It's a trap: bone abnormalities and autoimmune disorders resulting from TRAP deficiency.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity Lausch et al. (2011) Nature Genetics 43(2):132-137.

Genome variation in Cryptococcus gattii, an emerging pathogen of immunocompetent hosts.

Cryptococcus gattii recently emerged as the causative agent of cryptococcosis in healthy individuals in western North America, despite previous characterization of the fungus as a pathogen in tropical or subtropical regions. As a foundation to study the genetics of virulence in this pathogen, we sequenced the genomes of a strain (WM276) representing the predominant global molecular type (VGI) and a clinical strain (R265) of the major genotype (VGIIa) causing disease in North America. We compared these C. gattii genomes with each other and with the genomes of representative strains of the two varieties of Cryptococcus neoformans that generally cause disease in immunocompromised people. Our comparisons included chromosome alignments, analysis of gene content and gene family evolution, and comparative genome hybridization (CGH). These studies revealed that the genomes of the two representative C. gattii strains (genotypes VGI and VGIIa) are colinear for the majority of chromosomes, with some minor rearrangements. However, multiortholog phylogenetic analysis and an evaluation of gene/sequence conservation support the existence of speciation within the C. gattii complex. More extensive chromosome rearrangements were observed upon comparison of the C. gattii and the C. neoformans genomes. Finally, CGH revealed considerable variation in clinical and environmental isolates as well as changes in chromosome copy numbers in C. gattii isolates displaying fluconazole heteroresistance.

A cost consequence study of the impact of a dermatology-trained practice nurse on the quality of life of primary care patients with eczema and psoriasis.

BACKGROUND: The practice nurse is central to the development of a primary care-led National Health Service. Skin diseases can have a major impact on patients' lives but general practitioners (GPs) lack many of the skills of practical dermatology care and support. AIM: To determine whether a primary care dermatology liaison nurse should be introduced by our health authority. We identified the resources consumed and the benefits that accrued from a practice nurse who had received training in practical dermatology care. METHOD: A cost consequence study in parallel with a randomised controlled trial was undertaken in a group of nine GPs and 109 patients between the ages of 18 and 65 years who had a diagnosis of psoriasis or eczema. RESULTS: Although there was a significant improvement in our primary outcome measure within group, when compared with the control group significance was not achieved. There was no significant change in the Euroqol measure but the clinical instrument showed a significant change when compared with control. On entry, our qualitative data identified three main themes--the embarrassment caused by these skin conditions, the wish for a cure rather than treatment, and concern over the long-term effects of steroids. On completion, 20% of patients expressed that they had received a positive benefit from the clinic. CONCLUSION: This study demonstrates the difficulties of obtaining relevant information to facilitate decisions on how resources should be allocated in primary care. Not all questions can be answered by large multi-centred trials and studies themselves have an opportunity cost consuming resources that could otherwise be spent on direct health care. Often, local resource decisions will be based on partial evidence-yielding solutions that are satisfactory rather than optimum but which are, nevertheless, better than decisions taken with no evidence at all.