3 resultados para Family-based association

em AMS Tesi di Dottorato - Alm@DL - Università di Bologna


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La tesi di Matteo Allodi intende analizzare alcune pratiche socio-assistenziali rivolte a minori e famiglie in difficoltà relative a progetti di accoglienza presso alcune strutture residenziali. In particolare, Matteo Allodi si sofferma su progetti di accoglienza elaborati presso alcune Comunità familiari la cui metodologia d’intervento si caratterizza per un orientamento verso un modello di lavoro sociale di tipo sussidiario nell’ottica del recupero dei legami e delle competenze genitoriali. La tesi affronta nella prima parte la dimensione teorica relativa a un approccio progettuale di intervento sociale che, mettendo al centro le relazioni dei soggetti in gioco, possa promuovere la loro attivazione in funzione della realizzazione dell’obiettivo del recupero della genitorialità. Allodi si concentra dal punto di vista teorico sulle modalità di realizzazione di un servizio alla persona guidato dal principio di sussidiarietà, ovvero orientato alla valorizzazione delle capacità riflessive degli attori. Nella seconda, parte Allodi presenta l’indagine condotta in alcune Comunità di tipo familiare di Parma. La strategia iniziale d’indagine è quella del case study. Allodi sceglie di indagare il fenomeno partendo da un’osservazione partecipata di orientamento etnometodologico integrata con interviste agli attori privilegiati. In questa fase si è proceduto a una prima ricerca qualitativa, attraverso la metodologia dello studio di caso, che ha permesso di entrare in contatto con alcune tipologie di strutture residenziali per minori al fine di completare il quadro generale del fenomeno delle Comunità familiari e impostare una prima mappatura esplorativa. La ricerca prosegue con uno studio longitudinale prospettico volto a monitorare e valutare il lavoro di rete della comunità e dei servizi, osservando principalmente la mobilitazione verso l’autonomia e l’empowerment dei soggetti (minori) e delle reti ancorate al soggetto (single case study). Si è voluto comprendere quali modalità relazionali gli attori della rete di coping mettono in gioco in funzione del “cambiamento sociale”.

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Persons affected by Down Syndrome show a heterogeneous phenotype that includes developmental defects and cognitive and haematological disorders. Premature accelerated aging and the consequent development of age associated diseases like Alzheimer Disease (AD) seem to be the cause of higher mortality late in life of DS persons. Down Syndrome is caused by the complete or partial trisomy of chromosome 21, but it is not clear if the molecular alterations of the disease are triggered by the specific functions of a limited number of genes on chromosome 21 or by the disruption of genetic homeostasis due the presence of a trisomic chromosome. As epigenomic studies can help to shed light on this issue, here we used the Infinium HumanMethilation450 BeadChip to analyse blood DNA methylation patterns of 29 persons affected by Down syndrome (DSP), using their healthy siblings (DSS) and mothers (DSM) as controls. In this way we obtained a family-based model that allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors. We showed that defects in DNA methylation map in genes involved in developmental, neurological and haematological pathways. These genes are enriched on chromosome 21 but localize also in the rest of the genome, suggesting that the trisomy of specific genes on chromosome 21 induces a cascade of events that engages many genes on other chromosomes and results in a global alteration of genomic function. We also analysed the methylation status of three target regions localized at the promoter (Ribo) and at the 5’ sequences of 18S and 28S regions of the rDNA, identifying differently methylated CpG sites. In conclusion, we identified an epigenetic signature of Down Syndrome in blood cells that sustains a link between developmental defects and disease phenotype, including segmental premature aging.

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The aim of this work is to contribute to the development of new multifunctional nanocarriers for improved encapsulation and delivery of anticancer and antiviral drugs. The work focused on water soluble and biocompatible oligosaccharides, the cyclodextrins (CyDs), and a new family of nanostructured, biodegradable carrier materials made of porous metal-organic frameworks (nanoMOFs). The drugs of choice were the anticancer doxorubicin (DOX), azidothymidine (AZT) and its phosphate derivatives and artemisinin (ART). DOX possesses a pharmacological drawback due to its self-aggregation tendency in water. The non covalent binding of DOX to a series of CyD derivatives, such as g-CyD, an epichlorohydrin crosslinked b-CyD polymer (pb-CyD) and a citric acid crosslinked g-CyD polymer (pg-CyD) was studied by UV visible absorption, circular dichroism and fluorescence. Multivariate global analysis of multiwavelength data from spectroscopic titrations allowed identification and characterization of the stable complexes. pg-CyD proved to be the best carrier showing both high association constants and ability to monomerize DOX. AZT is an important antiretroviral drug. The active form is AZT-triphosphate (AZT-TP), formed in metabolic paths of low efficiency. Direct administration of AZT-TP is limited by its poor stability in biological media. So the development of suitable carriers is highly important. In this context we studied the binding of some phosphorilated derivatives to nanoMOFs by spectroscopic methods. The results obtained with iron(III)-trimesate nanoMOFs allowed to prove that the binding of these drugs mainly occurs by strong iono-covalent bonds to iron(III) centers. On the basis of these and other results obtained in partner laboratories, it was possible to propose this highly versatile and “green” carrier system for delivery of phosphorylated nucleoside analogues. The interaction of DOX with nanoMOFs was also studied. Finally the binding of the antimalarial drug, artemisinin (ART) with two cyclodextrin-based carriers,the pb-CyD and a light responsive bis(b-CyD) host, was also studied.