The Archaeological Sites: from excavation to “open-air” museum Cultural uses, preservation, environments

“History” has allowed that ruins from past epochs characterized the contemporary landscape over the following centuries. But when did they begin setting up an “archaeological site” within this environments? This contribute provides, through the analysis of some emblematic cases, an historical reading of the main events that have contributed to the modern concepts of “archaeological park” and “archaeological site”, summarized below, and to the difficult relationship among their surroundings. Starting from 1700 the monuments of antiquity became a "material witness" and not only a model of inspiration: this was the end of the practice of re-using ancient architecture as building materials. Meanwhile, scientific archaeological research replaced the clandestine excavations, providing finds to be exhibited in new museums. The exceptional discovery of Herculaneum and Pompeii gave a new role to the architectural remains: they became materials to be restored, preserved and exhibited, also towards a non-specialist audience, in a kind of “open-air” museum with didactic purposes. Since 1800 archaeological excavations were focused on urban areas, at first in sparsely built-up areas, later in central zones. In Rome with this cultural climate, it began to feel the need of designing a route among ruins and, at the same time, reconnecting the “big central archaeological area” with the historical city. However, during the same years, the practice of “isolating monuments” also began, denying the relationship with the surrounding environment. This practice remains in use during the first half of ‘900: it determined a deep fracture (still unresolved) between the modern town and new and old excavated area. Lately, a new cultural use of the ruins and the protection of them together with their context determined the birth of the legal instrument of the archaeological park, a new concept of protection that allows you to combine all the modern instances of restoration and museology

Design on Archaeological Sites between Enhancement and Conservation. The Museographic Project of the Acropolis of Mount Filerimos (Rhodes)

The current appearance of the archaeological area of Mount Filerimos, in the island of Rhodes, is the result of design by Rodolfo Petracco, made during the Italian occupation of Dodecanese. The site, formerly the acropolis of the ancient Ialysos, has many stratifications: a pre-hellenic cult is attested since IX cent. B.C., while the remains of architectural structures are dated between the VI cent. B.C. and 1930s, when the re-built church of "Our Lady" was enlarged with the monastery. Purpose of the project illustrated in this paper is to improve the physical and cultural use of the site and facilitate its conservation, through a more appropriate use of the architectural structures. The project, based mainly on historical knowledge and on the critical reading of the archaeological site, includes two different forms of museography. An "open-air" museum, designed to ensure accessibility to different categories of users, allows to visit the main archaeological remains with safety for users protecting the structures. The new access walkway to the church replaces the current and precarious path on the east foundation of the late-classic temple of Athena. Part of the design is the lapidarium set up with Early Christian and Byzantine architectural fragments. It is located close to the structures of the multilayered Church, to emphasize the connection between exposure and environmental context. The typological exhibition promotes understanding by the visitor and, at same time, the conservation of the blocks. A "traditional" archaeological museum is set up with the votive offerings to the ancient deity of the acropolis, which are preserved at the moment in the city of Rhodes. The exhibition is located in the monastic structures, strongly degraded after almost a century of abandonment. The new use of the monastery doesn’t alter its original image, respects the architectural character of the building and preserves, where is possible, its furnishings

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic alterations in ANKRD11. A molecular diagnosis was obtained in 22 out of 33 patients (67%). ANKRD11 sequencing disclosed pathogenic or likely pathogenic variants in 18 out of 33 patients. CMA identified one full and one terminal ANKRD11 pathogenic deletions, and one partial duplication and one intronic microdeletion, with both possibly being pathogenic. The pathogenic effect was established by RT-qPCR, which confirmed ANKRD11 haploinsufficiency only for the three deletions. Moreover, RT-qPCR applied to six molecularly unsolved KBGS patients identified gene downregulation in a clinically typical patient with previous negative tests, and further molecular investigations revealed a cryptic deletion involving the gene promoter. In conclusion, ANKRD11 pathogenic variants could also involve the regulatory regions of the gene. Moreover, the application of a multi-test approach along with the innovative use of RT-qPCR improved the diagnostic yield in KBGS suspected patients

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation

Introduction: High repeat expansion (HRE) alleles in C9orf72 have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretation of molecular data lacks a defined genotype-phenotype association. In this study, we provide results from a large multicenter epidemiological study reporting the distribution of C9orf72 repeats in healthy elderly from the Italian population. Methods: A total of 967 samples were collected from neurologically evaluated healthy individuals over 70 years of age in the 13 institutes participating in the RIN (IRCCS Network of Neuroscience and Neurorehabilitation) based in Italy. All samples were genotyped using the AmplideXPCR/CE C9orf72 Kit (Asuragen, Inc.), using standardized protocols that have been validated through blind proficiency testing. Results: All samples carried hexanucleotide G4C2 expansion alleles in the normal range. All samples were characterized by alleles with less than 25 repeats. In particular, 93.7% of samples showed a number of repeats ≤10, 99.9% ≤20 repeats, and 100% ≤25 repeats. Conclusion: This study describes the distribution of hexanucleotide G4C2 expansion alleles in an Italian healthy population, providing a definition of alleles associated with the neurological healthy phenotype. Moreover, this study provides an effective model of federation between institutes, highlighting the importance of sharing genomic data and standardizing analysis techniques, promoting translational research. Data derived from the study may improve genetic counseling and future studies on ALS/FTD