Enhanced genome assembly and a new official gene set for Tribolium castaneum.

BACKGROUND: The red flour beetle Tribolium castaneum has emerged as an important model organism for the study of gene function in development and physiology, for ecological and evolutionary genomics, for pest control and a plethora of other topics. RNA interference (RNAi), transgenesis and genome editing are well established and the resources for genome-wide RNAi screening have become available in this model. All these techniques depend on a high quality genome assembly and precise gene models. However, the first version of the genome assembly was generated by Sanger sequencing, and with a small set of RNA sequence data limiting annotation quality. RESULTS: Here, we present an improved genome assembly (Tcas5.2) and an enhanced genome annotation resulting in a new official gene set (OGS3) for Tribolium castaneum, which significantly increase the quality of the genomic resources. By adding large-distance jumping library DNA sequencing to join scaffolds and fill small gaps, the gaps in the genome assembly were reduced and the N50 increased to 4753kbp. The precision of the gene models was enhanced by the use of a large body of RNA-Seq reads of different life history stages and tissue types, leading to the discovery of 1452 novel gene sequences. We also added new features such as alternative splicing, well defined UTRs and microRNA target predictions. For quality control, 399 gene models were evaluated by manual inspection. The current gene set was submitted to Genbank and accepted as a RefSeq genome by NCBI. CONCLUSIONS: The new genome assembly (Tcas5.2) and the official gene set (OGS3) provide enhanced genomic resources for genetic work in Tribolium castaneum. The much improved information on transcription start sites supports transgenic and gene editing approaches. Further, novel types of information such as splice variants and microRNA target genes open additional possibilities for analysis.

'To suddenly have a name for this thing was wonderful': the patient's experience of receiving a diagnosis of systemic lupus erythematosus.

OBJECTIVES: The aim of this study was to explore the patient's perception of receiving a diagnosis of systemic lupus erythematosus (lupus) and reports on their experience of the period between onset of symptoms and receiving a definitive diagnosis. METHODS: Focus groups were conducted in seven rheumatology centres. Forty-three participants were purposively selected and data were subjected to thematic deductive analysis. RESULTS: Focus group data generated three major themes. 'Diagnostic uncertainty and misdiagnosis' describes the frustration for many of experiencing years of often debilitating symptoms that have gone unacknowledged by health professionals and misunderstood by themselves. Some experienced the trauma of being misdiagnosed, which impacted on how they adjusted to their final diagnosis of lupus. 'Consequences of receiving a diagnosis' highlights the feelings of relief for participants at finally having a diagnosis, despite its implications. However, the manner in which this knowledge was delivered was often inappropriate and unsupported, affecting how they adjusted to future management of their condition. 'Impact on individuals' lives' explores how many felt empowered by finally receiving recognition for their symptoms, but the diagnosis of a relatively unknown condition with often invisible symptoms impacted on the response and support they received from those around them. CONCLUSION: It is essential health professionals have a greater understanding of the patient experience prior to receiving a diagnosis of lupus. The individual experience from symptom onset to diagnosis has a direct impact on the patient's subsequent acceptance of their diagnosis and response to management and therefore justifies the need for further research in this field.

Sustaining health promotion programs within sport and recreation organisations.

The involvement of the sport and recreation sector as a setting for health promotion is a new strategy implemented by health policy makers and strategic planners. Strategies to promote and sustain health promotion activities are important considering the risk that programs may cease after initial funding ends. This study explored the factors affecting the sustainability of a sport- and recreation-based health promotion program. A stratified sampling method was used to select four of the nine Regional Sports Assemblies (RSAs) that delivered a state-wide health promotion program funded by the Victorian Health Promotion Foundation in Australia. Data were collected from in-depth interviews with four Executive Officers (EOs) and focus group discussions with their Boards of Management. A sustainability checklist with pre-specified dimensions (e.g. organisational setting, broader community environment, and program design and implementation) guided data collection and analysis. The results showed that the organisational setting and the broader community environment supported program institutionalisation; whilst the design and implementation of the program worked against institutionalisation. The capacity of the organisations to generate new funds for the program was limited; the relationship between the central funding organisation and the Boards of Management was weak; and the program did not support the retention of staff. The engagement of sport and recreation organisations has potential to facilitate health promotion and public health. To enhance organisational capacity and achieve program sustainability, it is important that organisational processes, structures, and resources that support long-term health promotion practice are effectively and efficiently planned and managed.

Systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a complex multisystem autoimmune disease of unknown aetiology that is subject to period of exacerbation and remission. Treatments aimed at controlling disease activity remain primarily by immunosuppression, the prescribing of which is dependent on the development of any multisystem complications. With the establishment of dedicated lupus clinics using a multidisciplinary team approach, prognosis is better and treatment options continue to improve.