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Defining the Pulmonary Disease and Disability from Lung Dysfunction in Cutis Laxa

Mac Neal, Meghan Kelly (2012) Defining the Pulmonary Disease and Disability from Lung Dysfunction in Cutis Laxa. Master's Thesis, University of Pittsburgh. (Unpublished)

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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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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Mac Neal, Meghan
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairUrban, Zsolturbanz@pitt.eduURBANZ
Committee MemberGrubs, Robin Ergrubs@pitt.eduRGRUBS
Committee MemberWilson, Johnjww@pitt.eduJWW
Committee MemberMcConnell,
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

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  • Defining the Pulmonary Disease and Disability from Lung Dysfunction in Cutis Laxa. (deposited 21 Sep 2012 15:26) [Currently Displayed]


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