Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function.

Mutations in genes that encode centrosomal/ciliary proteins cause severe cognitive deficits, while common single-nucleotide polymorphisms in these genes are associated with schizophrenia (SZ) and cognition in genome-wide association studies. The role of these genes in neuropsychiatric disorders is unknown. The ciliopathy gene SDCCAG8 is associated with SZ and educational attainment (EA). Genome editing of SDCCAG8 caused defects in primary ciliogenesis and cilium-dependent cell signalling. Transcriptomic analysis of SDCCAG8-deficient cells identified differentially expressed genes that are enriched in neurodevelopmental processes such as generation of neurons and synapse organization. These processes are enriched for genes associated with SZ, human intelligence (IQ) and EA. Phenotypic analysis of SDCCAG8-deficent neuronal cells revealed impaired migration and neuronal differentiation. These data implicate ciliary signalling in the aetiology of SZ and cognitive dysfunction. We found that centrosomal/ciliary genes are enriched for association with IQ, suggesting altered gene regulation as a general model for neurodevelopmental impacts of centrosomal/ciliary genes.

Management of occupational blood exposures: looking at progress.

Occupational blood exposure (OBE) is a well-recognised hazard in the healthcare setting. A 4-year review of OBE in a large Irish teaching hospital over 2008-2011 found encouraging results, but identified deficits in documentation, communication and follow-up. The process was repeated 1 year later to determine if improvements were achieved and recommendations implemented. In 2012, 110 OBEs were reported, of which 81% were reported within 72 hours of the injury. The administration of first aid was adequately documented in 85% of cases and confirmation of the provision of appropriate information and/or counselling in 72% of the cases. Attendance for follow-up was broadly in line with the previous review. The findings and recommendations contributed to improvements in practice. However, to ensure these are ongoing, the reinforcement of an educational strategy in a systematic way is fundamental.

Management of occupational blood exposures: a 4-year review.

In the healthcare setting, occupational blood exposure (OBE) is a well recognised hazard. Following exposure, prompt and correct management is required to prevent infection and minimise adverse psychological impact. The aim of the study was to ascertain whether or not documentation of the management and follow up of OBEs was appropriate and in line with best practice. Of the 134 cases reviewed, 65% of staff who reported an OBE attended for management on the day of the injury. The instrument type was documented in 95% of cases, and degree of injury in 91%. However, the provision of first aid was adequately documented for only 36% of exposure cases and the provision of adequate information and advice was documented for just 33%. Only approximately half of 23% of healthcare workers requiring follow up completed this within the recommended time frame. This study identified deficits in documentation, communication and follow up. However, this will likely improve with the recommendations outlined in this article.