Liver stiffness assessed by transient elastography in patients with ß thalassaemia major.

RATIONALE FOR THE STUDY: This cross-sectional multicenter study was conducted to investigate any difference in liver stiffness measurements (LSM), evaluated by transient elastography, between patients affected by ß thalassaemia major, with and without hepatitis C virus (HCV) infection, and healthy blood donors (controls). Secondary aim was to assess any correlation between transient elastography and serum ferritin, liver magnetic resonance imaging (MRI) T2* or superconductive quantum interference device (SQUID) liver susceptometry values. MATERIALS AND METHODS: The study involved three centers. Transient elastography and MRI T2* examinations were performed in all centers. SQUID liver susceptometry was performed in center1 and center2. T-test for independent data or Mann-Whitney U test was used to analyse differences between two groups. Univariate Pearson's r coefficient was used to test correlations between liver stiffness measurements and all other variables. RESULTS: In a study with 119 patients and 183 controls, patients who had never been infected with HCV showed significantly higher LSMs than controls [5.7 (95% CI, 5.2-6.2) kPa vs. 4.3 (95% CI, 4.1-4.4) kPa, p < 0.0001]. A moderate correlation between LSMs and ferritin values, adjusted for gender and age, was found in patients (r = 0.49, p < 0.0001) but not in controls (r = -0.22, p = 0.6). No correlation between LSMs and MRI T2* or SQUID liver susceptometry values was observed. In conclusion, compared to controls ß thalassaemia major patients had a significant increase in LSMs independently from HCV infection.

Exploring Less Invasive Visual Surveys to Assess the Spatial Distribution of Endangered Mediterranean Trout Population in a Small Intermittent Stream.

Monitoring the conservation status of endangered freshwater fish using less invasive methods poses challenges for ecologists and conservationists. Visual surveys have been proposed as an alternative to electrofishing, which is a standard methodology that can cause injuries, physiological stress and post-release mortality in organisms. To test the efficacy of visual methods, a study was conducted in an intermittent stream of Sardinia (Italy). Two visual methods were employed: a visual survey from streambanks (VSS) and an underwater visual survey (UVS) using cameras. The aims of this study were (1) to compare the effectiveness of these methods in detecting patch occupancy patterns and (2) to investigate the effect of environmental variables on the detection probability of Mediterranean native trout. Environmental variables characterizing pool habitats were recorded, and generalized linear models (GLMs) were employed to assess the correlation between these variables and trout presence/absence. GLM analysis revealed that UVS had higher detection probability with larger pool volume, whereas submerged macrophytes negatively affected detection probability. Detection from streambanks (VVS) was negatively affected by a high turbulence rate. In conclusion, our study suggests the utility of visual methods to describe patterns of patch occupancy of Mediterranean trout. However, methods can be differently affected by environmental variables. Therefore, monitoring programs using these methods should consider these factors to ensure a reliable description of within-stream trout distribution in intermittent streams.

Shrub Cover and Soil Moisture Affect Taxus baccata L. Regeneration at Its Southern Range.

The effect of key ecological and anthropic factors on the recruitment of the common yew (Taxus baccata L.) in Sardinia (Italy) has been analyzed. After bibliographic and cartographic research, followed by field surveys, we found 232 sites where yew grows in Sardinia (as opposed to 69 previously reported in the literature). Among them, we selected 40 sites, located in 14 different mountain chains, characterized by a number of individuals ranging from 11 to 836 adult yews with an average diameter at breast height (DBH) from 13 to 130 cm. By means of generalized linear modeling, we investigated and weighted the effect of ecological, structural, and anthropic factors on the amount of T. baccata recruitment. Our analyses showed that stand recruitment was positively correlated to shrub cover and soil moisture. In particular, shrub cover had a stronger effect, clearly showing that a thicker shrub layer, both bushy and/or spiny, corresponded to a higher number of yew seedlings and saplings. Secondarily, moister sites had a higher number of seedlings and saplings, showing that habitat suitability improved with higher humidity. On the contrary, recruitment was negatively correlated to browsing (both from livestock and wild animals). Our data confirm that the presence of a protective layer of shrubs is a crucial factor for seedling and sapling survival, mostly in relation to protection from summer drought and the browsing of large herbivores. Finally, guidelines for the conservation and restoration of T. baccata communities, referred to as the EU priority habitat 9580* (Mediterranean Taxus baccata woods), have been outlined.

Understanding biodiversity effects on prey in multi-enemy systems.

Biodiversity-ecosystem functioning theory would predict that increasing natural enemy richness should enhance prey consumption rate due to functional complementarity of enemy species. However, several studies show that ecological interactions among natural enemies may result in complex effects of enemy diversity on prey consumption. Therefore, the challenge in understanding natural enemy diversity effects is to predict consumption rates of multiple enemies taking into account effects arising from patterns of prey use together with species interactions. Here, we show how complementary and redundant prey use patterns result in additive and saturating effects, respectively, and how ecological interactions such as phenotypic niche shifts, synergy and intraguild predation enlarge the range of outcomes to include null, synergistic and antagonistic effects. This study provides a simple theoretical framework that can be applied to experimental studies to infer the biological mechanisms underlying natural enemy diversity effects on prey.

A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes.

Because different findings suggest that an immune dysregulation plays a role in the pathogenesis of myelodysplastic syndrome (MDS), we analyzed a large cohort of patients from a homogeneous Sardinian population using ImmunoChip, a genotyping array exploring 147,954 single-nucleotide polymorphisms (SNPs) localized in genomic regions displaying some degree of association with immune-mediated diseases or pathways. The population studied included 133 cases and 3,894 controls, and a total of 153,978 autosomal markers and 971 non-autosomal markers were genotyped. After association analysis, only one variant passed the genome-wide significance threshold: rs71325459 (p = 1.16 × 10-12), which is situated on chromosome 20. The variant is in high linkage disequilibrium with rs35640778, an untested missense variant situated in the RTEL1 gene, an interesting candidate that encodes for an ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair, and maintenance of genomic stability. The second most associated signal is composed of five variants that fall slightly below the genome-wide significance threshold but point out another interesting gene candidate. These SNPs, with p values between 2.53 × 10-6 and 3.34 × 10-6, are situated in the methylene tetrahydrofolate reductase (MTHFR) gene. The most associated of these variants, rs1537514, presents an increased frequency of the derived C allele in cases, with 11.4% versus 4.4% in controls. MTHFR is the rate-limiting enzyme in the methyl cycle and genetic variations in this gene have been strongly associated with the risk of neoplastic diseases. The current understanding of the MDS biology, which is based on the hypothesis of the sequential development of multiple subclonal molecular lesions, fits very well with the demonstration of a possible role for RTEL1 and MTHFR gene polymorphisms, both of which are related to a variable risk of genomic instability.

Temporal variability of local abundance, sex ratio and activity in the Sardinian chalk hill blue butterfly.

When capturing and marking of individuals is possible, the application of newly developed capture-recapture models can remove several sources of bias in the estimation of population parameters such as local abundance and sex ratio. For example, observation of distorted sex ratios in counts or captures can reflect either different abundances of the sexes or different sex-specific capture probabilities, and capture-recapture models can help distinguish between these two possibilities. Robust design models and a model selection procedure based on information-theoretic methods were applied to study the local population structure of the endemic Sardinian chalk hill blue butterfly, Polyommatus coridon gennargenti. Seasonal variations of abundance, plus daily and weather-related variations of active populations of males and females were investigated. Evidence was found of protandry and male pioneering of the breeding space. Temporary emigration probability, which describes the proportion of the population not exposed to capture (e.g., absent from the study area) during the sampling process, was estimated, differed between sexes, and was related to temperature, a factor known to influence animal activity. The correlation between temporary emigration and average daily temperature suggested interpreting temporary emigration as inactivity of animals. Robust design models were used successfully to provide a detailed description of the population structure and activity in this butterfly and are recommended for studies of local abundance and animal activity in the field.