The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called "Ehlers-Danlos syndrome, spondylodysplastic form type 3" (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and-in contrast to most types of Ehlers-Danlos syndrome-significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis

Validation of methane and carbon monoxide from Sentinel-5 Precursor using TCCON and NDACC-IRWG stations

The Sentinel-5 Precursor (S5P) mission with the TROPOspheric Monitoring Instrument (TROPOMI) on board has been measuring solar radiation backscattered by the Earth\u27s atmosphere and surface since its launch on 13 October 2017. In this paper, we present for the first time the S5P operational methane (CH4) and carbon monoxide (CO) products\u27 validation results covering a period of about 3 years using global Total Carbon Column Observing Network (TCCON) and Infrared Working Group of the Network for the Detection of Atmospheric Composition Change (NDACC-IRWG) network data, accounting for a priori alignment and smoothing uncertainties in the validation, and testing the sensitivity of validation results towards the application of advanced co-location criteria. We found that the S5P standard and bias-corrected CH4 data over land surface for the recommended quality filtering fulfil the mission requirements. The systematic difference of the bias-corrected total column-averaged dry air mole fraction of methane (XCH4) data with respect to TCCON data is -0.26 +/- 0.56 % in comparison to -0.68 +/- 0.74 % for the standard XCH4 data, with a correlation of 0.6 for most stations. The bias shows a seasonal dependence. We found that the S5P CO data over all surfaces for the recommended quality filtering generally fulfil the missions requirements, with a few exceptions, which are mostly due to co-location mismatches and limited availability of data. The systematic difference between the S5P total column-averaged dry air mole fraction of carbon monoxide (XCO) and the TCCON data is on average 9.22 +/- 3.45 % (standard TCCON XCO) and 2.45 +/- 3.38 % (unscaled TCCON XCO). We found that the systematic difference between the S5P CO column and NDACC CO column (excluding two outlier stations) is on average 6.5 +/- 3.54 %. We found a correlation of above 0.9 for most TCCON and NDACC stations. The study shows the high quality of S5P CH4 and CO data by validating the products against reference global TCCON and NDACC stations covering a wide range of latitudinal bands, atmospheric conditions and surface conditions

Validation of methane and carbon monoxide from Sentinel-5 Precursor using TCCON and NDACC-IRWG stations

The Sentinel-5 Precursor (S5P) mission with the TROPOspheric Monitoring Instrument (TROPOMI) on board has been measuring solar radiation backscattered by the Earth\u27s atmosphere and surface since its launch on 13 October 2017. In this paper, we present for the first time the S5P operational methane (CH4) and carbon monoxide (CO) products\u27 validation results covering a period of about 3 years using global Total Carbon Column Observing Network (TCCON) and Infrared Working Group of the Network for the Detection of Atmospheric Composition Change (NDACC-IRWG) network data, accounting for a priori alignment and smoothing uncertainties in the validation, and testing the sensitivity of validation results towards the application of advanced co-location criteria. We found that the S5P standard and bias-corrected CH4 data over land surface for the recommended quality filtering fulfil the mission requirements. The systematic difference of the bias-corrected total column-averaged dry air mole fraction of methane (XCH4) data with respect to TCCON data is −0.26±0.56 % in comparison to −0.68±0.74 % for the standard XCH4 data, with a correlation of 0.6 for most stations. The bias shows a seasonal dependence. We found that the S5P CO data over all surfaces for the recommended quality filtering generally fulfil the missions requirements, with a few exceptions, which are mostly due to co-location mismatches and limited availability of data. The systematic difference between the S5P total column-averaged dry air mole fraction of carbon monoxide (XCO) and the TCCON data is on average 9.22±3.45 % (standard TCCON XCO) and 2.45±3.38 % (unscaled TCCON XCO). We found that the systematic difference between the S5P CO column and NDACC CO column (excluding two outlier stations) is on average 6.5±3.54 %. We found a correlation of above 0.9 for most TCCON and NDACC stations. The study shows the high quality of S5P CH4 and CO data by validating the products against reference global TCCON and NDACC stations covering a wide range of latitudinal bands, atmospheric conditions and surface conditions

Retrieval and validation of MetOp/IASI methane

A new IASI methane product developed at the Royal Belgian Institute for Space Aeronomy (BIRA-IASB) is presented. The retrievals are performed with the ASIMUT-ALVL software based on the optimal estimation method (OEM). This paper gives an overview of the forward model and retrieval concept. The usefulness of reconstructed principal component compressed (PCC) radiances is highlighted. The information content study carried out in this paper shows that most IASI pixels contain between 0.9 and 1.6 independent pieces of information about the vertical distribution of CH4, with a good sensitivity in the mid- to upper troposphere. A detailed error analysis was performed. The total uncertainty is estimated to be 3.73 % for a CH4 partial column between 4 and 17 km. An extended validation with ground-based CH4 observations at 10 locations was carried out. IASI CH4 partial columns are found to correlate well with the ground-based data for 6 out of the 10 Fourier transform infrared (FTIR) stations with correlation coefficients between 0.60 and 0.84. Relative mean differences between IASI and FTIR CH4 range between −2.31 and 4.04 % and are within the systematic uncertainty. For 6 out of the 10 stations the relative mean differences are smaller than ±1 %. The standard deviation of the difference lies between 1.76 and 2.97 % for all the stations

The First Results From the New TCCON Station at Réunion Island

International audienceIn September of 2011, measurements for the Total Carbon Column Observing Network (TCCON) began at Réunion Island (Ile de La Réunion, 55°E, 20°S). The island is located East of Madagascar in the Indian Ocean, it undergoes strong influences from biomass burning in Africa and Madagascar during the months September to December. Since 2002, we have been performing remote-sensing measurements for the Network for the Detection of Atmospheric Composition Change (NDACC) using a high-resolution Fourier-transform infrared spectrometer at the island, and now it is also home to the fourth operational TCCON observatory in the Southern Hemisphere. The TCCON observatory is located on the campus of the Université de La Réunion in St. Denis, next to the ocean. The station is operated remotely from the Belgian Institute for Space Aeronomy in Brussels, with technical support from the Laboratoire de l'Atmosphère et des cyclones at La Réunion. The observatory houses a high-resolution Bruker 125/HR Fourier-transform infrared spectrometer (operating in the near-infrared for the TCCON), and a home-built solar tracker. The same infrastructure is also used for measurements for the NDACC (operating in the mid-infrared). Our remote sensing measurements are supplemented by in-situ measurements with a PICARRO system at the same site. In this presentation, we show the first results of the TCCON measurements of the total columns of CO2 and CH4 from Réunion Island

Validation of IASI FORLI carbon monoxide retrievals using FTIR data from NDACC

Carbon monoxide (CO) is retrieved daily and globally from space-borne IASI radiance spectra using the Fast Optimal Retrievals on Layers for IASI (FORLI) software developed at the Université Libre de Bruxelles (ULB). The IASI CO total column product for 2008 from the most recent FORLI retrieval version (20100815) is evaluated using correlative CO profile products retrieved from groundbased solar absorption Fourier transform infrared (FTIR) observations at the following FTIR spectrometer sites from the Network for the Detection of Atmospheric Composition Change (NDACC): Ny-Alesund, Kiruna, Bremen, Jungfraujoch, Izana and Wollongong. In order to have good statistics for the comparisons, we included all IASI data from the same day, within a 100 km radius around the ground-based stations. The individual ground-based data were adjusted to the lowest altitude of the co-located IASI CO profiles. To account for the different vertical resolutions and sensitivities of the ground-based and satellite measurements, the averaging kernels associated with the various retrieved products have been used to properly smooth coincident data products. It has been found that the IASI CO total column products compare well on average with the co-located ground-based FTIR total columns at the selected NDACC sites and that there is no significant bias for the mean values at all stations

TCCON data from Réunion Island (RE), Release GGG2014.R0

These data are now obsolete and should be replaced by the most recent data: https://doi.org/10.14291/tccon.ggg2014.reunion01.R1 The Total Carbon Column Observing Network (TCCON) is a network of ground-based Fourier Transform Spectrometers that record direct solar absorption spectra of the atmosphere in the near-infrared. From these spectra, accurate and precise column-averaged abundances of atmospheric constituents including CO2, CH4, N2O, HF, CO, H2O, and HDO, are retrieved. This data set contains observations from the TCCON station on Réunion Island.Contact person: Martine De Maziere [email protected]