A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).

Adaptive gene loss in the common bean pan-genome during range expansion and domestication.

The common bean (Phaseolus vulgaris L.) is a crucial legume crop and an ideal evolutionary model to study adaptive diversity in wild and domesticated populations. Here, we present a common bean pan-genome based on five high-quality genomes and whole-genome reads representing 339 genotypes.

Genotype Combinations Drive Variability in the Microbiome Configuration of the Rhizosphere of Maize/Bean Intercropping System.

In an intercropping system, the interplay between cereals and legumes, which is strongly driven by the complementarity of below-ground structures and their interactions with the soil microbiome, raises a fundamental query: Can different genotypes alter the configuration of the rhizosphere microbial communities? To address this issue, we conducted a field study, probing the effects of intercropping and diverse maize ( L.) and bean ( L., L.

Legume byproducts as ingredients for food applications: Preparation, nutrition, bioactivity, and techno-functional properties.

The demand for high-quality alternative food proteins has increased over the last few decades due to nutritional and environmental concerns, leading to the growing consumption of legumes such as common bean, chickpea, lentil, lupin, and pea. However, this has also increased the quantity of non-utilized byproducts (such as seed coats, pods, broken seeds, and wastewaters) that could be exploited as sources of ingredients and bioactive compounds in a circular economy. This review focuses on the incorporation of legume byproducts into foods when they are formulated as flours, protein/fiber or solid/liquid fractions, or biological extracts and uses an analytical approach to identify their nutritional, health-promoting, and techno-functional properties.

Towards the Development, Maintenance and Standardized Phenotypic Characterization of Single-Seed-Descent Genetic Resources for Chickpea.

Here we present the approach used to develop the INCREASE "Intelligent Chickpea" Collections, from analysis of the information on the life history and population structure of chickpea germplasm, the availability of genomic and genetic resources, the identification of key phenotypic traits and methodologies to characterize chickpea. We present two phenotypic protocols within H2O20 Project INCREASE to characterize, develop, and maintain chickpea single-seed-descent (SSD) line collections. Such protocols and related genetic resource data from the project will be available for the legume community to apply the standardized approaches to develop Chickpea Intelligent Collections further or for multiplication/seed-increase purposes.

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

X-linked intellectual deficiency (XLID) is a widely heterogeneous group of genetic disorders that involves more than 100 genes. The mediator of RNA polymerase II subunit 12 (MED12) is involved in the regulation of the majority of RNA polymerase II-dependent genes and has been shown to cause several forms of XLID, including Opitz-Kaveggia syndrome also known as FG syndrome (MIM #305450), Lujan-Fryns syndrome (MIM #309520) and the X-linked Ohdo syndrome (MIM #300895). Here, we report on two first cousins with X-linked Ohdo syndrome with a missense mutation in gene, identified through whole exome sequencing.

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF1 gene variants found in the period 2000-2019 and we studied for genotype/phenotype correlations of disease complications and neoplasms 34 variants, which were shared by at least two unrelated families (range 2-11) for a total 141 of probands and 21 relatives affected by Neurofibromatosis type I. Recurrent variants could be ascribed to the most common mutational mechanisms (C to T transition, microsatellite slippage, non-homologous recombination).

Surface Minimal Bactericidal Concentration: A comparative study of active glasses functionalized with different-sized silver nanoparticles.

In this work the quantification of antimicrobial properties of differently sized AgNPs immobilized on a surface was studied. Three different sizes of spheroidal AgNPs with a diameter of (6, 30 and 52) nm were synthetized and characterized with UV-vis, SEM, TEM and ICP-MS. The MIC (Minimal Inhibitory Concentration) and MBC (Minimal Bactericidal Concentration) against Escherichia coli were investigated.

Method for the Detection of the Cleaved Form of Shiga Toxin 2a Added to Normal Human Serum.

The pathogenesis of -induced hemolytic uremic syndrome (eHUS) caused by infections with pathogenic Shiga toxin (Stx) producing (STEC) is centered on bacterial (e.g., Stx) and host factors (circulating cells, complement system, serum proteins) whose interaction is crucial for the immediate outcome and for the development of this life-threatening sequela.

Environmental impact assessment of different end-of-life LCD management strategies.

The strong growth of the electrical and electronic equipment production combined with its short lifespan are causing the production of a significant amount of waste to treat. In particular, the present paper focuses on end-of-life liquid crystal displays (LCDs) for their significant content of valuable materials, like plastic, glass and metals that could be recovered after dismantling. In the recent literature, traditional LCD recycling processes are combined with innovative treatments, which allow to recover critical raw materials, such as indium.

Cross-current leaching of indium from end-of-life LCD panels.

Indium is a critical element mainly produced as a by-product of zinc mining, and it is largely used in the production process of liquid crystal display (LCD) panels. End-of-life LCDs represent a possible source of indium in the field of urban mining. In the present paper, we apply, for the first time, cross-current leaching to mobilize indium from end-of-life LCD panels.

Bioremediation of contaminated marine sediments can enhance metal mobility due to changes of bacterial diversity.

Bioremediation strategies applied to contaminated marine sediments can induce important changes in the mobility and bioavailability of metals with potential detrimental consequences on ecosystem health. In this study we investigated changes of bacterial abundance and diversity (by a combination of molecular fingerprinting and next generation sequencing analyses) during biostimulation experiments carried out on anoxic marine sediments characterized by high metal content. We provide evidence that the addition of organic (lactose and/or acetate) and/or inorganic compounds to contaminated sediments determines a significant increase of bacterial growth coupled with changes in bacterial diversity and assemblage composition.

Environmental burdens in the management of end-of-life cathode ray tubes.

We compared the environmental burdens in the management of end-of life cathode ray tubes (CRTs) within two frameworks according to the different technologies of the production of televisions/monitors. In the first case, CRT recycling is addressed to the recovery of the panel and funnel glass for the manufacturing of new CRT screens. In the second case, where flat screen technology has replaced that of CRT, the recycling is addressed to the recovery of the glass cullet and lead for other applications.

An environmentally friendly process for the recovery of valuable metals from spent refinery catalysts.

The present study dealt with the whole valorization process of exhaust refinery catalysts, including metal extraction by ferric iron leaching and metal recovery by precipitation with sodium hydroxide. In the leaching operation the effects on metal recovery of the concentration and kind of acid, the concentration of catalyst and iron (III) were determined. The best operating conditions were 0.

Environmental impact assessment of hydrometallurgical processes for metal recovery from WEEE residues using a portable prototype plant.

Life cycle assessment (LCA) was applied to hydrometallurgical treatments carried out using a new portable prototype plant for the recovery of valuable metals from waste electrical and electronic equipment (WEEE). The plant was fed with the WEEE residues from physical processes for the recycling of fluorescent lamps, cathode ray tubes (CRTs), Li-ion accumulators and printed circuit boards (PCBs). Leaching with sulfuric acid was carried out, followed by metal recovery by selective precipitation.

Evolution of microbial "streamer" growths in an acidic, metal-contaminated stream draining an abandoned underground copper mine.

A nine year study was carried out on the evolution of macroscopic "acid streamer" growths in acidic, metal-rich mine water from the point of construction of a new channel to drain an abandoned underground copper mine. The new channel became rapidly colonized by acidophilic bacteria: two species of autotrophic iron-oxidizers (Acidithiobacillus ferrivorans and "Ferrovum myxofaciens") and a heterotrophic iron-oxidizer (a novel genus/species with the proposed name "Acidithrix ferrooxidans"). The same bacteria dominated the acid streamer communities for the entire nine year period, with the autotrophic species accounting for ~80% of the micro-organisms in the streamer growths (as determined by terminal restriction enzyme fragment length polymorphism (T-RFLP) analysis).

Effects of prokaryotic diversity changes on hydrocarbon degradation rates and metal partitioning during bioremediation of contaminated anoxic marine sediments.

We investigated changes of prokaryotic diversity during bioremediation experiments carried out on anoxic marine sediments characterized by high hydrocarbon and metal content. Microcosms containing contaminated sediments were amended with lactose and acetate and incubated in anaerobic conditions up to 60 d at 20 or 35 °C. Microcosms displaying higher degradation efficiency of hydrocarbons were characterized by the dominance of Alphaproteobacteria and Methanosarcinales and the lack of gene sequences belonging to known hydrocarbonoclastic bacteria.

High bacterial biodiversity increases degradation performance of hydrocarbons during bioremediation of contaminated harbor marine sediments.

We investigated changes of bacterial abundance and biodiversity during bioremediation experiments carried out on oxic and anoxic marine harbor sediments contaminated with hydrocarbons. Oxic sediments, supplied with inorganic nutrients, were incubated in aerobic conditions at 20 °C and 35 °C for 30 days, whereas anoxic sediments, amended with organic substrates, were incubated in anaerobic conditions at the same temperatures for 60 days. Results reported here indicate that temperature exerted the main effect on bacterial abundance, diversity and assemblage composition.

Assessment of biotechnological strategies for the valorization of metal bearing wastes.

The present work deals with the application of biotechnology for the mobilization of metals from different solid wastes: end of life industrial catalysts, heavy metal contaminated marine sediments and fluorescent powders coming from a cathode ray tube glass recycling process. Performed experiments were aimed at assessing the performance of acidophilic chemoautotrophic Fe/S-oxidizing bacteria for such different solid matrices, also focusing on the effect of solid concentration and of different substrata. The achieved results have evidenced that metal solubilization seems to be strongly influenced by the metal speciation and partitioning in the solid matrix.

Bioremediation of marine sediments contaminated by hydrocarbons: experimental analysis and kinetic modeling.

This work deals with bioremediation experiments on harbor sediments contaminated by aliphatic and polycyclic aromatic hydrocarbons (PAHs), investigating the effects of a continuous supply of inorganic nutrients and sand amendments on the kinetics of microbial growth and hydrocarbon degradation. Inorganic nutrients stimulated microbial growth and enhanced the biodegradation of low and high molecular weight hydrocarbons, whereas sand amendment increased only the removal of high molecular weight compounds. The simultaneous addition of inorganic nutrients and sand provided the highest biodegradation (>70% for aliphatic hydrocarbons and 40% for PAHs).

Bioremediation of petroleum hydrocarbons in anoxic marine sediments: consequences on the speciation of heavy metals.

We investigated the effects of biostimulation and bioagumentation strategies applied to harbor sediments displaying reducing conditions and high concentrations of petroleum hydrocarbons and heavy metals. We compared the microbial efficiency of hydrocarbon removal from sediments maintained for 60 days in anoxic conditions and inoculated with acetate, sulfate-reducing bacterial strains and acetate and sulfate-reducing bacteria. All treatments determined a significant increase in the microbial growth and significant decreases of hydrocarbon contents and of redox potential values.

Audit of the clinical use of fresh-frozen plasma in Umbria: study design and results of the pilot phase.

Background: Fresh-frozen plasma (FFP) is unanimously recognised by international guidelines as the blood component of choice for the management of acute haemorrhage when accompanied by disorders of haemostasis, for disseminated intravascular coagulation in the presence of haemorrhage, for rare bleeding disorders when specific clotting factor concentrates are not available and for thrombotic thrombocytopenic purpura. The literature, however, reports a high percentage of inappropriate requests for FFP. This article presents the results of a pilot study of clinical auditing of the use of FFP in the Region of Umbria (Italy).

The good use of plasma. A critical analysis of five international guidelines.

Background: The clinical use of fresh-frozen plasma (FFP) is progressively increasing both nationally and internationally, despite the fact that many studies have shown the weaknesses of the indications for its use. Guidelines on the good use of plasma have, therefore, been adopted in various countries. The aim of the present study was to analyse some of the existing guidelines on the good use of plasma, applying a scientifically validated method, as a preliminary step in the implementation of Regional guidelines.