Exploring polygenic contributors to subgroups of comorbid conditions in autism spectrum disorder

Individuals with autism spectrum disorder (ASD) have heterogeneous comorbid conditions. This study examined whether comorbid conditions in ASD are associated with polygenic risk scores (PRS) of ASD or PRS of comorbid conditions in non-ASD specific populations. Genome-wide single nucleotide polymorphism (SNP) data were obtained from 1386 patients with ASD from the Autism Genetic Resource Exchange (AGRE) study. After excluding individuals with missing clinical information concerning comorbid conditions, a total of 707 patients were included in the study. A total of 18 subgroups of comorbid conditions (‘topics’) were identified using a machine learning algorithm, topic modeling. PRS for ASD were computed using a genome-wide association meta-analysis of 18,381 cases and 27,969 controls. From these 18 topics, Topic 6 (over-represented by allergies) (p = 1.72 × 10−3) and Topic 17 (over-represented by sensory processing issues such as low pain tolerance) (p = 0.037) were associated with PRS of ASD. The associations between these two topics and the multi-locus contributors to their corresponding comorbid conditions based on non-ASD specific populations were further explored. The results suggest that these two topics were not associated with the PRS of allergies and chronic pain disorder, respectively. Note that characteristics of the present AGRE sample and those samples used in the original GWAS for ASD, allergies, and chronic pain disorder, may differ due to significant clinical heterogeneity that exists in the ASD population. Additionally, the AGRE sample may be underpowered and therefore insensitive to weak PRS associations due to a relatively small sample size. Findings imply that susceptibility genes of ASD may contribute more to the occurrence of allergies and sensory processing issues in individuals with ASD, compared with the susceptibility genes for their corresponding phenotypes in non-ASD individuals. Since these comorbid conditions (i.e., allergies and pain sensory issues) may not be attributable to the corresponding comorbidity-specific biological factors in non-ASD individuals, clinical management for these comorbid conditions may still depend on treatments for core symptoms of ASD

Estudio hidrogeológico y de calidad de agua en el sector oriental de la Sierra de San Javier entre las localidades de Yerba Buena y el Manantial. Provincia de Tucuman, Republica Argentina

The study area is located in the center west of the county of Tucumán, in the NW of Argentina. It extends from the oriental border of San Javier’s mountain between the towns of Yerba Buena and Manantial. In the piedmont zone and plain, have settled down diverse urban, agricultural centers and an important industrial complex that are supplied by underground water. The objective of this paper is to define the different geologic factors that impact in the behavior of the underground water and to define areas with appropriate hydrogeological characteristics for its use. The investigation determined that the water contained in the aquifers is of good quality and due to the high permeability, important flows can be obtained, that guarantee the supply to the population, agriculture and industry.La zona de estudio está ubicada en el centro oeste de la provincia de Tucumán, en el noroeste de Argentina. Se extiende desde el borde oriental de la sierra de San Javier entre las localidades de Yerba Buena y el Manantial. En el piedemonte y llanura se han establecido diversos centros urbanos, agrícolas y un importante complejo industrial que se abastecen de agua subterránea. El objetivo del trabajo es delimitar los distintos factores geológicos que inciden en el comportamiento del agua subterránea y tratar de definir zonas con características hidrogeológicas apropiadas para su aprovechamiento. De esta investigación se determinó que el agua que contienen los acuíferos es de buena calidad y debido a la elevada permeabilidad de los mismos, se pueden obtener importantes caudales, con lo que se garantiza el abastecimiento a la población, agricultura e industria

A Tourist Segmentation Based on Motivation, Satisfaction and Prior Knowledge with a Socio-Economic Profiling: A Clustering Approach with Mixed Information

© 2020, The Author(s). The popularity of the cluster analysis in the tourism field has massively grown in the last decades. However, accordingly to our review, researchers are often not aware of the characteristics and limitations of the clustering algorithms adopted. An important gap in the literature emerged from our review regards the adoption of an adequate clustering algorithm for mixed data. The main purpose of this article is to overcome this gap describing, both theoretically and empirically, a suitable clustering algorithm for mixed data. Furthermore, this article contributes to the literature presenting a method to include the “Don’t know” answers in the cluster analysis. Concluding, the main issues related to cluster analysis are highlighted offering some suggestions and recommendations for future analysis

Measurement of the Depth of Maximum of Extensive Air Showers above 10^18 eV

We describe the measurement of the depth of maximum, Xmax, of the longitudinal development of air showers induced by cosmic rays. Almost four thousand events above 10^18 eV observed by the fluorescence detector of the Pierre Auger Observatory in coincidence with at least one surface detector station are selected for the analysis. The average shower maximum was found to evolve with energy at a rate of (106 +35/-21) g/cm^2/decade below 10^(18.24 +/- 0.05) eV and (24 +/- 3) g/cm^2/decade above this energy. The measured shower-to-shower fluctuations decrease from about 55 to 26 g/cm^2. The interpretation of these results in terms of the cosmic ray mass composition is briefly discussed.Comment: Accepted for publication by PR

Optimal treatment duration of glyceryl trinitrate for chronic anal fissure: results of a prospective randomized multicenter trial

Background: Chronic anal fissure (CAF) is a painful condition that is unlikely to resolve with conventional conservative management. Previous studies have reported that topical treatment of CAF with glyceryl trinitrate (GTN) reduces pain and promotes healing, but optimal treatment duration is unknown. Methods: To assess the effect of different treatment durations on CAF, we designed a prospective randomized trial comparing 40 versus 80 days with twice daily topical 0.4% GTN treatment (Rectogesic®, Prostrakan Group). Chronicity was defined by the presence of both morphological (fibrosis, skin tag, exposed sphincter, hypertrophied anal papilla) and time criteria (symptoms present for more than 2 months or pain of less duration but similar episodes in the past). A gravity score (1 = no visible sphincter; 2 = visible sphincter; 3 = visible sphincter and fibrosis) was used at baseline. Fissure healing, the primary endpoint of the study, maximum pain at defecation measured with VAS and maximum anal resting pressure were assessed at baseline and at 14, 28, 40 and 80 days. Data was gathered at the end of the assigned treatment. Results: Of 188 patients with chronic fissure, 96 were randomized to the 40-day group and 92 to the 80-day group. Patients were well matched for sex, age, VAS and fissure score. There were 34 (19%) patients who did not complete treatment, 18 (10%) because of side effects. Of 154 patients who completed treatment, 90 (58%) had their fissures healed and 105 (68%) were pain free. There was no difference in healing or symptoms between the 40- and the 80-day group. There was no predictor of fissure healing. A low fissure gravity score correlated with increased resolution of pain (P < 0.05) and improvement of VAS score (P < 0.05) on both univariate and multivariate analysis. A lower baseline resting pressure was associated with better pain resolution on univariate analysis (P < 0.01). VAS at defecation and fissure healing significantly improved until 40 days (P < 0.001), while the difference between 40 and 80 days was not significant. Conclusion: We found no benefits in treating CAF with topical GTN for 80 days compared to 40 days. Fissure healing and VAS improvement continue until 6 weeks of treatment but are unlikely thereafter. © 2010 Springer-Verlag

Anisotropy and chemical composition of ultra-high energy cosmic rays using arrival directions measured by the Pierre Auger Observatory

The Pierre Auger Collaboration has reported evidence for anisotropy in the distribution of arrival directions of the cosmic rays with energies $E>E_{th}=5.5\times 10^{19}$ eV. These show a correlation with the distribution of nearby extragalactic objects, including an apparent excess around the direction of Centaurus A. If the particles responsible for these excesses at $E>E_{th}$ are heavy nuclei with charge $Z$, the proton component of the sources should lead to excesses in the same regions at energies $E/Z$. We here report the lack of anisotropies in these directions at energies above $E_{th}/Z$ (for illustrative values of $Z=6,\ 13,\ 26$). If the anisotropies above $E_{th}$ are due to nuclei with charge $Z$, and under reasonable assumptions about the acceleration process, these observations imply stringent constraints on the allowed proton fraction at the lower energies

Anisotropy studies around the galactic centre at EeV energies with the Auger Observatory

Data from the Pierre Auger Observatory are analyzed to search for anisotropies near the direction of the Galactic Centre at EeV energies. The exposure of the surface array in this part of the sky is already significantly larger than that of the fore-runner experiments. Our results do not support previous findings of localized excesses in the AGASA and SUGAR data. We set an upper bound on a point-like flux of cosmic rays arriving from the Galactic Centre which excludes several scenarios predicting sources of EeV neutrons from Sagittarius $A$. Also the events detected simultaneously by the surface and fluorescence detectors (the `hybrid' data set), which have better pointing accuracy but are less numerous than those of the surface array alone, do not show any significant localized excess from this direction.Comment: Matches published versio

Investigation of sp carbon chain interaction with silver nanoparticles by Surface Enhanced Raman Scattering

Surface Enhanced Raman Spectroscopy (SERS) is exploited here to investigate the interaction of isolated sp carbon chains (polyynes) in a methanol solution with silver nanoparticles. Hydrogen-terminated polyynes show a strong interaction with silver colloids used as the SERS active medium revealing a chemical SERS effect. SERS spectra after mixing polyynes with silver colloids show a noticeable time evolution. Experimental results, supported by density functional theory (DFT) calculations of the Raman modes, allow us to investigate the behavior and stability of polyynes of different lengths and the overall sp conversion towards sp2 phase.Comment: 19 pages, 7 figures, 1 table

The Fluorescence Detector of the Pierre Auger Observatory

The Pierre Auger Observatory is a hybrid detector for ultra-high energy cosmic rays. It combines a surface array to measure secondary particles at ground level together with a fluorescence detector to measure the development of air showers in the atmosphere above the array. The fluorescence detector comprises 24 large telescopes specialized for measuring the nitrogen fluorescence caused by charged particles of cosmic ray air showers. In this paper we describe the components of the fluorescence detector including its optical system, the design of the camera, the electronics, and the systems for relative and absolute calibration. We also discuss the operation and the monitoring of the detector. Finally, we evaluate the detector performance and precision of shower reconstructions.Comment: 53 pages. Submitted to Nuclear Instruments and Methods in Physics Research Section