Mac Neal, Meghan Kelly
(2012)
Defining the Pulmonary Disease and Disability from Lung Dysfunction in Cutis Laxa.
Master's Thesis, University of Pittsburgh.
(Unpublished)
This is the latest version of this item.
Abstract
Cutis laxa is a heterogeneous group of disorders characterized by loose, lax, and inelastic skin. Other complications include lung, cardiovascular, musculoskeletal, gastrointestinal, and genitourinary disease. Cutis laxa (CL) can be congenital or acquired, with the congenital forms resulting from mutations in numerous genes. Chronic obstructive pulmonary disease (COPD) is a major contributor to morbidity and mortality in CL, making it a subject of public health importance. This purpose of this analysis is to determine quantitative differences between CL onset, congenital and acquired, and CL diagnosis, CL versus CL carrier in regard to pulmonary function and disability that results from lung dysfunction. An odds ratio determined that the cutis population has an increased risk for COPD and t-test analysis determined that COPD severity was the same between congenital and acquired subjects, but significantly different between CL and CL carriers. Multiple people with a previous asthma diagnosis were determined to actually have COPD. Additionally, the SGRQ total score was found to be highly correlated with FEV1/FVC and CT visual emphysema score. Further studies are warranted to more clearly determine genotype-phenotype correlations and assess longitudinal changes.
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Details
Item Type: |
University of Pittsburgh ETD
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Status: |
Unpublished |
Creators/Authors: |
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ETD Committee: |
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Date: |
21 September 2012 |
Date Type: |
Publication |
Defense Date: |
18 July 2012 |
Approval Date: |
21 September 2012 |
Submission Date: |
24 July 2012 |
Access Restriction: |
5 year -- Restrict access to University of Pittsburgh for a period of 5 years. |
Number of Pages: |
78 |
Institution: |
University of Pittsburgh |
Schools and Programs: |
School of Public Health > Genetic Counseling |
Degree: |
MS - Master of Science |
Thesis Type: |
Master's Thesis |
Refereed: |
Yes |
Uncontrolled Keywords: |
Cutis Laxa, Chronic Obstructive Pulmonary Disease, Genetic Studies |
Date Deposited: |
21 Sep 2012 15:26 |
Last Modified: |
21 Sep 2017 05:15 |
URI: |
http://d-scholarship.pitt.edu/id/eprint/13220 |
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Defining the Pulmonary Disease and Disability from Lung Dysfunction in Cutis Laxa. (deposited 21 Sep 2012 15:26)
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