Dissertations / Theses on the topic 'Cystic fibrosis'
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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/.
Full textKahre, Tiina. "Cystic fibrosis in Estonia /." Online version, 2004. http://dspace.utlib.ee/dspace/bitstream/10062/577/5/KahrePhD.pdf.
Full textDwyer, Tiffany Jane. "Exercise in cystic fibrosis." Thesis, The University of Sydney, 2010. http://hdl.handle.net/2123/6349.
Full textDwyer, Tiffany Jane. "Exercise in cystic fibrosis." Discipline of Physiotherapy, Faculty of Health Sciences, University of Sydney, 2010. http://hdl.handle.net/2123/6349.
Full textExercise 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.
Utley, Courtney, and Kristen L. McHenry. "Advances in Cystic Fibrosis." Digital Commons @ East Tennessee State University, 2016. https://dc.etsu.edu/etsu-works/2546.
Full textDobson, Lee. "Glucose tolerance in cystic fibrosis." Thesis, University of Exeter, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403679.
Full textHurley, Matthew. "Lung infection in cystic fibrosis." Thesis, University of Nottingham, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.716679.
Full textDowney, D. G. "Airways inflammation in cystic fibrosis." Thesis, Queen's University Belfast, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269047.
Full textEvans, Katharine Sarah Emily. "Cystic Fibrosis and the eye." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/54848/.
Full textWright, Adam. "The macrophage in cystic fibrosis." Thesis, University of Leicester, 2007. http://hdl.handle.net/2381/8783.
Full textRao, Satish Ramakrishna. "Blood monocytes in cystic fibrosis." Thesis, University of Leicester, 2009. http://hdl.handle.net/2381/7345.
Full textO'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.
Full textMcCloskey, Margaret. "Energy balance in cystic fibrosis." Thesis, Queen's University Belfast, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287209.
Full textSmith, David L. "Nocturnal hypoxaemia in cystic fibrosis." Thesis, University of Southampton, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296267.
Full textHiscox, Rachel Joy. "The retina in cystic fibrosis." Thesis, Cardiff University, 2013. http://orca.cf.ac.uk/59738/.
Full textMcIlwaine, Patricia Margaret. "Airway clearance in cystic fibrosis." Thesis, Ulster University, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.625501.
Full textWard, 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.
Full textVitko, 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.
Full textBizzell, Laurie. "Maternal Stress and Cystic Fibrosis." Thesis, University of North Texas, 1996. https://digital.library.unt.edu/ark:/67531/metadc278693/.
Full textPutman, Melissa. "Cystic Fibrosis Related Bone Disease." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17613728.
Full textDurham, 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/.
Full textEnes, 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.
Full textDissertação (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
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.
Full textAndersson, 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.
Full textS-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.
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.
Full textGovan, John R. W. "Pseudomonas, alginate biosynthesis and cystic fibrosis." Thesis, University of Edinburgh, 1994. http://hdl.handle.net/1842/28137.
Full textHill, 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.
Full textGuilbault, 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.
Full textSeveral 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.
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.
Full textHull, James H. K. "Large artery haemodynamics in cystic fibrosis." Thesis, Kingston University, 2010. http://eprints.kingston.ac.uk/20343/.
Full textBehrends, Volker. "Metabolic profiling of cystic fibrosis pathogens." Thesis, Imperial College London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511871.
Full textTrainor, 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.
Full textO'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.
Full textHayward, Caroline Irma. "Biochemical studies of cystic fibrosis antigen." Thesis, University of Edinburgh, 1987. http://hdl.handle.net/1842/18950.
Full textChoudhury, Maitrayee. "Complications in cystic fibrosis-related diabetes." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/100648/.
Full textRymut, 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.
Full textMcHugh, 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.
Full textMiedzybrodzka, 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.
Full textHelm, 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.
Full textSullivan, Kayleigh. "New treatment options for cystic fibrosis." Thesis, Boston University, 2013. https://hdl.handle.net/2144/12234.
Full textCystic 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.
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.
Full textObjectives: 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.
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.
Full textCorreia, 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.
Full textTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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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
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.
Full textEducation, Faculty of
Educational and Counselling Psychology, and Special Education (ECPS), Department of
Graduate
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.
Full textCystisk 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.
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.
Full textThompson, 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.
Full textChadwick, 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.
Full textHilliard, 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.
Full textMcSorley, 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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