1,721,078 research outputs found
Autistic traits and illness trajectories
Full text linkIn the framework of increasing attention towards autism-related conditions, a growing number of studies have recently investigated the prevalence and features of sub-threshold Autistic Traits (ATs) among adults. ATs span across the general population, being more pronounced in several clinical groups of patients affected by psychiatric disorders. Moreover, ATs seem to be associated with specific personality features in non-clinical population, implying both a higher vulnerability towards psychopathology and extraordinary talents in specific fields. In this framework, the DSM-5’s Autism Spectrum Disorder (ASD) presentations may be considered as the tip of an iceberg that features several possible clinical and non-clinical phenotypes. Globally, the autism spectrum may be considered as a trans-nosographic dimension, which may not only represent the starting point for the development of different psychopathological trajectories but also underlie non-psychopathological personality traits. These different trajectories might be shaped by the specific localization and severity of the neurodevelopmental alteration and by its interaction with the environment and lifetime events. In this wider framework, autistic-like neurodevelopmental alterations may be considered as a general vulnerability factor for different kinds of psychiatric disorders, but also the neurobiological basis for the development of extraordinary abilities, eventually underlying the concept of geniality. Moreover, according to recent literature, we hypothesize that ATs may also be involved in the functioning of human mind, featuring the peculiar sense of “otherness” which can be found, with different grades of intensity, in every human being
Camouflaging: Psychopathological meanings and clinical relevance in autism spectrum conditions
No full textIn the last decade, increasing literature focused on camouflaging as a strategy adopted to cope with social environment by subjects with Autism spectrum disorder (ASD). A better understanding of this phenomenon may shed more light on cognitive mechanisms and coping strategies of subjects in the autism continuum, eventually leading to reconsider some previous "dogmas" in this field, such as the gender's discrepancy in ASD diagnosis. Moreover, shared features can be observed in the camouflaging strategies adopted amongst the general population, amongst subjects of the autism spectrum and amongst patients with different kinds of psychiatric disorders, further challenging our perspectives. Camouflaging behaviours might be considered as a transdiagnostic element, closely associated with the continuous distribution of the autism spectrum amongst the general and the clinical population
The neurodevelopmental continuum towards a neurodevelopmental gradient hypothesis
Full text linkIn contrast to the categorical approach of the current nosographic system, in the last decades increasing literature is suggesting that psychiatric disorders may be better conceptualized as a continuum, which would feature as a common basis a neurodevelopmental alteration. The “neurodevelopmental continuum” (NC) is a theoretical framework supported by several empirical evidences in multiple fields of research. The conceptual core of this model is that an alteration in brain development, the expression of which would be determined by the intertwined relationships between genetic and environmental factors, may constitute the common underpinning of different kinds of mental disorders. Moreover, the NC theory also implies that psychiatric conditions could be placed along a gradient, where autism spectrum disorder (ASD) with intellectual disabilities would be the most severe expression of an alteration of the “social brain development”, followed by other DSM-5 neurodevelopmental phenotypes characterized by a milder impairment. This model would subsequently include, along a decreasing neurodevelopmental gradient, other psychiatric conditions such as schizophrenia and mood disorders as well as eating and anxiety disorders, encompassing also non-psychopathological personality traits. From a cognitive point of view, the link between neurodevelopmental alterations and vulnerability towards psychopathology could be identified in an impairment of the proprioceptive experience and of the interoceptive inference, which would prevent the patient to properly define his own subjectivity and to adequately place him-self in the relational space. The conceptual framework proposed here may allow significant changes in both research and clinical settings, eventually leading to improve therapeutic and prevention strategies
Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene.
No full textThe human gene hnRNP I encoding the heterogeneous nuclear ribonucleoprotein type I, an alternative splicing modulator of tissue-specific transcripts, also known as PTB (polypyrimidine tract-binding protein), was recently mapped on chromosome 14, as well as on chromosome 19, suggesting that two closely related copies of the same gene might exist in the human genome. We report here that the gene localized on chromosome 14 corresponds to a highly homologous processed pseudogene related to hnRNP I gene (yhnRNP I). Analysis by RT-PCR and by EST database comparison indicates that yhnRNP I is not expressed. In this report we have also analyzed the organization of the actual hnRNP I gene localized on chromosome 19. The DNA sequence at the intron-exon boundaries unveiled the possible mechanism by which three isoforms of the protein (namely hnRNP I, PTB2 and PTB3) are generated by means of alternative splicing of the same hnRNP I gene transcript. (C) 2000 Elsevier Science B.V. All rights reserve..
Identificazione molecolare e caratterizzazione di una nuova proteina che si associa al fattore di regolazione dello splicing PTB
No full textCaratterizzazione di una nuova proteina hnRNP umana, omologa alla proteina Raver 1 di topo implicata nel differenziamento muscolare
No full textGoing Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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