The aristaless (Arx) gene: one gene for many "interneuronopathies".

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…

Prospero hierae (Hyacinthaceae), a New Species from Marettimo Island (Sicily)

A new species, Prospero hierae C. Brullo, S. Brullo, Giusso, Pavone & Salmeri (Hyacinthaceae), from Island of Marettimo (Egadi Archipelago, Sicily) is described and illustrated. Its chromosome number (2n = 14), leaf anatomy and ecology are examined. This small species with glaucous, adaxially flat leaves is closely related with the taxa belonging to the Prospero autumnale group and, in particular, it shows more affinities with P. corsicum, P. pulchellum and P. minimum.

First-principles study of elastic and thermal properties of scheelite-type molybdates and tungstates

Abstract First-principles calculations are carried out to study the physical properties of scheelite-type AMoO4 molybdates and AWO4 tungstates (A = Ca, Sr, Ba, and Pb). We consider two flavors for the exchange-correlation functional, the local-density approximation (LDA) and the generalized gradient approximation (GGA). The second-order elastic constants were determined, and we found that c11 is larger than c33 for the eight investigated compounds. This fact is consistent with the well-known anisotropic compressibility of scheelite-type molybdates and tungstates. The calculated elastic constants are used to determine macroscopic properties which are relevant for applications, such as the bu…

Analisi micromorfologiche sui semi di alcune specie annuali di Astragalus (Fabaceae) e loro implicazioni nella sistematica del gruppo.

Il lavoro analizza i risultati di indagini micromorfologiche su taxa annuali del genere Astragalus. Le analisi morfometriche e quelle ultrastrutturali condotte al SEM evidenziano modelli d'architettura differenti e di rilevanza tassonomica nel gruppo.

La conservazione delle specie di interesse forestale nella Banca del germoplasma dell’Orto Botanico di Catania.

Seed morphology and seed coat structure in Mediterranean plants: implication for evolution, taxonomy and germinative performance.

A better understanding of morphological, ultra-structural and anatomical seed coat characteristics can contribute to explain and predict seed performance under certain environmental conditions and select the most suitable treatments promoting seed germination. The Seed Banks at the Botanic Gardens of Catania and Palermo (Sicily) are particularly involved in research studies aimed to detect and describe macro- and micro-morphological features of seeds from different plant families and genera, using both light and scanning electron microscopy. These studies mainly aim to 1) recognize and compare inter- and intra-specific variation of seed coat traits, with particular attention on rare and thr…

Multivariate karyomorphometric analysis and taxonomic implications in Allium sect. Cupanioscordum (Amaryllidaceae)

Significant karyological variation occurs amongst different taxa/populations in the A. cupani group. The ancestral diploid chromosome complement is 2n = 16 (x = 8), but populations of A. cupani s.l. also exhibit dysploidy (2n = 14), polyploidy (2n = 4x = 32, 2n = 4x = 30). These different chromosome assets are associated to specific diagnostic morphological characters and well-defined eco-geographical patterns, which cluster different taxa and populations in 5 series (Brullo&al. 1995, 2008). In order to test the impact of inter-and intra-specific variation in chromosome structure on the systematic treatment of the A. cupani group and its contribution to allow comparing and understanding aff…

Economic Consequences of Investing in Anti-HCV Antiviral Treatment from the Italian NHS Perspective: A Real-World-Based Analysis of PITER Data

OBJECTIVE:\ud We estimated the cost consequence of Italian National Health System (NHS) investment in direct-acting antiviral (DAA) therapy according to hepatitis C virus (HCV) treatment access policies in Italy.\ud \ud METHODS:\ud A multistate, 20-year time horizon Markov model of HCV liver disease progression was developed. Fibrosis stage, age and genotype distributions were derived from the Italian Platform for the Study of Viral Hepatitis Therapies (PITER) cohort. The treatment efficacy, disease progression probabilities and direct costs in each health state were obtained from the literature. The break-even point in time (BPT) was defined as the period of time required for the cumulativ…