Search

Hereditary factors account for a significant proportion of breast cancer risk. Approximately 20% of hereditary breast cancers are attributable to pathogenic variants in the highly penetrant BRCA1 and BRCA2 genes. A proportion of the genetic risk is also explained by pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, RAD51C, RAD51D and BARD1, as well as genes associated with breast cancer predisposition syndromes - TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (hereditary diffuse gastric cancer), STK11 (Peutz-Jeghers syndrome) and NF1 (neurofibromatosis type 1). Polygenic risk, the cumulative risk from carrying multiple low-penetrance breast cancer susceptibility alleles, is also a well-recognised contributor to risk. This review provides an overview of the established breast cancer susceptibility genes as well as breast cancer predisposition syndromes, highlights distinct genotype-phenotype correlations associated with germline mutation status and discusses molecular testing and therapeutic implications in the context of hereditary breast cancer.

Angiotensin II type 1 receptor antibody (AT1R Ab) is a non-Human Leucocyte Antigen (HLA) antibody that is maybe associated with early severe kidney transplant rejection and worse graft outcomes. This study aimed to assess the association between AT1R Ab and kidney transplant rejection and graft outcomes.We performed a retrospective analysis of all adult kidney transplant recipients in an Australian centre who had an AT1R Ab test between 1 January 2015 to 30 June 2020. AT1R Ab positive patients were compared to AT1R Ab negative patients. Primary outcomes were rejection risk, type and histopathological severity scores. Secondary outcomes were 8-week graft function and graft loss.Of 965 kidney transplants that were performed during the study period, 73 patients had AT1R Ab tested; 16 (22%) were positive and 57(78%) were negative. Positive patients were on average younger and had higher level of donor-specific HLA antibodies. Rejection occurred in 13 (81%) positive patients and 41 (72%) negative patients (P = 0.45). No significant differences in rejection type or severity were found. HLA mismatch and peak panel reactive antibody ≥80%, but not AT1R Ab, independently predicted rejection. Average (132 vs. 177 mmol/L, P = 0.302) and graft loss were not significantly different between groups.The study found no evidence that AT1R Ab is associated with rejection type, severity or worse graft function. Future studies should assess its relationship with graft outcomes to help complement immunological risk assessment and potentially provide therapeutic options to alter outcomes.

Background: Clinical guidelines recommend that patients using inhaled corticosteroids should rinse their mouth following inhalation. There is however, a paucity of research regarding patient implementation of this recommendation and the impact it has on the occurrence of adverse effects. Objective: The aim of this study was to determine how well patients implement mouth rinsing after using inhaled corticosteroids in practice and their understanding of the rationale, information sources and the impact of mouth rinsing on adverse effects. Setting: Australians aged 18 years and over with a diagnosis of asthma and/or chronic obstructive pulmonary disease who were currently using an inhaled corticosteroid. Method: Participants were recruited via Facebook to complete an online survey. Main outcome measure: Implementation of a mouth rinse which aligned to current guideline recommendations. Results: Of 380 eligible responses, 30.5% of patients reported suboptimal mouth rinsing after using inhaled corticosteroids. Receiving advice on mouth rinsing from a healthcare professional increased the likelihood of correct implementation (P

Clinical guidelines recommend that patients using inhaled corticosteroids should rinse their mouth following inhalation. There is however, a paucity of research regarding patient implementation of this recommendation and the impact it has on the occurrence of adverse effects.The aim of this study was to determine how well patients implement mouth rinsing after using inhaled corticosteroids in practice and their understanding of the rationale, information sources and the impact of mouth rinsing on adverse effects.Australians aged 18 years and over with a diagnosis of asthma and/or chronic obstructive pulmonary disease who were currently using an inhaled corticosteroid.Participants were recruited via Facebook to complete an online survey.Implementation of a mouth rinse which aligned to current guideline recommendations.Of 380 eligible responses, 30.5% of patients reported suboptimal mouth rinsing after using inhaled corticosteroids. Receiving advice on mouth rinsing from a healthcare professional increased the likelihood of correct implementation (P 0.001) and improved patient understanding of the rationale (P = 0.01). Whilst most (90.0%) patients were aware rinsing may reduce oropharyngeal adverse effects, few (5.5%) were aware of its potential to reduce systemic adverse effects. Patients were more likely to report their rinsing procedure had a positive impact if they had experienced oral candidiasis (P 0.001) or sore mouth/throat (P = 0.01), compared to cough or hoarse voice.Almost one-third of patients reported a suboptimal mouth rinsing procedure after using an inhaled corticosteroid. Interventions are required to improve awareness and correct implementation of mouth rinsing.

Metaplastic breast carcinoma (MBC) is relatively rare but accounts for a significant proportion of global breast cancer mortality. This group is extremely heterogeneous and by definition exhibits metaplastic change to squamous and/or mesenchymal elements, including spindle, squamous, chondroid, osseous, and rhabdomyoid features. Clinically, patients are more likely to present with large primary tumours (higher stage), distant metastases, and overall, have shorter 5-year survival compared to invasive carcinomas of no special type. The current World Health Organisation (WHO) diagnostic classification for this cancer type is based purely on morphology - the biological basis and clinical relevance of its seven sub-categories are currently unclear. By establishing the Asia-Pacific MBC (AP-MBC) Consortium, we amassed a large series of MBCs (n = 347) and analysed the mutation profile of a subset, expression of 14 breast cancer biomarkers, and clinicopathological correlates, contextualising our findings within the WHO guidelines. The most significant indicators of poor prognosis were large tumour size (T3; p = 0.004), loss of cytokeratin expression (lack of staining with pan-cytokeratin AE1/3 antibody; p = 0.007), EGFR overexpression (p = 0.01), and for 'mixed' MBC, the presence of more than three distinct morphological entities (p = 0.007). Conversely, fewer morphological components and EGFR negativity were favourable indicators. Exome sequencing of 30 cases confirmed enrichment of TP53 and PTEN mutations, and intriguingly, concurrent mutations of TP53, PTEN, and PIK3CA. Mutations in neurofibromatosis-1 (NF1) were also overrepresented [16.7% MBCs compared to ∼5% of breast cancers overall; enrichment p = 0.028; mutation significance p = 0.006 (OncodriveFM)], consistent with published case reports implicating germline NF1 mutations in MBC risk. Taken together, we propose a practically minor but clinically significant modification to the guidelines: all WHO_1 mixed-type tumours should have the number of morphologies present recorded, as a mechanism for refining prognosis, and that EGFR and pan-cytokeratin expression are important prognostic markers. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John WileySons, Ltd.

This study provides an examination of women’s perceptions of care provided by student doulas undertaking a formal qualification in doula support services. Feedback forms completed by women attended by student doulas undertaking a formal qualification in doula support services were analyzed. The women (N = 160) consistently rated the student doulas’ contribution to their experience of birth favorably. Qualitative analysis revealed that women value the presence of their student doulas highly with reference to the student doulas’ demeanor, support provided to family, interface with other health professionals, and learned skills. Within the Australian context, this study suggests that the support provided by student doulas that have completed a formal training course is held in positive regard by the women receiving their care.

Objectives Despite high community use of complementary and alternative medicine (CAM) poor collaboration between conventional and CAM practitioners have been identified in many health sectors including maternity care. This is in part associated with a deficit in the formal training of CAM practitioners which overlooks collaborative practice skills and guidelines. This study evaluates the outcomes of an interprofessional education workshop which endeavours to improve the collaborative practice of CAM practitioners providing care to pregnant women. Methods A pre-workshop and post-workshop questionnaire which evaluated the participants’ perception of self-proficiency and their interprofessional practice behaviours when providing maternity care. Descriptive and inferential statistical analysis of the data was undertaken. Results CAM practitioners ( n = 30) providing care to pregnant women participated in the project. Prior to taking part in the workshop a low level of confidence in pregnancy-specific physiology and psychology knowledge more broadly but also poor confidence in engaging with conventional maternity care providers and understanding conventional models of maternity care was identified amongst participants. Participants who felt more positive about their knowledge of pregnancy and birth physiology were more likely to enquire about women's conventional care and discuss safety issues with women in their care. Following workshop involvement the participant's awareness of the models of maternity care available to Australian women improved alongside participants’ knowledge of the scope and role of obstetricians and midwives. There was a reduced need by participants to have their role acknowledged by conventional care providers as important to enable effective collaboration after workshop completion. Conclusions Interprofessional education is argued to be a valuable tool to promote interprofessional collaboration and communication. It may be employed as a useful tool to encourage stronger links and improved integration between CAM and conventional health professionals.

In light of recent disasters and terrorist attacks, private and public organisations alike are becoming increasingly concerned with their ability to continue operating in spite of unforeseen events. This paper describes a project conducted at the Royal Victorian Eye and Ear Hospital to develop a Business Continuity Management (BCM) Framework, and outlines the learning experience. It provides a Framework and describes the key issues to be considered when initiating BCM in a health organisation, concluding that a project management approach can be used to establish a framework for BCM.