Purpose
We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We ...included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions.
Methods
Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs.
Results
We found heterozygous single- or multi-exon deletions in
IL7R
, a known disease gene for autosomal recessive T-B+NK+ SCID, in four families (seven patients). In three families (five patients), these deletions coexisted with a heterozygous splice site or nonsense mutation elsewhere in the same gene, consistent with compound heterozygosity. In our cohort, about a quarter of T-B+NK+ SCID patients (26%) had such compound heterozygous
IL7R
deletions.
Conclusions
We show that heterozygous
IL7R
exon deletions are common in T-B+NK+ SCID and are detectable by WES. They should be considered if Sanger sequencing fails to detect homozygous or compound heterozygous
IL7R
SNVs or INDELs.
The NA62 experiment is designed to measure the (ultra-)rare decay K+→π+νν¯ branching ratio with a precision of ∼10% at the CERN Super Proton Synchrotron (SPS). The L0 Trigger Processor (L0TP) is the ...lowest level system of the trigger chain. It is hardware implemented using programmable logic. The architecture of the L0TP is completely new for a high energy physics experiment. It is fully digital, based on a standard gigabit ethernet communication between detectors and L0TP Board. The L0TP Board is a commercial development board, Terasic DE4, mounting an Altera Stratix IV FPGA. The primitives generated by sub-detectors are sent asynchronously using the UDP protocol to the L0TP during the entire beam spill period (about 5 seconds). The L0TP realigns in time the primitives coming from 7 different sources and manages the information of the time plus all the characteristics of the event as energy, multiplicity and position of hits in order to select good events with a comparison with preset masks. It should guarantee a maximum latency of 1ms. The maximum input rate is 10MHz for each sub-detector, while the design maximum output trigger rate is 1MHz. A complete trigger-less parasitic acquisition of the primitives is possible using mirroring switches to monitor the L0 behavior. A first version of the L0TP was commissioned during the 2014 NA62 pilot run and it is used in the current data taking. A description of the trigger algorithm is here presented.
The Level 0 Trigger Processor for the NA62 experiment Chiozzi, S.; Gamberini, E.; Gianoli, A. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
07/2016, Letnik:
824
Journal Article
Recenzirano
In the NA62 experiment at CERN, the intense flux of particles requires a high-performance trigger for the data acquisition system. A Level 0 Trigger Processor (L0TP) was realized, performing the ...event selection based on trigger primitives coming from sub-detectors and reducing the trigger rate from 10 to 1MHz. The L0TP is based on a commercial FPGA device and has been implemented in two different solutions. The performance of the two systems are highlighted and compared.
This research was aimed to investigate the effect of the leadership fisherwomen and cleaner production of the fish processing industry on the effectiveness of environmental coastal preservation in ...Tangerang District. The research was conducted by survey method and analyzed using Path Analysis (PA). Sampling was done by proportional random sampling. Data sources were obtained from primary data by distributing questionnaires. The results showed that the leadership of fisherwomen had a significant influence on the effectiveness of effort to preserve the coast with a value of 0.420>0.005. Cleaner production in the fish processing industry, was significant effect to work leadership fisherwomen on the effectiveness of coastal preservation with a value of 0.361>0.005. The leadership of fisherwomen together with the cleaner production of fish processing industry had a significant simultaneous effect on the effectiveness of preserving the coastal environment (P<0.05). The value of R square obtained was 52.3%, meaning that the work effectiveness variable preserving the coastal environment can be explain 52.3% by the leadership variable and the clean production environment of fish processing industry while the remaining 47.7% can be explain by other unexamined variables.
Characterisation of scCVD diamond detectors with γ sources Caiffi, B.; Amapane, N.; Argirò, S. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
08/2014, Letnik:
754
Journal Article
Recenzirano
Odprti dostop
A single-crystal CVD (Chemical Vapor Deposition) diamond detector was used to measure γ rays in order to assess its performance in terms of energy resolution and linearity. For this purpose, 57Co, ...133Ba, 22Na, 207Bi and 137Cs γ sources were used. Electrons scattered by the backward Compton process were detected in the diamond, in coincidence with (backscattered) γs measured in a NaI detector, placed at 180° from the CVD diamond detector with respect to the source. The resulting calibration shows a linear dependence of the charge deposited in the diamond and a resolution of about 24keV FWHM for the energy of the incident γs between 40keV (57Co) and 477keV (137Cs), comparable with the resolution of our electronic chain.
Characterization of a neutron imaging setup at the INES facility Durisi, E.A.; Visca, L.; Albertin, F. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
10/2013, Letnik:
726
Journal Article
Recenzirano
Odprti dostop
The Italian Neutron Experimental Station (INES) located at the ISIS pulsed neutron source (Didcot, United Kingdom) provides a thermal neutron beam mainly used for diffraction analysis. A neutron ...transmission imaging system was also developed for beam monitoring and for aligning the sample under investigation. Although the time-of-flight neutron diffraction is a consolidated technique, the neutron imaging setup is not yet completely characterized and optimized. In this paper the performance for neutron radiography and tomography at INES of two scintillator screens read out by two different commercial CCD cameras is compared in terms of linearity, signal-to-noise ratio, effective dynamic range and spatial resolution. In addition, the results of neutron radiographies and a tomography of metal alloy test structures are presented to better characterize the INES imaging capabilities of metal artifacts in the cultural heritage field.
A full characterization of the present INES imaging set-up was carried out.Two CCD cameras and two scintillators (ZnS/6LiF) of different thicknesses were tested.Linearity, effective dynamic range and spatial resolution were determined.Radiographies of steep wedges were performed using the highest dynamic range setup.Tomography of a bronze cube was performed using the best spatial resolution setup.
The NA62 experiment at the CERN-SPS is designed to study the K + → π + νν ultra-rare decay using a high intensity hadron beam and detecting its decay products. The lowest level (Level-0, L0) trigger ...processor represents a crucial component in reducing the event rate, estimated to be about 10 MHz for most of the sub-detectors which form the trigger, by a factor 10 with a maximum admitted latency of 1 ms. For the realization of the trigger selection, two different approaches were developed. A first project is fully based on FPGA, in which the whole logic for data selection is hardware programmed, while the second one joins an off-the-shelf PC to the FPGA for greater flexibility in trigger programming. Development, test results and performances during NA62 data taking will be presented.
Abstract
This study analyzes the environmental impact of 1 ton green tea 50 gr canned in x company using the Life Cycle Assessment (LCA) method. A cradle to gate approach was used to scope the study, ...from plantations to packaging. SimaPro version 9 software is used as a tool for assessing LCA. The evaluation step refers to ISO 14044 of 2006, which determines the objectives and scope, inventory analysis, impact, and interpretation. The method used to assess the environmental impacts is the CML-IA Baseline. The classification results of the dominant and significant impact characterization on the environment are global warming with 475.557,7 kg CO
2
eq. Drying process II, drying process I, PLN electricity, and transportation contribute to the environmental impact. The recommendation for technical improvement based on the sensitivity analysis results is using PLN electricity with renewable energy, namely micro hydro (PLTMH). The combination of wood biomass with other biomass is rice husks, then changing the truck fuel from diesel to fuel that is morm e environmentally friendly Pertamina Dex.
Results of the Italian neu_ART project Re, A; Albertin, F; Bortolin, C ...
IOP conference series. Materials Science and Engineering,
01/2012, Letnik:
37, Številka:
1
Journal Article
Recenzirano
Odprti dostop
The neu_ART project aims at developing state of the art transmission imaging and computed tomography techniques, applied to art objects, by using neutrons as well as more conventional X-rays. In this ...paper a facility for digital X-ray radiography of large area paintings on canvas or wooden panels and for the X-ray tomography of large size wooden artifacts, recently installed in a protected area, is presented. The results of a K-edge radiography facility that will soon be installed in the same area are also shown.
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