250 research outputs found
Evidence of tropospheric layering: interleaved stratospheric and planetary boundary layer intrusions
International audienceWe present a case study of interleaving in the free troposphere of 4 layers of non-tropospheric origin, with emphasis on their residence time in the troposphere. Two layers are stratospheric intrusions at 4.7 and 2.2 km altitude with residence times of about 2 and 6.5 days, respectively. The two other layers at 7 and 3 km altitude were extracted from the maritime planetary boundary layer by warm conveyor belts associated with two extratropical lows and have residence times of about 2 and 5.75 days, respectively. The event took place over Frankfurt (Germany) in February 2002 and was observed by a commercial airliner from the MOZAIC programme with measurements of ozone, carbon monoxide and water vapour. Origins and residence times in the troposphere of these layers are documented with a trajectory and particle dispersion model. The combination of forward and backward simulations of the Lagrangian model allows the period of time during which the residence time can be assessed to be longer, as shown by the capture of the stratospheric-origin signature of the lowest tropopause fold just about to be completely mixed above the planetary boundary layer. This case study is of interest for atmospheric chemistry because it emphasizes the importance of coherent airstreams that produce laminae in the free troposphere and that contribute to the average tropospheric ozone. The interleaving of these 4 layers also provides the conditions for a valuable case study for the validation of global chemistry transport models used to perform tropospheric ozone budgets
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Quantifying sources of methane using light alkanes in the Los Angeles basin, California
Methane (CH4), carbon dioxide (CO2), carbon monoxide (CO), and C2-C5 alkanes were measured throughout the Los Angeles (L.A.) basin in May and June 2010. We use these data to show that the emission ratios of CH4/CO and CH4/CO2 in the L.A. basin are larger than expected from population-apportioned bottom-up state inventories, consistent with previously published work. We use experimentally determined CH4/CO and CH4/CO2 emission ratios in combination with annual State of California CO and CO2 inventories to derive a yearly emission rate of CH4 to the L.A. basin. We further use the airborne measurements to directly derive CH4 emission rates from dairy operations in Chino, and from the two largest landfills in the L.A. basin, and show these sources are accurately represented in the California Air Resources Board greenhouse gas inventory for CH4. We then use measurements of C2-C5 alkanes to quantify the relative contribution of other CH4 sources in the L.A. basin, with results differing from those of previous studies. The atmospheric data are consistent with the majority of CH4 emissions in the region coming from fugitive losses from natural gas in pipelines and urban distribution systems and/or geologic seeps, as well as landfills and dairies. The local oil and gas industry also provides a significant source of CH4 in the area. The addition of CH4 emissions from natural gas pipelines and urban distribution systems and/or geologic seeps and from the local oil and gas industry is sufficient to account for the differences between the top-down and bottom-up CH4 inventories identified in previously published work. Key PointsTop-down estimates of CH4 emissions in L.A. are greater than inventory estimatesEstimates of CH4 emissions from landfills in L.A. agree with CARB inventoryPipeline natural gas and/or seeps, and landfills are main sources of CH4 in L.A. ©2013. American Geophysical Union. All Rights Reserved
Air pollution during the 2003 European heat wave as seen by MOZAIC airliners
This study presents an analysis of both MOZAIC profiles above Frankfurt and Lagrangian dispersion model simulations for the 2003 European heat wave. The comparison of MOZAIC measurements in summer 2003 with the 11-year MOZAIC climatology reflects strong temperature anomalies (exceeding 4&deg;C) throughout the lower troposphere. Higher positive anomalies of temperature and negative anomalies of both wind speed and relative humidity are found for the period defined here as the heat wave (2&ndash;14 August 2003), compared to the periods before (16&ndash;31 July 2003) and after (16&ndash;31 August 2003) the heat wave. In addition, Lagrangian model simulations in backward mode indicate the suppressed long-range transport in the mid- to lower troposphere and the enhanced southern origin of air masses for all tropospheric levels during the heat wave. Ozone and carbon monoxide also present strong anomalies (both ~+40 ppbv) during the heat wave, with a maximum vertical extension reaching 6 km altitude around 11 August 2003. Pollution in the planetary boundary layer (PBL) is enhanced during the day, with ozone mixing ratios two times higher than climatological values. This is due to a combination of factors, such as high temperature and radiation, stagnation of air masses and weak dry deposition, which favour the accumulation of ozone precursors and the build-up of ozone. A negligible role of a stratospheric-origin ozone tracer has been found for the lower troposphere in this study. From 29 July to 15 August 2003 forest fires burnt around 0.3&times;10<sup>6</sup> ha in Portugal and added to atmospheric pollution in Europe. Layers with enhanced CO and NO<sub>y</sub> mixing ratios, advected from Portugal, were crossed by the MOZAIC aircraft in the free troposphere over Frankfurt. A series of forward and backward Lagrangian model simulations have been performed to investigate the origin of anomalies during the whole heat wave. European anthropogenic emissions present the strongest contribution to the measured CO levels in the lower troposphere (near 30%). This source is followed by Portuguese forest fires which affect the lower troposphere after 6 August 2003 and even the PBL around 10 August 2003. The averaged biomass burning contribution reaches 35% during the affected period. Anthropogenic CO of North American origin only marginally influences CO levels over Europe during that period
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). Until now, GPC3 mutations have been reported in isolated cases or small series and the global genotypic spectrum of these mutations has never been delineated. In this study, we review the 57 previously described GPC3 mutations and significantly expand this mutational spectrum with the description of 29 novel mutations. Compiling our data and those of the literature, we provide an overview of 86 distinct GPC3 mutations identified in 120 unrelated families, ranging from single nucleotide variations to complex genomic rearrangements and dispersed throughout the entire coding region of GPC3. The vast majority of them are deletions or truncating mutations (frameshift, nonsense mutations) predicted to result in a loss-of-function. Missense mutations are rare and the two which were functionally characterized, impaired GPC3 function by preventing GPC3 cleavage and cell surface addressing respectively. This report by describing for the first time the wide mutational spectrum of GPC3 could help clinicians and geneticists in interpreting GPC3 variants identified incidentally by high-throughput sequencing technologies and also reinforces the need for functional validation of non-truncating mutations (missense, in frame mutations, duplications)
Organic aerosol formation downwind from the Deepwater Horizon oil spill.
A large fraction of atmospheric aerosols are derived from organic compounds with various volatilities. A National Oceanic and Atmospheric Administration (NOAA) WP-3D research aircraft made airborne measurements of the gaseous and aerosol composition of air over the Deepwater Horizon (DWH) oil spill in the Gulf of Mexico that occurred from April to August 2010. A narrow plume of hydrocarbons was observed downwind of DWH that is attributed to the evaporation of fresh oil on the sea surface. A much wider plume with high concentrations of organic aerosol (>25 micrograms per cubic meter) was attributed to the formation of secondary organic aerosol (SOA) from unmeasured, less volatile hydrocarbons that were emitted from a wider area around DWH. These observations provide direct and compelling evidence for the importance of formation of SOA from less volatile hydrocarbons
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature
Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study.
Primary ciliary dyskinesia, with or without situs abnormalities, is a rare lung disease that can lead to an irreversible lung damage that may progress to respiratory failure. Lung transplant can be considered in end-stage disease. This study describes the outcomes of the largest lung transplant population for PCD and for PCD with situs abnormalities, also identified as Kartagener's syndrome. Retrospectively collected data of 36 patients who underwent lung transplantation for PCD from 1995 to 2020 with or without SA as part of the European Society of Thoracic Surgeons Lung Transplantation Working Group on rare diseases. Primary outcomes of interest included survival and freedom from chronic lung allograft dysfunction. Secondary outcomes included primary graft dysfunction within 72 h and the rate of rejection ≥A2 within the first year. Among PCD recipients with and without SA, the mean overall and CLAD-free survival were 5.9 and 5.2 years with no significant differences between groups in terms of time to CLAD (HR: 0.92, 95% CI: 0.27-3.14, p = 0.894) or mortality (HR: 0.45, 95% CI: 0.14-1.43, p = 0.178). Postoperative rates of PGD were comparable between groups; rejection grades ≥A2 on first biopsy or within the first year was more common in patients with SA. This study provides a valuable insight on international practices of lung transplantation in patients with PCD. Lung transplantation is an acceptable treatment option in this population
Cloud condensation nuclei as a modulator of ice processes in Arctic mixed-phase clouds
We propose that cloud condensation nuclei (CCN) concentrations are important for modulating ice formation of Arctic mixed-phase clouds, through modification of the droplet size distribution. Aircraft observations from the Aerosol, Radiation, and Cloud Processes affecting Arctic Climate (ARCPAC) study in northern Alaska in April 2008 allow for identification and characterization of both aerosol and trace gas pollutants, which are then compared with cloud microphysical properties. Consistent with previous studies, we find that the concentration of precipitating ice particles (>400 μm) is correlated with the concentration of large droplets (>30 μm). We are further able to link the observed microphysical conditions to aerosol pollution, originating mainly from long range transport of biomass burning emissions. The case studies demonstrate that polluted mixed-phase clouds have narrower droplet size distributions and contain 1–2 orders of magnitude fewer precipitating ice particles than clean clouds at the same temperature. This suggests an aerosol indirect effect leading to greater cloud lifetime, greater cloud emissivity, and reduced precipitation. This result is opposite to the glaciation indirect effect, whereby polluted clouds are expected to precipitate more readily due to an increase in the concentration of particles acting as ice nuclei
Vertical Profiles of Aerosol Optical and Microphysical Properties During a Rare Case of Long-range Transport of Mixed Biomass Burning-polluted Dust Aerosols from the Russian Federation-kazakhstan to Athens, Greece
Multi-wavelength aerosol Raman lidar measurements with elastic depolarization at 532 nm were combined with sun photometry during the HYGRA-CD campaign over Athens, Greece, on May-June 2014. We retrieved the aerosol optical [3 aerosol backscatter profiles (baer) at 355-532-1064 nm, 2 aerosol extinction (aaer) profiles at 355-532 nm and the aerosol linear depolarization ratio (δ) at 532 nm] and microphysical properties [effective radius (reff), complex refractive index (m), single scattering albedo (ω)]. We present a case study of a long distance transport (~3.500-4.000 km) of biomass burning particles mixed with dust from the Russian Federation-Kazakhstan regions arriving over Athens on 21-23 May 2014 (1.7-3.5 km height). On 23 May, between 2-2.75 km we measured mean lidar ratios (LR) of 35 sr (355 nm) and 42 sr (532 nm), while the mean Ångström exponent (AE) aerosol backscatter-related values (355nm/532nm and 532nm/1064nm) were 2.05 and 1.22, respectively; the mean value of δ at 532 nm was measured to be 9%. For that day the retrieved mean aerosol microphysical properties at 2-2.75 km height were: reff=0.26 μm (fine mode), reff=2.15 μm (coarse mode), m=1.36+0.00024i, ω=0.999 (355 nm, fine mode), ω=0.992(355 nm, coarse mode), ω=0.997 (532 nm, fine mode), and ω=0.980 (532 nm, coarse mode)
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