Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that ...varies in concentrations across ancestries. Here, we use deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a). We observe that genetic determinants between Europeans and Africans have several unique determinants. The common variant rs12740374 associated with Lp(a) cholesterol is an eQTL for SORT1 and independent of LDL cholesterol. Observed associations of aggregates of rare non-coding variants are largely explained by LPA structural variation, namely the LPA kringle IV 2 (KIV2)-CN. Finally, we find that LPA risk genotypes confer greater relative risk for incident atherosclerotic cardiovascular diseases compared to directly measured Lp(a), and are significantly associated with measures of subclinical atherosclerosis in African Americans.
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.
The Pierre Auger Observatory is making significant contributions towards understanding the nature and origin of ultra-high energy cosmic rays. One of its main challenges is the monitoring of the ...atmosphere, both in terms of its state variables and its optical properties. The aim of this work is to analyse aerosol optical depth τa(z) values measured from 2004 to 2012 at the observatory, which is located in a remote and relatively unstudied area of Pampa Amarilla, Argentina. The aerosol optical depth is in average quite low – annual mean τa(3.5km)∼0.04 – and shows a seasonal trend with a winter minimum – τa(3.5km)∼0.03 –, and a summer maximum – τa(3.5km)∼0.06 –, and an unexpected increase from August to September — τa(3.5km)∼0.055. We computed backward trajectories for the years 2005 to 2012 to interpret the air mass origin. Winter nights with low aerosol concentrations show air masses originating from the Pacific Ocean. Average concentrations are affected by continental sources (wind-blown dust and urban pollution), whilst the peak observed in September and October could be linked to biomass burning in the northern part of Argentina or air pollution coming from surrounding urban areas.
•Aerosol optical depth measurements at the Pierre Auger Observatory are presented.•We examine correlations between aerosol optical depth values and air masses.•A seasonal trend is observed and explained by air masses coming from the Pacific Ocean.•Validity of GDAS model and HYSPLIT calculations is checked with in-situ measurements.
The energy spectrum of ultra-high energy cosmic rays above 10
18
eV is measured using the hybrid events collected by the Pierre Auger Observatory between November 2005 and September 2010. The large ...exposure of the Observatory allows the measurement of the main features of the energy spectrum with high statistics. Full Monte Carlo simulations of the extensive air showers (based on the CORSIKA code) and of the hybrid detector response are adopted here as an independent cross check of the standard analysis (Phys. Lett. B
685
, 239 (2010)). The dependence on mass composition and other systematic uncertainties are discussed in detail and, in the full Monte Carlo approach, a region of confidence for flux measurements is defined when all the uncertainties are taken into account. An update is also reported of the energy spectrum obtained by combining the hybrid spectrum and that measured using the surface detector array.
To evaluate the frequency of etiologies of Horner syndrome in children and suggest an imaging and laboratory diagnostic protocol to evaluate for neuroblastoma and other lesions in a child presenting ...with Horner syndrome and no known cause.
Retrospective chart and data review.
A retrospective review of all children seen at a large pediatric neuro-ophthalmology referral center with a diagnosis of Horner syndrome between 1993 and 2005 with particular attention to underlying etiologies and the results of imaging and urine catecholamine studies.
Fifty-six children met criteria for Horner syndrome and further review. Twenty-eight children (50%) had no previously identified cause for Horner syndrome. Of these children, 24 (85.7%) had urine catecholamine metabolite studies, and all had negative results. Twenty (71.4%) had complete modern imaging of the brain, neck, and chest. Of the 18 children who had complete imaging and urine studies, responsible mass lesions were found in six (33%). Four had neuroblastoma, one had Ewing sarcoma, and the other had juvenile xanthogranuloma. Of all patients (diagnosis known and unknown), neoplasm was the etiology in 13 of 56 (23%) of patients.
We confirm that Horner syndrome in a child of any age without a surgical history requires a complete examination to exclude a mass lesion. In such patients, we recommend brain, neck, and chest magnetic resonance imaging (MRI) with and without contrast as well as urinary catecholamine metabolite testing. However, imaging is more sensitive than urine testing in this setting.
Single‐molecule tracking is used to follow the motion of individual molecules. In their Communication (e202114388), Bert M. Weckhuysen and co‐workers compare the molecules’ motion behavior in ...different zeolite channel geometries at the single‐molecule level. This approach provides mechanistic insight into the channel geometry–diffusivity relationships and the enhancement of diffusion in hierarchical zeolites.
To determine the independent prognostic significance of 1p36 loss of heterozygosity (LOH) in a representative group of neuroblastoma patients.
Diagnostic tumor specimens from 238 patients registered ...onto the most recent Children's Cancer Group phase III clinical trials were assayed for LOH with 13 microsatellite polymorphic markers spanning chromosome band 1p36. Allelic status at 1p36 was correlated with other prognostic variables and disease outcome.
LOH at 1p36 was detected in 83 (35%) of 238 neuroblastomas. There was a correlation of 1p36 LOH with age at diagnosis greater than 1 year (P = .026), metastatic disease (P<.001), elevated serum ferritin level (P<.001), unfavorable histopathology (P<.001), and MYCN oncogene amplification (P<.001). LOH at 1p36 was associated with decreased event-free survival (EFS) and overall survival (OS) probabilities (P<.0001). For the 180 cases with single-copy MYCN, 1p36 LOH status was highly correlated with decreased EFS (P = .0002) but not OS (P = .1212). Entering 1p36 LOH into a multivariate regression model suggested a trend toward an independent association with decreased EFS (P = .0558) but not with decreased OS (P = .3687). Furthermore, allelic status at 1p36 was the only prognostic variable that was significantly associated with decreased EFS in low-risk neuroblastoma patients (P = .0148).
LOH at 1p36 is independently associated with decreased EFS, but not OS, in neuroblastoma patients. Determination of 1p36 allelic status may be useful for predicting which neuroblastoma patients with otherwise favorable clinical and biologic features are more likely to have disease progression.
A
bstract
A low-background inclusive search for new physics in events with same-sign dileptons is presented. The search uses proton-proton collisions corresponding to 20.3 fb
−1
of integrated ...luminosity taken in 2012 at a centre-of-mass energy of 8 TeV with the ATLAS detector at the LHC. Pairs of isolated leptons with the same electric charge and large transverse momenta of the type
e
±
e
±
,
e
±
μ
±
, and
μ
±
μ
±
are selected and their invariant mass distribution is examined. No excess of events above the expected level of Standard Model background is found. The results are used to set upper limits on the cross-sections for processes beyond the Standard Model. Limits are placed as a function of the dilepton invariant mass within a fiducial region corresponding to the signal event selection criteria. Exclusion limits are also derived for a specific model of doubly charged Higgs boson production.
This AMEE guide discusses theoretical principles and practical strategies for health professions educators to promote impactful mentoring relationships. Traditional definitions are challenged, ...distinctions are made between roles such as mentor, advisor, coach and sponsor. As educational environments change and options for professional development expand, we argue that the traditional dyadic format of mentoring alone will not help mentees to maximise their professional growth. Newer formats of mentoring are discussed in detail and their advantages and disadvantages compared. We use a variety of theoretical concepts to anchor the practice of mentorship: self-focussed and other-focussed motives; psychological safety; personal interpretive framework; Daloz model for balancing support and challenge; zone of proximal development; communities of practice; and development along multiple layers of competence. Recommended strategies for effective mentoring are based on extensive review of literature, as well as combined professional mentoring experiences of the authors. We use key principles from the theories described and phases of mentoring relationships as foundations for the suggested best practices of mentorship. Finally, we emphasise the role of mentees in their own professional development and provide tips for them on seeking mentors, expanding their mentoring network and taking the lead in setting the agenda during mentoring meetings and formulating action plans for their own advancement.This AMEE guide discusses theoretical principles and practical strategies for health professions educators to promote impactful mentoring relationships. Traditional definitions are challenged, distinctions are made between roles such as mentor, advisor, coach and sponsor. As educational environments change and options for professional development expand, we argue that the traditional dyadic format of mentoring alone will not help mentees to maximise their professional growth. Newer formats of mentoring are discussed in detail and their advantages and disadvantages compared. We use a variety of theoretical concepts to anchor the practice of mentorship: self-focussed and other-focussed motives; psychological safety; personal interpretive framework; Daloz model for balancing support and challenge; zone of proximal development; communities of practice; and development along multiple layers of competence. Recommended strategies for effective mentoring are based on extensive review of literature, as well as combined professional mentoring experiences of the authors. We use key principles from the theories described and phases of mentoring relationships as foundations for the suggested best practices of mentorship. Finally, we emphasise the role of mentees in their own professional development and provide tips for them on seeking mentors, expanding their mentoring network and taking the lead in setting the agenda during mentoring meetings and formulating action plans for their own advancement.
Remediating soil contaminated by petroleum is a significant environmental problem that calls for long-term and practical solutions. In order to solve this problem, this study investigates the ...potential benefits of combining phytoremediation with bioremediation procedures. Whereas phytoremediation uses specialized plants to collect and detoxify pollutants, bioremediation makes use of microorganisms' inherent ability to degrade materials. Aim of the search is to assess the viability, effectiveness, and ecological consequences of these techniques. Systematic experiments revealed that petroleum pollutants in soil can be efficiently reduced by both phytoremediation and bioremediation. While phytoremediation demonstrates the potential of specific plant species to collect and mitigate contaminants, bioremediation benefits from a broad microbial community that breaks down complex hydrocarbons. A few variables that affect the effectiveness of both strategies are temperature, moisture levels, plant selection, and microbial activity. The use of bioremediation and phytoremediation both have benefits and drawbacks, which renders them complimentary methods. Site- specific elements including soil characteristics, pollutant kinds, and weather patterns affect its performance. These techniques are being improved upon by research, which also incorporates cutting-edge technology like genetic engineering and nanoremediation.
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