Saudi Cultural Missions Theses & Dissertations
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Item Restricted Characteristics and Outcomes of Chronic Bronchitis in Alpha-1 Antitrypsin Deficiency Related Lung Disease: A Retrospective Longitudinal Analysis(Saudi Digital Library, 2023-10) Alsaab, Sulaiman; Turner, Alice; Ellis, PaulAbstract Background: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated with lung disease such as early-onset emphysema and chronic obstructive pulmonary disease (COPD). The presence of chronic bronchitis may accelerate disease progression in AATD patients, but few studies have specifically examined this phenotype. Objectives: To investigate the characteristics and outcomes such as FEV1 decline, DLCO decline, exacerbations frequency, and mortality of AATD patients with chronic bronchitis compared to those without chronic bronchitis. Methods: This retrospective cohort analysis utilised clinical data from the REDcap registry for 236 PiZZ and PiSZ AATD patients. Participants were categorised based on chronic bronchitis diagnosis and genotypes. Characteristics were compared between groups. Multiple linear regression analysis, logistic regression analysis, mixed linear model, and survival analysis are done to investigate outcomes including lung function decline, exacerbation frequency, and mortality among those patients. Results: Patients with chronic bronchitis (35% of the cohort) demonstrated significantly worse baseline lung function. FEV1 decline was steeper in PiZZ chronic bronchitis patients (-1.61% predicted/year, - 52 ml/year) versus PiZZ without chronic bronchitis (-1.07% predicted/year, - 31.5 ml/year). In the PiSZ genotype, the chronic bronchitis group similarly showed accelerated decline (-1.85% predicted/year, - 64 ml/year) versus the PiSZ without chronic bronchitis (-0.67% predicted/year, - 21 ml/year). Female sex was associated with higher odds of frequent exacerbations in both PiZZ and PiSZ individuals. There was no significance in terms of mortality between the groups. Conclusion: Chronic bronchitis in AATD is associated with impaired lung function and worse clinical outcomes compared to AATD alone. This high-risk phenotype warrants additional research into tailored interventions and closer monitoring. Larger longitudinal studies are needed to confirm the results and elucidate underlying mechanisms.19 0Item Restricted Exercise and quality of life in patients with alpha-1 antitrypsin deficiency(Saudi Digital Library, 2023-12-04) Alshahrani, Mohammed; Pye, Anita; Turner, AliceIntroduction Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that affects the production of a protein called alpha-1 antitrypsin. This protein helps to protect the lungs from damage. People with AATD are at increased risk of developing lung and liver diseases. This dissertation explores the effectiveness of exercise on the quality of life in AATD patients. Physical activity is known to have many health benefits, including improving lung function, and reducing the risk of chronic diseases. However, it is not clear whether physical activity is beneficial for people with AATD. The main aim of this study is to examine the relationship between exercise and quality of life in AATD patients who lead physically active or sedentary lifestyles. Methods This cross-sectional study examined the associations between physical activity, quality of life, and well-being in 64 participants with AATD. Utilising a customised questionnaire, activity levels and perspectives were evaluated. More clinical information was extracted from the AATD registry. Results There were 64 participants whose ages and lung function varied considerably. Perspectives on physical activity varied; some were physically active while others were sedentary. The impact of AATD on activity capacity varied among participants. The majority of respondents reported that physical activity improves Quality of life (QOL) and emotional health, but some described barriers. Diverse forms of exercise were preferable. Patients who engaged in more physical activity reported improved quality of life, including less shortness of breath, fatigue, and anxiety, according to the results. In addition, they reported having higher levels of energy and generally feeling better. Positive correlations were observed between physical activity, QOL, and emotional well-being. Conclusion These findings suggest that physical activity would be a beneficial intervention for AATD patients. in addition, this dissertation highlights the importance of incorporating exercise as an integral component of holistic health management for individuals with AATD, showcasing its potential to improve various dimensions of quality of life, both physically and emotionally. However, more research is needed to confirm these findings and to determine the optimal amount and type of physical activity for AATD patients with larger sample size.15 0