Lysosomal protein trafficking is a fundamental process conserved from yeast to humans. This conservation extends to lysosome-like organelles such as mammalian melanosomes and insect eye pigment granules. Recently, eye and coat color mutations in mouse (mocha and pearl) and Drosophila (garnet and carmine) were shown to affect subunits of the heterotetrameric adaptor protein complex AP-3 involved...

Introduction Treatment effects may be significantly underestimated by analyses restricted to the relatively brief intervention phase of a randomised trial, and effects on cancer may only emerge during prolonged follow-up. In HPS, posttrial follow-up for non-fatal events was largely achieved via annual postal questionnaires, and the methods used may help inform the design of subsequent similar s...

INTRODUCTION Oculocutaneous albinism (OCA) in combination with a platelet function defect caused by a disturbed release reaction from platelet δ-granules (storage pool defect - SPD) is typical for the autosomal recessive inherited Hermansky-Pudlak syndrome (HPS). CASE REPORT A girl (age: 13 years) with OCA was hospitalized with transfusion-requiring menorrhagia. The suspicion of HPS was confi...

IMPORTANCE Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pulmonary fibrosis and granulomatous colitis. The granulomatous inflammation in the bowel of patients with HPS can be indistinguishable clinically and histologically from that of Crohn disease (CD); however, mucocutaneous granulomatous lesions...

BACKGROUND AND OBJECTIVES Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among patients with mild to moderate bleeding diatheses. However, the molecular basis of this disorder is unknown. Genes involved in other rare bleeding disorders with associated reduction in the numbers of platelet dense-granules may play a role in isolated PDG deficiency. Am...

OBJECTIVE To determine the impact of a single, 3-day intervention on empathy levels as measured by the validated Jefferson Scale of Empathy-Health Profession Students version (JSE-HPS). METHODS Forty second-year student pharmacists were recruited to participate in a non-blinded prospective study. Subjects were randomized to an intervention group (n=20) or control group (n=20) and completed th...