Il dato genetico: tra diritti della persona e discriminazione genotipica

La dissertazione, partendo dall’analisi dei dati particolari, dei quali approfondisce il concetto e le norme previste per la disciplina del trattamento, arriva ad una completa ed approfondita analisi dei dati genetici, partendo dal loro inquadramento storico e giungendo sino ad evidenziare la simmetria intercorrente tra gli stessi e il tessuto umano (il campione biologico) che, sotto un profilo squisitamente giuridico, è stato sottoposto al medesimo regime di tutela previsto per il dato genetico. La finalità della definizione dei dati genetici è quella di individuare la loro regolamentazione nell’ambito dell’ordinamento interno nonché ad evidenziare la genesi di tale normazione e, soprattutto, la tecnica utilizzata dall’autorità preposta, che ha inteso recepire (anche se il termine, per taluni atti, è improprio) nell’ambito dell’ordinamento italiano una moltitudine di atti normativi di rango internazione e sovranazionale, succedutisi sin dagli anni immediatamente successivi la fine del secondo conflitto mondiale. Mentre la prima parte della dissertazione commenta la normativa in materia di dati particolari, la seconda parte costituisce un corpo unico finalizzato a rappresentare la doppia faccia dei dati genetici, costituita, da un lato, dalla pericolosità -per i diritti della persona- del loro trattamento e, dall’altro, dalla indispensabilità del trattamento stesso per la tutela della salute dell’uomo, come singolo e come soggetto collettivo. Il lavoro pertanto si inserisce in un contesto in cui la regolamentazione nazionale dei dati genetici pare prima di tutto finalizzata anche alla codificazione di alcune libertà fondamentali fino al 2006 di creazione squisitamente e quasi esclusivamente dottrinale, al più con qualche accenno giurisprudenziale (v. sul punto il diritto di non sapere o, anche se si ritiene che lo stesso sia di fatto stato regolamentato dal Codice in materia di protezione dei dati personali, il diritto all’autodeterminazione informativa) dei quali la tesi in commento individua la chiave regolatrice nell’ambito delle norme contenute nell’Autorizzazione del Garante. L’esame della normativa nazionale, costituita appunto dall’Autorizzazione emanata dal Garante ai sensi dell’art. 90 del Codice è pertanto svolto mediante un commento e, in alcuni punti, una critica costruttiva finalizzata ad evidenziare l’estrema difficoltà nella normazione di un trattamento che, da un lato, rischia di aggredire irrimediabilmente i diritti della persona e dall’altro è indispensabile per la tutela degli stessi.

Valor nutritivo de especies forrajeras endémicas y/o adaptadas a las Islas Canarias: situación de la producción de forrajes para alimentación del ganado en Canarias

Programa de doctorado en Sanidad Animal y Seguridad Alimentaria

Reflexiones sobre el valor actual del gobierno de Baratiaria y la quijotización de Sancho

[ES]En este artículo exploramos el quijotismo que aflora en Sancho Panza al aceptar el trabajo como escudero bajo la promesa del gobierno de la ínsula Barataria. Esta “tierra prometida” se convierte en el objeto de deseo de este rústico campesino que desea adoptar una nueva identidad de la misma manera que su amo deviene un caballero andante bajo la influencia libresca de las caballerías. Se analiza también el valor actual del gobierno de Sancho Panza, con sus aciertos y desaciertos, sus logros y sus dificultades.[EN]In this article we explore the outcropping quixotic Sancho Panza in accepting the job as squire under the government's promise of the island of Barataria. This "promised land" becomes the object of desire of this rustic peasant who wishes to adopt a new identity in the same way that his master becomes a bookish knight under the influence of epic tale. The present value of the government of Sancho Panza, with its successes and failures, achievements and difficulties are also analyzed.

Analisi genetico-molecolare dei linfomi a cellule T periferiche

Molecular profiling of Peripheral T-cell lymphomas not otherwise specified Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of tumors that the WHO classification basically subdivides into specified and not otherwise specified (NOS). In Western countries, they represent around 12% of all non-Hodgkin's lymphomas. In particular, PTCL/NOS is the commonest subtype, corresponding to about 60-70% of all T-cell lymphomas. However, it remains a complex entity showing great variety regarding either morphology, immunophenotype or clinical behavior. Specially, the molecular pathology of these tumors is still poorly known. In fact, many alteration were found, but no single genes were demonstrated to have a pathogenetic role. Recently, gene expression profiling (GEP) allowed the identification of PTCL/NOS-associated molecular signatures, leading to better understanding of their histogenesis, pathogenesis and prognostication. Interestingly, proliferation pathways are commonly altered in PTCLs, being highly proliferative cases characterized by poorer prognosis. In this study, we aimed to investigate the possible role in PTCL/NOS pathogenesis of selected molecules, known to be relevant for proliferation control. In particular, we analyzed the cell cycle regulators PTEN and CDKN1B/p27, the NF-kB pathway, and the tyrosin kinase PDGFR. First, we found that PTEN and p27 seem to be regulated in PTCL/NOS as in normal T-lymphocytes, as to what expression and cellular localization are concerned, and do not present structural abnormalities in the vast majority of PTCL/NOS. Secondly, NF-kB pathway appeared to be variably activated in PTCL/NOS. In particular, according to NF-kB gene expression levels, the tumors could be divided into two clusters (C1 and C2). Specially, C1 corresponded to cases presenting with a global down-regulation of the entire pathway, while C2 showed over-expression of genes involved in TNF signaling. Notably, by immunohistochemistry, we showed that either the canonical or the alternative NK-kB pathway were activated in around 40% of cases. Finally, we found PGDFRA to be consistently over-expressed (at mRNA and protein level) and activated in almost all PTCLs/NOS. Noteworthy, when investigating possible causes for PDGFRA deregulation, we had evidences that PDGFR over-expression is due to the absence of miR-152, which appeared to be responsible for PDGFRA silencing in normal T-cells. Furthermore, we could demonstrate that its aberrant activation is sustained by an autocrine loop. Importantly, this is the first case, to the best of our knowledge, of hematological tumor in which tyrosin kinase aberrant activity is determined by deregulated miRNA expression and autocrine loop activation. Taken together, our results provide novel insight in PTCL/NOS pathogenesis by opening new intriguing scenarios for innovative therapeutic interventions.

Studio genetico ed epidemiologico su Erysiphe necator agente eziologico dell'Oidio della vite

The objective was to analyse population structure and to determine genetic diversity of Erysiphe necator (syn. Uncinula necator) populations obtained from some vineyards located in the South-East Po valley (Italy). Powdery mildew is one of the most important fungal diseases of grapes (Vitis vinifera L.) throughout the world. The causal agent is the haploid, heterothallic ascomycete E. necator. It is an obligate biotrophic fungus and it can be found only on green organs of plants belonging to the family Vitaceae. For this pathogen, two sympatric populations (groups A and B) have been described in Europe and Australia. The two genetic groups differ at multiple genetic loci and previous studies reported a lack of interfertility among isolates of the two groups. There are now several well documented examples of plant pathogen species, such as Leptosphaeria maculans, Gaeumannomyces graminis var. tritici, Botrytis cinerea and Erysiphe syringae, which are indeed composed of genetically differentiated clades, that have led to the description of new groups or even new species. Several studies have suggested that genetic E. necator group A and B correlated with ecological features of the pathogen; some researchers proposed that group A isolates over-winter as resting mycelium within dormant buds, and in spring originate infected shoots, known as Flag shoots, while group B isolates would survive as ascospores in overwintering cleistothecia. However, the association between genetic groups and mode of over-wintering has been challenged by recent studies reporting that flag-shoot may be originated indifferently by group A or group B isolate. Previous studies observed a strong association between the levels of disease severity at the end of the growing season and the initial compositions of E. necator populations in commercial vineyards. The frequencies of E. necator genetic groups vary considerably among vineyards, and the two groups may coexist in the same vineyard. This finding suggests that we need more information on the genetics and epidemiology of E. necator for optimize the crop management In this study we monitored E. necator populations in different vineyards in Emilia – Romagna region (Italy), where the pathogen overwinters both as flagshoots and as cleistothecia. During the grape growing season, symptomatic leaves were sampled early in the growing season and both leaves and berries later during the epidemic growth of the disease. From each sample, single-conidial isolate was obtained. Each isolates was grown on V. vinifera leaf cv. Primitivo and after harvesting the mycelium, the DNA was purified and used as template for PCR amplification with SCAR primers (Sequences Characterised Amplified Region ), -tubulin, IGS sequences and Microsatellite markers (SSR). Amplified DNA from b-tubulin and IGS loci was digested with AciI and XhoI restriction enzymes, respectively, to show single-nucleotide polymorphisms specific for the two genetic groups. The results obtained indicated that SCAR primers are not useful to study the epidemiology. of E. necator conversely the b-tubulin IGS sequences and SSR. Summarize the results obtained with b-tubulin, IGS sequences, in treated vineyards we have found individuals of group B along all grape growing season, whereas in the untreated vineyard individuals of the two genetic groups A and B coexisted throughout the season, with no significant change of their frequency. DNA amplified from ascospores of single cleistothecia showed the presence of markers diagnostic for either groups A and B and were seldom observed also the coexistence of both groups within a claistothecium. These results indicate that individuals of the two groups mated in nature and were able to produced ascospores. With SSR we showed the possibility of recombination between A and B groups in field isolates. During winter, cleistothecia were collected repeatedly in the same vineyards sampling leaves fallen on ground, exfoliating bark from trunks, and from soil. From each substrate, was assess the percentage of cleistothecia containing viable ascospores. Our results confirmed that cleisthotecia contained viable ascospores, therefore they have the potential to be an additional and important source of primary inoculum in Emilia-Romagna vineyards.

Valutazione dell'impatto della farmacogenetica in ambito di Sanità Pubblica. Analisi del polimorfismo genetico dell'enzima CYP2D6 metabolizzante xenobiotici.

Pharmacogenetic testing provides an outstanding opportunity to improve prescribing safety and efficacy. In Public health policy pharmacogenetics is relevant for personalized therapy and to maximize therapeutic benefit minimizing adverse events. CYP2D6 is known to be a key enzyme responsible for the biotransformation of about 25-30% of extensively used drugs and genetic variations in genes coding for drug-metabolizing enzymes might lead to adverse drug reactions, toxicity or therapeutic failure of pharmacotherapy. Significant interethnic differences in CYP2D6 allele distribution are well established, but immigration is reshaping the genetic background due to interethnic admixture which introduces variations in individual ancestry resulting in distinct level of population structure. The present thesis deals with the genetic determination of the CYP2D6 alleles actually present in the Emilia-Romagna resident population providing insights into the admixture process. A random sample of 122 natives and 175 immigrants from Africa, Asia and South America where characterized considering the present scenario of migration and back migration events. The results are consistent with the known interethnic genetic variation, but introduction of ethnic specific variants by immigrants predicts a heterogeneous admixed population scenario requiring, for drugs prescription and pharmacogenetics studies, an interdisciplinary approach applied in a properly biogeographical and anthropological frame. To translate pharmacogenetics knowledge into clinical practice requires appropriated public health policies, possibly guiding clinicians to evaluate prospectively which patients have the greatest probability of expressing a variant genotype.

Sintesi e caratterizzazione di polimeri anfifilici per il trasporto di materiale genetico

In questo lavoro sono stati sintetizzati dei copolimeri anfifilici random per il trasporto di materiale genetico. Si è partiti dalla sintesi di poli (glicidil metacrilato) mediante tecnica RAFT (Reversible Addition-Fragmentation chain Transfer), con il fine di ottenere un polimero con una distribuzione del peso molecolare ben definita. Il trattamento del polimero con un opportuno nucleofilo fornisce un materiale con caratteristiche differenti da quelle di partenza, con l’ottenimento di un polimero solubile in acqua. Altri trattamenti di funzionalizzazione con gruppi lipofili hanno fornito un materiale (copolimero random) anfifilico in grado di autoassemblarsi in acqua con formazione di micelle. Si è dimostrato che le micelle hanno un’interazione con del materiale genetico. I polimeri sono stati infine funzionalizzati con degli agenti fluorescenti.

Un algoritmo genetico parallelo per la k-colorabilità

Implementazione mediante librerie MPI di un algoritmo genetico parallelo per risolvere il problema sulla k-colorabilità. La tesi descrive la versione sequenziale dell'algoritmo genetico di riferimento e l'implementazione della sua versione parallela. Vi è una fase di analisi dei risultati ottenuti dai test effettuati su una macchina ad architettura parallela.

El valor estructural de la magia en el universo pastoril de Lope de Vega

The different aspects of magic became an essential ingredient of bucolic universe since the origin of pastoral genre. Within an idealized and utopic frame, magic built a bridge towards transcendence, and balanced the disharmony created by human love emotions within Arcadian microcosm. This concept of magic became infused to Sixteenth century pastoral novel through Neoplatonism and Hermetic tradition. From a narratological point of view, magic episodes became indispensable to complete the philosophical meaning of the works. Lope de Vega, in La Arcadia, published in 1598, fully participated from this tradition, though he will approach the convention from a particular dramatic-like perspective. And it was precisely in pastoral comedias where the Fénix ends up deconstructing bucolic code to remodel it as a mere vestige of the tradition and treat magic as a humorous ingredient.

Lenguaje y valor en los escritos de Augusto Salazar Bondy (1965 - 1970)

Se examinan los escritos axiológicos de Augusto Salazar Bondy producidos entre 1965 y 1970, en los que predomina el análisis del lenguaje como criterio epistemológico y metodológico. Se señala el aprovechamiento de la metodología analítica por parte del peruano, así como los aspectos en que se separa de la filosofía moral británica y del primer Wittgenstein. Se consideran los aportes en relación a la caracterización de la experiencia del valor, el sentido del lenguaje valorativo y la fundamentación de los valores. Se destaca, para concluir, la concepción de los valores como categorías del obrar y la historicidad de la experiencia valorativa.