62 research outputs found

    Neurofibromatosis Type 1 (NF1): Family Experiences and Healthcare Management of a Genetic Syndrome Characterised by a Highly Uncertain Phenotype

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    Neurofibromatosis Type 1 (NF1) is a dominantly inherited disorder (births incidence: 1/3000) with a high spontaneous mutation rate. NF1 has been described as a condition without parameters; physical features, cognitive symptomatology, and complications such as malignancy, are highly variable, both within and between families, and over the lifetime of affected individuals. This thesis explores the significance of the recent classifications of NF1 as a ‘genetic syndrome’, in terms of the subjecthood of affected individuals, their family experiences and the way it is managed within the healthcare system. The research is based on qualitative semi-structured interviews of NF1 individuals, their families (n=30) and healthcare professionals who work with NF1 (n=11) and employs Grounded Theory and Narrative Analysis inspired methods of analysis. As such, it provides an empirical investigation of many of the sociological theories which have been developed in response to genetic disease, particularly genetic responsibility, biocitizenship and the medicalization of the family. NF1 was still experienced by patients and treated by the healthcare system, as a condition without parameters i.e., as a disparate set of symptoms with uncertain meaning, rather than as a ‘whole’. The majority of the respondents - regardless of the severity of NF1 - rejected NF1 genetic identities, employing diverse downplaying strategies to normalise it. NF1 was salient at certain critical junctures in individuals’ lifecourses, especially in relation to reproductive choices, disclosure and management of pressing symptoms. Family experiences with genetic conditions, the relations of family or kinship, health behaviours, familial surveillance and disclosure did not necessarily follow the lines of biomedical knowledge and genetic inheritance. The analysis also revealed a degree of mirroring between the structure of the healthcare provision for NF1 and patients’ constructions of the condition, for example the lack of illness identity. The example of NF1 shows that the identification of the genetic basis of a condition does not necessarily provide patients and healthcare professionals with more parameters to manage it

    Interventions to minimise doctors’ mental ill-health and its impacts on the workforce and patient care: the Care Under Pressure realist review

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    BackgroundThe growing incidence of mental ill-health in health professionals, including doctors, is a global concern. Although a large body of literature exists on interventions that offer support, advice and/or treatment to sick doctors, it has not yet been synthesised in a way that takes account of the complexity and heterogeneity of the interventions, and the many dimensions (e.g. individual, organisational, sociocultural) of the problem.ObjectivesOur aim was to improve understanding of how, why and in what contexts mental health services and support interventions can be designed to minimise the incidence of doctors’ mental ill-health. The objectives were to review interventions to tackle doctors’ mental ill-health and its impact on the clinical workforce and patient care, drawing on diverse literature sources and engaging iteratively with diverse stakeholder perspectives to produce actionable theory; and recommendations that support the tailoring, implementation, monitoring and evaluation of contextually sensitive strategies to tackle mental ill-health and its impacts.DesignRealist literature review consistent with the Realist And Meta-narrative Evidence Syntheses: Evolving Standards quality and reporting standards.Data sourcesBibliographic database searches were developed and conducted using MEDLINE (1946 to November week 4 2017), MEDLINE In-Process and Other Non-indexed Citations (1946 to 6 December 2017) and PsycINFO (1806 to November week 2 2017) (all via Ovid) and Applied Social Sciences Index and Abstracts (1987 to 6 December 2017) (via ProQuest) on 6 December 2017. Further UK-based studies were identified by forwards and author citation searches, manual backwards citation searching and hand-searching relevant journal websites.Review methodsWe included all studies that focused on mental ill-health; all study designs; all health-care settings; all studies that included medical doctors/medical students; descriptions of interventions or resources that focus on improving mental ill-health and minimising its impacts; all mental health outcome measures, including absenteeism (doctors taking short-/long-term sick leave); presenteeism (doctors working despite being unwell); and workforce retention (doctors leaving the profession temporarily/permanently). Data were extracted from included articles and the data set was subjected to realist analysis to identify context–mechanism–outcome configurations.ResultsA total of 179 out of 3069 records were included. Most were from the USA (45%) and had been published since 2009 (74%). More included articles focused on structural-level interventions (33%) than individual-level interventions (21%), but most articles (46%) considered both levels. Most interventions focused on prevention, rather than treatment/screening, and most studies referred to doctors/physicians in general, rather than to specific specialties or career stages. Nineteen per cent of the included sources provided cost information and none reported a health economic analysis. The 19 context–mechanism–outcome configurations demonstrated that doctors were more likely to experience mental ill-health when they felt isolated or unable to do their job, and when they feared repercussions of help-seeking. Healthy staff were necessary for excellent patient care. Interventions emphasising relationships and belonging were more likely to promote well-being. Interventions creating a people-focused working culture, balancing positive/negative performance and acknowledging positive/negative aspects of a medical career helped doctors to thrive. The way that interventions were implemented seemed critically important. Doctors needed to have confidence in an intervention for the intervention to be effective.LimitationsVariable quality of included literature; limited UK-based studies.Future workUse this evidence synthesis to refine, implement and evaluate interventions

    ‘Care Under Pressure’: a realist review of interventions to tackle doctors’ mental ill-health and its impacts on the clinical workforce and patient care

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    Introduction Mental ill-health is prevalent across all groups of health professionals and this is of great concern in many countries. In the UK, the mental health of the National Health Service (NHS) workforce is a major healthcare issue, leading to presenteeism, absenteeism and loss of staff from the workforce. Most interventions targeting doctors aim to increase their 'productivity' and 'resilience', placing responsibility for good mental health with doctors themselves and neglecting the organisational and structural contexts that may have a detrimental effect on doctors' well-being. There is a need for approaches that are sensitive to the contextual complexities of mental ill-health in doctors, and that do not treat doctors as a uniform body, but allow distinctions to account for particular characteristics, such as specialty, career stage and different working environments. Methods and analysis Our project aims to understand how, why and in what contexts support interventions can be designed to minimise the incidence of doctors' mental ill-health. We will conduct a realist review-A form of theory-driven interpretative systematic review-of interventions, drawing on diverse literature sources. The review will iteratively progress through five steps: (1) locate existing theories; (2) search for evidence; (3) select articles; (4) extract and organise data and (5) synthesise evidence and draw conclusions. The analysis will summarise how, why and in what circumstances doctors' mental ill-health is likely to develop and what can remediate the situation. Throughout the project, we will also engage iteratively with diverse stakeholders in order to produce actionable theory. Ethics and dissemination Ethical approval is not required for our review. Our dissemination strategy will be participatory. Tailored outputs will be targeted to: policy makers; NHS employers and healthcare leaders; team leaders; support organisations; doctors experiencing mental ill-health, their families and colleagues

    Optimising strategies to address mental ill-health in doctors and medical students: 'Care under Pressure' realist review and implementation guidance

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    © 2020 The Author(s). Background: Mental ill-health in health professionals, including doctors, is a global and growing concern. The existing literature on interventions that offer support, advice and/or treatment to sick doctors has not yet been synthesised in a way that considers the complexity and heterogeneity of the interventions, and the many dimensions of the problem. We (1) reviewed interventions to tackle doctors' and medical students' mental ill-health and its impacts on the clinical workforce and patient care - drawing on diverse literature sources and engaging iteratively with diverse stakeholder perspectives - and (2) produced recommendations that support the tailoring, implementation, monitoring and evaluation of contextually sensitive strategies to tackle mental ill-health and its impacts. Methods: Realist literature review consistent with the RAMESES quality and reporting standards. Sources for inclusion were identified through bibliographic database searches supplemented by purposive searches - resulting also from engagement with stakeholders. Data were extracted from included articles and subjected to realist analysis to identify (i) mechanisms causing mental ill-health in doctors and medical students and relevant contexts or circumstances when these mechanisms were likely to be 'triggered' and (ii) 'guiding principles' and features underpinning the interventions and recommendations discussed mostly in policy document, reviews and commentaries. Results: One hundred seventy-nine records were included. Most were from the USA (45%) and were published since 2009 (74%). The analysis showed that doctors were more likely to experience mental ill-health when they felt isolated or unable to do their job and when they feared repercussions of help-seeking. Healthy staff were necessary for excellent patient care. Interventions emphasising relationships and belonging were more likely to promote wellbeing. Interventions creating a people-focussed working culture, balancing positive/negative performance and acknowledging positive/negative aspects of a medical career helped doctors to thrive. The way that interventions were implemented seemed critically important. Doctors and medical students needed to have confidence in an intervention for the intervention to be effective. Conclusions: Successful interventions to tackle doctors' and students' mental ill-health are likely to be multidimensional and multilevel and involve multiple stakeholders. Evaluating and improving existing interventions is likely to be more effective than developing new ones. Our evidence synthesis provides a basis on which to do this. Study registration: PROSPERO CRD42017069870. Research project webpage http://sites.exeter.ac.uk/cup

    Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

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    This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other ‘mainstream’ specialties now offering genetic testing), and scientists from regional genetics laboratories. While viewing recontacting as desirable under certain circumstances, most respondents expressed concerns about its feasibility within the current constraints of the National Health Service (NHS). The main barriers identified were insufficient resources (time, staff, and suitable IT infrastructures) and lack of clarity about role boundaries and responsibilities. All of these are further complicated by genetic testing being increasingly offered by mainstream specialties. Reaching a consensus about roles and responsibilities of clinical specialties with regard to recontacting former patients in the light of evolving genetic information, and about what resources and infrastructures would be needed, was generally seen as a pre-requisite to developing guidelines about recontact

    Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”

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    Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations

    SINEUPs are modular antisense long non-coding RNAs that increase synthesis of target proteins in cells

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    Despite recent efforts in discovering novel long non-coding RNAs (lncRNAs) and unveiling their functions in a wide range of biological processes their applications as biotechnological or therapeutic tools are still at their infancy. We have recently shown that AS Uchl1, a natural lncRNA antisense to the Parkinson's disease-associated gene Ubiquitin carboxyl-terminal esterase L1 (Uchl1), is able to increase UchL1 protein synthesis at post-transcriptional level. Its activity requires two RNA elements: an embedded inverted SINEB2 sequence to increase translation and the overlapping region to target its sense mRNA. This functional organization is shared with several mouse lncRNAs antisense to protein coding genes. The potential use of AS Uchl1-derived lncRNAs as enhancers of target mRNA translation remains unexplored. Here we define AS Uchl1 as the representative member of a new functional class of natural and synthetic antisense lncRNAs that activate translation. We named this class of RNAs SINEUPs for their requirement of the inverted SINEB2 sequence to UP-regulate translation in a gene-specific manner. The overlapping region is indicated as the Binding Doman (BD) while the embedded inverted SINEB2 element is the Effector Domain (ED). By swapping BD, synthetic SINEUPs are designed targeting mRNAs of interest. SINEUPs function in an array of cell lines and can be efficiently directed toward N-terminally tagged proteins. Their biological activity is retained in a miniaturized version within the range of small RNAs length. Its modular structure was exploited to successfully design synthetic SINEUPs targeting endogenous Parkinson's disease-associated DJ-1 and proved to be active in different neuronal cell lines. In summary, SINEUPs represent the first scalable tool to increase synthesis of proteins of interest. We propose SINEUPs as reagents for molecular biology experiments, in protein manufacturing as well as in therapy of haploinsufficiencies

    Artificial Intelligence and Machine Learning in Prostate Cancer Patient Management-Current Trends and Future Perspectives

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    Artificial intelligence (AI) is the field of computer science that aims to build smart devices performing tasks that currently require human intelligence. Through machine learning (ML), the deep learning (DL) model is teaching computers to learn by example, something that human beings are doing naturally. AI is revolutionizing healthcare. Digital pathology is becoming highly assisted by AI to help researchers in analyzing larger data sets and providing faster and more accurate diagnoses of prostate cancer lesions. When applied to diagnostic imaging, AI has shown excellent accuracy in the detection of prostate lesions as well as in the prediction of patient outcomes in terms of survival and treatment response. The enormous quantity of data coming from the prostate tumor genome requires fast, reliable and accurate computing power provided by machine learning algorithms. Radiotherapy is an essential part of the treatment of prostate cancer and it is often difficult to predict its toxicity for the patients. Artificial intelligence could have a future potential role in predicting how a patient will react to the therapy side effects. These technologies could provide doctors with better insights on how to plan radiotherapy treatment. The extension of the capabilities of surgical robots for more autonomous tasks will allow them to use information from the surgical field, recognize issues and implement the proper actions without the need for human intervention

    Protocol of the Italian Radical Cystectomy Registry (RIC): a non-randomized, 24-month, multicenter study comparing robotic-assisted, laparoscopic, and open surgery for radical cystectomy in bladder cancer

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    Bladder cancer is the ninth most common type of cancer worldwide. In the past, radical cystectomy via open surgery has been considered the gold-standard treatment for muscle invasive bladder cancer. However, in recent years there has been a progressive increase in the use of robot-assisted laparoscopic radical cystectomy. The aim of the current project is to investigate the surgical, oncological, and functional outcomes of patients with bladder cancer who undergo radical cystectomy comparing three different surgical techniques (robotic-assisted, laparoscopic, and open surgery). Pre-, peri- and post-operative factors will be examined, and participants will be followed for a period of up to 24\u2009months to identify risks of mortality, oncological outcomes, hospital readmission, sexual performance, and continence

    Protocol of the Italian Radical Cystectomy Registry (RIC): a non-randomized, 24-month, multicenter study comparing robotic-assisted, laparoscopic, and open surgery for radical cystectomy in bladder cancer

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    Background: Bladder cancer is the ninth most common type of cancer worldwide. In the past, radical cystectomy via open surgery has been considered the gold-standard treatment for muscle invasive bladder cancer. However, in recent years there has been a progressive increase in the use of robot-assisted laparoscopic radical cystectomy. The aim of the current project is to investigate the surgical, oncological, and functional outcomes of patients with bladder cancer who undergo radical cystectomy comparing three different surgical techniques (robotic-assisted, laparoscopic, and open surgery). Pre-, peri- and post-operative factors will be examined, and participants will be followed for a period of up to 24 months to identify risks of mortality, oncological outcomes, hospital readmission, sexual performance, and continence. Methods: We describe a protocol for an observational, prospective, multicenter, cohort study to assess patients affected by bladder neoplasms undergoing radical cystectomy and urinary diversion. The Italian Radical Cystectomy Registry is an electronic registry to prospectively collect the data of patients undergoing radical cystectomy conducted with any technique (open, laparoscopic, robotic-assisted). Twenty-eight urology departments across Italy will provide data for the study, with the recruitment phase between 1st January 2017-31st October 2020. Information is collected from the patients at the moment of surgical intervention and during follow-up (3, 6, 12, and 24 months after radical cystectomy). Peri-operative variables include surgery time, type of urinary diversion, conversion to open surgery, bleeding, nerve sparing and lymphadenectomy. Follow-up data collection includes histological information (e.g., post-op staging, grading, and tumor histology), short- and long-term outcomes (e.g., mortality, post-op complications, hospital readmission, sexual potency, continence etc). Discussion: The current protocol aims to contribute additional data to the field concerning the short- and long-term outcomes of three different radical cystectomy surgical techniques for patients with bladder cancer, including open, laparoscopic, and robot-assisted. This is a comparative-effectiveness trial that takes into account a complex range of factors and decision making by both physicians and patients that affect their choice of surgical technique. Trial registration: ClinicalTrials.gov , NCT04228198 . Registered 14th January 2020- Retrospectively registered
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