The Clinical-Translational Seminar Series - Dr. Jose Bufill-

(Left) Jose A. Bufill, M.D., F.A.C.P. Director, Cancer Genetics Program, St. Joseph Regional Medical Center, South Bend. Clinical Investigator, Northern Indiana Cancer Research Consortium. Private practice in Hematology-Oncology, Elkhart & South Bend, In.

September 21, 2012 - Dr. Jose Bufill's contribution to the CRND Clinical-Translational Semininar Series, "Preliminary observations using N-acetylcysteine for refractory TTP: An opportunity for new management strategies?" engaged both students and faculty in an exciting translational discovery underway in their own community. Dr. Bufill has been treating a patient in South Bend with refractory, relapsing thrombotic thrombocytopenic purpura (TTP), a rare disorder of the blood-coagulation system. Using N-acetylcysteine (NAC), Dr. Bufill has observed noteworthy temporary therapeutic benefits without significant side effects.

Dr. Bufill's presentation described the pathophysiology of TTP, a serious and life-threatening disorder caused by dysfunction of the normal metabolism of the Von Willibrand factor (VWF). According to the National Heart, Lung, and Blood Institute: "In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop." (To read more from the NHLBI website).

TTP may be either a congenital or inherited condition and is prone to relapse since the standard therapy of plasma exchange does not remedy the underlying cause. Recently, N-acetylcysteine (NAC) has shown promise in animal models. Dr. Bufill discussed further laboratory and clinical studies projected for NAC related compounds and their potential benefits for patients with this rare disorder.




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