Investigation of genetic cause of hearing loss in 28 autosomal dominant families within the Newfoundland founder population

The purpose of this study was to determine the genetic cause of hearing loss in 28 Newfoundland families with Autosomal Dominant hearing loss. AD hearing loss is highly genetically heterogeneous, and is mainly associated with a late onset, progressive phenotype. After a comprehensive literature search, genotype-phenotype evaluations, and a functional candidate gene approach, all 28 probands were sequenced to identify mutations in four genes known to cause autosomal dominant hearing loss, COCH, KCNQ4, TECTA, and MYO1A. First, a known Dutch founder mutation within exon 4 of COCH, c.151 C>CT, was found in a Newfoundland proband of Family 2094. All affected family members (n=7) shared this mutation, while unaffected members did not. This is only the second family found to harbor this mutation outside of Europe. This mutation is strongly associated with severe vestibular decline. Affected Family 2094 members carrying the mutation do present vestibular decline in the form of vertigo and balance difficulties. As this mutation is considered to be a Dutch founder mutation, DNA samples from a Dutch p.P51P/S family were genotyped and compared with Family 2094 genotypes. Fragment analysis confirmed haplotype sharing of five markers closely bordering the c.151 C>CT mutation between Newfoundland and Dutch mutation carriers. Second, a novel 3bp deletion in exon 5 of KCNQ4 was found in 13 affected members of Family 2071. While the mutation was not seen in four other affected family members, audiology test results suggest that these four individuals are phenocopies. Sequencing of the full KCNQ4 gene was done in all individuals, to rule out another mutation on the same gene. Further investigation, through the construction of an intragenic haplotype, did not point to any further hearing loss associated variants within KCNQ4, and confirmed that all deletion carriers share a common hearing loss haplotype and deletion. Third, a nonsense mutation was found in exon 4 of MYO1A in the proband of Newfoundland Family 2102. This is a C→T nucleotide substitution (c.2435 C>CT) that causes a change (p.R93X) in the motor domain of myosin 1A. Of four individuals in Family 2102, three were found to carry the p.R93X mutation, while one unaffected sibling was not. This mutation has been reported once before in a small Italian family. No mutations were discovered in the TECTA gene. When each of the causative mutations in COCH, KCNQ4, and MYO1A was detected, additional Newfoundland hearing loss probands were screened, to rule out the possibility of a founder mutation. In no case were additional mutation carriers identified. While no founder mutations were discovered in this study, the genetic cause of hearing loss was identified in three families

Development of Aerosol Models for Radiative Flux Calculations at ARM Sites

The direct radiative forcing (DRF) of aerosols, the change in net radiative flux due to aerosols in non-cloudy conditions, is an essential quantity for understanding the human impact on climate change. Our work has addressed several key issues that determine the accuracy, and identify the uncertainty, with which aerosol DRF can be modeled. These issues include the accuracy of several radiative transfer models when compared to measurements and to each other in a highly controlled closure study using data from the ARM 2003 Aerosol IOP. The primary focus of our work has been to determine an accurate approach to assigning aerosol properties appropriate for modeling over averaged periods of time and space that represent the observed regional variability of these properties. We have also undertaken a comprehensive analysis of the aerosol properties that contribute most to uncertainty in modeling aerosol DRF, and under what conditions they contribute the most uncertainty. Quantification of these issues enables the community to better state accuracies of radiative forcing calculations and to concentrate efforts in areas that will decrease uncertainties in these calculations in the future

An assessment of aerosol‐cloud interactions in marine stratus clouds based on surface remote sensing

An assessment of aerosol-cloud interactions (ACI) from ground-based remote sensing under coastal stratiform clouds is presented. The assessment utilizes a long-term, high temporal resolution data set from the Atmospheric Radiation Measurement (ARM) Program deployment at Pt. Reyes, California, United States, in 2005 to provide statistically robust measures of ACI and to characterize the variability of the measures based on variability in environmental conditions and observational approaches. The average ACIN (= dlnNd/dlna, the change in cloud drop number concentration with aerosol concentration) is 0.48, within a physically plausible range of 0–1.0. Values vary between 0.18 and 0.69 with dependence on (1) the assumption of constant cloud liquid water path (LWP), (2) the relative value of cloud LWP, (3) methods for retrieving Nd, (4) aerosol size distribution, (5) updraft velocity, and (6) the scale and resolution of observations. The sensitivity of the local, diurnally averaged radiative forcing to this variability in ACIN values, assuming an aerosol perturbation of 500 c-3 relative to a background concentration of 100 cm-3, ranges betwee-4 and -9 W -2. Further characterization of ACI and its variability is required to reduce uncertainties in global radiative forcing estimates

Aerosol Indirect Effects on the Nighttime Arctic Ocean Surface from Thin, Predominantly Liquid Clouds

Aerosol indirect effects have potentially large impacts on the Arctic Ocean surface energy budget, but model estimates of regional-scale aerosol indirect effects are highly uncertain and poorly validated by observations. Here we demonstrate a new way to quantitatively estimate aerosol indirect effects on a regional scale from remote sensing observations. In this study, we focus on nighttime, optically thin, predominantly liquid clouds. The method is based on differences in cloud physical and microphysical characteristics in carefully selected clean, average, and aerosol-impacted conditions. The cloud subset of focus covers just approximately 5 % of cloudy Arctic Ocean regions, warming the Arctic Ocean surface by approximately 1-1.4 W m(exp -2) regionally during polar night. However, within this cloud subset, aerosol and cloud conditions can be determined with high confidence using CALIPSO and CloudSat data and model output. This cloud subset is generally susceptible to aerosols, with a polar nighttime estimated maximum regionally integrated indirect cooling effect of approximately 0.11 W m(exp 2) at the Arctic sea ice surface (approximately 8 % of the clean background cloud effect), excluding cloud fraction changes. Aerosol presence is related to reduced precipitation, cloud thickness, and radar reflectivity, and in some cases, an increased likelihood of cloud presence in the liquid phase. These observations are inconsistent with a glaciation indirect effect and are consistent with either a deactivation effect or less-efficient secondary ice formation related to smaller liquid cloud droplets. However, this cloud subset shows large differences in surface and meteorological forcing in shallow and higher-altitude clouds and between sea ice and open-ocean regions. For example, optically thin, predominantly liquid clouds are much more likely to overlay another cloud over the open ocean, which may reduce aerosol indirect effects on the surface. Also, shallow clouds over open ocean do not appear to respond to aerosols as strongly as clouds over stratified sea ice environments, indicating a larger influence of meteorological forcing over aerosol microphysics in these types of clouds over the rapidly changing Arctic Ocean

Aerosol direct radiative effects over the northwest Atlantic, northwest Pacific, and North Indian Oceans: estimates based on in-situ chemical and optical measurements and chemical transport modeling

International audienceThe largest uncertainty in the radiative forcing of climate change over the industrial era is that due to aerosols, a substantial fraction of which is the uncertainty associated with scattering and absorption of shortwave (solar) radiation by anthropogenic aerosols in cloud-free conditions (IPCC, 2001). Quantifying and reducing the uncertainty in aerosol influences on climate is critical to understanding climate change over the industrial period and to improving predictions of future climate change for assumed emission scenarios. Measurements of aerosol properties during major field campaigns in several regions of the globe during the past decade are contributing to an enhanced understanding of atmospheric aerosols and their effects on light scattering and climate. The present study, which focuses on three regions downwind of major urban/population centers (North Indian Ocean (NIO) during INDOEX, the Northwest Pacific Ocean (NWP) during ACE-Asia, and the Northwest Atlantic Ocean (NWA) during ICARTT), incorporates understanding gained from field observations of aerosol distributions and properties into calculations of perturbations in radiative fluxes due to these aerosols. This study evaluates the current state of observations and of two chemical transport models (STEM and MOZART). Measurements of burdens, extinction optical depth (AOD), and direct radiative effect of aerosols (DRE ? change in radiative flux due to total aerosols) are used as measurement-model check points to assess uncertainties. In-situ measured and remotely sensed aerosol properties for each region (mixing state, mass scattering efficiency, single scattering albedo, and angular scattering properties and their dependences on relative humidity) are used as input parameters to two radiative transfer models (GFDL and University of Michigan) to constrain estimates of aerosol radiative effects, with uncertainties in each step propagated through the analysis. Constraining the radiative transfer calculations by observational inputs increases the clear-sky, 24-h averaged AOD (34±8%), top of atmosphere (TOA) DRE (32±12%), and TOA direct climate forcing of aerosols (DCF ? change in radiative flux due to anthropogenic aerosols) (37±7%) relative to values obtained with "a priori" parameterizations of aerosol loadings and properties (GFDL RTM). The resulting constrained TOA DCF is ?3.3±0.47, ?14±2.6, ?6.4±2.1 Wm?2 for the NIO, NWP, and NWA, respectively. Constraining the radiative transfer calculations by observational inputs reduces the uncertainty range in the DCF in these regions relative to global IPCC (2001) estimates by a factor of approximately 2. Such comparisons with observations and resultant reductions in uncertainties are essential for improving and developing confidence in climate model calculations incorporating aerosol forcing

Characteristics, sources, and transport of aerosols measured in spring 2008 during the aerosol, radiation, and cloud processes affecting Arctic Climate (ARCPAC) Project

We present an overview of the background, scientific goals, and execution of the Aerosol, Radiation, and Cloud Processes affecting Arctic Climate (ARCPAC) project of April 2008. We then summarize airborne measurements, made in the troposphere of the Alaskan Arctic, of aerosol particle size distributions, composition, and optical properties and discuss the sources and transport of the aerosols. The aerosol data were grouped into four categories based on gas-phase composition. First, the background troposphere contained a relatively diffuse, sulfate-rich aerosol extending from the top of the sea-ice inversion layer to 7.4 km altitude. Second, a region of depleted (relative to the background) aerosol was present within the surface inversion layer over sea-ice. Third, layers of dense, organic-rich smoke from open biomass fires in southern Russia and southeastern Siberia were frequently encountered at all altitudes from the top of the inversion layer to 7.1 km. Finally, some aerosol layers were dominated by components originating from fossil fuel combustion. <br></br> Of these four categories measured during ARCPAC, the diffuse background aerosol was most similar to the average springtime aerosol properties observed at a long-term monitoring site at Barrow, Alaska. The biomass burning (BB) and fossil fuel layers were present above the sea-ice inversion layer and did not reach the sea-ice surface during the course of the ARCPAC measurements. The BB aerosol layers were highly scattering and were moderately hygroscopic. On average, the layers produced a noontime net heating of ~0.1 K day<sup>−1</sup> between 3 and 7 km and a slight cooling at the surface. The ratios of particle mass to carbon monoxide (CO) in the BB plumes, which had been transported over distances >5000 km, were comparable to the high end of literature values derived from previous measurements in wildfire smoke. These ratios suggest minimal precipitation scavenging and removal of the BB particles between the time they were emitted and the time they were observed in dense layers above the sea-ice inversion layer

The relative impact of cloud condensation nuclei and ice nucleating particle concentrations on phase partitioning in Arctic mixed-phase stratocumulus clouds

This study investigates the interactions between cloud dynamics and aerosols in idealized large-eddy simulations (LES) of Arctic mixed-phase stratocumulus clouds (AMPS) observed at Oliktok Point, Alaska, in April 2015. This case was chosen because it allows the cloud to form in response to radiative cooling starting from a cloud-free state, rather than requiring the cloud ice and liquid to adjust to an initial cloudy state. Sensitivity studies are used to identify whether there are buffering feedbacks that limit the impact of aerosol perturbations. The results of this study indicate that perturbations in ice nucleating particles (INPs) dominate over cloud condensation nuclei (CCN) perturbations; i.e., an equivalent fractional decrease in CCN and INPs results in an increase in the cloud-top longwave cooling rate, even though the droplet effective radius increases and the cloud emissivity decreases. The dominant effect of ice in the simulated mixed-phase cloud is a thinning rather than a glaciation, causing the mixed-phase clouds to radiate as a grey body and the radiative properties of the cloud to be more sensitive to aerosol perturbations. It is demonstrated that allowing prognostic CCN and INPs causes a layering of the aerosols, with increased concentrations of CCN above cloud top and increased concentrations of INPs at the base of the cloud-driven mixed layer. This layering contributes to the maintenance of the cloud liquid, which drives the dynamics of the cloud system.</p

Aerosol indirect effects

Aerosol indirect effects continue to constitute one of the most important uncertainties for anthropogenic climate perturbations. Within the international AEROCOM initiative, the representation of aerosol-cloud-radiation interactions in ten different general circulation models (GCMs) is evaluated using three satellite datasets. The focus is on stratiform liquid water clouds since most GCMs do not include ice nucleation effects, and none of the model explicitly parameterises aerosol effects on convective clouds. We compute statistical relationships between aerosol optical depth (tau a) and various cloud and radiation quantities in a manner that is consistent between the models and the satellite data. cloud droplet number concentration (N d) compares relatively well to the satellite data at least over the ocean. The relationship between (tau a) and liquid water path is simulated much too strongly by the models. This suggests that the implementation of the second aerosol indirect effect mainly in terms of an autoconversion parameterisation has to be revisited in the GCMs. A positive relationship between total cloud fraction (fcld) and tau a as found in the satellite data is simulated by the majority of the models, albeit less strongly than that in the satellite data in most of them. In a discussion of the hypotheses proposed in the literature to explain the satellite-derived strong fcld–tau a relationship, our results indicate that none can be identified as a unique explanation. Relationships similar to the ones found in satellite data between tau a and cloud top temperature or outgoing long-wave radiation (OLR) are simulated by only a few GCMs. The GCMs that simulate a negative OLR - tau a relationship show a strong positive correlation between tau a and fcld. The short-wave total aerosol radiative forcing as simulated by the GCMs is strongly influenced by the simulated anthropogenic fraction of tau a, and parameterisation assumptions such as a lower bound on Nd. Nevertheless, the strengths of the statistical relationships are good predictors for the aerosol forcings in the models. An estimate of the total short-wave aerosol forcing inferred from the combination of these predictors for the modelled forcings with the satellite-derived statistical relationships yields a global annual mean value of −1.5±0.5Wm−2. In an alternative approach, the radiative flux perturbation due to anthropogenic aerosols can be broken down into a component over the cloud-free portion of the globe (approximately the aerosol direct effect) and a component over the cloudy portion of the globe (approximately the aerosol indirect effect). An estimate obtained by scaling these simulated clearand cloudy-sky forcings with estimates of anthropogenic tau a and satellite-retrieved Nd–tau a regression slopes, respectively, yields a global, annual-mean aerosol direct effect estimate of −0.4±0.2Wm−2 and a cloudy-sky (aerosol indirect effect) estimate of −0.7±0.5Wm−2, with a total estimate of −1.2±0.4Wm−2

A Bird’s Eye View: Development of an Operational ARM Unmanned Aerial Systems Capability for Atmospheric Research in Arctic Alaska

Unmanned aerial capabilities offer exciting new perspectives on the Arctic atmosphere and the US Department of Energy is working with partners to offer such perspectives to the research community. Thorough understanding of aerosols, clouds, boundary layer structure and radiation is required to improve representation of the Arctic atmosphere in weather forecasting and climate models. To develop such understanding, new perspectives are needed to provide details on the vertical structure and spatial variability of key atmospheric properties, along with information over difficult-to-reach surfaces such as newly-forming sea ice. Over the last three years, the US Department of Energy (DOE) has supported various flight campaigns using unmanned aircraft systems (UAS, also known as UAVs and drones) and tethered balloon systems (TBS) at Oliktok Point, Alaska. These activities have featured in-situ measurements of thermodynamic state, turbulence, radiation, aerosol properties, cloud microphysics and turbulent fluxes to provide a detailed characterization of the lower atmosphere. Alongside a suite of active and passive ground-based sensors and radiosondes deployed by the DOE Atmospheric Radiation Measurement (ARM) program through the third ARM Mobile Facility (AMF-3), these flight activities demonstrate the ability of such platforms to provide critically-needed information. In addition to providing new and unique datasets, lessons learned during initial campaigns have assisted toward the development of an exciting new community resource