Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

La disciplina della contumacia del convenuto nei processi civili dell'Unione Europea. Standard comuni e possibilità di armonizzazioni

The fundamental right to a fair trial depends largely on the service of proceedings on the defendant; it is very important that this communication act informs the defendant of the existence of proceedings against him so that he has the possibility to defend himself in sufficient time. The casuistry shows that difficulties considerably increase when this first service of process has to be effected abroad. Indeed, the most problematic foreign judgments are those issued in absentia of the defendant. The European legislator has paid special attention to the service of the claim and to the default of appearance of the defendant; it has laid down both rules governing the ways in which the service of proceedings must be effected and the procedural treatment of involuntary default, including remedies available for

Environmental accounting and reporting in Italian local governments: a longitudinal analysis of changes in context, content and process

This research aims at contributing to a better understanding of changes in local governments’ accounting and reporting practices. Particularly, ‘why’, ‘what’ and ‘how’ environmental aspects are included and the significance of changes across time. It adopts an interpretative approach to conduct a longitudinal analysis of case studies. Pettigrew and Whipp’s framework on context, content and process is used as a lens to distinguish changes under each dimension and analyse their interconnections. Data is collected from official documents and triangulated with semi-structured interviews. The legal framework defines as boundaries of the accounting information the territory under local governments’ jurisdiction and their immediate surrounding area. Organisational environmental performance and externalities are excluded from the requirements. An interplay between the local outer context, political commitment and organisational culture justifies the implementation of changes beyond what is regulated and the implementation of transformational changes. Local governments engage in international networks to gain access to funding and implement changes, leading to adopting the dominant environmental agenda. Key stakeholders, like citizens, are not engaged in the accounting and reporting process. Thus, there is no evidence that the environmental aspects addressed and related changes align with stakeholders’ needs and expectations, which jeopardises its significance. Findings from the current research have implications in other EU member states due to the harmonisation of accounting and reporting practices and the common practice across the EU in using external funding to conceptualise and implement changes. This implies that other local governments could also be representing a limited account related to environmental aspects.

Le nozioni autonome di diritto europeo nel sistema dell'imposta sul valore aggiunto

Il presente lavoro intende indagare la formulazione di nozioni autonome di diritto europeo nell’ambito dell’imposta sul valore aggiunto elaborate dalla Corte di giustizia. Più specificamente si intende proporre una tassonomia convenzionale delle nozioni autonome, utile alla loro sistematizzazione e miglior comprensione, fondata sulla distinzione fondamentale tra nozioni autonome e nozioni proprie. A questo scopo il lavoro propone un’ampia analisi delle nozioni nella giurisprudenza europea che vengono distinte a seconda che l’obiettivo finale dell’autonomia sia quello di limitare la discrezionalità applicativa degli Stati relativamente a ipotesi derogatorie, nel caso delle nozioni autonome in senso stretto; oppure che l’obiettivo ultimo sia quello di meglio definire l’ambito di applicazione di nozioni fondamentali nella struttura dell’imposta, nel caso delle nozioni proprie. Lo scopo del lavoro è dimostrare che la definizione funzionalistica risponde a obiettivi diversi, accomunati dal fatto di far valere comunque il primato dell'ordinamento europeo. L’analisi e la sistematizzazione proposte possono essere uno strumento utile nell’attuazione, interpretazione e applicazione delle nozioni. In questo senso, il lavoro esamina anche esempi tratti dalle esperienze nazionali che dimostrino, da un lato, che gli interventi della Corte relativi alle nozioni influenzano gli ordinamenti nazionali; dall’altro, che permangono ancora disallineamenti. L’analisi della giurisprudenza europea e dei regimi nazionali, infine, vuole dimostrare che l’elaborazione di nozioni autonome si inserisce nel processo verso un’armonizzazione sempre più incisiva in ambito IVA, di cui è protagonista la Corte di giustizia. Questo processo, cui l’elaborazione di un “tessuto concettuale europeo” contribuisce, comporta una limitazione della discrezionalità degli Stati, e quindi del principio di attribuzione, in nome dell’efficacia e della primazia del diritto europeo.

An efficient Jeans modelling of axisymmetric galaxies with multiple stellar components

Dynamical models of stellar systems represent a powerful tool to study their internal structure and dynamics, to interpret the observed morphological and kinematical fields, and also to support numerical simulations of their evolution. We present a method especially designed to build axisymmetric Jeans models of galaxies, assumed as stationary and collisionless stellar systems. The aim is the development of a rigorous and flexible modelling procedure of multicomponent galaxies, composed of different stellar and dark matter distributions, and a central supermassive black hole. The stellar components, in particular, are intended to represent different galaxy structures, such as discs, bulges, halos, and can then have different structural (density profile, flattening, mass, scale-length), dynamical (rotation, velocity dispersion anisotropy), and population (age, metallicity, initial mass function, mass-to-light ratio) properties. The theoretical framework supporting the modelling procedure is presented, with the introduction of a suitable nomenclature, and its numerical implementation is discussed, with particular reference to the numerical code JASMINE2, developed for this purpose. We propose an approach for efficiently scaling the contributions in mass, luminosity, and rotational support, of the different matter components, allowing for fast and flexible explorations of the model parameter space. We also offer different methods of the computation of the gravitational potentials associated of the density components, especially convenient for their easier numerical tractability. A few galaxy models are studied, showing internal, and projected, structural and dynamical properties of multicomponent galaxies, with a focus on axisymmetric early-type galaxies with complex kinematical morphologies. The application of galaxy models to the study of initial conditions for hydro-dynamical and $N$-body simulations of galaxy evolution is also addressed, allowing in particular to investigate the large number of interesting combinations of the parameters which determine the structure and dynamics of complex multicomponent stellar systems.