Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: A prospective, longitudinal study

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.CGSP received funding from the National Human Genome Research Institute (Ethical, Legal, and Social Issues Branch) (R01 HG003871, http://projectreporter.nih.gov); and from the Brocher Foundation (http://www.brocher.ch/en/brocher-fundati???on-in-brief/) in support of this research. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Effect of Pre-test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

Empirical data on genetic counseling outcomes in the deaf population are needed to better serve this population. This study was an examination of genetics knowledge before and after culturally and linguistically appropriate pre-test genetic counseling in a diverse deaf adult sample. Individuals ≥18 years old with early-onset sensorineural deafness were offered connexin-26/30 testing and genetic counseling. Participants completed questionnaires containing 10 genetics knowledge items at baseline and following pre-test genetic counseling. The effects of genetic counseling, prior beliefs about etiology, and participant’s preferred language on genetics knowledge scores were assessed (n = 244). Pre-test genetic counseling (p = .0007), language (p < .0001), prior beliefs (p < .0001), and the interaction between counseling and beliefs (p = .035) were predictors of genetics knowledge. American Sign Language (ASL)-users and participants with “non-genetic/unknown” prior beliefs had lower knowledge scores than English-users and participants with “genetic” prior beliefs, respectively. Genetics knowledge improved after genetic counseling regardless of participants’ language; knowledge change was greater for the “non-genetic/unknown” beliefs group than the “genetic” beliefs group. ASL-users’ lower knowledge scores are consistent with evidence that ethnic and cultural minority groups have less genetics knowledge, perhaps from exposure and access disparities. Culturally and linguistically appropriate pre-test genetic counseling significantly improved deaf individuals’ genetics knowledge. Assessing deaf individuals’ prior beliefs is important for enhancing genetics knowledge

A Mini-PET beamline for optimized proton delivery to the ISOTRACE™ target system

Introduction The ISOTRACE™ Super-Conducting Cyclotron is PMB-Alcen’s redeveloped and modernized version of Oxford Instrument’s OSCAR superconducting cyclotron [1]. Its extracted 80+ mi-croamperes of 12 MeV protons are used for the production of PET radioisotopes. Following the philosophy of Dickie, Stevenson, Szlavik [2] for minimizing dose to personnel, and as developed by Dehnel et al [3,4], and Stokely et al [5], the ISOTRACE™ shall utilize an innovative, light-weight, integrated and self-supporting Mini-Beamline. This permits the relatively high residual radiation fields around PET targets to be moved ~1 metre away from the cyclotron, and facilitates the use of local shielding (around the targets) that limits prompt gammas and neutrons, but more importantly attenuates the residual target radiation, so that maintenance/research staff can work on the cyclotron in a relatively low activity environment. In addition, the mini-beamline for PET utilizes a compound quadrupole/steerer doublet that permits active and dynamic focusing/steering of the extracted proton beam for optimized production and minimized losses [3], so it improves on the successful work of Theroux et al [6]. The integrated beamline unit is extremely small, so that it is very unlike bulky traditional PET and SPECT beamlines that require substantial support structures, such as described by Dehnel in [7,8]. Material and Methods The ISOTRACE™ cyclotron is pictured in FIG. 1. The exit port flange and gate valve to which the integrated mini-beamline for PET shall be mounted is shown. Immediately upstream of the exit port, hidden from view, is a 4 jaw collimator (called BPI for Beam Position Indicator) with spilled beam current readbacks to the control system. TABLE 1 shows the nominal beam emittance and Twiss parameter values at the exit port flange location. This ion-optical information is necessary to simulate ion beam transport, develop the mini-beamline, and determine a nominal tune (i.e. magnet settings). Results and Conclusion TABLE 2 shows the ion-optical system parameters. FIGS. 2 and 3 show the horizontal and vertical beam profiles. The Horizontally focusing Quadrupole magnet (HQ), and Vertically focusing Quadrupole magnet (VQ) aperture diameter, 33 mm, was chosen to give sufficient beam acceptance. The focusing strength is a function of BL, so the effective length, L = 150 mm, was chosen to ensure Bmax less than 0.3 Tesla, while keeping overall magnet mass down. The quad-rupole magnets are fitted with water-cooled compound coils in which the copper/mylar strip wound portion of each coil is a winding for the quadrupole focusing function, and the wire wound portion is for the steering function. To increase beam acceptance and provide additional section strength for the pipe support function, the internal aperture of the low-activation aluminium beam pipe and the external shape are in the shape of a cross. FIG. 4 shows the beam crosssection at the mid-point of the downstream quadrupole magnet, and illustrates the additional acceptance as compared to a round beampipe. In order to machine the interior profile, the pipe is comprised of two premachined pieces that are friction stirwelded together. FIG. 5 is an isometric of the mini-beamline for PET. The four upstream HQ compound coils are excited with a 75A power supply for the horizontally focusing quadrupole magnet function, and a ± 10A power supply for a vertical steering function. The same power supplies are used for the four downstream VQ compound coils for the purpose of a vertically focusing quadrupole magnet function and horizontal steering function

Search for free-floating planetary-mass objects in the Pleiades

(Abridged) We aim at identifying the least massive population of the solar metallicity, young (120 Myr), nearby (133.5 pc) Pleiades star cluster with the ultimate goal of understanding the physical properties of intermediate-age, free-floating, low-mass brown dwarfs and giant planetary-mass objects, and deriving the cluster substellar mass function across the deuterium-burning mass limit at ~0.012 Msol. We performed a deep photometric and astrometric J- and H-band survey covering an area of ~0.8 deg^2. The images with completeness and limiting magnitudes of J,H ~ 20.2 and ~ 21.5 mag were acquired ~9 yr apart (proper motion precision of +/-6 mas/yr). J- and H-band data were complemented with Z, K, and mid-infrared magnitudes up to 4.6 micron coming from UKIDSS, WISE, and follow-up observations of our own. Pleiades member candidates were selected to have proper motions compatible with that of the cluster, and colors following the known Pleiades sequence in the interval J = 15.5-8.8 mag, and Z_UKIDSS - J > 2.3 mag or Z nondetections for J > 18.8 mag. We found a neat sequence of astrometric and photometric Pleiades substellar member candidates in the intervals J = 15.5-21.2 mag and ~0.072-0.008 Msol. The faintest objects show very red near- and mid-infrared colors exceeding those of field high-gravity dwarfs by >0.5 mag. The Pleiades photometric sequence does not show any color turn-over because of the presence of photospheric methane absorption down to J = 20.3 mag, which is about 1 mag fainter than predicted by the color-computed models. Pleiades brown dwarfs have a proper motion dispersion of 6.4-7.5 mas/yr and are dynamically relaxed at the age of the cluster. The Pleiades mass function extends down to the deuterium burning-mass threshold, with a slope fairly similar to that of other young star clusters and stellar associations.Comment: Accepted for publication in A&A. 16 page

On the Purity of the ZZ Ceti Instability Strip: Discovery of More Pulsating DA White Dwarfs on the Basis of Optical Spectroscopy

We report the discovery of two new ZZ Ceti pulsators, LP 133-144 and HE 1258+0123, selected on the basis of model atmosphere fits to optical spectroscopic data. The atmospheric parameters for LP 133-144, Teff = 11,800 +/- 200 K and log g = 7.87 +/- 0.05, and for HE 1258+0123, Teff = 11,410 +/- 200 K and log g = 8.04 +/- 0.05, place them within the empirical boundaries of the ZZ Ceti instability strip. This brings the number of known ZZ Ceti stars to a total of 36, a quarter of which have now been discovered using the spectroscopic approach for estimating their atmospheric parameters. This method has had a 100% success rate so far in predicting the variability of candidate ZZ Ceti stars. We have also analyzed additional spectra of known nonvariable white dwarfs in the vicinity of the ZZ Ceti instability strip. Our study further strengthens the idea that ZZ Ceti stars occupy a pure region in the log g-Teff plane, a region where no nonvariable stars are found. This result supports the thesis that ZZ Ceti pulsators represent a phase through which all DA stars must evolve.Comment: 11 pages, 4 figures, accepted for publication in the Astrophysical Journa

Calcium-dependent release of adenosine and uridine nucleotides from A549 cells

Extracellular nucleotides play an important role in lung defense, but the release mechanism and relative abundance of different nucleotide species secreted by lung epithelia are not well defined. In this study, to minimize cell surface hydrolysis, we used a low-volume, flow-through chamber and examined adenosine and uridine nucleotide concentrations in perfusate aliquots of human lung A549 cells challenged by 50% hypotonic shock. Adenosine triphosphate (ATP), adenosine diphosphate (ADP), adenosine monophosphate (AMP), and adenosine (Ado) were quantified in high-performance liquid chromatography (HPLC) analysis of fluorescent etheno derivatives, and uridine triphosphate (UTP) and uridine diphosphate (UDP) were measured using HPLC-coupled radioenzymatic assays. After the onset of hypotonic shock, ATP, ADP, UTP, and UDP in the perfusates increased markedly and peaked at approximately 2.5 min, followed by a gradual decay in the next 15–20 min; peak changes in Ado and AMP were relatively minor. The peak concentrations and fold increment (in parentheses) were: 34 ± 13 nM ATP (5.6), 11 ± 5 nM ADP (3.7), 3.3 ± 1.2 nM AMP (1.4), 23 ± 7 nM Ado (2.1), 21 nM UTP (>7), and 11 nM UDP (27). Nucleotide release was almost completely abolished from cells loaded with the calcium chelator 1,2-bis(2-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid (BAPTA). Under isotonic conditions, elevation of intracellular calcium with the calcium ionophore ionomycin (5 μM, 3 min) also released nucleotides with kinetics and relative abundance as above, albeit less robust. ADP:ATP (1:3) and UDP:UTP (1:2) ratios in perfusates from stimulated cells were markedly higher than the cytosolic ratios of these species, suggesting that a nucleotide diphosphate (NDP)-rich compartment, e.g., the secretory pathway, contributed to nucleotide release. Laser confocal microscopy experiments illustrated increased FM1-43 uptake into the plasma membrane upon hypotonic shock or ionomycin treatment, consistent with enhanced vesicular exocytosis under these conditions. In summary, our results strongly suggest that calcium-dependent exocytosis is responsible, at least in most part, for adenosine and uridine nucleotide release from A549 cells

A new L-dwarf member of the moderately metal-poor triple system HD 221356

We report on the discovery of a fourth component in the HD 221356 star system, previously known to be formed by an F8V, slightly metal-poor primary ([Fe/H]=-0.26), and a distant M8V+L3V pair. In our ongoing common proper motion search based on VISTA Hemisphere Survey (VHS) and 2MASS catalogues, we have detected a faint (J=13.76+/-0.04 mag) co-moving companion of the F8 star located at angular separation of 12.13+/-0.18 arcsec (position angle of 221.8+/-1.7), corresponding to a projected distance of ~312 AU at 26 pc. Near-infrared spectroscopy of the new companion, covering the 1.5-2.4 micron wavelength range with a resolving power of R~600, indicates an L1+/-1 spectral type. Using evolutionary models the mass of the new companion is estimated at ~0.08 solar masses, which places the object close to the stellar-substellar borderline. This multiple system provides an interesting example of objects with masses slightly above and below the hydrogen burning mass limit. The low mass companions of HD 221356 have slightly bluer colours than field dwarfs with similar spectral type, which is likely a consequence of the sub-solar metallicity of the system.Comment: 7 pages, 4 figures, accepted for publication in MNRA