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1
Chadwick, Helen Kay. "Cognitive function in cystic fibrosis and cystic fibrosis related diabetes (CFRD)." Thesis, University of Leeds, 2016. http://etheses.whiterose.ac.uk/16912/.
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Cystic fibrosis (CF) is a complex multisystem disease caused by a gene mutation of a protein called the CF Transmembrane Conductance Regulator (CFTR). Glucose tolerance abnormalities are common in CF and the prevalence of CF related diabetes (CFRD), which shares clinical characteristics with type 1 (T1DM) and type 2 diabetes (T2DM), increases with age. Impaired glucose tolerance (IGT), T1DM and T2DM are associated with cognitive impairment relative to healthy controls. The overall aim of this thesis was to examine cognitive function in CF. Study 1 investigated the impact of CF on cognitive function, in people with CFRD (n=49), people with CF who are not diabetic (CFND, n=49) and healthy controls (n=49). Memory, attention and processing speed, and cognitive flexibility was impaired in CFRD, and to a lesser degree in CFND, relative to healthy controls. Study 2 assessed cognitive function over a 1-3 year period in people with CFRD (N=36) and found no evidence of cognitive decline despite a decline in lung function. Study 3 compared cognitive function in people with CFRD who were post transplant (CFRDTx, n=18), people with CFRD (who were not post transplant, n=18), and healthy controls (n=18). CFRD was associated with impairment in attention and processing speed, spatial working memory, cognitive flexibility and to a lesser extent verbal memory. Cognitive function did not improve post transplantation in people with CFRD. Study 4 followed up people with CFRDTx (N=8) over an 18±6 month period and found no decline in cognitive function. Taken together, the evidence presented in this thesis suggests that diabetes in CF is associated with cognitive impairment, and that maintaining glycaemic control protects against cognitive decline. The cognitive impairment observed in people with CF is of clinical significance and has implications for self care and disease management. The recent discovery that CFTR is present in the pancreas and the brain has important implications for the effects of the new CFTR potentiator and corrector therapies on cognitive function in CF.
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Kahre, Tiina. "Cystic fibrosis in Estonia /." Online version, 2004. http://dspace.utlib.ee/dspace/bitstream/10062/577/5/KahrePhD.pdf.
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Dwyer, Tiffany Jane. "Exercise in cystic fibrosis." Thesis, The University of Sydney, 2010. http://hdl.handle.net/2123/6349.
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Exercise and physical activity have many benefits for adults with cystic fibrosis (CF), including the potential to aid mucus clearance, improve lung function, exercise capacity and quality of life. Despite the recommendations from consensus documents for CF adults to engage in regular physical activity, exercise participation amongst this population is often very low. No in-depth study has been undertaken to explore the determinants of exercise participation for this group and no studies have examined the benefits of habitual physical activity on the health status and quality of life of CF adults. As well, the current methods to quantify physical activity are problematic. The series of studies, involving CF adults, in this thesis was therefore undertaken in order to examine the physiological rationale for the use of exercise as an airway clearance technique, to understand the decision making process to engage in exercise, to determine if health status and quality of life were affected by exercise participation, and to establish the accuracy of a recently-developed objective measure of physical activity. The study in Chapter 2 provided some physiological rationale for choosing treadmill exercise to aid airway clearance in CF. The main findings were that a single bout of moderate intensity exercise increased the subjective ease of expectoration, most likely due to the increased ventilation with exercise, and that sputum viscoelasticity was favourably decreased immediately following treadmill exercise compared to cycle exercise and control. The studies in Chapters 3 and 4 identified the main beliefs regarding exercise for CF adults and highlighted that the main predictors of exercise intention and participation for this group were aspects of perceived and actual control to exercise, namely self-efficacy or confidence to exercise, feeling healthy, receiving encouragement to exercise, and rating exercise as a high priority treatment. Positive ratings of these aspects of control either increased exercise participation directly, indirectly by increasing intention, or strengthened the conversion of exercise intention to participation. Strategies aimed at targeting these aspects of control are therefore likely to be effective in increasing exercise participation for CF adults. The study in Chapter 5 demonstrated that CF adults, who reportedly performed at least 90 minutes of moderate to strenuous exercise per week, had significantly higher quality of life and fewer days in hospital over the following year than their peers, who exercised less. The difference in hospitalisation between the CF adults, who reportedly exercised more than 90 minutes per week and those who did not, was independent of baseline lung function, and the females who reportedly performed less than 90 minutes of exercise per week had three times as many days in hospital than their high-activity peers. The study in Chapter 6 showed that the SenseWear Pro3 Armband activity monitor provided a reasonable estimate of energy expenditure and step count. Also, its accuracy was not affected by diagnosis with CF, despite the potential for the high salt content in the sweat to interfere with the device’s physiological sensors placed on the skin. Overall, this series of studies adds to the growing evidence of the physical and psychological benefits from exercise participation for CF adults, as well as providing some empirical evidence upon which to base strategies to improve exercise participation for this group and support for an objective measure of physical activity.
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Dwyer, Tiffany Jane. "Exercise in cystic fibrosis." Discipline of Physiotherapy, Faculty of Health Sciences, University of Sydney, 2010. http://hdl.handle.net/2123/6349.
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Doctor of Philosophy (PhD)Exercise and physical activity have many benefits for adults with cystic fibrosis (CF), including the potential to aid mucus clearance, improve lung function, exercise capacity and quality of life. Despite the recommendations from consensus documents for CF adults to engage in regular physical activity, exercise participation amongst this population is often very low. No in-depth study has been undertaken to explore the determinants of exercise participation for this group and no studies have examined the benefits of habitual physical activity on the health status and quality of life of CF adults. As well, the current methods to quantify physical activity are problematic. The series of studies, involving CF adults, in this thesis was therefore undertaken in order to examine the physiological rationale for the use of exercise as an airway clearance technique, to understand the decision making process to engage in exercise, to determine if health status and quality of life were affected by exercise participation, and to establish the accuracy of a recently-developed objective measure of physical activity. The study in Chapter 2 provided some physiological rationale for choosing treadmill exercise to aid airway clearance in CF. The main findings were that a single bout of moderate intensity exercise increased the subjective ease of expectoration, most likely due to the increased ventilation with exercise, and that sputum viscoelasticity was favourably decreased immediately following treadmill exercise compared to cycle exercise and control. The studies in Chapters 3 and 4 identified the main beliefs regarding exercise for CF adults and highlighted that the main predictors of exercise intention and participation for this group were aspects of perceived and actual control to exercise, namely self-efficacy or confidence to exercise, feeling healthy, receiving encouragement to exercise, and rating exercise as a high priority treatment. Positive ratings of these aspects of control either increased exercise participation directly, indirectly by increasing intention, or strengthened the conversion of exercise intention to participation. Strategies aimed at targeting these aspects of control are therefore likely to be effective in increasing exercise participation for CF adults. The study in Chapter 5 demonstrated that CF adults, who reportedly performed at least 90 minutes of moderate to strenuous exercise per week, had significantly higher quality of life and fewer days in hospital over the following year than their peers, who exercised less. The difference in hospitalisation between the CF adults, who reportedly exercised more than 90 minutes per week and those who did not, was independent of baseline lung function, and the females who reportedly performed less than 90 minutes of exercise per week had three times as many days in hospital than their high-activity peers. The study in Chapter 6 showed that the SenseWear Pro3 Armband activity monitor provided a reasonable estimate of energy expenditure and step count. Also, its accuracy was not affected by diagnosis with CF, despite the potential for the high salt content in the sweat to interfere with the device’s physiological sensors placed on the skin. Overall, this series of studies adds to the growing evidence of the physical and psychological benefits from exercise participation for CF adults, as well as providing some empirical evidence upon which to base strategies to improve exercise participation for this group and support for an objective measure of physical activity.
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Utley, Courtney, and Kristen L. McHenry. "Advances in Cystic Fibrosis." Digital Commons @ East Tennessee State University, 2016. https://dc.etsu.edu/etsu-works/2546.
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The purpose of this review was to identify the history of and advances in cystic fibrosis (CF). New treatment plans, medication developments, and a historical perspective of airway clearance therapy (ACT) will be presented. The importance of treatment compliance and time management in the care of cystic fibrosis patients will also be discussed. Furthermore, the development of cystic fibrosis clinics and the pivotal role they play in the treatment of the disease will be addressed. Lastly, a brief discussion concerning the need for and process of lung transplantation will be reported.
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Dobson, Lee. "Glucose tolerance in cystic fibrosis." Thesis, University of Exeter, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403679.
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Hurley, Matthew. "Lung infection in cystic fibrosis." Thesis, University of Nottingham, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.716679.
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Cystic fibrosis (CF) is characterised by viscid secretions that, in the lungs, pre-dispose to infection. Many people with CF experience 'pulmonary exacerbations' accompanied by intermittent deteriorations in lung function. Pulmonary exacerbations are associated with a more rapid decline in lung health over time and are associated with infection. Early infection managed aggressively may be successfully eradicated. With successive infections and cumulative lung damage, chronic infection is established. Chronic infection leads to progressive decline in lung function with associated reductions in quality of life and increased treatment burden, morbidity and mortality. Naturally antibiotic-tolerant organisms that evolve resistance to commonly used antibiotics are problematic, in particular Pseudomonas aeruginosa. As is the case with other organisms that cause lung infection in those with CF, P. aeruginosa's antibiotic tolerance and ability to establish chronic infection is thought to be conferred through the biofilm mode of growth. The adaptability of the organism to pressures exerted by antibiotics and competition within the lung environment promote antibiotic resistance. New strategies effective in preventing and managing chronic infection are likely to yield improvement in survival and quality of life, however the development of such agents is yet to materialise.
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Downey, D. G. "Airways inflammation in cystic fibrosis." Thesis, Queen's University Belfast, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269047.
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Evans, Katharine Sarah Emily. "Cystic Fibrosis and the eye." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/54848/.
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Cystic Fibrosis (CF) results from the defective function of CF Transmembrane Conductance Regulator (CFTR), an ion channel which facilitates epithelial chloride secretion. Previous observations of dry eye and abnormal visual function in CF subjects have been considered secondary manifestations due to associated vitamin A deficiency (VAD) and CF-related diabetes (CFRD). However, CFTR is fundamentally present in the corneal, conjunctival and retinal pigment epithelium and the corneal endothelium. The hypothesis for this thesis was that abnormal chloride secretion in CF causes reduced basal tear secretion and abnormal photoreceptor function: these investigations aimed to identify primary and secondary ocular manifestations of CF. Fluorescein tear break-up time was significantly reduced in adult CF subjects compared to healthy controls. Increased signs of ocular surface inflammation and higher tear feming grades were recorded in CF subjects, although differences failed to reach significance. Tear film stability was further reduced in CF adults with VAD suggesting the aetiology of dry eye appears to be a combination of primary and secondary manifestations of the disease. Visual function was essentially normal in CF juveniles but was adversely affected in CF adults compared to controls. Impaired distance and near visual acuity (DVA and NVA), contrast sensitivity (CS), dark adaptation (DA) and colour vision (CV) appeared to be a primary manifestation as differences were exaggerated in subjects with predicted increased levels of CFTR disruption and disease severity. These results provide support for the hypothesis and suggest normal rod and cone photoreceptor function are compromised by abnormal CFTR action. DVA, NVA, CS and DA were significantly affected by CFRD status and DA and CV were similarly reduced in VAD subjects. Therefore, abnormal visual function in CF is further modulated by secondary disease characteristics. These findings present the distinction between primary and secondary ocular manifestations of CF, which is novel to this investigation.
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Wright, Adam. "The macrophage in cystic fibrosis." Thesis, University of Leicester, 2007. http://hdl.handle.net/2381/8783.
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Background: Cystic fibrosis (CF) is caused by absent/defective CF transmembrane conductance regulator protein (CFTR). CF is characterized by thick airway mucus, chronic infection and neutrophil inflammation leading to respiratory failure. I analysed airway macrophages (MΦs) and their expression of pattern recognition receptors (PRRs) in CF, since these cells are crucial to airway immune defence and they can orchestrate inflammation. I also performed transcript analysis of CF monocyte-derived MΦs (MDMs). Methods: Sputum was induced in CF paediatric and adult cohorts. Phenotype and function of CF MΦ were determined by flow cytometry and compared to controls. Monocytes (>92% purity) were grown in vitro to generate MDMs (n=15). Transcripts encoding the entire human genome were analysed (n=5) and expression of individual genes were confirmed by RT-PCR. Results: In classical CF (n=10) there was an increase in the proportion of monocyte-like small MΦs (of total MΦ) compared to controls (n=10) (73 ± 18% and 16 ± 8%, respectively, p< 0.0001). In non-classical CF (n=4), with milder lung disease, small MΦs increased to 31 ± 20% (p>0.05). PRRs were absent on small MΦs from CF and control. In contrast, clear expression could be detected on large MΦs from control but not CF. In line with this, CF small MΦs showed a strongly reduced uptake of particles compared to controls. Microarray analysis of MDMs revealed α- and β-tryptase as being significantly higher under constitutive and stimulated conditions in CF compared to control. However, using RT-PCR, expression of α- and β-tryptase was similar between groups. Conclusions: The phenotype of small MΦs in CF suggests that these cells are newly recruited monocytes from blood. Low expression of PRRs on these cells in CF and their reduced uptake indicates a reduced capacity to clear inhaled particles, which may contribute to further damage in CF. Further to this I was unable to confirm any transcript differences between CF and control MDMs due to mutant CFTR.
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Rao, Satish Ramakrishna. "Blood monocytes in cystic fibrosis." Thesis, University of Leicester, 2009. http://hdl.handle.net/2381/7345.
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Background: Neutrophilic inflammation causes lung damage in cystic fibrosis (CF). Recent data from animal models and other chronic pulmonary inflammatory conditions suggest that the monocytes/macrophages may be an important driver of airway inflammation. CF may be associated with increased airway levels of chemoattractants for monocytes and resulting expansion of CD14++ small macrophages. I sought to assess the levels of monocyte chemoattractants CCL2 and CX3CL1 in the blood and airways of CF patients, and expression of their respective receptors CCR2 and CX3CR1 on monocytes. In a pilot study, I sought evidence for expansion of airway CD14++ small macrophages. Methods: Blood was obtained from 32 CF patients and 25 healthy controls; and induced sputum (IS) from 24 CF patients and 17 healthy controls. Flow cytometry was used to determine expression of CCR2 and CX3CR1 on CD14++ and CD14+CD16+ blood monocytes and to characterise IS airway macrophages. CCL2 and CX3CL1 levels in blood and IS were determined by ELISA. Results: Absolute count of total monocytes and monocytes subpopulations was not different between CF and controls. Serum CCL2, but not CX3CL1, was increased in CF patients (p=0.006). Similarly, CF was associated with increased IS CCL2, but not CX3CL1 (190.6 vs. 77.3 pg/mL; p=0.029). CCR2 was expressed on CD14++ monocytes but not on CD14+CD16+ monocytes. Both CD14+CD16+ and CD14++ cells expressed CX3CR1 but the expression was higher in CD14+CD16+ cells compared to the CD14++ cells. There was no difference in expression of both chemokine receptors by either monocyte subpopulation between CF and controls. Small macrophages were significantly increased in CF airways (p=0.018). Conclusion: CCL2, but not CX3CL1 is increased in the airway and blood of CF patients. Blood monocytes from CF patients are phenotypically competent to respond to CCL2, since they express normal levels of CCR2. Preliminary results suggest an expansion of small macrophages in CF airways.
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O'Rawe, Angela Marie. "Energy balance in cystic fibrosis." Thesis, Queen's University Belfast, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261933.
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McCloskey, Margaret. "Energy balance in cystic fibrosis." Thesis, Queen's University Belfast, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287209.
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Smith, David L. "Nocturnal hypoxaemia in cystic fibrosis." Thesis, University of Southampton, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296267.
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Hiscox, Rachel Joy. "The retina in cystic fibrosis." Thesis, Cardiff University, 2013. http://orca.cf.ac.uk/59738/.
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Cystic fibrosis (CF) is caused by defective function of CF Transmembrane Conductance Regulator (CFTR), an epithelial ion channel that facilitates chloride secretion. Previous research has identified impaired dark adaptation (DA) in CF, which has been attributed to concomitant vitamin A deficiency or CF-related diabetes (CFRD). However, CFTR has been localised to the retinal pigment epithelium (RPE) and it is proposed that abnormal DA could be a primary manifestation of CF. DA is similarly impaired in individuals with type 1 and 2 diabetes and is thought to be caused by retinal hypoxia as oxygen inhalation ameliorates abnormal thresholds. The aim of this thesis was to investigate DA during oxygen inhalation in CF subjects with and without CFRD to gain further insight about the aetiology of this abnormal DA. The work also aimed to examine retinal structure using optical coherence tomography (OCT) to determine the consequences of CFTR dysfunction at the RPE. Final DA thresholds were not impaired in CF subjects as a whole during the inhalation of air. However, when grouped according to diabetic status, CFRD subjects showed a significantly elevated final rod threshold which was ameliorated following oxygen inhalation. This suggests that the retina is hypoxic in CFRD subjects and that impaired DA in CF is secondary to CFRD rather than a primary manifestation of CFTR malfunction at the RPE. Contrary to the proposed hypothesis, retinal and RPE/photoreceptor layer thickness was significantly thinner in CF subjects. These results suggest that impaired CFTR function at the RPE does not directly affect retinal structure. · In conclusion, this is the first study to determine that retinal structural and functional abnormalities are not caused directly by CFTR dysfunction but are a secondary manifestation of the disease. Further research is necessary to understand the impact of these findings.
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McIlwaine, Patricia Margaret. "Airway clearance in cystic fibrosis." Thesis, Ulster University, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625501.
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This thesis overviews and highlights a body of work performed at the BC Children's Hospital, Vancouver, Canada between 1986 and 2013, and involving travel to Belgium, Denmark and the United Kingdom. It is based on five articles published by McIlwaine on research and development in the use of various airway clearance techniques for the treatment of cystic fibrosis, namely: Autogenic Drainage; Positive Expiratory Pressure; Oscillating Positive Expiratory Pressure; and High Frequency Chest Wall Oscillation. The thesis comprises of seven chapters, including the introduction. Chapter 2 presents the physiological evidence and theories to support each technique. Chapter 3 describes various types of airway clearance studies based on the published studies submitted by McIlwaine and discusses barriers and challenges related to each study design. A clinical research pathway for future airway clearance studies is proposed. Chapter 4 examines the use of outcome measures for each stage of the pathway. Chapter 5 is based on the most recent published paper by McIlwaine, and offers an overview on how to optimise designing a multi-centre clinical airway clearance study, identifying challenges and barriers to performing such a study. The work presented in this thesis has contributed to research by furthering an understanding of the physiology upon which various airway clearance techniques are based, as well as providing guidance on the use of appropriate outcome measures. The published papers underlying the thesis have validated the airway clearance techniques of Autogenic Drainage and positive Expiratory Pressure and have in-validated the use of Oscillating PEP using Flutter and High Frequency Chest Wall Oscillation, in the treatment of cystic fibrosis. Outcomes of this work have lead to a change in clinical practice, in Europe and N. America, and have had a direct and positive effect in decreasing the burden of care in people living with cystic fibrosis.
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Ward, Andrew. "A cystic fibrosis infection monitor." Thesis, University of Strathclyde, 2015. http://oleg.lib.strath.ac.uk:80/R/?func=dbin-jump-full&object_id=26047.
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Vitko, Megan Sue. "Intestinal Dysfunction in Cystic Fibrosis." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case1459248266.
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Bizzell, Laurie. "Maternal Stress and Cystic Fibrosis." Thesis, University of North Texas, 1996. https://digital.library.unt.edu/ark:/67531/metadc278693/.
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The purpose of the current study was to examine the relationship between parent and child factors for mothers of children diagnosed with cystic fibrosis to predict mother's psychological distress. Mothers were surveyed to identify measurement models in areas of Child and Parental characteristics and a Full Causal Model of Maternal distress. Factors related to Child Characteristics include general parental stressors and cystic fibrosis specific parental stressors. Factors related to Parental Characteristics include the mother's sense of parental competence and self-esteem. Additional factors related to the Full Causal Model include social support, major and minor life events, and demographics. Results were analyzed using LISREL IV structural equation modeling. Measurement model analysis found a good fit for the Child Characteristics model (Chi Square = 6.85, df = 4, JD = .144, Goodness of Fit Indices = .972) and Parental Characteristics model (Chi Square = 5.89, df = 3, p = .117, Goodness of Fit Indices = .971), but not for the full causal model of maternal distress (Chi Square = 114.98, df = 66, E = .000, Goodness of Fit Indices = .853)
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Putman, Melissa. "Cystic Fibrosis Related Bone Disease." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17613728.
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Over the past several decades, life expectancy for patients with cystic fibrosis (CF) has increased significantly. As patients live longer, other nonpulmonary co-morbidities related to CF have become increasingly prevalent, including CF-related bone disease. Because CF related bone disease has only recently emerged as a clinical problem, and the underlying bone alterations and pathogenesis of this condition have not been established.
This thesis explores the underlying bone micro-architecture and strength alterations found in adults with CF using state-of-the-art bone imaging techniques and explores whether improvements in the treatment of patients with CF over the past 15 years has led to similar improvements in bone health.
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Durham, Dixie Lea. "Survey of adult cystic fibrosis patients and parents of cystic fibrosis patients on nutrition education." [Boise, Idaho] : Boise State University, 2009. http://scholarworks.boisestate.edu/td/8/.
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Enes, Giovana da Silva Tavares 1982. "Fibrose cística = estreitando laços maternos = Cystic fibrosis : strengthening maternal ties." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308361.
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Orientador: Antonio Fernando RibeiroDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: A Fibrose Cística é uma doença autossômica recessiva, sistêmica, hereditária, crônica e progressiva e pode levar à morte. São características da doença as secreções mucosas espessas e viscosas que obstrui os ductos das glândulas exócrinas e contribuem para o aparecimento de doença pulmonar obstrutiva crônica, insuficiência pancreática com má digestão e má absorção e conseqüente desnutrição secundária, além de níveis elevados de eletrólitos no suor. Por ser uma doença crônica, ela exige cuidados sistemáticos pela vida toda, e na maioria dos casos quem exerce a função de cuidadora é a mãe. Além de viver uma nova experiência de ser mãe, ela terá que conviver com a frustração dele ser doente.Com este estudo foi possível compreender a relação que mãe e filho doente crônico constroem desde o momento do diagnóstico e conhecimento do tratamento, permeados por sentimentos como culpa e solidão. Assim, essas mães renunciam suas próprias vidas em função do cuidado do filho. Cuidados esse compartilhado com uma equipe de saúde multiprofissional ainda deficitária. Apesar de ter sido avaliado por elas como positivo, as sugestões por melhorias também surgiram: como uma melhor articulação entre os serviços de saúde nos diversos níveis, uma maior divulgação da doença e o aumento do número de dias de atendimento. Outro aspecto importante encontrado foi sobre importância do papel do psicólogo não só na atuação com o paciente e a família durante todo o tratamento; mas também na necessidade de oferecer um espaço para que os profissionais de saúde despreparados pudessem compartilhar suas angústias e frustrações o que reflete diretamente na assistência prestada
Abstract: The Cystic Fibrosis is a disease systemic, hereditary, chronic and progressive and it can lead to the death. There are characteristic of the disease the thick and viscous mucous secretions what it obstructs the ducts of the exocrine glands and contribute to the appearance of chronic obstructive pulmonary disease, pancreatic insufficiency with bad digestion and bad absorption and consequent secondary malnutrition, besides elevated levels of electrolytes in the sweat. Because of being a chronic disease, she demands systematic cares for the life completely, and in most of the cases who plays the function of care is the mother. Besides surviving a new experience of being a mother, she will have to coexist in spite of the fact that his frustration to be doente.Com this study there were possible understood the relation what mother and chronic sick son build from the moment of the diagnosis and knowledge of the treatment, permeated by feelings as fault and solitude. So, these mothers renounce his lives themselves in function of the care of the son. Taken care this shared one with a team of still deficient multiprofessional health. In spite of having been valued by them like positive, the suggestions for improvements also appeared: like a better articulation between the health services in several levels, a bigger spread of the disease and the increase of the number of service days. Another considered important aspect was on importance of the paper of the psychologist not alone in the acting with the patient and the family during the whole treatment; but also in the necessity of offering a space so that the unprepared health professionals could share his anguishes and frustrations what thinks straightly about the given presence
Mestrado
Saude da Criança e do Adolescente
Mestre em Ciências
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Ball, Lindsay Clare. "Cystic fibrosis and vitamin D supplementation." Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2010. https://www.mhsl.uab.edu/dt/2010m/ball.pdf.
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Andersson, Charlotte. "Towards Pharmacological Treatment of Cystic Fibrosis." Doctoral thesis, Uppsala University, Department of Medical Cell Biology, 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2634.
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S-nitrosogluthatione is an endogenous substance, present at decreased levels in the lungs of CF patients and was recently found to induce mature CFTR in airway epithelial CF cell lines. We show that S-nitrosoglutathione in physiological concentrations increases the presence of ΔF508 CFTR in the cell membrane and induces cAMP dependent chloride transport in cystic fibrosis airway epithelial cells. The properties of S-nitrosoglutathione include other potential benefits for the CF patient and make this agent an interesting candidate for pharmacological treatment of CF that needs to be further evaluated.
Genistein was found to increase the chloride efflux in both normal and ΔF508 cells without stimulation of cAMP elevating agents and without prior treatment with phenylbutyrate. Genistein, in concentrations close to those that can be detected in plasma after a high soy diet, could induce chloride efflux in cells with the ΔF508 CFTR mutation and its possible use in the treatment of CF should therefore be further investigated.
Studies on nasal epithelial cells from CF patients showed cAMP dependent chloride efflux in some of the patients with severe genotypes. This may complicate in vitro evaluation of clinical treatment of these patients. The presence of cAMP dependent chloride transport did not necessarily lead to a milder phenotype. Other factors than CFTR may influence the clinical development of the disease.
Cystic fibrosis (CF) is the most common monogenetic disease among Caucasians. A defective cAMP regulated chloride channel (cystic fibrosis transmembrane conductance regulator, CFTR) in epithelial cells leads to viscous mucus, bacterial infections, inflammation and tissue damage in the lungs that cause death in 95% of the cystic fibrosis patients. There is no cure for the disease although existing treatment has dramatically prolonged the life expectancy. The aim of this thesis was to study pharmacological agents for their ability to restore the cellular deficiency in CF airway epithelial cells. X-ray microanalysis, MQAE fluorescence and immunocytochemistry were used to evaluate the effects.
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Dunlevy, Fiona Kathleen Carol. "Protease-antiprotease imbalance in cystic fibrosis." Thesis, Queen's University Belfast, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.491992.
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Affects over 8000 patients In the UK. Persistent neutrophilic inflammation is associated with high levels of airway NE. DX-890 is a smallprotein inhibitor ofNE developed by Dyax, USA for use in CF. This project investigated the ex-vivo effects ofDX-890 on human sputum, neutrophils and epithelial cells, to help determine the potential ofDX-890 as a drug for CF. The Ki ofDX-890 was measured to be 11.12 pM. ICso values measured in pure NE and CF sol were similar, demonstrating that DX-890 retained activity in CF sol. Thickened dehydrated CF mucus may prevent access ofDX-890 to NE and reduce efficacy ill vivo. It was hypothesised that, by reducing stickiness of sputum with DNase or surfactant, DX-890 activity would be enhanced. DX-890 inhibited significantly more NE when sputum was pre-treated with surfactant ill vitro. DX-890 reduced release of active NE from fMLP-activated neutrophils and it was found that DX-890 also inhibits NE inside the neutrophil. DX-890 significantly reduced transmigration of neutrophils across a monolayer ofepithelial cells in response to fMLP, implicating NE activity in the process of transmigration. Nasal epithelial cells from CF and non-CF participants were grown in a monolayer and release of the proinflammatory mediator IL-8 was measured. DX-890 prevented NE induced IL-8 release and also IL-8 release induced by CF sol. In conclusion, inhibition ofNE with DX-890 may reduce airway inflammation by minimising production of IL-8 from epithelial cells, and release of active NE from neutrophils. DX-890 efficacy in whole sputum may be enhanced by co-treatment with surfactant. Used in conjunction with current CF therapies such as antibiotics and physiotherapy, DX-890 may help prevent lung damage and prolong life by reducing airway
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Govan, John R. W. "Pseudomonas, alginate biosynthesis and cystic fibrosis." Thesis, University of Edinburgh, 1994. http://hdl.handle.net/1842/28137.
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Hill, Warren G. "Sulphation of glycosaminoglycans in cystic fibrosis /." Title page, contents and abstract only, 1995. http://web4.library.adelaide.edu.au/theses/09PH/09phh648.pdf.
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Guilbault, Claudine. "Regulation of inflammation in cystic fibrosis." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=100615.
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Cystic fibrosis (CF) female patients have a worse prognosis compared to their male counterparts. CF patients infected with Pseudomonas aeruginosa have also been shown to have dysregulated cytokine profiles. Therefore, we studied the importance of sex and interleukin-10 in the susceptibility of C57BL/6 mice to pulmonary infection with P. aeruginosa. The results clearly demonstrate that both wildtype and interleukin-10 knockout (KO) female mice are more susceptible to P. aeruginosa infection than males, and that they mount a stronger inflammatory response in the lungs.Several animal models of CF show most of the CF symptoms; however, only a few of these display the CF lung phenotype. The cystic fibrosis transmembrane conductance regulator (Cftr)-KO mice that we developed in collaboration with Drs. Tsui and Kent represent a unique model of spontaneously occurring lung disease. We studied the characteristics of this model and analyzed the differences between the lungs of wildtype and Cftr-KO mice by assessing their histopathological status, gene and protein expression and fatty acid profiles.
We recently developed a novel non-invasive method of lung infection. The studies described contain major improvements for lung infection techniques employing P. aeruginosa bacteria embedded in agar beads. This novel and less invasive technique is crucially important in studying the host response to bacterial infection using the Cftr-KO mouse model.
CF lung disease is also characterized by imbalanced lipid profiles. Interestingly, docosahexanoic acid (DHA) has been shown to have antiinflammatory properties and to reverse intestinal and pancreatic pathologies in a CF mouse model. We have therefore treated our Cftr-KO mice developing spontaneous lung disease with DHA and observed a reduction in lung inflammation in the CF-affected organs compared to the untreated Cftr-KO mice.
It has also been demonstrated that ceramide is crucially important for P. aeruginosa internalization. Fenretinide is a synthetic retinoid inducing the cellular level of ceramide. Using our Cftr-KO mouse model, we tested the effect of fenretinide treatment during the course of lung infection with P. aeruginosa. Interestingly, we observed major decrease in the bacterial burden of Cftr-KO mice that were treated with fenretinide.
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Manson, Ania Louise. "Modelling the cystic fibrosis RII7H mutation." Thesis, Imperial College London, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300628.
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Hull, James H. K. "Large artery haemodynamics in cystic fibrosis." Thesis, Kingston University, 2010. http://eprints.kingston.ac.uk/20343/.
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Cystic Fibrosis (CF) is the most common lethal autosomal recessive condition and affects approximately 1/2500 Caucasian newborns in the United Kingdom and 70,000 individuals worldwide. The gene defect classically leads to a phenotype comprising significant respiratory I and gastrointestinal manifestations, however is recognised to have multisystem consequences. Over the past 70 years there has been considerable progress in the understanding and treatment of CF such that it has moved from a poorly understood condition, almost universally fatal in infancy, to a complex multisystem disorder now affecting as many adults as children. This 'evolution' of the disease presents new challenges for clinicians and has increased focus on its extra-pulmonary components. In the general population cardiovascular disease is the leading cause of morbidity and mortality and it is now recognised that progressive changes in the structure and function of the large arterial system are a key determinant of this association. Furthermore these changes lead to alterations in large artery haemodynamics which have immediate physiological relevance for myocardial work and oxygen demand but also perfusion of the distal organs. Modern techniques permit large artery haemodynamics to be evaluated simply and effectively using the non-invasive technique of applanation tonometry with pulse wave analysis. The overall aim of this thesis was to use this technique to provide an evaluation of large artery haemodynamics in a cohort of adult patients with CF. The experimental work in this thesis includes a study assessing the validity of the haemodynamic techniques used in this thesis (study A) and three studies evaluating large artery haemodynamics in patients with CF; at rest (study I), in response to exercise (study II) and finally following a therapeutic intervention (study III).
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Behrends, Volker. "Metabolic profiling of cystic fibrosis pathogens." Thesis, Imperial College London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511871.
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Trainor, D. M. "Physicochemical characterisation of cystic fibrosis sputum." Thesis, Queen's University Belfast, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.398172.
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O'Neill, K. "Lung clearence index in cystic fibrosis." Thesis, Queen's University Belfast, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.680240.
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The emergence of new treatments in Cystic Fibrosis (CF) has emphasised the need for sensitive, repeatable, responsive and feasible measures of lung disease. FEV I is limited as an assessment tool as it is insensitive to changes in the peripheral airways. Lung Clearance Index (LCI) is proposed as an outcome measure for the detection of early lung disease and use in CF clinical trials. The use of LCI in CF is supported by the large number of studies demonstrating its robustness. However, most studies have been performed in children, with only approximately 20% of studies including adults. The aim of this study was to examine the clinimetric properties of LCI and to assess the relationships between LCI and other physiological, clinical and microbiological markers of disease in a CF child and adult group. Results of this study show that LCI had good intra and inter-visit repeatability over a longer term period. LCI had superior sensitivity to lung function abnormality and Pseudomonas aeruginosa infection, compared to FEV 1 % predicted. On assessment of routine microbiological culture results, subjects with P. aeruginosa alone had the worst LCI. Extended culture methods to detect the entire airway micro biota composition, showed that subjects with a smaller load of anaerobic bacteria had a worse LCI. LCI also correlated with biomarkers of inflammation. These results suggest that LCI may be sensitive to differences in airway microbial community composition and inflammation. Compared to spirometry, LCI correlated with more patient reported symptom and health related quality of life questionnaire scores. However, the response of LCI with intravenous antibiotic treatment for pulmonary exacerbation was not statistically significant. FEV I % predicted may be more responsive across the disease severity range in this setting. Overall, this study has shown that LCI is a robust, sensitive and meaningful measure for use in clinical trials during clinical stability, across the age range in CF.
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Hayward, Caroline Irma. "Biochemical studies of cystic fibrosis antigen." Thesis, University of Edinburgh, 1987. http://hdl.handle.net/1842/18950.
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Choudhury, Maitrayee. "Complications in cystic fibrosis-related diabetes." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/100648/.
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Cystic fibrosis-related diabetes (CFRD) is a secondary form of diabetes, associated with increasing age in subjects with Cystic Fibrosis (CF). With improved life expectancy, CFRD is anticipated to increase in prevalence in addition to its complications. The aim of this study was to investigate the use of HbA1c as an early predictor of disease, as well as investigate microvascular and macrovascular complications in an adult CF cohort attending the All Wales Cystic Fibrosis Centre. The current method of using the conventional oral glucose tolerance test (OGTT) to diagnose CFRD was compared to using glycated haemoglobin (HbA1c). The findings demonstrated that a HbA1c value ≥ 5.5%/36mmol/mol was significantly predictive of the development of dysglycaemia over a 6-year period. The association between HbA1c and development of diabetic retinopathy (DR) was analysed. The study demonstrated 23% of CF patients with CFRD screened for DR had evidence of moderate to severe diabetic retinopathy. They had a higher HbAc1 and longer duration of CFRD compared to those without severe forms of DR. This suggests that microvascular complications are present in CFRD and to a similar extent as in type 1 diabetes mellitus. The prevalence of cardiac autonomic neuropathy (CAN) in CFRD was tested in 71 subjects with CF. CF subjects who were of an older age group demonstrated an inverse correlation with heart rate variability (HRV) during deep breathing (p < 0.05). CF dysglyaemic individuals with severe forms of diabetic retinopathy had reduced HRV during deep breathing compared to subjects with mild or no DR (p < 0.05). The presence of arterial stiffness in CFRD was examined in 65 CF subjects and 31 healthy volunteers. Age, gender and mean arterial pressure were significant predictors of increased augmentation index (AIx) and pulse wave velocity (PWV). Glycaemic control did not influence the arterial stiffness measurement outcomes. The CF group demonstrated a greater Aix than healthy volunteers (HV) (P < 0.05) when other variables were controlled in the analysis, suggesting possible increased inflammatory mechanism leading to increased Aix accounting for these findings. CF dysglycaemic subjects had greater PWV than CFNGT subjects which was only significant at the 10% level. The study findings demonstrate HbA1c has a predictive value in the diagnosis of CFRD based on a positive OGTT. Severe DR is prevalent in CFRD and is associated with a reduction in HRV during deep breathing. Glycaemic control is not predictive of arterial stiffness, in contrast to age, gender and MAP. Thus future consideration of the use of HbA1c may help to predict individuals with underlying dysglycaemia and reduce the risk of the development of associated microvascular complications.
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Rymut, Sharon Marie. "Microtubule Regulation in Cystic Fibrosis Pathophysiology." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1432730616.
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McHugh, Daniel R. "PHARMACOLOGICAL CORRECTION OF CYSTIC FIBROSIS MANIFESTATIONS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1554738017086895.
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Miedzybrodzka, Zofia Helena. "Antenatal carrier screening for cystic fibrosis." Thesis, University of Aberdeen, 1995. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU541313.
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This thesis explores the advantages and disadvantages of various aspects of antenatal carrier screening for cystic fibrosis, taking into account both psychological and economic factors. It also provides information specific to the implementation of screening within Grampian region. Following the introductory literature review, a population genetic study of CF in Grampian region is described. In addition to giving information about the incidence and prevalence of the disease itself, the relative frequencies of the common CF mutations are detailed. Next, there is an assessment of different molecular methods for CF mutation detection. The remainder of the thesis comprises a comparative evaluation of two different approaches to antenatal CF carrier screening, namely step-wise (disclosure) and couple (non-disclosure) testing. The evaluation covers both psychological and economic aspects of screening. Grampian was found to have a higher prevalence of the common CF mutation F508 than the southern Scottish population. Thus testing for the four commonest mutations allows detection of 92% of carriers. The use of multiplex ARMS, dot-blotting and a deletion/digest/PAGE method were compared. The multiplex ARMS system was sensitive, specific and robust, and required less labour than the other methods. Step-wise antenatal carrier screening was found to be associated with transiently high levels of anxiety amongst carriers, which dissipates when a negative partner's result is received. For the majority of screenees who will test negative, couple screening is associated with more anxiety and false reassurance. Step-wise screening was found to be slightly less expensive than couple screening. When asked to state their preferred method, more women chose step-wise than couple screening.
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Helm, Jennifer. "Assessing glycaemic control in cystic fibrosis." Thesis, University of Manchester, 2011. https://www.research.manchester.ac.uk/portal/en/theses/assessing-glycaemic-control-in-cystic-fibrosis(44f8e211-ef09-468d-ad22-f393457eb51b).html.
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Four studies investigating the assessment of glycaemic control in cystic fibrosis are presented within this thesis. The first was a validation study of continual glucose monitoring (CGM) in cystic fibrosis (CF). 50 stable adults with CF underwent home CGM for 3 days, during which time they attended the CF centre for OGTT. Gold standard fasting (0 hour) plasma glucose and 2 hour plasma glucose values during OGTT were compared with concurrent CGM sensor glucose values using a 'limits of agreement' analysis. CGM was found to be valid in adults with CF, with its accuracy being consistent with that published in non-CF populations. The next investigation compared OGTT with CGM with several objectives: to determine whether OGTT is a relevant and adequate measure of glycaemia in CF, find out whether CGM could offer a superior alternative to OGTT and explore whether OGTT and CGM results are associated with prior change in lung function and weight in adults with CF. Data from the first study was used to show that the OGTT can only identify abnormal glycaemic control in CF at a late stage, and that CGM is a more relevant reflection of everyday glycaemia in CF. No correlation was found between prior change in lung function and nutritional status in CF and glycaemia measured by OGTT or CGM. The subsequent study investigated whether CGM could identify early abnormal glycaemic control in CF. This involved ten non-CF healthy controls undergoing the same study protocol as the 50 stable adults with CF, to determine 'normal' glycaemic control parameters. Of 25 CF patients with normal glucose tolerance by OGTT, 19 (76%) had significantly higher mean and/or variability of CGM levels than healthy controls. This lead to changes in their management, including 2 subjects being commenced on insulin therapy. The final investigation was a questionnaire study, asking the 50 CF patients to provide information on their experience of undergoing CGM. 58% of patients responded, with replies indicating that they found CGM broadly acceptable, interfering little in their lives and that their experiences were generally positive. This insight into patients' experiences of CGM can be used to guide future clinical and research roles for this tool. These studies have provided novel data regarding the assessment of glycaemic in CF. Information captured by CGM has greater relevance to CF patients' daily lives than OGTT. CGM can identify early problems with glycaemic control leading to changes in management that may not be detected by conventional measures. CGM offers potential in further clinical application and research to improve the lives and outcomes for adults with CF.
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Sullivan, Kayleigh. "New treatment options for cystic fibrosis." Thesis, Boston University, 2013. https://hdl.handle.net/2144/12234.
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Thesis (M.A.)--Boston UniversityCystic fibrosis (CF) is one of the most prevalent fatal autosomal recessive diseases in the United States. Although early diagnosis and improved treatment methods have helped increase the median predicted survival age of CF patients, CF remains a burdensome and life-threatening disease. Furthermore, the challenges of treating CF are amplified by the fact that there are over 1,800 known CF mutations. Recent advances in drug therapy have begun to target the main classes of CF mutations at the protein level, addressing mutational events instead of downstream disease processes. Three drugs, including ivacaftor, which has been approved by the United States Food and Drug Administration, and VX-809 and ataluren, which are still in clinical trial, have been shown to improve patient clinical measures. VX-809 targets the most prevalent CF mutation, F508del, and used in combination with ivacaftor was shown to significantly decrease mean sweat chloride concentrations and significantly increase forced expiratory volume in one second, an indicator of lung function. Almost 89 percent of people with CF have at least one copy of the F508del mutation and about 47 percent are homozygous for F508del, while ivacaftor is approved for use in only four percent of the CF population. For these reasons, if approved, use of VX-809 in combination with ivacaftor has the potential to benefit far more patients than ivacaftor ever could alone.
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Bhakta, Dharti, Kalyn Schmidt, Aubrey Silvester, Marcella Honkonen, and Hanna Phan. "Impact on Vitamin D Status in Cystic Fibrosis Patients After Implementation of 2012 Cystic Fibrosis Foundation Guidelines." The University of Arizona, 2015. http://hdl.handle.net/10150/614103.
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Class of 2015 AbstractObjectives: The primary objective of the study was to evaluate for change in vitamin D levels and regimens in cystic fibrosis (CF) patients following implementation of the 2012 Cystic Fibrosis Foundation (CFF) vitamin D guidelines. Secondary endpoints included clinician adherence to guideline recommendations for treatment and management of vitamin D deficiency. Methods: This retrospective chart review included CF patients with 25-hydroxy vitamin D (25(OH)D) levels from University of Arizona Medical Center (UAMC) between April 1, 2011-March 31, 2012 and July 1, 2012-June 30, 2013. Total 25(OH)D levels and vitamin D regimens were collected along with data on respiratory cultures, pulmonary function, and hospitalizations. Data were analyzed by Student’s T-tests and chi square analyses. Results: A total of 62 patients were included in the study. Mean 25(OH)D levels did not significantly differ between the study periods (28.9±10.5 ng/mL pre-guideline and 27.0±9.1 ng/mL post-guideline, p=0.158). Cholecalciferol use increased post-guideline (57.1%) versus pre-guideline (75.8%, p=0.027). Post-guideline cholecalciferol doses increased to 2836.5±2669.4 international units [IU] daily compared to 1518.0±912.0 IU daily pre-guideline (p<0.001). Clinician adherence to dose titration recommendations resulted in significant 25(OH)D level elevations (28.3±8.9 ng/mL versus 24.7±9.0, p=0.047). Conclusions: The prescribing pattern of clinicians significantly changed to reflect vitamin D regimens suggested by CFF guidelines. This finding suggests that had sufficient time been allowed following guideline implementation, a significant difference in 25(OH)D levels would have resulted. Additional research is needed concerning the effect of the guidelines on vitamin D status, clinical outcomes, and comorbidities.
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Golden, Robert Brian. "Frequency of the most common cystic fibrosis mutation in South Carolina." Thesis, Georgia Institute of Technology, 1991. http://hdl.handle.net/1853/25399.
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Correia, Cyntia Arivabeni de Araujo. "Estudo dos genes TNF alfa, ADIPOQ e STATH entre portadores de fibrose cistica." [s.n.], 2009. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308583.
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Orientador: Carmen Silvia BertuzzoTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
Made available in DSpace on 2018-08-13T02:33:23Z (GMT). No. of bitstreams: 1 Correia_CyntiaArivabenideAraujo_D.pdf: 1775265 bytes, checksum: 99ecfece81f00d7833282ae41bae5731 (MD5) Previous issue date: 2009
Resumo: A Fibrose Cística (FC) possui uma grande variabilidade de expressão fenotípica, o que significa que crianças com o mesmo genótipo podem diferir quanto à sua apresentação. A proteína defeituosa formada é chamada CFTR (proteína reguladora da conductância iônica), causa transporte anormal de sódio e cloro através da membrana apical das células epiteliais das vias aéreas, pâncreas, intestino e aparelho reprodutor. Essa proteína é codificada por um único gene que recebe o mesmo nome da proteína, CFTR, e localiza-se no braço longo do cromossomo 7, região 7q3.1. Gêmeos monozigóticos apresentam maior concordância em relação à gravidade da doença pulmonar que os dizigóticos, sugerindo que a FC seja modulada por fatores genéticos secundários - genes modificadores - além do gene CFTR. A característica mais importante na FC é a sobrevida que é influenciada pela doença pulmonar. Portanto, genes que estejam envolvidos na imunidade, inflamação, reparação do epitélio e produção de muco são candidatos a genes modificadores da doença. Os objetivos foram: 1) determinar a prevalência dos polimorfismos -308G/A e -238G/A do gene TNF a entre portadores de FC e verificar existência de associação entre esses polimorfismos e a gravidade do quadro pulmonar, 2) identificar alterações de sequencia nos exons e junções exon/ intron dos genes ADIPOQ e STATH e verificar existência de associação entre possíveis variações nesses genes e a gravidade da FC. Foi realizada PCR seguida por digestão enzimática para o polimorfismo -308G/A do gene TNF a, reação em cadeia da polimerase ARMS para o polimorfismo -238G/A do gene TNF a, e para os genes ADIPOQ e STATH foi feita a triagem de mutações através de cromatografia líquida de alta resolução por desnaturação - DHPLC com posterior sequenciamento da região onde foi encontrada alteração. Foram analisados 49 pacientes com FC em seguimento no Ambulatório de Mucoviscidose do HC/UNICAMP, homozigotos para a mutação F508 ou heterozigotos compostos para mutações de classe I ou II ou homozigotos para mutações de classe II, que são alterações que não levam à formação de proteína funcional. Além disso, foram selecionados indivíduos que apresentem alteração de eletrólitos no suor. Para o polimorfismo -308G/A do gene TNFa os genótipos GG, AA e GA foram encontrados com as seguintes frequencias: 14,28, 67,35 e 18,36% respectivamente. Estes dados se opõem ao relatado na literatura. Tal diferença deve ocorrer pelas características populacionais da população brasileira. Para o polimorfismo -238G/A do gene TNFa, os genótipos GG e AG tiveram as seguintes frequencias: 79,59 e 20,41% respectivamente. O genótipo AA não foi encontrado na amostra analisada. A alta frequencia do genótipo GG comparado com o AA, concorda com a literatura. Não foi encontrada alteração na sequencia dos genes STATH e ADIPOQ. Não foi possível estabelecer uma associação entre a gravidade da FC e os genes TNFa, STATH e ADIPOQ, nas regiões analisadas.
Abstract: Cystic Fibrosis (CF) has a great variety expression, which means that the seriousness of the disease can vary a lot among people who have it. The defective protein, called CFTR (Cystic Fibrosis Transmenbrane Regulator), causes abnormal transportation of chloride and sodium through the apical membrane of the epithelial cells of the airway, liver, intestine and masculine reproductive tract. This protein is encoded by a single gene which has the same name, CFTR, and is located within the long arm of chromosome 7, region 7q3.1. CF is a disease which expressivity is much variable, with different degrees of damage and the age when the symptoms begins is also much variable, even within individuals of the same family, like twins. Because of it, it is been said that others genetic factors besides CFTR, can be modulating the clinical presentation. As the pulmonary state is the great responsible for the mortality of the disease genes that are involved in host defense, inflammation, epithelial repair, mucin production, and airway reponsiveness are of great interest. Base on this the objectives of this work were: determine the prevalence of the polymorphisms -308G/A e -238G/A from the TNF a gene and verify if there is an association between these polymorphisms pulmonary disease severity, and identify alterations on ADIPOQ and STATH genes and verify if there is an association between these polymorphisms and CF severity. PCR followed by restriction enzyme digestion was performed to detect the polymorphism -308G/A from the TNF a gene, ARMS PCR to the polymorphism -238G/A from the TNF a gene the DHPLC method associated to the sequencing to analyze ADIPOQ and STATH genes, were used. We performed analyses of 49 cystic fibrosis patients that are followed in a Cystic Fibrosis center from HC/UNICAMP, that are \F508 homozygous or compound heterozygous to mutations from class I or II, or that are homozygous to class II mutations, which are alterations that do not produce functional protein. Besides this, were selected individuals that have sweat test altered. To the polymorphism 308G/A from TNFa gene the genotypes GG, AA e AG were in the following frequencies: 14,28, 67,35 e 18,36%. This data is contradictory to the literature and may occur because of the racial admixture of the Brazilian population. To the polymorphism -238G/A from TNFa gene, the genotypes GG AG were in the following frequencies 79,59 e 20,41%. The genotype AA was not found in the analyzed group. The high frequency of the genotype GG is in agreement of the data. It was not possible to find any alteration on ADIPOQ and STATH genes. And also it was not possible to make any correlation between the severity of the CF disease and the genes TNFa, STATH and ADIPOQ between the analyzed regions.
Doutorado
Ciencias Biomedicas
Doutor em Ciências Médicas
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Rucker, Bianca M. G. "A sexual profile of adults with cystic fibrosis : the sexuality and sexual concerns of adults with cystic fibrosis." Thesis, University of British Columbia, 1987. http://hdl.handle.net/2429/26909.
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Only in recent years have diagnostic and therapeutic advances lengthened the life expectancy for patients who have cystic fibrosis sufficiently to allow some of them to live into adulthood. Health care professionals have been focusing on survival issues and are only recently beginning to look at quality of life issues, such as sexuality, of these patients. The purpose of the study was to create a sexual profile of adults with cystic fibrosis which would describe their sexuality and sexual concerns.
A questionnaire was developed and sent to all of the adult cystic fibrosis patients (19 years of age and older) in British Columbia (50 patients), all of whom attend the Shaughnessy Hospital Adult CF Clinic in Vancouver. The 62% response rate provided data for the sexual profile which indicated that 90% of the respondents were sexually active. Only a small number of subjects reported sexual difficulties in their relationships. Concerns about the impact of CF on their sexuality included: the effect of the potentially limited lifespan on their relationships, practical considerations such as fatigue and coughing during sexual activity, and poor body image.
A major issue for CF males is that most of them are infertile due to CF. How and when men should be told about this issue was an important question for the CF Clinic staff. Responses indicated that men thought they should find out from either the physician in the pediatric CF clinic or the physician in the adult CF clinic. Furthermore, 100% of the men suggested that this issue be discussed with males before the age of 19 years.
Limitations and recommendations of the research are discussed. A major recommendation is for physicians and other health care professionals in CF clinics to give patients the opportunity to discuss sexual issues.Education, Faculty of
Educational and Counselling Psychology, and Special Education (ECPS), Department of
Graduate
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Oliynyk, Igor. "Advances in Pharmacological Treatment of Cystic Fibrosis." Doctoral thesis, Örebro universitet, Hälsoakademin, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-12424.
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Cystic fibrosis (CF) is an inborn, hereditary disease, due to mutations in the gene for a cAMP-activated chloride (Cl-) channel, the cystic fibrosis transmembrane conductance regulator (CFTR). As a result of impaired ion and water transport,the airway mucus is abnormally viscous, which leads to bacterial colonization.Recurrent infections and inflammation result in obstructive pulmonary disease.Similar changes in the pancreas lead to pancreatic insufficiency.Several compounds have been tested to improve transepithelial ion transport in CF patients, either via activation of the mutant CFTR, or via stimulation of alternative chloride channels. The main purpose of this thesis was to find substances that might correct the defective ion transport in epithelial cells in CFand could be useful for the pharmacological treatment of CF patients. Long-term treatment with the macrolide antibiotic azithromycin (AZM)improved clinical parameters and lung function in CF patients and increased Cl- transport in CF bronchial epithelial cells (CFBE) (Paper I); although mRNA expression of the CFTR gene remained unchanged.In contrast, pre-exposure to the mucolytic antioxidant N-acetylcysteine (NAC) increased CFTR protein expression and was associated with increased Cl- efflux from CFBE cells (Paper II). Clinical trials of this substance might be warranted. Duramycin has been the subject of clinical trials that finished in June2009. Up till now, no results from this study are available. The effect of this substance on Cl- efflux from three CF and three non-CF cell lines (Paper III) was disappointing. An effect was found only in CFBE cells, the effect was minimal, occurred in a narrow concentration range, and was not associated with an increase in the intracellular calcium concentration [Ca2+]i. The fact that NO-donors stimulated Cl- efflux from CFBE cells (but did notchange [Ca2+]i) after several hours of preincubation suggests that these substances may be a potentially interesting group of compounds for the treatment of CF (Paper IV). A model for the effect of NO-donors on Cl- efflux is presented.Cystisk fibros (CF) är en medfödd, ärftlig, sjukdom, som förorsakas av en mutation i en gen som innehåller koden för en kloridkanal som aktiveras av cykliskt AMP (cystic fibrosis transmembrane conductance regulator, CFTR). Som en följd av otillräcklig transport av joner och vatten är slemmet i luftvägarna onormalt segt, vilket leder till att det koloniseras av bakterier. Upprepade infektioneroch inflammation av luftvägarna leder slutligen till obstruktiv lungsjukdom.Liknande förändringar i bukspottkörteln leder till att också detta organ inte fungerar. Flera kemiska ämnen har testats för sin förmåga att förbättra jontransporten över epitelet hos CF-patienter. Detta skulle kunna göras antingen genom aktivering av det muterade CFTR-proteinet, eller genom stimulering av alternativa kloridkanaler. Huvudsyftet med den forskning som beskrivs i denna avhandling var att hitta kemiska substanser som skulle kunna korrigera den defekta jontransporten i epitelceller hos CF-patienter, och därför vara nyttiga för behandlingen av patienterna. Behandling under längre tid med azithromycin (AZM), ett makrolidantibiotikum,förbättrade CF-patienternas kliniska status och lungfunktion,samt ökade kloridutflödet från CF bronkialepitelceller (CFBE-celler) (Arbete I).Däremot ändrades inte uttrycket av mRNA för CFTR-genen. I kontrast till detta ökade uttrycket av CFTR-proteinet om CFBE-cellerna utsattes för den slemlösande anti-oxidanten N-acetylcystein (NAC), vilket ledde till ökat kloridutflöde från denna cellinje (Arbete II). Det vore rimligt att utföra kliniska prövningar av detta ämne. Duramycin har testats i kliniska prov som slutade i juni 2009, men några resultatfrån dessa prov har inte offentliggjorts än. Effekten av detta ämne på kloridutflödet från tre CF-cellinjer och tre icke-CF cellinjer (Arbete III) var en besvikelse. Duramycin hade endast effekt på CFBE-celler, effekten var mycket liten, förekom endast i ett litet koncentrationsområde av duramycin, och var inte kopplad till en ökning av den intracellulära kalciumkoncentrationen [Ca2+]i. Att ämnen som avger kväveoxid (NO) stimulerade kloridutflödet från CFceller (men inte påverkade [Ca2+]i) efter några timmar, visar att denna grupp av ämnen kan vara potentiellt intressant för behandlingen av CF (arbete IV). En modell för effekten av NO på kloridtransporten i CF-celler presenteras.
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Simourd, Daryl W. "Cystic fibrosis, issues from the sibling perspective." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ38612.pdf.
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Thompson, Geoffrey N. "The role of taurine in cystic fibrosis /." Title page, contents and abstract only, 1986. http://web4.library.adelaide.edu.au/theses/09MD/09mdt471.pdf.
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Chadwick, Sharon Lorna. "Development of new treatments for cystic fibrosis." Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.395759.
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Hilliard, Thomas Norman. "Airway inflammation and remodelling in cystic fibrosis." Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.427686.
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McSorley, Anita D. "Renal stones in adults with cystic fibrosis." Thesis, University of Manchester, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.509862.
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