drug therapy is the crucial first step in the development of new disease treatments. The rational identification of such targets depends on a detailed understanding of the pathological changes occuring at the molecular level. We have applied forward genetics approaches to the identification of the critical genes involved in the control of apoptosis in mammalian cells, since defective control of apoptosis underlies many diseases, including cancer and neurodegenerative diseases. We have identified two groups of genes by their effects on cell survival using retroviral cDNA functional expression cloning and retroviral insertional mutagenesis. The identification of these novel genes opens up new areas for apoptosis research and subsequently for the development of new gene and drug therapies.

Apoptosis gene hunting using retroviral expression cloning: identification of vacuolar ATPase subunit E.

Over the past 10-15 years there has been an explosion of interest in apoptosis. The delayed realisation that cell death is an essential part of life for any multicellular organism has meant that, despite the recent and rapid developments of the last decade, the precise biochemical pathways involved in apoptosis remain incomplete and potentially novel genes may, as yet, remain undiscovered. The hunt is therefore on to bridge the remaining gaps in our knowledge. Our contribution to this research effort utilises a functional cloning approach to isolate important regulatory genes involved in apoptosis. This mini-review focuses on the use and advantages of a retroviral expression cloning strategy and describes the isolation and identification of one such potential apoptosis regulatory gene, namely that encoding vacuolar ATPase subunit E.