" Sensitivity analysis of damaged monumental structures: the example of S. Maria del Suffragio in L'Aquila "

In Italy, which accounts for an impressive number of architectural heritage sites, a large part of the territory is subject to seismic risk. Nonetheless, also the two recent examples of the 2009 L'Aquila earthquake and 2012 Emilia earthquake confirmed and highlighted the vulnerability of cultural heritage structures to these types of events. In this paper the church of Santa Maria del Suffragio (Anime Sante) in L'Aquila is used as a benchmark for the experimental validation of a finite element model on the basis of the data gathered by the permanent structural health monitoring system installed on the building by IUAV in 2009. Structural health monitoring techniques have been largely applied to cultural Heritage buildings in recent times, mostly because of their non-destructive nature, and they have proven to be a valid tool in assessing the damage evolution and in characterising the global dynamic behaviour of the structure. In particular, a global sensitivity analysis technique has been applied to a finite element model. The model underwent a model updating procedure on the parameters chosen in the sensitivity analysis. The calibrated model is an invaluable tool in assessing the dynamic behaviour of the structure and may serve for several purposes

Sensitivity analysis of damaged monumental structures: the example of S. Maria del Suffragio in L'Aquila

In Italy, which accounts for an impressive number of architectural heritage sites, a large part of the territory is subject to seismic risk. Nonetheless, also the two recent examples of the 2009 L'Aquila earthquake and 2012 Emilia earthquake confirmed and highlighted the vulnerability of cultural heritage structures to these types of events. In this paper the church of Santa Maria del Suffragio (Anime Sante) in L'Aquila is used as a benchmark for the experimental validation of a finite element model on the basis of the data gathered by the permanent structural health monitoring system installed on the building by IUAV in 2009. Structural health monitoring techniques have been largely applied to cultural Heritage buildings in recent times, mostly because of their non-destructive nature, and they have proven to be a valid tool in assessing the damage evolution and in characterising the global dynamic behaviour of the structure. In particular, a global sensitivity analysis technique has been applied to a finite element model. The model underwent a model updating procedure on the parameters chosen in the sensitivity analysis. The calibrated model is an invaluable tool in assessing the dynamic behaviour of the structure and may serve for several purpose

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes