Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS-8 consanguineous families with different homozygous pathogenic variants in BLOC1S3 (NM_212550.3), one of which is novel. These comprise two deletions leading to a reading frameshift (c.385_403del, c.338_341del) and one in frame deletion (c.444_467del). All patients have moderate oculocutaneous albinism and bleeding diathesis, but other HPS symptoms are not described. One patient diagnosed with HPS-8 suffered from lymphocyte-predominant Hodgkin lymphoma. The mild severity of HPS-8 is consistent with other HPS forms caused by variants in BLOC-1 complex coding genes (HPS-7, DTNBP1; HPS-9, BLOC1S6, HPS-11, BLOC1S5).

Measuring Attitudes About End-of-Life Care: Evaluation of a Modified Version of the Hospice Philosophy Scale.

The Hospice Philosophy Scale (HPS) is the only scaled instrument that measures health professionals' attitudes about end-of-life care consistent with the hospice philosophy. This study tested the properties of a modified version of the HPS to provide preliminary validation data on internal consistency, convergent validity, and factorability in a broad population of adults. A cross-sectional telephone survey designed to assess the general population's attitudes regarding hospice use was administered. exploratory factor analysis elicited an eight-item instrument (HPS-8). The HPS-8 produced a Cronbach's alpha of .73 and demonstrated sufficient convergent validity, including positive associations with a scale measuring the importance of relevant end-of-life issues (r = .41, p < .001), a personal preference for hospice (ρ = .36, p < .001), and, among those who had experienced hospice care, satisfaction with hospice care (ρ = .28, p < .01). Our evidence suggests the HPS-8 is a reliable and valid instrument for use with a general adult population.