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...

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predispose...

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in humans; IP develops primarily in types 1 and 4. Most reported cases of HPS with IP are type 1, and the...

Although humans show a vast range of skin colors, our relative lack of hair prevents us from showing the full repertoire of pigment variation shared by most mammals (1). Nonetheless, we carry these genes and when their function affects more than pigment synthesis, hypomorphs may cause disease more complex than oculocutaneous albinism. These diseases sometimes have homologies in other species an...

The paper argues against blind implementing of scattered accidental knowledge which may be irrelevant to a speech recognition task and advance the notion that the reason for applying knowledge of human auditory perception in engineering applications should be the ability of perception to suppress some parts of information in the speech message. In general, it advocates selective use of auditory...