| 1. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 2. |
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| 3. |
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| 4. |
- Lambert, A., et al.
(författare)
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Validation of the Aura Microwave Limb Sounder middle atmosphere water vapor and nitrous oxide measurements
- 2007
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 112:D24
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Tidskriftsartikel (refereegranskat)abstract
- The quality of the version 2.2 (v2.2) middle atmosphere water vapor and nitrous oxide measurements from the Microwave Limb Sounder (MLS) on the Earth Observing System (EOS) Aura satellite is assessed. The impacts of the various sources of systematic error are estimated by a comprehensive set of retrieval simulations. Comparisons with correlative data sets from ground-based, balloon and satellite platforms operating in the UV/ visible, infrared and microwave regions of the spectrum are performed. Precision estimates are also validated, and recommendations are given on the data usage. The v2.2 H 2 O data have been improved over v1.5 by providing higher vertical resolution in the lower stratosphere and better precision above the stratopause. The single-profile precision is ∼0.2-0.3 ppmv (4-9%), and the vertical resolution is ∼3-4 km in the stratosphere. The precision and vertical resolution become worse with increasing height above the stratopause. Over the pressure range 0.1-0.01 hPa the precision degrades from 0.4 to 1.1 ppmv (6-34%), and the vertical resolution degrades to ∼12-16 km. The accuracy is estimated to be 0.2-0.5 ppmv (4-11%) for the pressure range 68-0.01 hPa. The scientifically useful range of the H 2 O data is from 316 to 0.002 hPa, although only the 82-0.002 hPa pressure range is validated here. Substantial improvement has been achieved in the v2.2 N 2 O data over v1.5 by reducing a significant low bias in the stratosphere and eliminating unrealistically high biased mixing ratios in the polar regions. The single-profile precision is ∼13-25 ppbv (7-38%), the vertical resolution is ∼4-6 km and the accuracy is estimated to be 3-70 ppbv (9-25%) for the pressure range 100-4.6 hPa. The scientifically useful range of the N 2 O data is from 100 to 1 hPa. Copyright 2007 by the American Geophysical Union.
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| 5. |
- Santee, M.L., et al.
(författare)
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Validation of the Aura Microwave Limb Sounder HNO3 Measurements
- 2007
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 112:D24
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Tidskriftsartikel (refereegranskat)abstract
- [1] We assess the quality of the version 2.2 (v2.2) HNO(3) measurements from the Microwave Limb Sounder (MLS) on the Earth Observing System Aura satellite. The MLS HNO(3) product has been greatly improved over that in the previous version (v1.5), with smoother profiles, much more realistic behavior at the lowest retrieval levels, and correction of a high bias caused by an error in one of the spectroscopy files used in v1.5 processing. The v2.2 HNO(3) data are scientifically useful over the range 215 to 3.2 hPa, with single-profile precision of similar to 0.7 ppbv throughout. Vertical resolution is 3-4 km in the upper troposphere and lower stratosphere, degrading to similar to 5 km in the middle and upper stratosphere. The impact of various sources of systematic uncertainty has been quantified through a comprehensive set of retrieval simulations. In aggregate, systematic uncertainties are estimated to induce in the v2.2 HNO(3) measurements biases that vary with altitude between +/- 0.5 and +/- 2 ppbv and multiplicative errors of +/- 5-15% throughout the stratosphere, rising to similar to +/- 30% at 215 hPa. Consistent with this uncertainty analysis, comparisons with correlative data sets show that relative to HNO(3) measurements from ground- based, balloon- borne, and satellite instruments operating in both the infrared and microwave regions of the spectrum, MLS v2.2 HNO(3) mixing ratios are uniformly low by 10-30% throughout most of the stratosphere. Comparisons with in situ measurements made from the DC-8 and WB-57 aircraft in the upper troposphere and lowermost stratosphere indicate that the MLS HNO(3) values are low in this region as well, but are useful for scientific studies (with appropriate averaging).
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| 6. |
- Santee, M.L., et al.
(författare)
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Validation of the Aura Microwave Limb Sounder ClO Measurements
- 2008
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 113:D15
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Tidskriftsartikel (refereegranskat)abstract
- We assess the quality of the version 2.2 (v2.2) ClO measurements from the Microwave Limb Sounder (MLS) on the Earth Observing System Aura satellite. The MLS v2.2 ClO data are scientifically useful over the range 100 to 1 hPa, with a single- profile precision of similar to 0.1 ppbv throughout most of the vertical domain. Vertical resolution is similar to 3-4 km. Comparisons with climatology and correlative measurements from a variety of different platforms indicate that both the amplitude and the altitude of the peak in the ClO profile in the upper stratosphere are well determined by MLS. The latitudinal and seasonal variations in the ClO distribution in the lower stratosphere are also well determined, but a substantial negative bias is present in both daytime and nighttime mixing ratios at retrieval levels below (i. e., pressures larger than) 22 hPa. Outside of the winter polar vortices, this negative bias can be eliminated by subtracting gridded or zonal mean nighttime values from the individual daytime measurements. In studies for which knowledge of lower stratospheric ClO mixing ratios inside the winter polar vortices to better than a few tenths of a ppbv is needed, however, day - night differences are not recommended and the negative bias must be corrected for by subtracting the estimated value of the bias from the individual measurements at each affected retrieval level.
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| 7. |
- Augustin, L S A, et al.
(författare)
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Glycemic index, glycemic load and glycemic response: An International Scientific Consensus Summit from the International Carbohydrate Quality Consortium (ICQC).
- 2015
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Ingår i: Nutrition Metabolism and Cardiovascular Diseases. - : Elsevier BV. - 1590-3729 .- 0939-4753. ; 25:9, s. 795-815
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Tidskriftsartikel (refereegranskat)abstract
- Background and aims: The positive and negative health effects of dietary carbohydrates are of interest to both researchers and consumers. Methods: International experts on carbohydrate research held a scientific summit in Stresa, Italy, in June 2013 to discuss controversies surrounding the utility of the glycemic index (GI), glycemic load (GL) and glycemic response (GR). Results: The outcome was a scientific consensus statement which recognized the importance of postprandial glycemia in overall health, and the GI as a valid and reproducible method of classifying carbohydrate foods for this purpose. There was consensus that diets low in GI and GL were relevant to the prevention and management of diabetes and coronary heart disease, and probably obesity. Moderate to weak associations were observed for selected cancers. The group affirmed that diets low in GI and GL should always be considered in the context of diets otherwise understood as healthy, complementing additional ways of characterizing carbohydrate foods, such as fiber and whole grain content. Diets of low GI and GL were considered particularly important in individuals with insulin resistance. Conclusions: Given the high prevalence of diabetes and pre-diabetes worldwide and the consistency of the scientific evidence reviewed, the expert panel confirmed an urgent need to communicate information on GI and GL to the general public and health professionals, through channels such as national dietary guidelines, food composition tables and food labels.
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| 8. |
- Chauhan, Swarup, et al.
(författare)
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MIPAS reduced spectral resolution UTLS-1 mode measurements of temperature, O3, HNO3, N2O, H2O and relative humidity over ice: retrievals and comparison to MLS
- 2009
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; :2, s. 337-353
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Tidskriftsartikel (refereegranskat)abstract
- During several periods since 2005 the Michelson Interferometer for Passive Atmospheric Sounding (MIPAS) on Envisat has performed observations dedicated to the region of the upper troposphere/lower stratosphere (UTLS). For the duration of November/December 2005 global distributions of temperature and several trace gases from MIPAS UTLS-1 mode measurements have been retrieved using the IMK/IAA (Institut für Meteorologie und Klimaforschung/Instituto de Astrofísica de Andalucía) scientific processor. In the UTLS region a vertical resolution of 3 km for temperaure, 3 to 4 km for H2O, 2.5 to 3 km for O3, 3.5 km for HNO3 and 3.5 to 2.5 km for N2O has been achieved. The retrieved temperature, H2O, O3, HNO3, N2O, and relative humidity over ice are intercompared with the Microwave Limb Sounder (MLS/Aura) v2.2 data in the pressure range 316 to 0.68 hPa, 316 to 0.68 hPa, 215 to 0.68 hPa, 215 to 3.16 hPa, 100 to 1 hPa and 316 to 10 hPa, respectively. In general, MIPAS and MLS temperatures are biased within ±4 K over the whole pressure and latitude range. Systematic, latitude-independent differences of −2 to −4 K (MIPAS-MLS) at 121 hPa are explained by previously observed biases in the MLS v2.2 temperature retrievals. Temperature differences of −4 K up to 12 K above 10.0 hPa are present both in MIPAS and MLS with respect to ECMWF (European Centre for Medium-Range Weather Forecasts) and are likely due to deficiencies of the ECMWF analysis data. MIPAS and MLS stratospheric volume mixing ratios (vmr) of H2O are biased within ±1 ppmv, with indication of oscillations between 146 and 26 hPa in the MLS dataset. Tropical upper tropospheric values of relative humidity over ice measured by the two instruments differ by ±20% in the pressure range ~146 to 68 hPa. These differences are mainly caused by the MLS temperature biases. Ozone mixing ratios agree within 0.5 ppmv (10 to 20%) between 68 and 14 hPa. At pressures smaller than 10 hPa, MIPAS O3 vmr are higher than MLS by an average of 0.5 ppmv (10%). General agreement between MIPAS and MLS HNO3 is within the range of −1.0 (−10%) to 1.0 ppbv (20%). MIPAS HNO3 is 1.0 ppbv (10%) higher compared to MLS between 46 hPa and 10 hPa over the Northern Hemisphere. Over the tropics at 31.6 hPa MLS shows a low bias of more than 1 ppbv (>50%). In general, MIPAS and MLS N2O vmr agree within 20 to 40 ppbv (20 to 40%). Differences in the range between 100 to 21 hPa are attributed to a known 20% positive bias in MIPAS N2O data.
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| 9. |
- Livesey, Michael G., et al.
(författare)
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Acromion morphology is associated with glenoid bone loss in posterior glenohumeral instability
- 2023
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Ingår i: JOURNAL OF SHOULDER AND ELBOW SURGERY. - : Elsevier BV. - 1058-2746 .- 1532-6500. ; 32:9, s. 1850-1856
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Tidskriftsartikel (refereegranskat)abstract
- Background: The acromion morphology in a shoulder with posterior instability differs from that of a shoulder without glenohumeral instability. Specifically, the acromion with a flatter sagittal tilt, greater posterior acromial height, and less posterior coverage is associated with posterior instability. However, the association between acromion morphology and glenoid bone loss (GBL) in the setting of posterior glenohumeral instability has not previously been investigated. The purpose of this study was to determine whether acromial morphology influences the extent or pattern of posterior GBL in a cohort of patients with posterior glenohumeral instability. Methods: This multicenter retrospective study identified 89 shoulders with unidirectional posterior glenohumeral instability. Total area GBL was measured using the best-fit circle method on magnetic resonance imaging (MRI). Shoulders were divided into 3 groups: (1) no GBL (n = 30), (2) GBL 0%-13.5% (n = 45), or (3) GBL > 13.5% (n = 14). Acromion measurements were performed on MRI and included acromial tilt, posterior acromial height, anterior acromial coverage, and posterior acromial coverage. Results: Patients without GBL had a steeper acromial tilt (58.5 degrees +/- 1.4 degrees) compared with those with 0%-13.5% GBL (64.3 degrees +/- 1.5 degrees) or GBL >= 13.5% (67.7 degrees +/- 1.8 degrees) (P =.004). Patients without GBL also had greater posterior coverage (65.4 degrees +/- 1.7 degrees) compared with those with GBL (60.3 degrees +/- 1.4 degrees) (P =.015). Posterior acromion height was not significantly different among groups. Conclusion: The results demonstrate that an acromion with a flatter sagittal tilt and less posterior coverage is associated with GBL in the setting of posterior glenohumeral instability. This is important to consider as posterior GBL has been identified as a risk factor for failure of posterior soft tissue-stabilizing procedures. Level of evidence: Anatomy Study; Imaging (c) 2023 Published by Elsevier Inc. on behalf of Journal of Shoulder and Elbow Surgery Board of Trustees.
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| 10. |
- Ademuyiwa, Adesoji O., et al.
(författare)
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Determinants of morbidity and mortality following emergency abdominal surgery in children in low-income and middle-income countries
- 2016
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Ingår i: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 1:4
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Tidskriftsartikel (refereegranskat)abstract
- Background: Child health is a key priority on the global health agenda, yet the provision of essential and emergency surgery in children is patchy in resource-poor regions. This study was aimed to determine the mortality risk for emergency abdominal paediatric surgery in low-income countries globally.Methods: Multicentre, international, prospective, cohort study. Self-selected surgical units performing emergency abdominal surgery submitted prespecified data for consecutive children aged <16 years during a 2-week period between July and December 2014. The United Nation's Human Development Index (HDI) was used to stratify countries. The main outcome measure was 30-day postoperative mortality, analysed by multilevel logistic regression.Results: This study included 1409 patients from 253 centres in 43 countries; 282 children were under 2 years of age. Among them, 265 (18.8%) were from low-HDI, 450 (31.9%) from middle-HDI and 694 (49.3%) from high-HDI countries. The most common operations performed were appendectomy, small bowel resection, pyloromyotomy and correction of intussusception. After adjustment for patient and hospital risk factors, child mortality at 30 days was significantly higher in low-HDI (adjusted OR 7.14 (95% CI 2.52 to 20.23), p<0.001) and middle-HDI (4.42 (1.44 to 13.56), p=0.009) countries compared with high-HDI countries, translating to 40 excess deaths per 1000 procedures performed.Conclusions: Adjusted mortality in children following emergency abdominal surgery may be as high as 7 times greater in low-HDI and middle-HDI countries compared with high-HDI countries. Effective provision of emergency essential surgery should be a key priority for global child health agendas.
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| 11. |
- Barret, B., et al.
(författare)
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Intercomparisons of trace gases profiles from the Odin/SMR and Aura/MLS limb sounders
- 2006
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 111:D21
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents the intercomparison of O(3), HNO(3), ClO, N(2)O and CO profiles measured by the two spaceborne microwave instruments MLS ( Microwave Limb Sounder) and SMR ( Submillimetre Radiometer) on board the Aura and Odin satellites, respectively. We compared version 1.5 level 2 data from MLS with level 2 data produced by the French data processor version 222 and 225 and by the Swedish data processor version 2.0 for several days in September 2004 and in March 2005. For the five gases studied, an overall good agreement is found between both instruments. Most of the observed discrepancies between SMR and MLS are consistent with results from other intercomparison studies involving MLS or SMR. O(3) profiles retrieved from the SMR 501.8 GHz band are noisier than MLS profiles but mean biases between both instruments do not exceed 10%. SMR HNO(3) profiles are biased low relative to MLS's by similar to 30% above the profile peak. In the lower stratosphere, MLS ClO profiles are biased low by up to 0.3 ppbv relative to coincident SMR profiles, except in the Southern Hemisphere polar vortex in the presence of chlorine activation. N(2)O profiles from both instruments are in very good agreement with mean biases not exceeding 15%. Finally, the intercomparison between SMR and MLS CO profiles has shown a good agreement from the middle stratosphere to the middle mesosphere in spite of strong oscillations in the MLS profiles. In the upper mesosphere, MLS CO concentrations are biased high relative to SMR while negative values in the MLS retrievals are responsible for a negative bias in the tropics around 30 hPa.
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| 12. |
- Clerbaux, C., et al.
(författare)
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CO measurements from the ACE-FTS satellite instrument: data analysis and validation using ground-based, airborne and spaceborne observations
- 2008
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8, s. 2569-2594
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Tidskriftsartikel (refereegranskat)abstract
- The Atmospheric Chemistry Experiment (ACE) mission was launched in August 2003 to sound the atmosphere by solar occultation. Carbon monoxide (CO), a good tracer of pollution plumes and atmospheric dynamics, is one of the key species provided by the primary instrument, the ACE-Fourier Transform Spectrometer (ACE-FTS). This instrument performs measurements in both the CO 1-0 and 2-0 ro-vibrational bands, from which vertically resolved CO concentration profiles are retrieved, from the mid-troposphere to the thermosphere. This paper presents an updated description of the ACE-FTS version 2.2 CO data product, along with a comprehensive validation of these profiles using available observations (February 2004 to December 2006). We have compared the CO partial columns with ground-based measurements using Fourier transform infrared spectroscopy and millimeter wave radiometry, and the volume mixing ratio profiles with airborne (both high-altitude balloon flight and airplane) observations. CO satellite observations provided by nadir-looking instruments (MOPITT and TES) as well as limb-viewing remote sensors (MIPAS, SMR and MLS) were also compared with the ACE-FTS CO products. We show that the ACE-FTS measurements provide CO profiles with small retrieval errors (better than 5% from the upper troposphere to 40 km, and better than 10% above). These observations agree well with the correlative measurements, considering the rather loose coincidence criteria in some cases. Based on the validation exercise we assess the following uncertainties to the ACE-FTS measurement data: better than 15% in the upper troposphere (8–12 km), than 30% in the lower stratosphere (12–30 km), and than 25% from 30 to 100 km.
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| 13. |
- Edman, S., et al.
(författare)
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TCN 201 selectively blocks GluN2A-containing NMDARs in a GluN1 co-agonist dependent but non-competitive manner
- 2012
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Ingår i: Neuropharmacology. - : Elsevier BV. - 0028-3908. ; 63:3, s. 441-449
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Tidskriftsartikel (refereegranskat)abstract
- Antagonists that are sufficiently selective to preferentially block GluN2A-containing N-methyl-D-aspartate receptors (NMDARs) over GluN2B-containing NMDARs are few in number. In this study we describe a pharmacological characterization of 3-chloro-4-fluoro-N-[4-[[2-(phenylcarbonyl)hydrazino]carbonyl] benzyl]benzenesulphonamide (TCN 201), a sulphonamide derivative, that was recently identified from a high-throughput screen as a potential GluN2A-selective antagonist. Using two-electrode voltage-clamp (TEVC) recordings of NMDAR currents from Xenopus laevis oocytes expressing either GluN1/GluN2A or GluN1/GluN2B NMDARs we demonstrate the selective antagonism by TCN 201 of GluN2A-containing NMDARs. The degree of inhibition produced by TCN 201 is dependent on the concentration of the GluN1-site co-agonist, glycine (or D-serine), and is independent of the glutamate concentration. This GluN1 agonist-dependency is similar to that observed for a related GluN2A-selective antagonist, N-(cyclohexylmethyl)-2[{5-[(phenylmethyl)amino]-1,3,4-thiadiazol-2-yl}thio]acetamide (TCN 213). Schild analysis of TCN 201 antagonism indicates that it acts in a non-competitive manner but its equilibrium constant at GluN1/GluN2A NMDARs indicates TCN 201 is around 30-times more potent than TCN 213. In cortical neurones TCN 201 shows only modest antagonism of NMDAR-mediated currents recorded from young (DIV 9-10) neurones where GluN2B expression predominates. In older cultures (DIV 15-18) or in cultures where GluN2A subunits have been over-expressed TCN 201 gives a strong block that is negatively correlated with the degree of block produced by the GluN2B-selective antagonist, ifenprodil. Nevertheless, while TCN 201 is a potent antagonist it must be borne in mind that its ability to block GluN2A-containing NMDARs is dependent on the GluN1-agonist concentration and is limited by its low solubility. (C) 2012 Elsevier Ltd. All rights reserved.
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| 14. |
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| 15. |
- Livesey, G, et al.
(författare)
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Determination of digestible energy values and fermentabilities of dietary fibre supplements : a European interlaboratory study in vivo
- 1995
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Ingår i: British Journal of Nutrition. - 0007-1145. ; 74:3, s. 289-302
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Tidskriftsartikel (refereegranskat)abstract
- The performance of methods to determine energy conversion factors for dietary fibre (DF) supplements and fermentability (D) values of their non-starch polysaccharides (NSP) was investigated. Heats of combustion, digestible energy (DE) and D values were determined on five DF supplements in five European laboratories on five separate occasions. In each instance the DF supplements were fed to juvenile male Wistar rats at two doses, 50 and 100 g/kg basal diet, for 3 weeks with food and faeces collected in the 3rd week. Among-laboratory variations in heats of combustion (delta Hc) were < 2%. DE values (kJ/g dry weight) at the upper and lower doses respectively were: 10.4 and 9.9 for a high-methoxyl apple pectin, 9.5 and 9.4 for a sugar-beet DF supplement, 12.2 and 12.7 for soyabean DF supplement, 3.8 and 4.0 for maize bran, and 0.3 and 0.3 for Solka-floc cellulose. Variations among laboratories, among occasions and among animals were < 1, < 2 and < 2.5 kJ/g respectively. The among-occasion: among-laboratory variance ratio for DE was 0.5, suggesting the method performed equally well in all laboratories. There was no evidence of learning of fatigue or fatigue in the performance of the method. D values were also independent of dose and at the high and lower doses were: pectin 0.92 and 0.95, sugar-beet NSP 0.68 and 0.68, soyabean NSP 0.86 and 0.88, maize bran 0.17 and 0.18, cellulose 0.07 and 0.06. Among-laboratory variance tended to increase with decreasing fermentability and ranged from 0.03 to 0.18. The DE and D data were not significantly different from a previously proposed relationship DE = 0.7 x delta Hc x D, where delta Hc is the heat of combustion of the supplement. We conclude that while the among-laboratory variation in the D of difficult-to-ferment NSP is too large for the reliable prediction of energy value the method for the direction determination of DE is both reproducible and repeatable, that DE is independent of dosage of DF supplement up to 100 g/kg diet, and that it is safe to discriminate between energy values with a precision of 3 kJ/g. The conversion of both DE and D to net metabolizable energy for the purpose of food labelling, tables and databases is described.
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| 16. |
- Sagawa, H., et al.
(författare)
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Comparison of SMILES ClO profiles with satellite, balloon-borne and ground-based measurements
- 2013
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 6:12, s. 3325-3347
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Tidskriftsartikel (refereegranskat)abstract
- We evaluate the quality of ClO profiles derived from the Superconducting Submillimeter-Wave Limb-Emission Sounder (SMILES) on the International Space Station (ISS). Version 2.1.5 of the level-2 product generated by the National Institute of Information and Communications Technology (NICT) is the subject of this study. Based on sensitivity studies, the systematic error was estimated as 5–10 pptv at the pressure range of 80–20 hPa, 35 pptv at the ClO peak altitude (~ 4 hPa), and 5–10 pptv at pressures ≤ 0.5 hPa for daytime mid-latitude conditions. For nighttime measurements, a systematic error of 8 pptv was estimated for the ClO peak altitude (~ 2 hPa). The SMILES NICT v2.1.5 ClO profiles agree with those derived from another level-2 processor developed by the Japan Aerospace Exploration Agency (JAXA) within the bias uncertainties, except for the nighttime measurements in the low and middle latitude regions where the SMILES NICT v2.1.5 profiles have a negative bias of ~ 30 pptv in the lower stratosphere. This bias is considered to be due to the use of a limited spectral bandwidth in the retrieval process of SMILES NICT v2.1.5, which makes it difficult to distinguish between the weak ClO signal and wing contributions of spectral features outside the bandwidth. In the middle and upper stratosphere outside the polar regions, no significant systematic bias was found for the SMILES NICT ClO profile with respect to data sets from other instruments such as the Aura Microwave Limb Sounder (MLS), the Odin Sub-Millimetre Radiometer (SMR), the Envisat Michelson Interferometer for Passive Atmospheric Sounding (MIPAS), and the ground-based radiometer at Mauna Kea, which demonstrates the scientific usability of the SMILES ClO data including the diurnal variations. Inside the chlorine-activated polar vortex, the SMILES NICT v2.1.5 ClO profiles show larger volume mixing ratios by 0.4 ppbv (30%) at 50 hPa compared to those of the JAXA processed profiles. This discrepancy is also considered to be an effect of the limited spectral bandwidth in the retrieval processing. We also compared the SMILES NICT ClO profiles of chlorine-activated polar vortex conditions with those measured by the balloon-borne instruments: Terahertz and submillimeter Limb Sounder (TELIS) and the MIPAS-balloon instrument (MIPAS-B). In conclusion, the SMILES NICT v2.1.5 ClO data can be used at pressures ≤ ~30 hPa for scientific analysis.
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| 17. |
- Zhang, Sai, et al.
(författare)
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
- 2022
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Ingår i: Neuron. - : Elsevier BV. - 0896-6273. ; 110:6, s. 11-1008
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association studies (GWASs) have discovered relatively few loci. We developed a machine learning approach called RefMap, which integrates functional genomics with GWAS summary statistics for gene discovery. With transcriptomic and epigenetic profiling of motor neurons derived from induced pluripotent stem cells (iPSCs), RefMap identified 690 ALS-associated genes that represent a 5-fold increase in recovered heritability. Extensive conservation, transcriptome, network, and rare variant analyses demonstrated the functional significance of candidate genes in healthy and diseased motor neurons and brain tissues. Genetic convergence between common and rare variation highlighted KANK1 as a new ALS gene. Reproducing KANK1 patient mutations in human neurons led to neurotoxicity and demonstrated that TDP-43 mislocalization, a hallmark pathology of ALS, is downstream of axonal dysfunction. RefMap can be readily applied to other complex diseases.
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