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A Connection Between Primary Lymphedema And Cystic Hygromas?

Carpenter, Joshua (2015) A Connection Between Primary Lymphedema And Cystic Hygromas? Master's Thesis, University of Pittsburgh. (Unpublished)

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The lymphatic system is a network of organs and vessels that serve different purposes including the filtering of blood and the initiation of an immune response to an infection. Lymphedema is the swelling of the arm(s) and/or leg(s) from removal, damage, or blockage of the lymphatic system. Lymphedema can occur as a secondary condition caused by another disease or condition, but lymphedema can also be inherited. Cystic hygroma is a collection of lymphatic fluid at the back of the neck that may be observed during a prenatal ultrasound exam and then disappear on its own, although sometimes it is still present at birth. Some evidence suggests that one cause of cystic hygroma is inherited lymphedema. Inherited lymphedema and cystic hygromas are findings that may require treatment and follow-up. If an association exists between cystic hygromas and inherited lymphedema, then establishing this connection can help predict prognosis and provide appropriate care at both the individual level and the population level for public health significance.
An introduction letter and cystic hygroma questionnaire were sent out to the participants of the University of Pittsburgh’s Lymphedema Family Study who have voluntarily provided their own biological samples previously (1,628 people). The questionnaire was completely voluntary and was either mailed or faxed back when completed. It inquired about lymphedema, cystic hygromas, and prognosis. It also inquired about other biological family members including babies that did not survive to birth. Follow-up phone calls were made to some families for clarification.
Results show that 316 (19.4%) research participants have completed and returned the questionnaire, 2.44% of those that returned the questionnaire and have lymphedema also had cystic hygromas, and 0.57% of those without lymphedema that returned the questionnaire had cystic hygromas. This difference in cystic hygroma prevalence is not statistically significant (p = 0.3094). However, there is some enough evidence to support the claim that there is a higher prevalence of cystic hygromas in those with lymphedema compared to the general population (18.3-fold difference). It is possible that the number of individuals diagnosed with cystic hygromas is underreported because prenatal ultrasounds were not available for many participants.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Carpenter, Joshuajmc256@pitt.eduJMC256
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorFerrell, Robertrferrell@pitt.eduRFERRELL
Committee MemberFinegold, Daviddnf@pitt.eduDNF
Committee MemberShaffer, Johnjrs51@pitt.eduJRS51
Committee MemberLevine,
Date: 29 June 2015
Date Type: Publication
Defense Date: 13 April 2015
Approval Date: 29 June 2015
Submission Date: 23 April 2015
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 51
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: Lymphedema, Cystic Hygroma
Date Deposited: 29 Jun 2015 13:53
Last Modified: 15 Nov 2016 14:27


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