Diagnostic Process of an Ancient Colonnade Using 3D High-Resolution Models with Non-Invasive Multi Techniques

Here, an avant-garde study of three ancient Doric columns of the precious, ancient Romanesque church of Saints Lorenzo and Pancrazio in the historical town center of Cagliari (Italy) is presented based on the integrated application of different non-destructive testing methods. The limitations of each methodology are overcome by the synergistic application of these methods, affording an accurate, complete 3D image of the studied elements. Our procedure begins with a macroscopic in situ analysis to provide a preliminary diagnosis of the conditions of the building materials. The next step is laboratory tests, in which the porosity and other textural characteristics of the carbonate building materials are studied by optical and scanning electron microscopy. After this, a survey with a terrestrial laser scanner and close-range photogrammetry is planned and executed to produce accurate high-resolution 3D digital models of the entire church and the ancient columns inside. This was the main objective of this study. The high-resolution 3D models allowed us to identify architectural complications occurring in historical buildings. The 3D reconstruction with the above metric techniques was indispensable for planning and carrying out the 3D ultrasonic tomography, which played an important role in detecting defects, voids, and flaws within the body of the studied columns by analyzing the propagation of the ultrasonic waves. The high-resolution 3D multiparametric models allowed us to obtain an extremely accurate picture of the conservation state of the studied columns in order to locate and characterize both shallow and internal defects in the building materials. This integrated procedure can aid in the control of the spatial and temporal variations in the materials’ properties and provides information on the process of deterioration in order to allow adequate restoration solutions to be developed and the structural health of the artefact to be monitored

3D imaging of CRP and ultrasonic tomography to detect decay in a living adult holm oak (Quercus ilex L.) in Sardinia (Italy)

A field-integrated methodology using 3D ultrasonic tomography supported by close range photogrammetry (CRP) has been developed and evaluated as a tool to detect the presence and patterns of decay forms in a living adult holm oak (Quercus ilex L.) in an urban green area of the city of Cagliari, Sardinia, Italy. Close range photogrammetry was used to compute a high resolution 3D model of the studied tree, texturized with natural colors. Moreover, following the implemented workflow process it was possible to evaluate the deformation pattern of the studied tree over time. In a second step of our integrated approach, and in order to diagnose the state of health of the inner part of the studied tree in a non-invasive way, laboratory and in situ non-invasive ultrasonic techniques were applied. The results of the close range photogrammetry analysis supported the optimal design of the 3D ultrasonic tomography of the living adult holm oak. Ultrasonic tomography is one of the most powerful non-destructive testing techniques for the full-volume inspection of a structure. It produced physical information on the inner structure of the stem of the investigated tree. The results of the study show that the integrated application of close range photogrammetry and 3D ultrasonic tomography is a powerful tool for a highly accurate and objective evaluation of the external and internal decay of trees and for monitoring their conservation states. With the fully integrated approach, the diagnostic process aimed to prevent instability and the failure of trees can be greatly improved

High resolution 3-D modelling of cylinder shape bodies applied to ancient columns of a church

The use of Non-Destructive Testing (NDT) applied to construction materials allows to highlight and characterize their features, especially in the case of old buildings. The multi-technique high resolution 3D modelling described here is aimed to investigate the conservation state of the central column of a colonnade in the ancient church of Saints Lorenzo and Pancratio, dating to about the second half of the thirteenth century and located in the old town of Cagliari (Italy). This column was considered of interest because its longitudinal axis deviates from its ideal position and it appears the most deteriorated. In this work we describe the integrated application of 3D diagnostic methods, i.e. Terrestrial Laser Scanner (TLS), close range photogrammetry (CRP) and ultrasonic tomography supported by petrographic investigations. They were used to improve the diagnostic process of the conservation state of the investigated column. The TLS technique was supported by CRP to obtain a natural colour texturized 3D model of the column. The geometrical anomaly maps derived from the data of the TLS-CRP survey show the presence of some anomalies worthy of attention. Starting from the 3D reconstruction with previous techniques we planned and implemented a 3D ultrasonic tomography. Ultrasonic tomography proved to be a successful tool in identifying internal defects, as well as the presence of voids and flaws within the materials through the analysis of the propagation of ultrasonic waves. The integration of the three non-invasive techniques supported by petrographical analyses demonstrates its potential in reducing ambiguities since each technique brings its clue to the overall diagnostic process

Detailed petrophysical and geophysical characterization of core samples from the potential caprock-reservoir system in the Sulcis Coal Basin (Southwestern Sardinia - Italy)

In this work we present a methodology suitable to identify a caprock-reservoir system for the CO2 storage in the Sulcis Coal Basin (SW Sardinia - Italy). The petrophysical and geophysical characterizations indicate that the potential carbonate reservoir ("Miliolitico" Fm. Auct.) located at the base of the Eocene stratigraphic sequence in the mining district of the Sulcis Coal Basin, southwestern Sardinia, is heterogeneous but presents suitable reservoir zones for the storage of the CO2. The GPS data analysis indicates that the study area is stable, since it is characterized by a surface crustal deformation smaller than 1 mm/y

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS‐like). Here, a whole exome sequencing approach in individuals with CS/CISS‐like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf‐Yang syndrome, and the early infantile epileptic encephalopathy‐11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow‐up

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Abstract Background Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. Methods We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. Results Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 10−6 level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10−5, we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16x10−5), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. Conclusions This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

BACKGROUND: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. METHODS: We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. RESULTS: Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p <  0(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. CONCLUSIONS: This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population