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21.
Yara Abou Khalil Oriane Marmontel Jean Ferrires Franois Paillard Ccile Yelnik Valrie Carreau Sybil Charrire Eric Bruckert Antonio Gallo Philippe Giral Anne Philippi Olivier Bluteau Catherine Boileau Marianne Abifadel Mathilde Di-Filippo Alain Carri Jean-Pierre Rabs Mathilde Varret 《International journal of molecular sciences》2022,23(10)
Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or associated with elevated triglyceride levels in familial combined hyperlipidemia (FCHL). Rare APOE variants are known in ADH and FCHL. We explored the APOE molecular spectrum in a French ADH/FCHL cohort of 5743 unrelated probands. The sequencing of LDLR, PCSK9, APOB, and APOE revealed 76 carriers of a rare APOE variant, with no mutation in LDLR, PCSK9, or APOB. Among the 31 APOE variants identified here, 15 are described in ADH, 10 in FCHL, and 6 in both probands. Five were previously reported with dyslipidemia and 26 are novel, including 12 missense, 5 synonymous, 2 intronic, and 7 variants in regulatory regions. Sixteen variants were predicted as pathogenic or likely pathogenic, and their carriers had significantly lower polygenic risk scores (wPRS) than carriers of predicted benign variants. We observed no correlation between LDL-C levels and wPRS, suggesting a major effect of APOE variants. Carriers of p.Leu167del were associated with a severe phenotype. The analysis of 11 probands suggests that carriers of an APOE variant respond better to statins than carriers of a LDLR mutation. Altogether, we show that the APOE variants account for a significant contribution to ADH and FCHL. 相似文献
22.
Closing the global N2O budget: nitrous oxide emissions through the agricultural nitrogen cycle 总被引:17,自引:0,他引:17
Arvin Mosier Carolien Kroeze Cindy Nevison Oene Oenema Sybil Seitzinger Oswald van Cleemput 《Nutrient Cycling in Agroecosystems》1998,52(2-3):225-248
In 1995 a working group was assembled at the request of OECD/IPCC/IEA to revise the methodology for N2O from agriculture for the National Greenhouse Gas Inventories Methodology. The basics of the methodology developed to calculate annual country level nitrous oxide (N2O) emissions from agricultural soils is presented herein. Three sources of N2O are distinguished in the new methodology: (i) direct emissions from agricultural soils, (ii) emissions from animal production, and (iii) N2O emissions indirectly induced by agricultural activities. The methodology is a simple approach which requires only input data that are available from FAO databases. The methodology attempts to relate N2O emissions to the agricultural nitrogen (N) cycle and to systems into which N is transported once it leaves agricultural systems. These estimates are made with the realization that increased utilization of crop nutrients, including N, will be required to meet rapidly growing needs for food and fiber production in our immediate future. Anthropogenic N input into agricultural systems include N from synthetic fertilizer, animal wastes, increased biological N-fixation, cultivation of mineral and organic soils through enhanced organic matter mineralization, and mineralization of crop residue returned to the field. Nitrous oxide may be emitted directly to the atmosphere in agricultural fields, animal confinements or pastoral systems or be transported from agricultural systems into ground and surface waters through surface runoff. Nitrate leaching and runoff and food consumption by humans and introduction into sewage systems transport the N ultimately into surface water (rivers and oceans) where additional N2O is produced. Ammonia and oxides of N (NOx) are also emitted from agricultural systems and may be transported off-site and serve to fertilize other systems which leads to enhanced production of N2O. Eventually, all N that moves through the soil system will be either terminally sequestered in buried sediments or denitrified in aquatic systems. We estimated global N2O–N emissions for the year 1989, using midpoint emission factors from our methodology and the FAO data for 1989. Direct emissions from agricultural soils totaled 2.1 Tg N, direct emissions from animal production totaled 2.1 Tg N and indirect emissions resulting from agricultural N input into the atmosphere and aquatic systems totaled 2.1 Tg N2O–N for an annual total of 6.3 Tg N2O–N. The N2O input to the atmosphere from agricultural production as a whole has apparently been previously underestimated. These new estimates suggest that the missing N2O sources discussed in earlier IPCC reports is likely a biogenic (agricultural) one. 相似文献
23.
Asif Kaiser Zhang Lu Derrible Sybil Indacochea J. Ernesto Ozevin Didem Ziebart Brian 《Journal of Intelligent Manufacturing》2022,33(3):881-895
Journal of Intelligent Manufacturing - Weld evaluation processes are usually conducted in the post-weld stage. In this way, defects are found after the weld is completed, often resulting in... 相似文献
24.
Sybil Sharvelle Eric McLamore M. Katherine Banks 《Canadian Metallurgical Quarterly》2008,134(5):346-352
Hydrodynamics in biotrickling filters can be strongly influenced by packing material geometry and hydraulic loading rate. While it is generally accepted that increasing wetted area in a biotrickling filter can improve process performance, additional research on synthetic packing materials and parameters that improve hydrodynamics, resulting in increased wetted area, is desirable. For this research, a series of tracer tests was conducted to compare hydrodynamics in bench scale biotrickling filters with three different packing materials under three different flow rates. Results suggest that of the three packing materials, the material with the highest specific surface area resulted in channeling and excessive formation of stagnant zones within the biotrickling filters. Liquid distribution through the biotrickling filters substantially improved at a hydraulic loading rate of 1.9?m/hr for all packing materials, but based on these experiments, improvements were minimal when the hydraulic loading rate was increased further. The presence of a biofilm increased mean residence time in biotrickling filters and the factor by which the increase was observed decreased with increasing hydraulic loading rate. 相似文献
25.
Compared the factor structure of the Sensation-Seeking Scale (SSS) in English and American samples, and constructed a new form of the SSS, applicable to both groups. The English Ss consisted of 254 males and 639 females from the Maudsley Twin Register, ages 15–70 yrs. The American sample included 97 male and female undergraduates. Three of the 4 factors showed good cross-national and cross-sex reliability (i.e., significant and reasonably high resemblance between the 4 national and sex symbols). English and American males did not differ on the total SSS score, but American females scored higher than English females. Males in both countries scored higher than females on the total SSS score and on the Thrill and Adventure-Seeking and Disinhibition subscales. Significant age declines occurred for both sexes, particularly on Thrill and Adventure Seeking and Disinhibition. (24 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
26.
Of 1,020 persons graduated from a city college program in 1960–1975, 316 returned completed questionnaires. The data suggest that the status of men and women was similar, with women more satisfied than men with their specialty. Though a higher percentage of men were employed in university settings, more women were engaged in school psychology. Ss were found to be a versatile, professionally active, and highly satisfied group. 31% of the men and 14% of the women had obtained a doctoral degree. (6 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献