Integrating perioperative information from divergent sources

The enormous diversity of physician practices, including specialists, and patient requirements and comorbidities make integration of appropriate perioperative information difficult. Lack of communicating computer systems adds to the difficulty of assembling data. Meta analysis and evidence-based studies indicate that far too many tests are performed perioperatively. Guidelines for appropriate perioperative management have been formulated by several specialties. Education as to current findings and requirements should be better communicated to surgeons, consultants, and patients to improve healthcare needs and at the same time decrease costs. Means to better communication by interpersonal collaboration are outlined.     

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder - Canadian American Research Consortium (ASD-CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Società Italiana per la Ricerca e la Formazione sull'Autismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 × 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 × 10(-9)). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (P(FDR)=2.63 × 10(-11)) was found for the rs2018650G-rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values <0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region.     

Interaction of the mucosal barrier with accessory immune cells during fungal infection

The mucosal epithelium is of central importance in host defence and immune surveillance, as it is the primary cell layer that initially encounters environmental microorganisms. Induction of antifungal innate immune responses depends on recognition of fungal components by host pattern recognition receptors. Members of the Toll-like receptor family have emerged as key sensors that recognize fungal pathogens and trigger defence responses. During oral infection with the fungal pathogen Candida albicans, a large number of cytokines is secreted by oral epithelial cells, which in turn activate myeloid cells in the submucosal layers to clear the invading pathogen. Recent data provide novel insights into the complex molecular mechanisms of innate immune responses initiated by cooperation between epithelial cells and neutrophils. In this review, we discuss the role of epithelial TLRs and how the immunological crosstalk between C. albicans-infected oral epithelium and neutrophils protects the mucosal surface from fungal invasion and cell injury.     

The perceptions of danish physiotherapists on the ethical issues related to the physiotherapist-patient relationship during the first session: a phenomenological approach

Background

Post-mortem needle biopsies have been used in resource-poor settings to determine cause of death and there is interest in using them in Bangladesh. However, we did not know how families and communities would perceive this procedure or how they would decide whether or not to consent to a post-mortem needle biopsy. The goal of this study was to better understand family and community concerns and decision-making about post-mortem needle biopsies in this low-income, predominantly Muslim country in order to design an informed consent process.

Methods

We conducted 16 group discussions with family members of persons who died during an outbreak of Nipah virus illness during 2004-2008 and 11 key informant interviews with their community and religious leaders. Qualitative researchers first described the post-mortem needle biopsy procedure and asked participants whether they would have agreed to this procedure during the outbreak. Researchers probed participants about the circumstances under which the procedure would be acceptable, if any, their concerns about the procedure, and how they would decide whether or not to consent to the procedure.

Results

Overall, most participants agreed that post-mortem needle biopsies would be acceptable in some situations, particularly if they benefitted society. This procedure was deemed more acceptable than full autopsy because it would not require major delays in burial or remove organs, and did not require cutting or stitching of the body. It could be performed before the ritual bathing of the body in either the community or hospital setting. However, before consent would be granted for such a procedure, the research team must gain the trust of the family and community which could be difficult. Although consent may only be provided by the guardians of the body, decisions about consent for the procedure would involve extended family and community and religious leaders.

Conclusions

The possible acceptability of this procedure during outbreaks represents an important opportunity to better characterize cause of death in Bangladesh which could lead to improved public health interventions to prevent these deaths. Obstacles for research teams will include engaging all major stakeholders in decision-making and quickly building a trusting relationship with the family and community, which will be difficult given the short window of time prior to the ritual bathing of the body.