Browsing by Author "Thornburg, Courtney D"
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Item Open Access Report of a young girl with MYH9 mutation and review of the literature.(Journal of pediatric hematology/oncology, 2012-10) Landi, Daniel; Lockhart, Evelyn; Miller, Sara E; Datto, Michael; Rehder, Catherine; Kanaly, Angela; Thornburg, Courtney DMYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient's clinical presentation, now with 12 years of follow-up. We also discuss management and her possible prognosis given her specific MYH9 mutation.Item Open Access Travelers with sickle cell disease.(J Travel Med, 2014-09) Willen, Shaina M; Thornburg, Courtney D; Lantos, Paul MBACKGROUND: Sickle cell disease (SCD) is the most common genetic disease among persons with African ancestry. This article provides a background to SCD and reviews many important aspects of travel preparation in this population. METHODS: The medical literature was searched for studies on travel-associated preparedness and complications in individuals with SCD. Topics researched included malaria, bacterial infections, vaccinations, dehydration, altitude, air travel, and travel preparedness. RESULTS: There is very little published literature that specifically addresses the risks faced by travelers with SCD. Rates of medical complications during travel appear to be high. There is a body of literature that describes complications of SCD in indigenous populations, particularly within Africa. The generalizability of these data to a traveler is uncertain. Combining these sources of data and the broader medical literature, we address major travel-related questions that may face a provider preparing an individual with SCD for safe travel. CONCLUSIONS: Travelers with SCD face considerable medical risks when traveling to developing tropical countries, including malaria, bacterial infections, hypovolemia, and sickle cell-associated vaso-occlusive crises. For individuals with SCD, frank counseling about the risks, vigilant preventative measures, and contingency planning for illness while abroad are necessary aspects of the pre-travel visit.