Accurate gamma and MeV-electron track reconstruction with an ultra-low diffusion Xenon/TMA TPC at 10 atm

We report the performance of a 10 atm Xenon/trimethylamine time projection chamber (TPC) for the detection of X-rays (30 keV) and gamma-rays (0.511-1.275 MeV) in conjunction with the accurate tracking of the associated electrons. When operated at such a high pressure and in similar to 1%-admixtures, trimethylamine (TMA) endows Xenon with an extremely low electron diffusion (1.3 +/- 0.13 mm-sigma (longitudinal), 0.95 +/- 0.20 mm-sigma (transverse) along 1 m drift) besides forming a convenient Penning-Fluorescent' mixture. The TPC, that houses 1.1 kg of gas in its fiducial volume, operated continuously for 100 live-days in charge amplification mode. The readout was performed through the recently introduced microbulk Micromegas technology and the AFTER chip, providing a 3D voxelization of 8 mm x 8 mm x 1.2 mm for approximately 10 cm/MeV-long electron tracks. Resolution in energy (epsilon) at full width half maximum (R) inside the fiducial volume ranged from R = 14.6% (30 keV) to R = 4.6% (1.275 MeV). This work was developed as part of the R&D program of the NEXT collaboration for future detector upgrades in the search of the neutrino-less double beta decay (beta beta 0 nu) in Xe-136, specifically those based on novel gas mixtures. Therefore we ultimately focus on the calorimetric and topological properties of the reconstructed MeV-electron tracks. In particular, the obtained energy resolution has been decomposed in its various contributions and improvements towards achieving the R =1.4%root MeV/epsilon levels obtained in small sensors are discussedThe NEXT collaboration acknowledges funding support from the following agencies and institutions: European Research Council under Advanced Grant 339787-NEXT and Starting Grant 240054-TREX, Spanish Ministerio de Economia y Competitividad under grants Consolider-Ingenio 2010 CSD2008-0037 (CUP) and CSD2007-00042 (CPAN), contracts FPA2008-03456 and FPA2009-13697; Portuguese Fundacao para a Ciencia e a Tecnologia; European FEDER under grant PPTDC/FIS/103860/2008; US Department Of Energy under contract DE-AC02-05CH11231.Gonzalez Diaz, D.; Álvarez Puerta, V.; Borges, FIG.; Camargo, M.; Carcel, S.; Cebrian, S.; Cervera, A.... (2015). Accurate gamma and MeV-electron track reconstruction with an ultra-low diffusion Xenon/TMA TPC at 10 atm. Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. 804:8-24. https://doi.org/10.1016/j.nima.2015.08.033S82480

NEXT-CRAB-0: A High Pressure Gaseous Xenon Time Projection Chamber with a Direct VUV Camera Based Readout

The search for neutrinoless double beta decay ($0\nu\beta\beta$) remains one of the most compelling experimental avenues for the discovery in the neutrino sector. Electroluminescent gas-phase time projection chambers are well suited to $0\nu\beta\beta$ searches due to their intrinsically precise energy resolution and topological event identification capabilities. Scalability to ton- and multi-ton masses requires readout of large-area electroluminescent regions with fine spatial resolution, low radiogenic backgrounds, and a scalable data acquisition system. This paper presents a detector prototype that records event topology in an electroluminescent xenon gas TPC via VUV image-intensified cameras. This enables an extendable readout of large tracking planes with commercial devices that reside almost entirely outside of the active medium.Following further development in intermediate scale demonstrators, this technique may represent a novel and enlargeable method for topological event imaging in $0\nu\beta\beta$.Comment: 32 Pages, 22 figure

A Compact Dication Source for Ba2+^{2+} Tagging and Heavy Metal Ion Sensor Development

We present a tunable metal ion beam that delivers controllable ion currents in the picoamp range for testing of dry-phase ion sensors. Ion beams are formed by sequential atomic evaporation and single or multiple electron impact ionization, followed by acceleration into a sensing region. Controllability of the ionic charge state is achieved through tuning of electrode potentials that influence the retention time in the ionization region. Barium, lead, and cobalt samples have been used to test the system, with ion currents identified and quantified using a quadrupole mass analyzer. Realization of a clean $\mathrm{Ba^{2+}}$ ion beam within a bench-top system represents an important technical advance toward the development and characterization of barium tagging systems for neutrinoless double beta decay searches in xenon gas. This system also provides a testbed for investigation of novel ion sensing methodologies for environmental assay applications, with dication beams of Pb$^{2+}$ and Cd$^{2+}$ also demonstrated for this purpose

Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. METHODS AND RESULTS : In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.01, 95% confidence interval (CI) 7.89-29.74, P < 8.36e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P < 2.2e-16, compared to gnomAD). Combined logarithm of odds score in seven families with ALPK3tv was 2.99. In comparison with a cohort of genotyped patients with HCM (n = 1679) with and without pathogenic sarcomere gene variants (SP+ and SP-), ALPK3tv carriers had a higher prevalence of apical/concentric patterns of hypertrophy (60%, P < 0.001) and of a short PR interval (10%, P = 0.009). Age at diagnosis and maximum left ventricular wall thickness were similar to SP- and left ventricular systolic impairment (6%) and non-sustained ventricular tachycardia (31%) at baseline similar to SP+. After 5.3 ± 5.7 years, 4 (9%) patients with ALPK3tv died of heart failure or had cardiac transplantation (log-rank P = 0.012 vs. SP- and P = 0.425 vs. SP+). Imaging and histopathology showed extensive myocardial fibrosis and myocyte vacuolation. CONCLUSIONS : Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. Methods We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data. Results Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment. Conclusions We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development