Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circulatory, respiratory, and hematological adaptations to life at high altitude. Although these responses have been well characterized physiologically, their underlying genetic basis remains unknown. We performed a genome scan to identify genes showing evidence of adaptation to hypoxia. We looked across each chromosome to identify genomic regions with previously unknown function with respect to altitude phenotypes. In addition, groups of genes functioning in oxygen metabolism and sensing were examined to test the hypothesis that particular pathways have been involved in genetic adaptation to altitude. Applying four population genetic statistics commonly used for detecting signatures of natural selection, we identified selection-nominated candidate genes and gene regions in these two populations (Andeans and Tibetans) separately. The Tibetan and Andean patterns of genetic adaptation are largely distinct from one another, with both populations showing evidence of positive natural selection in different genes or gene regions. Interestingly, one gene previously known to be important in cellular oxygen sensing, EGLN1 (also known as PHD2), shows evidence of positive selection in both Tibetans and Andeans. However, the pattern of variation for this gene differs between the two populations. Our results indicate that several key HIF-regulatory and targeted genes are responsible for adaptation to high altitude in Andeans and Tibetans, and several different chromosomal regions are implicated in the putative response to selection. These data suggest a genetic role in high-altitude adaption and provide a basis for future genotype/phenotype association studies necessary to confirm the role of selection-nominated candidate genes and gene regions in adaptation to altitude

Incorporation of calcium in glasses: a key to understand the vitrification of sewage sludge

The quantity of sewage sludge generated daily by wastewater treatment plants represents a major environmental problem and a financial burden for plant operators. Valorization strategies focusing on reusing sewage sludge as a raw material are currently developed. Vitrification can help us reduce the volume of waste and binds the components in the structure of chemically stable glasses and glass‐ceramics. In this study, the vitrification of sewage sludge inside a basaltic rock has been simulated by producing glasses and a glass‐ceramic from basalt enriched in calcium that lie between the stability fields of pyroxene and melilite in the system CaO‐MgO‐SiO2‐Al2O3. CaO addition causes the oxidation of the melt at above the liquidus, increases the crystallization temperature, decreases the melting temperature and improves the microhardness of the glasses Glass‐ceramic processes improves the properties of the Ca‐doped basalt glass. The microhardness of the glass (8.2 GPa) and the glass‐ceramic (8.6 GPa) and leaching tests (in the ppb range) place both the glass and the glass‐ceramics at the high end of the mechanical properties and chemical resistance of ceramic tiles for the building industry

Juxta-articular myxoma of the knee in a 5-year-old boy: a case report and review of the literature (2009: 12b)

Juxta-articular myxoma (JAM) is a relatively rare variant of myxoma that occurs in the vicinity of large joints. It is composed of fibroblast-like cells that produce an excessive amount of glycosaminoglycans rich in hyaluronic acid. The peak incidence is between the 3rd and 5th decades of life. In this report we describe an extremely rare case of JAM in the knee of a 5-year-old child. The clinical presentation, radiological features and histopathologic findings are described, and the relevant literature is reviewed

Towards an understanding of the information and support needs of surgical adolescent idiopathic scoliosis patients: a qualitative analysis

<p>Abstract</p> <p>Background</p> <p>Informed decision making for adolescents and families considering surgery for scoliosis requires essential information, including expected outcomes with or without treatment and the associated risks and benefits of treatment. Ideally families should also receive support in response to their individual concerns. The aim of this study was to identify health-specific needs for online information and support for patients with adolescent idiopathic scoliosis who have had or anticipate having spinal surgery.</p> <p>Methods</p> <p>Focus group methodology was chosen as the primary method of data collection to encourage shared understandings, as well as permit expression of specific, individual views. Participants were considered eligible to participate if they had either experienced or were anticipating surgery for adolescent idiopathic scoliosis within 12 months, were between the ages of 10 and 18 years of age, and were English-speaking.</p> <p>Results</p> <p>Two focus groups consisting of 8 adolescents (1 male, 7 female) and subsequent individual interviews with 3 adolescents (1 male, 2 female) yielded a range of participant concerns, in order of prominence: (1) recovery at home; (2) recovery in hospital; (3) post-surgical appearance; (4) emotional impact of surgery and coping; (5) intrusion of surgery and recovery of daily activities; (6) impact of surgery on school, peer relationships and other social interactions; (7) decision-making about surgery; (8) being in the operating room and; (9) future worries.</p> <p>Conclusion</p> <p>In conclusion, adolescents welcomed the possibility of an accessible, youth-focused website with comprehensive and accurate information that would include the opportunity for health professional-moderated, online peer support.</p

First observations of separated atmospheric nu_mu and bar{nu-mu} events in the MINOS detector

The complete 5.4 kton MINOS far detector has been taking data since the beginning of August 2003 at a depth of 2070 meters water-equivalent in the Soudan mine, Minnesota. This paper presents the first MINOS observations of nuµ and [overline nu ]µ charged-current atmospheric neutrino interactions based on an exposure of 418 days. The ratio of upward- to downward-going events in the data is compared to the Monte Carlo expectation in the absence of neutrino oscillations, giving Rup/downdata/Rup/downMC=0.62-0.14+0.19(stat.)±0.02(sys.). An extended maximum likelihood analysis of the observed L/E distributions excludes the null hypothesis of no neutrino oscillations at the 98% confidence level. Using the curvature of the observed muons in the 1.3 T MINOS magnetic field nuµ and [overline nu ]µ interactions are separated. The ratio of [overline nu ]µ to nuµ events in the data is compared to the Monte Carlo expectation assuming neutrinos and antineutrinos oscillate in the same manner, giving R[overline nu ][sub mu]/nu[sub mu]data/R[overline nu ][sub mu]/nu[sub mu]MC=0.96-0.27+0.38(stat.)±0.15(sys.), where the errors are the statistical and systematic uncertainties. Although the statistics are limited, this is the first direct observation of atmospheric neutrino interactions separately for nuµ and [overline nu ]µ

DNA recognition and transcriptional regulation by the WhiA sporulation factor

Sporulation in the filamentous bacteria Streptomyces coelicolor is a tightly regulated process involving aerial hyphae growth, chromosome segregation, septation and spore maturation. Genetic studies have identified numerous genes that regulate sporulation, including WhiA and the sigma factor WhiG. WhiA, which has been postulated to be a transcriptional regulator, contains two regions typically associated with DNA binding: an N-terminal domain similar to LAGLIDADG homing endonucleases, and a C-terminal helix-turn-helix domain. We characterized several in vitro activities displayed by WhiA. It binds at least two sporulation-specific promoters: its own and that of parABp2. DNA binding is primarily driven by its HTH domain, but requires full-length protein for maximum affinity. WhiA transcription is stimulated by WhiG, while the WhiA protein binds directly to WhiG (leading to inhibition of WhiG-dependent transcription). These separate activities, which resemble a possible feedback loop, may help coordinate the closely timed cessation of aerial growth and subsequent spore formation

Two-season Atacama Cosmology Telescope polarimeter lensing power spectrum

© 2017 American Physical Society. We report a measurement of the power spectrum of cosmic microwave background (CMB) lensing from two seasons of Atacama Cosmology Telescope polarimeter (ACTPol) CMB data. The CMB lensing power spectrum is extracted from both temperature and polarization data using quadratic estimators. We obtain results that are consistent with the expectation from the best-fit Planck ΛCDM model over a range of multipoles L=80-2100, with an amplitude of lensing Alens=1.06±0.15(stat)±0.06(sys) relative to Planck. Our measurement of the CMB lensing power spectrum gives σ8Ωm0.25=0.643±0.054; including baryon acoustic oscillation scale data, we constrain the amplitude of density fluctuations to be σ8=0.831±0.053. We also update constraints on the neutrino mass sum. We verify our lensing measurement with a number of null tests and systematic checks, finding no evidence of significant systematic errors. This measurement relies on a small fraction of the ACTPol data already taken; more precise lensing results can therefore be expected from the full ACTPol data set.This work was supported by the U.S. National Science Foundation (NSF) through Grants. No. AST-1440226, No. AST-0965625 and No. AST-0408698 for the ACT project, as well as Grants No. PHY-1214379 and No. PHY-0855887. Funding was also provided by Princeton University, the University of Pennsylvania, and a Canada Foundation for Innovation (CFI) grant to U. B. C. A. C. T. operates in the Parque Astronómico Atacama in northern Chile under the auspices of the Comisión Nacional de Investigación Científica y Tecnológica de Chile (CONICYT). Computations were performed on the GPC supercomputer at the SciNet HPC Consortium. SciNetis funded bytheCFI under the auspices of Compute Canada, the Government of Ontario, the Ontario Research Fund Research Excellence, and the University of Toronto. The development of multichroic detectors and lenses was supported by NASA Grants No. NNX13AE56G and No. NNX14AB58G. N. S. acknowledges support from NSF Grant No. 1513618. A. K. has been supported by NSF Grant No. AST-1312380. R. D. and L. M. thank CONICYT for Grants No. ALMA-CONICYT 31140004, No. FONDECYT 1141113, No. Anillo ACT-1417 and BASAL CATA. We also thank the Mishrahi Fund and the Wilkinson Fund for their generous support of the project