The role of the genetic counsellor: a systematic review of research evidence

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms

The Balloon Experimental Twin Telescope for Infrared Interferometry (BETTII): First Flight

The Balloon Experimental Twin Telescope for Infrared Interferometry (BETTII) is an 8-meter far-infrared (30-100 m) double-Fourier Michelson interferometer designed to fly on a high altitude scientific balloon. The project began in 2011, and the payload was declared ready for flight in September 2016. Due to bad weather, the first flight was postponed until June 2017; BETTII was successfully launched on June 8, 2017 for an engineering flight. Over the course of the one night flight, BETTII acquired a large amount of technical data that we are using to characterize the payload. Unfortunately, the flight ended with an anomaly that resulted in destruction of the payload. In this paper, we will discuss the path to BETTII flight, the results of the first flight, and some of the plans for the future

The Balloon Experimental Twin Telescope for Infrared Interferometry (BETTII): towards the first flight

The Balloon Experimental Twin Telescope for Infrared Interferometry (BETTII) is a balloon-borne, far-infrared direct detection interferometer with a baseline of 8 m and two collectors of 50 cm. It is designed to study galactic clustered star formation by providing spatially-resolved spectroscopy of nearby star clusters. It is being assembled and tested at NASA Goddard Space Flight Center for a first flight in Fall 2016. We report on recent progress concerning the pointing control system and discuss the overall status of the project as it gets ready forits commissioning flight

Measurements of the Temperature and E-Mode Polarization of the CMB from 500 Square Degrees of SPTpol Data

We present measurements of the $E$-mode polarization angular auto-power spectrum ($EE$) and temperature-$E$-mode cross-power spectrum ($TE$) of the cosmic microwave background (CMB) using 150 GHz data from three seasons of SPTpol observations. We report the power spectra over the spherical harmonic multipole range $50 < \ell \leq 8000$, and detect nine acoustic peaks in the $EE$ spectrum with high signal-to-noise ratio. These measurements are the most sensitive to date of the $EE$ and $TE$ power spectra at $\ell > 1050$ and $\ell > 1475$, respectively. The observations cover 500 deg$^2$, a fivefold increase in area compared to previous SPTpol analyses, which increases our sensitivity to the photon diffusion damping tail of the CMB power spectra enabling tighter constraints on \LCDM model extensions. After masking all sources with unpolarized flux $>50$ mJy we place a 95% confidence upper limit on residual polarized point-source power of $D_\ell = \ell(\ell+1)C_\ell/2\pi <0.107\,\mu{\rm K}^2$ at $\ell=3000$, suggesting that the $EE$ damping tail dominates foregrounds to at least $\ell = 4050$ with modest source masking. We find that the SPTpol dataset is in mild tension with the $\Lambda CDM$ model ($2.1\,\sigma$), and different data splits prefer parameter values that differ at the $\sim 1\,\sigma$ level. When fitting SPTpol data at $\ell < 1000$ we find cosmological parameter constraints consistent with those for $Planck$ temperature. Including SPTpol data at $\ell > 1000$ results in a preference for a higher value of the expansion rate (H_0 = 71.3 \pm 2.1\,\mbox{km}\,s^{-1}\mbox{Mpc}^{-1} ) and a lower value for present-day density fluctuations ($\sigma_8 = 0.77 \pm 0.02$).Comment: Updated to match version accepted to ApJ. 34 pages, 17 figures, 6 table

In Vivo Islet Protection by a Nuclear Import Inhibitor in a Mouse Model of Type 1 Diabetes

Insulin-dependent Type 1 diabetes (T1D) is a devastating autoimmune disease that destroys beta cells within the pancreatic islets and afflicts over 10 million people worldwide. These patients face life-long risks for blindness, cardiovascular and renal diseases, and complications of insulin treatment. New therapies that protect islets from autoimmune destruction and allow continuing insulin production are needed. Increasing evidence regarding the pathomechanism of T1D indicates that islets are destroyed by the relentless attack by autoreactive immune cells evolving from an aberrant action of the innate, in addition to adaptive, immune system that produces islet-toxic cytokines, chemokines, and other effectors of islet inflammation. We tested the hypothesis that targeting nuclear import of stress-responsive transcription factors evoked by agonist-stimulated innate and adaptive immunity receptors would protect islets from autoimmune destruction.Here we show that a first-in-class inhibitor of nuclear import, cSN50 peptide, affords in vivo islet protection following a 2-day course of intense treatment in NOD mice, which resulted in a diabetes-free state for one year without apparent toxicity. This nuclear import inhibitor precipitously reduces the accumulation of islet-destructive autoreactive lymphocytes while enhancing activation-induced cell death of T and B lymphocytes derived from autoimmune diabetes-prone, non-obese diabetic (NOD) mice that develop T1D. Moreover, in this widely used model of human T1D we noted attenuation of pro-inflammatory cytokine and chemokine production in immune cells.These results indicate that a novel form of immunotherapy that targets nuclear import can arrest inflammation-driven destruction of insulin-producing beta cells at the site of autoimmune attack within pancreatic islets during the progression of T1D

A comparison of missing data methods for hypothesis tests of the treatment effect in substance abuse clinical trials: a Monte-Carlo simulation study

<p>Abstract</p> <p>Background</p> <p>Missing data due to attrition are rampant in substance abuse clinical trials. However, missing data are often ignored in the presentation of substance abuse clinical trials. This paper demonstrates missing data methods which may be used for hypothesis testing.</p> <p>Methods</p> <p>Methods involving stratifying and weighting individuals based on missing data pattern are shown to produce tests that are robust to missing data mechanisms in terms of Type I error and power. In this article, we describe several methods of combining data that may be used for testing hypotheses of the treatment effect. Furthermore, illustrations of each test's Type I error and power under different missing data percentages and mechanisms are quantified using a Monte-Carlo simulation study.</p> <p>Results</p> <p>Type I error rates were similar for each method, while powers depended on missing data assumptions. Specifically, power was greatest for the weighted, compared to un-weighted methods, especially for greater missing data percentages.</p> <p>Conclusion</p> <p>Results of this study as well as extant literature demonstrate the need for standards of design and analysis specific to substance abuse clinical trials. Given the known substantial attrition rates and concern for the missing data mechanism in substance abuse clinical trials, investigators need to incorporate missing data methods a priori. That is, missing data methods should be specified at the outset of the study and not after the data have been collected.</p

An Improved Measurement of the Secondary Cosmic Microwave Background Anisotropies from the SPT-SZ + SPTpol Surveys

We report new measurements of millimeter-wave power spectra in the angular multipole range $2000 \le \ell \le 11,000$ (angular scales $5^\prime \gtrsim \theta \gtrsim 1^\prime$). By adding 95 and 150\,GHz data from the low-noise 500 deg$^2$ SPTpol survey to the SPT-SZ three-frequency 2540 deg$^2$ survey, we substantially reduce the uncertainties in these bands. These power spectra include contributions from the primary cosmic microwave background, cosmic infrared background, radio galaxies, and thermal and kinematic Sunyaev-Zel'dovich (SZ) effects. The data favor a thermal SZ (tSZ) power at 143\,GHz of $D^{\rm tSZ}_{3000} = 3.42 \pm 0.54~ \mu {\rm K}^2$ and a kinematic SZ (kSZ) power of $D^{\rm kSZ}_{3000} = 3.0 \pm 1.0~ \mu {\rm K}^2$. This is the first measurement of kSZ power at $\ge 3\,\sigma$. We study the implications of the measured kSZ power for the epoch of reionization, finding the duration of reionization to be $\Delta z_{re} = 1.0^{+1.6}_{-0.7}$ ($\Delta z_{re}< 4.1$ at 95% confidence), when combined with our previously published tSZ bispectrum measurement.Comment: Submitted to ApJ, 16 pages. (revised portions of the introduction and description of bandpower estimation

Measurements of B-mode polarization of the cosmic microwave background from 500 square degrees of SPTpol data

We report a B-mode power spectrum measurement from the cosmic microwave background (CMB) polarization anisotropy observations made using the SPTpol instrument on the South Pole Telescope. This work uses 500 deg² of SPTpol data, a five-fold increase over the last SPTpol B-mode release. As a result, the bandpower uncertainties have been reduced by more than a factor of two, and the measurement extends to lower multipoles: 52 < ℓ < 2301. Data from both 95 and 150 GHz are used, allowing for three cross-spectra: 95 GHz × 95 GHz, 95 GHz × 150 GHz, and 150 GHz × 150 GHz. B-mode power is detected at very high significance; we find P(BB < 0) = 5.8 × 10⁻⁷¹, corresponding to a 18.1σ detection of power. With a prior on the galactic dust from Planck, WMAP and BICEP2/Keck observations, the SPTpol B-mode data can be used to set an upper limit on the tensor-to-scalar ratio, r < 0.44 at 95% confidence (the expected 1σ constraint on r given the measurement uncertainties is 0.22). We find the measured B-mode power is consistent with the Planck best-fit Λ CDM model predictions. Scaling the predicted lensing B-mode power in this model by a factor A_(lens), the data prefer A_(lens) = 1.17 ± 0.13. These data are currently the most precise measurements of B-mode power at ℓ > 320