8 research outputs found

    Challenging DESs and ILs in the valorization of food waste: a case study

    Get PDF
    In this study, the efficacy of two of the best performing green solvents for the fractionation of lignocellulosic biomass, cholinium arginate (ChArg) as biobased ionic liquid (Bio-IL) and ChCl:lactic acid (ChCl:LA, 1:10) as natural deep eutectic solvent (NADES), was investigated and compared in the pretreatment of an agri-food industry waste, apple fibers (90 degrees C for 1 h). For the sake of comparison, 1-butyl-3-methylimidazolium acetate (BMIM OAc) as one of the best IL able to dissolve cellulose was also used. After the pretreatment, two fractions were obtained in each case. The results gathered through FTIR and TG analyses of the two materials and the subsequent DNS assay performed after enzymatic treatment led to identify ChArg as the best medium to delignify and remove waxes, present on the starting apple fibers, thus producing a material substantially enriched in cellulose (CRM). Conversely, ChCl:LA did not provide satisfactorily results using these mild conditions, while BMIM OAc showed intermediate performance probably on account of the reduced crystallinity of cellulose after the dissolution-regeneration process. To corroborate the obtained data, FTIR and TG analyses were also performed on the residues collected after the enzymatic hydrolysis. At the end of the pretreatment, ChArg was also quantitatively recovered without significant alterations

    Trehalose Treatment in Zebrafish Model of Lafora Disease

    Get PDF
    Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. To date, rodents are the only available models for studying LD; however, their use for drug screening is limited by regulatory restrictions and high breeding costs. To investigate the role of laforin loss of function in early neurodevelopment, and to screen for possible new compounds for treating the disorder, we developed a zebrafish model of LD. Our results showed the epm2a−/− zebrafish to be a faithful model of LD, exhibiting the main disease features, namely motor impairment and neuronal hyperexcitability with spontaneous seizures. The model also showed increased inflammatory response and apoptotic death, as well as an altered autophagy pathway that occurs early in development and likely contributes to the disease progression. Early administration of trehalose was found to be effective for rescuing motor impairment and neuronal hyperexcitability associated with seizures. Our study adds a new tool for investigating LD and might help to identify new treatment opportunities

    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

    Get PDF
    Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

    Guidelines for the use and interpretation of diagnostic methods in adult food allergy

    Get PDF
    Food allergy has an increasing prevalence in the general population and in Italy concerns 8 % of people with allergies. The spectrum of its clinical manifestations ranges from mild symptoms up to potentially fatal anaphylactic shock. A number of patients can be diagnosed easily by the use of first- and second-level procedures (history, skin tests and allergen specific IgE). Patients with complex presentation, such as multiple sensitizations and pollen-food syndromes, frequently require a third-level approach including molecular diagnostics, which enables the design of a component-resolved sensitization profile for each patient. The use of such techniques involves specialists' and experts' skills on the issue to appropriately meet the diagnostic and therapeutic needs of patients. Particularly, educational programs for allergists on the use and interpretation of molecular diagnostics are needed

    New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

    No full text
    COQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q(10) (CoQ(10)), a molecule with primary importance in cell metabolism. Mutations in the COQ4 gene are responsible for mitochondrial diseases showing heterogeneous age at onset, clinical presentations and association with CoQ(10) deficiency. We herein expand the phenotypic and genetic spectrum of COQ4-related diseases, by reporting two patients harboring bi-allelic variants but not showing CoQ(10) deficiency. One patient was found to harbor compound heterozygous mutations (specifically, c.577C>T/p.Pro193Ser and the previously reported c.718C>T/p.Arg240Cys) associated with progressive spasticity, while the other harbored two novel missense (c.284G>A/p.Gly95Asp and c.305G>A/p.Arg102His) associated with a neurodevelopmental disorder. Both patients presented motor impairment and ataxia. To further understand the role of COQ4, we performed functional studies in patient-derived fibroblasts, yeast and "crispant" zebrafish larvae. Micro-oxygraphy showed impaired oxygen consumption rates in one patient, while yeast complementation assays showed that all the mutations were presumably disease related. Moreover, characterization of the coq4 F0 CRISPR zebrafish line showed motor defects and cell reduction in a specific area of the hindbrain, a region reminiscent of the human cerebellum. Our expanded phenotype associated with COQ4 mutations allowed us to investigate, for the first time, the role of COQ4 in brain development in vivo

    The representation of the onset of the Covid-19 pandemic and the consequent lockdown in Italy: A psychosocial research by SPS, Studio di Psicosociologia of Rome

    No full text
    A fine febbraio 2020, in SPS4ci siamo chiesti quali fossero i vissuti evocati dalla pandemia Covid-19 in esordio, e quali fatti “derivassero” da tali vissuti. A tal fine abbiamo interpellato 419 persone, tra l’1 marzo e il 5 maggio 2020. Il corpus raccolto è stato analizzato con l’Analisi Emozionale del Testo (AET). Si ipotizzava che la pandemia avesse destrutturato le modalità abituali di rapporto, e pensavamo stessero emergendo dimensioni relazionali inedite. I nostri dati dicono che l’individualismo abituale, di avida competitività, è in crisi. In risposta alla destrutturazione dello schema relazionale amico/nemico, alla base della socialità, è emerso un nuovo individualismo. La rappresentazione del pericolo insito nel contagio pandemico ci ha reso, tutti, potenzialmente nemici gli uni degli altri. Tutti siamo vissuti come potenzialmente nemici di tutti, a meno di non essere dichiaratamente malati. I malati, di contro, non sono vissuti come nemici: sono un’alterità scissa, relegata in un altrove lontano da chi è “sano”. Le cure, nel lockdown, erano confinate nell’ospedale, caratterizzate dall’isolamento, dall’emergenza, dalla morte esperita nel peggiore dei modi. L’altrove è stato reificato in un ospedale diventato sintomatico del fallimento del sistema sanitario. Si è costituito un “noi” qui insieme, sani e maniacalmente felici, e un “loro”contagiati, dannati, isolati e “altrove”. Internet, consentendo vicinanza senza contatto, è diventata un nuovo contesto di socialità. Ha permesso di ridiventare umani, ovvero amici, a meno che non si dimostri il contrario. Ma la nuova amicalità è fondata sulla scissione dall’altro dannato: la coppia malato/curante, e tutti gli esclusi, per diverse motivazioni, dalla protezione del lockdown. Dalla nuova socialità è escluso anche il vissuto dello stare chiusi in casa con gli abituali conviventi, dove emerge la violenza delle relazioni familiari obbligate. Si evidenziano altri esclusi dal noi maniacalmente amicale: gli anziani che non usano internet e che più di tutti rischiano di morire. C’è poi una cultura che, entro il fallimento delle relazioni sociali abituali, sottolinea l’impotenza delle istituzioni (politiche, sanitarie, mediatiche etc.) nella contingenza pandemica. Infine, c’è una cultura pre-lockdown, fatta della paura che porterà a scegliere l’isolamento. Manca, nei dati, il mondo produttivo, che non ha ritrovato, per gli interpellati dalla ricerca –nel periodo di tempo da noi considerato –un codice emozionale condiviso che potesse raccogliersi in un cluster. La ricerca aveva anche un obiettivo di intervento: quello di creare un contesto in cui l’evento pandemia potesse essere interpretato, entro un setting di partecipazione. Oltre a effettuare una pubblicazione rapida dei dati, intendiamo promuovere gruppi di discussione su internet con i partecipanti. La creazione di un contesto di condivisione è anche un motivo dell’alto numero di Autori.At the end of February 2020, in SPS2we asked ourselves what were the experiences evoked by the Covid-19 pandemic in its debut, and what facts “derived”from these experiences. To this end, we interviewed 419 people, between 1 March and 5 May 2020. The collected corpus was analyzed through the Emotional Text Analysis (AET). It was assumed that the pandemic had deconstructed the usual ways of relating, and we thought that new relational dimensions were emerging. Our data show that habitual individualism, of greedy competitiveness, is in crisis. A new individualism has emerged in response to the deconstruction of the friend/foerelational schema, at the basis of sociality. The representation of the danger inherent in the pandemic contagion has made us all potentially enemies of each other. We have all lived as potentially enemies of all, unless we are admittedly sick. The sick, on the other hand, are not experienced as enemies: they are a split otherness, relegated to an elsewhere far from those who are “healthy”. Duringthe lockdown, treatments were confined to the hospital, characterized by isolation, emergency, death experienced in the worst way. The othernesswas reified in a hospital that became symptomatic of the failure of the health system. A “we”has formed here together, healthy and maniacally happy, and a “them”infected, damned, isolated and “elsewhere”. The Internet, by allowing contactless proximity, has become a new context of sociality. It has allowed us to become human again, or friends, unless proven otherwise. But the new friendship is based on the split from the damned other: the sick/caring couple, and all those excluded, for various reasons, from the protection of the lockdown. The experience of being closed at home with the usual cohabitants is also excluded from the new sociality, where the violence of forced family relationships emerges. There are others excluded from a maniacally friendlyus: the elderly who do not use the internet and who most of all risk dying. There is also a culture that, within the failure of habitual social relations, underlines the powerlessness of institutions (political, health, media, etc.) in the pandemic contingency. Finally, there is a pre-lockdown culture, made up of fear that will lead to chooseisolation. In the data, the productive world is missing, which for those interviewed by the research did not find -in the period of time we considered -a shared emotional code that could be gathered in a cluster. The research also had an intervention objective: to create a context in which the pandemicevent could be interpreted, within a setting of participation. In addition to publishing the data quickly, we intend to promote discussion groups onthe internet with participants. The creation of a sharing context is also areason for the high number of Author
    corecore