Academic literature on the topic 'Gene burden analysis'
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Journal articles on the topic "Gene burden analysis"
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Sadler, Brooke, Charles G. Minard, Gabe Haller, Christina A. Gurnett, Sarah H. O’Brien, Allison Wheeler, Shilpa Jain, et al. "Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations." Blood Advances 6, no. 2 (January 17, 2022): 420–28. http://dx.doi.org/10.1182/bloodadvances.2021005118.
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Abstract Adolescents with low von Willebrand factor (VWF) levels and heavy menstrual bleeding (HMB) experience significant morbidity. There is a need to better characterize these patients genetically and improve our understanding of the pathophysiology of bleeding. We performed whole-exome sequencing on 86 postmenarchal patients diagnosed with low VWF levels (30-50 IU/dL) and HMB and compared them with 660 in-house controls. We compared the number of rare stop-gain/stop-loss and rare ClinVar “pathogenic” variants between cases and controls, as well as performed gene burden and gene-set burden analyses. We found an enrichment in cases of rare stop-gain/stop-loss variants in genes involved in bleeding disorders and an enrichment of rare ClinVar “pathogenic” variants in genes involved in anemias. The 2 most significant genes in the gene burden analysis, CFB and DNASE2, are associated with atypical hemolytic uremia and severe anemia, respectively. VWF also surpassed exome-wide significance in the gene burden analysis (P = 7.31 × 10−6). Gene-set burden analysis revealed an enrichment of rare nonsynonymous variants in cases in several hematologically relevant pathways. Further, common variants in FERMT2, a gene involved in the regulation of hemostasis and angiogenesis, surpassed genome-wide significance. We demonstrate that adolescents with HMB and low VWF have an excess of rare nonsynonymous and pathogenic variants in genes involved in bleeding disorders and anemia. Variants of variable penetrance in these genes may contribute to the spectrum of phenotypes observed in patients with HMB and could partially explain the bleeding phenotype. By identifying patients with HMB who possess these variants, we may be able to improve risk stratification and patient outcomes.
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Wang, Shuangkuai, Yuantao Tong, Hui Zong, Xuewen Xu, M. James C. Crabbe, Ying Wang, and Xiaoyan Zhang. "Multi-Level Analysis and Identification of Tumor Mutational Burden Genes across Cancer Types." Genes 13, no. 2 (February 17, 2022): 365. http://dx.doi.org/10.3390/genes13020365.
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Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). However, there are still inconsistent standards of gene panels using next-generation sequencing and poor correlation between the TMB genes, immune cell infiltrating, and prognosis. We applied text-mining technology to construct specific TMB-associated gene panels cross various cancer types. As a case exploration, Pearson’s correlation between TMB genes and immune cell infiltrating was further analyzed in colorectal cancer. We then performed LASSO Cox regression to construct a prognosis predictive model and calculated the risk score of each sample for receiver operating characteristic (ROC) analysis. The results showed that the assessment of TMB gene panels performed well with fewer than 500 genes, highly mutated genes, and the inclusion of synonymous mutations and immune regulatory and drug-target genes. Moreover, the analysis of TMB differentially expressed genes (DEGs) suggested that JAKMIP1 was strongly correlated with the gene expression level of CD8+ T cell markers in colorectal cancer. Additionally, the prognosis predictive model based on 19 TMB DEGs reached AUCs of 0.836, 0.818, and 0.787 in 1-, 3-, and 5-year OS models, respectively (C-index: 0.810). In summary, the gene panel performed well and TMB DEGs showed great potential value in immune cell infiltration and in predicting survival.
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Jiao, Xiaodong, Xiaochun Zhang, Baodong Qin, Dong Liu, Liang Liu, Jianjiao Ni, Ningyu Zhou, et al. "Tumor mutation burden analysis in a 5,660 cancer patient cohort reveals cancer type-specific mechanisms for high mutation burden." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 2589. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.2589.
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2589 Background: Tumor mutation burden (TMB), calculated by whole-exome sequencing (WES) or large NGS panels, has an important association with immunotherapy responses. Elucidating the underlying biological mechanisms of high TMB might help develop more precise and effective means for TMB and immunotherapy response prediction. Meanwhile, the landscape of TMB across different cancer types and its association with other molecular features have not been well investigated in large cohorts in China. Methods: Cancer patients whose fresh tissue (n = 1556), formalin-fixed, paraffin-embed (FFPE) specimen (n = 1794), and pleural fluid (n = 84) were profiled using 295- or 520-gene NGS panel. The association of the TMB status with a series of molecular features and biological pathways was interrogated using bootstrapping. Results: TMB, measured by 295- or 520-cancer-related gene panels, were correlated with WES TMB based on in silico simulation in the TCGA cohort. We compared the TMB landscape across 11 cancer type groups and found the highest average TMB in lung squamous cell carcinoma, whereas the lowest TMB was established in sarcoma. High microsatellite instability, DNA damage response deficiency, and homologous recombination repair deficiency indicated significantly higher TMB. The independent predictive power for TMB of twenty-six biological pathways was tested in 10 cancer groups. FoxO signaling pathway most commonly correlated with low-TMB; significant association was identified in four cancer groups. In contrast, no pathway was significantly correlated with high-TMB in more than two cancer groups. Overall, we discovered that the underlying pathways which may be the main drivers of TMB status varied greatly and sometimes had an opposite association with TMB across different cancer types. Moreover, we developed a 14- and 22-gene signature for TMB prediction for LUAD and LUSC, respectively, with only 10 genes shared by both signatures, indicating a histology-specific mechanism for driving high-TMB in lung cancer. Conclusions: The findings extended the knowledge of the underlying biological mechanisms for high TMB and might be helpful for developing more precise and accessible TMB assessment panels and algorithms in more cancer types.
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Cooper-Knock, Johnathan, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, et al. "Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene." Cell Reports 34, no. 5 (February 2021): 108730. http://dx.doi.org/10.1016/j.celrep.2021.108730.
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Cooper-Knock, Johnathan, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, et al. "Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene." Cell Reports 33, no. 9 (December 2020): 108456. http://dx.doi.org/10.1016/j.celrep.2020.108456.
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Seo, Eun Seop, Eun-jin Lee, Boram Lee, Muheon Shin, Young-Seok Cho, Ju Kyung Hyun, Hee Won Cho, et al. "Metastatic Burden Defines Clinically and Biologically Distinct Subgroups of Stage 4 High-Risk Neuroblastoma." Journal of Clinical Medicine 9, no. 9 (August 24, 2020): 2730. http://dx.doi.org/10.3390/jcm9092730.
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This study aimed to identify the prognostic subgroups of stage 4 high-risk neuroblastoma based on metastatic burden and explore their distinct clinical and genomic features. Patients aged ≥18 months with stage 4 and metaiodobenzylguanidine-avid neuroblastoma were enrolled. One hundred and thirty eligible patients were treated under the tandem high-dose chemotherapy scheme. Prognostic significance of metastatic burden measured by the modified Curie score was analyzed using a competing risk approach, and the optimal cut-point was determined. Metastasis-specific subgroups (cut-point: 26) were compared using clinicopathological variables, and differential gene expression analysis and gene set variation analysis (GSVA) were performed using RNA sequencing (RNA-seq). Metastatic burden at diagnosis showed a progressive association with relapse/progression. After applying the cut-point, patients with high metastatic burden showed >3-fold higher risk of relapse/progression than those with low metastatic burden. Moreover, patients with high metastatic burden showed smaller primary tumors and higher biochemical marker levels than those with low metastatic burden. In the genomic analysis, 51 genes were found to be differentially expressed based on the set criteria. GSVA revealed 55 gene sets, which significantly distinguished patients with high metastatic burden from those with low metastatic burden at a false discovery rate <0.25. The results indicated the prognostic significance of metastatic burden in stage 4 high-risk neuroblastoma, and we identified the distinct clinicopathological and genomic features based on metastatic burden. This study may aid in the better understanding and risk-stratification of stage 4 high-risk neuroblastoma patients.
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Frampton, Matthew, Elena R. Schiff, Nikolas Pontikos, Anthony W. Segal, and Adam P. Levine. "Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families." F1000Research 7 (March 6, 2018): 281. http://dx.doi.org/10.12688/f1000research.13930.1.
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This article introduces seqfam, a python package which is primarily designed for analysing next generation sequencing (NGS) DNA data from families with known pedigree information in order to identify rare variants that are potentially causal of a disease/trait of interest. It uses the popular and versatile Pandas library, and can be straightforwardly integrated into existing analysis code/pipelines. Seqfam can be used to verify pedigree information, to perform Monte Carlo gene dropping, to undertake regression-based gene burden testing, and to identify variants which segregate by affection status in families via user-defined pattern of occurrence rules. Additionally, it can generate scripts for running analyses in a “MapReduce pattern” on a computer cluster, something which is usually desirable in NGS data analysis and indeed “big data” analysis in general. This article summarises how seqfam’s main user functions work and motivates their use. It also provides explanatory context for example scripts and data included in the package which demonstrate use cases. With respect to verifying pedigree information, software exists for efficiently calculating kinship coefficients, so seqfam performs the necessary extra steps of mapping pedigrees and kinship coefficients to expected and observed degrees of relationship respectively. Gene dropping and the application of variant pattern of occurrence rules in families can provide evidence for a variant being causal. The authors are unaware of other software which performs these tasks in familial cohorts, so seqfam fulfils this need. Gene burden rather than single marker tests are often used to detect rare causal variants due to greater power. Seqfam may be an attractive alternative to existing gene burden testing software due to its flexibility, particularly in grouping and aggregating variants.
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Taylor, Jacquelyn Y., Erin B. Ware, Michelle L. Wright, Jennifer A. Smith, and Sharon L. R. Kardia. "Using Genetic Burden Scores for Gene-by-Methylation Interaction Analysis on Metabolic Syndrome in African Americans." Biological Research For Nursing 21, no. 3 (February 19, 2019): 279–85. http://dx.doi.org/10.1177/1099800419828486.
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With the rapid advancement of omics-based research, particularly big data such as genome- and epigenome-wide association studies that include extensive environmental and clinical variables, data analytics have become increasingly complex. Researchers face significant challenges regarding how to analyze multifactorial data and make use of the findings for clinical translation. The purpose of this article is to provide a scientific exemplar for use of genetic burden scores as a data analysis method for studies with both genotype and DNA methylation data in which the goal is to evaluate associations with chronic conditions such as metabolic syndrome (MetS). This study included 739 African American men and women from the Genetic Epidemiology Network of Arteriopathy Study who met diagnostic criteria for MetS and had available genetic and epigenetic data. Genetic burden scores for evaluated genes were not significant after multiple testing corrections, but DNA methylation at 2 CpG sites (dihydroorotate dehydrogenase cg22381196 pFDR = .014; CTNNA3 cg00132141 pFDR = .043) was significantly associated with MetS after controlling for multiple comparisons. Interactions between the marginally significant CpG sites and burden scores, however, were not significant. More work is required in this area to identify intermediate biological pathways influenced by environmental, genetic, and epigenetic variation that may explain the high prevalence of MetS among African Americans. This study does serve, however, as an example of the use of the genetic burden score as an alternative data analysis approach for complex studies involving the analysis of genetic and epigenetic data simultaneously.
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Choi, Sungkyoung, Sungyoung Lee, Yongkang Kim, Heungsun Hwang, and Taesung Park. "HisCoM-GGI: Hierarchical structural component analysis of gene–gene interactions." Journal of Bioinformatics and Computational Biology 16, no. 06 (December 2018): 1840026. http://dx.doi.org/10.1142/s0219720018400267.
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Although genome-wide association studies (GWAS) have successfully identified thousands of single nucleotide polymorphisms (SNPs) associated with common diseases, these observations are limited for fully explaining “missing heritability”. Determining gene–gene interactions (GGI) are one possible avenue for addressing the missing heritability problem. While many statistical approaches have been proposed to detect GGI, most of these focus primarily on SNP-to-SNP interactions. While there are many advantages of gene-based GGI analyses, such as reducing the burden of multiple-testing correction, and increasing power by aggregating multiple causal signals across SNPs in specific genes, only a few methods are available. In this study, we proposed a new statistical approach for gene-based GGI analysis, “Hierarchical structural CoMponent analysis of Gene–Gene Interactions” (HisCoM-GGI). HisCoM-GGI is based on generalized structured component analysis, and can consider hierarchical structural relationships between genes and SNPs. For a pair of genes, HisCoM-GGI first effectively summarizes all possible pairwise SNP–SNP interactions into a latent variable, from which it then performs GGI analysis. HisCoM-GGI can evaluate both gene-level and SNP-level interactions. Through simulation studies, HisCoM-GGI demonstrated higher statistical power than existing gene-based GGI methods, in analyzing a GWAS of a Korean population for identifying GGI associated with body mass index. Resultantly, HisCoM-GGI successfully identified 14 potential GGI, two of which, (NCOR2 [Formula: see text] SPOCK1) and (LINGO2 [Formula: see text] ZNF385D) were successfully replicated in independent datasets. We conclude that HisCoM-GGI method may be a valuable tool for genome to identify GGI in missing heritability, allowing us to better understand the biological genetic mechanisms of complex traits. We conclude that HisCoM-GGI method may be a valuable tool for genome to identify GGI in missing heritability, allowing us to better understand biological genetic mechanisms of complex traits. An implementation of HisCoM-GGI can be downloaded from the website ( http://statgen.snu.ac.kr/software/hiscom-ggi ).
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Trimarchi, Matteo, Giacomo Bertazzoni, Alessandro Vinciguerra, Celia Pardini, Fabio Simeoni, Davide Cittaro, Mario Bussi, and Dejan Lazarevic. "Gene Expression Analysis in Patients with Cocaine-Induced Midline Destructive Lesions." Medicina 57, no. 9 (August 24, 2021): 861. http://dx.doi.org/10.3390/medicina57090861.
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Background and Objectives: Cocaine users may present with positive antineutrophil cytoplasmic antibodies (ANCA) and severe midline destructive lesions (CIMDL) which are histologically characterized by massive apoptosis. However, histopathological and laboratory studies suggest that autoimmunity may not be the main pathogenic driver. We analyzed gene expression both in cell lines of nasal mucosa exposed to cocaine and in CIMDL patients to determine whether genetic predisposition might cause such lesions, which are observed in a minority of cocaine abusers. Materials and Methods: The genetic expression profile of nasal mucosa exposed to cocaine was analyzed. Rare variants of expressed genes were searched in patients with CIMDL using exome sequencing and bio-informatics. Results: We identified 462 genes that were induced by cocaine, mainly related to apoptosis and autophagy in response to oxidative stress. Under the hypothesis that genes linked to the phenotype are also induced by cocaine itself, a rare variants burden test was performed to select genes that were significantly enriched in rare mutations. Next, 11 cocaine abusers with CIMDL and no other relevant medical comorbidities underwent exome sequencing, and 12 genes that were significantly enriched in the burden test and present in at least 10 patients were identified. An in-depth analysis of these genes revealed their involvement in apoptosis, tissue homeostasis, autophagy, and response to oxidative stress. Conclusions: Oxidative stress and rare genetic alterations in the response to reactive oxygen species, apoptosis, autophagy, and tissue regeneration are plausible drivers of damage affecting nasal mucosa exposed to cocaine crystals and, consequently, the pathogenic mechanism behind CIMDL.
Books on the topic "Gene burden analysis"
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Stern, Alexandra Minna. Gender and Sexuality: A Global Tour and Compass. Edited by Alison Bashford and Philippa Levine. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780195373141.013.0010.
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This article considers the adjacent analytics of gender and sexuality and explores the emergence, consolidation, and persistence of eugenics over the twentieth century with keen attention to transnational variations and networks. It seeks to synthesize the growing body of literature on gender, sexuality, and eugenics and discusses various examples for hereditarian ideas and practices in the United States and Latin America. Furthermore, it turns to three substantive areas and discusses women's ambivalent relationship to eugenics, with emphasis on how female reformers navigated the tensions between breeding as an act of empowerment versus a biological burden. It examines the complicated relationship between sexology and eugenic thought, which ultimately supports an overwhelmingly hetero-normative interpretation of the family, despite scattered subversive possibilities. Finally, it concludes with a brief discussion about eugenic continuities into the twenty-first century, especially in regard to debates over the gay gene and the demonization of same-sex relationships and families.
Book chapters on the topic "Gene burden analysis"
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Abdallah, Sarah B., and Thomas V. Fernandez. "Genetic Susceptibility in Tourette Syndrome." In Tourette Syndrome, edited by Sarah B. Abdallah and Thomas V. Fernandez, 125–36. 2nd ed. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197543214.003.0009.
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Abstract Early twin and family studies point to a significant genetic contribution to Tourette syndrome (TS). Informed by early segregation analyses in TS families pointing to a single-gene autosomal dominant inheritance pattern with partial penetrance, initial efforts at gene discovery in TS utilized parametric linkage analysis in large multigenerational families but failed to identify a single specific genetic locus. Later segregation analyses supported the current characterization of TS as a complex, genetically heterogeneous disorder. Nonparametric linkage analyses have yet to identify common TS risk alleles. Candidate gene association studies in TS have not yielded significant reproducible findings. Genome-wide association studies (GWAS) have proven valuable for identifying and replicating loci for common complex traits and disorders across the medical field. A GWAS meta-analysis of almost 5,000 cases identified a significant locus in FLT3. Polygenic risk scores, calculated from the most recent TS GWAS summary statistics, have shown correlation with tic severity and affected status in independent samples. There has been an increasing effort to evaluate the contribution of rare allele variants toward TS. Recent studies have found a greater burden of rare copy number variants in TS cases; the largest study to date identified NRXN1 and CNTN6 as TS risk genes. Identifying rare de novo single nucleotide variants and indels in more than 800 parent–child trios has so far identified six likely TS risk genes (WWC1, CELSR3, OPA1, NIPBL, FN1, and FBN2), which present an enriched function for cell polarity.
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Nigam, Nitu, Prithvi Kumar Singh, Suhasini Bhatnagar, Sanjay Kumar Nigam, and Anil Kumar Tripathi. "An Early Diagnosis of Thalassemia: A Boon to a Healthy Society." In Blood - Updates on Hemodynamics and Thalassemia. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.100357.
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The β-thalassemia is a hereditary blood disorders, characterized by reduced or absent synthesis of the hemoglobin beta chain that cause microcytic hypochromic anemia. An early diagnosis, economical test, awareness programs and prenatal screening will be a milestone for the eradication of this genetic disorder and to reduce burden of the health sector of a country subsequently the economics. Initially, the diagnosis of β-thalassemia depends on the hematological tests with red cell indices that disclosed the microcytic hypochromic anemia. Hemoglobin analysis shows the abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA). In severe anemia, the hemoglobin analysis by HPLC reveals decreased quantities of HbA and increased the level of hemoglobin F (HbF). The decrease level of MCV and MCH are also associated with β-thalassemia. There are various different molecular techniques such as ARMS PCR, allele-specific PCR, Gap PCR, denaturing gradient gel electrophoresis, reverse dot blotting, DGGE, SSCP, HRM, MLPA, sequencing technology and microarray available to identify the globin chain gene mutations. These molecular techniques can be clustered for detection by mutation types and alteration in gene sequences.
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Nawaz, Sadia, and Humna Masood. "Preimplantation, Prenatal, and Postnatal Diagnosis." In Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics, 29–44. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/9789815079517122010006.
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Pre-implantation genetic diagnosis (PGD) is a practical alternate evolving approach to prenatal diagnosis and termination of pregnancies in families with a high risk of Mendelian monogenetic and polygenetic disorders. Pre-implantation genetic diagnosis testing is continuing to extend immensely, along with a novel genetic analysis and in vitro fertilization approaches are in practice in the medical field throughout the world. However, PGD is regarded as ethically sensitive because repetitive termination of pregnancy causes huge psychological effects on the couples, and also because the low rate of pregnancy and birth makes it unreliable compared to prenatal testing. But it is also helpful in achieving additional goals e.g., improved embryo and gender selection, overcoming the chances of birth of a child with an unknown genetic defect, better understanding of epigenomic regulations and reduction in the monetary burden of society. This chapter focuses on PGD, its procedure, utility and advantages, goals and objectives and the various issues surrounding it. We also discuss the future of this technology at the end of the chapter
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Kumawat, Gayatri, Chander Kanta Kumawat, Kailash Chandra, Saurabh Pandey, Subhash Chand, Udit Nandan Mishra, Devidutta Lenka, and Rohit Sharma. "Insights into Marker Assisted Selection and Its Applications in Plant Breeding." In Plant Breeding - Current and Future Views [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.95004.
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Burgeoning the human population with its required food demand created a burden on ever-decreasing cultivated land and our food production systems. This situation prompted plant scientists to breed crops in a short duration with specific traits. Marker-assisted selection (MAS) has emerged as a potential tool to achieve desirable results in plants with the help of molecular markers and improves the traits of interest in a short duration. The MAS has comprehensively been used in plant breeding to characterize germplasm, diversity analysis, trait stacking, gene pyramiding, multi-trait introgression, and genetic purity of different cereals, pulses, oilseeds, and fiber crops, etc. Mapping studies pointed out several marker-trait associations from different crop species, which specifies the potential application of MAS in accelerating crop improvement. This chapter presents an overview of molecular markers, their genesis, and potential use in plant breeding.
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Morales-Villegas, Enrique C., and Kausik K. Ray. "PCSK9 Inhibition with Evolocumab Reaching Physiologic LDL-C Levels for Reducing Atherosclerotic Burden and Cardiovascular Disease-The Full Landscape." In Frontiers in Cardiovascular Drug Discovery: Volume 4, 148–85. BENTHAM SCIENCE PUBLISHERS, 2019. http://dx.doi.org/10.2174/9781681083995118040007.
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Physiologically, in the presence of an intracellular deficit of cholesterol, the LDLR synthesis, expression and function increase, thus uptaking and providing cholesterol to the cell. This process is counter-regulated by PCSK9 expression, the protease inducing LDLR proteolysis, thereby limiting its function maintaining a constant cholesterol intracellular concentration. Accordingly, the balance between PCSK9 and LDLR regulates the intracellular concentration of cholesterol and in consequence has impact on circulating LDL-cholesterol. This chapter reviews the brief and amazing recent history with PCSK9 inhibition from basic science to current clinical recommendations for MAbs-PCSK9. In 2003 and 2005, respectively, the pcsk9 gene mutations, determinants of the “gain of function” of PCSK9 and severe hypercholesterolemia, and the pcsk9 gene mutations with “loss of function” of PCSK9, determinants of hypocholesterolemia were described; subsequently, in 2006, the association between the pcsk9 gene mutations and the “loss of function” of PCSK9 with hypocholesterolemia and reduction of up to 88% for the risk of a coronary event in the “mutant” population versus the control population was published. Since evolocumab clinical research program has completed and published their phases I, II and III results including its cardiovascular outcomes trial, this chapter is focused in reviewing the results of evolocumab clinical research program. In 2009, the effect of a “full human” monoclonal antibody vs PCSK9 in mice and non-human primates was first reported; MAb-PCSK9, AMG-145 (evolocumab) produced in cynomolgus monkeys a doubling in the number of LDLR and an average 75% reduction in circulating LDL-cholesterol. In 2012, the first phase I study with evolocumab versus placebo were reported; this program informed very significant reductions in LDLcholesterol in healthy subjects and patients with familial and non-familial hyper cholesterolemia treated without/with statins; tolerability and safety of evolocumab were similar to placebo. With this evidence, the phase II and III investigations with evolocumab initiated; four years later, the OSLER trial allowed us to envisage the following scenario: MAb-PCSK9 evolocumab have a favorable effect on LDLcholesterol, other apo-B100 lipoproteins and overall mortality and myocardial infarction; all the aforementioned with a very favorable safety and tolerability profile. In the same direction, in 2016 was published the GLAGOV trial, wich demonstrates for the first time that the addition of a non-statin therapy -evolocumab- to the optimal treatment with statins is associated with atheroregression; and finally, in 2017, the FOURIER and the EBBINGHAUS trials were presented, wich confirmed that the addition of evolocumab to the optimal treatment with statins is associated with an additional and significant 20% relative risk reduction -26 months of follow-up- for cardiovascular mortality, myocardial infarction and/or ischemic stroke, all without neurocognitive risk. Beyond the currently approved indications by regulatory agencies, considering the high cost of PCSK9 inhibitors and financial restraints within healthcare budgets, for now and before definitive and necessary cost-effectiveness analysis and price optimization are in place, evolocumab is recommended in specific clinical scenarios reviewed in this chapter.
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Giles, Cynthia. "Environmental Enforcement in the Next Gen Era." In Next Generation Compliance, 257—C11.N46. Oxford University PressNew York, 2022. http://dx.doi.org/10.1093/oso/9780197656747.003.0012.
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Abstract Tough enforcement—both civil and criminal—will always be essential to environmental protection. Next Gen doesn’t change that. By insisting that regulations force stronger compliance out of the gate, Next Gen allows enforcers to do what they do best: focus on new and unanticipated problems, emergencies, and the worst violators, including environmental criminals. It allows enforcers to be far more strategic, taking on the sectors causing disproportionate harm and elevating the urgency of environmental justice. Enforcement can also show environmental regulators how to make the most of new monitoring and analytic tools and explore creative solutions in both regulations and enforcement cases. Freed from the impossible burden of plugging gaping compliance holes created by bad rule design, enforcers can instead be leaders in the push for regulatory innovation and protecting the most vulnerable. This chapter describes the critical role of revitalized enforcement in the Next Gen era.
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Díaz López, Elsa. "Vaccination against Human Papillomavirus (HPV) in Vulnerable Populations. Sexual Minorities." In Papillomaviridae Infections and Related Cancers - The Neo Challenges and Next Gen Solutions [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.102460.
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The human papillomavirus (HPV) is one of the most frequent sexually transmitted infections worldwide, causing cancers including cervical cancer and diseases such as genital warts and oral papillomatosis, these diseases affect both men and women. HPV vaccination has been one of the main tools to decrease the burden of HPV disease. In many countries, national vaccination programs do not provide for their application to boys, men, as well as adults, although their efficacy and immunogenicity has been demonstrated. There are vulnerable populations such as the LGBTTTIQA population (Lesbian, Gay, Bisexual, Transgender, Transvestite, Intersex, Queer and Asexual) in which HPV immunization should be emphasized since they present greater risks of infection and, they face not only social stigmatization but also often that coming from medical services resulting in cases with more advanced cancers and little primary prevention. When talking about sexual and reproductive health, points of inequity that require their resolution must be analyzed, initiating this, from a bioethical analysis.
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Crawforth, Hannah. "‘A father to the soul and a son to the body’: gender and generation in Robert Southwell’s Epistle to his father." In Conversions. Manchester University Press, 2017. http://dx.doi.org/10.7228/manchester/9780719099151.003.0004.
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In an ‘Epistle to his Father’, the Jesuit priest and poet Robert Southwell signs himself ‘Your most dutiful and loving son’. Dutiful it may be, but loving this letter certainly is not. Southwell threatens his father with a horrifying vision of his ‘departing-bed’, asking him to imagine himself ‘burdened with the heavy load of your former trespasses, and gored with the sting and prick of a festered conscience’, feeling ‘the cramp of death wresting your heart-strings’. This essay considers the relationship between Southwell’s construction of gender identity and his attempts to convert English Protestants – beginning with those in his own family. Southwell’s role as a son, and his relationship to his father, is central here, as this chapter reveals the ways in which early modern masculinity is both engendered and called into question by the process of religious conversion. The chapter also considers a different kind of conversion; that which Southwell effects upon the literary genre of the letter of advice. Drawing out the etymological relationship between ‘gender’, ‘genre’ and ‘generation,’ the analysis work in the interstices of these terms, showing their centrality to the confessional narrative at the heart of this volume.
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Tamasauskas, Carlos, Abilio Pereira Pacheco, and Fantina Tedim. "Comparative Analysis of Multisensor Burned Area Products for the Brazilian Amazon – Region of the APA Triunfo do Xingu." In Advances in Forest Fire Research 2022, 109–14. Imprensa da Universidade de Coimbra, 2022. http://dx.doi.org/10.14195/978-989-26-2298-9_17.
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Wildfires are not natural phenomena of the Amazon rainforest; therefore, they occur due to human activities, and their occurrences have increased in recent years. This situation requires continuous monitoring of this vast region, especially in areas where agricultural, livestock, mining, and infrastructure activities are located near protected areas (indigenous lands and nature conservation units). One of the conservation units that has recorded the highest increases in deforestation and fire rates is the Triunfo do Xingu Environmental Protection Area (APA Triunfo do Xingu), which since 2018 has registered the highest rates among other conservation units in the Amazon. The present study aims to develop two databases of burned areas from optical and microwave images for the years 2018, 2019, and 2020 for the APA Triunfo do Xingu using Google Earth Engine; then the results are compared with the DETER, MAPBIOMAS and MCD64A1 burned area bases to estimate existing similarities and divergences. This research uses the images of the Sentinel-2/S-2 and Landsat-8/L-8 optical satellites for the month of August of the years 2018, 2019, and 2020, a period of increased occurrences of active fires in the APA Triunfo do Xingu, to generate the burned area database that will serve as a reference for comparison with other burned area databases. Thus, images with spatial resolution, S-2 with 10 meters and L-8 with 30 meters and spectral (red, near, and medium infrared bands), are suitable for generating information with geometric and thematic quality, as the GEE allows the production of pixel mosaics excluding pixels with cloud and cloud shadows. The Sentinel-1/S-1 images used correspond to the VH cross-polarization, which is the most suitable polarization to map burned area than the VV polarization (Prasasti et al., 2020), having 10 meters of spatial resolution, being with speckle noise filter and with backscatter (DB) values. It is noteworthy that the S-1 images correspond to Band C, the wavelength of 5 cm, which reduces the interference of clouds when imaging the surface. In general, the BA-S1, BA-DETER, BA-MAPBIOMAS, and BA-MCD64A1 datasets obtained discrepant values concerning the reference dataset, which reveals that a consolidated base with values consistent with the reality of the fire regime of the study area is still to be achieved, as the discrepancies found reveal that the data and methodologies followed are not generating consistent quantitative information. Regarding the overlaps between the datasets, the spatial similarity between the datasets have a higher rate with polygons above 20 hectares, which allowed an average overlap of 63%, 69%, and 78% for the BA-S1, BA-MAPBIOMAS, and BA-MCD64A1. The BA-DETER dataset was below 20%, as it presents the lowest values of the number of polygons for the three years.
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Flint, Jonathan. "Molecular genetics." In New Oxford Textbook of Psychiatry, 222–33. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199696758.003.0029.
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The transformation of the LOD score (an acronym for log of the odds ratio), from obscurity as a footnote in medical genetics, to celebrity as multiple choice test item in professional examinations in psychiatry, epitomizes the invasion of genetics, and particularly molecular genetics into psychiatric research. Moreover, like other celebrities caught up in fast moving fields, LOD scores are likely to return to their humble origins within a few years. As molecular genetic approaches to mental health move away from simply identifying genes and DNA sequence variants towards functional studies of increasing complexity, newcomers to the field have to master an expanding literature that covers diverse fields: from quantitative genetics to cell biology, from LOD scores to epigenetics. This chapter takes on the task of making the reader sufficiently familiar with the broad range of subjects now required to follow the progress of psychiatric genetics in the primary literature. A number of achievements have to be highlighted. Foremost among these is the completion of the human genome project. Announced annually from 2001 and thereby begging the question as to what constitutes completion, the human genome project is now an essential biological resource. As expected, the ability to sequence whole genomes has transformed the way genetics is carried out, perhaps most egregiously with the rise of bioinformatics as a core discipline: discovery now takes place using the internet rather than the laboratory. Anyone with an interest in human biology should look at the frequently updated information at http://www.ensembl.org or http://genome.ucsc.edu. Without the human genome two other critical developments would have been impossible: the ability to analyse the expression of every gene in the genome and the ability to analyse (theoretically at least) every sequence variant. Both developments also depend on miniaturization technologies that enable the manufacture and interrogation of initially thousands and then millions of segments of DNA. In addition, results from the International Haplotype Map (HapMap) project, which catalogues common variation in the human genome have been crucial in making it possible to take apart the genetic basis of common, complex disorders such as depression, schizophrenia, and anxiety. Few disciplines are more burdened with jargon than molecular genetics. This is partly due to the proliferation of molecular techniques, but it is also partly intrinsic to the subject; the only unifying principle is evolution, which often operates in a very ad hoc fashion. Biological solutions to the problems posed by selection result in the adaptation of existing structures to new uses, rather than to the invention of purpose-built systems. Consequently there are few general lessons to be learnt and the novice simply has to become adept at recognizing the acronyms and neologisms that decorate the literature. The material in this chapter aims to equip the reader with the necessary terminology. It begins with the structure and function of DNA, an essential starting place for a number of reasons.
Conference papers on the topic "Gene burden analysis"
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Yang, Mengmei, Wenzhuan Xie, Mengli Huang, and Xinhua Zhu. "Abstract 2040: Analysis of DNA damage repair gene alterations and their association with tumor mutation burden in 1427 hepatocellular carcinoma patients." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-2040.
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Mandloi, Nitin, Ashwini Patil, Rekha Sathian, Aparna Mohan, Malini Manoharan, Ravi Gupta, Hiranjith Govindamangalam, and Amit Chaudhuri. "Abstract A17: Differential gene expression and tumor mutanome analysis reveal significantly enriched pathways associated with higher tumor burden of M1 and M2 macrophages." In Abstracts: AACR Special Conference on Tumor Immunology and Immunotherapy; October 20-23, 2016; Boston, MA. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/2326-6074.tumimm16-a17.
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Magnusson, Rikard, and Mats Andersson. "Operation of SGT-600 (24 MW) DLE Gas Turbine With Over 60 % H2 in Natural Gas." In ASME Turbo Expo 2020: Turbomachinery Technical Conference and Exposition. American Society of Mechanical Engineers, 2020. http://dx.doi.org/10.1115/gt2020-16332.
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Abstract Hydrogen is one of the leading options for storing energy from renewables and surplus electricity. Hydrogen is also a major constituent in various streams in the chemical industry and cannot always be used for better purposes than flaring or heat and power generation. Siemens has identified the 24MWe SGT-600 3rd generation DLE gas turbine as a candidate for having a high hydrogen capability. The burners for using hydrogen in the SGT-600 have been developed for and by Additive Manufacturing technology. The advantages of this technology have been integrated into the presented design and therefore allowing: • Rapid prototyping with possibilities for fast turnaround of tests and screening of various concepts • Manufacturing of complex geometries with smart gas passages, very innovative cooling and mixing concepts • Small series and minimum waste with reduced cost • Good repeatability and stability of product quality Burner development was carried out according to “the standard method within the industry”, meaning CFD-analysis, atmospheric single burner combustion testing followed by pressurized single burner combustion testing and finally a full-scale machine test at the SIEMENS Industrial Turbomachinery AB (SIT) test rig facility in Sweden. The rig is used for full scale testing of gas turbines in the power output range from 15MW to 62MW. It allows testing not only with standard natural gas but also gas mixtures with e.g. hydrogen or nitrogen can be run. The test facility has liquid fuel capability. During the burner development process, a project including two SGT-600 running on up to 60 volume % hydrogen was awarded to Siemens. This meant that a very definite target for the development was set and the results of these efforts are presented in this paper. An adapted 3rd gen. DLE burner design proved to be capable of using 100% hydrogen at SGT-600 full load conditions at the single burner high pressure tests giving only 35 ppm NOx@15%O2. This was a major step in the development of a hydrogen burner for the SGT-600. The following full engine test with the same burner type showed the possibility to run with 60 vol-% H2 at 0–100% load while keeping stable combustion and achieving emissions below 25 ppm NOx@15%O2 in the standard operating range of the SGT-600. At lower loads higher hydrogen contents were tested (95 vol-%) but the flow capacity of the fuel system limited the full exploration of hydrogen capability of the SGT-600 3rd gen. DLE gas turbine. The 3rd gen. DLE burner is also used in the 33MWe SGT-700 and the 62MWe SGT-800, which will also benefit from the development of the increased SGT-600 hydrogen capability. The results open the possibility of using H2 rich gas more widely in all gas turbine configurations using 3rd gen. DLE burner.
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Xu, Meng, Bo Liu, and Yue Shi. "AR Experimental Game Design of Children Character Based on Etymon Literacy Method." In 13th International Conference on Applied Human Factors and Ergonomics (AHFE 2022). AHFE International, 2022. http://dx.doi.org/10.54941/ahfe1001795.
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Purpose With the promulgation of China's "Three-child Policy", the cardinal number of children population has surged. The era of parent-child format arrives. Since ancient times, China has emphasized on education. With the development of the internet, people have improved the Chinese character position unprecedently. In recent years, the game education APP of mobile terminal has developed with irresistible force due to the development of the mobile devices and the influence of COVID-19. But due to its virtual property, offline interaction is weak, and it isn't easy to review and memorize. The preschool children at the age of 3-6 focus on the concrete thinking, and their recognition to external things mainly depends on the concretization and representation of things and the association of representation, accordingly constructing knowledge. Therefore, under the trend of reduction of excessive homework burden and off-campus tutoring, it is critical to inquire how to effectively build the popular online and offline "AR game gene" in design research. Method The significance and opportunity for etymon literacy method to be introduced to children Chinese game design is found through theoretical research; The AR technology is used in practice through technical research to build the design method of virtual and real interaction; The law of development of Children's cognition and motion interaction is researched and the characteristics of word root and grapheme of Chinese characters are split and combined to find the coherence point of Children's cognitive development and literacy method and design a set of suitable Chinese character formula, excavating the similarity of word formation thought and design thought, and enlightening children's thought with word formation; Results Chinese character laboratory aims at the children at the age of 3-6 [critical period of Whole Brain Development], is oriented by the development of multiple intelligence of children, and takes AR foundation as technological base. The whole design research is analyzed in this paper and the work formation process is summarized. Conclusions The etymon literacy method and AR experimental game are of important innovative significance in children's thinking development. Chinese character laboratory fully considers the uniqueness of children in social cognition in design through etymon literacy method, will utilize children's curiosity to introduce laboratory concept, namely experiment is game, and conducts series connection of commonly used characters in the form of Chinese character atlas from fragment to systematization. In the meanwhile, AR children's interactive games are characterized by the vivid and interesting virtual Chinese character model, entity Chinese character card, AR technology's unique interactivity, immersion and imagination, and utilize the computer technology to achieve interaction, conforming to the children's concrete thinking. In the future, technology will gradually replace mankind's left brain for calculation and analysis, but the creative thinking controlled by right brain can't be substituted by technology, because the knowledge is limited, but the imagination and creativity are limitless. This design breaks through the boundedness, singleness and fragmentization of current Chinese character literacy for children, which not only can promote the development of comprehensive quality and creative thinking, but also can help children learn Chinese characters in open thinking. So it is considered as a key to develop the potential of children in all directions.
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Choi, Hangbok, and Joshua Stone. "Changes to Sustainability of Uranium Carbide Fuel for a Long-Burn Fast Reactor Core." In ASME 2014 Small Modular Reactors Symposium. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/smr2014-3369.
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Advanced reactor concepts such as Generation-IV (Gen-IV) have been studied to fulfill the ambitious long term goals of developing a safe, sustainable, reliable, proliferation-resistant and economic nuclear energy system. The gas-cooled fast reactor (GFR) is a Gen-IV candidate for which a carbide fuel (UC, (U,Pu)C, ThC) has desirable properties in a fuel system using ceramic (SiC) cladding. This study reviews advanced fuel concepts and associated fabrication methods for a GFR, followed by available carbide fuel property data, update of fuel performance code, and assessment of the fuel performance analysis model based on irradiation test results in the Fast Flux Test Facility. The purpose of this study is to develop a fuel performance code for the design and analysis of carbide fuel and to verify the implementation of fuel property models using earlier fuel irradiation tests jointly conducted by US and Switzerland. The comparison of carbide fuel simulation results to the experimental data shows differences in the prediction of fuel temperature and swelling. Considering the limitation and uncertainty of the existing material property data, the results obtained from the updated fuel performance code indicate that more work is required to adjust and update some of the carbide fuel material property models. In the future, the coolant model will also be updated for the flexibility of code application to various advanced fuel analyses. In the long term, the code will be used for the evaluation of advanced carbide fuel with ceramic cladding and the simulation of carbide fuel irradiation tests.
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Tian, Yonghong, Wenxi Tian, Zhaoming Meng, Yingwei Wu, Guanghui Su, and Suizheng Qiu. "Sub-Channel Analysis of Pb-Bi-Cooled Reactor With Modified COBRA-EN." In 2014 22nd International Conference on Nuclear Engineering. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/icone22-30881.
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Lead-bismuth eutectic (LBE) cooled fast reactor, one of the six types of reactors in Gen-IV, has very good inherent safety and significant advantages in reducing and burning nuclear wastes, enhancing economy. Also LBE cooled accelerator driven system (ADS) has been a very innovative and potential waste burner. COBRA-EN is a mature, stable and widely-used sub-channel analysis code for light water cooled reactor but it couldn’t be applied in Pb-Bi-cooled reactor directly. Some modifications were made for COBRA-EN in the present work, then the code was named COBRA-PB and was suitable for the sub-channel analysis of Pb-Bi-cooled reactor. The modified code was verified and validated with CFX and experimental results. There was a good agreement between the two results. Then sub-channel analysis of Pb-Bi-cooled reactor was done with the modified code.
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Hsieh, Hsuan-Tsung Sean, Ning Li, Yitung Chen, Kenny Kwan, Jen-Yuan Huang, and Changyeol Lee. "Knowledge-Based Information Resource Management System for Materials of Fast Reactors." In 17th International Conference on Nuclear Engineering. ASMEDC, 2009. http://dx.doi.org/10.1115/icone17-75485.
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In the development of advanced fast reactors, materials and coolant/material interactions pose a critical barrier for higher temperature and longer core life designs. For advanced burner reactors (sodium cooled), experience has shown that the qualified structural materials and fuel cladding severely limits the economic performance. In other liquid metal cooled reactor concepts, advanced materials and better understanding and control of coolant and materials interactions are necessary for realizing the potentials. Researches from universities, national laboratories and related industrial participants have been continuously generating invaluable data and knowledge about materials and their interactions with coolants in the past few decades. Under the consideration of cost and time constraints, the paradigm of designing and implementing a successful Gen IV Nuclear Energy Systems can be shifted and updated via the integration of information and internet technologies. Such efforts can be better visualized by implementing collective (centralized or distributed) data storages to serve the community with organized material data sets. Material property data provided by MatWeb.com and the ongoing development of web-based GEN IV material handbook are few examples. From system design perspective, sodium-cooled fast reactor (SFR) proposed in the GEN IV system have been significantly developed. According to the GEN IV ten-year program plan, current R&D work will be pointed to demonstration of the design and safety characteristics, and design optimization. All of those activities follow the path of data generation, analysis, knowledge discovery and finally decision making and implementation. We are proposing to create a modularized web-based information system with models to systematically catalog existing data and guide the new development and testing to acquire new data. Technically speaking, information retrieval and knowledge discovery tools will be implemented for researchers with both information lookup options from material database and technology/development gap analysis from intelligent agent and reporting components. The goal of the system is not only to provide another database, but also to create a sharable and expandable platform-free, location-free online system for research institutes and industrial partners.
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Shang, Ziduan, Chunhua Wu, Boyu Han, Chenyu Chang, and Lutong Zhang. "Nuclear Island Basemat Modeling for Generation III Nuclear Power Plant Design in China." In 2017 25th International Conference on Nuclear Engineering. American Society of Mechanical Engineers, 2017. http://dx.doi.org/10.1115/icone25-66346.
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Nuclear Island (NI) basemat is a very thick reinforced concrete mat sitting on sub-grade soil to function as one-piece-foundation to support all super-structures anchored above the basemat. The Generation III (GEN III) NI is designed with more structures housing on the basemat, as such it is even greater in dimensions compared to GEN II. In the design process of a GEN III Passive-Safety-Plant (PSP), NI base mat is the most critical part for foundation design, since it is not only serves as the pressure boundary in foundation system but also support the whole nuclear island, carrying vertical load from upper structures, seismic loads both in vertical and horizontal directions, lateral soil pressures and buoyant force due to water table etc. For a typical AP plant the main structural systems which are housing within NI comprises of steel containment vessel (SCV), shield building (SC wall), internal structures, and auxiliary buildings etc. The scope for this paper is to investigate the approach and method which are suitable for modeling GEN III passive-safety-plant basemat. The investigation scopes are focused on (1) concrete basemat FE modeling and related subgrade medium (soil) modeling; (2) Design loads evaluation method and application for a typical basemat FE static analysis. Structurally speaking SCV is designed to directly anchored in concrete basemat, the interface between upper structure and foundation, its geometry and connection are unique and complicated, this lead to the modeling of basemat not only have to consider an appropriate FE meshing and element type selection but also need to consider the load application and transferring from the SCV to the basemat basin. Since passive-safety-plant NI basemat is a deep foundation, basemat is deeply buried below the grade, the complete foundation model not only shall consider the basemat and immediate soil under the basemat, but also need to consider the backfill soil, the surrounding soil in vicinity, fill concrete under the basemat and deeper soil condition under the basemat. Since seismic loads pose great effects on basemat and its foundation design, how to evaluation seismic loadings and simplified their application for basemat static analysis is critical for such type of foundation.
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Kim, Yong Han, Kun Jai Lee, and Won Zin Oh. "Analysis of Environmental Friendliness of Advanced Nuclear Fuel Cycle in Korea." In ASME 2003 9th International Conference on Radioactive Waste Management and Environmental Remediation. ASMEDC, 2003. http://dx.doi.org/10.1115/icem2003-4576.
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In order to show that the nuclear energy could be a clean energy, radioactive waste management, especially high level waste has to be successfully managed and also accepted by the public. As discussed, progressed and focused at GEN IV international project, reduction of long lived actinide source term and corresponding toxicity through transmutation process has been recognized as one possible solution to the problem and draw lots of attention these days and active R&D efforts are pursued and progressed worldwidely. Especially, much of interest has been initiated to the accelerator driven system (ADS) for the transmutation of the actinide as a subcritical reactors or combination to fast reactor (FR) to generate energy and transmute the HLW simultaneously in a cleaner and safer ways. This study compare and clarifies the roles and merits of the FR and ADS, which would be expected to be introduced into the future Korean nuclear fuel cycle partly, in view of environmental friendliness especially with the existing nuclear fuel cycle dominated by PWR in Korea. After selecting the most plausible and appropriate reactor strategy scenario, the mass flow balance of active radionuclides from ore to waste for several cases of advanced nuclear fuel cycle (where “advanced nuclear fuel cycle” means the nuclear fuel cycle with FR or ADS) is analyzed by computer code. Advanced nuclear fuel cycle with only FR or ADS, and with both FR and ADS were considered for this analysis. A spread sheet type of code, that compute material flow and some environmental friendliness indices chronologically, was developed and analyzed for the calculation. Some indices for the environmental friendliness (i.e. amount of actinide nuclides, radioactivity and radiotoxicity of them, and uranium resource requirement) for several types of advanced nuclear fuel cycles are analyzed comparing with those of once-through fuel cycle. According to the final results, it confirmed quantitatively that the advanced fuel cycle with FRs and ADSs would be one of the possible alternatives to relieve the burden of HLW waste management because those fuel cycle options might reduce the generation of the transuranic radionuclides by tens to hundreds times less compared to that of once-through fuel cycle. Especially advanced nuclear system combined with FR and ADS shows much better effects compared to not combined system. Resource utilization efficiency is also much upgraded high by the introduction of advanced fuel cycles with a significant high share of fast reactors (i.e. only a half amount of uranium can be consumed in case of introduction of breakeven type FR compared to once-through fuel cycle case.)
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Murugan, Muthuvel, Anindya Ghoshal, Michael Walock, Andy Nieto, Luis Bravo, Blake Barnett, Marc Pepi, et al. "Microstructure Based Material-Sand Particulate Interactions and Assessment of Coatings for High Temperature Turbine Blades." In ASME Turbo Expo 2017: Turbomachinery Technical Conference and Exposition. American Society of Mechanical Engineers, 2017. http://dx.doi.org/10.1115/gt2017-64051.
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Gas turbine engines for military/commercial fixed-wing and rotary wing aircraft use thermal barrier coatings in the high-temperature sections of the engine for improved efficiency and power. The desire to further make improvements in gas turbine engine efficiency and high power-density is driving the research and development of thermal barrier coatings with the goal of improving their tolerance to fine foreign particulates that may be contained in the intake air. Both commercial and military aircraft engines often are required to operate over sandy regions such as in the middle-east nations, as well as over volcanic zones. For rotorcraft gas turbine engines, the sand ingestion is adverse during take-off, hovering near ground, and landing conditions. Although most of the rotorcraft gas turbine engines are fitted with inlet particle separators, they are not 100% efficient in filtering fine sand particles of size 75 microns or below. The presence of these fine solid particles in the working fluid medium has an adverse effect on the durability of turbine blade thermal barrier coatings and overall performance of the engine. Typical turbine blade damage includes blade coating wear, sand glazing, Calcia-Magnesia-Alumina-Silicate (CMAS) attack, oxidation, and plugged cooling holes, all of which can cause rapid performance deterioration including loss of aircraft. The objective of this research is to understand the fine particle interactions with typical turbine blade ceramic coatings at the microstructure level. Finite-element based microstructure modeling and analysis has been performed to investigate particle-surface interactions, and restitution characteristics. Experimentally, a set of tailored thermal barrier coatings and surface treatments were down-selected through hot burner rig tests and then applied to first stage nozzle vanes of the gas generator turbine of a typical rotorcraft gas turbine engine. Laser Doppler velocity measurements were performed during hot burner rig testing to determine sand particle incoming velocities and their rebound characteristics upon impact on coated material targets. Further, engine sand ingestion tests were carried out to test the CMAS tolerance of the coated nozzle vanes. The findings from this on-going collaborative research to develop the next-gen sand tolerant coatings for turbine blades are presented in this paper.