Dealing with a hangover of Public Archaeology: Scattered thoughts on the Italian ‘Archeologia Pubblica’

Public Archaeology is a young discipline, we all know that. It’s even younger in Italy, where public archaeology has not even reached ‘adulthood’. Cited for the first time by Armando De Guio in 2000 (De Guio and Bressan 2000), it was only a decade later that Public Archaeology has started to become ‘a thing’, thanks to some pioneering experiences at the University of Florence (Bonacchi 2009; Vannini 2011), and especially after a national conference in 2012 (in Florence: see Zuanni 2013 for a summary). Italian archaeologists’ first reaction was to overlap the new discipline with the experiences already in place, which in Italy were under the category of ‘valorizzazione’ (enhancement). They were not exactly the same: while Public Archaeology is characterised by a reflection on the objectives of the research from the very start, a focus on having a reliable methodology, and a strong element linked to evaluation, ‘enhancement’ experiences – while often valuable and successful – lacked the same structure and reliability. This is probably due to an underestimation of these practices as a scientific topic, thus deserving the same structure required for any other type of research. Often this resulted in a mere description of the activities carried out, with a generic objective like ‘increasing the knowledge of archaeology in the public sphere’ without really evaluating if the activities worked or not. Public Archaeology became a sort of a trendy subject, outdating the term ‘valorizzazione’, at least in most of the university milieu, and creating confusion on the subject and the methodology. This sometimes has led to a sort of ‘hangover’ effect, similar to what happens with summer songs: they sound fun when you first hear them, but after months you just want to move on! Few doctoral theses awarded in Archaeology have been devoted to topics related to Public Archaeology up to the present date and the risk is that after this ‘hangover’ the subject will be penalised in comparison to others

Pollutants monitoring and air quality evaluation in a confined environment: The ‘Majesty’ of Ambrogio Lorenzetti in the St. Augustine Church in Siena (Italy)

A monitoring campaign of the levels of some organic contaminants, such as polycyclic aromatic hydrocarbons (PAHs), perfluoro alkylated substances (PFASs), chlorinated pesticides (4 isomers of hexachlorocyclohexane, hexachlorobenzene, 6 isomers and metabolites of DDT and dieldrin), polychlorinated biphenyls (PCBs), and polybrominated diphenyl ethers (PBDEs), in different matrices (dust taken from the floor and under a wall painting and fragments of the 'Majesty' wall painting by Ambrogio Lorenzetti), was conducted in the historical museum of St. Augustine's church in Siena (Italy). Instrumental analyses were made by gas chromatography and liquid chromatography coupled with mass spectrometry. The results showed the presence of some organic pollutants (PAHs and PBDEs), whose interaction with the surfaces of works of art are not yet fully elucidated. The study was complemented by monitoring the air quality inside and outside the church for the detection of volatile organic compounds (VOCs); all the results showed low levels of air pollution. Copyright (C)2016 Turkish National Committee for Air Pollution Research and Control

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES in a cohort of 200 patients: 84 with isolated ID and 116 with ID and ASD. We identified 41 pathogenic variants with a detection rate of 22% (43/200): 39% in ID patients (33/84) and 9% in ID/ASD patients (10/116). Most of the causative genes are genes responsible for well-established genetic syndromes that have not been recognized for atypical phenotypic presentations. Two genes emerged as new candidates: CACNA2D1 and GPR14. In conclusion, this study reinforces the importance of ES in the diagnosis of ID/ASD and underlines that "reverse phenotyping" is fundamental to enlarge the phenotypic spectra associated with specific genes

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We analysed PKD1 and PKD2, in a large cohort of 440 unrelated Italian patients with ADPKD and 203 relatives by direct sequencing and MLPA. Molecular and detailed phenotypic data have been collected and submitted to the PKD1/PKD2 LOVD database. This is the first large retrospective study in Italian patients, describing 701 variants, 249 (35.5%) already associated with ADPKD and 452 (64.5%) novel. According to the criteria adopted, the overall detection rate was 80% (352/440). Novel variants with uncertain significance were found in 14% of patients. Among patients with pathogenic variants, in 301 (85.5%) the disease is associated with PKD1, 196 (55.7%) truncating, 81 (23%) non truncating, 24 (6.8%) IF indels, and in 51 (14.5%) with PKD2. Our results outline the high allelic heterogeneity of variants, complicated by the presence of variants of uncertain significance as well as of multiple variants in the same subject. Classification of novel variants may be particularly cumbersome having an important impact on the genetic counselling. Our study confirms the importance to improve the assessment of variant pathogenicity for ADPKD; to this point databasing of both clinical and molecular data is crucial

Drug-releasing mesenchymal cells strongly suppress B16 lung metastasis in a syngeneic murine model

Mesenchymal stromal cells (MSCs) are considered an important therapeutic tool in cancer therapy. They possess intrinsic therapeutic potential and can also be in vitro manipulated and engineered to produce therapeutic molecules that can be delivered to the site of diseases, through their capacity to home pathological tissues. We have recently demonstrated that MSCs, upon in vitro priming with anti-cancer drug, become drug-releasing mesenchymal cells (Dr-MCs) able to strongly inhibit cancer cells growth

The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males

The polymorphism L412F in TLR3 has been associated with several infectious diseases. However, the mechanism underlying this association is still unexplored. Here, we show that the L412F polymorphism in TLR3 is a marker of severity in COVID-19. This association increases in the sub-cohort of males. Impaired macroautophagy/autophagy and reduced TNF/TNFα production was demonstrated in HEK293 cells transfected with TLR3L412F-encoding plasmid and stimulated with specific agonist poly(I:C). A statistically significant reduced survival at 28 days was shown in L412F COVID-19 patients treated with the autophagy-inhibitor hydroxychloroquine (p = 0.038). An increased frequency of autoimmune disorders such as co-morbidity was found in L412F COVID-19 males with specific class II HLA haplotypes prone to autoantigen presentation. Our analyses indicate that L412F polymorphism makes males at risk of severe COVID-19 and provides a rationale for reinterpreting clinical trials considering autophagy pathways.publishedVersio