Quantification of the carbon intensity of electricity produced and used in Europe

The EU has a comprehensive legislation to facilitate the energy transition towards a low carbon energy system and achieve the EU's Paris Agreement commitments for reducing greenhouse gas emissions. The European Green Deal is an integral part of the EU strategy for a sustainable and climate neutral economy by 2050. The decarbonisation of the power generation is essential to achieve the goal of decarbonising the energy and transport sectors. This paper presents a study conducted to quantify the carbon emissions associated to the production of electricity produced and used in European countries, based on a comprehensive methodology developed for this purpose. A spreadsheet model has been developed that considers the various sources for electricity generation, the type of plants, conversion efficiencies, upstream emissions and emissions from power plant construction, as well as the electricity trade. The results show the greenhouse gas emissions from the production and use of electricity in all European countries, revealing significant variations between countries. The carbon intensity of electricity shows a clear reduction trend since 1990, for most of the European countries. In the European Union, carbon intensity of electricity used at low voltage degreased from 641 gCO2eq/kWh in 1990 to 334 gCO2eq/kWh in 2019, and this trend is expected to continue in the coming years

What is still limiting the deployment of cellulosic ethanol? Analysis of the current status of the sector

Ethanol production from cellulosic material is considered one of the most promising options for future biofuel production contributing to both the energy diversification and decarbonization of the transport sector, especially where electricity is not a viable option (e.g., aviation). Compared to conventional (or first generation) ethanol production from food and feed crops (mainly sugar and starch based crops), cellulosic (or second generation) ethanol provides better performance in terms of greenhouse gas (GHG) emissions savings and low risk of direct and indirect land-use change. However, despite the policy support (in terms of targets) and significant R&D funding in the last decade (both in EU and outside the EU), cellulosic ethanol production appears to be still limited. The paper provides a comprehensive overview of the status of cellulosic ethanol production in EU and outside EU, reviewing available literature and highlighting technical and non-technical barriers that still limit its production at commercial scale. The review shows that the cellulosic ethanol sector appears to be still stagnating, characterized by technical difficulties as well as high production costs. Competitiveness issues, against standard starch based ethanol, are evident considering many commercial scale cellulosic ethanol plants appear to be currently in idle or on-hold states

Assessment of severity in aortic stenosis – Incremental value of endocardial function parameters compared to standard indexes

Several studies have reported that patients (pts) with severe aortic stenosis and similar pressure gradients or even similar aortic valve areas may have quite different symptomatic status and clinical outcomes suggesting that other factors might have a significant impact on the pathophysiology of this disease. Our purpose was to assess the severity of subendocardial wall dysfunction in symptomatic and asymptomatic pts with aortic stenosis using tissue Doppler imaging (TDI), strain rate imaging (SRI) and cyclic variation of integrated backscatter (IB). We studied 68 pts with aortic valvar stenosis and 46 subjects with no signs of heart disease. SRI/IB indexes were calculated in the apical four chambers views at endocardial level. Early diastolic endocardial strain rate showed the best correlation with transvalvar pressure gradients and valve areas. Compared with controls, symptomatic pts showed a more marked decrease in endocardial strain, strain rate and cyclic variation of IB. Receiver operating characteristic (ROC) curves suggested that the thresholds offering an adequate compromise between sensitivity and specificity for the prediction of symptoms were >/=60 mm Hg for the pressure gradient, less than 0.60 cm(2)/m(2) for aortic valve area, less than 20% for strain, less than 2.0 s(-1) for strain rate and less than 3.0 dB for cyclic variation. The combination of pressure gradient, aortic valve area and SRI/IB parameters resulted in an improvement of the overall performance for predicting the symptomatic state. Thus, SRI/IB parameters have an incremental value in differentiating symptomatic and asymptomatic pts with aortic stenosis compared with conventional hemodynamic parameters

Loss of PALB2 predicts poor prognosis in acute myeloid leukemia and suggests novel therapeutic strategies targeting the DNA repair pathway

Dear Editor, Acute myeloid leukemia (AML) patients carrying complex karyotype or aneuploidies have a very poor prognosis, with a 5-year overall survival (OS) <20%1. We and others have shown that these patients are characterized by high genomic instability, along with defects of DNA damage response (DDR) genes2,3

Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach

none16noopenGabrielli, Orazio; Zampini, Lucia; Monachesi, Chiara; Marchesiello, Rita Lucia; Padella, Lucia; Santoro, Lucia; Volpi, Nicola; Concolino, Daniela; Fiumara, Agata; Rigon, Laura; Mazzoli, Milena; Carnielli, Virgilio Paolo; Giovagnoni, Andrea; Catassi, Carlo; Galeazzi, Tiziana; Coppa, Giovanni ValentinoGabrielli, Orazio; Zampini, Lucia; Monachesi, Chiara; Marchesiello, Rita Lucia; Padella, Lucia; Santoro, Lucia; Volpi, Nicola; Concolino, Daniela; Fiumara, Agata; Rigon, Laura; Mazzoli, Milena; Carnielli, Virgilio Paolo; Giovagnoni, Andrea; Catassi, Carlo; Galeazzi, Tiziana; Coppa, Giovanni Valentin

Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia

Somatic mutations of DNMT3A occur in about 20% of acute myeloid leukemia (AML) patients. They mostly consist in heterozygous missense mutations targeting a hotspot site at R882 codon, which exhibit a dominant negative effect and are associated with high myeloblast count, advanced age, and poor prognosis. Other types of mutations such as truncations, insertions, or single-nucleotide deletion also affect the DNMT3A gene, though with lower frequency. The present study aimed to characterize two DNMT3A gene mutations identified by next-generation sequencing (NGS), through analysis of protein stability and DNA methylation status at CpG islands. The first mutation was a single-nucleotide variant of DNMT3A at exon 20 causing a premature STOP codon (c.2385G > A; p.Trp795 17; NM-022552.4). The DNMT3A mutation load increased from 4.5% to 38.2% during guadecitabine treatment, with a dominant negative effect on CpG methylation and on protein expression. The second mutation was a novel insertion of 35 nucleotides in exon 22 of DNMT3A (NM-022552.4) that introduced a STOP codon too, after the amino acid Glu863 caused by a frameshift insertion (c.2586-2587insTCATGAATGAGAAAGAGGACATCTTATGGTGCACT; p. Thr862-Glu863fsins). The mutation, which was associated with reduced DNMT3A expression and CpG methylation, persisted at relapse with minor changes in the methylation profile and at protein level. Our data highlight the need to better understand the consequences of DNMT3A mutations other than R882 substitutions in the leukemogenic process in order to tailor patient treatments, thus avoiding therapeutic resistance and disease relapse

Approccio globale alle mucopolisaccaridosi: creazione piattaforma web-based

Scopo dello studio: Lo scopo di questo studio è progettare una banca dati accessibile via web in grado di contenere numerosi dati biochimici e clinici di soggetti arruolati all’interno di uno studio nazionale multicentrico PRIN2012. Lo studio prevede, inoltre, la raccolta e la valutazione di campioni provenienti dai modelli murini per la MPSI e MPSII, in trattamento con ERT o Genisteina. Questo progetto si basa sull’applicazione di procedure analitiche ad alta risoluzione per la valutazione qualitativa e quantitativa dei GAG per la diagnosi neonatale di MPS e la verifica dell’efficacia terapeutica in pazienti da MPS e in modelli animali. Nei tre anni di studio si prevede l’arruolamento di circa 60 pazienti MPS in trattamento e non e di 600 neonati. Per la parte preclinica è prevista la valutazione di circa 500 topi. Di ogni categoria verranno raccolte diverse tipologie di campioni biologici in diversi tempi sui quali verranno effettuati differenti tipi di analisi dei GAG. Contemporaneamente verrà effettuata la valutazione clinica dei pazienti MPS. L’obiettivo della creazione di una banca dati è di facilitare l’inserimento, la gestione e la condivisione dei dati, nonché favorire l’interoperabilità tra gli specialisti clinici e biochimici. Metodi utilizzati: E` stata sviluppata una piattaforma software web-based con tecnologia Sharepoint 2010, ospitata su Windows Server 2008. Tale piattaforma collaborativa consta di due macro-moduli, uno per la gestione dei dati, un Relational Database Management System sviluppato in SQL Server 2008 R2 , e uno per la gestione del flusso dei campioni spediti tra le diverse unità di ricerca, un Workflow Management System capace di organizzare, pianificare ed attuare non solo le attività svolte ma anche le informazioni trasferite e poi immagazzinate nel Database condiviso . Risultati: Le cinque unità operative hanno accessi differenziati. L’inserimento dei dati avviene in modo guidato a seconda della classe considerata (neonato, patologico, topo), dell’eventuale patologia e della tipologia di dato, clinico o biochimico. La lettura dati è facilitata da filtri (soggetto, campioni ricevuti, classe di appartenenza, patologia). I soggetti dello studio e tutti i campioni ad esso riferiti vengono codificati mediante un applicativo che consente la creazione di un codice ID dato da una stringa alfanumerica generata in base a delle regole stabilite a priori e analoghe per ogni unità di ricerca in modo che si generi un codice univoco che consenta di collegare tutti i dati relativi ad un determinato soggetto. Infine è possibile esportare i dati raccolti in un formato compatibile con l’importazione in SPSS con cui poter eseguire analisi statistiche. Conclusioni: I dati biochimici e clinici raccolti secondo protocolli definiti, verranno integrati nel database condiviso, indispensabile strumento per ottimizzare la valenza dei dati stessi e promuoverne una più efficace analisi. Tutti questi aspetti contribuiranno ad arricchire la comprensione clinica delle MPS, la variabile presentazione fenotipica e la progressione della malattia. Consentiranno, inoltre una valutazione dell’efficacia terapeutica ottenuta, sulla base dell’analisi dei dati clinici e dei dati biochimici ottenuti con procedura high-throughput. Ricerca finanziata con fondi Progetto PRIN 2012

Novel and rare fusion transcripts involving transcription factors and tumor suppressor genes in acute myeloid leukemia

Approximately 18% of acute myeloid leukemia (AML) cases express a fusion transcript. However, few fusions are recurrent across AML and the identification of these rare chimeras is of interest to characterize AML patients. Here, we studied the transcriptome of 8 adult AML patients with poorly described chromosomal translocation(s), with the aim of identifying novel and rare fusion transcripts. We integrated RNA-sequencing data with multiple approaches including computational analysis, Sanger sequencing, fluorescence in situ hybridization and in vitro studies to assess the oncogenic potential of the ZEB2-BCL11B chimera. We detected 7 different fusions with partner genes involving transcription factors (OAZ-MAFK, ZEB2-BCL11B), tumor suppressors (SAV1-GYPB, PUF60-TYW1, CNOT2-WT1) and rearrangements associated with the loss of NF1 (CPD-PXT1, UTP6-CRLF3). Notably, ZEB2-BCL11B rearrangements co-occurred with FLT3 mutations and were associated with a poorly differentiated or mixed phenotype leukemia. Although the fusion alone did not transform murine c-Kit+ bone marrow cells, 45.4% of 14q32 non-rearranged AML cases were also BCL11B-positive, suggesting a more general and complex mechanism of leukemogenesis associated with BCL11B expression. Overall, by combining different approaches, we described rare fusion events contributing to the complexity of AML and we linked the expression of some chimeras to genomic alterations hitting known genes in AML

Governance and bioeconomy in Adriatic clam fishery (Chamelea gallina),

Abstract. The research, given the growing attention to sustainable use of natural resources, helps to analyze the management instruments implemented by institutions in clam (Chamelea gallina) fishery. This species is commercially exploited with hydraulic dredges along the western coast of Adriatic sea since the 70’s and that has led to a depletion of the resource, with serious consequences on the socio-economic framework of Italian fishing. Starting from the bioeconomic theoretical model, proposed by Gordon and Schaefer in 1954, we analyze through environmental and economic sustainability indicators the impact of political choices in the ’90s in Marche Region. Key words: bioeconomy, governance, Adriatic sea. Résumé Vu l’attention croissante à l’égard de l’utilisation durable des ressources naturelles, la recherche nous aide à analyser les outils de gestion employés dans la pêche des palourdes (Chamelea gallina). Cette espèce est exploitée le long de la côte adriatique occidentale depuis les années 70, ce qui a réduit cette ressource avec des conséquences très graves sur la structure socio-économique de la pêche italienne. En partant du modèle théorique bioéconomique proposé par Gordon et Schaefer en 1954, on a analysé, par le biais d’indicateurs de durabilité économique et environnementale, l’impact des choix politiques des années 90 dans la région des Marche. Mots clés: bioéconomie, gouvernance, mer Adriatique