VECCHIE INSIDIE E NUOVI PERICOLI ASSEDIANO LA “CITTADELLA” DEL CONTRADDITTORIO PER LA PROVA

The undisputed progress made, at regulatory level, in the use of adversarial model in the criminal evidence formation — which is also a basic principle laid down in the Italian Constitution — should not make it be considered as an achievement made once and for all. On the contrary, the reflection shall be kept on the issue, for the purpose of both refining its operational dynamics and the effective fine-tuning of safeguards against ancient concerns and new dangers

Arquivamento de dados genéticos com finalidades penais: interesses em jogo, regulações europeias e soluções adotadas pelo legislador italiano

For any legal system, having a genetic database for the purposes of criminal justice represents an unavoidable but particularly delicate challenge. Unavoidable, because storing DNA profiles that belong to a given subjective population for computer comparison means providing investigators with resources of undeniable probative value. Particularly delicate, as the choices that determine the acquisition, conservation and consultation of genetically significant data generate the impact of the “biologisation of security†on so-called informational privacy, namely the right of the individual to check information that regards his/her personal sphere, defined by article 8 of the European Convention for the Protection of Human Rights and Fundamental Freedoms.In Italy, the DNA database has recently become operational, following a laborious legislative procedure. This contribution sets out to analyse the technical and value-related bases for law no. 85 of 2009 and the provisions for its introduction. It also proposes to assess this law’s capacity to ensure an adequate balance between contrasting interests that keep within the parameters of reasonableness and proportionality, as well as being in congruence with the jurisprudence of the European Court of Human Rights. It is only on these conditions that the sacrifice required of “genetic privacy†for the pursuit of the aims of criminal justice could be deemed culturally and socially acceptable, as well as juridically legitimate. Indeed, there is no doubt that the collective demand for security has become progressively more insistent, also in view of the growth of terrorism. Just as undeniable, however, is the public’s growing sensitivity towards the various aspects of personal confidentiality, especially regarding a genetic heritage that is now seen as a mark of subjective individuality. No modern law system can thus avoid the task of making technology an ally of privacy, especially in the ambit of criminal justice.Dotarsi di un database dei dati genetici a fini di giustizia penale rappresenta per qualsiasi ordinamento una sfida ineludibile, ma di particolare delicatezza. Ineludibile, perché immagazzinare profili del dna appartenenti a una determinata platea soggettiva in vista della comparazione automatizzata mediante procedure informatiche significa mettere a disposizione degli inquirenti risorse di innegabile rilevanza probatoria. Particolarmente delicata, in quanto dalle scelte che governano acquisizione, conservazione e consultazione di dati geneticamente significativi dipende l’impatto che la “biologizzazione della sicurezza†è destinata a produrre sulla c.d. informational privacy, intesa come diritto dell’individuo al controllo delle informazioni riguardanti la propria sfera personale, tutelata dall’art. 8 della Convenzione europea per la salvaguardia dei diritti dell’uomo e delle libertà fondamentali. In Italia, la banca dati del dna è divenuta operativa soltanto di recente, al termine di un faticoso percorso legislativo. Il contributo si propone di analizzare le scelte tecniche e valoriali operate dalla legge n. 85 del 2009 e dei provvedimenti di attuazione, verificandone la capacità di assicurare un bilanciamento tra gli interessi in contrasto conforme ai parametri di ragionevolezza e proporzionalità e la sintonia con le indicazioni della giurisprudenza della Corte europea dei diritti dell’uomo. Soltanto a queste condizioni il sacrificio richiesto alla “privacy genetica†per il perseguimento degli scopi di giustizia penale può risultare culturalmente e socialmente accettabile, oltre che giuridicamente legittimo. Non c’è dubbio, infatti, che la domanda collettiva di sicurezza sia divenuta progressivamente più insistente, anche per il diffondersi del fenomeno terroristico; altrettanto innegabilmente, però, si è acuita la sensibilità collettiva verso le differenti declinazioni della riservatezza personale, in special modo nei confronti di un patrimonio genetico ormai percepito come marchio dell’individualità soggettiva. Nessun ordinamento moderno, dunque, può sottrarsi al compito di rendere la tecnologia alleata della privacytanto quanto della giustizia penale. Criar um banco de dados genéticos com finalidades penais representa para qualquer ordenamento um desafio inevitável e, contemporaneamente, muito delicado. É inevitável porque armazenar perfis de DNA pertencentes a um determinado grupo de sujeitos para realizar uma comparação automatizada mediante procedimentos informáticos significa disponibilizar aos órgãos investigativos informações de inegável relevância probatória. Particularmente delicada pois em razão das escolhas que governam a colheita, conservação e consulta de dados genéticos relevantes depende o impacto que a “biologização da segurança†finda por produzir em relação à denominada informational privacy, ou seja, o direito do indivíduo ao controle das informações relativas à própria esfera pessoal, tutelado pelo art. 8 da Convenção Europeia dos direitos humanos. Na Itália, o banco de dados do DNA tornou-se operativo somente recentemente, após um percurso legislativo demasiadamente tormentoso. Neste artigo serão analisadas as escolhas técnicas e valorativas efetuadas pela Lei n. 85 de 2009 e pelas regulamentações de atuação, verificando a sua capacidade de assegurar um balanceamento entre os interesses em jogo em contraste conforme os parâmetros de razoabilidade e proporcionalidade e a sintonia com as indicações da jurisprudência do Tribunal europeu dos direitos humanos. Somente se atendidas tais condições, o sacrifício imposto à “privacidade genética†para o alcance dos objetivos de justiça penal pode ser considerado culturalmente e socialmente aceitável, além de juridicamente legítimo. De fato, não há dúvidas de que o clamor coletivo por segurança se tornou progressivamente mais insistente, especialmente pela difusão do fenômeno do terrorismo. Não obstante, é também inegável que a sensibilidade coletiva se tornou mais atenta em relação às diferentes declinações na privacidade pessoal, e, em particular, ao patrimônio genético agora percebido como marca da individualidade subjetiva. Nenhum ordenamento moderno, portanto, pode subtrair-se à tarefa de tornar a tecnologia uma aliada da privacidade tanto quanto da justiça penal

L’archiviazione dei dati genetici a fini di giustizia penale: gli interessi in gioco, le prescrizioni europee, le soluzioni adottate dal legislatore italiano = Storage of genetic data for criminal justice purposes: interests at stake, European regulations, solutions adopted by Italian lawmakers = Arquivamento de dados genéticos com finalidades penais: interesses em jogo, regulações europeias e soluções adotadas pelo legislador italiano

Aborda o desafio de se criar um banco de dados genéticos com finalidades penais e suas implicações. Informa que o banco de dados do DNA tornou-se operativo na Itália somente recentemente, após um percurso legislativo demasiadamente tormentoso. Enfatiza as escolhas técnicas e valorativas efetuadas pela legislação italiana ao se tratar de um assunto tão sensível

Obsessive-compulsive disorder and related disorders: a comprehensive survey

Our aim was to present a comprehensive, updated survey on obsessive-compulsive disorder (OCD) and obsessive-compulsive related disorders (OCRDs) and their clinical management via literature review, critical analysis and synthesis

HER2-Driven Carcinogenesis: New Mouse Models for Novel Immunotherapies

HER2 overexpression is a hallmark of aggressive breast cancer subtypes, and HER2-targeted therapies, such as passive immunotherapy with the humanized monoclonal antibody Trastuzumab, have become standard treatments for these tumor subtypes. However, increasing evidence points to a major role for the Δ16HER2 splice variant, which is commonly coexpressed with the wild-type protein, in cancer progression, metastatic potential and resistance to Trastuzumab treatment. Using our recently derived mouse strain transgenically expressing human Δ16HER2 under the transcriptional control of the MMTV promoter, we showed that this HER2 isoform per se can transform mammary epithelium in vivo. Thus, Δ16HER2 mice provide a new preclinical model in which to study mammary carcinogenesis and the metastatic process, as well as new therapies, including immune-based DNA vaccines. Such vaccines, by virtue of the polyclonal response they induce, might synergize with standard treatments and might ensure targeting of HER2 variants no longer recognized by monoclonal antibodies. In addition, immunological memory might provide long-term anticancer immune protection without side effects associated with many conventional therapies. The efficacy of DNA vaccination against the HER2 oncoantigen has been widely demonstrated in BALB-neuT mice transgenically expressing the activated rat neu oncogene and recapitulating several features of human breast cancers; however, HER2 is a self-tolerated molecule and an effective response to it must circumvent tolerance mechanisms. Here, we retrace the findings that have led to our most promising DNA vaccines encoding human/rat chimeric forms of the HER2 molecule bearing both xenogeneic and syngeneic portions of the protein and able to overcome peripheral tolerance. Preclinical data obtained with our DNA vaccines have provided the rationale for their use in an ongoing phase I clinical trial

Microglial extracellular vesicles induce Alzheimer’s diseaserelated cortico-hippocampal network dysfunction.

β-Amyloid is one of the main pathological hallmarks of Alzheimer’s disease and plays a major role in synaptic dysfunction. It has been demonstrated that β-amyloid can elicit aberrant excitatory activity in cortical-hippocampal networks, which is associated with behavioural abnormalities. However, the mechanism of the spreading of β-amyloid action within a specific circuitry has not been elucidated yet. We have previously demonstrated that the motion of microglia-derived large extracellular vesicles carrying β-amyloid, at the neuronal surface, is crucial for the initiation and propagation of synaptic dysfunction along the entorhinal–hippocampal circuit. Here, using chronic EEG recordings, we show that a single injection of extracellular vesicles carrying β-amyloid into the mouse entorhinal cortex could trigger alterations in the cortical and hippocampal activity that are reminiscent of those found in Alzheimer’s disease mouse models and human patients. The development of EEG abnormalities was associated with progressive memory impairment as assessed by an associative (object-place context recognition) and non-associative (object recognition) task. Importantly, when the motility of extracellular vesicles, carrying β-amyloid, was inhibited, the effect on network stability and memory function was significantly reduced. Our model proposes a new biological mechanism based on the extracellular vesicles–mediated progression of β-amyloid pathology and offers the opportunity to test pharmacological treatments targeting the early stages of Alzheimer’s disease

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Abstract Objective Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. Case Report We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13 th weeks of gestation after 1 st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17 th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. Conclusion New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p)