Search results for "Gb3"
showing 10 items of 24 documents
VALUTAZIONE DI ALCUNI BIOMARKERS DI STRESS OSSIDATIVO E DELLA FREQUENZA DEGLI APLOGRUPPI MITOCONDRIALI IN UNA POPOLAZIONE DI PAZIENTI CON MALATTIA DI…
2023
La malattia di Fabry comprende una estrema varietà fenotipica in relazione con il grande numero di organi e sistemi coinvolti. La diagnosi di malattia di Fabry è complessa a causa del numero di organi/sistemi coinvolti e dei fenotipi clinici non specifici e della sua rarità. La progressione clinica della malattia si manifesta tra i 30-40 anni quando per i numerosi organi coinvolti compaiono manifestazioni cliniche quali insufficienza cardiaca, renale ed eventi cerebrovascolari. La morte di solito sopraggiunge durante la quarta/quinta decade di vita ed è secondaria all’interessamento cardiaco, renale o cerebrale anche se l’avvento della dialisi e della terapia enzimatica sostitutiva stanno s…
High Variability of Fabry Disease Manifestations in an Extended Italian Family
2015
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolaseα-galactosidase A (α-GAL). The impairment ofα-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male pati…
Zooplankton biodiversity and community structure vary along spatiotemporal environmental gradients in restored peridunal ponds
2015
<p>Zooplankton assemblages in neighboring ponds can show important spatial and temporal heterogeneity. Disentangling the influence of regional versus local factors, and of deterministic versus stochastic processes has been recently highlighted in the context of the metacommunity theory. In this study, we determined patterns of temporal and spatial variation in zooplankton diversity along one hydrological year in restored ponds of different hydroperiod and age. The following hypotheses regarding the assembling of species over time were tested: i) dispersal is not limited in our study system due to its small area and high exposure to dispersal vectors; ii) community dissimilarity among …
From local measures to regional impacts: Modelling changes in nutrient loads to the Baltic Sea
2021
Study Region: Our study region is the Baltic Sea Drainage Basin (BSDB), which covers an area of 1.8 Mio km2 distributed over 14 countries in northern Europe. Study Focus: We use a large-scale hydrological and nutrient transport model (E-HYPE) to model basin-wide impacts of measure scenarios on the Baltic Sea, where eutrophication is a critical issue for the marine ecosystem. We constructed measure scenarios based on stakeholder acceptance, established in workshops in different regions around the Baltic. These measures include local stream reach to catchment scale measures aiming to reduce nutrient transport into the stream network (buffer strips, stormwater ponds) and measures aiming to red…
First record and morphological features of Hemidiaptomus (Occidodiaptomus) ingens (Gurney, 1909) (Copepoda Calanoida) in Italy
2004
During a survey, carried out to assess the consistency of microcrustacean fauna inhabiting temporary ponds in Sicily, Hemidiaptomus (Occidodiaptomus) ingens (Gurney, 1909), a large calanoid copepod up to now known only for North-African ponds, Camargue and Corse, was found in the north-western part of the island. Due to its central location in the Mediterranean Sea, Sicily represents a transition zone where several chorological zones of the West Palearctic merge and converge. A brief summary of the existing literature regarding this taxon is given with some morphological considerations on the recently found population which represents the first record for Italy. In particular, the morpholog…
First record of a representative of the subfamily Paradiaptominae (Copepoda Calanoida Diaptomidae) in Italy: Metadiaptomus chevreuxi (Guerne & Richar…
2005
Metadiaptomus chevreuxi (Guerne & Richard 1894), a diaptomid calanoid copepod belonging to the subfamily Paradiaptominae, has been found in two neighbouring temporary pools in the Egadi Archipelago (Sicily, southern Italy). This finding constitutes the first record of a representative of this subfamily in Italy and the second known European record for this species. M. chevreuxi, commonly found in the arid areas of Maghreb, has already been reported to occur in Mallorca Island (Balearic Archipelago, Spain), while it seems to be rare in the eastern quadrants of the Mediterranean basin. The characteristics of the new Italian site are briefly described and drawings of morphological details …
A practical methodology to perform global sensitivity analysis for 2D hydrodynamic computationally intensive simulations
2021
Sensitivity analysis is a commonly used technique in hydrological modeling for different purposes, including identifying the influential parameters and ranking them. This paper proposes a simplified sensitivity analysis approach by applying the Taguchi design and the ANOVA technique to 2D hydrodynamic flood simulations, which are computationally intensive. This approach offers an effective and practical way to rank the influencing parameters, quantify the contribution of each parameter to the variability of the outputs, and investigate the possible interaction between the input parameters. A number of 2D flood simulations have been carried out using the proposed combinations by Taguchi (L27…
Pyriproxyfen, a juvenoid hormone analog, does not induce male production in parthenogenetic lineages of Eucypris virens (Crustacea: Ostracoda)
2007
Analogs of juvenoid hormones are increasingly recommended for controlling insect pests in agriculture. One of these analogs, pyriproxyfen, was found to be very potent in inducing male production in Daphnia under laboratory conditions, even after acute exposure. Other studies also demonstrated a major role of juvenoid hormones for the sex determination in arthropods that have sex chromosomes. We exposed parthenogenetic lineages of the freshwater ostracod Eucypris virens to a wide range of pyriproxyfen concentrations, and compared mortality and fecundity between treated and control animals. Animals exposed to the highest concentrations of pyriproxyfen (3-30 nM) experienced a higher mortality …
First record of Hemidiaptomus (Gigantodiaptomus) superbus (Schmeil, 1895) in Italy, with notes on distribution and conservation status (Copepoda, Cal…
2011
Hemidiaptomus (Gigantodiaptomus) superbus (Schmeil, 1895) was found in a temporary pool in the Pineta di Classe coastal pine-wood (Ravenna, northern Italy). This is the first official record of a species belonging to the subgenus Gigantodiaptomus of Italian fauna, and it widens the known distribution of this rare diaptomid to the Mediterranean basin. In order to supply data on this rare and poorly known species, original drawings for the Italian population have been provided, and some overlooked morphological features have been highlighted. In light of the growing evidence of the existence of a number of cryptic species in the Diaptomidae family, and considering the variability observed in …
Distribution of recent ostracods in inland waters of Sicily (Southern Italy)
2006
From 2003 to 2005, freshwater ostracods were sampled in 67 water bodies of mainland Sicily (Provinces of Agrigento, Caltanisetta, Catania, Enna, Palermo, Messina, Ragusa, Siracusa and Trapani) located from sea level up to 1300 m a.s.l. This survey took into account streams, springs, wells, but especially temporary and ephemeral habitats (e.g., flooded meadows, temporary ponds). The aim of this research was to give the first comprehensive picture of the regional ostracod fauna and establish relationships between the distribution of ostracod species and some habitat features. Altogether, 21 ostracod taxa belonging to five families (Candonidae, Ilyocyprididae, Cyprididae, Notodromadidae, and L…