All Weather Calibration of Wide Field Optical and NIR Surveys

The science goals for ground-based large-area surveys, such as the Dark Energy Survey, Pan-STARRS, and the Large Synoptic Survey Telescope, require calibration of broadband photometry that is stable in time and uniform over the sky to precisions of a per cent or better. This performance will need to be achieved with data taken over the course of many years, and often in less than ideal conditions. This paper describes a strategy to achieve precise internal calibration of imaging survey data taken in less than photometric conditions, and reports results of an observational study of the techniques needed to implement this strategy. We find that images of celestial fields used in this case study with stellar densities of order one per arcmin-squared and taken through cloudless skies can be calibrated with relative precision of 0.5 per cent (reproducibility). We report measurements of spatial structure functions of cloud absorption observed over a range of atmospheric conditions, and find it possible to achieve photometric measurements that are reproducible to 1 per cent in images that were taken through cloud layers that transmit as little as 25 per cent of the incident optical flux (1.5 magnitudes of extinction). We find, however, that photometric precision below 1 per cent is impeded by the thinnest detectable cloud layers. We comment on implications of these results for the observing strategies of future surveys.Comment: Accepted for publication in The Astronomical Journal (AJ

Deposition of impurity metals during campaigns with the JET ITER-like Wall

Post mortem analysis shows that mid and high atomic number metallic impurities are present in deposits on JET plasma facing components with the highest amount of Ni and W, and therefore the largest sink, being found at the top of the inner divertor. Sources are defined as “continuous” or “specific”, in that “continuous” sources arise from ongoing erosion from plasma facing surfaces and “specific” are linked with specific events which decrease over time until they no longer act as a source. This contribution evaluates the sinks and estimates sources, and the balance gives an indication of the dominating processes. Charge exchange neutral erosion is found to be the main source of nickel, whereas erosion of divertor plasma facing components is the main source of tungsten. Specific sources are shown to have little influence over the global mid- and high-Z impurity concentrations in deposits

Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis

IMPORTANCE Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.MAIN OUTCOMES AND MEASURES De novo variants present only in the index case and not in unaffected family members.RESULTS Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p. Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.CONCLUSIONS AND RELEVANCE These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.Genetics of disease, diagnosis and treatmen

Protocol for a partially nested randomised controlled trial to evaluate the effectiveness of the scleroderma patient-centered intervention network COVID-19 home-isolation activities together (SPIN-CHAT) program to reduce anxiety among at-risk scleroderma patients

Objective: Contagious disease outbreaks and related restrictions can lead to negative psychological outcomes, particularly in vulnerable populations at risk due to pre-existing medical conditions. No randomised controlled trials (RCTs) have tested interventions to reduce mental health consequences of contagious disease outbreaks. The primary objective of the Scleroderma Patient-centered Intervention Network COVID-19 Home-isolation Activities Together (SPIN-CHAT) Trial is to evaluate the effect of a videoconference-based program on symptoms of anxiety. Secondary objectives include evaluating effects on symptoms of depression, stress, loneliness, boredom, physical activity, and social interaction.Methods: The SPIN-CHAT Trial is a pragmatic RCT that will be conducted using the SPIN-COVID-19 Cohort, a sub-cohort of the SPIN Cohort. Eligible participants will be SPIN-COVID-19 Cohort participants without a positive COVID-19 test, with at least mild anxiety (PROMIS Anxiety 4a v1.0 T-score >= 55), not working from home, and not receiving current counselling or psychotherapy. We will randomly assign 162 participants to intervention groups of 7 to 10 participants each or waitlist control. We will use a partially nested RCT design to reflect dependence between individuals in training groups but not in the waitlist control. The SPIN-CHAT Program includes activity engagement, education on strategies to support mental health, and mutual participant support. Intervention participants will receive the 4-week (3 sessions per week) SPIN-CHAT Program via video-conference. The primary outcome is PROMIS Anxiety 4a score immediately post-intervention.Ethics and dissemination: The SPIN-CHAT Trial will test whether a brief videoconference-based intervention will improve mental health outcomes among at-risk individuals during contagious disease outbreak

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Abstract: Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies

UNVEILING THE NATURE OF THE UNIDENTIFIED GAMMA-RAYS SOURCES VIII: COMPUTING THE ASSOCIATION PROBABILITY

Despite the significant improvements of the Fermi satellite on the source localization with respect to the previous γ-ray missions, the positional uncertainties of the Fermi sources are still large, making the search for potential low-energy counterparts a challenging task. In the Fermi source catalogs (i.e., 1FGL and 2FGL, respectively) for each counterpart associated with an high-energy source a corresponding value of the association probability was provided. Thus several methods based on the source position or on the logN-logS distribution of potential counterparts were developed to derive the association probabilities. Recently, we discovered a tight connection between the infrared (IR) surveys and the γ-ray sky that allowed us to create several lists of γ-ray blazar-like sources, potential counterparts of Fermi objects. Here we complete our previous analyses presenting a new approach based on Montecarlo simulations to determine the association probability for γ-ray blazarlike sources selected on the basis of their peculiar IR colors. We also describe a different version of the likelihood ratio technique with some improvements based on the IR-γ-ray connection. Both methods are compared with the 2FGL associations to asses their reliability. We found reliable counterparts for 39 previously unidentified γ-ray sources listed in the 2FGL and 5 new γ-ray blazar candidates out of 20 sources associated for a subsample of the 1FGL not detected in the 2FGL. Both methods are also able to associate radio loud narrow line Seyfert 1 showing blazar-like IR colors