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Luciano Garofano

Publications and source records attributed to Luciano Garofano.

3 recordsLinked to original sources

Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets.

High-grade gliomas (HGGs) in children and adolescents and young adults (AYA) exhibit distinct biology across the neurodevelopmental spectrum. To dissect tumor-intrinsic molecular characteristics independent of developmental variation, we perform comprehensive proteogenomic analyses of tumors from 112 HGG patients aged 0-40 years. Our multi-omics analysis identifies two AYA subgroups-adolescents (aged 15-26 years) and young adults (aged 26-40 years)-with distinct molecular profiles and survival outcomes. Tumor-normal comparisons and survival modeling highlight roles of oxidative phosphorylation and neuronal system biology in glioma progression. Causal network analysis and cell line studies provide a rationale for personalized therapies targeting candidate kinases, such as CDK8. Survival modeling, clustering, and immune-landscape analyses identify proteins, post-translational modifications, and immune signatures linked to outcomes and reveal clinically relevant differences between male and female patients.

adolescent and young adult glioma↗

Three-dimensional surface topography acquisition and analysis for firearm identification.

In the last decade, computer-based systems for the comparison of microscopic firearms evidence have been the subject of considerable research work because of their expected capability of supporting the firearms examiner through the automated analysis of large amounts of evidence. The Integrated Ballistics Identification System, which is based on a two-dimensional representation of the specimen surface, has been widely adopted in forensic laboratories worldwide. More recently, some attempts to develop systems based on three-dimensional (3D) representations of the specimen surface have been made, both in the literature and as industrial products, such as BulletTRAX-3D, but fundamental limitations in achieving fully automated identification remain. This work analyzes the advantages and disadvantages of a 3D-based approach by proposing an approach and a prototype system for firearms evidence comparison that is based on the acquisition and analysis of the 3D surface topography of specimens, with particular reference to cartridge cases. The concept of 3D virtual comparison microscope is introduced, whose purpose is not to provide fully automated identification, but to show how the availability of 3D shape information can provide a whole new set of verification means, some of them being described and discussed in this work, specifically, visual enhancement tools and quantitative measurement of shape properties, for supporting, not replacing, the firearm examiner in reaching the final decision.

Journal Article↗

Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients.

Polymorphism of a variable number of tandem repeats (VNTR) in the 3' untranslated region of exon 15 of the SLC6A3 gene, coding for the dopamine transporter (DAT), was analysed to test whether length variation contributes to differences in the individual susceptibility to aggressive - criminal behaviour and liability to heroin dependence. The repeat number of the DAT polymorphism was assessed in 125 healthy subjects and 104 heroin-dependent subjects (including 52 addicted individuals with violent behaviour and criminal records). There was no significant difference in the frequencies of genotypes and alleles between heroin-dependent subjects and control subjects. On the contrary, there was a significant difference between offenders and non-offenders, p = 0.004 and p = 0.002, respectively, among heroin-dependent subjects. No association was found between DAT polymorphism and history of suicide. Buss - Durkee Hostility Inventory (BDHI) mean total scores were significantly higher in heroin addicts than in controls (p < 0.001) and in antisocial - violent heroin addicts in comparison with addicted individuals without antisocial behaviour (p < 0.005). The regression analysis of BDHI subscales, performed to provide an estimate of the magnitude of any potential effect on the risk of aggressiveness associated with the variants in DAT VNTR, showed that the presence of the 9 - 9 genotype significantly increases the risk of irritability and direct aggressiveness more than six and 10 times with respect to the 9 - 10 genotype. Our findings suggest that the 9-repeat allele of the DAT polymorphism confers increased susceptibility to antisocial - violent behaviour and aggressiveness, rather than drug dependence per se in heroin-dependent males.

Adult↗