Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular ...controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation—conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations. Therefore, identifying novel disease-causing mutations in genes that regulate craniofacial development is a critical prerequisite to develop new preventive or therapeutic measures. The Grainyhead-like (GRHL) transcription factors are one such gene family, performing evolutionarily conserved roles in craniofacial patterning. The antecedent member of this family, Drosophila grainyhead (grh), is required for head skeleton development in fruit flies, loss or mutation of Grhl family members in mouse and zebrafish models leads to defects of both maxilla and mandible, and recently, mutations in human GRHL3 have been shown to cause or contribute to both syndromic (Van Der Woude syndrome) and nonsyndromic palatal clefts. In this review, we summarize the current knowledge regarding the craniofacial-specific function of the Grainyhead-like family in multiple model species, identify some of the major target genes regulated by the Grhl transcription factors in craniofacial patterning, and, by examining animal models, draw inferences as to how these data will inform the likely roles of GRHL factors in human CFDs comprising palatal clefting. By understanding the molecular networks regulated by Grhl2 and Grhl3 target genes in other systems, we can propose likely pathways that mediate the effects of these transcription factors in human palatogenesis.
SUMMARY
Einstein Telescope (ET) is a proposed underground infrastructure in Europe to host future generations of gravitational-wave (GW) detectors. One of its design goals is to extend the ...observation band of terrestrial GW detectors from currently about 20 Hz down to 3 Hz. The coupling of a detector to its environment becomes stronger at lower frequencies, which makes it important to carefully analyse environmental disturbances at ET candidate sites. Seismic disturbances pose the greatest challenge since there are several important mechanisms for seismic vibrations to produce noise in ET, for example, through gravitational coupling, stray light, or through harmful constraints on the design of ET’s control system. In this paper, we present an analysis of the time-variant properties of the seismic field at the Sardinia candidate site of ET connected to anthropogenic as well as natural phenomena. We find that temporal variations of source distributions and of the noise spectra generally follow predictable trends in the form of diurnal, weekly, or seasonal cycles. Specific seismic sources were identified such as road bridges, which produce observable disturbances underground. This information can be used to adapt a detector’s seismic isolation and control system.
In this work we report the ongoing characterization of the Sos Enattos former mine (Sardinia, Italy), one of the two candidate sites for the Einstein Telescope (ET), the European third-generation ...underground interferometric detector of Gravitational Waves. The Sos Enattos site lies on a crystalline basement, made of rocks with good geomechanical properties, characterized by negligible groundwater. In addition, the site has a very low seismic background noise due to the absence of active tectonics involving Sardinia. Finally, the area has a low population density, resulting in a reduced anthropic noise even at the ground level. This location was already studied in 2012-2014 as a promising site for an underground detector. More recently, in March 2019, we deployed a new network of surface and underground seismometers at the site, that is currently monitoring the local seismic noise. Most of the energy carried by the seismic waves is due to the microseisms below 1 Hz, showing a significant correlation with the waves of the west Mediterranean sea. Above 1 Hz the seismic noise in the underground levels of the mine approaches the Peterson's low noise model. Exploiting mine blasting works into the former mine, we were also able to perform active seismic measurements to evaluate the seismic waves propagation across the area. In conclusion we also give a first assessment about the acoustic and magnetic noise in this underground site.
The idea of the CHNET-TANDEM experiment is to develop and optimize a non-destructive technique, which allows analysis deep inside the sample with a good spatial resolution, using a negative muon ...beam. By selecting the primary muon energies appropriately, bulk analysis can be performed without destructing the sample. The experimental setup used for this experiment, made by 2 hodoscopes and 5 HpGe, allowed us to collect very interesting preliminary data concerning scan momentum, positioning and centering of the samples by means of two hodoscopes, analysis of standard material targets and elemental characterization of Nuragic “Bronze Age” votive ship fragments.
Nowadays, laser-driven proton beams generated by the interaction of high power lasers with solid targets represent a fascinating attraction in the field of the new acceleration techniques. These ...beams can be potentially accelerated up to hundreds of MeV and, therefore, they can represent a promising opportunity for medical applications. Laser-accelerated proton beams typically show high flux (up to 1011 particles per bunch), very short temporal profile (ps), broad energy spectra and poor reproducibility. In order to overcome these limitations, these beams have be controlled and transported by means of a proper beam handling system. Furthermore, suitable dosimetric diagnostic systems must be developed and tested. In the framework of the ELIMED project, we started to design a dedicated beam transport line and we have developed a first prototype of a beam line key-element: an Energy Selector System (ESS). It is based on permanent dipoles, capable to control and select in energy laser-accelerated proton beams. Monte Carlo simulations and some preliminary experimental tests have been already performed to characterize the device. A calibration of the ESS system with a conventional proton beam will be performed in September at the LNS in Catania. Moreover, an experimental campaign with laser-driven proton beam at the Centre for Plasma Physics, Queens University in Belfast is already scheduled and will be completed within 2014.
Lead isotope compositions were determined for 18 metal objects from the archaeological site of Sant’Imbenia, NW Sardinia, dating to the end of the ninth century BCE onwards. The provenance of some ...objects is unambiguously traced to SW Sardinia; other objects could derive either from central Sardinia or the Iberian coastal ranges. The variety of the provenances attests to a wide trade network that spanned the entire island of Sardinia and extended to the Iberian sites.
Proton Computed Tomography (pCT) is a medical imaging technique based on the use of proton beams with energies above 200MeV to directly measure stopping power distributions inside the tissue volume. ...Prima (PRoton IMAging) is an Italian collaboration working on the development of a pCT scanner based on a tracker and a calorimeter to measure single protons trajectory and residual energy. The tracker is composed of four planes of silicon microstrip detectors to measure proton entry and exit positions and angles. Residual energy is measured by a calorimeter composed of YAG:Ce scintillating crystals. A first prototype of pCT scanner, with an active area of about 5×5cm2, has been constructed and characterized with 60MeV protons at the INFN Laboratori Nazionali del Sud, Catania (Italy) and with 180MeV protons at Svedberg Laboratory, Uppsala (Sweden). A new pre-clinical prototype with an extended active area up to 20×5cm2, real time data acquisition and a data rate up to 1MHz is under development. A description of the two prototypes will be presented together with first results concerning tomographic image reconstruction.
This paper describes the development of a proton Computed Tomography (pCT) apparatus able to reconstruct a map of stopping power useful for accurate proton therapy treatment planning and patient ...positioning. This system is based on two main components: a silicon microstrip tracker and a YAG:Ce crystal calorimeter. Each proton trajectory is sampled by the tracker in four points: two upstream and two downstream the object under test; the particle residual energy is measured by the calorimeter. The apparatus is described in details together with a discussion on the characterization of the hardware under proton beams with energies up to 175MeV.
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