481 research outputs found

    Karl BĂĽhler's Fantasmatic Deixis Between Motion, Gestures, and Words

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    Summary What is the "fantasmatic deixis"? It is a very creative and productive cognitive–linguistic operation that allows a "transfer" to other real or fantastic times, places, and "worlds". The underlying psychological question concerns the possibility of moving and being moved with respect to something or someone who is absent (Bühler, 1965). This "fiction game" is made possible by deictic indicators (Tenchini, 2008), terms that allow motion in time and space, always considering the here–now–I system of subjective orientation. When we refer to something that can be gathered by hearing or by sight, by terms such as here, there, I, and you, the receiver can easily use natural, prelinguistic aids (e.g., gestures, voice quality, facial expressions, and body orientation) to understand what the issuer intends to communicate to him (demonstratio ad oculos). But what happens when we move from the study of "immediate" behavior to that of "mediate" behavior, i.e., the field of memories (retrospection) or the constructive fantasy (prospecting)? The fantasmatic deixis implies enfranchisement from the physical position of the body and requires the assumption of the listener's current tactile body image. Thus, the receiver assumes an inner attitude to correctly interpret the indications given by the speaker, seeing and hearing through the "inner" or "mental" eye and ear (Raynaud, 2006). In this way, the listener can bring something absent in his/her here, now, and I or feel moved to the point where the speaker leads him/her. My paper will focus on the features and types of fantasmatic deixis, providing some examples and showing how this operation involves language, motion, and cognitive processes

    The contributions of working memory domains and processes to early mathematical knowledge between preschool and first grade

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    Working Memory (WM) plays a crucial role in supporting children\u2019s mathematical learning. However, there is no consensus on the relative contributions of different WM domains (i.e., verbal, visuo-spatial, and numerical\u2013verbal) and processes (i.e., low-control and high-control) to mathematical performance, specifically before and after the onset of formal education. This cross-sectional study examined the relations between WM domains and processes and early mathematical knowledge, comparing a group of children in the second year of preschool (N = 66) to a group of first graders (N = 110). Results of multigroup path analysis showed that whereas visuo-spatial low-control WM significantly predicted early mathematical knowledge only among preschoolers, verbal low-control WM was a significant predictor only among first graders. Instead, the contribution of visuo-spatial high-control WM emerged as significant for both age groups, as well as that of numerical\u2013 verbal WM, although the latter to a greater extent among preschoolers. These findings provide new insights into the WM domains and processes most involved in early mathematical knowledge at different developmental stages, with potential implications for the implementation of age-appropriate training interventions targeting specific WM skills before and after the onset of formal education

    Uno studio longitudinale all'inizio della scuola dell'infanzia per l'individuazione dei bambini a rischio di difficoltĂ  matematica

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    La valutazione precoce delle abilità cognitive alla base dell’apprendimento matematico rappresenta uno strumento funzionale all’individuazione dei bambini a rischio di difficoltà. Muovendosi in quest’ottica, il presente studio longitudinale, condotto nell’arco del primo anno della scuola dell’infanzia, ha l’obiettivo di indagare il ruolo di alcuni precursori cognitivi dominio-generali (Memoria di Lavoro verbale e visuo-spaziale e attenzione selettiva) e dominio-specifici (conteggio, riconoscimento di cifre e acuità dell’Approximate Number System) sia nel predire la competenza matematica sia nell’identificare i bambini a rischio in un campione di 153 partecipanti. I risultati, che rivelano un contributo significativo di abilità sia generali sia specifiche, sono discussi in termini di implicazioni cliniche

    Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy

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    OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset. METHODS: A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction 70 mL/m2 as event (confirmed by a previous normal exam < 12 months prior); DCM-free patients were censored at the age of last echocardiographic follow-up. RESULTS: Patients were followed up to an average age of 15.9 \ub1 6.7 years. Seventy-one/178 patients developed DCM, and median age at onset was 20.0 years. Glucocorticoid corticosteroid treatment (n = 88 untreated; n = 75 treated; n = 15 unknown) did not have a significant independent effect on DCM onset. Cardiological medications were not administered before DCM onset in this population. We observed trends towards a protective effect of the dominant G allele at SPP1 rs28357094 and recessive T allele at LTBP4 rs10880, which was statistically significant in steroid-treated patients for LTBP4 rs10880 (< 50% T/T patients developing DCM during follow-up [n = 13]; median DCM onset 17.6 years for C/C-C/T, log-rank p = 0.027). CONCLUSIONS: We report a putative protective effect of DMD genetic modifiers on the development of cardiac complications, that might aid in risk stratification if confirmed in independent cohorts

    Pedicularis L. Genus. Systematics, botany, phytochemistry, chemotaxonomy, ethnopharmacology, and other

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    In this review, the relevance of the plant species belonging to the Pedicularis L. genus has been considered from different points of view. Particular emphasis was given to phytochemistry and ethnopharmacology, since several classes of natural compounds have been reported within this genus and many of its species are well known to be employed in the traditional medicines of many Asian countries. Some important conclusions on the chemotaxonomic and chemosystematic aspects of the genus have also been provided for the first time. Actually, this work represents the first total comprehensive review on this genus

    The emerging role of cancer nanotechnology in the panorama of sarcoma

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    In the field of nanomedicine a multitude of nanovectors have been developed for cancer application. In this regard, a less exploited target is represented by connective tissue. Sarcoma lesions encompass a wide range of rare entities of mesenchymal origin affecting connective tissues. The extraordinary diversity and rarity of these mesenchymal tumors is reflected in their classification, grading and management which are still challenging. Although they include more than 70 histologic subtypes, the first line-treatment for advanced and metastatic sarcoma has remained unchanged in the last fifty years, excluding specific histotypes in which targeted therapy has emerged. The role of chemotherapy has not been completely elucidated and the outcomes are still very limited. At the beginning of the century, nano-sized particles clinically approved for other solid lesions were tested in these neoplasms but the results were anecdotal and the clinical benefit was not substantial. Recently, a new nanosystem formulation NBTXR3 for the treatment of sarcoma has landed in a phase 2-3 trial. The preliminary results are encouraging and could open new avenues for research in nanotechnology. This review provides an update on the recent advancements in the field of nanomedicine for sarcoma. In this regard, preclinical evidence especially focusing on the development of smart materials and drug delivery systems will be summarized. Moreover, the sarcoma patient management exploiting nanotechnology products will be summed up. Finally, an overlook on future perspectives will be provided

    Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

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    Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically complex disorders
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