Structural Complexity and Seismogenesis: The Role of the Transpressive Structures in the 1976 Friuli Earthquakes (Eastern Southern Alps, NE Italy)

We reconstructed the seismotectonic setting of the area comprising the northeastern Friuli Plain and the Julian pre-Alpine border (NE Italy) by integrating geological and seismological data. The study area represents the junction between the SSE-verging polyphase thrust-front of the southAlpine Chain and the NW–SE-trending strike-slip faults of the eastern Friuli–western Slovenia domain. Following a multidisciplinary approach, the 3D geometry of the Susans–Tricesimo thrust system was reconstructed through the elaboration of four geological cross sections derived from the interpretation of ENI industrial seismic lines. In a second step, the seismogenic volume of the central-eastern Friuli area was investigated through hypocentral distribution analysis: the seismic events of the latest 50 years (1976–1977 and 1978–2019 time intervals) were plotted on four NE-SWoriented seriated sections together with the fault plane’s geometry. Through this procedure, we were able to investigate the relationship between the NW-SE-striking high-angle faults, which characterize the northern Julian pre-Alps, and the WSW-verging medium-angle reverse fronts located at the piedmont of the Friuli plain, which experienced NW-SE-to NNW-SSE-oriented compression starting at least from the Pliocene. In detail, we examined the involvement of these structures during the seismic sequences of May and September 1976, in terms of activation and/or interaction. The resulting seismotectonic model highlights the interplay between transpressive/strike-slip and reverse planes. In particular, this study suggests that Predjama and Maniaglia transpressive faults strongly control the stress release and likely played a fundamental role both during the 6 May (Mw 6.5) and 15 September (Mw 6.0) Friuli earthquakes

Prevalence of comorbidities in patients with obstructive sleep apnea syndrome, overlap syndrome and obesity hypoventilation syndrome

Sleep-disordered breathing causes a burden to the sufferer, the health care system and the society. Most studies have focused on obstructive sleep apnea (OSA); however, the prevalence of comorbidities in patients affected by overlap syndrome (OS) and obesity hypoventilation syndrome (OHS) has not been carefully evaluated

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS patients present an increased risk of benign and malignant thyroid disease since childhood because of inactivating mutation of PTEN, an onco-suppressor gene. Instead, homozygous mutations in the TPO gene can be associated with severe forms of hypothyroidism with goiter; previous studies have described cases of follicular and papillary thyroid cancer in CH patients with TPO mutation despite a perfectly controlled thyroid function with Levothyroxine therapy. To our knowledge, this is the first case that describes the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletions between 17–74 kb in 9% of the patients. Haploinsufficiency of the SHANK3 gene, confirmed in all rearrangements, is very likely the cause of the major neurological features associated with PMS. SHANK3 mutations can also result in language and/or social interaction disabilities. We determined the breakpoint junctions in 29 cases, providing a realistic snapshot of the variety of mechanisms driving non-recurrent deletion and repair at chromosome ends. De novo telomere synthesis and telomere capture are used to repair terminal deletions; non-homologous end-joining or microhomology-mediated break-induced replication is probably involved in ring 22 formation and translocations; non-homologous end-joining and fork stalling and template switching prevail in cases with interstitial 22q13.3. For the first time, we also demonstrated that distinct stabilizing events of the same terminal deletion can occur in different early embryonic cells, proving that terminal deletions can be repaired by multistep healing events and supporting the recent hypothesis that rare pathogenic germline rearrangements may have mitotic origin. Finally, the progressive clinical deterioration observed throughout the longitudinal medical history of three subjects over forty years supports the hypothesis of a role for SHANK3 haploinsufficiency in neurological deterioration, in addition to its involvement in the neurobehavioral phenotype of PMS

Search for eccentric black hole coalescences during the third observing run of LIGO and Virgo

Despite the growing number of confident binary black hole coalescences observed through gravitational waves so far, the astrophysical origin of these binaries remains uncertain. Orbital eccentricity is one of the clearest tracers of binary formation channels. Identifying binary eccentricity, however, remains challenging due to the limited availability of gravitational waveforms that include effects of eccentricity. Here, we present observational results for a waveform-independent search sensitive to eccentric black hole coalescences, covering the third observing run (O3) of the LIGO and Virgo detectors. We identified no new high-significance candidates beyond those that were already identified with searches focusing on quasi-circular binaries. We determine the sensitivity of our search to high-mass (total mass M>70 M⊙) binaries covering eccentricities up to 0.3 at 15 Hz orbital frequency, and use this to compare model predictions to search results. Assuming all detections are indeed quasi-circular, for our fiducial population model, we place an upper limit for the merger rate density of high-mass binaries with eccentricities 0<e≤0.3 at 0.33 Gpc−3 yr−1 at 90\% confidence level

Search for gravitational-lensing signatures in the full third observing run of the LIGO-Virgo network

Gravitational lensing by massive objects along the line of sight to the source causes distortions of gravitational wave-signals; such distortions may reveal information about fundamental physics, cosmology and astrophysics. In this work, we have extended the search for lensing signatures to all binary black hole events from the third observing run of the LIGO--Virgo network. We search for repeated signals from strong lensing by 1) performing targeted searches for subthreshold signals, 2) calculating the degree of overlap amongst the intrinsic parameters and sky location of pairs of signals, 3) comparing the similarities of the spectrograms amongst pairs of signals, and 4) performing dual-signal Bayesian analysis that takes into account selection effects and astrophysical knowledge. We also search for distortions to the gravitational waveform caused by 1) frequency-independent phase shifts in strongly lensed images, and 2) frequency-dependent modulation of the amplitude and phase due to point masses. None of these searches yields significant evidence for lensing. Finally, we use the non-detection of gravitational-wave lensing to constrain the lensing rate based on the latest merger-rate estimates and the fraction of dark matter composed of compact objects

Ultralight vector dark matter search using data from the KAGRA O3GK run

Among the various candidates for dark matter (DM), ultralight vector DM can be probed by laser interferometric gravitational wave detectors through the measurement of oscillating length changes in the arm cavities. In this context, KAGRA has a unique feature due to differing compositions of its mirrors, enhancing the signal of vector DM in the length change in the auxiliary channels. Here we present the result of a search for U(1)B−L gauge boson DM using the KAGRA data from auxiliary length channels during the first joint observation run together with GEO600. By applying our search pipeline, which takes into account the stochastic nature of ultralight DM, upper bounds on the coupling strength between the U(1)B−L gauge boson and ordinary matter are obtained for a range of DM masses. While our constraints are less stringent than those derived from previous experiments, this study demonstrates the applicability of our method to the lower-mass vector DM search, which is made difficult in this measurement by the short observation time compared to the auto-correlation time scale of DM

Evidence for Quaternary tectonic activity from the reconstruction of the buried quaternary bottom surface in the North-Eastern corner of the Friuli plain (NE Italy)

This study deals with the reconstruction of the buried north-easternmost sector of the Friuli plain, through the analysis of seismic and wells subsurface data. The interest was focused on the most recent stratigraphical horizon, here interpreted as the bottom of the Quaternary succession, with the aim to detect the Quaternary activity of the main faults. The eastern Friuli-western Slovenia area is characterized by the interaction of two different deformational systems: in the western sector prevails thrust activity, in the eastern one dominates strike slip tectonics. Main fault-systems show an about E-W trending in the W-sector and a NW-SE trending in the eastern one. Both deformational systems are subjected to NNW-SSE compressional regime (Serpelloni et al, 2016), responsible of their reverse or transcurrent/transpressive kinematics. Their activity is testified by the recent and historical seismicity of the area (Mw6.63, 1348; Mw6.32, 1511; Mw6.45, 1976) (Rovida et al, 2016), but their seismogenic role is still not completely clear. In this contest, Quaternary activity has been assumed for the Susans Tricesimo thrust (Poli & Zanferrari, 2017), while recent paleoseismological investigations revealed Quaternary dislocations on the Colle Villano thrust (Falcucci et al, 2018). In this study industrial seismic lines interpretation, together with deep well logs data, allowed to reconstruct the geometry of the main stratigraphical horizons (from the top Cretaceous-Paleogenic carbonatic platform to the Quaternary base) and the main tectonic structures of the buried eastern Friuli plain. In particular, through the implementation of well logs data it was possible to reconstruct the thickness of the buried alluvial Quaternary deposits and to identify the tectonic influence on the bottom of the Quaternary surface. By merging these new data with morphotectonic and field observations, the main buried active faults of the area were detected and possible estimates of their activity rates were performed