Scientists and mathematicians in the workforce – building our future

Universities have two obligations to their students. The first is to provide them with a deep knowledge of their discipline; and the second is to prepare them for work. While Science faculties have had a strong focus on the former, employers have consistently reported that students are underprepared for the workplace. Students who have undertaken work integrated learning (WIL) have been shown to achieve better employment outcomes than those who have not. WIL also builds bridges between business and universities. Results will be reported from Office of the Chief Scientist commissioned research on the role and extent of WIL from the perspectives of both universities and industry. The results show that the participation of science students in WIL is very low. The incentives and barriers to WIL in both universities and industry are also identified, and a national approach explored to address these. The Office of the Chief Scientist is now taking this research to the next stage. We are working with the Australian Council of Deans of Science to develop an approach and strategies to WIL in Science faculties. A roadmap will be developed to scale up WIL in science faculties across Australia WIL is an important means of preparing students for work. We also need to encourage a culture of entrepreneurship in our science students in order to generate new innovative businesses and industries. Preliminary findings from our research on STEM entrepreneurship and training in Australian universities will be reported

The impact of technology in higher education

We need to encourage education providers to design programs that enable science and maths graduates to work easily and willingly in many different sectors of the economy. The destinations and roles of science and maths qualified people in the workforce has been identified as a major gap in in our understanding. I will discuss the results of two major projects, which we have commissioned to better understand the place of science, technology, engineering and maths (STEM) qualified people in the workforce: 1. A study by the ABS of STEM graduates in the workforce - how many there are; their occupations; and employment growth. 2. A survey of employers to understand their demand for STEM graduates and the skills that they are seeking These results will assist in defining the programs of education in science faculties that will assist graduates to obtain skills required by a range of workplaces. I will also discuss the activities of our Industry Working Group, which provides advice to Australia’s Chief Scientist about mechanisms to improve the quantity and preparedness of graduates to meet Australia’s future work force needs. The Industry Working Group has membership from the Business Council of Australia, the Australian Industry Group, the Australian Chamber of Commerce and Industry, Universities Australia, the Australian Technology Network of Universities, the Australian Collaborative Network on Education and the Office of the Chief Scientist

The genetics of Cholesteatoma

Introduction A cholesteatoma is a mass of keratinizing epithelium in the middle ear. It is a rare disorder, associated with significant morbidity, especially deafness. There is little evidence for Mendelian inheritance, but an original observation by the author of affected families in Norfolk, including individuals with bilateral disease, suggests a genetic component for its aetiology. Methods A systematic literature review to identify studies about the genetics of cholesteatoma has been performed and a biobank for subsequent whole exome sequencing studies of familial disease has been established. A pilot sequencing study to identify candidate variants that segregate with the disease phenotype, using NimbleGen library construction and exome capture and the Illumina HiSeq4000 platform, has been completed. Results The literature review identified several case-series with multiply-affected families and associations with congenital malformation syndromes. DNA and clinical data has been collected from 66 participants from 13 multiply affected Norfolk families. The pilot whole exome sequencing [WES] study of 16 participants from four families identified 95,437 variants. In one family all five recruited individuals have been sequenced. Variant filtering, using pedigree analysis, has identified several mutations of potential significance. Conclusion A systematic review has been completed and a unique biobank to explore the genetics of cholesteatoma is established A WES strategy and bioinformatics pipeline have been developed in the pilot study and preliminary filtering has identified candidate variants that could have an impact on relevant biological pathways. There are no other published descriptions of a WES strategy to investigate the genetics of familial cholesteatoma. The potential impact of an understanding of the genetic basis of cholesteatoma is discussed

Cholesteatoma and family history: An international survey

Objective To explore the relative frequency of a family history of cholesteatoma in patients with known cholesteatoma, and whether bilateral disease or earlier diagnosis is more likely in those with a family history. Associations between cleft lip or palate and bilateral disease and age of diagnosis were also explored. Design An online survey of patients with diagnosed cholesteatoma was conducted between October 2017 and April 2019. Participants The sample consisted of patients recruited from two UK clinics and self‐selected respondents recruited internationally via social media. Main outcome measures Side of cholesteatoma, whether respondents had any family history of cholesteatoma, age of diagnosis and personal or family history of cleft lip or palate were recorded. Results Of 857 respondents, 89 (10.4%) reported a positive family history of cholesteatoma. Respondents with a family history of cholesteatoma were more likely to have bilateral cholesteatoma (P = .001, odds ratio (OR) 2.15, 95% confidence interval (CI) 1.35‐3.43), but there was no difference in the age of diagnosis (P = .23). Those with a history of cleft lip or palate were not more likely to have bilateral disease (P = .051, OR 2.71, CI 1.00‐7.38), and there was no difference in age of diagnosis (P = .11). Conclusion The relatively high proportion of respondents that reported a family history of cholesteatoma offers supporting evidence of heritability in cholesteatoma. The use of social media to recruit respondents to this survey means that the results cannot be generalised to other populations with cholesteatoma. Further population‐based research is suggested to determine the heritability of cholesteatoma

The genetics of cholesteatoma study. Loss‐of‐function variants in an affected family

The aetiology of cholesteatoma remains elusive. In a recent systematic review, we discussed reports of multiple cases of cholesteatoma within families, which suggests a genetic predisposition in some cases (1). We have established a U.K. database and DNA sample bank that can be used to identify genetic variants that co‐segregate with cholesteatoma in multiply‐affected families. Recruitment to this Genetics of Cholesteatoma (GOC) Study is via the U.K. National Institute of Health Research Clinical Research Network. This preliminary communication describes the results of whole exome sequencing (WES) of DNA extracted from participants in the first fully sequenced family recruited to the study. Rare variants were filtered for co‐segregation with the cholesteatoma phenotype, and for their putative functional impact. We have identified loss of function variants in the genes EGFL8 and BTNL9 as candidate variants of interest. These are preliminary observations and the variants are of unknown significance to the disease pathology without replication or further investigation

The Burden of Revision Sinonasal Surgery in the UK – Data from the Chronic Rhinosinusitis Epidemiology Study (CRES); a cross sectional study

Objectives/Hypothesis The aim of this study was to investigate the surgical revision rate in patients with Chronic Rhinosinusitis (CRS) in the UK CRS Epidemiology Study (CRES). Previous evidence from national Sinonasal Audit showed that 1459 CRS patients demonstrated a surgical revision rate 19.1% at 5 years, with highest rates seen in those with polyps (20.6%). Setting Thirty secondary care centres around the UK. Participants A total of 221 controls and 1249 patients with CRS were recruited to the study including those with polyps (CRSwNPs), without polyps (CRSsNPs) and with allergic fungal rhinosinusitis (AFRS). Interventions Self-administered questionnaire. Primary outcome measure The need for previous sinonasal surgery. Results A total of 651 patients with CRSwNPs, 553 with CRSsNPs and 45 with AFRS were included. A total of 396 (57%) of patients with CRSwNPs/AFRS reported having undergone previous endoscopic nasal polypectomy (ENP), of which 182 of the 396 (46%) reported having received more than one operation. The mean number of previous surgeries per patient in the revision group was 3.3 (range 2 to 30) and a mean duration of time of 10 years since the last procedure. The average length of time since their first operation up to inclusion in the study was 15.5 years (range 0-74). Only 27.9% of all patients reporting a prior ENP had received concurrent endoscopic sinus surgery (ESS) (n=102). For comparison, surgical rates in patients with CRSsNPs were significantly lower; 13% of cases specifically reported ESS and of those only 30% reported multiple procedures (chi-squared p < 0.001). Conclusions This study demonstrated there is a high burden of both primary and revision surgery in patients with CRS, worst in those with AFRS and least in those with CRSsNPs. The burden of revision surgery appears unchanged in the decade since the Sinonasal Audit

Combined external and endonasal approach to fronto-ethmoidal mucocele involving the orbit

Purpose: To present a technique to improve the surgical treatment of frontal sinus mucocele and its recurrence. Methods: Nine procedures performed on eight patients by a team of ENT and Ophthalmic orbital surgeons. Data collected included patient demographics, surgical details, pathological findings and complications. The surgical technique involved an external approach via the upper eyelid skin crease combined with an internal approach with a rigid 4 mm endoscope described below. Following evacuation of the mucocele the sinus was anastomosed to nasal cavity with insertion of silicon stent. All patients had preoperative and postoperative CT scans of the orbit and paranasal sinuses. Result: There were nine operations on eight patients (six males, two female patients, mean age of 57.25: range, 15-71). Two patients had inverted papillomas. All patients presented with non-axial proptosis and diplopia. The mean follow up period was 38.7 months (range 11-99). The only intraoperative complication noted was a cerebrospinal fluid (CSF) leak in a patient with a post traumatic mucocele. Post-operative complications included lid scarring in 2 patients. One of the patients had a fistula overlying the affected sinus at presentation. Both patients underwent dermis fat grafting as a second stage procedure and responded well. One patient presented with asymptomatic superior oblique weakness that could be attributed to trauma to the superior oblique intra operatively. There was no case of recurrence of mucocele in our series. One of the inverted papillomas had an early recurrence (within 6 months) that required repeat surgery. Conclusion: Fronto nasal anastomosis restores the anatomy and reduces the chance of recurrence in our experience. The final cosmetic result is excellent and the patient's satisfaction is high. © 2016 Iranian Society of Ophthalmology

The genetics of cholesteatoma. A systematic review using narrative synthesis

Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale up to a million people are affected by this each year. We have conducted a systematic literature review to identify reports about the heritability of cholesteatoma or any constitutional genetic factors that may be associated with its aetiology. Data Sources: A systematic search of MEDLINE (EBSCO) and 2 databases of curated genetic research (OMIM and Phenopedia) was conducted. Study Selection: The participants and populations of interest for this review were people treated for cholesteatoma and their family members. The studies of interest reported evidence of heritability for the trait, or any association with congenital syndromes and particular genetic variants. Data Extraction: The searches identified 449 unique studies, of which 35 were included in the final narrative synthesis. Data Synthesis: A narrative synthesis was conducted and data were tabulated to record characteristics, including study design; genetic data; and author conclusions. Most of the studies identified in the literature search, and described here, are case reports and so represent the lowest level of evidence. In a few case-reports, congenital and acquired cholesteatoma have been shown to segregate within families in the pattern typical of a monogenic or oligogenic disorder with incomplete penetrance. Evidence from syndromic cases could suggest that genes controlling ear morphology may be risk factors for cholesteatoma formation. Conclusions: This is the first systematic review about the genetics of cholesteatoma; and we have identified a small body of relevant literature that provides evidence of a heritable component for its aetiology. Cholesteatoma is a complex and heterogeneous clinical phenotype, it is often associated with chronic otitis media and with some rare congenital syndromes known to affect ear morphology and related pathologies