Molecular genetic investigation of autosomal dominant hemifacial microsomia

The overall purpose of this project was to explore the underlying pathogenesis of Hemifacial microsomia (HFM), investigate treatment and management options identify likely candidate genes and screen candidate genes for mutation(s) causing the form of HFM segregating on chromosome 11 in a West Australian family. Hemifacial microsomia is a congenital malformation arising from the derivatives of the first and second branchial arches. It is both clinically and genetically heterogeneous and can occur sporadically or segregate within families in an autosomal fashion. HFM is characterised by significant undergrowth to one side of the face and is a common birth defect with an estimated incidence of 1 in 1,000 to 1 in 5.600 births. Most HFM cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. These families present the best opportunity for locating and identifying HFM mutations. Two autosomal dominant forms of this disease have been located, one to a 10.7 million DNA base region on chromosome 14 and the other to an 18.8 million base region on chromosome 11. The identification and cooperation of a large West Australian family with HFM has allowed the phenotypic and genotypic study of the disorder presented in this thesis. Candidate genes were identified from the Draft Human Genome through genome mining and bioinformatics tools. This essentially involved cross-tabulating the genes and predicting genes I the two known hemifacial microsomia candidate regions and by comparison of gene names, aliases, acronyms, functions, disease associations (particularly with axial asymmetry), timing of expression and trinucleotide repeat expansions (chromosome 11 hemifacial microsomia appears to show anticipation). The chromosome 11 linkage region was also investigated for homologies to the Completed Mouse Genome. This project has greatly contributed to the fundamental understanding of this disease and its phenotype and provides a basis for further studies aimed at better diagnosis, treatment and identification of causative genes and other factors

Supporting placement supervision in clinical exercise physiology

The continued engagement of the professional workforce as supervisors is critical for the sustainability and growth of work-integrated learning activities in university degrees. This study investigated factors that influence the willingness and ability of clinicians to continue to supervise clinical exercise physiology work-integrated learning opportunities and makes recommendations for future supervision engagement. Themes identified from a supervisor survey were: staffing and time availability; administrative processes and support; student quality, knowledge and attitudes; student learning experiences; supporting the profession; service benefit; clinical personal benefit; funding; workplace support; staff qualifications and experience; prior positive experiences; future recruitment; facilities and infrastructure; and supporting the university. The responses resulted in five key recommendations for future enhanced and sustainable placement supervision. These were: adoption of efficient supervision structures; development and use of a competency checklist; enhanced recognition of supervision; standardized placement paperwork and assessment tools; and broadening of placement scheduling

Stretched during COVID, Britain’s social infrastructure needs an urgent boost

Besides ‘the economy’ and ‘health’ lies a neglected area of human life during the pandemic: social infrastructures. These vital links, sustained by families and communities, now need to be a priority. The LSE COVID and Care Recovery Group call for both urgent and long term help for voluntary and community groups

Development of an evidence-based framework of factors contributing to patient safety incidents in hospital settings: a systematic review

Objective The aim of this systematic review was to develop a ‘contributory factors framework’ from a synthesis of empirical work which summarises factors contributing to patient safety incidents in hospital settings. Design A mixed-methods systematic review of the literature was conducted. Data sources Electronic databases (Medline, PsycInfo, ISI Web of knowledge, CINAHL and EMBASE), article reference lists, patient safety websites, registered study databases and author contacts. Eligibility criteria Studies were included that reported data from primary research in secondary care aiming to identify the contributory factors to error or threats to patient safety. Results 1502 potential articles were identified. 95 papers (representing 83 studies) which met the inclusion criteria were included, and 1676 contributory factors extracted. Initial coding of contributory factors by two independent reviewers resulted in 20 domains (eg, team factors, supervision and leadership). Each contributory factor was then coded by two reviewers to one of these 20 domains. The majority of studies identified active failures (errors and violations) as factors contributing to patient safety incidents. Individual factors, communication, and equipment and supplies were the other most frequently reported factors within the existing evidence base. Conclusions This review has culminated in an empirically based framework of the factors contributing to patient safety incidents. This framework has the potential to be applied across hospital settings to improve the identification and prevention of factors that cause harm to patients

Evaluating the PRASE patient safety intervention - a multi-centre, cluster trial with a qualitative process evaluation: study protocol for a randomised controlled trial

Background: Estimates show that as many as one in 10 patients are harmed while receiving hospital care. Previous strategies to improve safety have focused on developing incident reporting systems and changing systems of care and professional behaviour, with little involvement of patients. The need to engage with patients about the quality and safety of their care has never been more evident with recent high profile reviews of poor hospital care all emphasising the need to develop and support better systems for capturing and responding to the patient perspective on their care. Over the past 3 years, our research team have developed, tested and refined the PRASE (Patient Reporting and Action for a Safe Environment) intervention, which gains patient feedback about quality and safety on hospital wards. Methods/design: A multi-centre, cluster, wait list design, randomised controlled trial with an embedded qualitative process evaluation. The aim is to assess the efficacy of the PRASE intervention, in achieving patient safety improvements over a 12-month period. The trial will take place across 32 hospital wards in three NHS Hospital Trusts in the North of England. The PRASE intervention comprises two tools: (1) a 44-item questionnaire which asks patients about safety concerns and issues; and (2) a proforma for patients to report (a) any specific patient safety incidents they have been involved in or witnessed and (b) any positive experiences. These two tools then provide data which are fed back to wards in a structured feedback report. Using this report, ward staff are asked to hold action planning meetings (APMs) in order to action plan, then implement their plans in line with the issues raised by patients in order to improve patient safety and the patient experience. The trial will be subjected to a rigorous qualitative process evaluation which will enable interpretation of the trial results. Methods: fieldworker diaries, ethnographic observation of APMs, structured interviews with APM lead and collection of key data about intervention wards. Intervention fidelity will be assessed primarily by adherence to the intervention via scoring based on an adapted framework. Discussion: This study will be one of the largest patient safety trials ever conducted, involving 32 hospital wards. The results will further understanding about how patient feedback on the safety of care can be used to improve safety at a ward level. Incorporating the ‘patient voice’ is critical if patient feedback is to be situated as an integral part of patient safety improvements