The offline software framework of the Pierre Auger Observatory Argirò, S.; Barroso, S.L.C.; Gonzalez, J. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
10/2007, Letnik:
580, Številka:
3
Journal Article
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The Pierre Auger Observatory is designed to unveil the nature and the origins of the highest energy cosmic rays. The large and geographically dispersed collaboration of physicists and the ...wide-ranging collection of simulation and reconstruction tasks pose some special challenges for the offline analysis software. We have designed and implemented a general purpose framework which allows collaborators to contribute algorithms and sequencing instructions to build up the variety of applications they require. The framework includes machinery to manage these user codes, to organize the abundance of user-contributed configuration files, to facilitate multi-format file handling, and to provide access to event and time-dependent detector information which can reside in various data sources. A number of utilities are also provided, including a novel geometry package which allows manipulation of abstract geometrical objects independent of coordinate system choice. The framework is implemented in
C
++
, and takes advantage of object oriented design and common open source tools, while keeping the user side simple enough for
C
++
novices to learn in a reasonable time. The distribution system incorporates unit and acceptance testing in order to support rapid development of both the core framework and contributed user code.
ABSTRACT
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey–Hailey disease (HHD). DD is caused by ...mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal‐dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%–40% of DD patients and 12%–55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found. We provide a comprehensive review of clinical variability in DD and HHD and a review of all reported mutations in ATP2A2 and ATP2C1. Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype–phenotype correlation, which has not been settled unequivocally in DD and HHD. We created a database for all mutations in ATP2A2 and ATP2C1 using the Leiden Open Variation Database (LOVD v3.0), for variants reported in the literature and future inclusions. This data may be of use as a reference tool in further research on treatment of DD and HHD.
Defects in the enzyme argininosuccinate synthetase (ASS, also known as citrullinemia type 1) can lead to different phenotypes, ranging from life‐threatening neonatal hyperammonemia to a later onset with mild or no symptoms.
We collected clinical data of >360 patients and reported 137 mutations (64 of which are novel): 89 missense mutations, 19 nonsense mutations, 17 mutations that affect splicing and 12 deletions.
We reviewed as well ASS regulation, animal models, diagnostic strategies, newborn screening and treatment options.
Incomplete excision of squamous cell carcinoma (cSCC) is associated with an increased risk of recurrence, metastasis, and mortality.
To determine the rate and characteristics of incompletely excised ...cSCC in a dermatological daily practice setting.
Prospective study of all patients who gave informed consent, with a cSCC treated with standard excision (SE) at 1 of 6 Departments of Dermatology in the Netherlands between 2015 and 2017. Pathological reports were screened to detect all incompletely excised cSCCs.
A total of 592 patients with 679 cSCCs were included, whereby most cases were low risk cSCC (89%). The rate of incompletely excised cSCC was 4% ( n = 26), and the majority were high-risk cSCCs of which 24 invaded the deep excision margin.
This prospective study showed that in a dermatological setting, the risk of an incompletely excised cSCC is low (4%) for a cohort that was dominated by low-risk cSCCs. Most incompletely excised cSCCs were of high risk, and incompleteness was almost always at the deep margins. These results suggest that for high-risk cSCC, one should pay attention especially to the deep margin when performing SE, and/or microscopic surgery should be considered.
Oculo-dento-digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly ...expressed in skin, ODDD is usually not associated with skin symptoms. We recently described a family with ODDD and palmoplantar keratoderma. Interestingly, mutation carriers had a novel dinucleotide deletion in the GJA1 gene that resulted in truncation of part of the C-terminus. We speculated, that truncation of the C-terminus may be uniquely associated with skin disease in ODDD. Here, we describe a patient with ODDD and palmar hyperkeratosis caused by a novel dinucleotide deletion that truncates most of the connexin 43 C-terminus. Thus, our findings support the notion that such mutations are associated with the occurrence of skin symptoms in ODDD and provide the first evidence for the existence of a genotype-phenotype correlation.
The High Altitude Water Cherenkov (HAWC) observatory is an array of large water Cherenkov detectors sensitive to gamma rays and hadronic cosmic rays in the energy band between 100GeV and 100 TeV. The ...observatory will be used to measure high-energy protons and cosmic rays via detection of the energetic secondary particles reaching the ground when one of these particles interacts in the atmosphere above the detector. HAWC is under construction at a site 4100 meters above sea level on the northern slope of the volcano Sierra Negra, which is located in central Mexico at 19°N latitude. It is scheduled for completion in 2014. In this paper we estimate the sensitivity of the HAWC instrument to point-like and extended sources of gamma rays. The source fluxes are modeled using both unbroken power laws and power laws with exponential cutoffs. HAWC, in one year, is sensitive to point sources with integral power-law spectra as low as 5×10-13cm-2sec-1 above 2 TeV (approximately 50 mCrab) over 5 sr of the sky. This is a conservative estimate based on simple event parameters and is expected to improve as the data analysis techniques are refined. We discuss known TeV sources and the scientific contributions that HAWC can make to our understanding of particle acceleration in these sources.
Here, a measurement with high statistics of the differential energy spectrum of light elements in cosmic rays, in particular, of primary H plus He nuclei, is reported. The spectrum is presented in ...the energy range from 6 to 158 TeV per nucleus. Data was collected with the High Altitude Water Cherenkov (HAWC) Observatory between June 2015 and June 2019. The analysis was based on a Bayesian unfolding procedure, which was applied on a subsample of vertical HAWC data that was enriched to 82% of events induced by light nuclei. To achieve the mass separation, a cut on the lateral age of air shower data was set guided by predictions of CORSIKA/QGSJET-II-04 simulations. The measured spectrum is consistent with a broken power-law spectrum and shows a kneelike feature at around E = 24.0$^{+3.6}_{-3.1}$ TeV , with a spectral index γ = -2.51 ± 0.02 before the break and with γ = -2.83 ± 0.02 above it. The feature has a statistical significance of 4.1σ. Within systematic uncertainties, the significance of the spectral break is 0.8σ.
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