Search results for " ENaC"
showing 10 items of 16 documents
Il neonato che “sa di sale”
2021
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two forms of the disease - renal and systemic – have been described, which are genetically distinct and with wide clinical expressivity. The most severe generalized PHA1 is caused by mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC). The paper reports the case of a newborn of the first pregnancy of healthy and consanguineous Sicilian parents, with a clinical and hormonal pic…
Considerazioni sull’ammissibilità delle leggi- provvedimento: il caso del finanziamento del Teatro Eliseo al vaglio della Corte costituzionale
2021
This paper examins the admissibility of so-called “leggi-provvedimento”, taking the cue from the effect of the national legislative provision, which recognizes eight million euro for biennium 2017-2018 to the Roman Teatro Eliseo, and which was recently submitted to the Italian Constitutional Court. This essay examins the responsibility of national legislature for adopting damaging legislative measure.
Extensive molecular analysis of patients bearing CFTR-related disorders.
2012
Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…
Coordinated Interpersonal Behaviour in Collective Dance Improvisation: The Aesthetics of Kinaesthetic Togetherness
2018
International audience; Collective dance improvisation (e.g., traditional and social dancing, contact improvisation) is a participatory, relational and embodied art form which eschews standard concepts in aesthetics. We present our ongoing research into the mechanisms underlying the lived experience of "togetherness" associated with such practices. Togetherness in collective dance improvisation is kinaesthetic (based on movement and its perception), and so can be simultaneously addressed from the perspective of the performers and the spectators, and be measured. We utilise these multiple levels of description: the first-person, phenomenological level of personal experiences, the third-perso…
Brancati su Pirandello e il pirandellismo
2019
Nel romanzo breve "Sogno di un valzer" uscito a puntate su “Quadrivio”, dal 5 giugno al 14 agosto 1938, Vitaliano Brancati mette in scena, tra osservazione dei luoghi e rilevamento di costume, un’umanità fuori misura, continuamente in bilico tra realtà e sogno. A Caltanissetta (Nissa) la città nel cui Istituto magistrale lo scrittore, voltate le spalle alla Roma fascista, è venuto a insegnare, personaggi non appariscenti, insignificanti, che tuttavia covano desideri, si arrovellano in domande metafisiche. Prende così forma il leitmotiv delle critica al pirandellismo che più volte con ironia sottile affiora negli scritti brancatiani. Il saggio mostra come esso si intrecci con la comicità sul…
A New, Better BET: Rescuing and Revising Basic Emotion Theory
2018
Basic Emotion Theory, or BET, has dominated the affective sciences for decades (Ekman, 1972, 1992, 1999; Ekman and Davidson, 1994; Griffiths, 2013; Scarantino and Griffiths, 2011). It has been highly influential, driving a number of empirical lines of research (e.g., in the context of facial expression detection, neuroimaging studies and evolutionary psychology). Nevertheless, BET has been criticized by philosophers, leading to calls for it to be jettisoned entirely (Colombetti, 2014; Hufendiek, 2016). This paper defuses those criticisms. In addition, it shows that we have good reason to retain BET. Finally, it reviews and puts to rest worries that BET's commitment to affect programs render…
Understanding Human-Technology Relations Within Technologization and Appification of Musicality
2020
In this paper, we outline a theoretical account of the relationship between technology and human musicality. An enactive and biocultural position is adopted that assumes a close coevolutionary relationship between the two. From this position, we aim at clarifying how the present and emerging technologies, becoming embedded and embodied in our lifeworld, inevitably co-constitute and transform musical practices, skills, and ways of making sense of music. Therefore, as a premise of our scrutiny, we take it as a necessity to more deeply understand the ways that humans become affiliated to the ever-changing instruments of music technology, in order to better understand the coevolutionary impact …
The silent work of speech. On an Enactive Grammar’s Insight
2019
Many research programs have been worked out in recent years in order to account for an apparently trivial aspect of the human language activity. We refer to the fact that every speaker hears the sound of his own words. Our paper aims to embed this empirical insight in the theoretical framework of the so-called enactive grammar. This choice is justified by the fact that the enactive grammar introduced a formal distinction which allows to provide a clear formulation of the jakobsonian assert. In order to highlight this point, the paper will be subdivided into seven sections. The first section will be devoted to the experience of the hearing oneself speak. The second one will examine this expe…
Effectuating Person-Organization Fit : Effectuation in Organizations
2015
Industrial policies of innovation concentrate on funding or encouraging promising innovations entailing growth or that have possibilities of internationalization. However, concrete innovation process happens in and between individuals. Effectuation is a logic that is emergent and iterative in nature. It develops through enactment and trial-and-error processes that follow deep expertise, contextual experience and abilities to leverage contingencies. Harnessing individuals to challenge their working environment to function better may improve both work well-being and organization performance. The integration of person-organization fit and effectuation suggest that paying attention to effectuat…
Diagrammatic Gestures. Cognition, Mathematics, and Semiotics.
2021
here are words having an extraordinary evocative power. This is precisely the case of “Diagram” and “Gesture”. The frst term covers an interconnected network of concepts like “graph”, “schema”, “form”, “model”, “arrow”, and so on... And the same can be said of the second one: just think, for example, of the ideas of “movement”, “bodily action”, “practical activity” or, more generally, of “doing”. Accounting for them has been, over the last 50 years, the aim of signifcant portions of the work conduction in philosophy (Deleuze, Foucault, Merleau-Ponty), mathematics (Grothendieck, Lawvere, Thom), semiotics (Peirce), and theoretical linguistics (Culioli, Langacker, Pottier). The present issue a…