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There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.

Volatile organic compounds (VOCs) are emitted from many sources, including wildland fire. VOCs have received heightened emphasis due to such gases' influential role in the atmosphere, as well as possible health effects. We have used extractive infrared (IR) spectroscopy on recent prescribed burns in longleaf pine stands and herein report the first detection of five compounds using this technique. The newly reported IR detections include naphthalene, methyl nitrite, allene, acrolein and acetaldehyde. We discuss the approaches used for detection, particularly the software methods needed to fit the analyte and multiple (interfering) spectral components within the selected spectral micro-window(s). We also discuss the method's detection limits and related parameters such as spectral resolution.

Project RC-1649, Advanced Chemical Measurement of Smoke from DoD-prescribed Burns was undertaken to use advanced instrumental techniques to study in detail the particulate and vapor-phase chemical composition of the smoke that results from prescribed fires used as a land management tool on DoD bases, particularly bases in the southeastern U.S. The statement of need (SON) called for (1) improving characterization of fuel consumption and (2) improving characterization of air emissions under both flaming and smoldering conditions with respect to ... volatile organic compounds, heavy metals, and reactive gases. The measurements and fuels were from several bases throughout the southeast (Camp Lejeune, Ft. Benning, and Ft. Jackson) and were carried out in collaboration and conjunction with projects 1647 (models) and 1648 (particulates, SW bases).

We report trace-gas emission factors from three pine-understory prescribed fires in South Carolina, US measured during the fall of 2011. The fires were more intense than many prescribed burns because the fuels included mature pine stands not subjected to prescribed fire in decades that were lit following an extended drought. Emission factors were measured with a fixed open-path Fourier transform infrared (OP-FTIR) system that was deployed on the fire control lines. We compare these emission factors to those measured with a roving, point sampling, land-based FTIR and an airborne FTIR deployed on the same fires. We also compare to emission factors measured by a similar OP-FTIR system deployed on savanna fires in Africa. The data suggest that the method used to sample smoke can strongly influence the relative abundance of the emissions that are observed. The majority of fire emissions were lofted in the convection column and were sampled by the airborne FTIR. The roving, ground-based, point sampling FTIR measured the contribution of individual residual smoldering combustion fuel elements scattered throughout the burn site. The OP-FTIR provided a ~ 30 m path-integrated sample of emissions transported to the fixed path via complex ground-level circulation. The OP-FTIR typically probed two distinct combustion regimes, "flaming-like" (immediately after adjacent ignition and before the adjacent plume achieved significant vertical development) and "smoldering-like." These two regimes are denoted "early" and "late", respectively. The path-integrated sample of the ground-level smoke layer adjacent to the fire from the OP-FTIR provided our best estimate of fire-line exposure to smoke for wildland fire personnel. We provide a table of estimated fire-line exposures for numerous known air toxics based on synthesizing results from several studies. Our data suggest that peak exposures are more likely to challenge permissible exposure limits for wildland fire personnel than shift-ave

We report trace-gas emission factors from three pine-understory prescribed fires in South Carolina, US measured during the fall of 2011. The fires were more intense than many prescribed burns because the fuels included mature pine stands not subjected to prescribed fire in decades that were lit following an extended drought. Emission factors were measured with a fixed open-path Fourier transform infrared (OP-FTIR) system that was deployed on the fire control lines. We compare these emission factors to those measured with a roving, point sampling, land-based FTIR and an airborne FTIR deployed on the same fires. We also compare to emission factors measured by a similar OP-FTIR system deployed on savanna fires in Africa. The data suggest that the method used to sample smoke can strongly influence the relative abundance of the emissions that are observed. The majority of fire emissions were lofted in the convection column and were sampled by the airborne FTIR. The roving, ground-based, point sampling FTIR measured the contribution of individual residual smoldering combustion fuel elements scattered throughout the burn site. The OP-FTIR provided a ~ 30 m path-integrated sample of emissions transported to the fixed path via complex ground-level circulation. The OP-FTIR typically probed two distinct combustion regimes, "flaming-like" (immediately after adjacent ignition and before the adjacent plume achieved significant vertical development) and "smoldering-like." These two regimes are denoted "early" and "late", respectively. The path-integrated sample of the ground-level smoke layer adjacent to the fire from the OP-FTIR provided our best estimate of fire-line exposure to smoke for wildland fire personnel. We provide a table of estimated fire-line exposures for numerous known air toxics based on synthesizing results from several studies. Our data suggest that peak exposures are more likely to challenge permissible exposure limits for wildland fire personnel than shift-ave

An extensive program of experiments focused on biomass burning emissions began with a laboratory phase in which vegetative fuels commonly consumed in prescribed fires were collected in the southeastern and southwestern US and burned in a series of 71 fires at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The particulate matter (PM2.5) emissions were measured by gravimetric filter sampling with subsequent analysis for elemental carbon (EC), organic carbon (OC), and 38 elements. The trace gas emissions were measured by an open-path Fourier transform infrared (OP-FTIR) spectrometer, proton-transfer-reaction mass spectrometry (PTR-MS), proton-transfer ion-trap mass spectrometry (PIT-MS), negative-ion proton-transfer chemical-ionization mass spectrometry (NI-PT-CIMS), and gas chromatography with MS detection (GC-MS). 204 trace gas species (mostly non-methane organic compounds (NMOC)) were identified and quantified with the above instruments. Many of the 182 species quantified by the GC-MS have rarely, if ever, been measured in smoke before. An additional 153 significant peaks in the unit mass resolution mass spectra were quantified, but either could not be identified or most of the signal at that molecular mass was unaccounted for by identifiable species. In a second, "field" phase of this program, airborne and ground-based measurements were made of the emissions from prescribed fires that were mostly located in the same land management units where the fuels for the lab fires were collected. A broad variety, but smaller number of species (21 trace gas species and PM2.5) was measured on 14 fires in chaparral and oak savanna in the southwestern US, as well as pine forest understory in the southeastern US and Sierra Nevada mountains of California. The field measurements of emission factors (EF) are useful both for modeling and to examine the representativeness of our lab fire EF. The lab EF/field EF ratio for the pine understory fuels was not statisti

An extensive program of experiments focused on biomass burning emissions began with a laboratory phase in which vegetative fuels commonly consumed in prescribed fires were collected in the southeastern and southwestern US and burned in a series of 71 fires at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The particulate matter (PM2.5) emissions were measured by gravimetric filter sampling with subsequent analysis for elemental carbon (EC), organic carbon (OC), and 38 elements. The trace gas emissions were measured by an open-path Fourier transform infrared (OP-FTIR) spectrometer, proton-transfer-reaction mass spectrometry (PTR-MS), proton-transfer ion-trap mass spectrometry (PIT-MS), negative-ion proton-transfer chemical-ionization mass spectrometry (NI-PT-CIMS), and gas chromatography with MS detection (GC-MS). 204 trace gas species (mostly non-methane organic compounds (NMOC)) were identified and quantified with the above instruments. Many of the 182 species quantified by the GC-MS have rarely, if ever, been measured in smoke before. An additional 153 significant peaks in the unit mass resolution mass spectra were quantified, but either could not be identified or most of the signal at that molecular mass was unaccounted for by identifiable species. In a second, "field" phase of this program, airborne and ground-based measurements were made of the emissions from prescribed fires that were mostly located in the same land management units where the fuels for the lab fires were collected. A broad variety, but smaller number of species (21 trace gas species and PM2.5) was measured on 14 fires in chaparral and oak savanna in the southwestern US, as well as pine forest understory in the southeastern US and Sierra Nevada mountains of California. The field measurements of emission factors (EF) are useful both for modeling and to examine the representativeness of our lab fire EF. The lab EF/field EF ratio for the pine understory fuels was not statisti

We have measured emission factors for 19 tracegas species and particulate matter (PM2.5) from 14 prescribedfires in chaparral and oak savanna in the southwesternUS, as well as conifer forest understory in the southeasternUS and Sierra Nevada mountains of California. These arelikely the most extensive emission factor field measurementsfor temperate biomass burning to date and the only publishedemission factors for temperate oak savanna fuels. This studyhelps to close the gap in emissions data available for temperatezone fires relative to tropical biomass burning. Wepresent the first field measurements of the biomass burningemissions of glycolaldehyde, a possible precursor for aqueousphase secondary organic aerosol formation. We alsomeasured the emissions of phenol, another aqueous phasesecondary organic aerosol precursor. Our data confirm previousobservations that urban deposition can impact the NOxemission factors and thus subsequent plume chemistry. Fortwo fires, we measured both the emissions in the convectivesmoke plume from our airborne platform and the unloftedresidual smoldering combustion emissions with our groundbasedplatform. The smoke from residual smoldering combustionwas characterized by emission factors for hydrocarbonand oxygenated organic species that were up to ten timeshigher than in the lofted plume, including high 1,3-butadieneand isoprene concentrations which were not observed in thelofted plume. This should be considered in modeling the air quality impacts for smoke that disperses at ground level. Wealso show that the often ignored unlofted emissions can significantlyimpact estimates of total emissions. Preliminaryevidence suggests large emissions of monoterpenes in theresidual smoldering smoke. These data should lead to animproved capacity to model the impacts of biomass burningin similar temperate ecosystems.

We have measured emission factors for 19 tracegas species and particulate matter (PM2.5) from 14 prescribedfires in chaparral and oak savanna in the southwesternUS, as well as conifer forest understory in the southeasternUS and Sierra Nevada mountains of California. These arelikely the most extensive emission factor field measurementsfor temperate biomass burning to date and the only publishedemission factors for temperate oak savanna fuels. This studyhelps to close the gap in emissions data available for temperatezone fires relative to tropical biomass burning. Wepresent the first field measurements of the biomass burningemissions of glycolaldehyde, a possible precursor for aqueousphase secondary organic aerosol formation. We alsomeasured the emissions of phenol, another aqueous phasesecondary organic aerosol precursor. Our data confirm previousobservations that urban deposition can impact the NOxemission factors and thus subsequent plume chemistry. Fortwo fires, we measured both the emissions in the convectivesmoke plume from our airborne platform and the unloftedresidual smoldering combustion emissions with our groundbasedplatform. The smoke from residual smoldering combustionwas characterized by emission factors for hydrocarbonand oxygenated organic species that were up to ten timeshigher than in the lofted plume, including high 1,3-butadieneand isoprene concentrations which were not observed in thelofted plume. This should be considered in modeling the air quality impacts for smoke that disperses at ground level. Wealso show that the often ignored unlofted emissions can significantlyimpact estimates of total emissions. Preliminaryevidence suggests large emissions of monoterpenes in theresidual smoldering smoke. These data should lead to animproved capacity to model the impacts of biomass burningin similar temperate ecosystems.

We have measured emission factors for 19 tracegas species and particulate matter (PM2.5) from 14 prescribedfires in chaparral and oak savanna in the southwesternUS, as well as conifer forest understory in the southeasternUS and Sierra Nevada mountains of California. These arelikely the most extensive emission factor field measurementsfor temperate biomass burning to date and the only publishedemission factors for temperate oak savanna fuels. This studyhelps to close the gap in emissions data available for temperatezone fires relative to tropical biomass burning. Wepresent the first field measurements of the biomass burningemissions of glycolaldehyde, a possible precursor for aqueousphase secondary organic aerosol formation. We alsomeasured the emissions of phenol, another aqueous phasesecondary organic aerosol precursor. Our data confirm previousobservations that urban deposition can impact the NOxemission factors and thus subsequent plume chemistry. Fortwo fires, we measured both the emissions in the convectivesmoke plume from our airborne platform and the unloftedresidual smoldering combustion emissions with our groundbasedplatform. The smoke from residual smoldering combustionwas characterized by emission factors for hydrocarbonand oxygenated organic species that were up to ten timeshigher than in the lofted plume, including high 1,3-butadieneand isoprene concentrations which were not observed in thelofted plume. This should be considered in modeling the air quality impacts for smoke that disperses at ground level. Wealso show that the often ignored unlofted emissions can significantlyimpact estimates of total emissions. Preliminaryevidence suggests large emissions of monoterpenes in theresidual smoldering smoke. These data should lead to animproved capacity to model the impacts of biomass burningin similar temperate ecosystems.

We have measured emission factors for 19 tracegas species and particulate matter (PM2.5) from 14 prescribedfires in chaparral and oak savanna in the southwesternUS, as well as conifer forest understory in the southeasternUS and Sierra Nevada mountains of California. These arelikely the most extensive emission factor field measurementsfor temperate biomass burning to date and the only publishedemission factors for temperate oak savanna fuels. This studyhelps to close the gap in emissions data available for temperatezone fires relative to tropical biomass burning. Wepresent the first field measurements of the biomass burningemissions of glycolaldehyde, a possible precursor for aqueousphase secondary organic aerosol formation. We alsomeasured the emissions of phenol, another aqueous phasesecondary organic aerosol precursor. Our data confirm previousobservations that urban deposition can impact the NOxemission factors and thus subsequent plume chemistry. Fortwo fires, we measured both the emissions in the convectivesmoke plume from our airborne platform and the unloftedresidual smoldering combustion emissions with our groundbasedplatform. The smoke from residual smoldering combustionwas characterized by emission factors for hydrocarbonand oxygenated organic species that were up to ten timeshigher than in the lofted plume, including high 1,3-butadieneand isoprene concentrations which were not observed in thelofted plume. This should be considered in modeling the air quality impacts for smoke that disperses at ground level. Wealso show that the often ignored unlofted emissions can significantlyimpact estimates of total emissions. Preliminaryevidence suggests large emissions of monoterpenes in theresidual smoldering smoke. These data should lead to animproved capacity to model the impacts of biomass burningin similar temperate ecosystems.

Vegetation commonly managed by prescribed burning was collected from five southeastern and southwestern US military bases and burned under controlled conditions at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The smoke emissions were measured with a large suite of state-of-the-art instrumentation including an open-path Fourier transform infrared (OP-FTIR) spectrometer for measurement of gas-phase species. The OP-FTIR detected and quantified 19 gas-phase species in these fires: CO2, CO, CH4, C2H2, C2H4, C3H6, HCHO, HCOOH, CH3OH, CH3COOH, furan, H2O, NO, NO2, HONO, NH3, HCN, HCl, and SO2. Emission factors for these species are presented for each vegetation type burned. Gas-phase nitrous acid (HONO), an important OH precursor, was detected in the smoke from all fires. The HONO emission factors ranged from 0.15 to 0.60 g kg(-1) and were higher for the southeastern fuels. The fire-integrated molar emission ratios of HONO (relative to NOx) ranged from approximately 0.03 to 0.20, with higher values also observed for the southeastern fuels. The majority of non-methane organic compound (NMOC) emissions detected by OP-FTIR were oxygenated volatile organic compounds (OVOCs) with the total identified OVOC emissions constituting 61 +/- 12% of the total measured NMOC on a molar basis. These OVOC may undergo photolysis or further oxidation contributing to ozone formation. Elevated amounts of gas-phase HCl and SO2 were also detected during flaming combustion, with the amounts varying greatly depending on location and vegetation type. The fuels with the highest HCl emission factors were all located in the coastal regions, although HCl was also observed from fuels farther inland. Emission factors for HCl were generally higher for the southwestern fuels, particularly those found in the chaparral biome in the coastal regions of California.

Vegetation commonly managed by prescribed burning was collected from five southeastern and southwestern US military bases and burned under controlled conditions at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The smoke emissions were measured with a large suite of state-of-the-art instrumentation including an open-path Fourier transform infrared (OP-FTIR) spectrometer for measurement of gas-phase species. The OP-FTIR detected and quantified 19 gas-phase species in these fires: CO2, CO, CH4, C2H2, C2H4, C3H6, HCHO, HCOOH, CH3OH, CH3COOH, furan, H2O, NO, NO2, HONO, NH3, HCN, HCl, and SO2. Emission factors for these species are presented for each vegetation type burned. Gas-phase nitrous acid (HONO), an important OH precursor, was detected in the smoke from all fires. The HONO emission factors ranged from 0.15 to 0.60 g kg(-1) and were higher for the southeastern fuels. The fire-integrated molar emission ratios of HONO (relative to NOx) ranged from approximately 0.03 to 0.20, with higher values also observed for the southeastern fuels. The majority of non-methane organic compound (NMOC) emissions detected by OP-FTIR were oxygenated volatile organic compounds (OVOCs) with the total identified OVOC emissions constituting 61 +/- 12% of the total measured NMOC on a molar basis. These OVOC may undergo photolysis or further oxidation contributing to ozone formation. Elevated amounts of gas-phase HCl and SO2 were also detected during flaming combustion, with the amounts varying greatly depending on location and vegetation type. The fuels with the highest HCl emission factors were all located in the coastal regions, although HCl was also observed from fuels farther inland. Emission factors for HCl were generally higher for the southwestern fuels, particularly those found in the chaparral biome in the coastal regions of California.

Vegetation commonly managed by prescribed burning was collected from five southeastern and southwestern US military bases and burned under controlled conditions at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The smoke emissions were measured with a large suite of state-of-the-art instrumentation including an open-path Fourier transform infrared (OP-FTIR) spectrometer for measurement of gas-phase species. The OP-FTIR detected and quantified 19 gas-phase species in these fires: CO2, CO, CH4, C2H2, C2H4, C3H6, HCHO, HCOOH, CH3OH, CH3COOH, furan, H2O, NO, NO2, HONO, NH3, HCN, HCl, and SO2. Emission factors for these species are presented for each vegetation type burned. Gas-phase nitrous acid (HONO), an important OH precursor, was detected in the smoke from all fires. The HONO emission factors ranged from 0.15 to 0.60 g kg(-1) and were higher for the southeastern fuels. The fire-integrated molar emission ratios of HONO (relative to NOx) ranged from approximately 0.03 to 0.20, with higher values also observed for the southeastern fuels. The majority of non-methane organic compound (NMOC) emissions detected by OP-FTIR were oxygenated volatile organic compounds (OVOCs) with the total identified OVOC emissions constituting 61 +/- 12% of the total measured NMOC on a molar basis. These OVOC may undergo photolysis or further oxidation contributing to ozone formation. Elevated amounts of gas-phase HCl and SO2 were also detected during flaming combustion, with the amounts varying greatly depending on location and vegetation type. The fuels with the highest HCl emission factors were all located in the coastal regions, although HCl was also observed from fuels farther inland. Emission factors for HCl were generally higher for the southwestern fuels, particularly those found in the chaparral biome in the coastal regions of California.

Vegetation commonly managed by prescribed burning was collected from five southeastern and southwestern US military bases and burned under controlled conditions at the US Forest Service Fire Sciences Laboratory in Missoula, Montana. The smoke emissions were measured with a large suite of state-of-the-art instrumentation including an open-path Fourier transform infrared (OP-FTIR) spectrometer for measurement of gas-phase species. The OP-FTIR detected and quantified 19 gas-phase species in these fires: CO2, CO, CH4, C2H2, C2H4, C3H6, HCHO, HCOOH, CH3OH, CH3COOH, furan, H2O, NO, NO2, HONO, NH3, HCN, HCl, and SO2. Emission factors for these species are presented for each vegetation type burned. Gas-phase nitrous acid (HONO), an important OH precursor, was detected in the smoke from all fires. The HONO emission factors ranged from 0.15 to 0.60 g kg(-1) and were higher for the southeastern fuels. The fire-integrated molar emission ratios of HONO (relative to NOx) ranged from approximately 0.03 to 0.20, with higher values also observed for the southeastern fuels. The majority of non-methane organic compound (NMOC) emissions detected by OP-FTIR were oxygenated volatile organic compounds (OVOCs) with the total identified OVOC emissions constituting 61 +/- 12% of the total measured NMOC on a molar basis. These OVOC may undergo photolysis or further oxidation contributing to ozone formation. Elevated amounts of gas-phase HCl and SO2 were also detected during flaming combustion, with the amounts varying greatly depending on location and vegetation type. The fuels with the highest HCl emission factors were all located in the coastal regions, although HCl was also observed from fuels farther inland. Emission factors for HCl were generally higher for the southwestern fuels, particularly those found in the chaparral biome in the coastal regions of California.

von D. Weise, In Fraktur

Confirmation of the long-term safety and geomechanical/hydraulic integrity of geological barriers is a requirement for the underground disposal of materials such as chemical and radioactive wastes. Long-term hydraulic tests were carried out at the Teutschenthal salt mine in Germany in which two boreholes were filled with MgCl2 brines and pressurised stepwise to 80 bars. Numerical analysis of the pressure decay curves showed that the integral rock permeabilities were significantly lower than 10(-22) m2. Although the results are site-specific, they confirm that the assumptions made relating to tight salt formations also apply to carnallite-bearing salt rocks and that the latter can be considered as a component of the geological barrier for underground repositories., Confirmation of the long-term safety and geomechanical/hydraulic integrity of geological barriers is a requirement for the underground disposal of materials such as chemical and radioactive wastes. Long-term hydraulic tests were carried out at the Teutschenthal salt mine in Germany in which two boreholes were filled with MgCl2 brines and pressurised stepwise to 80 bars. Numerical analysis of the pressure decay curves showed that the integral rock permeabilities were significantly lower than 10(-22) m2. Although the results are site-specific, they confirm that the assumptions made relating to tight salt formations also apply to carnallite-bearing salt rocks and that the latter can be considered as a component of the geological barrier for underground repositories.