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

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

Multiple sulfatase deficiency with neonatal manifestation.

Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G)

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

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

Effect of annealing on structure and superconducting properties in Fe(Se,Te)

Abstract In this paper, the effect of post synthesis annealing treatments on a Fe(Se,Te) polycrystalline material is evaluated and discussed. The samples have been obtained via melting route. The material has been subjected to a high-temperature annealing treatment, carried out for 45 h at 680 °C. The role of the cooling step was investigated comparing samples obtained after a controlled cooling or after quenching in liquid nitrogen. From a morpho-structural point of view, the annealing treatment improves homogeneity, with respect to pristine samples, and influences secondary phase precipitate morphology. Regarding superconducting properties, a key role of the cooling procedure is assessed: controlled cooling leads in fact to a significant improvement of high field behaviour with respect to the melted material, while quenched samples are characterized by a worsening of the superconducting properties. Despite the overall worsening, however, the quenched samples show evidence of the presence of superconducting phases characterized by a remarkably high critical temperature (Tc > 18 K), observed for these materials only in films or under pressure

Effect of oxygen contamination on densification of Fe(Se,Te)

Abstract The optimization of sintering behaviour of iron chalcogenides superconducting materials is mandatory to enhance their critical current density, in order to pursuit their application in the production of superconducting wires. In this context it has been investigated here the effect of oxygen contamination on the material densification, considering the issues related to industrial oxygen-free isolated production lines. Our results show that the densification process is negatively affected by oxygen contamination. However, despite the difference in density, all sintered samples are characterized by similar structural and morphological features, and show comparable electrical and magnetic properties, with low critical current densities (Jc<103 A/cm2). These results suggest that densification is not the key limiting factor in these conditions, and that grain boundary or misorientation factors may play a greater role in limiting the performance of sintered iron chalcogenides superconductors

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