206 research outputs found
Iconoclastie. Il blu di Derek Jarman
Starting with the monochrome film Blue by British director Derek Jarman, the essay explores the implications of a vision that has as its object an always identical field of colour. In particular, the transformation of the function of the spectator and the dimension of existence and dying as unrepresentable are highlighted
An unusual delusion of duplication in a patient affected by Dementia with Lewy bodies
Background: Dementia with Lewy bodies (DLB) is the second most frequent diagnosis of progressive degenerative dementia in older people. Delusions are common features in DLB and, among them, Capgras syndrome represents the most frequent disturbance, characterized by the recurrent and transient belief that a familiar person, often a close family member or caregiver, has been replaced by an identical-looking imposter. However, other delusional conditions near to misidentification syndromes can occur in DLB patients and may represent a major psychiatric disorder, although rarely studied systematically. Case presentation: We reported on a female patient affected by DLB who presented with an unusual delusion of duplication. Referring to the female professional caregiver engaged by her relatives for her care, the patient constantly described the presence of two different female persons, with a disorder framed in the context of a delusion of duplication. A brain 99Tc-hexamethylpropyleneamineoxime SPECT was performed showing moderate hypoperfusion in both occipital lobes, and associated with marked decreased perfusion in parieto-fronto-temporal lobes bilaterally. Conclusions: An occipital hypoperfusion was identified, although in association with a marked global decrease of perfusion in the remaining lobes. The role of posterior lobes is certainly important in all misidentification syndromes where a natural dissociation between recognition and identification is present. Moreover, the concomitant presence of severe attentional and executive deficits evocative for a frontal syndrome and the marked global decrease of perfusion in the remaining lobes at the SPECT scan also suggest a possible dysfunction in an abnormal connectivity between anterior and posterior areas
Whole genome amplification and real-time PCR in forensic casework
<p>Abstract</p> <p>Background</p> <p>WGA (Whole Genome Amplification) in forensic genetics can eliminate the technical limitations arising from low amounts of genomic DNA (gDNA). However, it has not been used to date because any amplification bias generated may complicate the interpretation of results. Our aim in this paper was to assess the applicability of MDA to forensic SNP genotyping by performing a comparative analysis of genomic and amplified DNA samples. A 26-SNPs TaqMan panel specifically designed for low copy number (LCN) and/or severely degraded genomic DNA was typed on 100 genomic as well as amplified DNA samples.</p> <p>Results</p> <p>Aliquots containing 1, 0.1 and 0.01 ng each of 100 DNA samples were typed for a 26-SNPs panel. Similar aliquots of the same DNA samples underwent multiple displacement amplification (MDA) before being typed for the same panel. Genomic DNA samples showed 0% PCR failure rate for all three dilutions, whilst the PCR failure rate of the amplified DNA samples was 0% for the 1 ng and 0.1 ng dilutions and 0.077% for the 0.01 ng dilution. The genotyping results of both the amplified and genomic DNA samples were also compared with reference genotypes of the same samples obtained by direct sequencing. The genomic DNA samples showed genotype concordance rates of 100% for all three dilutions while the concordance rates of the amplified DNA samples were 100% for the 1 ng and 0.1 ng dilutions and 99.923% for the 0.01 ng dilution. Moreover, ten artificially-degraded DNA samples, which gave no results when analyzed by current forensic methods, were also amplified by MDA and genotyped with 100% concordance.</p> <p>Conclusion</p> <p>We investigated the suitability of MDA material for forensic SNP typing. Comparative analysis of amplified and genomic DNA samples showed that a large number of SNPs could be accurately typed starting from just 0.01 ng of template. We found that the MDA genotyping call and accuracy rates were only slightly lower than those for genomic DNA. Indeed, when 10 pg of input DNA was used in MDA, we obtained 99.923% concordance, indicating a genotyping error rate of 1/1299 (7.7 Ă— 10<sup>-4</sup>). This is quite similar to the genotyping error rate of STRs used in current forensic analysis. Such efficiency and accuracy of SNP typing of amplified DNA suggest that MDA can also generate large amounts of genome-equivalent DNA from a minimal amount of input DNA. These results show for the first time that MDA material is suitable for SNP-based forensic protocols and in general when samples fail to give interpretable STR results.</p
In silico and in vitro comparative analysis to select, validate and test SNPs for human identification
<p>Abstract</p> <p>Background</p> <p>The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results.</p> <p>Results</p> <p>In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous <it>in silico </it>selection of these markers provided a list of SNPs with very constant frequencies across the populations tested as demonstrated by the F<sub>st </sub>values. Furthermore, these SNPs also showed a high specificity for the human genome (only 5 SNPs gave positive results when amplified in non-human DNA).</p> <p>Conclusion</p> <p>Comparison between <it>in silico </it>and <it>in vitro </it>analysis showed that current SNPs databases can efficiently improve and facilitate the selection of markers because most of the analyses performed (F<sub>st</sub>, r<sup>2</sup>, heterozigosity) in more than 1,000 samples confirmed available population data.</p
Nach der Sammlung
Il contributo analizza il valore dei tre concetti collezione, possesso, propriet\ue0
Memorie dei senzanome
Ci sono storie che appaiono all'improvviso, per riconsegnarsi subito dopo alla latenza da cui sono emerse. Sono le storie delle vite sommerse, dei naufragi, di tutti gli squarci che si aprono sulla facciata di un'epoca. Eventi come il sollevamento popolare contro il muro di Berlino o le rivolte nelle periferie di tutto il mondo mantengono, da qualsiasi parte li si guardi, un carattere sfuggente, inafferrabile. Per inapparenti e marginali che possano apparire, per residuale che possa sembrare la loro istanza, per quanto sembrino non risolversi altrimenti che in una sconfitta, sono proprio eventi di questo tipo a costituire la condizione fondamentale del nostro stare in comune. Ci\uf2 che di ogni singola vita resta senzanome, costella il presente e preannuncia un avvenire incerto e insieme prossimo
renovatio (Ernst Kantorowicz)
Si tratta di una disamina critica del concetto di Roma all'interno dell'accezione novecentesca di Europ
Circo(i)cidere vuol dire: essere assegnati alla curva
Il testo si interroga sul valore fondante del taglio per il corpo nella filosofia contemporanea
Esigenza
Il saggio sviluppa la centralit\ue0 della nozione di esigenza all'interno della riflessione etica contemporanea sulla responsabilit\ue
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