Incidence of Shwachman-Diamond syndrome

No abstract availabl

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome

We report that acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 was not identified in a series of 10 patients with Shwachman\u2013Diamond syndrome (SDS)

Investigation of Rubble-Masonry Wall Construction Practice in Latium, Central Italy

The 2016-2017 Central Italy seismic sequence severely affected existing unreinforced-masonry constructions in four regions. Those in Latium region proved the most prone to fragmentation because of an unfortunate combination of undressed natural stone units and very low lime content in mortar. Within the framework of a research project funded by the regional government, shake table tests are planned to investigate masonry disintegration as well as possible intervention techniques, as described in a companion paper. All specimens will have natural stone units retrieved from the debris in Collespada, a settlement of the municipality of Accumoli, one of the most affected by the seismic sequence. To push further the representativeness of the specimens with respect to field conditions, wall geometry, masonry fabric and mortar recipe are carefully designed. The wall thickness will be approximately equal to 0.5 m, close to average thickness surveyed in the area. Following the survey of several vertical sections of actual masonry walls, the specimens will present unconnected external leaves with a limited nucleus. Based on tests on mortar sampled from collapsed buildings, mortars will be prepared by a part of natural lime every nine parts of sand. Shear tests on sampled mortar delivered apparent cohesion and friction coefficient that are used as preliminary values of a finite-discrete element model, which can account for masonry fragmentation in dynamic non-linear analyses. The numerical model was tested under the envisioned sequence of records, belonging to the Amatrice station and related to the East component, approximately fault normal, of the two main seismic events, 24 August and 30 October, 2016