523 research outputs found

    Experiences of living with Huntingtons disease

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    This thesis explores aspects of the lived experience with Huntington’s disease (HD). The first section presents a meta-ethnography, with the review question: ‘what is the experience of young people growing up in a family with HD?’ A systematic search was conducted which resulted in 13 papers for inclusion. Following the synthesis of the qualitative papers, 4 interrelated themes were formed: (1) thief of relationships, (2) thief of self, (3) thief of transparency and (4) search for reclamation. The findings contribute to understanding the complex impact of HD on the lives of young people and their experience of growing up in a family with HD. Further research could focus on psychological assessment to identify the needs of young people in HD families and, following this research, could assess the provision of services and the formation of accessible support. The second section presents the empirical research which sought to answer the question ‘what is the experience of maintaining psychological wellbeing when living at risk of HD?’ Twelve individuals living at risk of HD were interviewed using semi structured interviews. Interpretative Phenomenological Analysis (Smith et al., 2021) revealed three themes: (1) ‘you’re constantly in limbo’: living in two worlds, (2) “I have to live, just bloody live”: possibility of a time limited lifespan and (3) “is that who I am, is that what I am?”: the exhausting quest to be seen as an individual first. The findings explore how individuals managed their wellbeing and the complexities of living at risk. Further research could focus on the lack of support experienced by individuals and poor professional knowledge of HD. The third section presents a critical appraisal in which the similarities and differences of the meta-ethnography and empirical paper are discussed. Clinical implications are discussed further, with researcher reflections also presented

    Generating And Validating A Global Framework Of Pharmaceutical Development Goals And Corresponding Indicators

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    INTRODUCTION: The imperative of meeting current global healthcare challenges requires advancing pharmacy practice in a global context. This research aimed to design and develop a valid and consented set of global goal-oriented pharmaceutical development frameworks and corresponding indicators to support and guide systematic practice transformation needed to meet the national and global pharmaceutical healthcare demands of changing population demographics. METHODS: Part 1 of the research project This research used a mixed-methods approach. A series of international expert focus groups were conducted to evaluate the acceptance of a set of proposed global pharmaceutical development goals (PDGs). This was followed by recruiting global pharmacy leaders who participated in a modified nominal group technique to further develop the content of the initial PDGs framework. In a subsequent study, a qualitative modified Delphi approach was employed by a panel of international experts to ensure the credibility and content validity of the framework outputs and generate consensus on a final matrix of the proposed global PDGs. Part 2 of the research project A content analysis of the relevant collated data followed by a Delphi process of an international Expert Group was performed to identify and establish initial consensus on potential indicators aligned with the published PDGs framework. Delphi method’s outcomes were used to conduct a global cross-sectional online questionnaire to assess and validate the relevancy and availability of the proposed indicators. RESULTS: Part 1 of the research project A globally validated and consented set of systematic PDGs (systematic framework) for development comprising 21 PDGs along with their descriptions and mechanisms to shape and guide global pharmacy practice transformation. Part 2 of the research project A set of correlated and validated transnational evidence-based indicators that will monitor national-level progress and measure the advancement of the 21 PDGs worldwide across workforce/education, practice, and pharmaceutical science. CONCLUSION: A systematic and globally consented set of PDGs, along with evidence-based progress indicators, was generated to monitor the sustainable advancement of pharmaceutical practice and support a needs-based roadmap for pharmacy practice transformation

    Assessment and management of perioperative pain in neurosurgical patients

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    This PhD thesis investigated the assessment and management of pain in a neurosurgical population. A national survey of anesthesiologists in India was conducted to understand practices for pain assessment and management in patients undergoing neurosurgeries. The practices varied, with 50% using structured format for pain assessment/management, and 15% using opioids for postoperative pain relief. To understand the burden of pain after brain surgery in India, a prospective observational study was performed. Two out of three patients reported significant pain during the first three days of surgery. Reporting of pain is not possible under anesthesia. Hence, objective methods are explored. During tracheal intubation, changes in analgesia nociception index, a monitor for intraoperative pain/nociception, were found to correlate with changes in heart rate and blood pressure. Another parameter, the surgical pleth index, also predicted pain and response to analgesics during brain surgery. Non-opioid pain medicines were found to be equivalent to opioids in brain surgery, and superior in spine surgery, in clinical trials and the meta-analysis performed as part of this thesis

    The profiling and imaging of sterol molecules in the human brain

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    For this project we had a unique opportunity to truly explore sterol molecules within the human brain of healthy and disease individuals. Cholesterol, and its derivative oxysterols, are quickly becoming an important topic within neurodegenerative diseases, with published literature suggesting altered sterol profiles from the peripheral fluid in individuals with these disorders. The main aims of this work were to analyse oxysterols and cholesterol in neurodegenerative disease human brain tissue and corresponding controls using homogenisation to look whether the sterol profiles differ in Alzheimer’s disease, multiple sclerosis and cerebrotendinous xanthomatosis. We also aimed to develop and optimise a method to image cholesterol across intact brain tissue sections and quantify the cholesterol in regions of interest using mass spectrometry imaging. We successfully achieved the quantification of oxysterols in all neurological disorders named above and identified some significant differences in specific sterol pathways and metabolites in Alzheimer’s and multiple sclerosis homogenate tissue samples. Notably, we optimised a method to quantify and visualise cholesterol across intact tissue sections using isotope-labelled standards and matrix-assisted laser desorption/ ionisation (MALDI) - mass spectrometry imaging (MSI) and found significant changes in cholesterol in several regions of interest, including the lesions of human multiple sclerosis brain tissue and the inflammatory edge of white matter lesions using this method. We also observed differences in white matter brain stem regions of Huntington’s disease mouse brain tissue. These results highlight the importance of our optimised MALDI-MSI cholesterol method, identifying important changes in tissue that cannot be seen with standard immunohistochemical staining techniques. These changes could be telling of pathologies and mechanisms at play in neurodegenerative diseases and could help target biomarkers for future treatments

    The diagnosis of dystonia, an issue yet to be solved

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    Due to the lack of validated diagnostic biomarkers, the diagnosis of dystonia is based on clinical examination and therefore may be challenging and open to bias. The factors contributing to misdiagnosis of dystonia can be summarized in two main points: i) the huge variability in the clinical phenomenology of dystonia; ii) the existence of a bunch of medical conditions (i.e., pseudodystonia) mimicking the abnormal postures/movements induced by dystonia. This work is organized in two different part (Study 1 and Study 2) and the overall aim of the work is to help clinicians to better diagnosis idiopathic dystonia and functional dystonia. The objective of Study 1 is to identify clinical features suggestive of functional dystonia to guide physicians to distinguish functional dystonia from idiopathic dystonia. For this purpose, patient data were extracted from the Italian Registry of Functional Motor Disorders and the Italian Registry of Adult Dystonia. Patients with functional and idiopathic dystonia were followed up at the same clinical sites, and they were similar in age and sex. We identified 113 patients with functional dystonia and 125 with idiopathic dystonia. Sudden onset of dystonia, evidence of fixed dystonia, and acute peripheral trauma before dystonia onset were more frequent in the functional dystonia group. No study variable alone achieved satisfactory sensitivity and specificity, whereas a combination of variables yielded 85% sensitivity and 98% specificity. A diagnostic algorithm was developed to reduce the risk of misclassifying functional dystonia. The findings of Study 1 extend the current diagnostic approach to functional dystonia by showing that clinical information about symptom onset, fixed dystonia, and history of peripheral trauma may provide key clues in the diagnosis of functional dystonia. Study 2 was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia, which is the most frequent type of dystonia. For this reason, participants of Study 2 were video-recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3 to 6). Inter/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. The validation sample included 43 idiopathic cervical dystonia patients and 21 control subjects. The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). The findings of Study 2 show that an accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia. In conclusion, this work sheds more light on the complex topic of the diagnosis of dystonia. Indeed, the algorithms proposed in Study 1 and Study 2 provide a helpful tool for clinicians in their practice

    Online peer support for people with Young Onset Dementia: development of a best practice guidance

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    Introduction: Peer support can be very valuable for people with Young Onset Dementia (YOD) (diagnosis before the age of 65). People with YOD face unique challenges compared to older adults and often experience stigma. YOD can have a negative impact on someone’s sense of self, identity, and social roles in the community. Peer support provides social opportunities where people experience mutual understanding and empathy because they are all experiencing similar challenges. People also exchange practical information on dementia and signpost support services. In the United Kingdom, availability of age-appropriate, in-person peer support services is inconsistent, and many people may miss out on the potential benefits. Online peer support could be a solution, as it overcomes geographical barriers and offers a variety of platforms and modes of communication. The aim of this thesis was to develop a Best Practice Guidance on online peer support for people with YOD, and specific guidelines for peer support facilitators. Methods: This thesis followed the Medical Research Council (MRC) guidelines on complex interventions and focused on the development stage, including different sub-studies. First, a systematic literature study was conducted, followed by 4 focus groups, an online survey with 69 respondents, and 9 interviews. All participants were people living with YOD. Finally, participants, professionals, and researchers provided input on the Best Practice Guidance. Findings: For many people with YOD (online) peer support is a lifeline and gives hope and a sense of purpose. Some were hesitant to engage in peer support, for example because they were anxious about seeing others in an advanced stage, or they did not know what to expect. Others were unaware of online peer support options and how they could get involved. This indicates a need for better advertisement and signposting. The Best Practice Guidance provides (1) people with YOD with information on what online peer support entails, (2) group facilitators with guidelines on how to optimise online peer support for people with YOD, and (3) healthcare professionals with an opportunity to signpost to online peer support
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