Parkinson Disease: Parkinson K

McGuckin J, Parkinson K. · Vascular Access Centers, Philadelphia Vascular Institute, Philadelphia, PA, USA. · Tech Vasc Interv Radiol. · Pubmed #19100949 No free full text.

Abstract: Minimally-invasive medicine has continually progressed from its beginning in the 1960's. Evolution of technology and techniques have led to treatment of new disease states in minimally-invasive therapies. Now the venue of those therapies is shifting outpatient procedures from the hospital and into outpatient centers.

Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC, Leslie K. · Department of Pathology, University of Manitoba, Winnipeg, Canada. · Respiration. · Pubmed #16490934 No free full text.

Abstract: Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.