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Bragging about one of our own


Many of you may know Yeidyly from the conference. She's on the board of directors in Puerto Rico. Below's text was on the Website of the Public Health Association. Yeidyly had a poster about HPS accepted. Go girl!



Yeidyly Vergne , MPH, DrPHc , Public Health Program, Ponce School of Medicine, Ponce, PR Ivan Iriarte, MD, MS , Public Health Program, Ponce School of Medicine, Ponce, PR


Hermansky-Pudlak Syndrome (HPS) is a congenital genetic metabolic disorder affecting cell membranes, lissomness, melanosomes and dense bodies of the platelets. HPS is characterized by albinism, bleeding diathesis, granulomatous colitis and pulmonary fibrosis. Puerto Rico (P.R.) is known as the “World's Capital of Albinism” because HPS is more than two times as frequent as in Africa, and about 10 times more frequent than in the continental U.S. This study describes and compares the clinical and epidemiological characteristics of HPS between P.R. and continental U.S. by means of a cross-sectional study. Phenotypic and molecular (genetic map) diagnosis, and symptomatology were included in the analysis for HPS1 and HPS3 that are the most frequent subtypes in P.R. The variables included were: demographics, geographic area of residence, HPS molecular type, HPS phenotype, hemorrhagic symptoms, granulomatous colitis, pulmonary fibrosis and visual acuity. A total of 198 medical charts and interviews were conducted out of 350 reported cases in P.R. Among other findings: HPS pulmonary fibrosis was found in individuals with HPS1, HPS2, and HPS4 subtypes in the continental U.S. but, in P.R., is largely found in HPS1. HPS is more frequently found in males in the U.S. but no gender differences, and a lower prevalence of colitis was found in P.R. The frequencies of Ty+ and pulmonary fibrosis were slightly lower in P.R. These findings may indicate that the genetics may be different in P.R., and must be taking into consideration for the proper diagnosis and management of patients in P.R.
Learning Areas:Basic medical science applied in public health
Chronic disease management and prevention
Clinical medicine applied in public health
Epidemiology

Learning Objectives:
1. Describe the Hermsnky-Pudlak Syndrome (HPS). 2. Recognize the main symptoms of HPS. 3. List the different sub-types of HPS and their characteristics. 4. Describe the HPS clinical and epidemiological similarities and differences between Puerto Rico and the continental U.S. and the significance of these findings.
Presenting author's disclosure statement:
Qualified on the content I am responsible for because: I have a MPH and finishing coursework of a Dr.P.H. in Epidemiology. I am familiar with the topic because I am a patient with this condition and have been working on this and other related research for the last four years.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.




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