882 research outputs found

    DJ-1 as a deglycating enzyme: A unique function to explain a multifaceted protein?

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    The recently reported deglycating activity of DJ-1 reconciles several features previously described for the protein. The deglycating activity reported for DJ-1 may explain its different subcellular localizations, indeed the protein has been found in the cytoplasm, nucleus, and mitochondria. Moreover, this proposed activity could help to understand the involvement of the protein in Parkinson's disease (PD), tumor growth and diabetes

    Zipf and Heaps laws from dependency structures in component systems

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    Complex natural and technological systems can be considered, on a coarse-grained level, as assemblies of elementary components: for example, genomes as sets of genes, or texts as sets of words. On one hand, the joint occurrence of components emerges from architectural and specific constraints in such systems. On the other hand, general regularities may unify different systems, such as the broadly studied Zipf and Heaps laws, respectively concerning the distribution of component frequencies and their number as a function of system size. Dependency structures (i.e., directed networks encoding the dependency relations between the components in a system) were proposed recently as a possible organizing principles underlying some of the regularities observed. However, the consequences of this assumption were explored only in binary component systems, where solely the presence or absence of components is considered, and multiple copies of the same component are not allowed. Here, we consider a simple model that generates, from a given ensemble of dependency structures, a statistical ensemble of sets of components, allowing for components to appear with any multiplicity. Our model is a minimal extension that is memoryless, and therefore accessible to analytical calculations. A mean-field analytical approach (analogous to the "Zipfian ensemble" in the linguistics literature) captures the relevant laws describing the component statistics as we show by comparison with numerical computations. In particular, we recover a power-law Zipf rank plot, with a set of core components, and a Heaps law displaying three consecutive regimes (linear, sub-linear and saturating) that we characterize quantitatively

    Family-specific scaling laws in bacterial genomes

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    Among several quantitative invariants found in evolutionary genomics, one of the most striking is the scaling of the overall abundance of proteins, or protein domains, sharing a specific functional annotation across genomes of given size. The size of these functional categories change, on average, as power-laws in the total number of protein-coding genes. Here, we show that such regularities are not restricted to the overall behavior of high-level functional categories, but also exist systematically at the level of single evolutionary families of protein domains. Specifically, the number of proteins within each family follows family-specific scaling laws with genome size. Functionally similar sets of families tend to follow similar scaling laws, but this is not always the case. To understand this systematically, we provide a comprehensive classification of families based on their scaling properties. Additionally, we develop a quantitative score for the heterogeneity of the scaling of families belonging to a given category or predefined group. Under the common reasonable assumption that selection is driven solely or mainly by biological function, these findings point to fine-tuned and interdependent functional roles of specific protein domains, beyond our current functional annotations. This analysis provides a deeper view on the links between evolutionary expansion of protein families and the functional constraints shaping the gene repertoire of bacterial genomes.Comment: 41 pages, 16 figure

    Circadian Rhythm Abnormalities in Parkinson's Disease from Humans to Flies and Back

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    Clinical and research studies have suggested a link between Parkinson\u2019s disease (PD) and alterations in the circadian clock. Drosophila melanogaster may represent a useful model to study the relationship between the circadian clock and PD. Apart from the conservation of many genes, cellular mechanisms, signaling pathways, and neuronal processes, Drosophila shows an organized central nervous system and well-characterized complex behavioral phenotypes. In fact, Drosophila has been successfully used in the dissection of the circadian system and as a model for neurodegenerative disorders, including PD. Here, we describe the fly circadian and dopaminergic systems and report recent studies which indicate the presence of circadian abnormalities in some fly PD genetic models. We discuss the use of Drosophila to investigate whether, in adults, the disruption of the circadian system might be causative of brain neurodegeneration. We also consider approaches using Drosophila, which might provide new information on the link between PD and the circadian clock. As a corollary, since PD develops its symptomatology over a large part of the organism\u2019s lifespan and given the relatively short lifespan of fruit flies, we suggest that genetic models of PD could be used to perform lifelong screens for drug-modulators of general and/or circadian-related PD traits

    COMORBIDITY BETWEEN FACTITIOUS AND BORDERLINE PERSONALITY DISORDER: A NARRATIVE ANALYSIS

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    Background: Factitious disorder (FD) illnesses have increased recently, primarily due to comorbidity with borderline personality disorder (BPD). Psychiatrists, hospital doctors, and general practitioners are interested in and concerned about patients with comorbid FD-BPD. Subjects and methods: We used a qualitative analysis of prototypical narratives collected as vignettes by merging individual contributions, case histories, naturalistic observations, and data from mental health practitioners into specific descriptions. Our study used a phenomenological and narrative method to illustrate the contents and behaviours in FD-BPD comorbidity. Results: Fourteen case vignettes were created from our case studies. These categories included knowledge of symptoms and medical terms, dramatisation, symptoms ambiguity, unexplainable deterioration of symptoms, symptom inventiveness, craving for painkillers, conflicts with health carers, hospital migration, piling of medication and search for invasive diagnostic procedures. Conclusions: The combined use of narrative analysis and naturalistic observation has helped identify a unique comorbid condition of FD-BPD, which is not yet clearly described in its behavioural components by the international literature. The current study presents novel findings into a condition becoming progressively popular in psychiatric and medical settings

    CAA e 4Co: opportunitĂ  didattiche della comunicazione aumentativa e alternativa su dispositivi mobili

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    AAC and 4Co: Educational Opportunities of the Augmentative and Alternative Communication on Mobile DevicesIn this paper we present an experience of the application of Augmentative and Alternative Communication (AAC) with four persons with severe language and motor impairments. Two applications (apps) on Android tablets were tried with one subject who had negatively experienced traditional communication boards at school and with three subjects who had never been considered before for AAC intervention. After a six-month trial, based on the co-construction of a personalized communication table with each of the four subjects, we achieved encouraging results: the ease of use of the proposed instruments enabled the persons involved in the experimentation to improve their communication capabilities, to better express their choices and feelings, and to extend their communication circles. These results show that AAC can be successfully applied to severe disabilities and encourages research in this direction. The experience, which is in progress in other contexts and with other pathologies, was heavily time-consuming with reference to the efforts required by the personalized development phase. For the future, we propose a mix of universal design and personalization so that the resulting tools can be regarded as convenient, competent, consonant and contextual

    Digital storytelling and teacher education: an experience in initial teacher training

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    A group of pre-service teachers experienced the digital storytelling as part of their e-learning duties. We describe the structure of the project-work carried out by the students and discuss the results of a questionnaire they filled out after the end of the course, aiming to gather their opinions. The students claim to have enjoyed the proposal and most of them are likely to repeat it in their school, either by developing digital stories themselves or by involving their future students as designers and developers. By questionnaire and interviews with the participants, it is clear that the development experience has changed their attitude towards educational technology, enhanced their digital skills, and increased their self-esteem.Digital storytelling nella formazione iniziale degli insegnanti: un’esperienza nel Tirocinio Formativo AttivoUn gruppo di aspiranti insegnanti iscritti al Tirocinio Formativo Attivo ha affrontato un’esperienza di digital storytelling come parte dei compiti di didattica a distanza. Viene qui descritta la struttura del lavoro svolto dai corsisti e si riflette sui risultati di un questionario sottoposto al termine del corso per rilevarne le opinioni. I corsisti dichiarano di aver gradito la proposta e buona parte di loro ritiene probabile ripeterla a scuola, anche coinvolgendo gli studenti nel progetto e nella realizzazione di narrazioni digitali multimediali. Da questionario e colloqui con i corsisti si deduce che l’esperienza di sviluppo ha mutato il loro atteggiamento verso le tecnologie didattiche, aumentato la loro efficacia come comunicatori digitali e accresciuto la loro autostima

    Fast exploration of potential energy surfaces with a joint venture of quantum chemistry, evolutionary algorithms and unsupervised learning

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    Contemporary molecular spectroscopy allows the study of flexible molecules, whose conformational behavior is ruled by flat potential energy surfaces (PESs) involving a large number of energy minima with comparable stability. Under such circumstances assignment and interpretation of the spectral signatures can strongly benefit from quantum chemical computations, which face, however, several difficulties. In particular, the mandatory characterization of all the relevant energy minima leads to a huge increase in the number of accurate quantum chemical computations (which may even hamper the feasibility of a study) and the intricate couplings among several soft degrees of freedom can defy simple heuristic approaches and chemical intuition. From this point of view, the exploration of flat PESs is akin to other optimization problems and can be tackled with suitable metaheuristics, which can drive QC computations by reducing the number of necessary calculations and providing effective routes to sample the most relevant regions of the PES. Unfortunately, in spite of the significant reduction of the number of QC calculations, a brute-force approach based on state-of-the-art methods remains infeasible. This problem can be solved effectively by multi-level strategies combining methods of different accuracy in the first PES exploration, refinement of the structures of the most important stationary points and computation of spectroscopic parameters. Building on previous experience, in this contribution we introduce new improvements in an evolutionary algorithm based method using curvilinear coordinates for both intra- and inter-molecular interactions. Two test cases will be analyzed in detail, namely aspartic acid in the gas-phase and the silver cation in aqueous solution. Comparison between fully a priori computed spectroscopic parameters and the experimental counterparts will provide an unbiased validation of the proposed strategy

    PSYCHIATRY IN TIME OF COVID-19 PANDEMIC

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    COVID-19 or Coronavirus pandemic has generated a very serious and grave global concern regarding the health of every person in the whole world. Besides, due to the rapid diffusion of the viral infection, there are already alarms on how to deal with the psychiatric aspects of COVID-19 pandemic in persons with an established diagnosis of psychiatric disorders, staff, and those in selfisolation. What is the influence of COVID-19 on mental health? The current study will review the psychiatric implications of COVID-19 pandemic on the general population, the bearing of social isolation, the prevention behaviours, and clinical cases of people who required psychiatric admission to hospital due to the emotional impact of COVID-19 social circumstances
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