Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...

Hemophagocytosis represents the peculiar pathological feature of activated macrophages engulfing hematopoietic cells as a result of an immune dysregulatory disorder. This finding is the hallmark of a rare hyperinflammatory disease known as hemo phagocytic ly mphohistiocytosis (HLH). HLH is a severe condition characterized by an abnormal ineffective immune response caused by an uncontrolled acti...

We generalize Llarull’s scalar curvature comparison to Riemannian manifolds admitting metric connections with parallel and alternating torsion and having a nonnegative curvature operator on ΛTM . As a byproduct, we show that Euler number and signature of such manifolds are determined by their global holonomy representation. Our result holds in particular for all quotients of compact Lie groups ...

We demonstrate two game theory-based programs for headsup limit and no-limit Texas Hold’em poker. The first player, GS3, is designed for playing limit Texas Hold’em, in which all bets are a fixed amount. The second player, Tartanian, is designed for the no-limit variant of the game, in which the amount bet can be any amount up to the number of chips the player has. Both GS3 and Tartanian are ba...

Human skin color is predominantly determined by melanin produced in melanosomes within melanocytes and subsequently distributed to keratinocytes. There are many studies that have proposed mechanisms underlying ethnic skin color variations, whereas the processes involved from melanin synthesis in melanocytes to the transfer of melanosomes to keratinocytes are common among humans. Apart from the ...

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with sp...

BACKGROUND Hemophagocytic lymphohistiocytosis is a life-threatening disease. Hematopoietic stem cell transplantation still represents the treatment of choice for most patients with this disease. DESIGN AND METHODS We retrospectively analyzed 61 patients with hemophagocytic lymphohistiocytosis who underwent HSCT over a 17-year period at nine centers affiliated to the Italian Pediatric Hematolo...

A spontaneous neurological mutation, dilute-opisthotonus (dop), was discovered in our breeding colony of Wistar rats. We found that the mutation affected the gene encoding Myosin Va (MyoVA), an actin-based molecular motor. Analysis of the myosin Va (Myo5a) gene of the dop genome showed the presence of a complex rearrangement consisting of a 306-bp inversion associated with 217-bp and 17-bp dele...