Solid waste burial grounds interim safety analysis

International Nuclear Information System (INIS)

Saito, G.H.

1994-01-01

This Interim Safety Analysis document supports the authorization basis for the interim operation and restrictions on interim operations for the near-surface land disposal of solid waste in the Solid Waste Burial Grounds. The Solid Waste Burial Grounds Interim Safety Basis supports the upgrade progress for the safety analysis report and the technical safety requirements for the operations in the Solid Waste Burial Grounds. Accident safety analysis scenarios have been analyzed based on the significant events identified in the preliminary hazards analysis. The interim safety analysis provides an evaluation of the operations in the Solid Waste Burial Grounds to determine if the radiological and hazardous material exposures will be acceptable from an overall health and safety standpoint to the worker, the onsite personnel, the public, and the environment

Solid waste burial grounds interim safety analysis

Energy Technology Data Exchange (ETDEWEB)

Saito, G.H.

1994-10-01

This Interim Safety Analysis document supports the authorization basis for the interim operation and restrictions on interim operations for the near-surface land disposal of solid waste in the Solid Waste Burial Grounds. The Solid Waste Burial Grounds Interim Safety Basis supports the upgrade progress for the safety analysis report and the technical safety requirements for the operations in the Solid Waste Burial Grounds. Accident safety analysis scenarios have been analyzed based on the significant events identified in the preliminary hazards analysis. The interim safety analysis provides an evaluation of the operations in the Solid Waste Burial Grounds to determine if the radiological and hazardous material exposures will be acceptable from an overall health and safety standpoint to the worker, the onsite personnel, the public, and the environment.

Taking interim actions: Integrating CERCLA and NEPA to move ahead with site cleanup

International Nuclear Information System (INIS)

MacDonell, M.M.; Peterson, J.M.; Valett, G.L.; McCracken, S.H.

1991-01-01

The cleanup of contaminated sites can be expedited by using interim response actions in accordance with the Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA), as amended, and the National Oil and Hazardous Substances Pollution Contingency Plan (NCP). In fact, a major portion of some Superfund sites can be cleaned up using interim actions. For CERCLA sites being remediated by the US Department of Energy (DOE), such actions must also comply with the National Environmental Policy Act (NEPA) because the DOE has established a policy for integrating CERCLA and NEPA requirements. A strategy for the integrated documentation with implementation of interim actions has been applied successfully at the Weldon Spring site, and major cleanup projects are currently underway. This paper discusses some of the issues associated with integrating CERCLA and NEPA for interim actions and summarizes those actions that have been identified for the Weldon Spring site

Taking interim actions: Integrating CERCLA and NEPA to move ahead with site cleanup

International Nuclear Information System (INIS)

MacDonell, M.M.; Peterson, J.M.; Valett, G.L.; McCracken, S.H.

1991-01-01

The cleanup of contaminated sites can be expedited by using interim response actions in accordance with the Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA), as amended, and the National Oil and Hazardous Substances Pollution Contingency Plan (NCP). In fact, a major portion of some Superfund sites can be cleaned up using interim actions. For CERCLA sites being remediated by the US Department of Energy (DOE), such actions must also comply with the National Environmental Policy Act (NEPA) because the DOE has established a policy for integrating CERCLA and NEPA requirements. A strategy for the integrated documentation and implementation of interim actions has been applied successfully at the Weldon Spring site, and major cleanup projects are currently underway. This paper discusses some of the issues associated with integrating CERCLA and NEPA for interim actions and summarizes those actions that have been identified for the Weldon Spring site

Final hazard classification and auditable safety analysis for the 105-C Reactor Interim Safe Storage Project

International Nuclear Information System (INIS)

Rodovsky, T.J.; Larson, A.R.; Dexheimer, D.

1996-12-01

This document summarizes the inventories of radioactive and hazardous materials present in the 105-C Reactor Facility and the operations associated with the Interim Safe Storage Project which includes decontamination and demolition and interim safe storage of the remaining facility. This document also establishes a final hazard classification and verifies that appropriate and adequate safety functions and controls are in place to reduce or mitigate the risk associated with those operations

Early interim 18F-FDG PET in Hodgkin's lymphoma: evaluation on 304 patients

International Nuclear Information System (INIS)

Zinzani, Pier Luigi; Stefoni, Vittorio; Broccoli, Alessandro; Argnani, Lisa; Baccarani, Michele; Rigacci, Luigi; Puccini, Benedetta; Castagnoli, Antonio; Vaggelli, Luca; Zanoni, Lucia; Fanti, Stefano

2012-01-01

The use of early (interim) PET restaging during first-line therapy of Hodgkin's lymphoma (HL) in clinical practice has considerably increased because of its ability to provide early recognition of treatment failure allowing patients to be transferred to more intensive treatment regimens. Between June 1997 and June 2009, 304 patients with newly diagnosed HL (147 early stage and 157 advanced stage) were treated with the ABVD regimen at two Italian institutions. Patients underwent PET staging and restaging at baseline, after two cycles of therapy and at the end of the treatment. Of the 304 patients, 53 showed a positive interim PET scan and of these only 13 (24.5%) achieved continuous complete remission (CCR), whereas 251 patients showed a negative PET scan and of these 231 (92%) achieved CCR. Comparison between interim PET-positive and interim PET-negative patients indicated a significant association between PET findings and 9-year progression-free survival and 9-year overall survival, with a median follow-up of 31 months. Among the early-stage patients, 19 had a positive interim PET scan and only 4 (21%) achieved CCR; among the 128 patients with a negative interim PET scan, 122 (97.6%) achieved CCR. Among the advanced-stage patients, 34 showed a persistently positive PET scan with only 9 (26.4%) achieving CCR, whereas 123 showed a negative interim PET scan with 109 (88.6%) achieving CCR. Our results demonstrate the role of an early PET scan as a significant step forward in the management of patients with early-stage or advanced-stage HL. (orig.)

Interim Administrators in Higher Education: A National Study

Science.gov (United States)

Huff, Marie Thielke; Neubrander, Judy

2015-01-01

The focus of this paper is on the roles and experiences of interim administrators in higher education. A survey was given to current and recent interim administrators in four-year public universities and colleges across the United States. The goals were to identify the advantages and disadvantages of using and serving as interims, and to solicit…

Environmental assessment for 881 Hillside (High Priority Sites) interim remedial action

International Nuclear Information System (INIS)

1990-01-01

This Environmental Assessment evaluates the impact of an interim remedial action proposed for the High Priority Sites (881 Hillside Area) at the Rocky Flats Plant (RFP). This interim action is to be conducted to minimize the release of hazardous substances from the 881 Hillside Area that pose a potential long-term threat to public health and the environment. This document integrates current site characterization data and environmental analyses required by the Comprehensive Environmental Response, Compensation and Liability Act (CERCLA) or ''Superfund'' process, into an environmental assessment pursuant to the National Environmental Policy Act (NEPA). Characterization of the 881 Hillside Area is continuing. Consequently, a final remedial action has not yet been proposed. Environmental impacts associated with the proposed interim remedial action and reasonable alternatives designed to remove organic and inorganic contaminants, including radionuclides, from alluvial groundwater in the 881 Hillside Area are addressed. 24 refs., 5 figs., 23 tabs

Subsurface Interim Measures/Interim Remedial Action Plan/Environmental Assessment and Decision Document, Operable Unit No. 2

International Nuclear Information System (INIS)

1992-01-01

The subject Interim Measures/Interim Remedial Action plan/Environmental Assessment (IM/IRAP/EA) addresses residual free-phase volatile organic compound (VOC) contamination suspected in the subsurface within an area identified as Operable Unit No. 2 (OU2). This IM/IRAP/EA also addresses radionuclide contamination beneath the 903 Pad at OU2. Although subsurface VOC and radionuclide contamination on represent a source of OU2 ground-water contamination, they pose no immediate threat to public health or the environment. This IM/IRAP/EA identifies and evaluates interim remedial actions for removal of residual free-phase VOC contamination from three different subsurface environments at OU2. The term ''residual'' refers to the non-aqueous phase contamination remaining in the soil matrix (by capillary force) subsequent to the passage of non-aqueous or free-phase liquid through the subsurface. In addition to the proposed actions, this IM/IRAP/EA presents an assessment of the No Action Alternative. This document also considers an interim remedial action for the removal of radionuclides from beneath the 903 Pad

Decision on performing interim analysis for comparative clinical trials.

Science.gov (United States)

Pak, Kyongsun; Jacobus, Susanna; Uno, Hajime

2017-09-01

In randomized-controlled trials, interim analyses are often planned for possible early trial termination to claim superiority or futility of a new therapy. While unblinding is necessary to conduct the formal interim analysis in blinded studies, blinded data also have information about the potential treatment difference between the groups. We developed a blinded data monitoring tool that enables investigators to predict whether they observe such an unblinded interim analysis results that supports early termination of the trial. Investigators may skip some of the planned interim analyses if an early termination is unlikely. We specifically focused on blinded, randomized-controlled studies to compare binary endpoints of a new treatment with a control. Assuming one interim analysis is planned for early termination for superiority or futility, we conducted extensive simulation studies to assess the impact of the implementation of our tool on the size, power, expected number of interim analyses, and bias in the treatment effect. The numerical study showed the proposed monitoring tool does not affect size or power, but dramatically reduces the expected number of interim analyses when the effect of the treatment difference is small. The tool serves as a useful reference when interpreting the summary of the blinded data throughout the course of the trial, without losing integrity of the study. This tool could potentially save the study resources and budget by avoiding unnecessary interim analyses.

Addendum to IFMIF-CDA interim report

Energy Technology Data Exchange (ETDEWEB)

Maekawa, Hiroshi; Ida, Mizuho [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment; eds.

1996-08-01

During the second IFMIF-CDA Design Integration Workshop, the conceptual design and contents of `IFMIF-CDA Interim Report` were examined and discussed at both general and group meetings. Based on these discussion, the final IFMIF-CDA Report will be modified from the `Interim Report`. This report describes the outline of these modification. (author)

Addendum to IFMIF-CDA interim report

International Nuclear Information System (INIS)

Maekawa, Hiroshi; Ida, Mizuho

1996-08-01

During the second IFMIF-CDA Design Integration Workshop, the conceptual design and contents of 'IFMIF-CDA Interim Report' were examined and discussed at both general and group meetings. Based on these discussion, the final IFMIF-CDA Report will be modified from the 'Interim Report'. This report describes the outline of these modification. (author)

Sustainable Solutions for Nuclear used Fuels Interim Storage

International Nuclear Information System (INIS)

Arslan, Marc; Favet, Dominique; Issard, Herve; Le Jemtel, Amaury; Drevon, Caroline

2014-01-01

AREVA has a unique experience in providing sustainable solutions for used fuel management, fitted with the needs of different customers in the world and with regulation in different countries. These solutions entail both recycling and interim storage technologies. In a first part, we will describe the various types of solutions for Interim Storage of UNF that have been implemented around the world for interim storage at reactor or centralized Pad solution in canisters dry storage, vault type storages for dry storage, dry storage of transportation casks (dual purpose) pools for wet storage, The experience for all these different families of interim storages in which AREVA is involved is extensive and will be discussed with respect to the new challenges: increase of the duration of the interim storage (long term interim storage) increase of burn up of the fuels In a second part of the presentation, special recycling features will be presented. In that case, interim storage of the used fuels is ensured in pools. This provides in the long term good conditions for the behaviour of the fuel and its retrievability. With recycling, the final waste (Universal Canister of vitrified fission products and compacted hulls and end pieces): is stable and licensed in many countries for the final disposal (France, UK, Belgium, NL, Switzerland, Germany, Japan, upcoming: Spain, Australia, Italy). Presents neither safety criticality risks nor proliferation risks (AREVA conditioned HLW and LL-ILW are free of IAEA safeguard constraints thanks to AREVA process high recovery and purification yields). It can therefore be safely stored in interim storage for more than 100 years before final disposal. Some economic considerations will also be discussed. In particular, in the case of long term interim storage of used fuels, there are growing uncertainties regarding the future needs of repackaging and transportation, which can result in future cost overruns. Meanwhile, in the recycling policy

Retention of long-term interim restorations with sodium fluoride enriched interim cement

Science.gov (United States)

Strash, Carolyn

Purpose: Interim fixed dental prostheses, or "provisional restorations", are fabricated to restore teeth when definitive prostheses are made indirectly. Patients undergoing extensive prosthodontic treatment frequently require provisionalization for several months or years. The ideal interim cement would retain the restoration for as long as needed and still allow for ease of removal. It would also avoid recurrent caries by preventing demineralization of tooth structure. This study aims to determine if adding sodium fluoride varnish to interim cement may assist in the retention of interim restorations. Materials and methods: stainless steel dies representing a crown preparation were fabricated. Provisional crowns were milled for the dies using CAD/CAM technology. Crowns were provisionally cemented onto the dies using TempBond NE and NexTemp provisional cements as well as a mixture of TempBond NE and Duraphat fluoride varnish. Samples were stored for 24h then tested or thermocycled for 2500 or 5000 cycles before being tested. Retentive strength of each cement was recorded using a universal testing machine. Results: TempBond NE and NexTemp cements performed similarly when tested after 24h. The addition of Duraphat significantly decreased the retention when added to TempBond NE. NexTemp cement had high variability in retention over all tested time periods. Thermocycling for 2500 and 5000 cycles significantly decreased the retention of all cements. Conclusions: The addition of Duraphat fluoride varnish significantly decreased the retention of TempBond NE and is therefore not recommended for clinical use. Thermocycling significantly reduced the retention of TempBond NE and NexTemp. This may suggest that use of these cements for three months, as simulated in this study, is not recommended.

Rosiglitazone evaluated for cardiovascular outcomes--an interim analysis

DEFF Research Database (Denmark)

Home, Philip D; Pocock, Stuart J; Beck-Nielsen, Henning

2007-01-01

BACKGROUND: A recent meta-analysis raised concern regarding an increased risk of myocardial infarction and death from cardiovascular causes associated with rosiglitazone treatment of type 2 diabetes. METHODS: We conducted an unplanned interim analysis of a randomized, multicenter, open...... group). The primary end point was hospitalization or death from cardiovascular causes. RESULTS: Because the mean follow-up was only 3.75 years, our interim analysis had limited statistical power to detect treatment differences. A total of 217 patients in the rosiglitazone group and 202 patients...... in the control group had the adjudicated primary end point (hazard ratio, 1.08; 95% confidence interval [CI], 0.89 to 1.31). After the inclusion of end points pending adjudication, the hazard ratio was 1.11 (95% CI, 0.93 to 1.32). There were no statistically significant differences between the rosiglitazone...

The Nord interim store

International Nuclear Information System (INIS)

Leushacke, D.F.; Rittscher, D.

1996-01-01

In line with the decision taken in 1990 to shut down and decommission the Greifswald and Rheinsberg Nuclear Power Stations, the waste management concept of the Energiewerke Nord is based on direct and complete decommissioning of the six shut down reactor units within the next fifteen years. One key element of this concept is the construction and use of the Zwischenlager Nord (Nord Interim Store, ZLN) for holding the existing nuclear fuels and for interim and decay storage of the radioactive materials arising in decommissioning and demolition. The owner and operator of the store is Energiewerke Nord GmbH. The interim store has the functions of a processing and Energiewerke Nord GmbH. The interim store has the functions of a processing and treatment station and buffer store for the flows of residues arising. As a radioactive waste management station, it accommodates nuclear fuels, radioactive waste or residues which are not treated any further. It is used as a buffer store to allow the materials accumulating in disassembly to be stored temporarily before or after treatment in order to ensure continuous loading of the treatment plants. When operated as a processing station, the ZLN is able to handle nearly all types of radioactive waste and residues arising, except for nuclear fuels. These installations allow the treatment of radioactive residues to be separated from the demolition work both physically and in time. The possibilities of interium storage and buffer storage of untreated waste and waste packages make for high flexibility in logistics and waste management strategy. (orig.) [de

Interim storage of radioactive waste packages

International Nuclear Information System (INIS)

1998-01-01

This report covers all the principal aspects of production and interim storage of radioactive waste packages. The latest design solutions of waste storage facilities and the operational experiences of developed countries are described and evaluated in order to assist developing Member States in decision making and design and construction of their own storage facilities. This report is applicable to any category of radioactive waste package prepared for interim storage, including conditioned spent fuel, high level waste and sealed radiation sources. This report addresses the following issues: safety principles and requirements for storage of waste packages; treatment and conditioning methods for the main categories of radioactive waste; examples of existing interim storage facilities for LILW, spent fuel and high level waste; operational experience of Member States in waste storage operations including control of storage conditions, surveillance of waste packages and observation of the behaviour of waste packages during storage; retrieval of waste packages from storage facilities; technical and administrative measures that will ensure optimal performance of waste packages subject to various periods of interim storage

Genetically Distinct Subsets within ANCA-Associated Vasculitis

Science.gov (United States)

Lyons, Paul A.; Rayner, Tim F.; Trivedi, Sapna; Holle, Julia U.; Watts, Richard A.; Jayne, David R.W.; Baslund, Bo; Brenchley, Paul; Bruchfeld, Annette; Chaudhry, Afzal N.; Tervaert, Jan Willem Cohen; Deloukas, Panos; Feighery, Conleth; Gross, Wolfgang L.; Guillevin, Loic; Gunnarsson, Iva; P, Lorraine Harper M.R.C; Hrušková, Zdenka; Little, Mark A.; Martorana, Davide; Neumann, Thomas; Ohlsson, Sophie; Padmanabhan, Sandosh; Pusey, Charles D.; Salama, Alan D.; Sanders, Jan-Stephan F.; Savage, Caroline O.; Segelmark, Mårten; Stegeman, Coen A.; Tesař, Vladimir; Vaglio, Augusto; Wieczorek, Stefan; Wilde, Benjamin; Zwerina, Jochen; Rees, Andrew J.; Clayton, David G.; Smith, Kenneth G.C.

2013-01-01

BACKGROUND Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis is a severe condition encompassing two major syndromes: granulomatosis with polyangiitis (formerly known as Wegener’s granulomatosis) and microscopic polyangiitis. Its cause is unknown, and there is debate about whether it is a single disease entity and what role ANCA plays in its pathogenesis. We investigated its genetic basis. METHODS A genomewide association study was performed in a discovery cohort of 1233 U.K. patients with ANCA-associated vasculitis and 5884 controls and was replicated in 1454 Northern European case patients and 1666 controls. Quality control, population stratification, and statistical analyses were performed according to standard criteria. RESULTS We found both major-histocompatibility-complex (MHC) and non-MHC associations with ANCA-associated vasculitis and also that granulomatosis with polyangiitis and microscopic polyangiitis were genetically distinct. The strongest genetic associations were with the antigenic specificity of ANCA, not with the clinical syndrome. Anti–proteinase 3 ANCA was associated with HLA-DP and the genes encoding α1-antitrypsin (SERPINA1) and proteinase 3 (PRTN3) (P = 6.2×10−89, P = 5.6×10−12, and P = 2.6×10−7, respectively). Anti–myeloperoxidase ANCA was associated with HLA-DQ (P = 2.1×10−8). CONCLUSIONS This study confirms that the pathogenesis of ANCA-associated vasculitis has a genetic component, shows genetic distinctions between granulomatosis with polyangiitis and microscopic polyangiitis that are associated with ANCA specificity, and suggests that the response against the autoantigen proteinase 3 is a central pathogenic feature of proteinase 3 ANCA–associated vasculitis. These data provide preliminary support for the concept that proteinase 3 ANCA–associated vasculitis and myeloperoxidase ANCA–associated vasculitis are distinct autoimmune syndromes. (Funded by the British Heart Foundation and others.) PMID

Evolving temporal association rules with genetic algorithms

OpenAIRE

Matthews, Stephen G.; Gongora, Mario A.; Hopgood, Adrian A.

2010-01-01

A novel framework for mining temporal association rules by discovering itemsets with a genetic algorithm is introduced. Metaheuristics have been applied to association rule mining, we show the efficacy of extending this to another variant - temporal association rule mining. Our framework is an enhancement to existing temporal association rule mining methods as it employs a genetic algorithm to simultaneously search the rule space and temporal space. A methodology for validating the ability of...

Genetic and Non-genetic Factors Associated WithConstipation in Cancer Patients Receiving Opioids

OpenAIRE

Laugsand, Eivor Alette; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

2015-01-01

Objectives: To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Methods: Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation a...

1987 Federal interim storage fee study: A technical and economic analysis

International Nuclear Information System (INIS)

1987-09-01

This document is the latest in a series of reports that are published annually by Pacific Northwest Laboratory (PNL) for the US Department of Energy (DOE). This information in the report, which was prepared by E.R. Johnson Associates under subcontract to PNL, will be used by the DOE to establish a payment schedule for interim storage of spent nuclear fuel under the Federal Interim Storage (FIS) Program, which was mandated by the Nuclear Waste Policy Act of 1982. The information in this report will be used to establish the schedule of charges for FIS services for the year commencing January 1, 1988. 13 tabs

1987 Federal interim storage fee study: A technical and economic analysis

Energy Technology Data Exchange (ETDEWEB)

1987-09-01

This document is the latest in a series of reports that are published annually by Pacific Northwest Laboratory (PNL) for the US Department of Energy (DOE). This information in the report, which was prepared by E.R. Johnson Associates under subcontract to PNL, will be used by the DOE to establish a payment schedule for interim storage of spent nuclear fuel under the Federal Interim Storage (FIS) Program, which was mandated by the Nuclear Waste Policy Act of 1982. The information in this report will be used to establish the schedule of charges for FIS services for the year commencing January 1, 1988. 13 tabs.

76 FR 58790 - Notice of Interim Approval

Science.gov (United States)

2011-09-22

... to the customers. Rate Scenario 3--Original Cumberland Marketing Policy The third rate alternative... an interim basis to the customers. Rate Scenario 3--Original Cumberland Marketing Policy The third... allocated on an interim basis to the customers. Rate Scenario 3--Original Cumberland Marketing Policy The...

The Interim Financial Statements: The Case of Greece

OpenAIRE

Rogdaki, E.I.; Kazantzis, Ch.

1999-01-01

The following paper refers to the accounting and auditing issues which emerge in the preparation of the interim financial statements of the companies: Firstly, the interim financial statements are defined as being the financial statements that provide useful information about the financial position and the financial results of a company which are realized and accrued during the fiscal year. The interim financial statements can be prepared on a monthly basis, on a quarterly basis or covering a...

Effectiveness of interim remedial actions at a radioactive waste facility

International Nuclear Information System (INIS)

Devgun, J.S.; Beskid, N.J.; Peterson, J.M.; Seay, W.M.; McNamee, E.

1989-01-01

Over the past eight years, several interim remedial actions have been taken at the Niagara Falls Storage Site (NFSS), primarily to reduce radon and gamma radiation exposures and to consolidate radioactive waste into a waste containment facility. Interim remedial actions have included capping of vents, sealing of pipes, relocation of the perimeter fence (to limit radon risk), transfer and consolidation of waste, upgrading of storage buildings, construction of a clay cutoff wall (to limit the potential groundwater transport of contaminants), treatment and release of contaminated water, interim use of a synthetic liner, and emplacement of an interim clay cap. An interim waste containment facility was completed in 1986. 6 refs., 3 figs

Federal Interim Storage program

International Nuclear Information System (INIS)

Johnson, E.R.; McBride, J.A.

1984-01-01

The DOE has developed a program for providing Federal Interim Storage servies for spent nuclear fuel which complies with the requirements of the Nuclear Waste Policy Act of 1982. Although very little constructive activity in providing storage facilities can be undertaken by DOE until fuel has been certified by NRC as eligible for FIS, DOE planning and background information is such as to provide reasonable assurance that its obligations can be fulfilled when the required certifications have been issued. A fee structure providing fuel recovery of all costs associated with the FIS program, as required by the Act, has been developed. It provides for an equitable distribution of costs among users, based on the quantity of fuel requiring storage

Genetic engineering: Rifkin wins interim injunction.

Science.gov (United States)

Budiansky, S

A University of California field test of genetically altered bacteria has been halted by federal district court Judge John Sirica. His order is the result of a suit filed by Jeremy Rifkin challenging approval of the experiment by the Recombinant DNA Advisory Committee (RAC) of the National Institutes of Health. RAC has also been enjoined from considering similar NIH-funded trials while the case is pending. Rifkin claims that NIH failed to file environmental impact statements on the research. Sirica's preliminary ruling suggests that the final decision will be in Rifkin's favor, but the judge emphasized that he is weighing only the legal issues involved, not the scientific ones.

Role of genetics in infection-associated arthritis.

Science.gov (United States)

Benham, Helen; Robinson, Philip C; Baillet, Athan C; Rehaume, Linda M; Thomas, Ranjeny

2015-04-01

Genetic discoveries in arthritis and their associated biological pathways spanning the innate and adaptive immune system demonstrate the strong association between susceptibility to arthritis and control of exogenous organisms. The canonical theory of the aetiology of immune-mediated arthritis and other immune-mediated diseases is that the introduction of exogenous antigenic stimuli to a genetically susceptible host sets up the environment for an abnormal immune response manifesting as disease. A disruption in host-microbe homeostasis driven by disease-associated genetic variants could ultimately provide the source of exogenous antigen triggering disease development. We discuss genetic variants impacting the innate and adaptive arms of the immune system and their relationship to microbial control and arthritic disease. We go on to consider the evidence for a relationship between HLA-B27, infection and arthritis, and then emerging evidence for an interaction between microbiota and rheumatoid arthritis. Copyright © 2015 Elsevier Ltd. All rights reserved.

An Approach for Evaluating the Technical Quality of Interim Assessments

Science.gov (United States)

Li, Ying; Marion, Scott; Perie, Marianne; Gong, Brian

2010-01-01

Increasing numbers of schools and districts have expressed interest in interim assessment systems to prepare for summative assessments and to improve teaching and learning. However, with so many commercial interim assessments available, schools and districts are struggling to determine which interim assessment is most appropriate to their needs.…

Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes.

Science.gov (United States)

Rohde, Palle Duun; Demontis, Ditte; Cuyabano, Beatriz Castro Dias; Børglum, Anders D; Sørensen, Peter

2016-08-01

Schizophrenia is a psychiatric disorder with large personal and social costs, and understanding the genetic etiology is important. Such knowledge can be obtained by testing the association between a disease phenotype and individual genetic markers; however, such single-marker methods have limited power to detect genetic markers with small effects. Instead, aggregating genetic markers based on biological information might increase the power to identify sets of genetic markers of etiological significance. Several set test methods have been proposed: Here we propose a new set test derived from genomic best linear unbiased prediction (GBLUP), the covariance association test (CVAT). We compared the performance of CVAT to other commonly used set tests. The comparison was conducted using a simulated study population having the same genetic parameters as for schizophrenia. We found that CVAT was among the top performers. When extending CVAT to utilize a mixture of SNP effects, we found an increase in power to detect the causal sets. Applying the methods to a Danish schizophrenia case-control data set, we found genomic evidence for association of schizophrenia with vitamin A metabolism and immunological responses, which previously have been implicated with schizophrenia based on experimental and observational studies. Copyright © 2016 by the Genetics Society of America.

Disposal facility data for the interim performance

International Nuclear Information System (INIS)

Eiholzer, C.R.

1995-01-01

The purpose of this report is to identify and provide information on the waste package and disposal facility concepts to be used for the low-level waste tank interim performance assessment. Current concepts for the low-level waste form, canister, and the disposal facility will be used for the interim performance assessment. The concept for the waste form consists of vitrified glass cullet in a sulfur polymer cement matrix material. The waste form will be contained in a 2 x 2 x 8 meter carbon steel container. Two disposal facility concepts will be used for the interim performance assessment. These facility concepts are based on a preliminary disposal facility concept developed for estimating costs for a disposal options configuration study. These disposal concepts are based on vault type structures. None of the concepts given in this report have been approved by a Tank Waste Remediation Systems (TWRS) decision board. These concepts will only be used in th interim performance assessment. Future performance assessments will be based on approved designs

Development of a road materials database: Interim Report: 1st draft

CSIR Research Space (South Africa)

Jones, DJ

2003-03-01

Full Text Available The data required for a road materials database has been identified and a basic structure formulated. A set of Excel workbooks and associated worksheets has been developed as a foundation for the database and as an interim means of gathering test...

Subsurface Interim Measures/Interim Remedial Action Plan/ Environmental Assessment and Decision Document, Operable Unit No. 2

International Nuclear Information System (INIS)

1992-01-01

The subject Interim Measures/Interim Remedial Action plan/Environmental Assessment (IM/IRAP/EA) addresses residual free-phase volatile organic compound (VOC) contamination suspected in the subsurface within an area identified as Operable Unit No. 2 (OU2). This IM/IRAP/EA also addresses radionuclide contamination beneath the 903 Pad at OU2. Although subsurface VOC and radionuclide contamination on represent a source of OU2 ground-water contamination, they pose no immediate threat to public health or the environment. This volume contains five appendices

Novel genetic loci associated with hippocampal volume.

Science.gov (United States)

Hibar, Derrek P; Adams, Hieab H H; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L; Hofer, Edith; Renteria, Miguel E; Bis, Joshua C; Arias-Vasquez, Alejandro; Ikram, M Kamran; Desrivières, Sylvane; Vernooij, Meike W; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H; Beiser, Alexa; Bernard, Manon; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Gutman, Boris A; Hass, Johanna; Haukvik, Unn K; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jørgensen, Kjetil N; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre F; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; McKay, David R; Milaneschi, Yuri; Muñoz Maniega, Susana; Nho, Kwangsik; Nugent, Allison C; Nyquist, Paul; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Pütz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Saremi, Arvin; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Craen, Anton J M; De Geus, Eco J C; De Jager, Philip L; De Zubicaray, Greig I; Deary, Ian J; Debette, Stéphanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Håberg, Asta K; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J A; Van Haren, Neeltje E M; van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Vellas, Bruno; Veltman, Dick J; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, Ronald H; Zonderman, Alan B; Martin, Nicholas G; Van Duijn, Cornelia M; Wright, Margaret J; Longstreth, W T; Schumann, Gunter; Grabe, Hans J; Franke, Barbara; Launer, Lenore J; Medland, Sarah E; Seshadri, Sudha; Thompson, Paul M; Ikram, M Arfan

2017-01-18

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r g =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

CMM Interim Check Design of Experiments (U)

Energy Technology Data Exchange (ETDEWEB)

Montano, Joshua Daniel [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

2015-07-29

Coordinate Measuring Machines (CMM) are widely used in industry, throughout the Nuclear Weapons Complex and at Los Alamos National Laboratory (LANL) to verify part conformance to design definition. Calibration cycles for CMMs at LANL are predominantly one year in length and include a weekly interim check to reduce risk. The CMM interim check makes use of Renishaw’s Machine Checking Gauge which is an off-the-shelf product simulates a large sphere within a CMM’s measurement volume and allows for error estimation. As verification on the interim check process a design of experiments investigation was proposed to test a couple of key factors (location and inspector). The results from the two-factor factorial experiment proved that location influenced results more than the inspector or interaction.

Interim sanitary landfill groundwater monitoring report. 1996 Annual report

International Nuclear Information System (INIS)

Bagwell, L.A.

1997-01-01

Eight wells of the LFW series monitor groundwater quality in the Steed Pond Aquifer (Water Table) beneath the Interim Sanitary Landfill at the Savannah River Site. These wells are sampled semiannually to comply with the South Carolina Department of Health and Environmental Control Modified Municipal Solid Waste Permit 025500-1120 and as part of the SRS Groundwater Monitoring Program. Trichlorofluoromethane and 1,1,1-trichloroethane were elevated in one sidegradient well and one downgradient well during 1996. Zinc was elevated in three downgradient wells and also was detected in the associated laboratory blanks for two of those wells. Specific conductance was elevated in one background well and one sidegradient well. Barium and copper exceeded standards in one sidegradient well, and dichloromethane (a common laboratory contaminant) was elevated in another sidegradient well. Barium, copper, and dichloromethane were detected in the associated blanks for these wells, also. The groundwater flow direction in the Steed Pond Acquifer (Water Table) beneath the Interim Sanitary Landfill was to the southeast (universal transverse Mercator coordinates). The flow rate in this unit was approximately 210 ft/year during first quarter 1996 and 180 ft/yr during third quarter 1996

Genetic mutations associated with status epilepticus.

Science.gov (United States)

Bhatnagar, M; Shorvon, S

2015-08-01

This paper reports the results of a preliminary search of the literature aimed at identifying the genetic mutations reported to be strongly associated with status epilepticus. Genetic mutations were selected for inclusion if status epilepticus was specifically mentioned as a consequence of the mutation in standard genetic databases or in a case report or review article. Mutations in 122 genes were identified. The genetic mutations identified were found in only rare conditions (sometimes vanishingly rare) and mostly in infants and young children with multiple other handicaps. Most of the genetic mutations can be subdivided into those associated with cortical dysplasias, inborn errors of metabolism, mitochondrial disease, or epileptic encephalopathies and childhood syndromes. There are no identified 'pure status epilepticus genes'. The range of genes underpinning status epilepticus differs in many ways from the range of genes underpinning epilepsy, which suggests that the processes underpinning status epilepticus differ from those underpinning epilepsy. It has been frequently postulated that status epilepticus is the result of a failure of 'seizure termination mechanisms', but the wide variety of genes affecting very diverse biochemical pathways identified in this survey makes any unitary cause unlikely. The genetic influences in status epilepticus are likely to involve a wide range of mechanisms, some related to development, some to cerebral energy production, some to diverse altered biochemical pathways, some to transmitter and membrane function, and some to defects in networks or systems. The fact that many of the identified genes are involved with cerebral development suggests that status epilepticus might often be a system or network phenomenon. To date, there are very few genes identified which are associated with adult-onset status epilepticus (except in those with preexisting neurological damage), and this is disappointing as the cause of many adult

Evaluation of ERA-Interim precipitation data in complex terrain

Science.gov (United States)

Gao, Lu; Bernhardt, Matthias; Schulz, Karsten

2013-04-01

Precipitation controls a large variety of environmental processes, which is an essential input parameter for land surface models e.g. in hydrology, ecology and climatology. However, rain gauge networks provides the necessary information, are commonly sparse in complex terrains, especially in high mountainous regions. Reanalysis products (e.g. ERA-40 and NCEP-NCAR) as surrogate data are increasing applied in the past years. Although they are improving forward, previous studies showed that these products should be objectively evaluated due to their various uncertainties. In this study, we evaluated the precipitation data from ERA-Interim, which is a latest reanalysis product developed by ECMWF. ERA-Interim daily total precipitation are compared with high resolution gridded observation dataset (E-OBS) at 0.25°×0.25° grids for the period 1979-2010 over central Alps (45.5-48°N, 6.25-11.5°E). Wet or dry day is defined using different threshold values (0.5mm, 1mm, 5mm, 10mm and 20mm). The correspondence ratio (CR) is applied for frequency comparison, which is the ratio of days when precipitation occurs in both ERA-Interim and E-OBS dataset. The result shows that ERA-Interim captures precipitation occurrence very well with a range of CR from 0.80 to 0.97 for 0.5mm to 20mm thresholds. However, the bias of intensity increases with rising thresholds. Mean absolute error (MAE) varies between 4.5 mm day-1 and 9.5 mm day-1 in wet days for whole area. In term of mean annual cycle, ERA-Interim almost has the same standard deviation of the interannual variability of daily precipitation with E-OBS, 1.0 mm day-1. Significant wet biases happened in ERA-Interim throughout warm season (May to August) and dry biases in cold season (November to February). The spatial distribution of mean annual daily precipitation shows that ERA-Interim significant underestimates precipitation intensity in high mountains and northern flank of Alpine chain from November to March while pronounced

Single-shell tank interim stabilization project plan

Energy Technology Data Exchange (ETDEWEB)

Ross, W.E.

1998-03-27

Solid and liquid radioactive waste continues to be stored in 149 single-shell tanks at the Hanford Site. To date, 119 tanks have had most of the pumpable liquid removed by interim stabilization. Thirty tanks remain to be stabilized. One of these tanks (C-106) will be stabilized by retrieval of the tank contents. The remaining 29 tanks will be interim stabilized by saltwell pumping. In the summer of 1997, the US Department of Energy (DOE) placed a moratorium on the startup of additional saltwell pumping systems because of funding constraints and proposed modifications to the Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement) milestones to the Washington State Department of Ecology (Ecology). In a letter dated February 10, 1998, Final Determination Pursuant to Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement) in the Matter of the Disapproval of the DOE`s Change Control Form M-41-97-01 (Fitzsimmons 1998), Ecology disapproved the DOE Change Control Form M-41-97-01. In response, Fluor Daniel Hanford, Inc. (FDH) directed Lockheed Martin Hanford Corporation (LNMC) to initiate development of a project plan in a letter dated February 25, 1998, Direction for Development of an Aggressive Single-Shell Tank (SST) Interim Stabilization Completion Project Plan in Support of Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement). In a letter dated March 2, 1998, Request for an Aggressive Single-Shell Tank (SST) Interim Stabilization Completion Project Plan, the DOE reaffirmed the need for an aggressive SST interim stabilization completion project plan to support a finalized Tri-Party Agreement Milestone M-41 recovery plan. This project plan establishes the management framework for conduct of the TWRS Single-Shell Tank Interim Stabilization completion program. Specifically, this plan defines the mission needs and requirements; technical objectives and approach; organizational structure, roles, responsibilities

Single-shell tank interim stabilization project plan

International Nuclear Information System (INIS)

Ross, W.E.

1998-01-01

Solid and liquid radioactive waste continues to be stored in 149 single-shell tanks at the Hanford Site. To date, 119 tanks have had most of the pumpable liquid removed by interim stabilization. Thirty tanks remain to be stabilized. One of these tanks (C-106) will be stabilized by retrieval of the tank contents. The remaining 29 tanks will be interim stabilized by saltwell pumping. In the summer of 1997, the US Department of Energy (DOE) placed a moratorium on the startup of additional saltwell pumping systems because of funding constraints and proposed modifications to the Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement) milestones to the Washington State Department of Ecology (Ecology). In a letter dated February 10, 1998, Final Determination Pursuant to Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement) in the Matter of the Disapproval of the DOE's Change Control Form M-41-97-01 (Fitzsimmons 1998), Ecology disapproved the DOE Change Control Form M-41-97-01. In response, Fluor Daniel Hanford, Inc. (FDH) directed Lockheed Martin Hanford Corporation (LNMC) to initiate development of a project plan in a letter dated February 25, 1998, Direction for Development of an Aggressive Single-Shell Tank (SST) Interim Stabilization Completion Project Plan in Support of Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement). In a letter dated March 2, 1998, Request for an Aggressive Single-Shell Tank (SST) Interim Stabilization Completion Project Plan, the DOE reaffirmed the need for an aggressive SST interim stabilization completion project plan to support a finalized Tri-Party Agreement Milestone M-41 recovery plan. This project plan establishes the management framework for conduct of the TWRS Single-Shell Tank Interim Stabilization completion program. Specifically, this plan defines the mission needs and requirements; technical objectives and approach; organizational structure, roles, responsibilities

40 CFR 80.141 - Interim detergent gasoline program.

Science.gov (United States)

2010-07-01

... 40 Protection of Environment 16 2010-07-01 2010-07-01 false Interim detergent gasoline program. 80... (CONTINUED) REGULATION OF FUELS AND FUEL ADDITIVES Detergent Gasoline § 80.141 Interim detergent gasoline... apply to: (i) All gasoline sold or transferred to a party who sells or transfers gasoline to the...

[The history of the Kaiser Wilhelm Society during the Third Reich. Interim reports of the president's commission of the Max Planck Society].

Science.gov (United States)

Weber, M M

2002-11-01

In 1997 the Max Planck Society set up a presidential commission to do research on the historical development of its precursor organization, the Kaiser Wilhelm Society (KWG), during the Third Reich. This paper presents some of the important results given in the interim reports of this commission that are relevant to psychiatry. It focuses on brain research, anthropology, psychiatric genetics, and the role of the well-known biochemist Adolf Butenandt. In general, the interim reports reflect the numerous links between the biomedical research of the KWG and the institutions of the National Socialist (Nazi) state. However, they do not yet allow a final historical assessment as to the complex situation of this field of research during National Socialism.

Data management implementation plan for interim action at the Gunite and Associated Tanks, Oak Ridge National Laboratory, Oak Ridge, Tennessee

International Nuclear Information System (INIS)

1998-03-01

The Gunite and Associated Tanks (GAAT) Project is currently conducting a Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA) Interim Remedial Action to reduce uncertainties on the potential cost and effectiveness of remote tank cleaning equipment being produced jointly between the US Department of Energy (DOE); Oak Ridge National Laboratory (ORNL); Lockheed Martin Energy Systems, Inc.; and associated subcontractors with the DOE EM-50 Program. The goal of this document is to ensure that all procedures have been followed to provide reliable, verifiable data that are technically defensible. The data collected will be used to support closure of the tanks, compare the expected versus actual waste volume and curies to aid in conducting operations, and verify the performance of developmental equipment

Safety evaluation of interim stabilization of non-stabilized single-shell watch list tanks

Energy Technology Data Exchange (ETDEWEB)

Stahl, S.M.

1994-12-30

The report provides a summation of the status of safety issues associated with interim stabilization of Watch List SSTs (organic, ferrocyanide, and flammable gas), as extracted from recent safety analyses, including the Tank Farms Accelerated Safety Analysis efforts.

Safety evaluation of interim stabilization of non-stabilized single-shell watch list tanks

International Nuclear Information System (INIS)

Stahl, S.M.

1994-01-01

The report provides a summation of the status of safety issues associated with interim stabilization of Watch List SSTs (organic, ferrocyanide, and flammable gas), as extracted from recent safety analyses, including the Tank Farms Accelerated Safety Analysis efforts

Frequency and Type of Prosthetic Complications Associated with Interim, Immediately Loaded Full-Arch Prostheses: A 2-Year Retrospective Chart Review.

Science.gov (United States)

Drago, Carl

2016-08-01

The purpose of this report was to retrospectively evaluate implant and immediate full-arch prosthesis survival rates over a 24-month period; patients were consecutively treated with immediate occlusal loading. Dental arch, gender, and implant orientation (vertical vs. tilted) were also noted. All Brånemark System implants (Nobel Active) and interim, all-acrylic resin prostheses placed in patients following an All-on-Four™ protocol, in a single private practice were assessed by retrospective patient chart review. The amount of space provided surgically for implant restorative components and prostheses was determined from measurements of the vertical heights of the interim prostheses in the right/left anterior and posterior segments. These measurements were made in the laboratory. Interim prosthetic repairs (type, frequency, length of time from insertion) were analyzed by type, arch, gender, and implant orientation. Implant survival and insertion torque values were also measured. Inclusion criteria consisted of all Brånemark System implants placed with the All-on-Four protocol from September 1, 2011, until August 31, 2013. Specific dietary instructions were given for the first 7 days immediately postoperatively and for the weeks prior to insertion of the definitive prostheses. One hundred twenty-nine patients, comprising 191 arches (766 implants) from September 1, 2011, until August 31, 2013, were included in the study. One patient experienced implant failure yielding an overall implant survival rate (SR) of 99.5% (762 of 766). Four hundred twenty-six of 430 maxillary implants and 336 of 336 mandibular implants survived for SRs of 99.1% and 100%, respectively. Regarding implant orientation, 415 of 417 tilted implants (SR 99.5%) and 343 of 345 (CSR 95.6%) vertical implants were noted to be clinically stable. Interim, all-acrylic resin prostheses were in place for a mean of 199.2 days; mandibular prostheses were in place for an average of 195.4 days; maxillary

Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes

DEFF Research Database (Denmark)

Rohde, Palle Duun; Demontis, Ditte; Castro Dias Cuyabano, Beatriz

2016-01-01

was among the top performers. When extending CVAT to utilize a mixture of SNP effects, we found an increase in power to detect the causal sets. Applying the methods to a Danish schizophrenia case–control data set, we found genomic evidence for association of schizophrenia with vitamin A metabolism......Schizophrenia is a psychiatric disorder with large personal and social costs, and understanding the genetic etiology is important. Such knowledge can be obtained by testing the association between a disease phenotype and individual genetic markers; however, such single-marker methods have limited...... genomic best linear unbiased prediction (GBLUP), the covariance association test (CVAT). We compared the performance of CVAT to other commonly used set tests. The comparison was conducted using a simulated study population having the same genetic parameters as for schizophrenia. We found that CVAT...

Design review report FFTF interim storage cask

International Nuclear Information System (INIS)

Scott, P.L.

1995-01-01

Final Design Review Report for the FFTF Interim Storage Cask. The Interim Storage Cask (ISC) will be used for long term above ground dry storage of FFTF irradiated fuel in Core Component Containers (CCC)s. The CCC has been designed and will house assemblies that have been sodium washed in the IEM Cell. The Solid Waste Cask (SWC) will transfer a full CCC from the IEM Cell to the RSB Cask Loading Station where the ISC will be located to receive it. Once the loaded ISC has been sealed at the RSB Cask Loading Station, it will be transferred by facility crane to the DSWC Transporter. After the ISC has been transferred to the Interim Storage Area (ISA), which is yet to be designed, a mobile crane will be used to place the ISC in its final storage location

Choosing a spent fuel interim storage system

International Nuclear Information System (INIS)

Roland, V.; Hunter, I.

2001-01-01

The Transnucleaire Group has developed different modular solutions to address spent fuel interim storage needs of NPP. These solutions, that are present in Europe, USA and Asia are metal casks (dual purpose or storage only) of the TN 24 family and the NUHOMS canister based system. It is not always simple for an operator to sort out relevant choice criteria. After explaining the basic designs involved on the examples of the TN 120 WWER dual purpose cask and the NUHOMS 56 WWER for WWER 440 spent fuel, we shall discuss the criteria that govern the choice of a given spent fuel interim storage system from the stand point of the operator. In conclusion, choosing and implementing an interim storage system is a complex process, whose implications can be far reaching for the long-term success of a spent fuel management policy. (author)

78 FR 67442 - Congestion Mitigation and Air Quality Improvement Program Interim Guidance

Science.gov (United States)

2013-11-12

...] Congestion Mitigation and Air Quality Improvement Program Interim Guidance AGENCY: Federal Highway... Comment. SUMMARY: The FHWA is issuing Interim Guidance on the Congestion Mitigation and Air Quality.../environment/air_quality/cmaq/policy_and_guidance/2008_guidance/ guidance/. DATES: This Interim Guidance is...

47 CFR 51.715 - Interim transport and termination pricing.

Science.gov (United States)

2010-10-01

... 47 Telecommunication 3 2010-10-01 2010-10-01 false Interim transport and termination pricing. 51.715 Section 51.715 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) COMMON CARRIER... Telecommunications Traffic § 51.715 Interim transport and termination pricing. (a) Upon request from a...

ITER Conceptual design: Interim report

International Nuclear Information System (INIS)

1990-01-01

This interim report describes the results of the International Thermonuclear Experimental Reactor (ITER) Conceptual Design Activities after the first year of design following the selection of the ITER concept in the autumn of 1988. Using the concept definition as the basis for conceptual design, the Design Phase has been underway since October 1988, and will be completed at the end of 1990, at which time a final report will be issued. This interim report includes an executive summary of ITER activities, a description of the ITER device and facility, an operation and research program summary, and a description of the physics and engineering design bases. Included are preliminary cost estimates and schedule for completion of the project

Genetic variants associated with lung function

DEFF Research Database (Denmark)

Thyagarajan, Bharat; Wojczynski, Mary; Minster, Ryan L

2014-01-01

with exceptional longevity have not been identified. METHOD: We conducted a genome wide association study (GWAS) to identify novel genetic variants associated with lung function in the Long Life Family Study (LLFS) (n = 3,899). Replication was performed using data from the CHARGE/SpiroMeta consortia...

Celiac disease : moving from genetic associations to causal variants

NARCIS (Netherlands)

Hrdlickova, B.; Westra, H-J; Franke, L.; Wijmenga, C.

Genome-wide association studies are providing insight into the genetic basis of common complex diseases: more than 1150 genetic loci [2165 unique single nucleotide polymorphisms (SNPs)] have recently been associated to 159 complex diseases. The hunt for genes contributing to immune-related diseases

Association Between Coronary Artery Disease Genetic Variants and Subclinical Atherosclerosis: An Association Study and Meta-analysis.

Science.gov (United States)

Zabalza, Michel; Subirana, Isaac; Lluis-Ganella, Carla; Sayols-Baixeras, Sergi; de Groot, Eric; Arnold, Roman; Cenarro, Ana; Ramos, Rafel; Marrugat, Jaume; Elosua, Roberto

2015-10-01

Recent studies have identified several genetic variants associated with coronary artery disease. Some of these genetic variants are not associated with classical cardiovascular risk factors and the mechanism of such associations is unclear. The aim of the study was to determine whether these genetic variants are related to subclinical atherosclerosis measured by carotid intima media thickness, carotid stiffness, and ankle brachial index. A cross-sectional study nested in the follow-up of the REGICOR cohort was undertaken. The study included 2667 individuals. Subclinical atherosclerosis measurements were performed with standardized methods. Nine genetic variants were genotyped to assess associations with subclinical atherosclerosis, individually and in a weighted genetic risk score. A systematic review and meta-analysis of previous studies that analyzed these associations was undertaken. Neither the selected genetic variants nor the genetic risk score were significantly associated with subclinical atherosclerosis. In the meta-analysis, the rs1746048 (CXCL12; n = 10581) risk allele was directly associated with carotid intima-media thickness (β = 0.008; 95% confidence interval, 0.001-0.015), whereas the rs6725887 (WDR12; n = 7801) risk allele was inversely associated with this thickness (β = -0.013; 95% confidence interval, -0.024 to -0.003). The analyzed genetic variants seem to mediate their association with coronary artery disease through different mechanisms. Our results generate the hypothesis that the CXCL12 variant appears to influence coronary artery disease risk through arterial remodeling and thickening, whereas the WDR12 risk variant could be related to higher plaque vulnerability. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

A comparison of the value relevance of interim and annual financial statements

Directory of Open Access Journals (Sweden)

Mbalenhle Zulu

2017-03-01

Aim: It explores whether the value relevance of interim financial statements is higher than the value relevance of annual financial statements. Finally, it investigates whether accounting information published in interim and annual financial statements has incremental value relevance. Setting: Data for the period from 1999 to 2012 were collected from a sample of non-financial companies listed on the Johannesburg Stock Exchange. Method: The Ohlson model to investigate the value relevance of accounting information was used for the study. Results: The results show that interim book value of equity is value relevant while interim earnings are not. Interim financial statements appear to have higher value relevance than annual financial statements. The value relevance of interim and annual accounting information has remained fairly constant over the sample period. Incremental comparisons provide evidence that additional book value of equity and earnings that accrue to a company between interim and annual reporting dates are value relevant. Conclusion: The study was conducted over a long sample period (1999–2012, in an era when a technology-driven economy and more timely reporting media could have had an effect on the value relevance of published accounting information. To the best of our knowledge, this is the first study to evaluate and compare the value relevance of published interim and annual financial statements.

Coronary artery disease-associated genetic variants and biomarkers of inflammation

DEFF Research Database (Denmark)

Christiansen, Morten Krogh; Larsen, Sanne Bøjet; Nyegaard, Mette

2017-01-01

score was calculated to assess the combined risk associated with all the genetic variants. A multiple linear regression model was used to assess associations between the genetic risk score, single SNPs, and the five inflammatory biomarkers. RESULTS:The minor allele (G) (CAD risk allele) of rs2075650......INTRODUCTION:Genetic constitution and inflammation both contribute to development of coronary artery disease (CAD). Several CAD-associated single-nucleotide polymorphisms (SNPs) have recently been identified, but their functions are largely unknown. We investigated the associations between CAD...

Functions and requirements document for interim store solidified high-level and transuranic waste

Energy Technology Data Exchange (ETDEWEB)

Smith-Fewell, M.A., Westinghouse Hanford

1996-05-17

The functions, requirements, interfaces, and architectures contained within the Functions and Requirements (F{ampersand}R) Document are based on the information currently contained within the TWRS Functions and Requirements database. The database also documents the set of technically defensible functions and requirements associated with the solidified waste interim storage mission.The F{ampersand}R Document provides a snapshot in time of the technical baseline for the project. The F{ampersand}R document is the product of functional analysis, requirements allocation and architectural structure definition. The technical baseline described in this document is traceable to the TWRS function 4.2.4.1, Interim Store Solidified Waste, and its related requirements, architecture, and interfaces.

DQO Summary Report for 105-N/109-N Interim Safe Storage Project Waste Characterization

Energy Technology Data Exchange (ETDEWEB)

T. A. Lee

2005-09-15

The DQO summary report provides the results of the DQO process completed for waste characterization activities for the 105-N/109-N Reactor Interim Safe Storage Project including decommission, deactivate, decontaminate, and demolish activities for six associated buildings.

DQO Summary Report for 105-N/109-N Interim Safe Storage Project Waste Characterization

International Nuclear Information System (INIS)

Lee, T.A.

2005-01-01

The DQO summary report provides the results of the DQO process completed for waste characterization activities for the 105-N/109-N Reactor Interim Safe Storage Project including decommission, deactivate, decontaminate, and demolish activities for six associated buildings.

Single-shell tank interim stabilization risk analysis

International Nuclear Information System (INIS)

Basche, A.D.

1998-01-01

The purpose of the Single-Shell Tank (SST) Interim Stabilization Risk Analysis is to provide a cost and schedule risk analysis of HNF-2358, Rev. 1, Single-Shell Tank Interim Stabilization Project Plan (Project Plan) (Ross et al. 1998). The analysis compares the required cost profile by fiscal year (Section 4.2) and revised schedule completion date (Section 4.5) to the Project Plan. The analysis also evaluates the executability of the Project Plan and recommends a path forward for risk mitigation

TWRS HLW interim storage facility search and evaluation

Energy Technology Data Exchange (ETDEWEB)

Calmus, R.B., Westinghouse Hanford

1996-05-16

The purpose of this study was to identify and provide an evaluation of interim storage facilities and potential facility locations for the vitrified high-level waste (HLW) from the Phase I demonstration plant and Phase II production plant. In addition, interim storage facilities for solidified separated radionuclides (Cesium and Technetium) generated during pretreatment of Phase I Low-Level Waste Vitrification Plant feed was evaluated.

Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways

NARCIS (Netherlands)

Steenman, M.; Westerveld, A.; Mannens, M.

2000-01-01

A specific subset of solid childhood tumors-Wilms' tumor, adrenocortical carcinoma, rhabdomyosarcoma, and hepatoblastoma-is characterized by its association with Beckwith-Wiedemann syndrome. Genetic abnormalities found in these tumors affect the same chromosome region (11p15), which has been

Gaz de France interim financial report 2007

International Nuclear Information System (INIS)

2007-01-01

This financial report contains the unaudited condensed financial statements of Gaz de France Group for the first half ended June 30, 2007, which were reviewed by the audit committee on August 27, 2007 and by the board of directors at its meeting on August 28, 2007. It includes forward-looking statements concerning the objectives, strategies, financial position, future operating results and the operations of Gaz de France Group. These statements reflect the Group's current perception of its activities and the markets in which it operates, as well as various estimates and assumptions considered to be reasonable. Content: interim management report (highlights of the first half of 2007, revenues and results for the period, financial structure, data on outstanding stock, outlook); interim consolidated financial statements (consolidated statements of income, consolidated balance sheets, consolidated statements of cash flows, recognized income and expenses, statements of changes in shareholders' equity, note to the consolidated financial statements); statement by the person responsible for the interim financial report; statutory auditors' report. (J.S.)

Industrial complementarities between interim storage and reversible geological repository - 59237

International Nuclear Information System (INIS)

Hoorelbeke, Jean-Michel

2012-01-01

The French Act voted in 2006 made the choice of deep geological disposal as the reference option for the long term management of high level (HLW) and intermediate level long-lived waste. The CIGEO repository project aims at avoiding or limiting burden to future generations, which could not be achieved by the extension in time of interim storage. The reversibility as provided by the Act will maintain a liberty of choice for waste management on a duration which is comparable to new storage facility. Interim storage is required to accommodate waste as long as the repository is not available. The commissioning of the repository in 2025 will not suppress needs for interim storage. The paper describes the complementarities between existing and future interim storage facilities and the repository project: repository operational issues and planning, HLW thermal decay, support for the reversibility, etc. It shows opportunities to prepare a global optimization of waste management including the utilization at best of storage capacities and the planning of waste emplacement in the repository in such a way to facilitate operational conditions and to limit cost. Preliminary simulations of storage-disposal scenarios are presented. Thanks to an optimal use of the waste management system, provision can be made for a progressive increase of waste emplacement flow during the first operation phase of the repository. It is then possible to stabilize the industrial activity level of the repository site. An optimal utilization of interim storage can also limit the diversity of waste packages emplaced simultaneously, which facilitates the operation of the repository. 60 years minimum interim storage duration is generally required with respect to HLW thermal output. Extending this interim storage period may reduce the underground footprint of the repository. Regarding reversibility, the capability to manage waste packages potentially retrieved from the repository should be analyzed. The

Physical protection of shipments of irradiated reactor fuel; Interim guidance. Regulatory report

International Nuclear Information System (INIS)

1980-06-01

During May, 1979, the U.S. Nuclear Regulatory Commission approved for issuance in effective form new interim regulations for strengthening the protection of spent fuel shipments against sabotage and diversion. The new regulations were issued without benefit of public comment, but comments from the public were solicited after the effective date. Based upon the public comments received, the interim regulations were amended and reissued in effective form as a final interim rule in May, 1980. The present document supersedes a previously issued interim guidance document, NUREG-0561 (June, 1979) which accompanied the original rule. This report has been revised to conform to the new interim regulations on the physical protection of shipments of irradiated reactor fuel which are likely to remain in effect until the completion of an ongoing research program concerning the response of spent fuel to certain forms of sabotage, at which time the regulations may be rescinded, modified or made permanent, as appropriate. This report discusses the amended regulations and provides a basis on which licensees can develop an acceptable interim program for the protection of spent fuel shipments

Use of alternative dispute resolution--HHS. Notice of interim policy.

Science.gov (United States)

1992-10-27

The Department has developed an interim policy to address the use of alternative dispute resolution (ADR) as required by the Administrative Dispute Resolution Act (ADR Act), Public Law No. 101-552. This interim policy also responds to the Negotiated Rulemaking Act, Public Law No. 101-648, and relevant elements of the Executive Order on Civil Justice Reform (E.O. 12778). The Department is adopting an interim policy because we need a baseline of experience and knowledge from our own pilot activities and those of other agencies before finalizing a policy.

50 CFR 660.720 - Interim protection for sea turtles.

Science.gov (United States)

2010-10-01

... 50 Wildlife and Fisheries 9 2010-10-01 2010-10-01 false Interim protection for sea turtles. 660.720 Section 660.720 Wildlife and Fisheries FISHERY CONSERVATION AND MANAGEMENT, NATIONAL OCEANIC AND... Migratory Fisheries § 660.720 Interim protection for sea turtles. (a) Until the effective date of §§ 660.707...

Genetic and Non-genetic Factors Associated With Constipation in Cancer Patients Receiving Opioids.

Science.gov (United States)

Laugsand, Eivor A; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

2015-06-18

To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation and 75 single-nucleotide polymorphisms (SNPs) within 15 candidate genes related to opioid- or constipation-signaling pathways (HTR3E, HTR4, HTR2A, TPH1, ADRA2A, CHRM3, TACR1, CCKAR, KIT, ARRB2, GHRL, ABCB1, COMT, OPRM1, and OPRD1). The non-genetic factors significantly associated with constipation were type of laxative, mobility and place of care among patients receiving laxatives (N=806), in addition to Karnofsky performance status and presence of metastases among patients not receiving laxatives (N=762) (Pconstipation. Five SNPs, rs1800532 in TPH1, rs1799971 in OPRM1, rs4437575 in ABCB1, rs10802789 in CHRM3, and rs2020917 in COMT were associated with constipation (Phospitalization, Karnofsky performance status, presence of metastases, and five SNPs within TPH1, OPRM1, ABCB1, CHRM3, and COMT may contribute to the variability in constipation among cancer patients treated with opioids. Knowledge of these factors may help to develop new therapies and to identify patients needing a more individualized approach to treatment.

CMM Interim Check (U)

Energy Technology Data Exchange (ETDEWEB)

Montano, Joshua Daniel [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

2015-03-23

Coordinate Measuring Machines (CMM) are widely used in industry, throughout the Nuclear Weapons Complex and at Los Alamos National Laboratory (LANL) to verify part conformance to design definition. Calibration cycles for CMMs at LANL are predominantly one year in length. Unfortunately, several nonconformance reports have been generated to document the discovery of a certified machine found out of tolerance during a calibration closeout. In an effort to reduce risk to product quality two solutions were proposed – shorten the calibration cycle which could be costly, or perform an interim check to monitor the machine’s performance between cycles. The CMM interim check discussed makes use of Renishaw’s Machine Checking Gauge. This off-the-shelf product simulates a large sphere within a CMM’s measurement volume and allows for error estimation. Data was gathered, analyzed, and simulated from seven machines in seventeen different configurations to create statistical process control run charts for on-the-floor monitoring.

Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies

Directory of Open Access Journals (Sweden)

Qiong Yang

2012-01-01

Full Text Available Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical or different types of components (e.g., some are continuous and others are categorical. We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

Interim process report for the safety assessment SR-Can

International Nuclear Information System (INIS)

Sellin, Patrick

2004-08-01

This report is a documentation of buffer processes identified as relevant to the long-term safety of a KBS-3 repository. The report is part of the interim reporting of the safety assessment SR-Can, see further the Interim main report. The final SR-Can reporting will support SKB's application to build an Encapsulation plant for spent nuclear fuel and is to be produced in 2006. The purpose of this report is to document the scientific knowledge of the processes to a level required for an adequate treatment in the safety assessment. The documentation is thus from a scientific point of not exhaustive since such a treatment is neither necessary for the purposes of the safety assessment nor possible within the scope of an assessment. The purpose is further to determine the handling of each process in the safety assessment and to demonstrate how uncertainties are taken care of, given the suggested handling. The process documentation in the SR 97 version of the Process report is a starting point for this SR-Can interim version. As further described in the Interim main report, the list of relevant processes has been reviewed and slightly extended by comparison to other databases. Furthermore, the backfill has been included as a system part of its own, rather than being described together with the buffer as in SR 97. Apart from giving an interim account of the documentation and handling of buffer processes in SR-Can, this report is meant to serve as a template for the forthcoming documentation of processes occurring in other parts of the repository system. A complete list of processes can be found in the Interim FEP report for the safety assessment SR-Can. All material presented in this document is preliminary in nature and will possibly be updated as the SR-Can project progresses

Interim process report for the safety assessment SR-Can

Energy Technology Data Exchange (ETDEWEB)

Sellin, Patrick (ed.)

2004-08-01

This report is a documentation of buffer processes identified as relevant to the long-term safety of a KBS-3 repository. The report is part of the interim reporting of the safety assessment SR-Can, see further the Interim main report. The final SR-Can reporting will support SKB's application to build an Encapsulation plant for spent nuclear fuel and is to be produced in 2006. The purpose of this report is to document the scientific knowledge of the processes to a level required for an adequate treatment in the safety assessment. The documentation is thus from a scientific point of not exhaustive since such a treatment is neither necessary for the purposes of the safety assessment nor possible within the scope of an assessment. The purpose is further to determine the handling of each process in the safety assessment and to demonstrate how uncertainties are taken care of, given the suggested handling. The process documentation in the SR 97 version of the Process report is a starting point for this SR-Can interim version. As further described in the Interim main report, the list of relevant processes has been reviewed and slightly extended by comparison to other databases. Furthermore, the backfill has been included as a system part of its own, rather than being described together with the buffer as in SR 97. Apart from giving an interim account of the documentation and handling of buffer processes in SR-Can, this report is meant to serve as a template for the forthcoming documentation of processes occurring in other parts of the repository system. A complete list of processes can be found in the Interim FEP report for the safety assessment SR-Can. All material presented in this document is preliminary in nature and will possibly be updated as the SR-Can project progresses.

Interim Hanford Waste Management Technology Plan

International Nuclear Information System (INIS)

1985-09-01

The Interim Hanford Waste Management Technology Plan (HWMTP) is a companion document to the Interim Hanford Waste Management Plan (HWMP). A reference plan for management and disposal of all existing and certain projected future radioactive Hanford Site Defense Wastes (HSDW) is described and discussed in the HWMP. Implementation of the reference plan requires that various open technical issues be satisfactorily resolved. The principal purpose of the HWMTP is to present detailed descriptions of the technology which must be developed to close each of the technical issues associated with the reference plan identified in the HWMP. If alternative plans are followed, however, technology development efforts including costs and schedules must be changed accordingly. Technical issues addressed in the HWMTP and HWMP are those which relate to disposal of single-shell tank wastes, contaminated soil sites, solid waste burial sites, double-shell tank wastes, encapsulated 137 CsCl and 90 SrF 2 , stored and new solid transuranic (TRU) wastes, and miscellaneous wastes such as contaminated sodium metal. Among the high priority issues to be resolved are characterization of various wastes including early determination of the TRU content of future cladding removal wastes; completion of development of vitrification (Hanford Waste Vitrification Plant) and grout technology; control of subsidence in buried waste sites; and development of criteria and standards including performance assessments of systems proposed for disposal of HSDW. Estimates of the technology costs shown in this report are made on the basis that all identified tasks for all issues associated with the reference disposal plan must be performed. Elimination of, consolidation of, or reduction in the scope of individual tasks will, of course, be reflected in corresponding reduction of overall technology costs

Hanford low-level tank waste interim performance assessment

International Nuclear Information System (INIS)

Mann, F.M.

1997-01-01

The Hanford Low-Level Tank Waste Interim Performance Assessment examines the long-term environmental and human health effects associated with the disposal of the low-level fraction of the Hanford single and double-shell tank waste in the Hanford Site 200 East Area. This report was prepared as a good management practice to provide needed information about the relationship between the disposal system design and performance early in the disposal system project cycle. The calculations in this performance assessment show that the disposal of the low-level fraction can meet environmental and health performance objectives

Materials behavior in interim storage of spent fuel

International Nuclear Information System (INIS)

Johnson, A.B. Jr.; Bailey, W.J.; Gilbert, E.R.; Inman, S.C.

1982-01-01

Interim storage has emerged as the only current spent-fuel management method in the US and is essential in all countries with nuclear reactors. Materials behavior is a key aspect in licensing interim-storage facilities for several decades of spent-fuel storage. This paper reviews materials behavior in wet storage, which is licensed for light-water reactor (LWR) fuel, and dry storage, for which a licensing position for LWR fuel is developing

78 FR 49782 - Interim Staff Guidance on Changes During Construction

Science.gov (United States)

2013-08-15

... Construction AGENCY: Nuclear Regulatory Commission. ACTION: Draft interim staff guidance; request for comment... During Construction.'' This ISG provides guidance to the NRC staff on the Preliminary Amendment Request...-ISG-025 ``Interim Staff Guidance on Changes during Construction under 10 CFR Part 52'' is available...

Genetic diversity, population structure and marker trait associations ...

Indian Academy of Sciences (India)

Supplementary data: Genetic diversity, population structure and marker trait associations for seed quality traits in cotton (Gossypium hirsutum). Ashok Badigannavar and Gerald O. Myers. J. Genet. 94, 87–94. Table 1. List of cotton germplasm lines used in this study. Germplasm no. Cultivar. Region. Germplasm no. Cultivar.

Genetic Variations and their Association with Diseases among ...

African Journals Online (AJOL)

genetics plays in disease, death and infections. The mode of study involved a combination of a retrospective study and the analysis of genetic variation among Kenyan ethnic populations using ABO blood group system. The results showed that there was association between allele frequencies of ABO system and disease ...

Spent fuel interim management: 1995 update

International Nuclear Information System (INIS)

Anderson, C.K.

1995-01-01

The problems of interim away-from-reactor spent fuel storage and storage in spent fuel pools at the reactor site are discussed. An overview of the state-of-the-art in the USA, Europe, and Japan is presented. The technical facilities for away-from-reactor storage are briefly described, including wet storage pools, interactive concrete systems, metallic containers, and passive concrete systems. Reprocessing technologies are mostly at the design stage only. It is predicted that during the 20 years to come, about 50 000 tonnes of spent fuel will be stored at reactor sites regardless of the advance of spent fuel reprocessing or interim storage projects. (J.B.). 4 tabs., 2 figs

General certification procedure of enterprises and interim job enterprises

CERN Document Server

Int. At. Energy Agency, Wien

2002-01-01

This procedure defines the certification global process of enterprises employing workers of A or B category for nuclear facilities and interim job enterprises proposing workers of A or B category for nuclear facilities. This certification proves the enterprises ability to satisfy the specification ''E'' of the CEFRI and the interim job enterprises to satisfy the specification ''I'' of the CEFRI. (A.L.B.)

Multivariate Methods for Meta-Analysis of Genetic Association Studies.

Science.gov (United States)

Dimou, Niki L; Pantavou, Katerina G; Braliou, Georgia G; Bagos, Pantelis G

2018-01-01

Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a unified framework methods for multivariate meta-analysis of genetic association studies and genome-wide association studies. Starting with the statistical methods used for robust analysis and genetic model selection, we present in brief univariate methods for meta-analysis and we then scrutinize multivariate methodologies. Multivariate models of meta-analysis for a single gene-disease association studies, including models for haplotype association studies, multiple linked polymorphisms and multiple outcomes are discussed. The popular Mendelian randomization approach and special cases of meta-analysis addressing issues such as the assumption of the mode of inheritance, deviation from Hardy-Weinberg Equilibrium and gene-environment interactions are also presented. All available methods are enriched with practical applications and methodologies that could be developed in the future are discussed. Links for all available software implementing multivariate meta-analysis methods are also provided.

Success of Two-Stage Reimplantation in Patients Requiring an Interim Spacer Exchange.

Science.gov (United States)

George, Jaiben; Miller, Evan M; Curtis, Gannon L; Klika, Alison K; Barsoum, Wael K; Mont, Michael A; Higuera, Carlos A

2018-03-23

Some patients undergoing a 2-stage revision for a periprosthetic joint infection require a repeat spacer in the interim (removal of existing spacer with insertion of a new spacer or spacer exchange) due to persistent infection. The objectives of this study are to (1) determine the factors associated with patients who receive a repeat spacer and (2) compare the infection-free survival (overall and stratified by joint type) of reimplantation in patients who did or did not receive a repeat spacer. From 2001 to 2014, 347 hip or knee 2-stage revisions that finally underwent reimplantation and had a minimum 2-year follow-up were identified. An interim spacer exchange was performed in 59 (17%) patients (exchange cohort). Patient-related and organism-related factors were compared between the exchange and non-exchange cohorts. Kaplan-Meier survival curves were performed to assess the success (absence of signs of infection, reoperation for infection, periprosthetic joint infection-related mortality) of both cohorts. Patients in the exchange group had higher comorbidity score (P = .020), prolonged time to reimplantation (P exchange cohort, and 78% (knee 77%, hip 78%) in the non-exchange cohort (P = .020). Patients requiring an interim spacer exchange were found to have more comorbidities, prolonged treatment period, and were more likely to be infected with a resistant organism. About one-third of such patients became reinfected within 5 years compared to only one-fifth of the patients without an interim spacer exchange. Copyright © 2018 Elsevier Inc. All rights reserved.

ITER interim design report package and relevant documents

International Nuclear Information System (INIS)

1996-01-01

This publication documents the technical basis which underlay the Interim Design Report, Cost Review and Safety Analysis submitted to the ITER Councils (IC-8 and IC-9) Records of decisions and the ''ITER Interim Design Report Package''. This publication contains ITER Site Requirements and ITER Site Design Assumptions, TAC-8 Report, SRG Report, CP's Report on Tentative Sequence of Events and Parties' Views on the IDR Package and Parties' Technical Comments on the IDR Package. Figs, tabs

National NIF Diagnostic Program Interim Management Plan

International Nuclear Information System (INIS)

Warner, B

2002-01-01

, cost, and schedule. The NIF Director controls the NNDP Interim Management Plan. A Draft Program Execution Plan (PEP) for the National NIF Diagnostics Program has been also been prepared (NIF-0072083, Oct 2001, attached as Attachment 1) that describes the NNDP technical, cost, and schedule baselines, the method by which the NNDP will fund and monitor the work to be done by the participating laboratories; the process for controlling changes; and the associated reporting and review process. This plan is expected to be approved by the relevant stakeholders at the appropriate time; however, since October 2001, the NNDP has been operating according to the processes laid out in the draft PEP. Below is a summary of the most important aspects of the NNDP that are being applied during this interim period before approval of the full PEP

Tribal child welfare. Interim final rule.

Science.gov (United States)

2012-01-06

The Administration for Children and Families (ACF) is issuing this interim final rule to implement statutory provisions related to the Tribal title IV-E program. Effective October 1, 2009, section 479B(b) of the Social Security Act (the Act) authorizes direct Federal funding of Indian Tribes, Tribal organizations, and Tribal consortia that choose to operate a foster care, adoption assistance and, at Tribal option, a kinship guardianship assistance program under title IV-E of the Act. The Fostering Connections to Success and Increasing Adoptions Act of 2008 requires that ACF issue interim final regulations which address procedures to ensure that a transfer of responsibility for the placement and care of a child under a State title IV-E plan to a Tribal title IV-E plan occurs in a manner that does not affect the child's eligibility for title IV-E benefits or medical assistance under title XIX of the Act (Medicaid) and such services or payments; in-kind expenditures from third-party sources for the Tribal share of administration and training expenditures under title IV-E; and other provisions to carry out the Tribal-related amendments to title IV-E. This interim final rule includes these provisions and technical amendments necessary to implement a Tribal title IV-E program.

Genetic pleiotropy explains associations between musical auditory discrimination and intelligence.

Science.gov (United States)

Mosing, Miriam A; Pedersen, Nancy L; Madison, Guy; Ullén, Fredrik

2014-01-01

Musical aptitude is commonly measured using tasks that involve discrimination of different types of musical auditory stimuli. Performance on such different discrimination tasks correlates positively with each other and with intelligence. However, no study to date has explored these associations using a genetically informative sample to estimate underlying genetic and environmental influences. In the present study, a large sample of Swedish twins (N = 10,500) was used to investigate the genetic architecture of the associations between intelligence and performance on three musical auditory discrimination tasks (rhythm, melody and pitch). Phenotypic correlations between the tasks ranged between 0.23 and 0.42 (Pearson r values). Genetic modelling showed that the covariation between the variables could be explained by shared genetic influences. Neither shared, nor non-shared environment had a significant effect on the associations. Good fit was obtained with a two-factor model where one underlying shared genetic factor explained all the covariation between the musical discrimination tasks and IQ, and a second genetic factor explained variance exclusively shared among the discrimination tasks. The results suggest that positive correlations among musical aptitudes result from both genes with broad effects on cognition, and genes with potentially more specific influences on auditory functions.

Presidential Transition: The Experience of Two Community College Interim Presidents

Science.gov (United States)

Thompson, Matthew D.

2010-01-01

The purpose of this qualitative case study was to understand the experiences of two community college interim presidents, their characteristics, and how they led institutions following an abrupt presidential departure. There were two fundamental questions framing this research study, 1. How do two interim community college presidents lead…

30 CFR 827.13 - Coal preparation plants: Interim performance standards.

Science.gov (United States)

2010-07-01

... 30 Mineral Resources 3 2010-07-01 2010-07-01 false Coal preparation plants: Interim performance...-COAL PREPARATION PLANTS NOT LOCATED WITHIN THE PERMIT AREA OF A MINE § 827.13 Coal preparation plants: Interim performance standards. (a) Persons operating or who have operated coal preparation plants after...

Smoking and caffeine consumption: a genetic analysis of their association.

Science.gov (United States)

Treur, Jorien L; Taylor, Amy E; Ware, Jennifer J; Nivard, Michel G; Neale, Michael C; McMahon, George; Hottenga, Jouke-Jan; Baselmans, Bart M L; Boomsma, Dorret I; Munafò, Marcus R; Vink, Jacqueline M

2017-07-01

Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine. First, bivariate genetic models were applied to data of 10 368 twins from the Netherlands Twin Register in order to estimate genetic and environmental correlations between smoking and caffeine use. Second, from the summary statistics of meta-analyses of genome-wide association studies on smoking and caffeine, the genetic correlation was calculated by LD-score regression. Third, causal effects were tested using Mendelian randomization analysis in 6605 Netherlands Twin Register participants and 5714 women from the Avon Longitudinal Study of Parents and Children. Through twin modelling, a genetic correlation of r0.47 and an environmental correlation of r0.30 were estimated between current smoking (yes/no) and coffee use (high/low). Between current smoking and total caffeine use, this was r0.44 and r0.00, respectively. LD-score regression also indicated sizeable genetic correlations between smoking and coffee use (r0.44 between smoking heaviness and cups of coffee per day, r0.28 between smoking initiation and coffee use and r0.25 between smoking persistence and coffee use). Consistent with the relatively high genetic correlations and lower environmental correlations, Mendelian randomization provided no evidence for causal effects of smoking on caffeine or vice versa. Genetic factors thus explain most of the association between smoking and caffeine consumption. These findings suggest that quitting smoking may be more difficult for heavy caffeine consumers, given their genetic susceptibility. © 2016 The Authors.Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

Fast Flux Test Facility interim examination and maintenance cell: Past, present, and future

International Nuclear Information System (INIS)

Vincent, J.R.

1990-09-01

The Fast Flux Test Facility Interim Examination and Maintenance Cell was designed to perform interim examination and/or disassembly of experimental core components for final analysis elsewhere, as well as maintenance of sodium-wetted or neutron-activated internal reactor parts and plant support hardware. The Interim Examination and Maintenance Cell equipment developed and used for the first ten years of operation has been primarily devoted to the disassembly and examination of core component test assemblies. While no major reactor equipment has required remote repair or maintenance, the Interim Examina Examination and Maintenance Cell has served as the remote repair facility for its own in-cell equipment, and several innovative remote repairs have been accomplished. The Interim Examination and Maintenance Cell's demonstrated versatility has shown its capability to support a challenging future. 12 refs., 9 figs

Lessons for outsourcing and interim management relationships.

Science.gov (United States)

Macko, W; Kostyack, P T

1999-01-01

Few decisions can affect an organization more than the selection of an outsourcing or interim management partner. More and more health care organizations face such decisions in today's competitive market in order to face new business needs. Making these relationships successful can be important for health care organizations seeking competitive advantages or seeking immediately accessible management support. These relationships, however, require careful partner selection and development. Success in outsourcing and interim management relationships is contingent upon a thorough selection process, a strong contract that has clearly and explicitly detailed responsibilities and a culture-sensitive business rapport between the client and selected partner.

PROJECT W-551 INTERIM PRETREATMENT SYSTEM PRECONCEPTUAL CANDIDATE TECHNOLOGY DESCRIPTIONS

Energy Technology Data Exchange (ETDEWEB)

MAY TH

2008-08-12

The Office of River Protection (ORP) has authorized a study to recommend and select options for interim pretreatment of tank waste and support Waste Treatment Plant (WTP) low activity waste (LAW) operations prior to startup of all the WTP facilities. The Interim Pretreatment System (IPS) is to be a moderately sized system which separates entrained solids and 137Cs from tank waste for an interim time period while WTP high level waste vitrification and pretreatment facilities are completed. This study's objective is to prepare pre-conceptual technology descriptions that expand the technical detail for selected solid and cesium separation technologies. This revision includes information on additional feed tanks.

Do Interim Assessments Reduce the Race and SES Achievement Gaps?

Science.gov (United States)

Konstantopoulos, Spyros; Li, Wei; Miller, Shazia R.; van der Ploeg, Arie

2017-01-01

The authors examined differential effects of interim assessments on minority and low socioeconomic status students' achievement in Grades K-6. They conducted a large-scale cluster randomized experiment in 2009-2010 to evaluate the impact of Indiana's policy initiative introducing interim assessments statewide. The authors used 2-level models to…

Interim Report by Asia International Grid Connection Study Group

Science.gov (United States)

Omatsu, Ryo

2018-01-01

The Asia International Grid Connection Study Group Interim Report examines the feasibility of developing an international grid connection in Japan. The Group has investigated different cases of grid connections in Europe and conducted research on electricity markets in Northeast Asia, and identifies the barriers and challenges for developing an international grid network including Japan. This presentation introduces basic contents of the interim report by the Study Group.

Interim report on updated microarray probes for the LLNL Burkholderia pseudomallei SNP array

Energy Technology Data Exchange (ETDEWEB)

Gardner, S; Jaing, C

2012-03-27

The overall goal of this project is to forensically characterize 100 unknown Burkholderia isolates in the US-Australia collaboration. We will identify genome-wide single nucleotide polymorphisms (SNPs) from B. pseudomallei and near neighbor species including B. mallei, B. thailandensis and B. oklahomensis. We will design microarray probes to detect these SNP markers and analyze 100 Burkholderia genomic DNAs extracted from environmental, clinical and near neighbor isolates from Australian collaborators on the Burkholderia SNP microarray. We will analyze the microarray genotyping results to characterize the genetic diversity of these new isolates and triage the samples for whole genome sequencing. In this interim report, we described the SNP analysis and the microarray probe design for the Burkholderia SNP microarray.

The Interim Financial Reporting in the Spirit of the IAS 34 Norm

OpenAIRE

Ovidia Doinea

2008-01-01

The role of an interim financial reporting is to allow the information users to acknowledge the activity of an entity on period shorter than financial exercise from the perspective of the available profits and cash flows generated as well as from the point of view of its financial position and liquidity. The interim financial reporting includes a complete or condensed set of financial statements which target to update the last financial reporting, usually the annual report. The interim financ...

Transuranic waste storage and assay facility (TRUSAF) interim safety basis

International Nuclear Information System (INIS)

Gibson, K.D.

1995-09-01

The TRUSAF ISB is based upon current facility configuration and procedures. The purpose of the document is to provide the basis for interim operation or restrictions on interim operations and the authorization basis for the TRUSAF at the Hanford Site. The previous safety analysis document TRUSAF hazards Identification and Evaluation (WHC 1977) is superseded by this document

Genetic and Non-genetic Factors Associated With Constipation in Cancer Patients Receiving Opioids

Science.gov (United States)

Laugsand, Eivor A; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

2015-01-01

Objectives: To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Methods: Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation and 75 single-nucleotide polymorphisms (SNPs) within 15 candidate genes related to opioid- or constipation-signaling pathways (HTR3E, HTR4, HTR2A, TPH1, ADRA2A, CHRM3, TACR1, CCKAR, KIT, ARRB2, GHRL, ABCB1, COMT, OPRM1, and OPRD1). Results: The non-genetic factors significantly associated with constipation were type of laxative, mobility and place of care among patients receiving laxatives (N=806), in addition to Karnofsky performance status and presence of metastases among patients not receiving laxatives (N=762) (P<0.01). Age, gender, body mass index, cancer diagnosis, time on opioids, opioid dose, and type of opioid did not contribute to the inter-individual differences in constipation. Five SNPs, rs1800532 in TPH1, rs1799971 in OPRM1, rs4437575 in ABCB1, rs10802789 in CHRM3, and rs2020917 in COMT were associated with constipation (P<0.01). Only rs2020917 in COMT passed the Benjamini–Hochberg criterion for a 10% false discovery rate. Conclusions: Type of laxative, mobility, hospitalization, Karnofsky performance status, presence of metastases, and five SNPs within TPH1, OPRM1, ABCB1, CHRM3, and COMT may contribute to the variability in constipation among cancer patients treated with opioids. Knowledge of these factors may help to develop new therapies and to identify patients needing a more individualized approach to treatment. PMID:26087058

K basins interim remedial action health and safety plan

Energy Technology Data Exchange (ETDEWEB)

DAY, P.T.

1999-09-14

The K Basins Interim Remedial Action Health and Safety Plan addresses the requirements of the Comprehensive Environmental Response, Compensation and Liability Act (CERCLA), as they apply to the CERCLA work that will take place at the K East and K West Basins. The provisions of this plan become effective on the date the US Environmental Protection Agency issues the Record of Decision for the K Basins Interim Remedial Action, currently planned in late August 1999.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

Science.gov (United States)

Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

2017-01-01

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

Interim storage is not long-term disposal

International Nuclear Information System (INIS)

Vincenti, J.R.

1994-01-01

Starting in June 30, 1994 South Carolina enforced an embargo on regular shipments of low-level radioactive waste to the Barnwell repository. The failure of 31 states and their respective compacts to provide access to a long-term disposal facility as stipulated by the low-level radioactive Waste Policy Act of 1980 promotes waste disposal gridlock and anticipates another waste disposal crisis. This article discusses the problem using the following topics: Appalachian Compact Users of Radioactive Isotopes (ACURI) Association's interest; the problem of denial of access to Barnwell; pro and contra interim storage; vital services and benefits at risk; issues at the ACURI meeting; nobel Prize winners use radioactive materials; if perception is reality, politics is prevalent

Immobilized high-level waste interim storage alternatives generation and analysis and decision report

International Nuclear Information System (INIS)

CALMUS, R.B.

1999-01-01

This report presents a study of alternative system architectures to provide onsite interim storage for the immobilized high-level waste produced by the Tank Waste Remediation System (TWRS) privatization vendor. It examines the contract and program changes that have occurred and evaluates their impacts on the baseline immobilized high-level waste (IHLW) interim storage strategy. In addition, this report documents the recommended initial interim storage architecture and implementation path forward

[Hypothetical link between endometriosis and xenobiotics-associated genetically modified food].

Science.gov (United States)

Aris, A; Paris, K

2010-12-01

Endometriosis is an oestrogen-dependent inflammatory disease affecting 10 % of reproductive-aged women. Often accompanied by chronic pelvic pain and infertility, endometriosis rigorously interferes with women's quality of life. Although the pathophysiology of endometriosis remains unclear, a growing body of evidence points to the implication of environmental toxicants. Over the last decade, an increase in the incidence of endometriosis has been reported and coincides with the introduction of genetically modified foods in our diet. Even though assessments of genetically modified food risk have not indicated any hazard on human health, xenobiotics-associated genetically modified food, such as pesticides residues and xenoproteins, could be harmful in the long-term. The "low-dose hypothesis", accumulation and biotransformation of pesticides-associated genetically modified food and the multiplied toxicity of pesticides-formulation adjuvants support this hypothesis. This review summarizes toxic effects (in vitro and on animal models) of some xenobiotics-associated genetically modified food, such as glyphosate and Cry1Ab protein, and extrapolates on their potential role in the pathophysiology of endometriosis. Their roles as immune toxicants, pro-oxidants, endocrine disruptors and epigenetic modulators are discussed. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

In vitro evaluation of the marginal integrity of CAD/CAM interim crowns.

Science.gov (United States)

Kelvin Khng, Kwang Yong; Ettinger, Ronald L; Armstrong, Steven R; Lindquist, Terry; Gratton, David G; Qian, Fang

2016-05-01

The accuracy of interim crowns made with computer-aided design and computer-aided manufacturing (CAD/CAM) systems has not been well investigated. The purpose of this in vitro study was to evaluate the marginal integrity of interim crowns made by CAD/CAM compared with that of conventional polymethylmethacrylate (PMMA) crowns. A dentoform mandibular left second premolar was prepared for a ceramic crown and scanned for the fabrication of 60 stereolithical resin dies, half of which were scanned to fabricate 15 Telio CAD-CEREC and 15 Paradigm MZ100-E4D-E4D crowns. Fifteen Caulk and 15 Jet interim crowns were made on the remaining resin dies. All crowns were cemented with Tempgrip under a 17.8-N load, thermocycled for 1000 cycles, placed in 0.5% acid fuschin for 24 hours, and embedded in epoxy resin before sectioning from the mid-buccal to mid-lingual surface. The marginal discrepancy was measured using a traveling microscope, and dye penetration was measured as a percentage of the overall length under the crown. The mean vertical marginal discrepancy of the conventionally made interim crowns was greater than for the CAD/CAM crowns (P=.006), while no difference was found for the horizontal component (P=.276). The mean vertical marginal discrepancy at the facial surface of the Caulk crowns was significantly greater than that of the other 3 types of interim crowns (Pmargin, the mean horizontal component of the Telio crowns was significantly larger than that of the other 3 types, with no difference at the lingual margins (P=.150). The mean percentage dye penetration for the Paradigm MZ100-E4D crowns was significantly greater and for Jet crowns significantly smaller than for the other 3 crowns (Pmarginal discrepancies of the Jet interim crowns at the facial surface and with the horizontal marginal discrepancies of the Caulk interim crowns at the lingual surface (Pmarginal discrepancy was found with the interim crowns fabricated by CAD/CAM as compared with PMMA crowns

Project management plan for Reactor 105-C Interim Safe Storage project

International Nuclear Information System (INIS)

Plagge, H.A.

1996-09-01

Reactor 105-C (located on the Hanford Site in Richland, Washington) will be placed into an interim safe storage condition such that (1) interim inspection can be limited to a 5-year frequency; (2) containment ensures that releases to the environmental are not credible under design basis conditions; and (3) final safe storage configuration shall not preclude or significantly increase the cost for any decommissioning alternatives for the reactor assembly.This project management plan establishes plans, organizational responsibilities, control systems, and procedures for managing the execution of Reactor 105-C interim safe storage activities to meet programmatic requirements within authorized funding and approved schedules

SecureMA: protecting participant privacy in genetic association meta-analysis.

Science.gov (United States)

Xie, Wei; Kantarcioglu, Murat; Bush, William S; Crawford, Dana; Denny, Joshua C; Heatherly, Raymond; Malin, Bradley A

2014-12-01

Sharing genomic data is crucial to support scientific investigation such as genome-wide association studies. However, recent investigations suggest the privacy of the individual participants in these studies can be compromised, leading to serious concerns and consequences, such as overly restricted access to data. We introduce a novel cryptographic strategy to securely perform meta-analysis for genetic association studies in large consortia. Our methodology is useful for supporting joint studies among disparate data sites, where privacy or confidentiality is of concern. We validate our method using three multisite association studies. Our research shows that genetic associations can be analyzed efficiently and accurately across substudy sites, without leaking information on individual participants and site-level association summaries. Our software for secure meta-analysis of genetic association studies, SecureMA, is publicly available at http://github.com/XieConnect/SecureMA. Our customized secure computation framework is also publicly available at http://github.com/XieConnect/CircuitService. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Interim FDG-PET Scan in Hodgkin's Lymphoma: Hopes and Caveats

Directory of Open Access Journals (Sweden)

M. André

2011-01-01

Full Text Available FDG-PET has recently emerged as an important tool for the management of Hodgkins lymphoma. Although its use for initial staging and response evaluation at the end of treatment is well established, the place of interim PET for response assessment and subsequent treatment tailoring is still quite controversial. The use of interim PET after a few cycles of chemotherapy may allow treatment reduction for good responders, leading to lesser treatment toxicities as well as early treatment adaptation for bad responders with a potential higher chance for cure. Interpretation of interim PET is a rapidly moving field. Actually, visual interpretation is preferred over quantitative interpretation in this situation. The notion of minimal residual uptake emerged for faint persisting FDG uptake, but has evolved during the recent years. Guidelines using mediastinum and liver as references have been proposed at the expert meeting in Deauville 2009. Actually, several trials are ongoing both for localised and advanced disease to evaluate the FDG-PET potential for early treatment monitoring and tailoring. Until the results of these prospective randomized trials become available, treatment changes according to the interim PET results should remain inappropriate and limited to well-conducted clinical trials.

Molecular evaluation of genetic diversity and association studies in ...

Indian Academy of Sciences (India)

Molecular evaluation of genetic diversity and association studies in rice. (Oryza sativa L.) C. Vanniarajan, K. K. Vinod and Andy Pereira. J. Genet. 91, 9–19. Table 1. Chromosome-wise distribution of SSR alleles and their number (k), polymorphic information content (PIC) and allele discrimination index (Dm). Chromosome.

42 CFR 93.401 - Interaction with other offices and interim actions.

Science.gov (United States)

2010-10-01

... 42 Public Health 1 2010-10-01 2010-10-01 false Interaction with other offices and interim actions. 93.401 Section 93.401 Public Health PUBLIC HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES... Human Services General Information § 93.401 Interaction with other offices and interim actions. (a) ORI...

42 CFR 417.572 - Budget and enrollment forecast and interim reports.

Science.gov (United States)

2010-10-01

... 42 Public Health 3 2010-10-01 2010-10-01 false Budget and enrollment forecast and interim reports... PLANS, AND HEALTH CARE PREPAYMENT PLANS Medicare Payment: Cost Basis § 417.572 Budget and enrollment forecast and interim reports. (a) Annual submittal. The HMO or CMP must submit an annual operating budget...

Hierarchical linear modeling of longitudinal pedigree data for genetic association analysis

DEFF Research Database (Denmark)

Tan, Qihua; B Hjelmborg, Jacob V; Thomassen, Mads

2014-01-01

-effect models to explicitly model the genetic relationship. These have proved to be an efficient way of dealing with sample clustering in pedigree data. Although current algorithms implemented in popular statistical packages are useful for adjusting relatedness in the mixed modeling of genetic effects...... associated with blood pressure with estimated inflation factors of 0.99, suggesting that our modeling of random effects efficiently handles the genetic relatedness in pedigrees. Application to simulated data captures important variants specified in the simulation. Our results show that the method is useful......Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees, which could affect statistical assessment of the genetic effects. Approaches have been proposed to integrate kinship correlation into the mixed...

10 CFR 431.401 - Petitions for waiver, and applications for interim waiver, of test procedure.

Science.gov (United States)

2010-01-01

... Renewable Energy, U.S. Department of Energy. Each Application for Interim Waiver must reference the Petition... Renewable Energy. (e) Provisions specific to interim waivers—(1) Disposition of application. If... 10 Energy 3 2010-01-01 2010-01-01 false Petitions for waiver, and applications for interim waiver...

What Ideas Do Students Associate with "Biotechnology" and "Genetic Engineering"?

Science.gov (United States)

Hill, Ruaraidh; Stanisstreet, Martin; Boyes, Edward

2000-01-01

Explores the ideas that students aged 16-19 associate with the terms 'biotechnology' and 'genetic engineering'. Indicates that some students see biotechnology as risky whereas genetic engineering was described as ethically wrong. (Author/ASK)

Challenges in reproducibility of genetic association studies: lessons learned from the obesity field.

Science.gov (United States)

Li, A; Meyre, D

2013-04-01

A robust replication of initial genetic association findings has proved to be difficult in human complex diseases and more specifically in the obesity field. An obvious cause of non-replication in genetic association studies is the initial report of a false positive result, which can be explained by a non-heritable phenotype, insufficient sample size, improper correction for multiple testing, population stratification, technical biases, insufficient quality control or inappropriate statistical analyses. Replication may, however, be challenging even when the original study describes a true positive association. The reasons include underpowered replication samples, gene × gene, gene × environment interactions, genetic and phenotypic heterogeneity and subjective interpretation of data. In this review, we address classic pitfalls in genetic association studies and provide guidelines for proper discovery and replication genetic association studies with a specific focus on obesity.

Fit of interim crowns fabricated using photopolymer-jetting 3D printing.

Science.gov (United States)

Mai, Hang-Nga; Lee, Kyu-Bok; Lee, Du-Hyeong

2017-08-01

The fit of interim crowns fabricated using 3-dimensional (3D) printing is unknown. The purpose of this in vitro study was to evaluate the fit of interim crowns fabricated using photopolymer-jetting 3D printing and to compare it with that of milling and compression molding methods. Twelve study models were fabricated by making an impression of a metal master model of the mandibular first molar. On each study model, interim crowns (N=36) were fabricated using compression molding (molding group, n=12), milling (milling group, n=12), and 3D polymer-jetting methods. The crowns were prepared as follows: molding group, overimpression technique; milling group, a 5-axis dental milling machine; and polymer-jetting group using a 3D printer. The fit of interim crowns was evaluated in the proximal, marginal, internal axial, and internal occlusal regions by using the image-superimposition and silicone-replica techniques. The Mann-Whitney U test and Kruskal-Wallis tests were used to compare the results among groups (α=.05). Compared with the molding group, the milling and polymer-jetting groups showed more accurate results in the proximal and marginal regions (P3D printing significantly enhanced the fit of interim crowns, particularly in the occlusal region. Copyright © 2016 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Climate change : we are at risk : interim report

International Nuclear Information System (INIS)

Oliver, D.; Wiebe, J.

2003-06-01

Between November 2002 and May 2003 the Standing Senate Committee on Agriculture and Forestry travelled across Canada to hear the views of farmer organizations, rural associations, ecotourism groups and environmental organizations regarding concerns about climate change and the impact it may have on the agriculture and forestry sectors and rural communities. The Committee also examined potential adaptation strategies focusing on primary production, practices, technologies, ecosystems and other related areas. Farmers and forest operators are already facing changes in market conditions, domestic regulations, trade policies and technology. This interim report expressed the concerns of farmers and forest operators. It includes a review of the Saguenay flood of 1996, the Red River flood of 1997, the ice storm of 1998, and droughts since 1999. It also includes a discussion on climate change and its biophysical and economic effects on agriculture, forestry, water resources, rural communities, and Aboriginal communities. This interim report also briefly outlines the Kyoto Protocol, the emissions trading system, and the decarbonization of global energy systems. It emphasized the need for integrated research and government policies and programs that encourage adaptation to climate change. The final report will be released in October 2003 and will provide specific recommendations to ensure that Canada responds to the concerns of farmers and forest operators and to ensure continued prosperity in these sectors. refs., figs

Climate change : we are at risk : interim report

Energy Technology Data Exchange (ETDEWEB)

Oliver, D.; Wiebe, J.

2003-06-01

Between November 2002 and May 2003 the Standing Senate Committee on Agriculture and Forestry travelled across Canada to hear the views of farmer organizations, rural associations, ecotourism groups and environmental organizations regarding concerns about climate change and the impact it may have on the agriculture and forestry sectors and rural communities. The Committee also examined potential adaptation strategies focusing on primary production, practices, technologies, ecosystems and other related areas. Farmers and forest operators are already facing changes in market conditions, domestic regulations, trade policies and technology. This interim report expressed the concerns of farmers and forest operators. It includes a review of the Saguenay flood of 1996, the Red River flood of 1997, the ice storm of 1998, and droughts since 1999. It also includes a discussion on climate change and its biophysical and economic effects on agriculture, forestry, water resources, rural communities, and Aboriginal communities. This interim report also briefly outlines the Kyoto Protocol, the emissions trading system, and the decarbonization of global energy systems. It emphasized the need for integrated research and government policies and programs that encourage adaptation to climate change. The final report will be released in October 2003 and will provide specific recommendations to ensure that Canada responds to the concerns of farmers and forest operators and to ensure continued prosperity in these sectors. refs., figs.

Insight into the Genetic Components of Community Genetics: QTL Mapping of Insect Association in a Fast-Growing Forest Tree

NARCIS (Netherlands)

DeWoody, J.; Viger, M.; Lakatos, F.; Tuba, K.; Taylor, G.; Smulders, M.J.M.

2013-01-01

Identifying genetic sequences underlying insect associations on forest trees will improve the understanding of community genetics on a broad scale. We tested for genomic regions associated with insects in hybrid poplar using quantitative trait loci (QTL) analyses conducted on data from a common

AGR-1 Data Qualification Interim Report

International Nuclear Information System (INIS)

Abbott, Machael

2009-01-01

Projects for the very-high-temperature reactor (VHTR) program provide data in support of Nuclear Regulatory Commission licensing of the VHTR. Fuel and materials to be used in the reactor are tested and characterized to quantify performance in high temperature and high fluence environments. The VHTR Program has established the NGNP Data Management and Analysis System (NDMAS) to ensure that VHTR data are (1) qualified for use, (2) stored in a readily accessible electronic form, and (3) analyzed to extract useful results. This document focuses on the first NDMAS objective. It describes the data streams associated with the first Advanced Gas Reactor (AGR-1) experiment, the processing of these data within NDMAS, and reports the interim FY09 qualification status of the AGR-1 data to date. Data qualification activities within NDMAS for specific types of data are determined by the data qualification category, which is assigned by the data generator, and include: (1) capture testing, to confirm that the data stored within NDMAS are identical to the raw data supplied, (2) accuracy testing, to confirm that the data are an accurate representation of the system or object being measured, and (3) documentation that the data were collected under an NQA-1 or equivalent QA program. The interim qualification status of the following four data streams is reported in this document: (1) fuel fabrication data, (2) fuel irradiation data, (3) fission product monitoring system (FPMS) data, and (4) Advanced Test Reactor (ATR) operating conditions data. A final report giving the NDMAS qualification status of all AGR-1 data (including cycle 145A) is planned for February 2010

Safety evaluation of interim stabilization of non-stabilized single-shell watch list tanks

International Nuclear Information System (INIS)

Stahl, S.M.

1994-01-01

This report provides results of a review of recently completed safety analyses related to hazards associated with Interim Stabilization of Single analyses related to hazards included oh the Hanford Site Waste Tank-Watch Shell Tanks (SSTs) that are included on the Hanford List. The purpose of the review was to identify and summarize conclusions regarding the safety of interim stabilization of Watch List SSTs, and to highlight applicable limitations, restrictions, and controls. The scope of this review was restricted to SSTs identified List in the categories of flammable gas ferrocyanide, and organic salts. High heat tanks were not included in the scope. A Watch List tank is defined as an underground storage tank containing waste that requires special safety precautions because it may have a serious potential for release of high level radioactive waste because of uncontrolled increases in temperature or pressure. Special restrictions have been placed on these tanks

A Non-Traditional Interim Project.

Science.gov (United States)

Brown, Diane; Ward, Dorothy

1980-01-01

Describes a project initiated by the Foreign Language Department of Birmingham-Southern College for their Interim term and discusses an interdisciplinary course focusing on Medieval Europe. The course included presentations on German and French language and literature, as well as lectures on the arts, philosophy, and family life of the period.…

Novel genetic loci associated with hippocampal volume

OpenAIRE

Hibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivieres, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf

2017-01-01

International audience; The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal ...

Genetic and Environmental Associations Between Procrastination and Internalizing/Externalizing Psychopathology.

Science.gov (United States)

Gustavson, Daniel E; du Pont, Alta; Hatoum, Alexander S; Hyun Rhee, Soo; Kremen, William S; Hewitt, John K; Friedman, Naomi P

2017-09-01

Recent work on procrastination has begun to unravel the genetic and environmental correlates of this problematic behavior. However, little is known about how strongly procrastination is associated with internalizing and externalizing psychopathology, and the extent to which shared genetic/environmental factors or relevant personality constructs (e.g., fear of failure, impulsivity, and neuroticism) can inform the structure of these associations. The current study examined data from 764 young adult twins who completed questionnaires assessing procrastination and personality and structured interviews regarding psychopathology symptoms. Results indicated that procrastination was positively correlated with both internalizing and externalizing latent variables, and that these correlations were driven by shared genetic influences. Moreover, the association between procrastination and internalizing was accounted for by fear of failure and neuroticism, whereas the association between procrastination and externalizing was primarily explained by impulsivity. The role of procrastination in psychopathology is discussed using a framework that highlights common and broadband-specific variance.

Understanding Salesforce Behavior using Genetic Association Studies

NARCIS (Netherlands)

W.E. van den Berg (Wouter)

2014-01-01

markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of

MetaGenyo: a web tool for meta-analysis of genetic association studies.

Science.gov (United States)

Martorell-Marugan, Jordi; Toro-Dominguez, Daniel; Alarcon-Riquelme, Marta E; Carmona-Saez, Pedro

2017-12-16

Genetic association studies (GAS) aims to evaluate the association between genetic variants and phenotypes. In the last few years, the number of this type of study has increased exponentially, but the results are not always reproducible due to experimental designs, low sample sizes and other methodological errors. In this field, meta-analysis techniques are becoming very popular tools to combine results across studies to increase statistical power and to resolve discrepancies in genetic association studies. A meta-analysis summarizes research findings, increases statistical power and enables the identification of genuine associations between genotypes and phenotypes. Meta-analysis techniques are increasingly used in GAS, but it is also increasing the amount of published meta-analysis containing different errors. Although there are several software packages that implement meta-analysis, none of them are specifically designed for genetic association studies and in most cases their use requires advanced programming or scripting expertise. We have developed MetaGenyo, a web tool for meta-analysis in GAS. MetaGenyo implements a complete and comprehensive workflow that can be executed in an easy-to-use environment without programming knowledge. MetaGenyo has been developed to guide users through the main steps of a GAS meta-analysis, covering Hardy-Weinberg test, statistical association for different genetic models, analysis of heterogeneity, testing for publication bias, subgroup analysis and robustness testing of the results. MetaGenyo is a useful tool to conduct comprehensive genetic association meta-analysis. The application is freely available at http://bioinfo.genyo.es/metagenyo/ .

Genetic diversity of disease-associated loci in Turkish population.

Science.gov (United States)

Karaca, Sefayet; Cesuroglu, Tomris; Karaca, Mehmet; Erge, Sema; Polimanti, Renato

2015-04-01

Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-related traits of the Turkish population, we analyzed 34 genes associated with different health-related traits (for example, lipid metabolism, cardio-vascular diseases, hormone metabolism, cellular detoxification, aging and energy metabolism). We observed relevant differences between the Turkish population and populations with non-European ancestries (that is, Africa and East Asia) in some of the investigated genes (that is, AGT, APOE, CYP1B1, GNB3, IL10, IL6, LIPC and PON1). As most complex traits are highly polygenic, we developed polygenic scores associated with different health-related traits to explore the genetic diversity of the Turkish population with respect to other human groups. This approach showed significant differences between the Turkish population and populations with non-European ancestries, as well as between Turkish and Northern European individuals. This last finding is in agreement with the genetic structure of European and Middle East populations, and may also agree with epidemiological evidences about the health disparities of Turkish communities in Northern European countries.

Interim and final storage casks

International Nuclear Information System (INIS)

Stumpfrock, L.; Kockelmann, H.

2012-01-01

The disposal of radioactive waste is a huge social challenge in Germany and all over the world. As is well known the search for a site for a final repository for high-level waste in Germany is not complete. Therefore, interim storage facilities for radioactive waste were built at plant sites in Germany. The waste is stored in these storage facilities in appropriate storage and transport casks until the transport in a final repository can be carried out. Licensing of the storage and transport casks aimed for use in the public space is done according to the traffic laws and for handling in the storage facility according to nuclear law. Taking into account the activity of the waste to be stored, different containers are in use, so that experience is available from the licensing and operation in interim storage facilities. The large volume of radioactive waste to be disposed of after the shut-down of power generation in nuclear power stations makes it necessary for large quantities of licensed storage and transport casks to be provided soon.

Interim storage report

International Nuclear Information System (INIS)

Rawlins, J.K.

1998-02-01

High-level radioactive waste (HLW) stored at the Idaho Chemical Processing Plant (ICPP) in the form of calcine and liquid and liquid sodium-bearing waste (SBW) will be processed to provide a stable waste form and prepare the waste to be transported to a permanent repository. Because a permanent repository will not be available when the waste is processed, the waste must be stored at ICPP in an Interim Storage Facility (ISF). This report documents consideration of an ISF for each of the waste processing options under consideration

Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy.

Science.gov (United States)

Simpson, Siobhan; Dunning, Mark D; Brownlie, Serena; Patel, Janika; Godden, Megan; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

2016-01-01

Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy

Directory of Open Access Journals (Sweden)

Siobhan Simpson

2016-01-01

Full Text Available Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM, yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

Disease-Concordant Twins Empower Genetic Association Studies

DEFF Research Database (Denmark)

Tan, Qihua; Li, Weilong; Vandin, Fabio

2017-01-01

and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size...

ITER interim design report package documents

International Nuclear Information System (INIS)

1996-01-01

This publication contains the Excerpt from the ITER Council (IC-8), the ITER Interim Design Report, Cost Review and Safety Analysis, ITER Site Requirements and ITER Site Design Assumptions and the Excerpt from the ITER Council (IC-9). 8 figs, 2 tabs

Spent fuel interim storage

International Nuclear Information System (INIS)

Bilegan, Iosif C.

2003-01-01

The official inauguration of the spent fuel interim storage took place on Monday July 28, 2003 at Cernavoda NNP. The inaugural event was attended by local and central public authority representatives, a Canadian Government delegation as well as newsmen from local and central mass media and numerous specialists from Cernavoda NPP compound. Mr Andrei Grigorescu, State Secretary with the Economy and Commerce Ministry, underlined in his talk the importance of this objective for the continuous development of nuclear power in Romania as well as for Romania's complying with the EU practice in this field. Also the excellent collaboration between the Canadian contractor AECL and the Romanian partners Nuclear Montaj, CITON, UTI, General Concret in the accomplishment of this unit at the planned terms and costs. On behalf of Canadian delegation, spoke Minister Don Boudria. He underlined the importance which the Canadian Government affords to the cooperation with Romania aiming at specific objectives in the field of nuclear power such as the Cernavoda NPP Unit 2 and spent fuel interim storage. After traditional cutting of the inaugural ribbon by the two Ministers the festivities continued on the Cernavoda NPP Compound with undersigning the documents regarding the project completion and a press conference

A randomized controlled trial of interim methadone maintenance.

Science.gov (United States)

Schwartz, Robert P; Highfield, David A; Jaffe, Jerome H; Brady, Joseph V; Butler, Carol B; Rouse, Charles O; Callaman, Jason M; O'Grady, Kevin E; Battjes, Robert J

2006-01-01

Effective alternatives to long waiting lists for entry into methadone hydrochloride maintenance treatment are needed to reduce the complications of continuing heroin dependence and to increase methadone treatment entry. To compare the effectiveness of interim methadone maintenance with that of the usual waiting list condition in facilitating methadone treatment entry and reducing heroin and cocaine use and criminal behavior. Randomized, controlled, clinical trial using 2 conditions, with treatment assignment on a 3:2 basis to interim maintenance-waiting list control. A methadone treatment program in Baltimore. A total of 319 individuals meeting the criteria for current heroin dependence and methadone maintenance treatment. Participants were randomly assigned to either interim methadone maintenance, consisting of an individually determined methadone dose and emergency counseling only for up to 120 days, or referral to community-based methadone treatment programs. Entry into comprehensive methadone maintenance therapy at 4 months from baseline; self-reported days of heroin use, cocaine use, and criminal behavior; and number of urine drug test results positive for heroin and cocaine at the follow-up interview conducted at time of entry into comprehensive methadone treatment (or at 4 months from baseline for participants who did not enter regular treatment). Significantly more participants assigned to the interim methadone maintenance condition entered comprehensive methadone maintenance treatment by the 120th day from baseline (75.9%) than those assigned to the waiting list control condition (20.8%) (Pmethadone maintenance results in a substantial increase in the likelihood of entry into comprehensive treatment, and is an effective means of reducing heroin use and criminal behavior among opioid-dependent individuals awaiting entry into a comprehensive methadone treatment program.

Effectiveness of interim stage filter in the exhaust system of glove boxes

International Nuclear Information System (INIS)

Patre, D.K.; Vangara, H.; Thanamani, S.; Gopalakrishnan, R.K.; Mhatre, Amol M.

2018-01-01

All operations in radiochemical laboratories are carried out in containment systems like Glove boxes and Fume hoods. For controlling air contamination two separate air cleaning systems are incorporated. Laboratory has general ventilation system and glove boxes are provided with a negative pressure system (NPS). Glove box exhaust air is passed through three stage filtration systems: in situ, interim and final before discharging to the atmosphere. In addition to the individual HEPA filters of each glove box, there is an interim HEPA filter bank introduced at the laboratory end. This was introduced to reduce a load on main exhaust filter system. Finally the exhaust air is discharged through the final stage HEPA filter located in the filter house through the Stack. The interim HEPA filter bank provides additional protection for the release of particulate activity and reduces load on the final stage filters. In the present work efforts have been put to validate the interim stage filter, which has been introduced, to limit the environmental release

LANDFILL BIOREACTOR PERFORMANCE, SECOND INTERIM REPORT

Science.gov (United States)

A bioreactor landfill is a landfill that is operated in a manner that is expected to increase the rate and extent of waste decomposition, gas generation, and settlement compared to a traditional landfill. This Second Interim Report was prepared to provide an interpretation of fie...

DOE UST interim subsurface barrier technologies workshop

International Nuclear Information System (INIS)

1992-09-01

This document contains information which was presented at a workshop regarding interim subsurface barrier technologies that could be used for underground storage tanks, particularly the tank 241-C-106 at the Hanford Reservation

Genetics of Obesity Traits: A Bivariate Genome-Wide Association Analysis

DEFF Research Database (Denmark)

Wu, Yili; Duan, Haiping; Tian, Xiaocao

2018-01-01

Previous genome-wide association studies on anthropometric measurements have identified more than 100 related loci, but only a small portion of heritability in obesity was explained. Here we present a bivariate twin study to look for the genetic variants associated with body mass index and waist......-hip ratio, and to explore the obesity-related pathways in Northern Han Chinese. Cholesky decompositionmodel for 242monozygotic and 140 dizygotic twin pairs indicated a moderate genetic correlation (r = 0.53, 95%CI: 0.42–0.64) between body mass index and waist-hip ratio. Bivariate genome-wide association.......05. Expression quantitative trait loci analysis identified rs2242044 as a significant cis-eQTL in both the normal adipose-subcutaneous (P = 1.7 × 10−9) and adipose-visceral (P = 4.4 × 10−15) tissue. These findings may provide an important entry point to unravel genetic pleiotropy in obesity traits....

A conservative method of retaining an interim obturator for a total maxillectomy patient

Directory of Open Access Journals (Sweden)

Nirmal Famila Bettie

2017-01-01

Full Text Available Interim obturators are indicated during the postsurgical phases. It promotes surgical healing and serves as a temporary prosthesis to rehabilitate a patient with intra-oral surgical defect. Retention is gained by wiring, surgical suturing, and other noninvasive methods to enable functional rehabilitation and easy replacement with a permanent obturator. Interim obturators serve as an easy guide for replacing with definitive obturators by indicating prosthesis extensions and the required method of retention. A more conservative and noninvasive method of retaining an interim obturator for a maxillectomy patient is described in this case report.

A Conservative Method of Retaining an Interim Obturator for a Total Maxillectomy Patient.

Science.gov (United States)

Bettie, Nirmal Famila

2017-11-01

Interim obturators are indicated during the postsurgical phases. It promotes surgical healing and serves as a temporary prosthesis to rehabilitate a patient with intra-oral surgical defect. Retention is gained by wiring, surgical suturing, and other noninvasive methods to enable functional rehabilitation and easy replacement with a permanent obturator. Interim obturators serve as an easy guide for replacing with definitive obturators by indicating prosthesis extensions and the required method of retention. A more conservative and noninvasive method of retaining an interim obturator for a maxillectomy patient is described in this case report.

International validation study for interim PET in ABVD-treated, advanced-stage hodgkin lymphoma

DEFF Research Database (Denmark)

Biggi, Alberto; Gallamini, Andrea; Chauvie, Stephane

2013-01-01

At present, there are no standard criteria that have been validated for interim PET reporting in lymphoma. In 2009, an international workshop attended by hematologists and nuclear medicine experts in Deauville, France, proposed to develop simple and reproducible rules for interim PET reporting...... in lymphoma. Accordingly, an international validation study was undertaken with the primary aim of validating the prognostic role of interim PET using the Deauville 5-point score to evaluate images and with the secondary aim of measuring concordance rates among reviewers using the same 5-point score...

Advanced nuclear reactor public opinion project. Interim report

Energy Technology Data Exchange (ETDEWEB)

Benson, B.

1991-07-25

This Interim Report summarizes the findings of our first twenty in-depth interviews in the Advanced Nuclear Reactor Public Opinion Project. We interviewed 6 industry trade association officials, 3 industry attorneys, 6 environmentalists/nuclear critics, 3 state officials, and 3 independent analysts. In addition, we have had numerous shorter discussions with various individuals concerned about nuclear power. The report is organized into the four categories proposed at our April, 1991, Advisory Group meeting: safety, cost-benefit analysis, science education, and communications. Within each category, some change of focus from that of the Advisory Group has been required, to reflect the findings of our interviews. This report limits itself to describing our findings. An accompanying memo draws some tentative conclusions.

Signature of genetic associations in oral cancer.

Science.gov (United States)

Sharma, Vishwas; Nandan, Amrita; Sharma, Amitesh Kumar; Singh, Harpreet; Bharadwaj, Mausumi; Sinha, Dhirendra Narain; Mehrotra, Ravi

2017-10-01

Oral cancer etiology is complex and controlled by multi-factorial events including genetic events. Candidate gene studies, genome-wide association studies, and next-generation sequencing identified various chromosomal loci to be associated with oral cancer. There is no available review that could give us the comprehensive picture of genetic loci identified to be associated with oral cancer by candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based approaches. A systematic literature search was performed in the PubMed database to identify the loci associated with oral cancer by exclusive candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based study approaches. The information of loci associated with oral cancer is made online through the resource "ORNATE." Next, screening of the loci validated by candidate gene studies and next-generation sequencing approach or by two independent studies within candidate gene studies or next-generation sequencing approaches were performed. A total of 264 loci were identified to be associated with oral cancer by candidate gene studies, genome-wide association studies, and next-generation sequencing approaches. In total, 28 loci, that is, 14q32.33 (AKT1), 5q22.2 (APC), 11q22.3 (ATM), 2q33.1 (CASP8), 11q13.3 (CCND1), 16q22.1 (CDH1), 9p21.3 (CDKN2A), 1q31.1 (COX-2), 7p11.2 (EGFR), 22q13.2 (EP300), 4q35.2 (FAT1), 4q31.3 (FBXW7), 4p16.3 (FGFR3), 1p13.3 (GSTM1-GSTT1), 11q13.2 (GSTP1), 11p15.5 (H-RAS), 3p25.3 (hOGG1), 1q32.1 (IL-10), 4q13.3 (IL-8), 12p12.1 (KRAS), 12q15 (MDM2), 12q13.12 (MLL2), 9q34.3 (NOTCH1), 17p13.1 (p53), 3q26.32 (PIK3CA), 10q23.31 (PTEN), 13q14.2 (RB1), and 5q14.2 (XRCC4), were validated to be associated with oral cancer. "ORNATE" gives a snapshot of genetic loci associated with oral cancer. All 28 loci were validated to be linked to oral cancer for which further fine-mapping followed by gene-by-gene and gene

78 FR 41125 - Interim Enforcement Policy for Permanent Implant Brachytherapy Medical Event Reporting

Science.gov (United States)

2013-07-09

... NUCLEAR REGULATORY COMMISSION [NRC-2013-0114] Interim Enforcement Policy for Permanent Implant Brachytherapy Medical Event Reporting AGENCY: Nuclear Regulatory Commission. ACTION: Policy statement; revision. SUMMARY: The U.S. Nuclear Regulatory Commission (NRC) is issuing an interim Enforcement Policy that allows...

Predictive probability methods for interim monitoring in clinical trials with longitudinal outcomes.

Science.gov (United States)

Zhou, Ming; Tang, Qi; Lang, Lixin; Xing, Jun; Tatsuoka, Kay

2018-04-17

In clinical research and development, interim monitoring is critical for better decision-making and minimizing the risk of exposing patients to possible ineffective therapies. For interim futility or efficacy monitoring, predictive probability methods are widely adopted in practice. Those methods have been well studied for univariate variables. However, for longitudinal studies, predictive probability methods using univariate information from only completers may not be most efficient, and data from on-going subjects can be utilized to improve efficiency. On the other hand, leveraging information from on-going subjects could allow an interim analysis to be potentially conducted once a sufficient number of subjects reach an earlier time point. For longitudinal outcomes, we derive closed-form formulas for predictive probabilities, including Bayesian predictive probability, predictive power, and conditional power and also give closed-form solutions for predictive probability of success in a future trial and the predictive probability of success of the best dose. When predictive probabilities are used for interim monitoring, we study their distributions and discuss their analytical cutoff values or stopping boundaries that have desired operating characteristics. We show that predictive probabilities utilizing all longitudinal information are more efficient for interim monitoring than that using information from completers only. To illustrate their practical application for longitudinal data, we analyze 2 real data examples from clinical trials. Copyright © 2018 John Wiley & Sons, Ltd.

Pathways to deep decarbonization - Interim 2014 Report

International Nuclear Information System (INIS)

2014-01-01

The interim 2014 report by the Deep Decarbonization Pathways Project (DDPP), coordinated and published by IDDRI and the Sustainable Development Solutions Network (SDSN), presents preliminary findings of the pathways developed by the DDPP Country Research Teams with the objective of achieving emission reductions consistent with limiting global warming to less than 2 deg. C. The DDPP is a knowledge network comprising 15 Country Research Teams and several Partner Organizations who develop and share methods, assumptions, and findings related to deep decarbonization. Each DDPP Country Research Team has developed an illustrative road-map for the transition to a low-carbon economy, with the intent of taking into account national socio-economic conditions, development aspirations, infrastructure stocks, resource endowments, and other relevant factors. The interim 2014 report focuses on technically feasible pathways to deep decarbonization

33 CFR 385.38 - Interim goals.

Science.gov (United States)

2010-07-01

..., monitoring and assessment; (ii) Be provided to the independent scientific review panel established in.... The interim goals shall be developed through the use of appropriate models and tools and shall provide... to be required to meet long-term hydrological and ecological restoration goals, based on best...

Interim guidelines for protecting fire-fighting personnel from multiple hazards at nuclear plant sites

International Nuclear Information System (INIS)

Klein, A.R.; Bloom, C.W.

1989-07-01

This report provides interim guidelines for reducing the impact to fire fighting and other supporting emergency response personnel from the multiple hazards of radiation, heat stress, and trauma when fighting a fire in a United States commercial nuclear power plant. Interim guidelines are provided for fire brigade composition, training, equipment, procedures, strategies, heat stress and trauma. In addition, task definitions are provided to evaluate and further enhance the interim guidelines over the long term. 19 refs

Proposed plan for interim remedial measures at the 100-HR-1 Operable Unit, Hanford Site, Richland, Washington

International Nuclear Information System (INIS)

1995-01-01

This proposed plan identifies the preferred alternative for interim remedial measures for remedial action of radioactive liquid waste disposal sites at the 100-HR-1 Operable Unit, located at the Hanford Site. It also summarizes other remedial alternatives evaluated for interim remedial measures in this operable unit. The intent of interim remedial measures is to speed up actions to address contaminated areas that historically received radioactive liquid waste discharges that pose a potential threat to human health and the environment. This proposed plan is being issued by the Washington State Department of Ecology (Ecology), the lead regulatory agency; the US Environmental Protection Agency (EPA), the support regulatory agency; and the US Department of Energy (DOE), the responsible agency. Ecology, EPA, and DOE are issuing this proposed plan as part of their public participation responsibilities under Section 117(a) of the Comprehensive Environmental Response, Compensation and Liability Act (CERCLA), commonly known as the ''Superfund Program.'' The proposed plan is intended to be a fact sheet for public review that (1) briefly describes the remedial alternatives analyzed; (2) proposes a preferred alternative; (3) summarizes the information relied upon to recommend the preferred alternative; and (4) provides a basis for an interim action record of decision (ROD). The preferred alternative presented in this proposed plan is removal, treatment (as appropriate), and disposal of contaminated soil and associated structures. Treatment will be conducted if there is cost benefit

T-TY Tank Farm Interim Surface Barrier Demonstration - Vadose Zone Monitoring Plan

International Nuclear Information System (INIS)

Zhang, Z.F.; Strickland, Christopher E.; Field, Jim G.; Parker, Danny L.

2010-01-01

The Hanford Site has 149 underground single-shell tanks that store hazardous radioactive waste. Many of these tanks and their associated infrastructure (e.g., pipelines, diversion boxes) have leaked. Some of the leaked waste has entered the groundwater. The largest known leak occurred from the T-106 Tank of the 241-T Tank Farm in 1973. Five tanks are assumed to have leaked in the TY Farm. Many of the contaminants from those leaks still reside within the vadose zone within the T and TY Tank Farms. The Department of Energy's Office of River Protection seeks to minimize the movement of these contaminant plumes by placing interim barriers on the ground surface. Such barriers are expected to prevent infiltrating water from reaching the plumes and moving them further. The soil water regime is monitored to determine the effectiveness of the interim surface barriers. Soil-water content and water pressure are monitored using off-the-shelf equipment that can be installed by the hydraulic hammer technique. Four instrument nests were installed in the T Farm in fiscal year (FY) 2006 and FY2007; two nests were installed in the TY Farm in FY2010. Each instrument nest contains a neutron probe access tube, a capacitance probe, and four heat-dissipation units. A meteorological station has been installed at the north side of the fence of the T Farm. This document summarizes the monitoring methods, the instrument calibration and installation, and the vadose zone monitoring plan for interim barriers in T farm and TY Farm.

CRY2 genetic variants associate with dysthymia.

Directory of Open Access Journals (Sweden)

Leena Kovanen

Full Text Available People with mood disorders often have disruptions in their circadian rhythms. Recent molecular genetics has linked circadian clock genes to mood disorders. Our objective was to study two core circadian clock genes, CRY1 and CRY2 as well as TTC1 that interacts with CRY2, in relation to depressive and anxiety disorders. Of these three genes, 48 single-nucleotide polymorphisms (SNPs whose selection was based on the linkage disequilibrium and potential functionality were genotyped in 5910 individuals from a nationwide population-based sample. The diagnoses of major depressive disorder, dysthymia and anxiety disorders were assessed with a structured interview (M-CIDI. In addition, the participants filled in self-report questionnaires on depressive and anxiety symptoms. Logistic and linear regression models were used to analyze the associations of the SNPs with the phenotypes. Four CRY2 genetic variants (rs10838524, rs7121611, rs7945565, rs1401419 associated significantly with dysthymia (false discovery rate q<0.05. This finding together with earlier CRY2 associations with winter depression and with bipolar type 1 disorder supports the view that CRY2 gene has a role in mood disorders.

The association of XRCC3 Thr241Met genetic variant with risk of ...

African Journals Online (AJOL)

genetic variant could be potentially associated with the risk of prostate cancer. However ... Results: Overall, significant associations were detected in the heterozygote comparison genetic model. (CT versus (vs.) ..... Quantifying hetero- geneity in ...

Interim format and content for a physical security plan for nuclear power plants

International Nuclear Information System (INIS)

1977-02-01

The document serves as interim guidance to assist the licensee or applicant in the preparation of a physical security plan. It is to be used in conjunction with interim acceptance criteria for physical security programs, which will be distributed at a later date

ASPECTS CONCERNING INTERIM FINANCIAL REPORTING IN ROMANIA: STANDARDS AND REGULATIONS

Directory of Open Access Journals (Sweden)

Aristita Rotila

2014-12-01

Full Text Available The mechanisms employed for the communication of accounting information that is necessary for users in their economic decision-making process consist of the financial statements of an entity. All legal entities, no matter the domain of their activity, have the obligation to draw up annual financial statements for every completed financial year. For certain categories of entities, reporting obligations are also required for periods other than the annual reporting, throughout the financial year. It is the case of interim financial reporting. At the level of the international accounting framework, the aspects related to interim financial reporting are the subject of a separate standard, namely, IAS 34 Interim Financial Reporting. In Romania, the current system of accounting regulations concerning the annual financial statements comprises accounting regulations that comply with the European directives and which apply to the various categories of entities, on the one hand and, on the other, accounting regulations in line with the IFRS, which are applicable to other classes of entities from certain activity sectors. The accounting regulations that apply to each category refer to, among other things, the contents and the format of financial statements that have to be presented. Analysing the system of norms and regulations, this article identifies the requirements concerning interim financial reporting in Romania, with reference to the different types of entities.

19 CFR 354.8 - Interim sanctions.

Science.gov (United States)

2010-04-01

... reconsider imposition of interim sanctions on the basis of new and material evidence or other good cause... Secretary may petition a presiding official to impose such sanctions. (b) The presiding official may impose... person to return material previously provided by the Department and all other materials containing the...

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia-Associated Mutations From Background Genetic Noise

NARCIS (Netherlands)

Kapplinger, Jamie D.; Landstrom, Andrew P.; Salisbury, Benjamin A.; Callis, Thomas E.; Pollevick, Guido D.; Tester, David J.; Cox, Moniek G. P. J.; Bhuiyan, Zahir; Bikker, Hennie; Wiesfeld, Ans C. P.; Hauer, Richard N. W.; van Tintelen, J. Peter; Jongbloed, Jan D. H.; Calkins, Hugh; Judge, Daniel P.; Wilde, Arthur A. M.; Ackerman, Michael J.

2011-01-01

Objectives The aims of this study were to determine the spectrum and prevalence of "background genetic noise" in the arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) genetic test and to determine genetic associations that can guide the interpretation of a positive test result.

Compilation of interim technical research memoranda. Volume I

International Nuclear Information System (INIS)

Shanahan, W.R.

1984-04-01

Four interim technical research memoranda are presented that describe the results of numerical simulations designed to investigate the dynamics of energetic plasma beams propagating across magnetic fields

Evaluation of Hose in Hose Transfer Line Service Life for Hanfords Interim Stabilization Program

International Nuclear Information System (INIS)

TORRES, T.D.

2001-01-01

RPP-6153, Engineering Task Plan for Hose-in-Hose Transfer System for the Interim Stabilization Program (Torres, 2000a), defines the programmatic goals, functional requirements, and technical criteria for the development and subsequent installation of waste transfer line equipment to support Hanford's Interim Stabilization Program. RPP-6028, Specification for Hose in Hose Transfer Lines for Hanford's Interim Stabilization Program (Torres, 2000b), has been issued to define the specific requirements for the design, manufacture, and verification of transfer line assemblies for specific waste transfer applications associated with Interim Stabilization. Included in RPP-6028 are tables defining the chemical constituents of concern to which transfer lines will be exposed. Current Interim Stabilization Program planning forecasts that the at-grade transfer lines will be required to convey pumpable waste for as much as three years after commissioning, RPP-6028 Section 3.2.7. Performance Incentive Number ORP-05 requires that all the Single Shell Tanks be Interim Stabilized by September 30, 2003. The Tri-Party Agreement (TPA) milestone M-41-00, enforced by a federal consent decree, requires all the Single Shell Tanks to be Interim stabilized by September 30, 2004. By meeting the Performance Incentive the TPA milestone is met. Prudent engineering dictates that the equipment used to transfer waste have a life in excess of the forecasted operational time period, with some margin to allow for future adjustments to the planned schedule. This document evaluates the effective service life of the Hose-in-Hose Transfer Lines, based on information submitted by the manufacturer, published literature and calculations. The effective service life of transfer line assemblies is a function of several factors. Foremost among these are the hose material's resistance to the harmful effects of process fluid characteristics, ambient environmental conditions, exposure to ionizing radiation and the

Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.

Science.gov (United States)

Boueiz, Adel; Lutz, Sharon M; Cho, Michael H; Hersh, Craig P; Bowler, Russell P; Washko, George R; Halper-Stromberg, Eitan; Bakke, Per; Gulsvik, Amund; Laird, Nan M; Beaty, Terri H; Coxson, Harvey O; Crapo, James D; Silverman, Edwin K; Castaldi, Peter J; DeMeo, Dawn L

2017-03-15

Emphysema has considerable variability in the severity and distribution of parenchymal destruction throughout the lungs. Upper lobe-predominant emphysema has emerged as an important predictor of response to lung volume reduction surgery. Yet, aside from alpha-1 antitrypsin deficiency, the genetic determinants of emphysema distribution remain largely unknown. To identify the genetic influences of emphysema distribution in non-alpha-1 antitrypsin-deficient smokers. A total of 11,532 subjects with complete genotype and computed tomography densitometry data in the COPDGene (Genetic Epidemiology of Chronic Obstructive Pulmonary Disease [COPD]; non-Hispanic white and African American), ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints), and GenKOLS (Genetics of Chronic Obstructive Lung Disease) studies were analyzed. Two computed tomography scan emphysema distribution measures (difference between upper-third and lower-third emphysema; ratio of upper-third to lower-third emphysema) were tested for genetic associations in all study subjects. Separate analyses in each study population were followed by a fixed effect metaanalysis. Single-nucleotide polymorphism-, gene-, and pathway-based approaches were used. In silico functional evaluation was also performed. We identified five loci associated with emphysema distribution at genome-wide significance. These loci included two previously reported associations with COPD susceptibility (4q31 near HHIP and 15q25 near CHRNA5) and three new associations near SOWAHB, TRAPPC9, and KIAA1462. Gene set analysis and in silico functional evaluation revealed pathways and cell types that may potentially contribute to the pathogenesis of emphysema distribution. This multicohort genome-wide association study identified new genomic loci associated with differential emphysematous destruction throughout the lungs. These findings may point to new biologic pathways on which to expand diagnostic and therapeutic

Contribution of Large Region Joint Associations to Complex Traits Genetics

Science.gov (United States)

Paré, Guillaume; Asma, Senay; Deng, Wei Q.

2015-01-01

A polygenic model of inheritance, whereby hundreds or thousands of weakly associated variants contribute to a trait’s heritability, has been proposed to underlie the genetic architecture of complex traits. However, relatively few genetic variants have been positively identified so far and they collectively explain only a small fraction of the predicted heritability. We hypothesized that joint association of multiple weakly associated variants over large chromosomal regions contributes to complex traits variance. Confirmation of such regional associations can help identify new loci and lead to a better understanding of known ones. To test this hypothesis, we first characterized the ability of commonly used genetic association models to identify large region joint associations. Through theoretical derivation and simulation, we showed that multivariate linear models where multiple SNPs are included as independent predictors have the most favorable association profile. Based on these results, we tested for large region association with height in 3,740 European participants from the Health and Retirement Study (HRS) study. Adjusting for SNPs with known association with height, we demonstrated clustering of weak associations (p = 2x10-4) in regions extending up to 433.0 Kb from known height loci. The contribution of regional associations to phenotypic variance was estimated at 0.172 (95% CI 0.063-0.279; p < 0.001), which compared favorably to 0.129 explained by known height variants. Conversely, we showed that suggestively associated regions are enriched for known height loci. To extend our findings to other traits, we also tested BMI, HDLc and CRP for large region associations, with consistent results for CRP. Our results demonstrate the presence of large region joint associations and suggest these can be used to pinpoint weakly associated SNPs. PMID:25856144

Interim research assessment 2003-2005 - Computer Science

NARCIS (Netherlands)

Mouthaan, A.J.; Hartel, Pieter H.

This report primarily serves as a source of information for the 2007 Interim Research Assessment Committee for Computer Science at the three technical universities in the Netherlands. The report also provides information for others interested in our research activities.

An interim report on the State of Nevada socioeconomic studies

International Nuclear Information System (INIS)

1989-06-01

This Interim Report is a report on work in progress and presents findings from the research to date on the potential consequences of a repository for the citizens of Nevada. The research and findings in the Report have been subjected to rigorous peer review as part of the state's effort to insure independent, objective analysis that meets the highest professional standards. The basic research effort will continue through June 1990 and will enable the state to refine and clarify the findings presented in this Interim Report

Genetic Variants Associated with Circulating Parathyroid Hormone.

Science.gov (United States)

Robinson-Cohen, Cassianne; Lutsey, Pamela L; Kleber, Marcus E; Nielson, Carrie M; Mitchell, Braxton D; Bis, Joshua C; Eny, Karen M; Portas, Laura; Eriksson, Joel; Lorentzon, Mattias; Koller, Daniel L; Milaneschi, Yuri; Teumer, Alexander; Pilz, Stefan; Nethander, Maria; Selvin, Elizabeth; Tang, Weihong; Weng, Lu-Chen; Wong, Hoi Suen; Lai, Dongbing; Peacock, Munro; Hannemann, Anke; Völker, Uwe; Homuth, Georg; Nauk, Matthias; Murgia, Federico; Pattee, Jack W; Orwoll, Eric; Zmuda, Joseph M; Riancho, Jose Antonio; Wolf, Myles; Williams, Frances; Penninx, Brenda; Econs, Michael J; Ryan, Kathleen A; Ohlsson, Claes; Paterson, Andrew D; Psaty, Bruce M; Siscovick, David S; Rotter, Jerome I; Pirastu, Mario; Streeten, Elizabeth; März, Winfried; Fox, Caroline; Coresh, Josef; Wallaschofski, Henri; Pankow, James S; de Boer, Ian H; Kestenbaum, Bryan

2017-05-01

Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies ( n =22,653 and n =6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 ( P =4.2 × 10 -53 ), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 ( P =6.6 × 10 -17 ), rs219779 adjacent to CLDN14 ( P =3.5 × 10 -16 ), rs4443100 near RTDR1 ( P =8.7 × 10 -9 ), and rs73186030 near CASR ( P =4.8 × 10 -8 ). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued. Copyright © 2017 by the American Society of Nephrology.

SimHap GUI: an intuitive graphical user interface for genetic association analysis.

Science.gov (United States)

Carter, Kim W; McCaskie, Pamela A; Palmer, Lyle J

2008-12-25

Researchers wishing to conduct genetic association analysis involving single nucleotide polymorphisms (SNPs) or haplotypes are often confronted with the lack of user-friendly graphical analysis tools, requiring sophisticated statistical and informatics expertise to perform relatively straightforward tasks. Tools, such as the SimHap package for the R statistics language, provide the necessary statistical operations to conduct sophisticated genetic analysis, but lacks a graphical user interface that allows anyone but a professional statistician to effectively utilise the tool. We have developed SimHap GUI, a cross-platform integrated graphical analysis tool for conducting epidemiological, single SNP and haplotype-based association analysis. SimHap GUI features a novel workflow interface that guides the user through each logical step of the analysis process, making it accessible to both novice and advanced users. This tool provides a seamless interface to the SimHap R package, while providing enhanced functionality such as sophisticated data checking, automated data conversion, and real-time estimations of haplotype simulation progress. SimHap GUI provides a novel, easy-to-use, cross-platform solution for conducting a range of genetic and non-genetic association analyses. This provides a free alternative to commercial statistics packages that is specifically designed for genetic association analysis.

75 FR 984 - Draft Recommended Interim Preliminary Remediation Goals for Dioxin in Soil at CERCLA and RCRA Sites

Science.gov (United States)

2010-01-07

...The Environmental Protection Agency (EPA or the Agency) is announcing a 50-day public comment period for draft recommended interim preliminary remediation goals (PRGs) developed in the Draft Recommended Interim Preliminary Remediation Goals for Dioxin in Soil at Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA) and Resource Conservation and Recovery Act (RCRA) Sites. EPA's Office of Solid Waste and Emergency and Emergency Response (OSWER) has developed the draft recommended interim PRGs for dioxin in soil. These draft recommended interim PRGs were calculated using existing, peer- reviewed toxicity values and current EPA equations and default exposure assumptions. This Federal Register notice is intended to provide an opportunity for public comment on the draft recommended interim PRGs. EPA will consider any public comments submitted in accordance with this notice and may revise the draft recommended interim PRGs thereafter.

'Smoking genes': a genetic association study.

Directory of Open Access Journals (Sweden)

Zoraida Verde

Full Text Available Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A [rs1801272], CYP2A6*9 (-48T>G [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T [rs8192789], CYP2A13*3 (7520C>G, CYP2A13*4 (579G>A, CYP2A13*7 (578C>T [rs72552266], CYP2B6*4 (785A>G, CYP2B6*9 (516G>T, CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126 and ethnically matched never smokers (controls, N = 80. The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A polymorphisms was 3.60 (95%CI: 1.75, 7.44 and 2.63 (95%CI: 1.41, 4.89 respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65. We found a significant genotype effect (all P≤0.017 for the following smoking-related phenotypes: (i cigarettes smoked per day and CYP2A13*3; (ii pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A; (iii nicotine dependence (assessed with the Fagestrom test and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5, serotoninergic (HTR2A, opioid (OPRM1 or cannabinoid receptors (CNR1.

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.

Science.gov (United States)

Kasperaviciūte, Dalia; Catarino, Claudia B; Heinzen, Erin L; Depondt, Chantal; Cavalleri, Gianpiero L; Caboclo, Luis O; Tate, Sarah K; Jamnadas-Khoda, Jenny; Chinthapalli, Krishna; Clayton, Lisa M S; Shianna, Kevin V; Radtke, Rodney A; Mikati, Mohamad A; Gallentine, William B; Husain, Aatif M; Alhusaini, Saud; Leppert, David; Middleton, Lefkos T; Gibson, Rachel A; Johnson, Michael R; Matthews, Paul M; Hosford, David; Heuser, Kjell; Amos, Leslie; Ortega, Marcos; Zumsteg, Dominik; Wieser, Heinz-Gregor; Steinhoff, Bernhard J; Krämer, Günter; Hansen, Jörg; Dorn, Thomas; Kantanen, Anne-Mari; Gjerstad, Leif; Peuralinna, Terhi; Hernandez, Dena G; Eriksson, Kai J; Kälviäinen, Reetta K; Doherty, Colin P; Wood, Nicholas W; Pandolfo, Massimo; Duncan, John S; Sander, Josemir W; Delanty, Norman; Goldstein, David B; Sisodiya, Sanjay M

2010-07-01

Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio<1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies.

Two-level mixed modeling of longitudinal pedigree data for genetic association analysis

DEFF Research Database (Denmark)

Tan, Q.

2013-01-01

of follow-up. Approaches have been proposed to integrate kinship correlation into the mixed effect models to explicitly model the genetic relationship which have been proven as an efficient way for dealing with sample clustering in pedigree data. Although useful for adjusting relatedness in the mixed...... assess the genetic associations with the mean level and the rate of change in a phenotype both with kinship correlation integrated in the mixed effect models. We apply our method to longitudinal pedigree data to estimate the genetic effects on systolic blood pressure measured over time in large pedigrees......Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees which could affect statistical assessment of the genetic effects on both the mean level of the phenotype and its rate of change over the time...

Plutonium Finishing Plant. Interim plutonium stabilization engineering study

Energy Technology Data Exchange (ETDEWEB)

Sevigny, G.J.; Gallucci, R.H.; Garrett, S.M.K.; Geeting, J.G.H.; Goheen, R.S.; Molton, P.M.; Templeton, K.J.; Villegas, A.J. [Pacific Northwest Lab., Richland, WA (United States); Nass, R. [Nuclear Fuel Services, Inc. (United States)

1995-08-01

This report provides the results of an engineering study that evaluated the available technologies for stabilizing the plutonium stored at the Plutonium Finishing Plant located at the hanford Site in southeastern Washington. Further processing of the plutonium may be required to prepare the plutonium for interim (<50 years) storage. Specifically this document provides the current plutonium inventory and characterization, the initial screening process, and the process descriptions and flowsheets of the technologies that passed the initial screening. The conclusions and recommendations also are provided. The information contained in this report will be used to assist in the preparation of the environmental impact statement and to help decision makers determine which is the preferred technology to process the plutonium for interim storage.

Plutonium Finishing Plant. Interim plutonium stabilization engineering study

International Nuclear Information System (INIS)

Sevigny, G.J.; Gallucci, R.H.; Garrett, S.M.K.; Geeting, J.G.H.; Goheen, R.S.; Molton, P.M.; Templeton, K.J.; Villegas, A.J.; Nass, R.

1995-08-01

This report provides the results of an engineering study that evaluated the available technologies for stabilizing the plutonium stored at the Plutonium Finishing Plant located at the hanford Site in southeastern Washington. Further processing of the plutonium may be required to prepare the plutonium for interim (<50 years) storage. Specifically this document provides the current plutonium inventory and characterization, the initial screening process, and the process descriptions and flowsheets of the technologies that passed the initial screening. The conclusions and recommendations also are provided. The information contained in this report will be used to assist in the preparation of the environmental impact statement and to help decision makers determine which is the preferred technology to process the plutonium for interim storage

DATA MINING METHODOLOGY FOR DETERMINING THE OPTIMAL MODEL OF COST PREDICTION IN SHIP INTERIM PRODUCT ASSEMBLY

Directory of Open Access Journals (Sweden)

Damir Kolich

2016-03-01

Full Text Available In order to accurately predict costs of the thousands of interim products that are assembled in shipyards, it is necessary to use skilled engineers to develop detailed Gantt charts for each interim product separately which takes many hours. It is helpful to develop a prediction tool to estimate the cost of interim products accurately and quickly without the need for skilled engineers. This will drive down shipyard costs and improve competitiveness. Data mining is used extensively for developing prediction models in other industries. Since ships consist of thousands of interim products, it is logical to develop a data mining methodology for a shipyard or any other manufacturing industry where interim products are produced. The methodology involves analysis of existing interim products and data collection. Pre-processing and principal component analysis is done to make the data “user-friendly” for later prediction processing and the development of both accurate and robust models. The support vector machine is demonstrated as the better model when there are a lower number of tuples. However as the number of tuples is increased to over 10000, then the artificial neural network model is recommended.

Genetically distinct subsets within ANCA-associated vasculitis.

LENUS (Irish Health Repository)

Lyons, Paul A

2012-07-19

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a severe condition encompassing two major syndromes: granulomatosis with polyangiitis (formerly known as Wegener\\'s granulomatosis) and microscopic polyangiitis. Its cause is unknown, and there is debate about whether it is a single disease entity and what role ANCA plays in its pathogenesis. We investigated its genetic basis.

18 CFR 300.20 - Interim acceptance and review of Bonneville Power Administration rates.

Science.gov (United States)

2010-04-01

... 18 Conservation of Power and Water Resources 1 2010-04-01 2010-04-01 false Interim acceptance and review of Bonneville Power Administration rates. 300.20 Section 300.20 Conservation of Power and Water... Director of the Office of Energy Market Regulation; or (ii) Deny the Administrator's interim rate request...

Fuel Supply Shutdown Facility Interim Operational Safety Requirements

International Nuclear Information System (INIS)

BENECKE, M.W.

2000-01-01

The Interim Operational Safety Requirements for the Fuel Supply Shutdown (FSS) Facility define acceptable conditions, safe boundaries, bases thereof, and management of administrative controls to ensure safe operation of the facility

Subsurface Interim Measures/Interim Remedial Action Plan and Decision Document for the 903 Pad, Mound, and East Trenches Areas (Operable Unit No. 2)

International Nuclear Information System (INIS)

1992-01-01

The Department of Energy (DOE) is pursuing an Interim Measure/Interim Remedial Action (IM/IRA) at the 903 Pad, Mound, and East Trenches Areas (Operable Unit No. 2) at the Rocky Flats Plant (RFP). This MIRA is to be conducted to provide information that will aid in the selection and design of final remedial actions at OU2 that will address removal of suspected free-phase volatile organic compound (VOC) contamination. The Plan involves investigating the removal of residual free-phase VOCs by in situ vacuum-enhanced vapor extraction technology at 3 suspected VOC source areas within OU2. VOC-contaminated vapors extracted from the subsurface would be treated by granular activated carbon (GAC) adsorption and discharged. The Plan also includes water table depression, when applicable at the test sites, to investigate the performance of vapor extraction technology in the saturated zone. The Plan provides for treatment of any contaminated ground water recovered during the IM/IRA at existing RFP treatment facilities. The proposed MVIRA Plan is presented in the document entitled ''Proposed Subsurface Interim Measures/Interim Remedial Action Plan/Environmental Assessment and Decision Document, 903 Pad, Mound, and East Trenches Areas, Operable Unit No. 2, '' dated 20 March 1992. Information concerning the proposed Subsurface IM/IRA was presented during a DOE Quarterly Review meeting held on 07 April 1992 and a public meeting held on 07 May 1992, at the Marriott Hotel in Golden, Colorado. The Responsiveness Summary presents DOE's response to all comments received at the public meeting, as well as those mailed to date to DOE during the public comment period

Used Fuel Logistics: Decades of Experience with transportation and Interim storage solutions

Energy Technology Data Exchange (ETDEWEB)

Orban, G.; Shelton, C.

2015-07-01

Used fuel inventories are growing worldwide. While some countries have opted for a closed cycle with recycling, numerous countries must expand their interim storage solutions as implementation of permanent repositories is taking more time than foreseen. In both cases transportation capabilities will have to be developed. AREVA TN has an unparalleled expertise with transportation of used fuel. For more than 50 years AREVA TN has safely shipped more than 7,000 used fuel transport casks. The transportation model that was initially developed in the 1970s has been adapted and enhanced over the years to meet more restrictive regulatory requirements and evolving customer needs, and to address public concerns. The numerous “lessons learned” have offered data and guidance that have allowed for also efficient and consistent improvement over the decades. AREVA TN has also an extensive experience with interim dry storage solutions in many countries on-site but also is working with partners to developed consolidated interim storage facility. Both expertise with storage and transportation contribute to safe, secure and smooth continuity of the operations. This paper will describe decades of experience with a very successful transportation program as well as interim storage solutions. (Author)

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Science.gov (United States)

Adams, Hieab HH; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura ME; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher RK; Cuellar-Partida, Gabriel; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David CM; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Olde Loohuis, Loes M; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein MJ; Van Eijk, Kristel R; Van Erp, Theo GM; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco JC; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald HH; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, WT; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda WJH; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schofield, Peter R; Sigurdsson, Sigurdur; Simmons, Andy; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Srikanth, Velandai; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Tiemeier, Henning; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Tzourio, Christophe; Uitterlinden, Andre G; Valdés Hernández, Maria C; Van der Brug, Marcel; Van der Lugt, Aad; Van der Wee, Nic JA; Van Duijn, Cornelia M; Van Haren, Neeltje EM; Van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Veltman, Dick J; Vernooij, Meike W; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, H Ronald; Zonderman, Alan B; Deary, Ian J; DeCarli, Charles; Schmidt, Helena; Martin, Nicholas G; De Craen, Anton JM; Wright, Margaret J; Launer, Lenore J; Schumann, Gunter; Fornage, Myriam; Franke, Barbara; Debette, Stéphanie; Medland, Sarah E; Ikram, M Arfan; Thompson, Paul M

2016-01-01

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth. PMID:27694991

On-site interim storage of spent nuclear fuel: Emerging public issues

International Nuclear Information System (INIS)

Feldman, D.L.; Tennessee Univ., Knoxville, TN

1992-01-01

Failure to consummate plans for a permanent repository or above- ground interim Monitored Retrievable Storage (MRS) facility for spent nuclear fuel has spurred innovative efforts to ensure at-reactor storage in an environmentally safe and secure manner. This article examines the institutional and socioeconomic impacts of Dry Cask Storage Technology (DCST)-an approach to spent fuel management that is emerging as the preferred method of on-site interim spent fuel storage by utilities that exhaust existing storage capacity

Phenotypic and genetic associations between reading and attention-deficit/hyperactivity disorder dimensions in adolescence.

Science.gov (United States)

Plourde, Vickie; Boivin, Michel; Brendgen, Mara; Vitaro, Frank; Dionne, Ginette

2017-10-01

Multiple studies have shown that reading abilities and attention-deficit/hyperactivity disorder symptoms, mainly inattention symptoms, are phenotypically and genetically associated during childhood. However, few studies have looked at these associations during adolescence to investigate possible developmental changes. The aim of the study is to examine the genetic and environmental etiology of the associations between inattention and hyperactivity reported by parents, and reading accuracy, reading speed, and word reading in a population-based twin sample (Quebec Newborn Twin Study). Participants were between 14 and 15 years of age at the time of testing (N = 668-837). Phenotypic results showed that when nonverbal and verbal abilities were controlled, inattention, but not hyperactivity/impulsivity, was a modest and significant predictor of reading accuracy, reading speed, and word reading. The associations between inattention and all reading abilities were partly explained by genetic and unique environmental factors. However, the genetic correlations were no longer significant after controlling for verbal abilities. In midadolescence, inattention is the attention-deficit/hyperactivity disorder dimension associated with reading abilities, but they could also share genetic factors with general verbal skills.

Transitioning aluminum clad spent fuels from wet to interim dry storage

International Nuclear Information System (INIS)

Louthan, M.R. Jr.; Iyer, N.C.; Sindelar, R.L.; Peacock, H.B. Jr.

1994-01-01

The United States Department of Energy (DOE) currently owns several hundred metric tons of aluminum clad, spent nuclear fuel and target assemblies. The vast majority of these irradiated assemblies are currently stored in water basins that were designed and operated for short term fuel cooling prior to fuel reprocessing. Recent DOE decisions to severely limit the reprocessing option have significantly lengthened the time of storage, thus increasing the tendency for corrosion induced degradation of the fuel cladding and the underlying core material. The portent of continued corrosion, coupled with the age of existing wet storage facilities and the cost of continuing basin operations, including necessary upgrades to meet current facility standards, may force the DOE to transition these wet stored, aluminum clad spent fuels to interim dry storage. The facilities for interim dry storage have not been developed, partially because fuel storage requirements and specifications for acceptable fuel forms are lacking. In spite of the lack of both facilities and specifications, current plans are to dry store fuels for approximately 40 to 60 years or until firm decisions are developed for final fuel disposition. The transition of the aluminum clad fuels from wet to interim dry storage will require a sequence of drying and canning operations which will include selected fuel preparations such as vacuum drying and conditioning of the storage atmosphere. Laboratory experiments and review of the available literature have demonstrated that successful interim dry storage may also require the use of fuel and canister cleaning or rinsing techniques that preclude, or at least minimize, the potential for the accumulation of chloride and other potentially deleterious ions in the dry storage environment. This paper summarizes an evaluation of the impact of fuel transitioning techniques on the potential for corrosion induced degradation of fuel forms during interim dry storage

Smoking and caffeine consumption: a genetic analysis of their association

NARCIS (Netherlands)

Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.; Vink, J.M.

2017-01-01

Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

Administrative Court Stade, decision of March 22, 1985 (interim storage facility at Gorleben)

International Nuclear Information System (INIS)

Anon.

1985-01-01

This decision deals with the planned interim storage facility of Gorleben (F.R.G.). The provisions introduced by the 4th ammendment to sec. 5 para. 6 and 9a to 9c of the German Atomic Energy Act might contain a definite regulation of the 'Entsorgung' of nuclear power stations. Sec. 6 of the Atomic Energy Act is not applicable to interim storage facilities because irradiated nuclear fuel has a double nature: It is spent fuel and nuclear waste as well. Considering current licensing procedures of construction and operation of nuclear installations in the field of 'Entsorgung', special legal regulations for the construction and operation of an interim storage facility have to be required. (CW)

Interim storage study report

Energy Technology Data Exchange (ETDEWEB)

Rawlins, J.K.

1998-02-01

High-level radioactive waste (HLW) stored at the Idaho Chemical Processing Plant (ICPP) in the form of calcine and liquid and liquid sodium-bearing waste (SBW) will be processed to provide a stable waste form and prepare the waste to be transported to a permanent repository. Because a permanent repository will not be available when the waste is processed, the waste must be stored at ICPP in an Interim Storage Facility (ISF). This report documents consideration of an ISF for each of the waste processing options under consideration.

Replication of genetic associations as pseudoreplication due to shared genealogy.

Science.gov (United States)

Rosenberg, Noah A; Vanliere, Jenna M

2009-09-01

The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate studies that search for genotype-phenotype associations using linkage disequilibrium between marker loci and disease-susceptibility loci can be considered as "pseudoreplicates" rather than true replicates. We examine the size of the pseudoreplication effect in association studies simulated from evolutionary models of the history of a population, evaluating the excess probability that both of a pair of studies detect a disease association compared to the probability expected under the assumption that the two studies are independent. Each of nine combinations of a demographic model and a penetrance model leads to a detectable pseudoreplication effect, suggesting that the degree of support that can be attributed to a replicated genetic association result is less than that which can be attributed to a replicated result in a context of true independence.

Conceptual design report for immobilized high-level waste interim storage facility (Phase 1)

International Nuclear Information System (INIS)

Burgard, K.C.

1998-01-01

The Hanford Site Canister Storage Building (CSB Bldg. 212H) will be utilized to interim store Phase 1 HLW products. Project W-464, Immobilized High-Level Waste Interim Storage, will procure an onsite transportation system and retrofit the CSB to accommodate the Phase 1 HLW products. The Conceptual Design Report establishes the Project W-464 technical and cost basis

Conceptual design report for immobilized high-level waste interim storage facility (Phase 1)

Energy Technology Data Exchange (ETDEWEB)

Burgard, K.C.

1998-04-09

The Hanford Site Canister Storage Building (CSB Bldg. 212H) will be utilized to interim store Phase 1 HLW products. Project W-464, Immobilized High-Level Waste Interim Storage, will procure an onsite transportation system and retrofit the CSB to accommodate the Phase 1 HLW products. The Conceptual Design Report establishes the Project W-464 technical and cost basis.

Agenda 21 interim balance, 1997

Energy Technology Data Exchange (ETDEWEB)

Van Vuuren, D.P.; Bakkes, J.A.

1997-10-01

Five years after the `United Nations Conference on Environment and Development (UNCED)`, an interim balance was drawn up to see what was done to meet the ambitious challenges adopted in Agenda 21 during this conference. Such a balance is presented in this report and the complementary brochure, `Developments in Sustainability 1992-1997`, reflecting societal developments and changes in environmental quality, as well as changes in responses to environmental concerns. 24 figs., 12 tabs., 68 refs.

T Tank Farm Interim Surface Barrier Demonstration--Vadose Zone Monitoring Plan

International Nuclear Information System (INIS)

Zhang, Z. F.; Keller, Jason M.; Strickland, Christopher E.

2007-01-01

The Hanford Site has 149 underground single-shell tanks that store hazardous radioactive waste. Many of these tanks and their associated infrastructure (e.g., pipelines, diversion boxes) have leaked. Some of the leaked waste has entered the groundwater. The largest known leak occurred from the T-106 Tank in 1973. Many of the contaminants from that leak still reside within the vadose zone beneath the T Tank Farm. CH2M Hill Hanford Group, Inc. seeks to minimize movement of this residual contaminant plume by placing an interim barrier on the surface. Such a barrier is expected to prevent infiltrating water from reaching the plume and moving it further. A plan has been prepared to monitor and determine the effectiveness of the interim surface barrier. Soil water content and water pressure will be monitored using off-the-shelf equipment that can be installed by the hydraulic hammer technique. In fiscal year 2006, two instrument nests were installed. Each instrument nest contains a neutron probe access tube, a capacitance probe, four heat-dissipation units, and a drain gauge to measure soil water flux. A meteorological station has been installed outside of the fence. In fiscal year 2007, two additional instrument nests are planned to be installed beneath the proposed barrier.

THE IMPORTANCE OF FINANCIAL INTERIM REPORTING FOR THE POSITION OF COMPANIES

Directory of Open Access Journals (Sweden)

Claudia‐Elena\tGRIGORAȘ‐ICHIM

2015-12-01

Full Text Available The importance that each company must grant to the strategic sources of information generates our concern for analysis of the interim financial reporting. In every enterprise, there are doubts on the usefulness of interim financial reports, given the following elements: the necessary time for their preparation (relatively long, their restricted character and the resources necessary to establish them. Finding a common solution to these problems and, implicitly, increasing the interest for interim financial reporting, can help to increase the economic performance of the company, either by reducing the unnecessary costs related to time, or by increasing communication and transparency with third parties. An appropriate management can act early in the direction of counteracting the negative effects in their company or prevention of any commercial or production failures, the overall economic trends in that field and increasing productivity. Starting from these premises, we propose a research in order to capture the main aspects related to the mentioned issues.

Long-term interim storage concepts with conditioning strategies ensuring compatibility with subsequent disposal or reprocessing

International Nuclear Information System (INIS)

Moitrier, C.; Tirel, I.; Villard, C.

2000-01-01

The objective of the CEA studies carried out under research topic 3 (long-term interim storage) of the 1991 French radioactive waste management law is to demonstrate the industrial feasibility of a comprehensive, flexible interim storage facility by thoroughly evaluating and comparing all the basic components of various interim storage concepts. In this context, the CEA is considering reference solutions or concepts based on three primary components (the package, the interim storage facility and the site) suitable for determining the specifications of a very long-term solution. Some aspects are examined in greater detail, such as the implementation of long-term technologies, conditioning processes ensuring the absence of water and contamination in the facility, or allowance for radioactive decay of the packages. The results obtained are continually compiled in reports substantiating the design options. These studies should also lead to an overall economic assessment in terms of the capital and operating cost requirements, thereby providing an additional basis for selecting the design options. The comparison with existing industrial facilities highlights the technical and economic progress represented by the new generation of interim storage units. (authors)

Federal interim storage fee study for civilian spent nuclear fuel: a technical and economical analysis

International Nuclear Information System (INIS)

1983-07-01

This report describes the study conducted by the Department of Energy (the Department) regarding payment charges for the federal interim storage (FIS) of spent fuel and presents the details of the study results. It describes the selection of a methodology for calculating a FIS fee schedule, sets forth the estimates of cost for construction and operation of FIS facilities, provides a range of estimates for the fee for FIS services, and identifies special contractual considerations associated with providing FIS services to authorized users. The fee is structured for a range of spent fuel capacities because of uncertainties regarding the schedule of availability and amount of spent fuel that may require and qualify for FIS. The results set forth in the report were used as a basis for development of the report entitled Payment Charges for Federal Interim Storage of Spent Nuclear Fuel from Civilian Nuclear Power Plants in the United States, dated July 1983

Application of dose evaluation of the MCNP code for interim spent fuel cask storage facility

International Nuclear Information System (INIS)

Kosako, Toshiso; Iimoto, Takeshi; Ishikawa, Satoshi; Tsuboi, Takafumi; Teramura, Masahiro; Okamura, Tomomi; Narumiya, Yoshiyuki

2007-01-01

The interim storage facility for spent fuel metallic cask is designed as a concrete building structure with air inlet and outlet for circulating the natural cooling. The feature of the interim storage facility is big capacity of spent fuel at several thousands MTU and restricted site usage. It is important to evaluate realistic dose rate in shielding design of the interim storage facility, therefore the three-dimensional continuous-energy Monte Carlo radiation transport code MCNP that exactly treating the complicated geometry was applied. The validation of dose evaluation for interim storage facility by MCNP code were performed by three kinds of neutron shielding benchmark experiments; cask shadow shielding experiment, duct streaming experiment and concrete deep penetration experiment. Dose rate distributions at each benchmark were measured and compared with the calculated results. The comparison showed a good consistency between calculation and experiment results. (author)

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

OpenAIRE

Hensman Moss, Davina J; Pardinas, Antonio; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A

2017-01-01

Background\\ud \\ud Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.\\ud \\ud Methods\\ud \\ud We generated a progression score on the basis of principal ...

Unexpected high genetic diversity in small populations suggests maintenance by associative overdominance

DEFF Research Database (Denmark)

Schou, Mads F.; Loeschcke, Volker; Bechsgaard, Jesper

2017-01-01

fragmented populations. More genetic diversity was retained in areas of low recombination, suggesting that associative overdominance, driven by disfavoured homozygosity of recessive deleterious alleles, is responsible for the maintenance of genetic diversity in smaller populations. Consistent...

Interim data report for the safety assessment SR-Can

International Nuclear Information System (INIS)

Vahlund, Fredrik; Andersson, Johan

2004-08-01

This document is the interim data report in the project SR-Can. The purpose of the data report is to present input data, with uncertainty estimates, for the SR-Can assessment calculations. Besides input data, the report also describes the standardised procedures used when deriving the input data and the corresponding uncertainty estimates. However, in the present interim version of the report (written in the initial stage of the project when site characterisation has yet not been completed) the standardised procedures have not been possible to apply for most of the data and, in order to present a compilation of the data used in the assessment, much of the input data is presented without following the standardised procedures. This will however be changed for the final version of the SR-Can data report, in order to show the methodology that will be used in the final version one example of how input data will be presented is included (migration data for buffer) . The recommended input data for the assessment calculations are, for the interim version, mainly based on SR 97 Beberg data, these are merely presented without any background or uncertainty discussion (this is presented in the SR 97 data report)

On coding genotypes for genetic markers with multiple alleles in genetic association study of quantitative traits

Directory of Open Access Journals (Sweden)

Wang Tao

2011-09-01

Full Text Available Abstract Background In genetic association study of quantitative traits using F∞ models, how to code the marker genotypes and interpret the model parameters appropriately is important for constructing hypothesis tests and making statistical inferences. Currently, the coding of marker genotypes in building F∞ models has mainly focused on the biallelic case. A thorough work on the coding of marker genotypes and interpretation of model parameters for F∞ models is needed especially for genetic markers with multiple alleles. Results In this study, we will formulate F∞ genetic models under various regression model frameworks and introduce three genotype coding schemes for genetic markers with multiple alleles. Starting from an allele-based modeling strategy, we first describe a regression framework to model the expected genotypic values at given markers. Then, as extension from the biallelic case, we introduce three coding schemes for constructing fully parameterized one-locus F∞ models and discuss the relationships between the model parameters and the expected genotypic values. Next, under a simplified modeling framework for the expected genotypic values, we consider several reduced one-locus F∞ models from the three coding schemes on the estimability and interpretation of their model parameters. Finally, we explore some extensions of the one-locus F∞ models to two loci. Several fully parameterized as well as reduced two-locus F∞ models are addressed. Conclusions The genotype coding schemes provide different ways to construct F∞ models for association testing of multi-allele genetic markers with quantitative traits. Which coding scheme should be applied depends on how convenient it can provide the statistical inferences on the parameters of our research interests. Based on these F∞ models, the standard regression model fitting tools can be used to estimate and test for various genetic effects through statistical contrasts with the

226Ra out of use therapeutic needles and tubes interim storage

International Nuclear Information System (INIS)

Pavlovic, R.; Plecas, I.; Maksic, R.; Pavlovic, S.; Vukovic, S.

1999-01-01

When the main producers stopped production of radium in the 1960s, the total quantity of radium produced by the main refiners was estimated to be a few kg. Continuous progress concerning the knowledge of hazards associated with the use of a radioactive material, and the characteristics of most of the devices containing radium, calls for a well planned and carefully executed collection and ongoing management of those items under the direction of responsible authorities. Some aspects of the related to the packaging and interim storage of spent radium therapeutic sources are presented in this paper. (author)

Operable Unit 3: Proposed Plan/Environmental Assessment for interim remedial action

International Nuclear Information System (INIS)

1993-12-01

This document presents a Proposed Plan and an Environmental Assessment for an interim remedial action to be undertaken by the US Department of Energy (DOE) within Operable Unit 3 (OU3) at the Fernald Environmental Management Project (FEMP). This proposed plan provides site background information, describes the remedial alternatives being considered, presents a comparative evaluation of the alternatives and a rationnale for the identification of DOE's preferred alternative, evaluates the potential environmental and public health effects associated with the alternatives, and outlines the public's role in helping DOE and the EPA to make the final decision on a remedy

Interim Storage Facility decommissioning. Final report

International Nuclear Information System (INIS)

Johnson, R.P.; Speed, D.L.

1985-01-01

Decontamination and decommissioning of the Interim Storage Facility were completed. Activities included performing a detailed radiation survey of the facility, removing surface and imbedded contamination, excavating and removing the fuel storage cells, restoring the site to natural conditions, and shipping waste to Hanford, Washington, for burial. The project was accomplished on schedule and 30% under budget with no measurable exposure to decommissioning personnel

Single-shell tank interim stabilization project plan

Energy Technology Data Exchange (ETDEWEB)

Ross, W.E.

1998-05-11

This project plan establishes the management framework for conduct of the TWRS Single-Shell Tank Interim Stabilization completion program. Specifically, this plan defines the mission needs and requirements; technical objectives and approach; organizational structure, roles, responsibilities, and interfaces; and operational methods. This plan serves as the project executional baseline.

14 CFR 136.41 - Interim operating authority.

Science.gov (United States)

2010-01-01

... AND NATIONAL PARKS AIR TOUR MANAGEMENT National Parks Air Tour Management § 136.41 Interim operating... terminate 180 days after the date on which an air tour management plan is established for the park and tribal lands; (6) Shall promote protection of national park resources, visitor experiences, and tribal...

Alternatives for managing wastes from reactors and post-fission operations in the LWR fuel cycle. Volume 3. Alternatives for interim storage and transportation

International Nuclear Information System (INIS)

1976-05-01

Volume III of the five-volume report contains information on alternatives for interim storage and transportation. Section titles are: interim storage of spent fuel elements; interim storage of chop-leach fuel bundle residues; tank storage of high-level liquid waste; interim storage of solid non-high-level wastes; interim storage of solidified high-level waste; and, transportation alternatives

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Science.gov (United States)

Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

2016-01-09

Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34,819 patients (19,713 with Crohn's disease, 14,683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype-phenotype associations across 156,154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. After quality control, the primary analysis included 29,838 patients (16,902 with Crohn's disease, 12,597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for inflammatory bowel disease showed strong association with

Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

Directory of Open Access Journals (Sweden)

Umaima Al-Alem

Full Text Available Non-Hispanic (nH Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.We used a panel of 100 ancestry informative markers (AIMs to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92 among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95 among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02 and higher grade (p = 0.012 in nH Whites and later stage (p = 0.03 in nH Blacks.Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

PROJECT W-551 INTERIM PRETREATMENT SYSTEM TECHNOLOGY SELECTION SUMMARY DECISION REPORT AND RECOMMENDATION

International Nuclear Information System (INIS)

CONRAD EA

2008-01-01

This report provides the conclusions of the tank farm interim pretreatment technology decision process. It documents the methodology, data, and results of the selection of cross-flow filtration and ion exchange technologies for implementation in project W-551, Interim Pretreatment System. This selection resulted from the evaluation of specific scope criteria using quantitative and qualitative analyses, group workshops, and technical expert personnel

Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

Science.gov (United States)

Dong, Ming; Li, Jinxin; Tang, Ruqi; Zhu, Ping; Qiu, Fang; Wang, Chan; Qiu, Jie; Wang, Lan; Dai, Yaping; Xu, Ping; Gao, Yueqiu; Han, Chongxu; Wang, Yongzhong; Wu, Jian; Wu, Xudong; Zhang, Kui; Dai, Na; Sun, Weihao; Zhou, Jianpo; Hu, Zhigang; Liu, Lei; Jiang, Yuzhang; Nie, Jinshan; Zhao, Yi; Gong, Yuhua; Tian, Ye; Ji, Hualiang; Jiao, Zhijun; Jiang, Po; Shi, Xingjuan; Jawed, Rohil; Zhang, Yu; Huang, Qinghai; Li, Enling; Wei, Yiran; Xie, Wei; Zhao, Weifeng; Liu, Xiang; Zhu, Xiang; Qiu, Hong; He, Gengsheng; Chen, Weichang; Seldin, Michael F; Gershwin, M Eric; Liu, Xiangdong; Ma, Xiong

2015-06-01

Multiple genome-wide association studies of primary biliary cirrhosis (PBC) in both European and Japanese ancestries have shown significant associations of many genetic loci contributing to the susceptibility to PBC. Major differences in susceptibility loci between these two population groups were observed. In this study, we examined whether the most significant loci observed in either European and/or Japanese cohorts are associated with PBC in a Han Chinese population. In 1070 PBC patients and 1198 controls, we observed highly significant associations at CD80 (rs2293370, P = 2.67 × 10(-8)) and TNFSF15 (rs4979462, P = 3.86 × 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-κB1 (rs7665090), IL12RB2 (rs11209050), and STAT4 (rs7574865; all corrected P values rs7574865) was strongly associated after additional control samples were analyzed. Our study is the first large-scale genetic analysis in a Han Chinese PBC cohort. These results do not only reflect that Han Chinese PBC patients share common genetic susceptibility genes with both their Japanese and European counterparts but also suggest a distinctly different genetic susceptibility profile.

The Generalized Higher Criticism for Testing SNP-Set Effects in Genetic Association Studies

Science.gov (United States)

Barnett, Ian; Mukherjee, Rajarshi; Lin, Xihong

2017-01-01

It is of substantial interest to study the effects of genes, genetic pathways, and networks on the risk of complex diseases. These genetic constructs each contain multiple SNPs, which are often correlated and function jointly, and might be large in number. However, only a sparse subset of SNPs in a genetic construct is generally associated with the disease of interest. In this article, we propose the generalized higher criticism (GHC) to test for the association between an SNP set and a disease outcome. The higher criticism is a test traditionally used in high-dimensional signal detection settings when marginal test statistics are independent and the number of parameters is very large. However, these assumptions do not always hold in genetic association studies, due to linkage disequilibrium among SNPs and the finite number of SNPs in an SNP set in each genetic construct. The proposed GHC overcomes the limitations of the higher criticism by allowing for arbitrary correlation structures among the SNPs in an SNP-set, while performing accurate analytic p-value calculations for any finite number of SNPs in the SNP-set. We obtain the detection boundary of the GHC test. We compared empirically using simulations the power of the GHC method with existing SNP-set tests over a range of genetic regions with varied correlation structures and signal sparsity. We apply the proposed methods to analyze the CGEM breast cancer genome-wide association study. Supplementary materials for this article are available online. PMID:28736464

Poor predictive value of positive interim FDG-PET/CT in primary mediastinal large B-cell lymphoma

Energy Technology Data Exchange (ETDEWEB)

Lazarovici, Julien; Petrovanu, Cynthia; Danu, Alina; Ferme, Christophe; Ribrag, Vincent; Ghez, David [Gustave Roussy, Villejuif (France). Dept. of Hematology; Paris Saclay Univ., Saint-Aubin (France); Terroir, Marie [Gustave Roussy, Villejuif (France). Dept. of Nuclear Medicine and Endocrine Oncology; Paris Saclay Univ., Saint-Aubin (France); Arfi-Rouche, Julia [Gustave Roussy, Villejuif (France). Dept. of Radiology; Paris Saclay Univ., Saint-Aubin (France); Michot, Jean-Marie [Gustave Roussy, Villejuif (France). Dept. of Drug Development (DITEP); Paris Saclay Univ., Saint-Aubin (France); Mussot, Sacha; Florea, Valentina [Marie Lannelongue Hospital, Le Plessis Robinson (France). Dept. of Thoracic Surgery; Ghigna, Maria-Rosa [Marie Lannelongue Hospital, Le Plessis Robinson (France). Dept. of Pathology; Dartigues, Peggy [Gustave Roussy, Villejuif (France). Dept. of Pathology; Paris Saclay Univ., Saint-Aubin (France)

2017-11-15

Though commonly used to assess response to therapy, the prognostic value of interim FDG-PET/CT in Primary Mediastinal Large B-cell Lymphoma (PMBCL) is unclear. We conducted a retrospective study on 36 consecutive patients treated at our institution for a PMBCL between 2006 and 2014. All patients with a positive interim FDG-PET/CT had undergone histological restaging consisting either in a surgical debulking of the residual lesion (15 patients) or a CT-guided core needle biopsy (two patients). All FDG-PET/CT were secondarily reviewed according to the more recent Deauville criteria. Interim FDG-PET/CT was considered positive in 17/36 patients using visual evaluation. Among these patients, 14 had a Deauville score of 4. Histological restaging was negative in all but one case, showing inflammation and/or fibrosis. After a median follow-up of 48.5 months, a total of five patients have relapsed, two patients in the positive FDG-PET/CT group, and three patients in the negative FDG-PET/CT group, respectively. These data indicate that a positive interim FDG-PET/CT does not reflect persistence of active disease in the vast majority of PMBCL cases. The relapse rate appears similar regardless of interim FDG-PET/CT results and interpretation criteria. This suggests that interim FDG-PET/CT has a poor positive predictive value, thus kt should be used with caution in PMBCL. (orig.)

T Tank Farm Interim Cover Test - Design Plan

International Nuclear Information System (INIS)

Zhang, Z. F.; Keller, Jason M.

2006-01-01

The Hanford Site has 149 underground single-shell tanks that store hazardous radioactive waste. Many of these tanks and their associated infrastructure (e.g., pipelines, diversion boxes) have leaked. Some of the leaked waste has entered the groundwater. The largest known leak occurred from the T-106 Tank in 1973. Many of the contaminants from that leak still reside within the vadose zone beneath the T Tank Farm. CH2M Hill Hanford Group, Inc. seeks to minimize movement of this residual contaminant plume by placing an interim cover on the surface. Such a cover is expected to prevent infiltrating water from reaching the plume and moving it further. Pacific Northwest National Laboratory has prepared a design plan to monitor and determine the effectiveness of the interim cover. A three-dimensional numerical simulation of water movement beneath a cover was conducted to guide the design of the plan. Soil water content, water pressure, and temperature will be monitored using off-the-shelf equipment that can be installed by the hydraulic hammer technique. In fiscal year 2006, two instrument nests will be installed, one inside and one outside of the proposed cover. In fiscal year 2007, two additional instrument nests, both inside the proposed cover, will be installed. Each instrument nest contains a neutron access tube and a capacitance probe (to measure water content), and four heat-dissipation units (to measure pressure head and temperature). A datalogger and a meteorological station will be installed outside of the fence. Two drain gauges will be installed in locations inside and outside the cover for the purpose of measuring soil water flux.

75 FR 13484 - Foreign-Trade Zone 22; Temporary/Interim Manufacturing Authority; LG Electronics Mobilecomm USA...

Science.gov (United States)

2010-03-22

... DEPARTMENT OF COMMERCE [Docket T-1-2010] Foreign-Trade Zones Board Foreign-Trade Zone 22; Temporary/Interim Manufacturing Authority; LG Electronics Mobilecomm USA, Inc. (Cell Phones); Notice of.../ interim manufacturing (T/IM) authority, on behalf of LG Electronics Mobilecomm USA, Inc. (LGEMU), to...

Interim Action Proposed Plan for the Chemicals, Metals, and Pesticides (CMP) Pits Operable Unit; FINAL

International Nuclear Information System (INIS)

Bradley, J.

2002-01-01

The purpose of this Interim Action Proposed Plan (IAPP) is to describe the preferred interim remedial action for addressing the Chemicals, Metals, and Pesticides (CMP) Pits Operable Unit and to provide an opportunity for public input into the remedial action selection process

Automotive Mechanics Occupational Performance Survey. Interim Report.

Science.gov (United States)

Borcher, Sidney D.; Leiter, Paul B.

The purpose of this federally-funded interim report is to present the results of a task inventory analysis survey of automotive mechanics completed by project staff within the Instructional Systems Design Program at the Center for Vocational and Technical Education. Intended for use in curriculum development for vocational education programs in…

340 waste handling facility interim safety basis

Energy Technology Data Exchange (ETDEWEB)

VAIL, T.S.

1999-04-01

This document presents an interim safety basis for the 340 Waste Handling Facility classifying the 340 Facility as a Hazard Category 3 facility. The hazard analysis quantifies the operating safety envelop for this facility and demonstrates that the facility can be operated without a significant threat to onsite or offsite people.

340 waste handling facility interim safety basis

International Nuclear Information System (INIS)

VAIL, T.S.

1999-01-01

This document presents an interim safety basis for the 340 Waste Handling Facility classifying the 340 Facility as a Hazard Category 3 facility. The hazard analysis quantifies the operating safety envelop for this facility and demonstrates that the facility can be operated without a significant threat to onsite or offsite people

A genetic perspective on the association between exercise and mental health.

NARCIS (Netherlands)

de Geus, E.J.C.; de Moor, M.H.M.

2008-01-01

Regular exercise is associated with better mental health. This association is widely assumed to reflect causal effects of exercise. In this paper we propose that two additional mechanisms contribute to the association between exercise and mental health in the population-at-large: genetic pleiotropy

An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits.

Directory of Open Access Journals (Sweden)

Iksoo Huh

Full Text Available Recent advances in genotyping methodologies have allowed genome-wide association studies (GWAS to accurately identify genetic variants that associate with common or pathological complex traits. Although most GWAS have focused on associations with single genetic variants, joint identification of multiple genetic variants, and how they interact, is essential for understanding the genetic architecture of complex phenotypic traits. Here, we propose an efficient stepwise method based on the Cochran-Mantel-Haenszel test (for stratified categorical data to identify causal joint multiple genetic variants in GWAS. This method combines the CMH statistic with a stepwise procedure to detect multiple genetic variants associated with specific categorical traits, using a series of associated I × J contingency tables and a null hypothesis of no phenotype association. Through a new stratification scheme based on the sum of minor allele count criteria, we make the method more feasible for GWAS data having sample sizes of several thousands. We also examine the properties of the proposed stepwise method via simulation studies, and show that the stepwise CMH test performs better than other existing methods (e.g., logistic regression and detection of associations by Markov blanket for identifying multiple genetic variants. Finally, we apply the proposed approach to two genomic sequencing datasets to detect linked genetic variants associated with bipolar disorder and obesity, respectively.

Surface Water Interim Measures/Interim Remedial Action Plan/Environmental Assessment and Decision Document for South Walnut Creek Basin (Operable Unit No. 2)

International Nuclear Information System (INIS)

1991-01-01

The Department of Energy (DOE) is pursuing an Interim Measure/Interim Remedial Action (IM/IRA) at the 903 Pad, Mound, and East Trenches Areas (Operable Unit No. 2) at the Rocky Flats Plant (RFP). This IM/IRA is to be conducted to minimize the release from these areas of hazardous substances that pose a potential threat to the public health and environment. The Plan involved the collection of contaminated surface water at specific locations, treatment by chemical precipitation, cross-flow membrane filtration and granular activated carbon (GAC) adsorption, and surface discharge of treated water. Information for the initial configuration of the Plan is presented in the document entitled ''Proposed Interim Measures/Interim Remedial Action Plan and Decision Document, 903 Pad, Mound, and East Trenches Areas, Operable Unit No. 2'' (IM/IRAP) dated 26 September 1990. Information concerning the proposed Surface Water IM/IRA was presented during a public meeting held from 7 to 10 p.m., Tuesday, 23 October 1990, at the Westminster City Park Recreation Center in Westminster, Colorado. This Responsiveness Summary presents DOE's response to all comments received at the public meeting, as well as those mailed to DOE during the public comment period which ended 24 November 1990. There were a number of technical comments on the plan that DOE has addressed herein. It is noted that several major issues were raised by the comments. Regardless of the estimated low risk to the public from construction and water transport activities, the popular sentiment of the public, based on comments received, is strong concern over worker and public health risks from these activities. In the light of public and municipal concerns, DOE proposes to eliminate from this IM/IRA the interbasin transfer of Woman Creek seepage to the South Walnut Creek drainage and to address collection and treatment of contaminated South Walnut Creek and Woman Creek surface water under two separate IM/IRAs

Genetics in psychiatry: common variant association studies

Directory of Open Access Journals (Sweden)

Buxbaum Joseph D

2010-03-01

Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

Finding of no significant impact. Consolidation and interim storage of special nuclear material at Rocky Flats Environmental Technology Site

Energy Technology Data Exchange (ETDEWEB)

NONE

1995-06-01

The Department of Energy (DOE) has prepared an environmental assessment (EA), DOE/EA -- 1060, for the consolidation, processing, and interim storage of Category I and II special nuclear material (SNM) in Building 371 at the Rocky Flats Environmental Technology Site (hereinafter referred to as Rocky Flats or Site), Golden, Colorado. The scope of the EA included alternatives for interim storage including the no action alternative, the construction of a new facility for interim storage at Rocky Flats, and shipment to other DOE facilities for interim storage.

Finding of no significant impact. Consolidation and interim storage of special nuclear material at Rocky Flats Environmental Technology Site

International Nuclear Information System (INIS)

1995-06-01

The Department of Energy (DOE) has prepared an environmental assessment (EA), DOE/EA -- 1060, for the consolidation, processing, and interim storage of Category I and II special nuclear material (SNM) in Building 371 at the Rocky Flats Environmental Technology Site (hereinafter referred to as Rocky Flats or Site), Golden, Colorado. The scope of the EA included alternatives for interim storage including the no action alternative, the construction of a new facility for interim storage at Rocky Flats, and shipment to other DOE facilities for interim storage

78 FR 70244 - Electronic Interim Assistance Reimbursement Program

Science.gov (United States)

2013-11-25

..., Social Security Online, at http://www.socialsecurity.gov . SUPPLEMENTARY INFORMATION: Background To be... SOCIAL SECURITY ADMINISTRATION 20 CFR Part 416 [Docket No. SSA-2011-0104] RIN 0960-AH45 Electronic Interim Assistance Reimbursement Program AGENCY: Social Security Administration. ACTION: Notice of...

Federal Administrative Court confirms interim action for the Kruemmel power plant site

International Nuclear Information System (INIS)

Anon.

1982-01-01

The interim action concerning the reactor site was confirmed in 1972, the action of voidance because of the possible injuriousness to health was rejected in the first instance. In the appeal OVG Lueneburg had sharpened three clauses concerning the contents of the restrictions and injunctions included in the interim action to the disadvantage of the operator. Responding to a new appeal the BVerwG has eliminated these restrictions and dismissed the following appeals of the plaintiffs. (HP) [de

77 FR 34935 - Foreign-Trade Zone 161; Temporary/Interim Manufacturing Authority; Siemens Energy, Inc., (Wind...

Science.gov (United States)

2012-06-12

... DEPARTMENT OF COMMERCE Foreign-Trade Zones Board [Docket T-4-2012] Foreign-Trade Zone 161; Temporary/Interim Manufacturing Authority; Siemens Energy, Inc., (Wind Turbine Nacelles and Hubs); Notice of... temporary/interim manufacturing (T/IM) authority, on behalf of Siemens Energy, Inc., to manufacture wind...

Using ERA-Interim reanalysis for creating datasets of energy-relevant climate variables

Science.gov (United States)

Jones, Philip D.; Harpham, Colin; Troccoli, Alberto; Gschwind, Benoit; Ranchin, Thierry; Wald, Lucien; Goodess, Clare M.; Dorling, Stephen

2017-07-01

The construction of a bias-adjusted dataset of climate variables at the near surface using ERA-Interim reanalysis is presented. A number of different, variable-dependent, bias-adjustment approaches have been proposed. Here we modify the parameters of different distributions (depending on the variable), adjusting ERA-Interim based on gridded station or direct station observations. The variables are air temperature, dewpoint temperature, precipitation (daily only), solar radiation, wind speed, and relative humidity. These are available on either 3 or 6 h timescales over the period 1979-2016. The resulting bias-adjusted dataset is available through the Climate Data Store (CDS) of the Copernicus Climate Change Data Store (C3S) and can be accessed at present from climate.copernicus.eu" target="_blank">ftp://ecem.climate.copernicus.eu. The benefit of performing bias adjustment is demonstrated by comparing initial and bias-adjusted ERA-Interim data against gridded observational fields.

EPA's Revised Interim Financial Assistance Conflict of Interest Policy

Science.gov (United States)

EPA has established the following revised interim policy governing disclosure of actual and potential conflicts of interest (COI Policy) by applicants for, and recipients of, federal financial assistance awards from EPA.

Genetic HLA Associations in Complex Regional Pain Syndrome With and Without Dystonia

NARCIS (Netherlands)

van Rooijen, D.E.; Roelen, D.L.; Verduijn, W.; Haasnoot, G.W.; Huygen, F.J.P.M.; Perez, R.S.G.M.; Claas, F.H.J.; Marinus, J.; van Hilten, J.J.; van den Maagdenberg, A.M.J.M.

2012-01-01

We previously showed evidence for a genetic association of the human leukocyte antigen (HLA) system and complex regional pain syndrome (CRPS) with dystonia. Involvement of the HLA system suggests that CRPS has a genetic component with perturbed regulation of inflammation and neuroplasticity as

Genetics of immune-mediated disorders : from genome-wide association to molecular mechanism

NARCIS (Netherlands)

Kumar, Vinod; Wijmenga, Cisca; Xavier, Ramnik J.

2014-01-01

Genetic association studies have identified not only hundreds of susceptibility loci to immune-mediated diseases but also pinpointed causal amino-acid variants of HLA genes that contribute to many autoimmune reactions. Majority of non-HLA genetic variants are located within non-coding regulatory

39 CFR 211.4 - Interim personnel regulations.

Science.gov (United States)

2010-07-01

... 39 Postal Service 1 2010-07-01 2010-07-01 false Interim personnel regulations. 211.4 Section 211.4... under the Postal Reorganization Act. (b) Continuation of Personnel Provisions of Former title 39, U.S.C... collective bargaining agreement under the Postal Reorganization Act, all provisions of former title 39, U.S.C...

Genome-wide association studies dissect the genetic networks underlying agronomical traits in soybean.

Science.gov (United States)

Fang, Chao; Ma, Yanming; Wu, Shiwen; Liu, Zhi; Wang, Zheng; Yang, Rui; Hu, Guanghui; Zhou, Zhengkui; Yu, Hong; Zhang, Min; Pan, Yi; Zhou, Guoan; Ren, Haixiang; Du, Weiguang; Yan, Hongrui; Wang, Yanping; Han, Dezhi; Shen, Yanting; Liu, Shulin; Liu, Tengfei; Zhang, Jixiang; Qin, Hao; Yuan, Jia; Yuan, Xiaohui; Kong, Fanjiang; Liu, Baohui; Li, Jiayang; Zhang, Zhiwu; Wang, Guodong; Zhu, Baoge; Tian, Zhixi

2017-08-24

Soybean (Glycine max [L.] Merr.) is one of the most important oil and protein crops. Ever-increasing soybean consumption necessitates the improvement of varieties for more efficient production. However, both correlations among different traits and genetic interactions among genes that affect a single trait pose a challenge to soybean breeding. To understand the genetic networks underlying phenotypic correlations, we collected 809 soybean accessions worldwide and phenotyped them for two years at three locations for 84 agronomic traits. Genome-wide association studies identified 245 significant genetic loci, among which 95 genetically interacted with other loci. We determined that 14 oil synthesis-related genes are responsible for fatty acid accumulation in soybean and function in line with an additive model. Network analyses demonstrated that 51 traits could be linked through the linkage disequilibrium of 115 associated loci and these links reflect phenotypic correlations. We revealed that 23 loci, including the known Dt1, E2, E1, Ln, Dt2, Fan, and Fap loci, as well as 16 undefined associated loci, have pleiotropic effects on different traits. This study provides insights into the genetic correlation among complex traits and will facilitate future soybean functional studies and breeding through molecular design.

A weighted U statistic for association analyses considering genetic heterogeneity.

Science.gov (United States)

Wei, Changshuai; Elston, Robert C; Lu, Qing

2016-07-20

Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex diseases has been largely overlooked. Most of the existing statistical methods assume the disease under investigation has a homogeneous genetic effect and could, therefore, have low power if the disease undergoes heterogeneous pathophysiological and etiological processes. In this paper, we propose a heterogeneity-weighted U (HWU) method for association analyses considering genetic heterogeneity. HWU can be applied to various types of phenotypes (e.g., binary and continuous) and is computationally efficient for high-dimensional genetic data. Through simulations, we showed the advantage of HWU when the underlying genetic etiology of a disease was heterogeneous, as well as the robustness of HWU against different model assumptions (e.g., phenotype distributions). Using HWU, we conducted a genome-wide analysis of nicotine dependence from the Study of Addiction: Genetics and Environments dataset. The genome-wide analysis of nearly one million genetic markers took 7h, identifying heterogeneous effects of two new genes (i.e., CYP3A5 and IKBKB) on nicotine dependence. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Dry interim storage of radioactive material in Germany

International Nuclear Information System (INIS)

Drobniewski, Christian; Palmes, Julia

2013-01-01

In accordance with the waste management concept in Germany, spent fuel is stored in interim storage facilities for a period of up to 40 years until deposition in a geological repository. In twelve on-site interim storages in the vicinity or directly on the sites of the nuclear power plants, spent fuel elements from reactor operation are stored after the necessary period of decay in wet storage basins inside the reactors. Additionally, three central interim storage facilities for storage of spent fuel of different origin are in operation. The German facilities realize the concept of dry interim storage in metallic transport and storage casks. The confinement of the radioactive material is ensured by the double lid system of the casks, of which the leak tightness is monitored constantly. The casks are constructed to provide adequate heat removal and shielding of gamma and neutron radiation. Usually the storage facilities are halls of thick concrete structures, which ensure the removal of the decay heat by natural convection. The main safety goal of the storage concept is to prevent unnecessary exposure of persons, material goods and environment to ionizing radiation. Moreover any exposure should be kept as low as reasonable achievable. To reach this goal the containment of the radioactive materials, the disposal of decay heat, the sub criticality and the shielding of ionizing radiation has to be demonstrated by the applicant and verified by the licensing authority. In particular accidents, incidents and disasters have to be considered in the facility and cask design. This includes mechanical impacts onto the cask, internal and external fire, and environmental effects like wind, rain, snowfall, flood, earthquakes and landslides. In addition civilizatoric influences like plane crashes and explosions have to be taken into account. In all mentioned cases the secure confinement of the radioactive materials has to be ensured. On-site storage facilities have to consider the

Guidelines for interim storage of low level waste

International Nuclear Information System (INIS)

Hornibrook, C.; Castagnacci, A.; Clymer, G.; Kelly, J.; Naughton, M.; Saunders, P.; Stoner, P.; Walker, N.; Cazzolli, R.; Dettenmeier, R.; Loucks, L.; Rigsby, M.; Spall, M.; Strum, M.

1992-12-01

This report presents an overview of on-site storage of Low Level Waste while providing guidelines for using the complete Interim On-Site Storage of Low Level Waste report series. Overall, this report provides a methodology for planning and implementing on-site storage

Genetic association of telomere length with hepatocellular carcinoma risk: A Mendelian randomization analysis.

Science.gov (United States)

Cheng, Yue; Yu, Chengxiao; Huang, Mingtao; Du, Fangzhi; Song, Ci; Ma, Zijian; Zhai, Xiangjun; Yang, Yuan; Liu, Jibin; Bei, Jin-Xin; Jia, Weihua; Jin, Guangfu; Li, Shengping; Zhou, Weiping; Liu, Jianjun; Dai, Juncheng; Hu, Zhibin

2017-10-01

Observational studies show an association between telomere length and Hepatocellular carcinoma (HCC) risk, but the relationship is controversial. Particularly, it remains unclear whether the association is due to confounding or biases inherent in conventional epidemiological studies. Here, we applied Mendelian randomization approach to evaluate whether telomere length is causally associated with HCC risk. Individual-level data were from HBV-related HCC Genome-wide association studies (1,538 HBV positive HCC patients and 1,465 HBV positive controls). Genetic risk score, as proxy for actual measured telomere length, derived from nine telomere length-associated genetic variants was used to evaluate the effect of telomere length on HCC risk. We observed a significant risk signal between genetically increased telomere length and HBV-related HCC risk (OR=2.09, 95% CI 1.32-3.31, P=0.002). Furthermore, a U-shaped curve was fitted by the restricted cubic spline curve, which indicated that either short or long telomere length would increase HCC risk (P=0.0022 for non-linearity test). Subgroup analysis did not reveal significant heterogeneity between different age, gender, smoking status and drinking status groups. Our results indicated that a genetic background that favors longer or shorter telomere length may increase HBV-related HCC risk-a U-shaped association. Copyright © 2017 Elsevier Ltd. All rights reserved.

STOPGAP: a database for systematic target opportunity assessment by genetic association predictions.

Science.gov (United States)

Shen, Judong; Song, Kijoung; Slater, Andrew J; Ferrero, Enrico; Nelson, Matthew R

2017-09-01

We developed the STOPGAP (Systematic Target OPportunity assessment by Genetic Association Predictions) database, an extensive catalog of human genetic associations mapped to effector gene candidates. STOPGAP draws on a variety of publicly available GWAS associations, linkage disequilibrium (LD) measures, functional genomic and variant annotation sources. Algorithms were developed to merge the association data, partition associations into non-overlapping LD clusters, map variants to genes and produce a variant-to-gene score used to rank the relative confidence among potential effector genes. This database can be used for a multitude of investigations into the genes and genetic mechanisms underlying inter-individual variation in human traits, as well as supporting drug discovery applications. Shell, R, Perl and Python scripts and STOPGAP R data files (version 2.5.1 at publication) are available at https://github.com/StatGenPRD/STOPGAP . Some of the most useful STOPGAP fields can be queried through an R Shiny web application at http://stopgapwebapp.com . matthew.r.nelson@gsk.com. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

The Homestake Interim Laboratory and Homestake DUSEL

Science.gov (United States)

Lesko, Kevin T.

2011-12-01

The former Homestake gold mine in Lead South Dakota is proposed for the National Science Foundation's Deep Underground Science and Engineering Laboratory (DUSEL). The gold mine provides expedient access to depths in excess of 8000 feet below the surface (>7000 mwe). Homestake's long history of promoting scientific endeavours includes the Davis Solar Neutrino Experiment, a chlorine-based experiment that was hosted at the 4850 Level for more than 30 years. As DUSEL, Homestake would be uncompromised by competition with mining interests or other shared uses. The facility's 600-km of drifts would be available for conversion for scientific and educational uses. The State of South Dakota, under Governor Rounds' leadership, has demonstrated exceptionally strong support for Homestake and the creation of DUSEL. The State has provided funding totalling $46M for the preservation of the site for DUSEL and for the conversion and operation of the Homestake Interim Laboratory. Motivated by the strong educational and outreach potential of Homestake, the State contracted a Conversion Plan by world-recognized mine-engineering contractor to define the process of rehabilitating the facility, establishing the appropriate safety program, and regaining access to the facility. The State of South Dakota has established the South Dakota Science and Technology Authority to oversee the transfer of the Homestake property to the State and the rehabilitation and preservation of the facility. The Homestake Scientific Collaboration and the State of South Dakota's Science and Technology Authority has called for Letters of Interest from scientific, educational and engineering collaborations and institutions that are interested in hosting experiments and uses in the Homestake Interim Facility in advance of the NSF's DUSEL, to define experiments starting as early as 2007. The Homestake Program Advisory Committee has reviewed these Letters and their initial report has been released. Options for

The Homestake Interim Laboratory and Homestake DUSEL

International Nuclear Information System (INIS)

Lesko, Kevin T.

2011-01-01

The former Homestake gold mine in Lead South Dakota is proposed for the National Science Foundation's Deep Underground Science and Engineering Laboratory (DUSEL). The gold mine provides expedient access to depths in excess of 8000 feet below the surface (>7000 mwe). Homestake's long history of promoting scientific endeavours includes the Davis Solar Neutrino Experiment, a chlorine-based experiment that was hosted at the 4850 Level for more than 30 years. As DUSEL, Homestake would be uncompromised by competition with mining interests or other shared uses. The facility's 600-km of drifts would be available for conversion for scientific and educational uses. The State of South Dakota, under Governor Rounds' leadership, has demonstrated exceptionally strong support for Homestake and the creation of DUSEL. The State has provided funding totalling $46M for the preservation of the site for DUSEL and for the conversion and operation of the Homestake Interim Laboratory. Motivated by the strong educational and outreach potential of Homestake, the State contracted a Conversion Plan by world-recognized mine-engineering contractor to define the process of rehabilitating the facility, establishing the appropriate safety program, and regaining access to the facility. The State of South Dakota has established the South Dakota Science and Technology Authority to oversee the transfer of the Homestake property to the State and the rehabilitation and preservation of the facility. The Homestake Scientific Collaboration and the State of South Dakota's Science and Technology Authority has called for Letters of Interest from scientific, educational and engineering collaborations and institutions that are interested in hosting experiments and uses in the Homestake Interim Facility in advance of the NSF's DUSEL, to define experiments starting as early as 2007. The Homestake Program Advisory Committee has reviewed these Letters and their initial report has been released. Options for

Genome-Wide Association Meta-Analyses to Identify Common Genetic Variants Associated with Hallux Valgus in Caucasian and African Americans

Science.gov (United States)

Hsu, Yi-Hsiang; Liu, Youfang; Hannan, Marian T.; Maixner, William; Smith, Shad B.; Diatchenko, Luda; Golightly, Yvonne M.; Menz, Hylton B.; Kraus, Virginia B.; Doherty, Michael; Wilson, A.G.; Jordan, Joanne M.

2016-01-01

Objective Hallux valgus (HV) affects ~36% of Caucasian adults. Although considered highly heritable, the underlying genetic determinants are unclear. We conducted the first genome-wide association study (GWAS) aimed to identify genetic variants associated with HV. Methods HV was assessed in 3 Caucasian cohorts (n=2,263, n=915, and n=1,231 participants, respectively). In each cohort, a GWAS was conducted using 2.5M imputed single nucleotide polymorphisms (SNPs). Mixed-effect regression with the additive genetic model adjusted for age, sex, weight and within-family correlations was used for both sex-specific and combined analyses. To combine GWAS results across cohorts, fixed-effect inverse-variance meta-analyses were used. Following meta-analyses, top-associated findings were also examined in an African American cohort (n=327). Results The proportion of HV variance explained by genome-wide genotyped SNPs was 50% in men and 48% in women. A higher proportion of genetic determinants of HV was sex-specific. The most significantly associated SNP in men was rs9675316 located on chr17q23-a24 near the AXIN2 gene (p=5.46×10−7); the most significantly associated SNP in women was rs7996797 located on chr13q14.1-q14.2 near the ESD gene (p=7.21×10−7). Genome-wide significant SNP-by-sex interaction was found for SNP rs1563374 located on chr11p15.1 near the MRGPRX3 gene (interaction p-value =4.1×10−9). The association signals diminished when combining men and women. Conclusion Findings suggest that the potential pathophysiological mechanisms of HV are complex and strongly underlined by sex-specific interactions. The identified genetic variants imply contribution of biological pathways observed in osteoarthritis as well as new pathways, influencing skeletal development and inflammation. PMID:26337638

Reconciling genetic evolution and the associative learning account of mirror neurons through data-acquisition mechanisms.

Science.gov (United States)

Lotem, Arnon; Kolodny, Oren

2014-04-01

An associative learning account of mirror neurons should not preclude genetic evolution of its underlying mechanisms. On the contrary, an associative learning framework for cognitive development should seek heritable variation in the learning rules and in the data-acquisition mechanisms that construct associative networks, demonstrating how small genetic modifications of associative elements can give rise to the evolution of complex cognition.

Interim Feed The Future Population Based Assessment of Cambodia

Data.gov (United States)

US Agency for International Development — This is the interim population based survey of Feed the Future in Cambodia for 2015. The data is split into survey modules. Modules A through C includes location...

Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.

Directory of Open Access Journals (Sweden)

Paul J Leo

2017-08-01

Full Text Available A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression are incompletely understood. We sought to define the genetic loci involved in cervical neoplasia and to assess its heritability using unbiased unrelated case/control statistical approaches. We demonstrated strong association of cervical neoplasia with risk and protective HLA haplotypes that are determined by the amino-acids carried at positions 13 and 71 in pocket 4 of HLA-DRB1 and position 156 in HLA-B. Furthermore, 36% (standard error 2.4% of liability of HPV-associated cervical pre-cancer and cancer is determined by common genetic variants. Women in the highest 10% of genetic risk scores have approximately >7.1% risk, and those in the highest 5% have approximately >21.6% risk, of developing cervical neoplasia. Future studies should examine genetic risk prediction in assessing the risk of cervical neoplasia further, in combination with other screening methods.

Fuel supply shutdown facility interim operational safety requirements

International Nuclear Information System (INIS)

Besser, R.L.; Brehm, J.R.; Benecke, M.W.; Remaize, J.A.

1995-01-01

These Interim Operational Safety Requirements (IOSR) for the Fuel Supply Shutdown (FSS) facility define acceptable conditions, safe boundaries, bases thereof, and management or administrative controls to ensure safe operation. The IOSRs apply to the fuel material storage buildings in various modes (operation, storage, surveillance)

A genome-wide association study of social genetic effects in Landrace pigs.

Science.gov (United States)

Hong, Joon Ki; Jeong, Yong Dae; Cho, Eun Seok; Choi, Tae Jeong; Kim, Yong Min; Cho, Kyu Ho; Lee, Jae Bong; Lim, Hyun Tae; Lee, Deuk Hwan

2018-06-01

The genetic effects of an individual on the phenotypes of its social partners, such as its pen mates, are known as social genetic effects. This study aims to identify the candidate genes for social (pen-mates') average daily gain (ADG) in pigs by using the genome-wide association approach. Social ADG (sADG) was the average ADG of unrelated pen-mates (strangers). We used the phenotype data (16,802 records) after correcting for batch (week), sex, pen, number of strangers (1 to 7 pigs) in the pen, full-sib rate (0% to 80%) within pen, and age at the end of the test. A total of 1,041 pigs from Landrace breeds were genotyped using the Illumina PorcineSNP60 v2 BeadChip panel, which comprised 61,565 single nucleotide polymorphism (SNP) markers. After quality control, 909 individuals and 39,837 markers remained for sADG in genome-wide association study. We detected five new SNPs, all on chromosome 6, which have not been associated with social ADG or other growth traits to date. One SNP was inside the prostaglandin F2α receptor ( PTGFR ) gene, another SNP was located 22 kb upstream of gene interferon-induced protein 44 ( IFI44 ), and the last three SNPs were between 161 kb and 191 kb upstream of the EGF latrophilin and seven transmembrane domain-containing protein 1 ( ELTD1 ) gene. PTGFR, IFI44, and ELTD1 were never associated with social interaction and social genetic effects in any of the previous studies. The identification of several genomic regions, and candidate genes associated with social genetic effects reported here, could contribute to a better understanding of the genetic basis of interaction traits for ADG. In conclusion, we suggest that the PTGFR, IFI44, and ELTD1 may be used as a molecular marker for sADG, although their functional effect was not defined yet. Thus, it will be of interest to execute association studies in those genes.

Genetic association of marbling score with intragenic nucleotide variants at selection signals of the bovine genome.

Science.gov (United States)

Ryu, J; Lee, C

2016-04-01

Selection signals of Korean cattle might be attributed largely to artificial selection for meat quality. Rapidly increased intragenic markers of newly annotated genes in the bovine genome would help overcome limited findings of genetic markers associated with meat quality at the selection signals in a previous study. The present study examined genetic associations of marbling score (MS) with intragenic nucleotide variants at selection signals of Korean cattle. A total of 39 092 nucleotide variants of 407 Korean cattle were utilized in the association analysis. A total of 129 variants were selected within newly annotated genes in the bovine genome. Their genetic associations were analyzed using the mixed model with random polygenic effects based on identical-by-state genetic relationships among animals in order to control for spurious associations produced by population structure. Genetic associations of MS were found (Pdirectional selection for greater MS and remain selection signals in the bovine genome. Further studies of fine mapping would be useful to incorporate favorable alleles in marker-assisted selection for MS of Korean cattle.

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

NARCIS (Netherlands)

Beaumont, R.N. (Robin N.); N.M. Warrington (Nicole); A. Cavadino (Alana); A.W.R. Tyrrell; M. Nodzenski (Michael); M. Horikoshi (Momoko); F. Geller (Frank); R. Myhre (Ronny); R.C. Richmond (Rebecca C.); Paternoster, L. (Lavinia); J.P. Bradfield (Jonathan); E. Kreiner-Møller (Eskil); V. Huikari (Ville); S. Metrustry (Sarah); K.L. Lunetta (Kathryn); J.N. Painter (Jodie N.); J.J. Hottenga (Jouke Jan); C. Allard (Catherine); S.J. Barton (Sheila J.); Espinosa, A. (Ana); J.A. Marsh (Julie); C. Potter (Catherine); Zhang, G. (Ge); W.Q. Ang (Wei); D. Berry (Diane); L. Bouchard (Luigi); S. Das (Shikta); H. Hakonarson (Hakon); J. Heikkinen (Jani); Helgeland, Ø. (Øyvind); B. Hocher (Berthold); A. Hofman (Albert); H.M. Inskip (Hazel); S.E. Jones (Samuel E.); M. Kogevinas (Manolis); P.A. Lind (Penelope); L. Marullo (Letizia); S.E. Medland (Sarah Elizabeth); Murray, A. (Anna); Murray, J.C. (Jeffrey C.); Njølstad, P.R. (Pa l R.); C. Nohr (Christian); C. Reichetzeder (Christoph); S.M. Ring (Susan); K.S. Ruth (Katherine S.); L. Santa-Marina (Loreto); D.M. Scholtens (Denise M.); Sebert, S. (Sylvain); V. Sengpiel (Verena); Tuke, M.A. (Marcus A.); Vaudel, M. (Marc); M.N. Weedon (Michael); G.A.H.M. Willemsen (Gonneke); Wood, A.R. (Andrew R.); Yaghootkar, H. (Hanieh); Muglia, L.J. (Louis J.); M. Bartels (Meike); C.L. Relton (Caroline); C.E. Pennell (Craig); L. Chatzi (Leda); Estivill, X. (Xavier); Holloway, J.W. (John W.); D.I. Boomsma (Dorret); Montgomery, G.W. (Grant W.); J. Murabito (Joanne); T.D. Spector (Timothy); Power, C. (Christine); Järvelin, M.-R. (Marjo-Ritta); Bisgaard, H. (Hans); Grant, S.F.A. (Struan F.A.); Sørensen, T.I.A. (Thorkild I.A.); Jaddoe, V.W. (Vincent W.); B. Jacobsson (Bo); Melbye, M. (Mads); McCarthy, M.I. (Mark I.); A.T. Hattersley (Andrew); Hayes, M.G. (M. Geoffrey); T.M. Frayling (Timothy); M.-F. Hivert (Marie-France); J.F. Felix (Janine); Hyppönen, E. (Elina); Lowe, W.L. (William L.); Evans, D.M. (David M.); Lawlor, D.A. (Debbie A.); B. Feenstra (Bjarke); R.M. Freathy (Rachel)

2018-01-01

textabstractGenome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal

An allowable cladding peak temperature for spent nuclear fuels in interim dry storage

Science.gov (United States)

Cha, Hyun-Jin; Jang, Ki-Nam; Kim, Kyu-Tae

2018-01-01

Allowable cladding peak temperatures for spent fuel cladding integrity in interim dry storage were investigated, considering hydride reorientation and mechanical property degradation behaviors of unirradiated and neutron irradiated Zr-Nb cladding tubes. Cladding tube specimens were heated up to various temperatures and then cooled down under tensile hoop stresses. Cool-down specimens indicate that higher heat-up temperature and larger tensile hoop stress generated larger radial hydride precipitation and smaller tensile strength and plastic hoop strain. Unirradiated specimens generated relatively larger radial hydride precipitation and plastic strain than did neutron irradiated specimens. Assuming a minimum plastic strain requirement of 5% for cladding integrity maintenance in interim dry storage, it is proposed that a cladding peak temperature during the interim dry storage is to keep below 250 °C if cladding tubes are cooled down to room temperature.

Power assessment for genetic association study of human longevity using offspring of long-lived subjects

DEFF Research Database (Denmark)

Tan, Qihua; Zhao, Jing Hua; Li, Shuxia

2010-01-01

and the proportional hazard model for generating individual lifespan. Family genotype data is generated using a genetic linkage program for given SNP allele frequency. Power is estimated by setting the type I error rate at 0.05 and by calculating the Armitage's chi-squared test statistic for 200 replicate samples...... the direct approach. It also has low power in detecting non-additive effect genes. Indirect genetic association using offspring from families with both parents as nonagenarians is nearly as powerful as using offspring from families with one centenarian parent. In conclusion, the indirect design can be a good......Recently, an indirect genetic association approach that compares genotype frequencies in offspring of long-lived subjects and offspring from random families has been introduced to study gene-longevity associations. Although the indirect genetic association has certain advantages over the direct...

Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese.

Science.gov (United States)

Lubitz, Steven A; Lunetta, Kathryn L; Lin, Honghuang; Arking, Dan E; Trompet, Stella; Li, Guo; Krijthe, Bouwe P; Chasman, Daniel I; Barnard, John; Kleber, Marcus E; Dörr, Marcus; Ozaki, Kouichi; Smith, Albert V; Müller-Nurasyid, Martina; Walter, Stefan; Agarwal, Sunil K; Bis, Joshua C; Brody, Jennifer A; Chen, Lin Y; Everett, Brendan M; Ford, Ian; Franco, Oscar H; Harris, Tamara B; Hofman, Albert; Kääb, Stefan; Mahida, Saagar; Kathiresan, Sekar; Kubo, Michiaki; Launer, Lenore J; MacFarlane, Peter W; Magnani, Jared W; McKnight, Barbara; McManus, David D; Peters, Annette; Psaty, Bruce M; Rose, Lynda M; Rotter, Jerome I; Silbernagel, Guenther; Smith, Jonathan D; Sotoodehnia, Nona; Stott, David J; Taylor, Kent D; Tomaschitz, Andreas; Tsunoda, Tatsuhiko; Uitterlinden, Andre G; Van Wagoner, David R; Völker, Uwe; Völzke, Henry; Murabito, Joanne M; Sinner, Moritz F; Gudnason, Vilmundur; Felix, Stephan B; März, Winfried; Chung, Mina; Albert, Christine M; Stricker, Bruno H; Tanaka, Toshihiro; Heckbert, Susan R; Jukema, J Wouter; Alonso, Alvaro; Benjamin, Emelia J; Ellinor, Patrick T

2014-04-01

This study sought to identify nonredundant atrial fibrillation (AF) genetic susceptibility signals and examine their cumulative relations with AF risk. AF-associated loci span broad genomic regions that may contain multiple susceptibility signals. Whether multiple signals exist at AF loci has not been systematically explored. We performed association testing conditioned on the most significant, independently associated genetic markers at 9 established AF loci using 2 complementary techniques in 64,683 individuals of European ancestry (3,869 incident and 3,302 prevalent AF cases). Genetic risk scores were created and tested for association with AF in Europeans and an independent sample of 11,309 individuals of Japanese ancestry (7,916 prevalent AF cases). We observed at least 4 distinct AF susceptibility signals on chromosome 4q25 upstream of PITX2, but not at the remaining 8 AF loci. A multilocus score comprised 12 genetic markers demonstrated an estimated 5-fold gradient in AF risk. We observed a similar spectrum of risk associated with these markers in Japanese. Regions containing AF signals on chromosome 4q25 displayed a greater degree of evolutionary conservation than the remainder of the locus, suggesting that they may tag regulatory elements. The chromosome 4q25 AF locus is architecturally complex and harbors at least 4 AF susceptibility signals in individuals of European ancestry. Similar polygenic AF susceptibility exists between Europeans and Japanese. Future work is necessary to identify causal variants, determine mechanisms by which associated loci predispose to AF, and explore whether AF susceptibility signals classify individuals at risk for AF and related morbidity. Copyright © 2014 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Homologous Recombination between Genetically Divergent Campylobacter fetus Lineages Supports Host-Associated Speciation

Science.gov (United States)

Duim, Birgitta; van der Graaf-van Bloois, Linda; Wagenaar, Jaap A; Zomer, Aldert L

2018-01-01

Abstract Homologous recombination is a major driver of bacterial speciation. Genetic divergence and host association are important factors influencing homologous recombination. Here, we study these factors for Campylobacter fetus, which shows a distinct intraspecific host dichotomy. Campylobacter fetus subspecies fetus (Cff) and venerealis are associated with mammals, whereas C. fetus subsp. testudinum (Cft) is associated with reptiles. Recombination between these genetically divergent C. fetus lineages is extremely rare. Previously it was impossible to show whether this barrier to recombination was determined by the differential host preferences, by the genetic divergence between both lineages or by other factors influencing recombination, such as restriction-modification, CRISPR/Cas, and transformation systems. Fortuitously, a distinct C. fetus lineage (ST69) was found, which was highly related to mammal-associated C. fetus, yet isolated from a chelonian. The whole genome sequences of two C. fetus ST69 isolates were compared with those of mammal- and reptile-associated C. fetus strains for phylogenetic and recombination analysis. In total, 5.1–5.5% of the core genome of both ST69 isolates showed signs of recombination. Of the predicted recombination regions, 80.4% were most closely related to Cft, 14.3% to Cff, and 5.6% to C. iguaniorum. Recombination from C. fetus ST69 to Cft was also detected, but to a lesser extent and only in chelonian-associated Cft strains. This study shows that despite substantial genetic divergence no absolute barrier to homologous recombination exists between two distinct C. fetus lineages when occurring in the same host type, which provides valuable insights in bacterial speciation and evolution. PMID:29608720

Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry : A genome-wide association study

NARCIS (Netherlands)

Allen, Richard J; Porte, Joanne; Braybrooke, Rebecca; Flores, Carlos; Fingerlin, Tasha E; Oldham, Justin M; Guillen-Guio, Beatriz; Ma, Shwu-Fan; Okamoto, Tsukasa; John, Alison E; Obeidat, Ma'en; Yang, Ivana V; Henry, Amanda; Hubbard, Richard B; Navaratnam, Vidya; Saini, Gauri; Thompson, Norma; Booth, Helen L; Hart, Simon P; Hill, Mike R; Hirani, Nik; Maher, Toby M; McAnulty, Robin J; Millar, Ann B; Molyneaux, Philip L; Parfrey, Helen; Rassl, Doris M; Whyte, Moira K B; Fahy, William A; Marshall, Richard P; Oballa, Eunice; Bossé, Yohan; Nickle, David C; Sin, Don D; Timens, Wim; Shrine, Nick; Sayers, Ian; Hall, Ian P; Noth, Imre; Schwartz, David A; Tobin, Martin D; Wain, Louise V; Jenkins, R Gisli

2017-01-01

Background: Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified a significant genetic risk associated with the development of IPF; however, mechanisms by which genetic risk factors promote

No increase in autism-associated genetic events in children conceived by assisted reproduction.

Science.gov (United States)

Ackerman, Sean; Wenegrat, Julia; Rettew, David; Althoff, Robert; Bernier, Raphael

2014-08-01

To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction. Case control study using genetics data. Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection. 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available. None. Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally. No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction. This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

Science.gov (United States)

Broce, Iris; Karch, Celeste M; Wen, Natalie; Fan, Chun C; Wang, Yunpeng; Tan, Chin Hong; Kouri, Naomi; Ross, Owen A; Höglinger, Günter U; Muller, Ulrich; Hardy, John; Momeni, Parastoo; Hess, Christopher P; Dillon, William P; Miller, Zachary A; Bonham, Luke W; Rabinovici, Gil D; Rosen, Howard J; Schellenberg, Gerard D; Franke, Andre; Karlsen, Tom H; Veldink, Jan H; Ferrari, Raffaele; Yokoyama, Jennifer S; Miller, Bruce L; Andreassen, Ole A; Dale, Anders M; Desikan, Rahul S; Sugrue, Leo P

2018-01-01

Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold). For FTD, at a conjunction false discovery rate enriched in microglia/macrophages compared to other central nervous system cell types. The main study limitation is that the results represent only clinically diagnosed individuals. Also, given the complex interconnectedness of the HLA region, we were not able to define the specific gene or genes on Chr 6 responsible for our pleiotropic signal. We

17 CFR 210.8-03 - Interim financial statements.

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Interim financial statements... AND CONTENT OF AND REQUIREMENTS FOR FINANCIAL STATEMENTS, SECURITIES ACT OF 1933, SECURITIES EXCHANGE... ADVISERS ACT OF 1940, AND ENERGY POLICY AND CONSERVATION ACT OF 1975 Article 8 Financial Statements of...

Options for the interim storage of spent fuel

International Nuclear Information System (INIS)

Kromar, M.; Kurincic, B.

1995-01-01

Different concepts for the interim storage of spent fuel arising from operation of a NPP are discussed. We considered at reactor as well as away from reactor storage options. Included are enhancements of existing storage capabilities and construction of a new wet or dry storage facility. (author)

Glass packages in interim storage

International Nuclear Information System (INIS)

Jacquet-Francillon, N.

1994-10-01

This report summarize the current state of knowledge concerning the behavior of type C waste packages consisting of vitrified high-level solutions produced by reprocessing spent fuel. The composition and the physical and chemical properties of the feed solutions are reviewed, and the vitrification process is described. Sodium alumino-borosilicate glass compositions are generally employed - the glass used at la Hague for LWR fuel solutions, for example, contains 45 % SiO 2 . The major physical, chemical, mechanical and thermal properties of the glass are reviewed. In order to allow their thermal power to diminish, the 3630 glass packages produced (as of January 1993) in the vitrification facilities at Marcoule and La Hague are placed in interim storage for several decades. The actual interim storage period has not been defined, as it is closely related to the concept and organization selected for the final destination of the packages: a geological repository. The glass behavior under irradiation is described. Considerable basic and applied research has been conducted to assess the aqueous leaching behavior of nuclear containment glass. The effects of various repository parameters (temperature, flow rate, nature of the environmental materials) have been investigated. The experimental findings have been used to specify a model describing the kinetics of aqueous corrosion of the glass. More generally all the ''source term'' models developed in France by the CEA or by ANDRA are summarized. (author). 152 refs., 33 figs

Replacement of a hopeless maxillary central incisor: a technique for the fabrication of an immediate implant-supported interim restoration.

Science.gov (United States)

Graiff, Lorenzo; Vigolo, Paolo

2012-04-01

Placement of a dental implant and an interim restoration in the esthetic zone immediately following tooth extraction is now a common procedure. However, in such clinical situations, the fabrication of an appropriate interim restoration may be challenging. The aim of this article is to present a technique for modifying the extracted tooth so it can be used as an implant-supported interim restoration.

Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.

Science.gov (United States)

Joslyn, Geoff; Brush, Gerry; Robertson, Margaret; Smith, Tom L; Kalmijn, Jelger; Schuckit, Marc; White, Raymond L

2008-12-23

As with other genetically complex common psychiatric and medical conditions, multiple genetic and environmental components contribute to alcohol use disorders (AUDs), which can confound attempts to identify genetic components. Intermediate phenotypes are often more closely correlated with underlying biology and have often proven invaluable in genetic studies. Level of response (LR) to alcohol is an intermediate phenotype for AUDs, and individuals with a low LR are at increased risk. A high rate of concurrent alcohol and nicotine use and dependence suggests that these conditions may share biochemical and genetic mechanisms. Genetic association studies indicate that a genetic locus, which includes the CHRNA5-CHRNA3-CHRNB4 gene cluster, plays a role in nicotine consumption and dependence. Genetic association with alcohol dependence was also recently shown. We show here that two of the markers from the nicotine studies also show an association (multiple testing corrected P a sample of 367 siblings. Additional markers in the region were analyzed and shown to be located in a 250-kb expanse of high linkage disequilibrium containing three additional genes. These findings indicate that LR intermediate phenotypes have utility in genetic approaches to AUDs and will prove valuable in the identification of other genetic loci conferring susceptibility to AUDs.

Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability

Directory of Open Access Journals (Sweden)

Patrick Borel

2017-03-01

Full Text Available Blood concentration of vitamin A (VA, which is present as different molecules, i.e., mainly retinol and provitamin A carotenoids, plus retinyl esters in the postprandial period after a VA-containing meal, is affected by numerous factors: dietary VA intake, VA absorption efficiency, efficiency of provitamin A carotenoid conversion to VA, VA tissue uptake, etc. Most of these factors are in turn modulated by genetic variations in genes encoding proteins involved in VA metabolism. Genome-wide association studies (GWAS and candidate gene association studies have identified single nucleotide polymorphisms (SNPs associated with blood concentrations of retinol and β-carotene, as well as with β-carotene bioavailability. These genetic variations likely explain, at least in part, interindividual variability in VA status and in VA bioavailability. However, much work remains to be done to identify all of the SNPs involved in VA status and bioavailability and to assess the possible involvement of other kinds of genetic variations, e.g., copy number variants and insertions/deletions, in these phenotypes. Yet, the potential usefulness of this area of research is exciting regarding the proposition of more personalized dietary recommendations in VA, particularly in populations at risk of VA deficiency.

An efficient Bayesian meta-analysis approach for studying cross-phenotype genetic associations.

Directory of Open Access Journals (Sweden)

Arunabha Majumdar

2018-02-01

Full Text Available Simultaneous analysis of genetic associations with multiple phenotypes may reveal shared genetic susceptibility across traits (pleiotropy. For a locus exhibiting overall pleiotropy, it is important to identify which specific traits underlie this association. We propose a Bayesian meta-analysis approach (termed CPBayes that uses summary-level data across multiple phenotypes to simultaneously measure the evidence of aggregate-level pleiotropic association and estimate an optimal subset of traits associated with the risk locus. This method uses a unified Bayesian statistical framework based on a spike and slab prior. CPBayes performs a fully Bayesian analysis by employing the Markov Chain Monte Carlo (MCMC technique Gibbs sampling. It takes into account heterogeneity in the size and direction of the genetic effects across traits. It can be applied to both cohort data and separate studies of multiple traits having overlapping or non-overlapping subjects. Simulations show that CPBayes can produce higher accuracy in the selection of associated traits underlying a pleiotropic signal than the subset-based meta-analysis ASSET. We used CPBayes to undertake a genome-wide pleiotropic association study of 22 traits in the large Kaiser GERA cohort and detected six independent pleiotropic loci associated with at least two phenotypes. This includes a locus at chromosomal region 1q24.2 which exhibits an association simultaneously with the risk of five different diseases: Dermatophytosis, Hemorrhoids, Iron Deficiency, Osteoporosis and Peripheral Vascular Disease. We provide an R-package 'CPBayes' implementing the proposed method.

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Science.gov (United States)

Reis, Linda M; Semina, Elena V

2015-06-01

The human eye is a complex organ whose development requires extraordinary coordination of developmental processes. The conservation of ocular developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. In this review, we summarize current success in identification of genes responsible for microphthalmia, anophthalmia, and coloboma (MAC) phenotypes, which are associated with early defects in embryonic eye development. Studies in animal models for the orthologous genes identified overlapping phenotypes for most factors, confirming the conservation of their function in vertebrate development. These animal models allow for further investigation of the mechanisms of MAC, integration of various identified genes into common developmental pathways and finally, provide an avenue for the development and testing of therapeutic interventions. © 2015 Wiley Periodicals, Inc.

Clinical and genetic factors associated with suicide in mood disorder patients.

Science.gov (United States)

Antypa, Niki; Souery, Daniel; Tomasini, Mario; Albani, Diego; Fusco, Federica; Mendlewicz, Julien; Serretti, Alessandro

2016-03-01

Suicidality is a continuum ranging from ideation to attempted and completed suicide, with a complex etiology involving both genetic heritability and environmental factors. The majority of suicide events occur in the context of psychiatric conditions, preeminently major depression and bipolar disorder. The present study investigates clinical factors associated with suicide in a sample of 553 mood disorder patients, recruited within the 'Psy Pluriel' center, Centre Européen de Psychologie Médicale, and the Department of Psychiatry of Erasme Hospital (Brussels). Furthermore, genetic association analyses examining polymorphisms within COMT, BDNF, MAPK1 and CREB1 genes were performed in a subsample of 259 bipolar patients. The presence or absence of a previous suicide attempt and of current suicide risk were assessed. A positive association with suicide attempt was reported for younger patients, females, lower educated, smokers, those with higher scores on depressive symptoms and higher functional disability and those with anxiety comorbidity and familial history of suicidality in first- and second-degree relatives. Anxiety disorder comorbidity was the stronger predictor of current suicide risk. No associations were found with polymorphisms within COMT and BDNF genes, whereas significant associations were found with variations in rs13515 (MAPK1) and rs6740584 (CREB1) polymorphisms. From a clinical perspective, our study proposes several clinical characteristics, such as increased depressive symptomatology, anxiety comorbidity, functional disability and family history of suicidality, as correlates associated with suicide. Genetic risk variants in MAPK1 and CREB1 genes might be involved in a dysregulation of inflammatory and neuroplasticity pathways and are worthy of future investigation.

Fusion Breeder Program interim report

International Nuclear Information System (INIS)

Moir, R.; Lee, J.D.; Neef, W.

1982-01-01

This interim report for the FY82 Fusion Breeder Program covers work performed during the scoping phase of the study, December, 1981-February 1982. The goals for the FY82 study are the identification and development of a reference blanket concept using the fission suppression concept and the definition of a development plan to further the fusion breeder application. The context of the study is the tandem mirror reactor, but emphasis is placed upon blanket engineering. A tokamak driver and blanket concept will be selected and studied in more detail during FY83

Insight into the genetic components of community genetics: QTL mapping of insect association in a fast-growing forest tree.

Directory of Open Access Journals (Sweden)

Jennifer DeWoody

Full Text Available Identifying genetic sequences underlying insect associations on forest trees will improve the understanding of community genetics on a broad scale. We tested for genomic regions associated with insects in hybrid poplar using quantitative trait loci (QTL analyses conducted on data from a common garden experiment. The F2 offspring of a hybrid poplar (Populus trichocarpa x P. deltoides cross were assessed for seven categories of insect leaf damage at two time points, June and August. Positive and negative correlations were detected among damage categories and between sampling times. For example, sap suckers on leaves in June were positively correlated with sap suckers on leaves (P<0.001 but negatively correlated with skeletonizer damage (P<0.01 in August. The seven forms of leaf damage were used as a proxy for seven functional groups of insect species. Significant variation in insect association occurred among the hybrid offspring, including transgressive segregation of susceptibility to damage. NMDS analyses revealed significant variation and modest broad-sense heritability in insect community structure among genets. QTL analyses identified 14 genomic regions across 9 linkage groups that correlated with insect association. We used three genomics tools to test for putative mechanisms underlying the QTL. First, shikimate-phenylpropanoid pathway genes co-located to 9 of the 13 QTL tested, consistent with the role of phenolic glycosides as defensive compounds. Second, two insect association QTL corresponded to genomic hotspots for leaf trait QTL as identified in previous studies, indicating that, in addition to biochemical attributes, leaf morphology may influence insect preference. Third, network analyses identified categories of gene models over-represented in QTL for certain damage types, providing direction for future functional studies. These results provide insight into the genetic components involved in insect community structure in a fast

How American Nurses Association Code of Ethics informs genetic/genomic nursing.

Science.gov (United States)

Tluczek, Audrey; Twal, Marie E; Beamer, Laura Curr; Burton, Candace W; Darmofal, Leslie; Kracun, Mary; Zanni, Karen L; Turner, Martha

2018-01-01

Members of the Ethics and Public Policy Committee of the International Society of Nurses in Genetics prepared this article to assist nurses in interpreting the American Nurses Association (2015) Code of Ethics for Nurses with Interpretive Statements (Code) within the context of genetics/genomics. The Code explicates the nursing profession's norms and responsibilities in managing ethical issues. The nearly ubiquitous application of genetic/genomic technologies in healthcare poses unique ethical challenges for nursing. Therefore, authors conducted literature searches that drew from various professional resources to elucidate implications of the code in genetic/genomic nursing practice, education, research, and public policy. We contend that the revised Code coupled with the application of genomic technologies to healthcare creates moral obligations for nurses to continually refresh their knowledge and capacities to translate genetic/genomic research into evidence-based practice, assure the ethical conduct of scientific inquiry, and continually develop or revise national/international guidelines that protect the rights of individuals and populations within the context of genetics/genomics. Thus, nurses have an ethical responsibility to remain knowledgeable about advances in genetics/genomics and incorporate emergent evidence into their work.

Genetic diversity of the Acropora-associated hydrozoans: new insight from the Red Sea

KAUST Repository

Maggioni, Davide

2017-01-21

To date, four nominal species and several other unidentified species of Zanclea hydrozoans are known to live symbiotically with scleractinians, and recent surveys reported this association also in the Red Sea. Previous molecular studies showed that each coral genus involved in this association hosts only one species or molecular clade of Zanclea, with the only exception being the genus Acropora, which hosts at least two Zanclea species. Moreover, some of the detected genetic lineages were morphologically undistinguishable in the polyp stage, suggesting the presence of cryptic species. In this study, we investigated the morphology and genetic diversity of Acropora-associated Zanclea specimens collected in previous studies in Egypt and Israel, as well as new samples collected in Saudi Arabia. Based on the current data, all the analysed samples were morphologically identical to Zanclea gallii, a species associated with Acropora corals from the Maldives. However, molecular analyses separated the samples collected in the Red Sea from all other coral-associated hydroids. Therefore, phylogenetic reconstructions, haplotype networks, genetic distance analyses and distribution data allowed us to identify a previously unknown cryptic species of Acropora-associated hydroid, here named Zanclea gallii IIa, following a recently proposed molecular nomenclature.

Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium

DEFF Research Database (Denmark)

Pearce, C L; Near, A M; Van Den Berg, D J

2009-01-01

The search for genetic variants associated with ovarian cancer risk has focused on pathways including sex steroid hormones, DNA repair, and cell cycle control. The Ovarian Cancer Association Consortium (OCAC) identified 10 single-nucleotide polymorphisms (SNPs) in genes in these pathways, which had...... been genotyped by Consortium members and a pooled analysis of these data was conducted. Three of the 10 SNPs showed evidence of an association with ovarian cancer at P... and risk of ovarian cancer suggests that this pathway may be involved in ovarian carcinogenesis. Additional follow-up is warranted....

An Adaptive Genetic Association Test Using Double Kernel Machines.

Science.gov (United States)

Zhan, Xiang; Epstein, Michael P; Ghosh, Debashis

2015-10-01

Recently, gene set-based approaches have become very popular in gene expression profiling studies for assessing how genetic variants are related to disease outcomes. Since most genes are not differentially expressed, existing pathway tests considering all genes within a pathway suffer from considerable noise and power loss. Moreover, for a differentially expressed pathway, it is of interest to select important genes that drive the effect of the pathway. In this article, we propose an adaptive association test using double kernel machines (DKM), which can both select important genes within the pathway as well as test for the overall genetic pathway effect. This DKM procedure first uses the garrote kernel machines (GKM) test for the purposes of subset selection and then the least squares kernel machine (LSKM) test for testing the effect of the subset of genes. An appealing feature of the kernel machine framework is that it can provide a flexible and unified method for multi-dimensional modeling of the genetic pathway effect allowing for both parametric and nonparametric components. This DKM approach is illustrated with application to simulated data as well as to data from a neuroimaging genetics study.

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

DEFF Research Database (Denmark)

Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N

2015-01-01

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address...... this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested...... that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We...

Effectiveness of interim remedial actions at the Niagara Falls Storage Site

International Nuclear Information System (INIS)

Devgun, J.S.; Beskid, N.J.; Seay, W.M.; McNamee, E.

1990-01-01

There are 190,000 m 3 of contaminated soils, wastes, and residues stored at the Niagara Falls Storage Site (NFSS). The residues have a volume of 18,000 m 3 and contain about 1,930 Ci of 226 Ra, which accounts for most of the radioactivity. Since 1980, actions have been taken to minimize potential radiological risks and prevent radionuclide migration. Interim actions included capping vents, sealing pipes, relocating the perimeter fence (to limit radon risk), transferring and consolidating wastes, upgrading storage buildings, constructing a clay cutoff wall (to limit potential ground-water transport of contaminants), treating and releasing contaminated water, using a synthetic liner, and using an interim clay cap. An interim waste containment facility was completed in 1986. Environmental monitoring showed a decrease in radon concentrations and in external gamma radiation from 1982 to 1986; levels have been stable since 1986. Uranium and radium concentrations in surface water have decreased; very low concentrations have been detected in stream sediments, and concentrations in ground water have remained stable. Recent monitoring showed that NFSS is in compliance with the U.S. Department of Energy's (DOE's) radiation protection standards

German Approach for the Transport of Spent Fuel Packages after Interim Storage

International Nuclear Information System (INIS)

Wille, Frank; Wolff, Dietmar; Droste, Bernhard; Voelzke, Holger

2014-01-01

In Germany the concept of dry interim storage of spent nuclear fuel in dual purpose metal casks is implemented, currently for periods of up to 40 years. The casks being used have an approved package design in accordance with the international transport regulations. The license for dry storage is granted on the German Atomic Energy Act with respect to the recently (in 2012) revised 'Guidelines for dry cask storage of spent nuclear fuel and heat-generating waste' by the German Waste management Commission (ESK) which are very similar to the former RSK (reactor safety commission) guidelines. For transport on public routes between or after long term interim storage periods, it has to be ensured that the transport and storage casks fulfil the specifications of the transport approval or other sufficient properties which satisfy the proofs for the compliance of the safety objectives at that time. In recent years the validation period of transport approval certificates for manufactured, loaded and stored packages were discussed among authorities and applicants. A case dependent system of 3, 5 and 10 years was established. There are consequences for the safety cases in the Package Design Safety Report including evaluation of long term behavior of components and specific operating procedures of the package. Present research and knowledge concerning the long term behavior of transport and storage cask components have to be consulted as well as experiences from interim cask storage operations. Challenges in the safety assessment are e.g. the behavior of aged metal and elastomeric seals under IAEA test conditions to ensure that the results of drop tests can be transferred to the compliance of the safety objectives at the time of transport after the interim storage period (aged package). Assessment methods for the material compatibility, the behavior of fuel assemblies and the aging behavior of shielding parts are issues as well. This paper describes the state

105-C Reactor interim safe storage project technology integration plan

International Nuclear Information System (INIS)

Pulsford, S.K.

1997-01-01

The 105-C Reactor Interim Safe Storage Project Technology Integration Plan involves the decontamination, dismantlement, and interim safe storage of a surplus production reactor. A major goal is to identify and demonstrate new and innovative D and D technologies that will reduce costs, shorten schedules, enhance safety, and have the potential for general use across the RL complex. Innovative technologies are to be demonstrated in the following areas: Characterization; Decontamination; Waste Disposition; Dismantlement, Segmentation, and Demolition; Facility Stabilization; and Health and Safety. The evaluation and ranking of innovative technologies has been completed. Demonstrations will be selected from the ranked technologies according to priority. The contractor team members will review and evaluate the demonstration performances and make final recommendations to DOE

Temperament and character associated with depressive symptoms in women: analysis of two genetically informative samples.

Science.gov (United States)

Yuh, Jongil; Neiderhiser, Jenae M; Lichtenstein, Paul; Hansson, Kjell; Cederblad, Marianne; Elthammer, Olle; Reiss, David

2009-09-01

Although previous research has explored associations between personality and depressive symptoms, a limited number of studies have assessed the extent to which genetic and environmental influences explain the association. This study investigated how temperament and character were associated with depressive symptoms in 131 pairs of twin and sibling women in early adulthood, as well as 326 pairs of twin women in middle adulthood. Results indicated that genetic influences accounted for a moderate to substantial percentage of the association between these personality features and depressive symptoms, emphasizing the role of genetic influences. Nonshared environmental influences made important contributions to the association between character and depressive symptoms, particularly in the sample of middle-aged twin women. These findings suggest that unique social experiences and relationships with a partner in adulthood may play an important role in these associations between character and depressive symptoms.

Single-Shell Tank (SST) Interim Stabilization Project Plan

International Nuclear Information System (INIS)

VLADIMIROFF, D.T.; BOYLES, V.C.

2000-01-01

This project plan establishes the management framework for the conduct of the CHG Single-Shell Tank Interim Stabilization completion program. Specifically, this plan defines the mission needs and requirements; technical objectives and approach; organization structure, roles, responsibilities, and interfaces; and operational methods. This plan serves as the project executional baseline

Interim report on long range plan for nuclear physics

International Nuclear Information System (INIS)

Anon.

1995-01-01

The interim report on the updated NSAC Long Range Plan for Nuclear Physics will be presented to the community for discussion and comment before submission to the funding agencies. The presentation will be coordinated by E. Moniz chair of NSAC

Introns Protect Eukaryotic Genomes from Transcription-Associated Genetic Instability.

Science.gov (United States)

Bonnet, Amandine; Grosso, Ana R; Elkaoutari, Abdessamad; Coleno, Emeline; Presle, Adrien; Sridhara, Sreerama C; Janbon, Guilhem; Géli, Vincent; de Almeida, Sérgio F; Palancade, Benoit

2017-08-17

Transcription is a source of genetic instability that can notably result from the formation of genotoxic DNA:RNA hybrids, or R-loops, between the nascent mRNA and its template. Here we report an unexpected function for introns in counteracting R-loop accumulation in eukaryotic genomes. Deletion of endogenous introns increases R-loop formation, while insertion of an intron into an intronless gene suppresses R-loop accumulation and its deleterious impact on transcription and recombination in yeast. Recruitment of the spliceosome onto the mRNA, but not splicing per se, is shown to be critical to attenuate R-loop formation and transcription-associated genetic instability. Genome-wide analyses in a number of distant species differing in their intron content, including human, further revealed that intron-containing genes and the intron-richest genomes are best protected against R-loop accumulation and subsequent genetic instability. Our results thereby provide a possible rationale for the conservation of introns throughout the eukaryotic lineage. Copyright © 2017 Elsevier Inc. All rights reserved.

Genetic variation associated with differential educational attainment in adults has anticipated associations with school performance in children

NARCIS (Netherlands)

Ward, M.E.; McMahon, G.; St. Pourcain, B.; Evans, D.M.; Rietveld, C.A.; Benjamin, D.J.; Koellinger, P.D.; Cesarini, D.; Davey Smith, G.; Timpson, N.J.

2014-01-01

Genome-wide association study results have yielded evidence for the association of common genetic variants with crude measures of completed educational attainment in adults. Whilst informative, these results do not inform as to the mechanism of these effects or their presence at earlier ages and

Design requirements document for Project W-465, immobilized low-activity waste interim storage

International Nuclear Information System (INIS)

Burbank, D.A.

1998-01-01

The scope of this Design Requirements Document (DRD) is to identify the functions and associated requirements that must be performed to accept, transport, handle, and store immobilized low-activity waste (ILAW) produced by the privatized Tank Waste Remediation System (TWRS) treatment contractors. The functional and performance requirements in this document provide the basis for the conceptual design of the TWRS ILAW Interim Storage facility project and provides traceability from the program level requirements to the project design activity. Technical and programmatic risk associated with the TWRS planning basis are discussed in the Tank Waste Remediation System Decisions and Risk Assessment (Johnson 1994). The design requirements provided in this document will be augmented by additional detailed design data documented by the project

Common genetic variation and novel loci associated with volumetric mammographic density.

Science.gov (United States)

Brand, Judith S; Humphreys, Keith; Li, Jingmei; Karlsson, Robert; Hall, Per; Czene, Kamila

2018-04-17

Mammographic density (MD) is a strong and heritable intermediate phenotype of breast cancer, but much of its genetic variation remains unexplained. We conducted a genetic association study of volumetric MD in a Swedish mammography screening cohort (n = 9498) to identify novel MD loci. Associations with volumetric MD phenotypes (percent dense volume, absolute dense volume, and absolute nondense volume) were estimated using linear regression adjusting for age, body mass index, menopausal status, and six principal components. We also estimated the proportion of MD variance explained by additive contributions from single-nucleotide polymorphisms (SNP-based heritability [h 2 SNP ]) in 4948 participants of the cohort. In total, three novel MD loci were identified (at P associated with breast cancer in available meta-analysis data including 122,977 breast cancer cases and 105,974 control subjects (P < 0.05). h 2 SNP (SE) estimates for percent dense, absolute dense, and nondense volume were 0.29 (0.07), 0.31 (0.07), and 0.25 (0.07), respectively. Corresponding ratios of h 2 SNP to previously observed narrow-sense h 2 estimates in the same cohort were 0.46, 0.72, and 0.41, respectively. These findings provide new insights into the genetic basis of MD and biological mechanisms linking MD to breast cancer risk. Apart from identifying three novel loci, we demonstrate that at least 25% of the MD variance is explained by common genetic variation with h 2 SNP /h 2 ratios varying between dense and nondense MD components.

Unraveling the genetic etiology of adult antisocial behavior: a genome-wide association study.

Directory of Open Access Journals (Sweden)

Jorim J Tielbeek

Full Text Available Crime poses a major burden for society. The heterogeneous nature of criminal behavior makes it difficult to unravel its causes. Relatively little research has been conducted on the genetic influences of criminal behavior. The few twin and adoption studies that have been undertaken suggest that about half of the variance in antisocial behavior can be explained by genetic factors. In order to identify the specific common genetic variants underlying this behavior, we conduct the first genome-wide association study (GWAS on adult antisocial behavior. Our sample comprised a community sample of 4816 individuals who had completed a self-report questionnaire. No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10(-5 was DYRK1A, a gene previously related to abnormal brain development and mental retardation. Future studies should use larger, more homogeneous samples to disentangle the etiology of antisocial behavior. Biosocial criminological research allows a more empirically grounded understanding of criminal behavior, which could ultimately inform and improve current treatment strategies.

Tank Farm Interim Surface Barrier Materials And Runoff Alternatives Study

International Nuclear Information System (INIS)

Holm, M.J.

2009-01-01

This report identifies candidate materials and concepts for interim surface barriers in the single-shell tank farms. An analysis of these materials for application to the TY tank farm is also provided.

Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study.

Directory of Open Access Journals (Sweden)

Binod Neupane

Full Text Available In a meta-analysis with multiple end points of interests that are correlated between or within studies, multivariate approach to meta-analysis has a potential to produce more precise estimates of effects by exploiting the correlation structure between end points. However, under random-effects assumption the multivariate estimation is more complex (as it involves estimation of more parameters simultaneously than univariate estimation, and sometimes can produce unrealistic parameter estimates. Usefulness of multivariate approach to meta-analysis of the effects of a genetic variant on two or more correlated traits is not well understood in the area of genetic association studies. In such studies, genetic variants are expected to roughly maintain Hardy-Weinberg equilibrium within studies, and also their effects on complex traits are generally very small to modest and could be heterogeneous across studies for genuine reasons. We carried out extensive simulation to explore the comparative performance of multivariate approach with most commonly used univariate inverse-variance weighted approach under random-effects assumption in various realistic meta-analytic scenarios of genetic association studies of correlated end points. We evaluated the performance with respect to relative mean bias percentage, and root mean square error (RMSE of the estimate and coverage probability of corresponding 95% confidence interval of the effect for each end point. Our simulation results suggest that multivariate approach performs similarly or better than univariate method when correlations between end points within or between studies are at least moderate and between-study variation is similar or larger than average within-study variation for meta-analyses of 10 or more genetic studies. Multivariate approach produces estimates with smaller bias and RMSE especially for the end point that has randomly or informatively missing summary data in some individual studies, when

Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank.

Science.gov (United States)

Cortes, Adrian; Dendrou, Calliope A; Motyer, Allan; Jostins, Luke; Vukcevic, Damjan; Dilthey, Alexander; Donnelly, Peter; Leslie, Stephen; Fugger, Lars; McVean, Gil

2017-09-01

Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics. Our method displays a more than 20% increase in power to detect genetic effects over other approaches and identifies new associations between classical human leukocyte antigen (HLA) alleles and common immune-mediated diseases (IMDs). By applying the approach to genetic risk scores (GRSs), we show the extent of genetic sharing among IMDs and expose differences in disease perception or diagnosis with potential clinical implications.

Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.

Science.gov (United States)

Hibar, Derrek P; Stein, Jason L; Ryles, April B; Kohannim, Omid; Jahanshad, Neda; Medland, Sarah E; Hansell, Narelle K; McMahon, Katie L; de Zubicaray, Greig I; Montgomery, Grant W; Martin, Nicholas G; Wright, Margaret J; Saykin, Andrew J; Jack, Clifford R; Weiner, Michael W; Toga, Arthur W; Thompson, Paul M

2013-06-01

Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson's disease, schizophrenia, and ADHD. Here we performed genome-wide searches to discover common genetic variants associated with differences in lentiform nucleus volume in human populations. We assessed structural MRI scans of the brain in two large genotyped samples: the Alzheimer's Disease Neuroimaging Initiative (ADNI; N = 706) and the Queensland Twin Imaging Study (QTIM; N = 639). Statistics of association from each cohort were combined meta-analytically using a fixed-effects model to boost power and to reduce the prevalence of false positive findings. We identified a number of associations in and around the flavin-containing monooxygenase (FMO) gene cluster. The most highly associated SNP, rs1795240, was located in the FMO3 gene; after meta-analysis, it showed genome-wide significant evidence of association with lentiform nucleus volume (P MA  = 4.79 × 10(-8)). This commonly-carried genetic variant accounted for 2.68 % and 0.84 % of the trait variability in the ADNI and QTIM samples, respectively, even though the QTIM sample was on average 50 years younger. Pathway enrichment analysis revealed significant contributions of this gene to the cytochrome P450 pathway, which is involved in metabolizing numerous therapeutic drugs for pain, seizures, mania, depression, anxiety, and psychosis. The genetic variants we identified provide replicated, genome-wide significant evidence for the FMO gene cluster's involvement in lentiform nucleus volume differences in human populations.

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.

Directory of Open Access Journals (Sweden)

Angelo Scuteri

2007-07-01

Full Text Available The obesity epidemic is responsible for a substantial economic burden in developed countries and is a major risk factor for type 2 diabetes and cardiovascular disease. The disease is the result not only of several environmental risk factors, but also of genetic predisposition. To take advantage of recent advances in gene-mapping technology, we executed a genome-wide association scan to identify genetic variants associated with obesity-related quantitative traits in the genetically isolated population of Sardinia. Initial analysis suggested that several SNPs in the FTO and PFKP genes were associated with increased BMI, hip circumference, and weight. Within the FTO gene, rs9930506 showed the strongest association with BMI (p = 8.6 x10(-7, hip circumference (p = 3.4 x 10(-8, and weight (p = 9.1 x 10(-7. In Sardinia, homozygotes for the rare "G" allele of this SNP (minor allele frequency = 0.46 were 1.3 BMI units heavier than homozygotes for the common "A" allele. Within the PFKP gene, rs6602024 showed very strong association with BMI (p = 4.9 x 10(-6. Homozygotes for the rare "A" allele of this SNP (minor allele frequency = 0.12 were 1.8 BMI units heavier than homozygotes for the common "G" allele. To replicate our findings, we genotyped these two SNPs in the GenNet study. In European Americans (N = 1,496 and in Hispanic Americans (N = 839, we replicated significant association between rs9930506 in the FTO gene and BMI (p-value for meta-analysis of European American and Hispanic American follow-up samples, p = 0.001, weight (p = 0.001, and hip circumference (p = 0.0005. We did not replicate association between rs6602024 and obesity-related traits in the GenNet sample, although we found that in European Americans, Hispanic Americans, and African Americans, homozygotes for the rare "A" allele were, on average, 1.0-3.0 BMI units heavier than homozygotes for the more common "G" allele. In summary, we have completed a whole genome-association scan for

Development of Accident Scenario for Interim Spent Fuel Storage Facility Based on Fukushima Accident

Energy Technology Data Exchange (ETDEWEB)

Lee, Dongjin; Choi, Kwangsoon; Yoon, Hyungjoon; Park, Jungsu [KEPCO-E and C, Yongin (Korea, Republic of)

2014-05-15

700 MTU of spent nuclear fuel is discharged from nuclear fleet every year and spent fuel storage is currently 70.9% full. The on-site wet type spent fuel storage pool of each NPP(nuclear power plants) in Korea will shortly exceed its storage limit. Backdrop, the Korean government has rolled out a plan to construct an interim spent fuel storage facility by 2024. However, the type of interim spent fuel storage facility has not been decided yet in detail. The Fukushima accident has resulted in more stringent requirements for nuclear facilities in case of beyond design basis accidents. Therefore, there has been growing demand for developing scenario on interim storage facility to prepare for beyond design basis accidents and conducting dose assessment based on the scenario to verify the safety of each type of storage.

Genetic determinants of cardiometabolic risk: a proposed model for phenotype association and interaction.

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2013-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes, and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus, it follows that the genetics of dyslipidemia, obesity, and nonalcoholic fatty liver disease are central in triggering progression of the syndrome to overt expression of disease traits and have become a key focus of interest for early detection and for designing prevention and treatments. To support the "birds' eye view" approach, we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacologic targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. Copyright © 2013 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Ad interim legal remedy in case of large projects

International Nuclear Information System (INIS)

Limberger, J.

1985-01-01

Action for ad interim judicial relief in response to large projects approved of by the authorities very frequently take several years until a decision is taken by the court. Experience has shown that this applies in particular to large projects such as the construction of nuclear power plants, large-size industrial plants, or airports. It has become regular practice by the authorities concerned to issue an order for immediate execution upon the plan approving decision and granting of licence for said projects, in accordance with section 80, sub-section (2), no.4 of the VwGO. The problems thus created with regard to interim legal remedy sought by the parties concerned are of great significance. The book in hand discusses the question as to whether the practice of the administrative authorities and the courts satisfies the requirements embodied in the law, to provide for efficient legal protection. (orig./HSCH) [de

Genetic dissection of memory for associative and non-associative learning in Caenorhabditis elegans.

Science.gov (United States)

Lau, H L; Timbers, T A; Mahmoud, R; Rankin, C H

2013-03-01

The distinction between non-associative and associative forms of learning has historically been based on the behavioral training paradigm. Through discovering the molecular mechanisms that mediate learning, we can develop a deeper understanding of the relationships between different forms of learning. Here, we genetically dissect short- and long-term memory for a non-associative form of learning, habituation and an associative form of learning, context conditioning for habituation, in the nematode Caenorhabditis elegans. In short-term chemosensory context conditioning for habituation, worms trained and tested in the presence of either a taste (sodium acetate) or smell (diacetyl) context cue show greater retention of habituation to tap stimuli when compared with animals trained and tested without a salient cue. Long-term memory for olfactory context conditioning was observed 24 h after a training procedure that does not normally induce 24 h memory. Like long-term habituation, this long-term memory was dependent on the transcription factor cyclic AMP-response element-binding protein. Worms with mutations in glr-1 [a non-N-methyl-d-aspartate (NMDA)-type glutamate receptor subunit] showed short-term but not long-term habituation or short- or long-term context conditioning. Worms with mutations in nmr-1 (an NMDA-receptor subunit) showed normal short- and long-term memory for habituation but did not show either short- or long-term context conditioning. Rescue of nmr-1 in the RIM interneurons rescued short- and long-term olfactory context conditioning leading to the hypothesis that these interneurons function to integrate information from chemosensory and mechanosensory systems for associative learning. © 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.

Efficient replication of over 180 genetic associations with self-reported medical data.

Science.gov (United States)

Tung, Joyce Y; Do, Chuong B; Hinds, David A; Kiefer, Amy K; Macpherson, J Michael; Chowdry, Arnab B; Francke, Uta; Naughton, Brian T; Mountain, Joanna L; Wojcicki, Anne; Eriksson, Nicholas

2011-01-01

While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.

49 CFR 37.169 - Interim requirements for over-the-road bus service operated by private entities.

Science.gov (United States)

2010-10-01

... of such devices, shall be permitted in the passenger compartment. When the bus is at rest at a stop... 49 Transportation 1 2010-10-01 2010-10-01 false Interim requirements for over-the-road bus service... Interim requirements for over-the-road bus service operated by private entities. (a) Private entities...

Acceptable TRU packaging for interim storage and/or terminal isolation: FY-1977 final report

International Nuclear Information System (INIS)

Doty, J.W.; Peterson, J.B.

1978-01-01

A program was conducted for the definition and demonstration of acceptable waste packages for defense transuranic waste for interim storage and terminal isolation. During FY-1977, a Contractor Questionnaire was used to gather pertinent data and to assess contractor concerns. This information was integrated into basic application data in the form of a checklist. Conceptual Container Design Specifications were developed by analyzing and evaluating the application data against Federal Regulations and interim/terminal storage constraints

Association of Genetic Risk for Schizophrenia With Nonparticipation Over Time in a Population-Based Cohort Study.

Science.gov (United States)

Martin, Joanna; Tilling, Kate; Hubbard, Leon; Stergiakouli, Evie; Thapar, Anita; Davey Smith, George; O'Donovan, Michael C; Zammit, Stanley

2016-06-15

Progress has recently been made in understanding the genetic basis of schizophrenia and other psychiatric disorders. Longitudinal studies are complicated by participant dropout, which could be related to the presence of psychiatric problems and associated genetic risk. We tested whether common genetic variants implicated in schizophrenia were associated with study nonparticipation among 7,867 children and 7,850 mothers from the Avon Longitudinal Study of Parents and Children (ALSPAC; 1991-2007), a longitudinal population cohort study. Higher polygenic risk scores for schizophrenia were consistently associated with noncompletion of questionnaires by study mothers and children and nonattendance at data collection throughout childhood and adolescence (ages 1-15 years). These associations persisted after adjustment for other potential correlates of nonparticipation. Results suggest that persons at higher genetic risk for schizophrenia are likely to be underrepresented in cohort studies, which will underestimate risk of this and related psychiatric, cognitive, and behavioral phenotypes in the population. Statistical power to detect associations with these phenotypes will be reduced, while analyses of schizophrenia-related phenotypes as outcomes may be biased by the nonrandom missingness of these phenotypes, even if multiple imputation is used. Similarly, in complete-case analyses, collider bias may affect associations between genetic risk and other factors associated with missingness. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health.

Provenance research: investigation of genetic diversity associated with geography

Science.gov (United States)

Robert Z. Callaham

1963-01-01

Provenance in forestry refers to the population of trees growing at n particular place of origin. Provenance research defines the genetic and environmental components of phenotypic variation associated with geographic source. Information on provenance is important in assuring sources of seed to give well-adapted, productive trees and in directing breeding of...

75 FR 7591 - Guidance on Recommended Interim Preliminary Remediation Goals for Dioxin in Soil at CERCLA and...

Science.gov (United States)

2010-02-22

... ENVIRONMENTAL PROTECTION AGENCY [EPA-HQ-SFUND-2009-0907; FRL-9114-6] RIN 2050-ZA05 Guidance on Recommended Interim Preliminary Remediation Goals for Dioxin in Soil at CERCLA and RCRA Sites; Extension of... Interim Preliminary Remediation Goals for Dioxin in Soil at Comprehensive Environmental Response...

Systems Genetics Analysis to Identify the Genetic Modulation of a Glaucoma-Associated Gene.

Science.gov (United States)

Chintalapudi, Sumana R; Jablonski, Monica M

2017-01-01

Loss of retinal ganglion cells (RGCs) is one of the hallmarks of retinal neurodegenerative diseases, glaucoma being one of the most common. Recently, γ-synuclein (SNCG) was shown to be highly expressed in the somas and axons of RGCs. In various mouse models of glaucoma, downregulation of Sncg gene expression correlates with RGC loss. To investigate the regulation of Sncg in RGCs, we used a systems genetics approach to identify a gene that modulates the expression of Sncg, followed by confirmatory studies in both healthy and diseased retinas. We found that chromosome 1 harbors an eQTL that modulates the expression of Sncg in the mouse retina and identified Pfdn2 as the candidate upstream modulator of Sncg expression. Downregulation of Pfdn2 in enriched RGCs causes a concomitant reduction in Sncg. In this chapter, we describe our strategy and methods for identifying and confirming a genetic modulation of a glaucoma-associated gene. A similar method can be applied to other genes expressed in other tissues.

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

Science.gov (United States)

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Individual shareholders’ understanding of the content of interim reports of South African listed retail companies

Directory of Open Access Journals (Sweden)

Johan GI Oberholster

2015-05-01

Full Text Available A number of studies conducted, and reports published, by international and local accounting bodies have found that the proliferation of disclosures in financial reports has hampered users’ understanding of these reports. The reports by accounting bodies also indicate that these users prefer more concise financial reports. These findings, in conjunction with a dearth of recent questionnaire-based research on whether individual shareholders understand the content of financial reports, resulted in this study on whether individual shareholders understand the content of interim reports. The study provides empirical proof that a sound knowledge of business, accounting and economic matters is a prerequisite for understanding interim reports in the case of individual shareholders. The results of the study indicate that individual shareholders have a limited understanding of the content of interim reports as a whole, and that a good knowledge of business and economic matters and of accounting results in an improved understanding of the content of interim reports. In particular, specialisation in accounting in undergraduate and postgraduate degrees, professional qualifications, and work experience in the financial field improve the understanding of individual shareholders.

Effect of Two Lipoprotein (a-Associated Genetic Variants on Plasminogen Levels and Fibrinolysis

Directory of Open Access Journals (Sweden)

Hong Wang

2016-11-01

Full Text Available Two genetic variants (rs3798220 and rs10455872 in the apolipoprotein (a gene (LPA have been implicated in cardiovascular disease (CVD, presumably through their association with lipoprotein (a [Lp(a] levels. While Lp(a is recognized as a lipoprotein with atherogenic and thrombogenic characteristics, it is unclear whether or not the two Lp(a-associated genetic variants are also associated with markers of thrombosis (i.e., plasminogen levels and fibrinolysis. In the present study, we genotyped the two genetic variants in 2919 subjects of the Old Order Amish (OOA and recruited 146 subjects according to the carrier and noncarrier status for rs3798220 and rs10455872, and also matched for gender and age. We measured plasma Lp(a and plasminogen levels in these subjects, and found that the concentrations of plasma Lp(a were 2.62- and 1.73-fold higher in minor allele carriers of rs3798220 and rs10455872, respectively, compared with noncarriers (P = 2.04 × 10−17 and P = 1.64 × 10−6, respectively. By contrast, there was no difference in plasminogen concentrations between carriers and noncarriers of rs3798220 and rs10455872. Furthermore, we observed no association between carrier status of rs3798220 or rs10455872 with clot lysis time. Finally, plasminogen mRNA expression in liver samples derived from 76 Caucasian subjects was not significantly different between carriers and noncarriers of these two genetic variants. Our results provide further insight into the mechanism of action behind two genetic variants previously implicated in CVD risk and show that these polymorphisms are not major modulating factors for plasma plasminogen levels and fibrinolysis.

Strategic Review of Medical Training and Career Structure Interim Report

OpenAIRE

Department of Health (Ireland)

2013-01-01

Click here to download Strategic Review of Medical Training and Career Structure Interim Report PDF 44kb Click here to download Strategic Review of Medical Training and Career Structure Terms of Reference PDF 59KB

Functional relevance for associations between genetic variants and systemic lupus erythematosus.

Directory of Open Access Journals (Sweden)

Fei-Yan Deng

Full Text Available Systemic lupus erythematosus (SLE is a serious prototype autoimmune disease characterized by chronic inflammation, auto-antibody production and multi-organ damage. Recent association studies have identified a long list of loci that were associated with SLE with relatively high statistical power. However, most of them only established the statistical associations of genetic markers and SLE at the DNA level without supporting evidence of functional relevance. Here, using publically available datasets, we performed integrative analyses (gene relationship across implicated loci analysis, differential gene expression analysis and functional annotation clustering analysis and combined with expression quantitative trait loci (eQTLs results to dissect functional mechanisms underlying the associations for SLE. We found that 14 SNPs, which were significantly associated with SLE in previous studies, have cis-regulation effects on four eQTL genes (HLA-DQA1, HLA-DQB1, HLA-DQB2, and IRF5 that were also differentially expressed in SLE-related cell groups. The functional evidence, taken together, suggested the functional mechanisms underlying the associations of 14 SNPs and SLE. The study may serve as an example of mining publically available datasets and results in validation of significant disease-association results. Utilization of public data resources for integrative analyses may provide novel insights into the molecular genetic mechanisms underlying human diseases.

75 FR 43329 - Interim Final Rules for Group Health Plans and Health Insurance Issuers Relating to Internal...

Science.gov (United States)

2010-07-23

... 45 CFR Part 147 Interim Final Rules for Group Health Plans and Health Insurance Issuers Relating to... Interim Final Rules for Group Health Plans and Health Insurance Issuers Relating to Internal Claims and... of Labor; Office of Consumer Information and Insurance Oversight, Department of Health and Human...

Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy*

Science.gov (United States)

De Neve, Jan-Emmanuel; Mikhaylov, Slava; Dawes, Christopher T.; Christakis, Nicholas A.; Fowler, James H.

2013-01-01

We address leadership emergence and the possibility that there is a partially innate predisposition to occupy a leadership role. Employing twin design methods on data from the National Longitudinal Study of Adolescent Health, we estimate the heritability of leadership role occupancy at 24%. Twin studies do not point to specific genes or neurological processes that might be involved. We therefore also conduct association analysis on the available genetic markers. The results show that leadership role occupancy is associated with rs4950, a single nucleotide polymorphism (SNP) residing on a neuronal acetylcholine receptor gene (CHRNB3). We replicate this family-based genetic association result on an independent sample in the Framingham Heart Study. This is the first study to identify a specific genotype associated with the tendency to occupy a leadership position. The results suggest that what determines whether an individual occupies a leadership position is the complex product of genetic and environmental influences; with a particular role for rs4950. PMID:23459689

Remedial design report and remedial action work plan for the 100-HR-3 and 100-KR-4 groundwater operable units' interim action

International Nuclear Information System (INIS)

1996-09-01

This document is a combination remedial design report and remedial action work plan for the 100-HR-3 and 100-KR-4 Operable Units (located on the Hanford Site in Richland, Washington) interim action. The interim actions described in this document represent the first of an ongoing program to address groundwater contamination in each operable unit. This document describes the design basis, provides a description of the interim action, and identifies how they will meet the requirements set forth in the interim action Record of Decision

Identifying Associations Between Brain Imaging Phenotypes and Genetic Factors via A Novel Structured SCCA Approach.

Science.gov (United States)

Du, Lei; Zhang, Tuo; Liu, Kefei; Yan, Jingwen; Yao, Xiaohui; Risacher, Shannon L; Saykin, Andrew J; Han, Junwei; Guo, Lei; Shen, Li

2017-06-01

Brain imaging genetics attracts more and more attention since it can reveal associations between genetic factors and the structures or functions of human brain. Sparse canonical correlation analysis (SCCA) is a powerful bi-multivariate association identification technique in imaging genetics. There have been many SCCA methods which could capture different types of structured imaging genetic relationships. These methods either use the group lasso to recover the group structure, or employ the graph/network guided fused lasso to find out the network structure. However, the group lasso methods have limitation in generalization because of the incomplete or unavailable prior knowledge in real world. The graph/network guided methods are sensitive to the sign of the sample correlation which may be incorrectly estimated. We introduce a new SCCA model using a novel graph guided pairwise group lasso penalty, and propose an efficient optimization algorithm. The proposed method has a strong upper bound for the grouping effect for both positively and negatively correlated variables. We show that our method performs better than or equally to two state-of-the-art SCCA methods on both synthetic and real neuroimaging genetics data. In particular, our method identifies stronger canonical correlations and captures better canonical loading profiles, showing its promise for revealing biologically meaningful imaging genetic associations.

Report on the long-term interim storage of spent fuels and vitrified wastes; Gutachten zur Langzeitzwischenlagerung abgebrannter Brennelemente und verglaster Abfaelle

Energy Technology Data Exchange (ETDEWEB)

NONE

2015-12-03

Long-term interim storage for several hundred years is an option on the management of high-level radioactive wastes. The decision on final disposal is postponed. Worldwide the long-term interim storage is not part of the disposal concept - a geologic final repository is the ultimate aim. Using today's technology the interim storage over several hundred years is supposed to be uncritical. Aging management is the most important challenge - the renewal of the facilities would have to be expected. Possible social change and their impact on the interim storage problem has not been considered.

Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery.

Directory of Open Access Journals (Sweden)

Amanda A Fox

Full Text Available BACKGROUND: Postoperative ventricular dysfunction (VnD occurs in 9-20% of coronary artery bypass graft (CABG surgical patients and is associated with increased postoperative morbidity and mortality. Understanding genetic causes of postoperative VnD should enhance patient risk stratification and improve treatment and prevention strategies. We aimed to determine if genetic variants associate with occurrence of in-hospital VnD after CABG surgery. METHODS: A genome-wide association study identified single nucleotide polymorphisms (SNPs associated with postoperative VnD in male subjects of European ancestry undergoing isolated primary CABG surgery with cardiopulmonary bypass. VnD was defined as the need for ≥2 inotropes or mechanical ventricular support after CABG surgery. Validated SNPs were assessed further in two replication CABG cohorts and meta-analysis was performed. RESULTS: Over 100 SNPs were associated with VnD (P2.1 of developing in-hospital VnD after CABG surgery. However, three genetic loci identified by meta-analysis were more modestly associated with development of postoperative VnD. Studies of larger cohorts to assess these loci as well as to define other genetic mechanisms and related biology that link genetic variants to postoperative ventricular dysfunction are warranted.

A strategy analysis for genetic association studies with known inbreeding

Directory of Open Access Journals (Sweden)

del Giacco Stefano

2011-07-01

Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

Operator licensing examination standards for power reactors. Interim revision 8

International Nuclear Information System (INIS)

1997-01-01

These examination standards are intended to assist NRC examiners and facility licensees to better understand the processes associated with initial and requalification examinations. The standards also ensure the equitable and consistent administration of examinations for all applicants. These standards are for guidance purposes and are not a substitute for the operator licensing regulations (i.e., 10 CFR Part 55), and they are subject to revision or other changes in internal operator licensing policy. This interim revision permits facility licensees to prepare their initial operator licensing examinations on a voluntary basis pending an amendment to 10 CFR Part 55 that will require facility participation. The NRC intends to solicit comments on this revision during the rulemaking process and to issue a final Revision 8 in conjunction with the final rule

The Genetic and Environmental Contributions to Internet Use and Associations With Psychopathology: A Twin Study.

Science.gov (United States)

Long, Elizabeth C; Verhulst, Brad; Neale, Michael C; Lind, Penelope A; Hickie, Ian B; Martin, Nicholas G; Gillespie, Nathan A

2016-02-01

Excessive internet use has been linked to psychopathology. Therefore, understanding the genetic and environmental risks underpinning internet use and their relation to psychopathology is important. This study aims to explore the genetic and environmental etiology of internet use measures and their associations with internalizing disorders and substance use disorders. The sample included 2,059 monozygotic (MZ) and dizygotic (DZ) young adult twins from the Brisbane Longitudinal Twin Study (BLTS). Younger participants reported more frequent internet use, while women were more likely to use the internet for interpersonal communication. Familial aggregation in 'frequency of internet use' was entirely explained by additive genetic factors accounting for 41% of the variance. Familial aggregation in 'frequency of use after 11 pm', 'using the internet to contact peers', and 'using the internet primarily to access social networking sites' was attributable to varying combinations of additive genetic and shared environmental factors. In terms of psychopathology, there were no significant associations between internet use measures and major depression (MD), but there were positive significant associations between 'frequency of internet use' and 'frequency of use after 11 pm' with social phobia (SP). 'Using the internet to contact peers' was positively associated with alcohol abuse, whereas 'using the internet to contact peers' and 'using the internet primarily to access social networking sites' were negatively associated with cannabis use disorders and nicotine symptoms. Individual differences in internet use can be attributable to varying degrees of genetic and environmental risks. Despite some significant associations of small effect, variation in internet use appears mostly unrelated to psychopathology.

Systems genetics of obesity in an F2 pig model by genome-wide association, genetic network and pathway analyses

DEFF Research Database (Denmark)

Kogelman, Lisette; Pant, Sameer Dinkar; Fredholm, Merete

2014-01-01

.g. metabolic processes. WISH networks based on genotypic correlations allowed further identification of various gene ontology terms and pathways related to obesity and related traits, which were not identified by the GWA study. In conclusion, this is the first study to develop a (genetic) obesity index...... investigations focusing on single genetic variants have achieved limited success, and the importance of including genetic interactions is becoming evident. Here, the aim was to perform an integrative genomic analysis in an F2 pig resource population that was constructed with an aim to maximize genetic variation...... of obesity-related phenotypes and genotyped using the 60K SNP chip. Firstly, Genome Wide Association (GWA) analysis was performed on the Obesity Index to locate candidate genomic regions that were further validated using combined Linkage Disequilibrium Linkage Analysis and investigated by evaluation...

46 CFR 308.303 - Amounts insured under interim binder.

Science.gov (United States)

2010-10-01

... 308.303 Shipping MARITIME ADMINISTRATION, DEPARTMENT OF TRANSPORTATION EMERGENCY OPERATIONS WAR RISK INSURANCE Second Seamen's War Risk Insurance § 308.303 Amounts insured under interim binder. The amounts insured are the amounts specified in the Second Seamen's War Risk Policy (1955) or as modified by shipping...

Combinations of genetic variants associated with bipolar disorder

DEFF Research Database (Denmark)

Mellerup, Erling; Andreassen, Ole A; Bennike, Bente

2017-01-01

The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five...... clusters of combinations were found to be significantly associated with bipolar disorder. In the present study, combinations of ten SNP genotypes taken from the same 803 SNPs were analyzed, and one cluster of combinations was found to be significantly associated with bipolar disorder. Combinations from......, heterozygote or variant homozygote. In the combinations containing 10 SNP genotypes almost all the genotypes were the normal homozygote. Such a finding may indicate that accumulation in the genome of combinations containing few SNP genotypes may be a risk factor for bipolar disorder when those combinations...

Study on the Method of Association Rules Mining Based on Genetic Algorithm and Application in Analysis of Seawater Samples

Directory of Open Access Journals (Sweden)

Qiuhong Sun

2014-04-01

Full Text Available Based on the data mining research, the data mining based on genetic algorithm method, the genetic algorithm is briefly introduced, while the genetic algorithm based on two important theories and theoretical templates principle implicit parallelism is also discussed. Focuses on the application of genetic algorithms for association rule mining method based on association rule mining, this paper proposes a genetic algorithm fitness function structure, data encoding, such as the title of the improvement program, in particular through the early issues study, proposed the improved adaptive Pc, Pm algorithm is applied to the genetic algorithm, thereby improving efficiency of the algorithm. Finally, a genetic algorithm based association rule mining algorithm, and be applied in sea water samples database in data mining and prove its effective.

Does Skeletal Muscle Mass Influence Breast Cancer? Evaluating Mammary Tumorigenesis and Progression in Genetically Hyper-Muscular Mice

Science.gov (United States)

2007-07-01

muscle growth inhibitor myostatin and mice expressing a dominant negative form of the myostatin receptor (MLC-dnActRIIB mice). Mammary cancer was...hypermuscular mice and the results are pending. In the interim we used genetic and pharmacological inhibition of the myostatin pathway to potentially...metabolic syndrome induced by the tumor. However, despite increasing normal muscle growth, myostatin inhibition failed to protect mice from cancer

Efficient replication of over 180 genetic associations with self-reported medical data.

Directory of Open Access Journals (Sweden)

Joyce Y Tung

Full Text Available While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence. Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.

Physical activity and mortality: is the association explained by genetic selection?

Science.gov (United States)

Carlsson, Sofia; Andersson, Tomas; Lichtenstein, Paul; Michaëlsson, Karl; Ahlbom, Anders

2007-08-01

Public health recommendations promote physical activity to improve health and longevity. Recent data suggest that the association between physical activity and mortality may be due to genetic selection. Using data on twins, the authors investigated whether genetic selection explains the association between physical activity and mortality. Data were based on a postal questionnaire answered by 13,109 Swedish twin pairs in 1972. The national Cause of Death Register was used for information about all-cause mortality (n=1,800) and cardiovascular disease mortality (n=638) during 1975-2004. The risk of death was reduced by 34% for men (relative risk=0.64, 95% confidence interval: 0.50, 0.83) and by 25% for women (relative risk=0.75, 95% confidence interval: 0.50, 1.14) reporting high physical activity levels. Within-pair comparisons of monozygotic twins showed that, compared with their less active co-twin, the more active twin had a 20% (odds ratio=0.80, 95% confidence interval: 0.65, 0.99) reduced risk of all-cause mortality and a 32% (odds ratio=0.68, 95% confidence interval: 0.49, 0.95) reduced risk of cardiovascular disease mortality. Results indicate that physical activity is associated with a reduced risk of mortality not due to genetic selection. This finding supports a causal link between physical activity and mortality.

Association between textural and morphological tumor indices on baseline PET-CT and early metabolic response on interim PET-CT in bulky malignant lymphomas.

Science.gov (United States)

Ben Bouallègue, Fayçal; Tabaa, Yassine Al; Kafrouni, Marilyne; Cartron, Guillaume; Vauchot, Fabien; Mariano-Goulart, Denis

2017-09-01

We investigated whether metabolic, textural, and morphological tumoral indices evaluated on baseline PET-CT were predictive of early metabolic response on interim PET-CT in a cohort of patients with bulky Hodgkin and non-Hodgkin malignant lymphomas. This retrospective study included 57 patients referred for initial PET-CT examination. In-house dedicated software was used to delineate tumor contours using a fixed 30% threshold of SUV max and then to compute tumoral metabolic parameters (SUV max, mean, peak, standard deviation, skewness and kurtosis, metabolic tumoral volume (MTV), total lesion glycolysis, and area under the curve of the cumulative histogram), textural parameters (Moran's and Geary's indices, energy, entropy, contrast, correlation derived from the gray-level co-occurrence matrix, area under the curve of the power spectral density, auto-correlation distance, and granularity), and shape parameters (surface, asphericity, convexity, surfacic extension, and 2D and 3D fractal dimensions). Early metabolic response was assessed on interim PET-CT using the Deauville 5-point scale and patients were ranked according to the Lugano classification as complete or not complete metabolic responders. The impact of the segmentation method (alternate threshold at 41%) and image resolution (Gaussian postsmoothing of 3, 5, and 7 mm) was investigated. The association of the proposed parameters with early response was assessed in univariate and multivariate analyses. Their added predictive value was explored using supervised classification by support vector machines (SVM). We evaluated in leave-one-out cross-validation three SVMs admitting as input features (a) MTV, (b) MTV + histological type, and (c) MTV + histology + relevant texture/shape indices. Features associated with complete metabolic response were low MTV (P = 0.01), low TLG (P = 0.003), high power spectral density AUC (P = 0.007), high surfacic extension (P = 0.006), low 2D fractal dimension (P�

Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

Science.gov (United States)

Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

2014-01-01

Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank

DEFF Research Database (Denmark)

Cortes, Adrian; Dendrou, Calliope A; Motyer, Allan

2017-01-01

Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best...... to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes...... derived from self-reporting and hospital episode statistics. Our method displays a more than 20% increase in power to detect genetic effects over other approaches and identifies new associations between classical human leukocyte antigen (HLA) alleles and common immune-mediated diseases (IMDs). By applying...

Retrievable surface storage: interim storage of solidified high-level waste

International Nuclear Information System (INIS)

LaRiviere, J.R.; Nelson, D.C.

1976-01-01

Studies have been conducted on retrievable-surface-storage concepts for the interim storage of solidified high-level wastes. These studies have been reviewed by the Panel on Engineered Storage, convened by the Committee on Radioactive Waste Management of the National Research Council-National Academy of Sciences. The Panel has concluded that ''retrievable surface storage is an acceptable interim stage in a comprehensive system for managing high-level radioactive wastes.'' The scaled storage cask concept, which was recommended by the Panel on Engineered Storage, consists of placing a canister of waste inside a carbon-steel cask, which in turn is placed inside a thick concrete cylinder. The waste is cooled by natural convection air flow through an annulus between the cask and the inner wall of the concrete cylinder. The complete assembly is placed above ground in an outdoor storage area

Interim analysis: A rational approach of decision making in clinical trial.

Science.gov (United States)

Kumar, Amal; Chakraborty, Bhaswat S

2016-01-01

Interim analysis of especially sizeable trials keeps the decision process free of conflict of interest while considering cost, resources, and meaningfulness of the project. Whenever necessary, such interim analysis can also call for potential termination or appropriate modification in sample size, study design, and even an early declaration of success. Given the extraordinary size and complexity today, this rational approach helps to analyze and predict the outcomes of a clinical trial that incorporate what is learned during the course of a study or a clinical development program. Such approach can also fill the gap by directing the resources toward relevant and optimized clinical trials between unmet medical needs and interventions being tested currently rather than fulfilling only business and profit goals.

Interim analysis: A rational approach of decision making in clinical trial

Directory of Open Access Journals (Sweden)

Amal Kumar

2016-01-01

Full Text Available Interim analysis of especially sizeable trials keeps the decision process free of conflict of interest while considering cost, resources, and meaningfulness of the project. Whenever necessary, such interim analysis can also call for potential termination or appropriate modification in sample size, study design, and even an early declaration of success. Given the extraordinary size and complexity today, this rational approach helps to analyze and predict the outcomes of a clinical trial that incorporate what is learned during the course of a study or a clinical development program. Such approach can also fill the gap by directing the resources toward relevant and optimized clinical trials between unmet medical needs and interventions being tested currently rather than fulfilling only business and profit goals.

In situ genetic association for serotiny, a fire-related trait, in Mediterranean maritime pine (Pinus pinaster).

Science.gov (United States)

Budde, Katharina B; Heuertz, Myriam; Hernández-Serrano, Ana; Pausas, Juli G; Vendramin, Giovanni G; Verdú, Miguel; González-Martínez, Santiago C

2014-01-01

Wildfire is a major ecological driver of plant evolution. Understanding the genetic basis of plant adaptation to wildfire is crucial, because impending climate change will involve fire regime changes worldwide. We studied the molecular genetic basis of serotiny, a fire-related trait, in Mediterranean maritime pine using association genetics. A single nucleotide polymorphism (SNP) set was used to identify genotype : phenotype associations in situ in an unstructured natural population of maritime pine (eastern Iberian Peninsula) under a mixed-effects model framework. RR-BLUP was used to build predictive models for serotiny in this region. Model prediction power outside the focal region was tested using independent range-wide serotiny data. Seventeen SNPs were potentially associated with serotiny, explaining approximately 29% of the trait phenotypic variation in the eastern Iberian Peninsula. Similar prediction power was found for nearby geographical regions from the same maternal lineage, but not for other genetic lineages. Association genetics for ecologically relevant traits evaluated in situ is an attractive approach for forest trees provided that traits are under strong genetic control and populations are unstructured, with large phenotypic variability. This will help to extend the research focus to ecological keystone non-model species in their natural environments, where polymorphisms acquired their adaptive value. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

Waste resources utilization program. Interim report, June 30, 1976

International Nuclear Information System (INIS)

1976-07-01

This is an interim report on the effects of the combined use of heat and ionizing radiation (thermoradiation) as a treatment for ridding sewage sludge of pathogenic organisms as well as its effect on the physical-chemical properties. This activity couples two major environmental problems, disposition of human and of nuclear waste, in an attempt to provide a framework in which both will become useful resources. This combined treatment might be chosen to inactivate both heat labile (but possibly radiation resistant) and radiation labile (but possibly heat resistant) organisms. The cost-effective analyses of such a treatment are being examined. Sludge treated with thermoradiation offers considerable potential for use as a fertilizer in agriculture or a soil conditioner for land reclamation free of the potential health hazards associated with conventional methods of land disposal. Treated sludge may also provide a low-cost substitute for high-nutritional components in ruminant diets

Engineering evaluation/conceptual plan for the 200-UP-1 groundwater operable unit interim remedial measure

International Nuclear Information System (INIS)

Myers, D.A.; Swanson, L.C.; Weeks, R.S.; Giacinto, J.; Gustafson, F.W.; Ford, B.H.; Wittreich, C.; Parnell, S.; Green, J.

1995-04-01

This report presents an engineering evaluation and conceptual plan for an interim remedial measure (ERM) to address a uranium and technetium-99 groundwater plume and an associated nitrate contamination plume in the 200-UP-1 Groundwater Operable Unit located in the 200 West Area of the Hanford Site. This report provides information regarding the need and potentially achievable objectives and goals for an IRM and evaluates alternatives to contain elevated concentrations of uranium, technetium-99, nitrate, and carbon tetrachloride and to obtain information necessary to develop final remedial actions for the operable unit

Does degree of gyrification underlie the phenotypic and genetic associations between cortical surface area and cognitive ability?

Science.gov (United States)

Docherty, Anna R; Hagler, Donald J; Panizzon, Matthew S; Neale, Michael C; Eyler, Lisa T; Fennema-Notestine, Christine; Franz, Carol E; Jak, Amy; Lyons, Michael J; Rinker, Daniel A; Thompson, Wesley K; Tsuang, Ming T; Dale, Anders M; Kremen, William S

2015-02-01

The phenotypic and genetic relationship between global cortical size and general cognitive ability (GCA) appears to be driven by surface area (SA) and not cortical thickness (CT). Gyrification (cortical folding) is an important property of the cortex that helps to increase SA within a finite space, and may also improve connectivity by reducing distance between regions. Hence, gyrification may be what underlies the SA-GCA relationship. In previous phenotypic studies, a 3-dimensional gyrification index (3DGI) has been positively associated with cognitive ability and negatively associated with mild cognitive impairment, Alzheimer's disease, and psychiatric disorders affecting cognition. However, the differential genetic associations of 3DGI and SA with GCA are still unclear. We examined the heritability of 3DGI, and the phenotypic, genetic, and environmental associations of 3DGI with SA and GCA in a large sample of adult male twins (N = 512). Nearly 85% of the variance in 3DGI was due to genes, and 3DGI had a strong phenotypic and genetic association with SA. Both 3DGI and total SA had positive phenotypic correlations with GCA. However, the SA-GCA correlation remained significant after controlling for 3DGI, but not the other way around. There was also significant genetic covariance between SA and GCA, but not between 3DGI and GCA. Thus, despite the phenotypic and genetic associations between 3DGI and SA, our results do not support the hypothesis that gyrification underlies the association between SA and GCA. Copyright © 2014 Elsevier Inc. All rights reserved.

Does cortisol moderate the environmental association between peer victimization and depression symptoms? A genetically informed twin study.

Science.gov (United States)

Brendgen, Mara; Ouellet-Morin, Isabelle; Lupien, Sonia; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

2017-10-01

Many youths who are victimized by peers suffer from depression symptoms. However, not all bullying victims show depression symptoms and individuals' biological sensitivity may play an important moderating role in this regard. In line with this notion, peer victimization has been associated with increased depressive symptoms in youth with higher basal cortisol secretion. It is unclear, however, whether this moderating effect of cortisol really concerns the environmental effect of peer victimization on depression. Indeed, genetic factors can also influence individuals' environmental experiences, including peer victimization, and part of these genetic factors may be those associated with depression. Using a genetically informed design based on 159 monozygotic and 120 dizygotic twin pairs (52% girls) assessed at age 14 years, this study examined whether cortisol secretion moderates the environmental or the genetic association between peer victimization and depression symptoms. Salivary cortisol at awakening was obtained with buccal swabs during four school week days. Peer victimization and depression were assessed via self-reports. Cholesky modeling revealed that peer victimization was associated with depression symptoms via both genetic and environmental pathways. Moreover, the environmental association between peer victimization and depression symptoms steadily increased with increasing levels of morning cortisol. The genetic association between peer victimization and depression symptoms also varied, albeit less, as a function of individuals' cortisol secretion. These findings support the hypothesis that peer victimization increases internalizing psychopathology mainly in youth with heightened biological reactivity to environmental conditions. Copyright © 2017 Elsevier Ltd. All rights reserved.

Phenotype variations affect genetic association studies of degenerative disc disease: conclusions of analysis of genetic association of 58 single nucleotide polymorphisms with highly specific phenotypes for disc degeneration in 332 subjects.

Science.gov (United States)

Rajasekaran, S; Kanna, Rishi Mugesh; Senthil, Natesan; Raveendran, Muthuraja; Cheung, Kenneth M C; Chan, Danny; Subramaniam, Sakthikanal; Shetty, Ajoy Prasad

2013-10-01

Although the influence of genetics on the process of disc degeneration is well recognized, in recently published studies, there is a wide variation in the race and selection criteria for such study populations. More importantly, the radiographic features of disc degeneration that are selected to represent the disc degeneration phenotype are variable in these studies. The study presented here evaluates the association between single nucleotide polymorphisms (SNPs) of candidate genes and three distinct radiographic features that can be defined as the degenerative disc disease (DDD) phenotype. The study objectives were to examine the allelic diversity of 58 SNPs related to 35 candidate genes related to lumbar DDD, to evaluate the association in a hitherto unevaluated ethnic Indian population that represents more than one-sixth of the world population, and to analyze how genetic associations can vary in the same study subjects with the choice of phenotype. A cross-sectional, case-control study of an ethnic Indian population was carried out. Fifty-eight SNPs in 35 potential candidate genes were evaluated in 342 subjects and the associations were analyzed against three highly specific markers for DDD, namely disc degeneration by Pfirrmann grading, end-plate damage evaluated by total end-plate damage score, and annular tears evaluated by disc herniations and hyperintense zones. Genotyping of cases and controls was performed on a genome-wide SNP array to identify potential associated disease loci. The results from the genome-wide SNP array were then used to facilitate SNP selection and genotype validation was conducted using Sequenom-based genotyping. Eleven of the 58 SNPs provided evidence of association with one of the phenotypes. For annular tears, rs1042631 SNP of AGC1 and rs467691 SNP of ADAMTS5 were highly significantly associated (p<.01) and SNPs in NGFB, IL1B, IL18RAP, and MMP10 were also significantly associated (p<.05). The rs4076018 SNP of NGFB was highly

Development of dual-purpose metal cask for interim storage of spent nuclear fuel (1). Outline of cask structure

International Nuclear Information System (INIS)

Shimizu, Masashi; Hayashi, Makoto; Kashiwakura, Jun

2003-01-01

Spent fuels discharged from nuclear power plants in Japan are planed to be reprocessed at the nuclear fuel recycle plant under construction at Rokkasho-mura. Since the amount of the spent fuels exceeds that of recycled fuel, the spent fuels have to be properly stored and maintained as recycle fuel resource until the beginning of the reprocessing. For that sake, interim storage installations are being constructed outside the nuclear power plants by 2010. The storage dry casks have been practically used as the interim storage in the nuclear power plants. From this reason, the storage system using the storage dry casks is promising as the interim storage installations away form the reactors, which are under discussion. In the interim storage facilities, the storage using the dry cask of the storage metal cask with business showings, having the function of transportation is now under discussion. By employing transportation and storage dual-purpose cask, the repack equipments can be exhausted, and the reliability of the interim storage installations can be increased. Hitachi, Ltd. has been developing the high reliable and economical transportation and storage dry metal cask. In this report, the outline of our developing transportation and storage dry cask is described. (author)

Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status.

Science.gov (United States)

Schmidt, Börge; Dragano, Nico; Scherag, André; Pechlivanis, Sonali; Hoffmann, Per; Nöthen, Markus M; Erbel, Raimund; Jöckel, Karl-Heinz; Moebus, Susanne

2014-06-16

The relevance of disease-related genetic variants for the explanation of social inequalities in complex diseases is unclear and empirical analyses are largely missing. The aim of our study was to examine whether genetic variants predisposing to diabetes mellitus are associated with socioeconomic status in a population-based cohort. We genotyped 11 selected diabetes-related single nucleotide polymorphisms in 4655 participants (age 45-75 years) of the Heinz Nixdorf Recall study. Diabetes status was self-reported or defined by blood glucose levels. Education, income and paternal occupation were assessed as indicators of socioeconomic status. Multiple regression analyses were used to examine the association of socioeconomic status and diabetes by estimating sex-specific and age-adjusted prevalence ratios and their corresponding 95%-confidence intervals. To explore the relationship between individual single nucleotide polymorphisms and socioeconomic status sex- and age-adjusted odds ratios were computed. We adjusted the alpha-level for multiple testing of 11 single nucleotide polymorphisms using Bonferroni's method (α(BF) ~ 0.005). In addition, we explored the association of a genetic risk score with socioeconomic status. Social inequalities in diabetes were observed for all indicators of socioeconomic status. However, there were no significant associations between individual diabetes-related risk alleles and socioeconomic status with odds ratios ranging from 0.87 to 1.23. Similarly, the genetic risk score analysis revealed no evidence for an association. Our data provide no evidence for an association between 11 diabetes-related risk alleles and different indicators of socioeconomic status in a population-based cohort, suggesting that the explored genetic variants do not contribute to health inequalities in diabetes.

Genetic Variation in NFKBIE Is Associated With Increased Risk of Pneumococcal Meningitis in Children

DEFF Research Database (Denmark)

Lundbo, Lene F; Harboe, Zitta Barrella; Clausen, Louise N

2016-01-01

NFKBIA, NFKBIE and NFKBIZ. We aimed to replicate previous findings of genetic variation associated with invasive pneumococcal disease (IPD), and to assess whether similar associations could be found in invasive meningococcal disease (IMD). METHODS: Cases with IPD and IMD and controls were identified......BACKGROUND: Streptococcus pneumoniae and Neisseria meningitidis are frequent pathogens in life-threatening infections. Genetic variation in the immune system may predispose to these infections. Nuclear factor-κB is a key component of the TLR-pathway, controlled by inhibitors, encoded by the genes.......86-1.35). The remaining SNPs were not associated with susceptibility to invasive disease. None of the SNPs were associated with risk of IMD or mortality. CONCLUSIONS: A NFKBIE polymorphism was associated with increased risk of pneumococcal meningitis....

STrengthening the REporting of Genetic Association Studies (STREGA – An Extension of the STROBE Statement

Directory of Open Access Journals (Sweden)

Julian Little

2009-09-01

Full Text Available Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.

7 CFR 1710.109 - Reimbursement of general funds and interim financing.

Science.gov (United States)

2010-01-01

... LOANS AND GUARANTEES Loan Purposes and Basic Policies § 1710.109 Reimbursement of general funds and... replace interim financing used to finance equipment and facilities that were included in an RUS-approved...

Public School Finance Problems in Texas. An Interim Report.

Science.gov (United States)

Texas Research League, Austin.

The U.S. District Court ruling in Rodriguez vs San Antonio Independent School District, which struck down Texas' school finance system as inequitable and unconstitutional, provided the impetus for publishing this interim report. The report documents the growing cost of State-supported public school programs--the primary concern prior to the…

Interim supply in the electricity industry

Energy Technology Data Exchange (ETDEWEB)

Strassburg, W

1977-06-01

The interim supply or the so-called 'condition without a contract' can occur within the framework of energy supply in the relationship between 1) public utility and tariff customer, 2) public utility and the special last-in-line consumer, 3) supplying and distributing public utility, 4) public utility and territorial administrative body. The present contribution deals with the cases named under (3) and (4). Cases (1) and (2) were dealt with in a previous article. Relevant contract clauses and laws and their effects on contracting partners are discussed.

Interim supply in the electricity industry

Energy Technology Data Exchange (ETDEWEB)

Strassburg, W

1977-05-01

The interim supply or the so-called 'condition without a contract' can occur within the framework of energy supply in the relationship between: 1) public utility and tariff customer, 2) public utility and the special last-in-line consumer, 3) supplying and distributing public utility, 4) public utility and territorial administrative body. The contribution at hand deals with the cases under 1) and 2); cases 3) and 4) are dealt with in an article to be published. Relevant contract clauses and laws and their effects on contracting partners are discussed. 41 references.

Central waste complex interim safety basis

International Nuclear Information System (INIS)

Cain, F.G.

1995-01-01

This interim safety basis provides the necessary information to conclude that hazards at the Central Waste Complex are controlled and that current and planned activities at the CWC can be conducted safely. CWC is a multi-facility complex within the Solid Waste Management Complex that receives and stores most of the solid wastes generated and received at the Hanford Site. The solid wastes that will be handled at CWC include both currently stored and newly generated low-level waste, low-level mixed waste, contact-handled transuranic, and contact-handled TRU mixed waste

33 CFR 96.360 - Interim Safety Management Certificate: what is it and when can it be used?

Science.gov (United States)

2010-07-01

...? § 96.360 Interim Safety Management Certificate: what is it and when can it be used? (a) A responsible... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Interim Safety Management Certificate: what is it and when can it be used? 96.360 Section 96.360 Navigation and Navigable Waters COAST...

Solar Radiation-Associated Adaptive SNP Genetic Differentiation in Wild Emmer Wheat, Triticum dicoccoides.

Science.gov (United States)

Ren, Jing; Chen, Liang; Jin, Xiaoli; Zhang, Miaomiao; You, Frank M; Wang, Jirui; Frenkel, Vladimir; Yin, Xuegui; Nevo, Eviatar; Sun, Dongfa; Luo, Ming-Cheng; Peng, Junhua

2017-01-01

Whole-genome scans with large number of genetic markers provide the opportunity to investigate local adaptation in natural populations and identify candidate genes under positive selection. In the present study, adaptation genetic differentiation associated with solar radiation was investigated using 695 polymorphic SNP markers in wild emmer wheat originated in a micro-site at Yehudiyya, Israel. The test involved two solar radiation niches: (1) sun, in-between trees; and (2) shade, under tree canopy, separated apart by a distance of 2-4 m. Analysis of molecular variance showed a small (0.53%) but significant portion of overall variation between the sun and shade micro-niches, indicating a non-ignorable genetic differentiation between sun and shade habitats. Fifty SNP markers showed a medium (0.05 ≤ F ST ≤ 0.15) or high genetic differentiation ( F ST > 0.15). A total of 21 outlier loci under positive selection were identified by using four different F ST -outlier testing algorithms. The markers and genome locations under positive selection are consistent with the known patterns of selection. These results suggested that genetic differentiation between sun and shade habitats is substantial, radiation-associated, and therefore ecologically determined. Hence, the results of this study reflected effects of natural selection through solar radiation on EST-related SNP genetic diversity, resulting presumably in different adaptive complexes at a micro-scale divergence. The present work highlights the evolutionary theory and application significance of solar radiation-driven natural selection in wheat improvement.

Association of Genetic Variants Related to Serum Calcium Levels With Coronary Artery Disease and Myocardial Infarction.

Science.gov (United States)

Larsson, Susanna C; Burgess, Stephen; Michaëlsson, Karl

2017-07-25

Serum calcium has been associated with cardiovascular disease in observational studies and evidence from randomized clinical trials indicates that calcium supplementation, which raises serum calcium levels, may increase the risk of cardiovascular events, particularly myocardial infarction. To evaluate the potential causal association between genetic variants related to elevated serum calcium levels and risk of coronary artery disease (CAD) and myocardial infarction using mendelian randomization. The analyses were performed using summary statistics obtained for single-nucleotide polymorphisms (SNPs) identified from a genome-wide association meta-analysis of serum calcium levels (N = up to 61 079 individuals) and from the Coronary Artery Disease Genome-wide Replication and Meta-analysis Plus the Coronary Artery Disease Genetics (CardiogramplusC4D) consortium's 1000 genomes-based genome-wide association meta-analysis (N = up to 184 305 individuals) that included cases (individuals with CAD and myocardial infarction) and noncases, with baseline data collected from 1948 and populations derived from across the globe. The association of each SNP with CAD and myocardial infarction was weighted by its association with serum calcium, and estimates were combined using an inverse-variance weighted meta-analysis. Genetic risk score based on genetic variants related to elevated serum calcium levels. Co-primary outcomes were the odds of CAD and myocardial infarction. Among the mendelian randomized analytic sample of 184 305 individuals (60 801 CAD cases [approximately 70% with myocardial infarction] and 123 504 noncases), the 6 SNPs related to serum calcium levels and without pleiotropic associations with potential confounders were estimated to explain about 0.8% of the variation in serum calcium levels. In the inverse-variance weighted meta-analysis (combining the estimates of the 6 SNPs), the odds ratios per 0.5-mg/dL increase (about 1 SD) in genetically

A fast multilocus test with adaptive SNP selection for large-scale genetic-association studies

KAUST Repository

Zhang, Han

2013-09-11

As increasing evidence suggests that multiple correlated genetic variants could jointly influence the outcome, a multilocus test that aggregates association evidence across multiple genetic markers in a considered gene or a genomic region may be more powerful than a single-marker test for detecting susceptibility loci. We propose a multilocus test, AdaJoint, which adopts a variable selection procedure to identify a subset of genetic markers that jointly show the strongest association signal, and defines the test statistic based on the selected genetic markers. The P-value from the AdaJoint test is evaluated by a computationally efficient algorithm that effectively adjusts for multiple-comparison, and is hundreds of times faster than the standard permutation method. Simulation studies demonstrate that AdaJoint has the most robust performance among several commonly used multilocus tests. We perform multilocus analysis of over 26,000 genes/regions on two genome-wide association studies of pancreatic cancer. Compared with its competitors, AdaJoint identifies a much stronger association between the gene CLPTM1L and pancreatic cancer risk (6.0 × 10(-8)), with the signal optimally captured by two correlated single-nucleotide polymorphisms (SNPs). Finally, we show AdaJoint as a powerful tool for mapping cis-regulating methylation quantitative trait loci on normal breast tissues, and find many CpG sites whose methylation levels are jointly regulated by multiple SNPs nearby.

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

Directory of Open Access Journals (Sweden)

Iris Broce

2018-01-01

Full Text Available Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD. Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed.Using large genome-wide association studies (GWASs (total n = 192,886 cases and controls and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD, progressive supranuclear palsy (PSP, and amyotrophic lateral sclerosis (ALS-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC, rheumatoid arthritis (RA, type 1 diabetes (T1D, celiac disease (CeD, and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold. For FTD, at a conjunction false discovery rate < 0.05 and after excluding SNPs in linkage disequilibrium, we found that 8 of the 15 identified loci mapped to the human leukocyte antigen (HLA region on Chromosome (Chr 6. We also found novel candidate FTD susceptibility loci within LRRK2 (leucine rich repeat kinase 2, TBKBP1 (TBK1 binding protein 1, and PGBD5 (piggyBac transposable element

Capturing the spectrum of interaction effects in genetic association studies by simulated evaporative cooling network analysis.

Directory of Open Access Journals (Sweden)

Brett A McKinney

2009-03-01

Full Text Available Evidence from human genetic studies of several disorders suggests that interactions between alleles at multiple genes play an important role in influencing phenotypic expression. Analytical methods for identifying Mendelian disease genes are not appropriate when applied to common multigenic diseases, because such methods investigate association with the phenotype only one genetic locus at a time. New strategies are needed that can capture the spectrum of genetic effects, from Mendelian to multifactorial epistasis. Random Forests (RF and Relief-F are two powerful machine-learning methods that have been studied as filters for genetic case-control data due to their ability to account for the context of alleles at multiple genes when scoring the relevance of individual genetic variants to the phenotype. However, when variants interact strongly, the independence assumption of RF in the tree node-splitting criterion leads to diminished importance scores for relevant variants. Relief-F, on the other hand, was designed to detect strong interactions but is sensitive to large backgrounds of variants that are irrelevant to classification of the phenotype, which is an acute problem in genome-wide association studies. To overcome the weaknesses of these data mining approaches, we develop Evaporative Cooling (EC feature selection, a flexible machine learning method that can integrate multiple importance scores while removing irrelevant genetic variants. To characterize detailed interactions, we construct a genetic-association interaction network (GAIN, whose edges quantify the synergy between variants with respect to the phenotype. We use simulation analysis to show that EC is able to identify a wide range of interaction effects in genetic association data. We apply the EC filter to a smallpox vaccine cohort study of single nucleotide polymorphisms (SNPs and infer a GAIN for a collection of SNPs associated with adverse events. Our results suggest an important

Children's History of Speech-Language Difficulties: Genetic Influences and Associations with Reading-Related Measures

Science.gov (United States)

DeThorne, Laura Segebart; Hart, Sara A.; Petrill, Stephen A.; Deater-Deckard, Kirby; Thompson, Lee Anne; Schatschneider, Chris; Davison, Megan Dunn

2006-01-01

Purpose: This study examined (a) the extent of genetic and environmental influences on children's articulation and language difficulties and (b) the phenotypic associations between such difficulties and direct assessments of reading-related skills during early school-age years. Method: Behavioral genetic analyses focused on parent-report data…

Interim geotechnical data report

International Nuclear Information System (INIS)

1986-01-01

This issue, the Interim Geotechnical Field Data Report, presents information obtained from the geotechnical activities at the WIPP site underground facilities since the last quarterly report. It also includes cumulative plots which contain all previous data. Finally, it continues the geotechnical analyses and interpretations of the data. The GFDR is organized into two principal parts. The first part, Geotechnical Field Data, presents in graphical form all the data collected since April 1982 from the geomechanical instruments. Presented in the second part, Evaluation and Analyses, are preliminary interpretations and analyses of the data. In this report, continuing geotechnical assessment of all the facility features is presented. Also included in the second part are separate sections on evaluation and interpretation of the instrumentation measurements, and an updated description and evaluation of observed behavior of the underground openings

Using Y-Chromosomal Haplogroups in Genetic Association Studies and Suggested Implications.

Science.gov (United States)

Erzurumluoglu, A Mesut; Baird, Denis; Richardson, Tom G; Timpson, Nicholas J; Rodriguez, Santiago

2018-01-22

Y-chromosomal (Y-DNA) haplogroups are more widely used in population genetics than in genetic epidemiology, although associations between Y-DNA haplogroups and several traits, including cardiometabolic traits, have been reported. In apparently homogeneous populations defined by principal component analyses, there is still Y-DNA haplogroup variation which will result from population history. Therefore, hidden stratification and/or differential phenotypic effects by Y-DNA haplogroups could exist. To test this, we hypothesised that stratifying individuals according to their Y-DNA haplogroups before testing for associations between autosomal single nucleotide polymorphisms (SNPs) and phenotypes will yield difference in association. For proof of concept, we derived Y-DNA haplogroups from 6537 males from two epidemiological cohorts, Avon Longitudinal Study of Parents and Children (ALSPAC) ( n = 5080; 816 Y-DNA SNPs) and the 1958 Birth Cohort ( n = 1457; 1849 Y-DNA SNPs), and studied the robust associations between 32 SNPs and body mass index (BMI), including SNPs in or near Fat Mass and Obesity-associated protein ( FTO ) which yield the strongest effects. Overall, no association was replicated in both cohorts when Y-DNA haplogroups were considered and this suggests that, for BMI at least, there is little evidence of differences in phenotype or SNP association by Y-DNA structure. Further studies using other traits, phenome-wide association studies (PheWAS), other haplogroups and/or autosomal SNPs are required to test the generalisability and utility of this approach.

Association of systemic lupus erythematosus clinical features with European population genetic substructure.

Directory of Open Access Journals (Sweden)

Elisa Alonso-Perez

Full Text Available Systemic Lupus Erythematosus (SLE is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4, oral ulcers (P = 6.9×10(-4 and photosensitivity (P = 0.002. Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

Science.gov (United States)

Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

2011-01-01

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10−4), oral ulcers (P = 6.9×10−4) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested. PMID:22194982

2005 Annual Operations Report for INTEC Operable Unit 3-13, Group 1, Tank Farm Interim Action

International Nuclear Information System (INIS)

D. Shanklin

2006-01-01

This annual operations report describes the requirements followed and activities conducted to inspect, monitor, and maintain the items installed during performance of the Waste Area Group 3, Operable Unit 3-13, Group 1, Tank Farm Interim Action, at the Idaho Nuclear Technology and Engineering Center. This report describes inspection and monitoring activities for the surface-sealed areas within the tank farm, concrete-lined ditches and culverts in and around the tank farm, the lift station, and the lined evaporation pond. These activities are intended to assure that the interim action is functioning adequately to meet the objectives stated in the Operable Unit 3-13, Record of Decision for the Group 1, Tank Farm Interim Action, (DOE/ID-10660) and as amended by the agreement to resolve dispute, which was effective in February 2003

Centralized interim storage facility for radioactive wastes at Wuerenlingen (ZWILAG)

International Nuclear Information System (INIS)

Lutz, H.R.; Schnetzler, U.

1994-01-01

Radioactive waste management in Switzerland is the responsibility of the waste producers; in this respect, the law requires permanent, safe management of the wastes by means of final disposal. Nagra is responsible for the research and development work associated with final disposal. Processing of the wastes into a form suitable for disposal, as well as interim storage, remain the responsibility of the waste producers. In order to supplement the existing conditioning and storage facilities at the nuclear power plants and to replace the outdated waste treatment plant at the Paul Scherrer Institute (PSI) at Wuerenlingen, the operators of the Swiss nuclear power plants are planning a joint treatment and storage facility at the PSI-East site. The organisation ''Zwischenlager Wuerenlingen AG'', which was set up at the beginning of 1990, has been entrusted with this task. (author) 4 figs

Characterization of clinical and genetic risk factors associated with dyslipidemia after kidney transplantation.

Science.gov (United States)

Numakura, Kazuyuki; Kagaya, Hideaki; Yamamoto, Ryohei; Komine, Naoki; Saito, Mitsuru; Hiroshi, Tsuruta; Akihama, Susumu; Inoue, Takamitsu; Narita, Shintaro; Tsuchiya, Norihiko; Habuchi, Tomonori; Niioka, Takenori; Miura, Masatomo; Satoh, Shigeru

2015-01-01

We determined the prevalence of dyslipidemia in a Japanese cohort of renal allograft recipients and investigated clinical and genetic characteristics associated with having the disease. In total, 126 patients that received renal allograft transplants between February 2002 and August 2011 were studied, of which 44 recipients (34.9%) were diagnosed with dyslipidemia at 1 year after transplantation. Three clinical factors were associated with a risk of having dyslipidemia: a higher prevalence of disease observed among female than male patients (P = 0.021) and treatment with high mycophenolate mofetil (P = 0.012) and prednisolone (P = 0.023) doses per body weight at 28 days after transplantation. The genetic association between dyslipidemia and 60 previously described genetic polymorphisms in 38 putative disease-associated genes was analyzed. The frequency of dyslipidemia was significantly higher in patients with the glucocorticoid receptor (NR3C1) Bcl1 G allele than in those with the CC genotype (P = 0.001). A multivariate analysis revealed that the NR3C1 Bcl1 G allele was a significant risk factor for the prevalence of dyslipidemia (odds ratio = 4.6; 95% confidence interval = 1.8-12.2). These findings may aid in predicting a patient's risk of developing dyslipidemia.

Characterization of Clinical and Genetic Risk Factors Associated with Dyslipidemia after Kidney Transplantation

Science.gov (United States)

Numakura, Kazuyuki; Kagaya, Hideaki; Yamamoto, Ryohei; Komine, Naoki; Saito, Mitsuru; Hiroshi, Tsuruta; Akihama, Susumu; Narita, Shintaro; Tsuchiya, Norihiko; Habuchi, Tomonori; Niioka, Takenori; Miura, Masatomo; Satoh, Shigeru

2015-01-01

We determined the prevalence of dyslipidemia in a Japanese cohort of renal allograft recipients and investigated clinical and genetic characteristics associated with having the disease. In total, 126 patients that received renal allograft transplants between February 2002 and August 2011 were studied, of which 44 recipients (34.9%) were diagnosed with dyslipidemia at 1 year after transplantation. Three clinical factors were associated with a risk of having dyslipidemia: a higher prevalence of disease observed among female than male patients (P = 0.021) and treatment with high mycophenolate mofetil (P = 0.012) and prednisolone (P = 0.023) doses per body weight at 28 days after transplantation. The genetic association between dyslipidemia and 60 previously described genetic polymorphisms in 38 putative disease-associated genes was analyzed. The frequency of dyslipidemia was significantly higher in patients with the glucocorticoid receptor (NR3C1) Bcl1 G allele than in those with the CC genotype (P = 0.001). A multivariate analysis revealed that the NR3C1 Bcl1 G allele was a significant risk factor for the prevalence of dyslipidemia (odds ratio = 4.6; 95% confidence interval = 1.8–12.2). These findings may aid in predicting a patient's risk of developing dyslipidemia. PMID:25944971

Interim Stabilization Equipment Essential and Support Drawing Plan

International Nuclear Information System (INIS)

KOCH, M.R.

1999-01-01

The purpose of this document is to list the Interim Stabilization equipment drawings that are classified as Essential or Support drawings. Essential Drawings: Those drawings identified by the facility staff as necessary to directly support the safe operation of the facility or equipment. Support Drawings: Those drawings identified by the facility staff that further describe the design details of structures, systems or components shown on essential drawings

Effectiveness Monitoring Report, MWMF Tritium Phytoremediation Interim Measures.

Energy Technology Data Exchange (ETDEWEB)

Hitchcock, Dan; Blake, John, I.

2003-02-10

This report describes and presents the results of monitoring activities during irrigation operations for the calendar year 2001 of the MWMF Interim Measures Tritium Phytoremediation Project. The purpose of this effectiveness monitoring report is to provide the information on instrument performance, analysis of CY2001 measurements, and critical relationships needed to manage irrigation operations, estimate efficiency and validate the water and tritium balance model.

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

OpenAIRE

Okbay, Aysu; Baselmans, B.M.L. (Bart M.L.); Neve, Jan-Emmanuel; Turley, Patrick; Nivard, Michel; Fontana, M.A. (Mark Alan); Meddens, S.F.W. (S. Fleur W.); Linnér, R.K. (Richard Karlsson); Rietveld, C.A. (Cornelius A); Derringer, J.; Gratten, Jacob; Lee, James J.; Liu, J.Z. (Jimmy Z); Vlaming, Ronald; SAhluwalia, T. (Tarunveer)

2016-01-01

textabstractVery few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associ...

Environmental survey of two interim dumpsites, Middle Atlantic Bight from 05 November 1973 to 10 November 1973 (NODC Accession 7501280)

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — A second oceanographic survey cruise was made to an interim municipal sludge dumpsite and initially to an interim dumpsite for the disposal of industrial acid waste...

Associations between Salivary Testosterone Levels, Androgen‐Related Genetic Polymorphisms, and Self‐Estimated Ejaculation Latency Time

Directory of Open Access Journals (Sweden)

Patrick Jern, PhD

2014-08-01

Conclusions: We were unable to find support for the hypothesis suggesting an association between T levels and ELT, possibly because of the low number of phenotypically extreme cases (the sample used in the present study was population based. Our results concerning genetic associations should be interpreted with caution until replication studies have been conducted. Jern P, Westberg L, Ankarberg‐Lindgren C, Johansson A, Gunst A, Sandnabba NK, and Santtila P. Associations between salivary testosterone levels, androgen‐related genetic polymorphisms, and self‐estimated ejaculation latency time. Sex Med 2014;2:107–114.

Investigation of Genetic Variants Associated with Alzheimer Disease in Parkinson Disease Cognition.

Science.gov (United States)

Barrett, Matthew J; Koeppel, Alexander F; Flanigan, Joseph L; Turner, Stephen D; Worrall, Bradford B

2016-01-01

Meta-analysis of genome-wide association studies have implicated multiple single nucleotide polymorphisms (SNPs) and associated genes with Alzheimer disease. The role of these SNPs in cognitive impairment in Parkinson disease (PD) remains incompletely evaluated. The objective of this study was to test alleles associated with risk of Alzheimer disease for association with cognitive impairment in Parkinson disease (PD). Two datasets with PD subjects accessed through the NIH database of Genotypes and Phenotypes contained both single nucleotide polymorphism (SNP) arrays and mini-mental state exam (MMSE) scores. Genetic data underwent rigorous quality control and we selected SNPs for genes associated with AD other than APOE. We constructed logistic regression and ordinal regression models, adjusted for sex, age at MMSE, and duration of PD, to assess the association between selected SNPs and MMSE score. In one dataset, PICALM rs3851179 was associated with cognitive impairment (MMSE  70 years old (OR = 2.3; adjusted p-value = 0.017; n = 250) but not in PD subjects ≤ 70 years old. Our finding suggests that PICALM rs3851179 could contribute to cognitive impairment in older patients with PD. It is important that future studies consider the interaction of age and genetic risk factors in the development of cognitive impairment in PD.

Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti–dsDNA Autoantibody Production

Science.gov (United States)

Chung, Sharon A.; Taylor, Kimberly E.; Graham, Robert R.; Nititham, Joanne; Lee, Annette T.; Ortmann, Ward A.; Jacob, Chaim O.; Alarcón-Riquelme, Marta E.; Tsao, Betty P.; Harley, John B.; Gaffney, Patrick M.; Moser, Kathy L.; Petri, Michelle; Demirci, F. Yesim; Kamboh, M. Ilyas; Manzi, Susan; Gregersen, Peter K.; Langefeld, Carl D.; Behrens, Timothy W.; Criswell, Lindsey A.

2011-01-01

Systemic lupus erythematosus (SLE) is a clinically heterogeneous, systemic autoimmune disease characterized by autoantibody formation. Previously published genome-wide association studies (GWAS) have investigated SLE as a single phenotype. Therefore, we conducted a GWAS to identify genetic factors associated with anti–dsDNA autoantibody production, a SLE–related autoantibody with diagnostic and clinical importance. Using two independent datasets, over 400,000 single nucleotide polymorphisms (SNPs) were studied in a total of 1,717 SLE cases and 4,813 healthy controls. Anti–dsDNA autoantibody positive (anti–dsDNA +, n = 811) and anti–dsDNA autoantibody negative (anti–dsDNA –, n = 906) SLE cases were compared to healthy controls and to each other to identify SNPs associated specifically with these SLE subtypes. SNPs in the previously identified SLE susceptibility loci STAT4, IRF5, ITGAM, and the major histocompatibility complex were strongly associated with anti–dsDNA + SLE. Far fewer and weaker associations were observed for anti–dsDNA – SLE. For example, rs7574865 in STAT4 had an OR for anti–dsDNA + SLE of 1.77 (95% CI 1.57–1.99, p = 2.0E-20) compared to an OR for anti–dsDNA – SLE of 1.26 (95% CI 1.12–1.41, p = 2.4E-04), with pheterogeneity<0.0005. SNPs in the SLE susceptibility loci BANK1, KIAA1542, and UBE2L3 showed evidence of association with anti–dsDNA + SLE and were not associated with anti–dsDNA – SLE. In conclusion, we identified differential genetic associations with SLE based on anti–dsDNA autoantibody production. Many previously identified SLE susceptibility loci may confer disease risk through their role in autoantibody production and be more accurately described as autoantibody propensity loci. Lack of strong SNP associations may suggest that other types of genetic variation or non-genetic factors such as environmental exposures have a greater impact on susceptibility to anti–dsDNA – SLE. PMID

Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Directory of Open Access Journals (Sweden)

Sharon A Chung

2011-03-01

Full Text Available Systemic lupus erythematosus (SLE is a clinically heterogeneous, systemic autoimmune disease characterized by autoantibody formation. Previously published genome-wide association studies (GWAS have investigated SLE as a single phenotype. Therefore, we conducted a GWAS to identify genetic factors associated with anti-dsDNA autoantibody production, a SLE-related autoantibody with diagnostic and clinical importance. Using two independent datasets, over 400,000 single nucleotide polymorphisms (SNPs were studied in a total of 1,717 SLE cases and 4,813 healthy controls. Anti-dsDNA autoantibody positive (anti-dsDNA +, n = 811 and anti-dsDNA autoantibody negative (anti-dsDNA -, n = 906 SLE cases were compared to healthy controls and to each other to identify SNPs associated specifically with these SLE subtypes. SNPs in the previously identified SLE susceptibility loci STAT4, IRF5, ITGAM, and the major histocompatibility complex were strongly associated with anti-dsDNA + SLE. Far fewer and weaker associations were observed for anti-dsDNA - SLE. For example, rs7574865 in STAT4 had an OR for anti-dsDNA + SLE of 1.77 (95% CI 1.57-1.99, p = 2.0E-20 compared to an OR for anti-dsDNA - SLE of 1.26 (95% CI 1.12-1.41, p = 2.4E-04, with p(heterogeneity<0.0005. SNPs in the SLE susceptibility loci BANK1, KIAA1542, and UBE2L3 showed evidence of association with anti-dsDNA + SLE and were not associated with anti-dsDNA - SLE. In conclusion, we identified differential genetic associations with SLE based on anti-dsDNA autoantibody production. Many previously identified SLE susceptibility loci may confer disease risk through their role in autoantibody production and be more accurately described as autoantibody propensity loci. Lack of strong SNP associations may suggest that other types of genetic variation or non-genetic factors such as environmental exposures have a greater impact on susceptibility to anti-dsDNA - SLE.

Genetic Determinants of Cardio-Metabolic Risk: A Proposed Model for Phenotype Association and Interaction

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2012-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus it follows that the genetics of dyslipidemia, obesity, and non-alcoholic fatty liver (NAFLD) disease are central in triggering progression of the syndrome to overt expression of disease traits, and have become a key focus of interest for early detection and for designing prevention and treatments. To support the “birds’ eye view” approach we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacological targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. PMID:23351585

Surface Water Interim Measures/Interim Remedial Action Plan/ Environmental and Decision Document, South Walnut Creek Basin, Operable Unit No.2

International Nuclear Information System (INIS)

1991-01-01

Water quality investigations have identified the presence of volatile organic compound (VOC) and radionuclide contamination of surface water at the Rocky Flats Plant (RFP). The subject interim Measures/Interim Remedial Action Plan/Environmental Assessment (IM/IRAP/EA) addresses contaminated surface water in a portion of the South Walnut Creek drainage basin located within an area identified as Operable Unit No. 2 (OU 2). There is no immediate threat to public health and the environment posed by this surface water contamination. The affected surface water is contained within the plant boundary by existing detention ponds, and is treated prior to discharge for removal of volatile contaminants and suspended particulates to which radionuclides, if present, are likely to absorb. However, there is a potential threat and the Department of Energy (DOE) is implementing this Surface Water IM/IRAP at the request of the US Environmental Protection Agency (EPA) and Colorado Department of Health (CDH). Implementation of the Surface Water IM/IRA will enhance the DOE's efforts towards containing and managing contaminated surface water, and will mitigate downgradient migration of contaminants. Another factor in implementing this IM/IRA is the length of time it will take to complete the investigations and engineering studies necessary to determine the final remedy for OU 2. 44 refs., 23 figs., 14 tabs

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

Science.gov (United States)

Beaumont, Robin N; Warrington, Nicole M; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C; Paternoster, Lavinia; Bradfield, Jonathan P; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L; Painter, Jodie N; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J; Espinosa, Ana; Marsh, Julie A; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M; Jones, Samuel E; Kogevinas, Manolis; Lind, Penelope A; Marullo, Letizia; Medland, Sarah E; Murray, Anna; Murray, Jeffrey C; Njølstad, Pål R; Nohr, Ellen A; Reichetzeder, Christoph; Ring, Susan M; Ruth, Katherine S; Santa-Marina, Loreto; Scholtens, Denise M; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A; Vaudel, Marc; Weedon, Michael N; Willemsen, Gonneke; Wood, Andrew R; Yaghootkar, Hanieh; Muglia, Louis J; Bartels, Meike; Relton, Caroline L; Pennell, Craig E; Chatzi, Leda; Estivill, Xavier; Holloway, John W; Boomsma, Dorret I; Montgomery, Grant W; Murabito, Joanne M; Spector, Tim D; Power, Christine; Järvelin, Marjo-Ritta; Bisgaard, Hans; Grant, Struan F A; Sørensen, Thorkild I A; Jaddoe, Vincent W; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I; Hattersley, Andrew T; Hayes, M Geoffrey; Frayling, Timothy M; Hivert, Marie-France; Felix, Janine F; Hyppönen, Elina; Lowe, William L; Evans, David M; Lawlor, Debbie A; Feenstra, Bjarke

2018-01-01

Abstract Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 × 10−8. In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights. PMID:29309628

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

NARCIS (Netherlands)

T. Tanaka (Toshiko); J.S. Ngwa; F.J.A. van Rooij (Frank); M.C. Zillikens (Carola); M.K. Wojczynski (Mary ); A.C. Frazier-Wood (Alexis); D.K. Houston (Denise); S. Kanoni (Stavroula); R.N. Lemaitre (Rozenn ); J. Luan; V. Mikkilä (Vera); F. Renström (Frida); E. Sonestedt (Emily); J.H. Zhao (Jing Hua); A.Y. Chu (Audrey); L. Qi (Lu); D.I. Chasman (Daniel); M.C. De Oliveira Otto (Marcia); E.J. Dhurandhar (Emily); M.F. Feitosa (Mary Furlan); I. Johansson (Ingegerd); K-T. Khaw (Kay-Tee); K. Lohman (Kurt); A. Manichaikul (Ani); N.M. McKeown (Nicola ); D. Mozaffarian (Dariush); A.B. Singleton (Andrew); K. Stirrups (Kathy); J. Viikari (Jorma); Z. Ye (Zheng); S. Bandinelli (Stefania); I.E. Barroso (Inês); P. Deloukas (Panagiotis); N.G. Forouhi (Nita); A. Hofman (Albert); Y. Liu (YongMei); L.-P. Lyytikäinen (Leo-Pekka); K.E. North (Kari); M. Dimitriou (Maria); G. Hallmans (Göran); M. Kähönen (Mika); C. Langenberg (Claudia); J.M. Ordovas (Jose); A.G. Uitterlinden (André); F.B. Hu (Frank); I.-P. Kalafati (Ioanna-Panagiota); O. Raitakari (Olli); O.H. Franco (Oscar); A. Johnson (Anthony); V. Emilsson (Valur); J.A. Schrack (Jennifer); R.D. Semba; D.S. Siscovick (David); D.K. Arnett (Donna); I.B. Borecki (Ingrid); P.W. Franks (Paul); S.B. Kritchevsky (Stephen); R.J.F. Loos (Ruth); M. Orho-Melander (Marju); J.I. Rotter (Jerome); N.J. Wareham (Nick); J.C.M. Witteman (Jacqueline); L. Ferrucci (Luigi); G.V. Dedoussis (George); L.A. Cupples (Adrienne); J.A. Nettleton (Jennifer )

2013-01-01

textabstractBackground: Macronutrient intake varies substantially between individuals, and there is evidence that this variation is partly accounted for by genetic variants. Objective: The objective of the study was to identify common genetic variants that are associated with macronutrient intake.

Heritability and confirmation of genetic association studies for childhood asthma in twins.

Science.gov (United States)

Ullemar, V; Magnusson, P K E; Lundholm, C; Zettergren, A; Melén, E; Lichtenstein, P; Almqvist, C

2016-02-01

Although the genetics of asthma has been extensively studied using both quantitative and molecular genetic analysis methods, both approaches lack studies specific to the childhood phenotype and including other allergic diseases. This study aimed to give specific estimates for the heritability of childhood asthma and other allergic diseases, to attempt to replicate findings from genomewide association studies (GWAS) for childhood asthma and to test the same variants against other allergic diseases. In a cohort of 25 306 Swedish twins aged 9 or 12 years, data on asthma were available from parental interviews and population-based registers. The interviews also inquired about wheeze, hay fever, eczema, and food allergy. Through structural equation modeling, the heritability of all phenotypes was calculated. A subset of 10 075 twins was genotyped for 16 single nucleotide polymorphisms (SNPs) selected from previous GWAS; these were first tested for association with asthma and significant findings also against the other allergic diseases. The heritability of any childhood asthma was 0.82 (95% CI 0.79-0.85). For the other allergic diseases, the range was approximately 0.60-0.80. Associations for six SNPs with asthma were replicated, including rs2305480 in the GSDMB gene (OR 0.80, 95% CI 0.74-0.86, P = 1.5*10(-8) ; other significant associations all below P = 3.5*10(-4) ). Of these, only rs3771180 in IL1RL1 was associated with any other allergic disease (for hay fever, OR 0.64, 95% CI 0.53-0.77, P = 2.5*10(-6) ). Asthma and allergic diseases of childhood are highly heritable, and these high-risk genetic variants associated specifically with childhood asthma, except for one SNP shared with hay fever. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Early rehabilitation of facial defects using interim removable prostheses: A clinical case report

Directory of Open Access Journals (Sweden)

Vivekanandhan Ramkumar

2013-01-01

Full Text Available Surgical resection of neoplasms or malformations of the face may result in defects that are not amenable to immediate surgical reconstruction. Such defects can have a severe adverse effect on patient perceptions of body image and self-esteem. In these cases, the use of an interim removable facial prosthesis can offer a rapid alternative treatment solution. The patient may then resume social interactions more comfortably while permitting easy access to the facial defect to observe tissue healing while awaiting definitive rehabilitation. This article presents a case report describing the use of interim nasal prostheses to provide rapid patient rehabilitation of facial defects.

Basis for Interim Operation for the K-Reactor in Cold Standby

Energy Technology Data Exchange (ETDEWEB)

Shedrow, B.

1998-10-19

The Basis for Interim Operation (BIO) document for K Reactor in Cold Standby and the L- and P-Reactor Disassembly Basins was prepared in accordance with the draft DOE standard for BIO preparation (dated October 26, 1993).

Basis for Interim Operation for the K-Reactor in Cold Standby

International Nuclear Information System (INIS)

Shedrow, B.

1998-01-01

The Basis for Interim Operation (BIO) document for K Reactor in Cold Standby and the L- and P-Reactor Disassembly Basins was prepared in accordance with the draft DOE standard for BIO preparation (dated October 26, 1993)

Genetic polymorphisms associated with psoriasis and development of psoriatic arthritis in patients with psoriasis.

Science.gov (United States)

Loft, Nikolai Dyrberg; Skov, Lone; Rasmussen, Mads Kirchheiner; Gniadecki, Robert; Dam, Tomas Norman; Brandslund, Ivan; Hoffmann, Hans Jürgen; Andersen, Malene Rohr; Dessau, Ram Benny; Bergmann, Ann Christina; Andersen, Niels Møller; Abildtoft, Mikkel Kramme; Andersen, Paal Skytt; Hetland, Merete Lund; Glintborg, Bente; Bank, Steffen; Vogel, Ulla; Andersen, Vibeke

2018-01-01

Psoriasis (PsO) is a chronic inflammatory disease with predominantly cutaneous manifestations. Approximately one third of patients with PsO develop psoriatic arthritis (PsA), whereas the remaining proportion of patients has isolated cutaneous psoriasis (PsC). These two phenotypes share common immunology, but with different heredity that might in part be explained by genetic variables. Using a candidate gene approach, we studied 53 single nucleotide polymorphisms (SNPs) in 37 genes that regulate inflammation. In total, we assessed 480 patients with PsO from DERMBIO, of whom 151 had PsC for 10 years or more (PsC10), 459 patients with PsA from DANBIO, and 795 healthy controls. Using logistic regression analysis, crude and adjusted for age and gender, we assessed associations between genetic variants and PsO, PsC10, and PsA, as well as associations between genetic variants and development of PsA in PsO. Eleven polymorphisms in 10 genes were nominally associated with PsO and/or PsC and/or PsA (P psoriasis, two SNPs in the IL12B and TNF genes were associated with susceptibility of psoriasis. None of the SNPs were specifically associated with isolated cutaneous psoriasis or psoriatic arthritis.

Lessons learned from the Siting Process of an Interim Storage Facility in Spain - 12024

Energy Technology Data Exchange (ETDEWEB)

Lamolla, Meritxell Martell [MERIENCE Strategic Thinking, 08734 Olerdola, Barcelona (Spain)

2012-07-01

On 29 December 2009, the Spanish government launched a site selection process to host a centralised interim storage facility for spent fuel and high-level radioactive waste. It was an unprecedented call for voluntarism among Spanish municipalities to site a controversial facility. Two nuclear municipalities, amongst a total of thirteen municipalities from five different regions, presented their candidatures to host the facility in their territories. For two years the government did not make a decision. Only in November 30, 2011, the new government elected on 20 November 2011 officially selected a non-nuclear municipality, Villar de Canas, for hosting this facility. This paper focuses on analysing the factors facilitating and hindering the siting of controversial facilities, in particular the interim storage facility in Spain. It demonstrates that involving all stakeholders in the decision-making process should not be underestimated. In the case of Spain, all regional governments where there were candidate municipalities willing to host the centralised interim storage facility, publicly opposed to the siting of the facility. (author)

System Specification for Immobilized High-Level Waste Interim Storage

International Nuclear Information System (INIS)

CALMUS, R.B.

2000-01-01

This specification establishes the system-level functional, performance, design, interface, and test requirements for Phase 1 of the IHLW Interim Storage System, located at the Hanford Site in Washington State. The IHLW canisters will be produced at the Hanford Site by a Selected DOE contractor. Subsequent to storage the canisters will be shipped to a federal geologic repository

Lifestyle modifies obesity-associated risk of cardiovascular disease in a genetically homogeneous population

DEFF Research Database (Denmark)

Jørgensen, Marit E; Borch-Johnsen, Knut; Bjerregaard, Peter

2006-01-01

BACKGROUND: The association between obesity and cardiovascular disease risk differs across populations. Whether such differences in obesity-related risk factors exist within population groups of the same genetic origin but with differences in lifestyle remains to be determined. OBJECTIVE: The aim...... was to analyze whether obesity was associated with the same degree of metabolic disturbances in 2 groups of genetically homogeneous Inuit who were exposed to considerable differences in lifestyle. DESIGN: We studied obesity and cardiovascular disease risk factors in a cross-sectional population survey of 2311...... Inuit living in Denmark (n = 995) or Greenland (n = 1316). The participants received an oral-glucose-tolerance test. Blood tests were supplemented by structured interviews and anthropometric and blood pressure measurements. RESULTS: The trend in the association between obesity and metabolic effects...

Genetic Alterations in Gastric Cancer Associated with Helicobacter pylori Infection

Directory of Open Access Journals (Sweden)

Gonzalo Castillo-Rojas

2017-05-01

Full Text Available Gastric cancer is a world health problem and depicts the fourth leading mortality cause from malignancy in Mexico. Causation of gastric cancer is not only due to the combined effects of environmental factors and genetic variants. Recent molecular studies have transgressed a number of genes involved in gastric carcinogenesis. The aim of this review is to understand the recent basics of gene expression in the development of the process of gastric carcinogenesis. Genetic variants, polymorphisms, desoxyribonucleic acid methylation, and genes involved in mediating inflammation have been associated with the development of gastric carcinogenesis. Recently, these genes (interleukin 10, Il-17, mucin 1, β-catenin, CDX1, SMAD4, SERPINE1, hypoxia-inducible factor 1 subunit alpha, GSK3β, CDH17, matrix metalloproteinase 7, RUNX3, RASSF1A, TFF1, HAI-2, and COX-2 have been studied in association with oncogenic activation or inactivation of tumor suppressor genes. All these mechanisms have been investigated to elucidate the process of gastric carcinogenesis, as well as their potential use as biomarkers and/or molecular targets to treatment of disease.

Interim safety basis compliance matrix for Trenches 31 and 34

International Nuclear Information System (INIS)

Ames, R.R.

1994-01-01

The tables provided in this document identify the specific requirements and basis for the administrative controls established in the Westinghouse Hanford Company (WHC) Solid Waste Burial Ground (SWBG) Interim Safety Basis (ISB) for operation of the Project W-025, Mixed Waste Lined Landfill (Trenches 31 and 34). The tables document the necessary controls and implementing procedures to ensure compliance with the requirements of the ISB. These requirements provide a basis for future Unreviewed Safety Questions (USQ) screening of applicable procedure changes, proposed physical modifications, tests, experiments, and occurrences. Table 1 provides the SWBG interim Operational Safety Requirements administrative controls matrix. The specific assumptions and commitments used in the safety analysis documents applicable to disposal of mixed wastes in Trenches 31 and 34 are provided in Table 2. Table 3 is provided to document the potential engineered and administrative mitigating features identified in the Preliminary Hazard Analysis (PHA) for disposal of mixed waste

Pulmonary phenotypes associated with genetic variation in telomere-related genes.

Science.gov (United States)

Hoffman, Thijs W; van Moorsel, Coline H M; Borie, Raphael; Crestani, Bruno

2018-05-01

Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes. Genomic mutations in seven telomere-related genes cause pulmonary disease. Pulmonary phenotypes associated with these mutations range from many forms of pulmonary fibrosis to emphysema and pulmonary vascular disease. Telomere-related mutations account for up to 10% of sporadic IPF, 25% of familial IPF, 10% of connective-tissue disease-associated interstitial lung disease, and 1% of COPD. Mixed disease forms have also been found. Furthermore, SNPs in TERT, TERC, OBFC1, and RTEL1, as well as short telomere length, have been associated with several pulmonary diseases. Treatment of pulmonary disease caused by telomere-related gene variation is currently based on disease diagnosis and not on the underlying cause. Pulmonary phenotypes found in carriers of telomere-related gene mutations and SNPs are primarily pulmonary fibrosis, sometimes emphysema and rarely pulmonary vascular disease. Genotype-phenotype relations are weak, suggesting that environmental factors and genetic background of patients determine disease phenotypes to a large degree. A disease model is presented wherever genomic variation in telomere-related genes cause specific pulmonary disease phenotypes whenever triggered by environmental exposure, comorbidity, or unknown factors.

Genetic diversity and population structure of Pisum sativum accessions for marker-trait association of lipid content

Directory of Open Access Journals (Sweden)

Sajjad Ahmad

2015-06-01

Full Text Available Field pea (Pisum sativum L. is an important protein-rich pulse crop produced globally. Increasing the lipid content of Pisum seeds through conventional and contemporary molecular breeding tools may bring added value to the crop. However, knowledge about genetic diversity and lipid content in field pea is limited. An understanding of genetic diversity and population structure in diverse germplasm is important and a prerequisite for genetic dissection of complex characteristics and marker-trait associations. Fifty polymorphic microsatellite markers detecting a total of 207 alleles were used to obtain information on genetic diversity, population structure and marker-trait associations. Cluster analysis was performed using UPGMA to construct a dendrogram from a pairwise similarity matrix. Pea genotypes were divided into five major clusters. A model-based population structure analysis divided the pea accessions into four groups. Percentage lipid content in 35 diverse pea accessions was used to find potential associations with the SSR markers. Markers AD73, D21, and AA5 were significantly associated with lipid content using a mixed linear model (MLM taking population structure (Q and relative kinship (K into account. The results of this preliminary study suggested that the population could be used for marker-trait association mapping studies.

How the University of Texas system responded to the need for interim storage of low-level radioactive waste materials.

Science.gov (United States)

Emery, Robert J

2012-11-01

Faced with the prospect of being unable to permanently dispose of low-level radioactive wastes (LLRW) generated from teaching, research, and patient care activities, component institutions of the University of Texas System worked collaboratively to create a dedicated interim storage facility to be used until a permanent disposal facility became available. Located in a remote section of West Texas, the University of Texas System Interim Storage Facility (UTSISF) was licensed and put into operation in 1993, and since then has provided safe and secure interim storage for up to 350 drums of dry solid LLRW at any given time. Interim storage capability provided needed relief to component institutions, whose on-site waste facilities could have possibly become overburdened. Experiences gained from the licensing and operation of the site are described, and as a new permanent LLRW disposal facility emerges in Texas, a potential new role for the storage facility as a surge capacity storage site in times of natural disasters and emergencies is also discussed.

Interim reliability evaluation program, Browns Ferry fault trees

International Nuclear Information System (INIS)

Stewart, M.E.

1981-01-01

An abbreviated fault tree method is used to evaluate and model Browns Ferry systems in the Interim Reliability Evaluation programs, simplifying the recording and displaying of events, yet maintaining the system of identifying faults. The level of investigation is not changed. The analytical thought process inherent in the conventional method is not compromised. But the abbreviated method takes less time, and the fault modes are much more visible

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

DEFF Research Database (Denmark)

Gaudet, Mia M; Kirchhoff, Tomas; Green, Todd

2010-01-01

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carri...

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

DEFF Research Database (Denmark)

Gaudet, Mia M; Kirchhoff, Tomas; Green, Todd

2010-01-01

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation...

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

NARCIS (Netherlands)

C.A. Rietveld (Niels); T. Esko (Tõnu); G. Davies (Gail); T.H. Pers (Tune); P. Turley (Patrick); B. Benyamin (Beben); C.F. Chabris (Christopher F.); V. Emilsson (Valur); A.D. Johnson (Andrew); J.J. Lee (James J.); C. de Leeuw (Christiaan); R.E. Marioni (Riccardo); S.E. Medland (Sarah Elizabeth); M. Miller (Mike); O. Rostapshova (Olga); S.J. van der Lee (Sven); A.A.E. Vinkhuyzen (Anna A.); N. Amin (Najaf); D. Conley (Dalton); J. Derringer; C.M. van Duijn (Cornelia); R.S.N. Fehrmann (Rudolf); L. Franke (Lude); E.L. Glaeser (Edward L.); N.K. Hansell (Narelle); C. Hayward (Caroline); W.G. Iacono (William); C.A. Ibrahim-Verbaas (Carla); V.W.V. Jaddoe (Vincent); J. Karjalainen (Juha); D. Laibson (David); P. Lichtenstein (Paul); D.C. Liewald (David C.); P.K. Magnusson (Patrik); N.G. Martin (Nicholas); M. McGue (Matt); G. Mcmahon (George); N.L. Pedersen (Nancy); S. Pinker (Steven); D.J. Porteous (David J.); D. Posthuma (Danielle); F. Rivadeneira Ramirez (Fernando); B.H. Smithk (Blair H.); J.M. Starr (John); H.W. Tiemeier (Henning); N.J. Timpsonm (Nicholas J.); M. Trzaskowskin (Maciej); A.G. Uitterlinden (André); F.C. Verhulst (Frank); M.E. Ward (Mary); M.J. Wright (Margaret); G.D. Smith; I.J. Deary (Ian J.); M. Johannesson (Magnus); R. Plomin (Robert); P.M. Visscher (Peter); D.J. Benjamin (Daniel J.); D. Cesarini (David); Ph.D. Koellinger (Philipp)

2014-01-01

textabstractWe identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxyphenotype method. First, we conduct a genome-wide association study of educational attainment in a large sample (n = 106,736), which produces a set of 69

Repacking of Cobalt 60 spent sources in the central interim storage

International Nuclear Information System (INIS)

Zeleznik, N.

2003-01-01

After the transfer of the responsibility for the management of the Central interim storage for waste from small producers, located at the reactor centre in Brinje near Ljubljana, Slovenia, the national Agency for radwaste management (ARAO) started with most urgent activities to improve the utilization of the storage facility. One of the main tasks has also been the rearrangement of the already stored radioactive waste in order to reduce volume of the waste and to collect same radioisotopes in the containers. The latest campaign, performed in 2002/2003, was repacking of all Co-60 spent sealed sources in the storage facility and also at the producer's premises which were after conditioning put into two drums with concrete matrix and stored back to the Central interim storage. The preparation works together with the implementation are described in the paper. (author)

Association of Multiple Genetic Variants with the Extension and Severity of Coronary Artery Disease

Directory of Open Access Journals (Sweden)

Simone Cristina Pinto Matheus Fischer

2018-02-01

Full Text Available Abstract Background: Metabolic syndrome (MS is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis. Objectives: To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS. Methods: Patients (n = 116, 68% males aged 56 (9 years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS. Clinical and laboratory parameters, high-sensitivity C-reactive protein, thiobarbituric acid reactive substances, adiponectin, endothelial function, and the Gensini score were assessed. Polymorphisms of paraoxonase-1 (PON-1, methylenotetrahydrofolate reductase (MTHFR, endothelial nitric oxide synthase (ENOS, angiotensin-converting enzyme (ACE, angiotensin II type 1 receptor (AT1R, apolipoprotein C3 (APOC3, lipoprotein lipase (LPL were analysed by polymerase chain reaction (PCR technique, followed by the identification of restriction fragment length polymorphisms (RFLP, and a genetic score was calculated. Parametric and non-parametric tests were used, as appropriate. Significance was set at p < 0.05. Results: Polymorphisms of PON-1, MTHFR and ENOS were not in the Hardy-Weinberg equilibrium. The DD genotype of LPL was associated with higher severity and greater extension of coronary lesions. Genetic score tended to be higher in patients with Gensini score < P50 (13.7 ± 1.5 vs. 13.0 ± 1.6, p = 0.066, with an inverse correlation between genetic and Gensini scores (R = -0.194, p = 0.078. Conclusions: The LPL polymorphism contributed to the severity of coronary disease in patients with MS and recent ACS. Combined polymorphisms were associated with the extension of coronary disease, and the lower the genetic score the more severe the disease.

Evaluation of Hose in Hose Transfer Line Service Life for Hanford's Interim Stabilization Program

International Nuclear Information System (INIS)

TORRES, T.D.

2000-01-01

RPP-6153, Engineering Task Plan for Hose-in-Hose Transfer System for the Interim Stabilization Program, defines the programmatic goals, functional requirements, and technical criteria for the development and subsequent installation of transfer line equipment to support Hanford's Interim Stabilization Program. RPP-6028, Specification for Hose in Hose Transfer Lines for Hanford's Interim Stabilization Program, has been issued to define the specific requirements for the design, manufacture, and verification of transfer line assemblies for specific waste transfer applications. Included in RPP-6028 are tables defining the chemical constituents of concern to which transfer lines will be exposed. Current Interim Stabilization Program planning forecasts that the at-grade transfer lines will be required to convey pumpable waste for as much as three years after commissioning. Prudent engineering dictates that the equipment placed in service have a working life in excess of this forecasted time period, with some margin to allow for future adjustments to the planned schedule. This document evaluates the effective service life of the Hose-in-Hose Transfer Lines, based on information submitted by the manufacturer and published literature. The effective service life of transfer line assemblies is a function of several factors. Foremost among these are process fluid characteristics, ambient environmental conditions, and the manufacturer's stated shelf life. This evaluation examines the manufacturer's certification of shelf life, the manufacturer's certifications of chemical compatibility with waste, and published literature on the effects of exposure to ionizing radiation on the mechanical properties of elastomeric materials to evaluate transfer line service life

Radiation shielding and dose rate evaluation at the interim storage facility for spent fuel from Cernavoda NPP

International Nuclear Information System (INIS)

Stanciu, Marcela; Mateescu, Silvia; Pantazi, Doina; Penescu, Maria

2000-01-01

At present studies necessary to license the Interim Storage Facility for the Spent Fuel (CANDU type) from Cernavoda NPP are developed in our country.The spent fuel from Cernavoda NPP is discharged into Spent Fuel Bay in Service Building of the plant, where it remains several years for cooling. After this period, the bundles of spent fuel are to be transferred to the Interim Storage Facility.The dry interim storage solution seems to be the most appropriate variant for Cernavoda NPP.The design of the Spent Fuel Interim Storage Facility must meet the applicable safety requirements in order to ensure radiological protection of the personnel, public and environment during all phases of the facility achievement. In this paper we intend to present the calculation of radiation shielding at the spent fuel interim storage facility for two technical solutions: - Concrete Monolithic Module and Concrete Storage Cask. In order to quantify the fuel composition after irradiation, the isotope generation and depletion code ORIGEN 2.1 has been used, taking into account a cooling time of 7 years and 9 years, respectively, for these two variants. The shielding calculations have been performed using the computer codes QAD-5K and MICROSHIELD-4. The evaluations refer only to gamma radiation because the resulting neutron source (from (α,n) reactions and spontaneous fission) is insignificant as compared to the gamma source. The final results consist in the minimum thickness of the shielding and the corresponding external dose rates, ensuring a design average dose rate based on national and international regulations. (authors)

Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.

Science.gov (United States)

Carty, Cara L; Keene, Keith L; Cheng, Yu-Ching; Meschia, James F; Chen, Wei-Min; Nalls, Mike; Bis, Joshua C; Kittner, Steven J; Rich, Stephen S; Tajuddin, Salman; Zonderman, Alan B; Evans, Michele K; Langefeld, Carl D; Gottesman, Rebecca; Mosley, Thomas H; Shahar, Eyal; Woo, Daniel; Yaffe, Kristine; Liu, Yongmei; Sale, Michèle M; Dichgans, Martin; Malik, Rainer; Longstreth, W T; Mitchell, Braxton D; Psaty, Bruce M; Kooperberg, Charles; Reiner, Alexander; Worrall, Bradford B; Fornage, Myriam

2015-08-01

The majority of genome-wide association studies (GWAS) of stroke have focused on European-ancestry populations; however, none has been conducted in African Americans, despite the disproportionately high burden of stroke in this population. The Consortium of Minority Population Genome-Wide Association Studies of Stroke (COMPASS) was established to identify stroke susceptibility loci in minority populations. Using METAL, we conducted meta-analyses of GWAS in 14 746 African Americans (1365 ischemic and 1592 total stroke cases) from COMPASS, and tested genetic variants with Pstroke genetic studies in European-ancestry populations. We also evaluated stroke loci previously identified in European-ancestry populations. The 15q21.3 locus linked with lipid levels and hypertension was associated with total stroke (rs4471613; P=3.9×10(-8)) in African Americans. Nominal associations (Pstroke were observed for 18 variants in or near genes implicated in cell cycle/mRNA presplicing (PTPRG, CDC5L), platelet function (HPS4), blood-brain barrier permeability (CLDN17), immune response (ELTD1, WDFY4, and IL1F10-IL1RN), and histone modification (HDAC9). Two of these loci achieved nominal significance in METASTROKE: 5q35.2 (P=0.03), and 1p31.1 (P=0.018). Four of 7 previously reported ischemic stroke loci (PITX2, HDAC9, CDKN2A/CDKN2B, and ZFHX3) were nominally associated (Pstroke in COMPASS. We identified a novel genetic variant associated with total stroke in African Americans and found that ischemic stroke loci identified in European-ancestry populations may also be relevant for African Americans. Our findings support investigation of diverse populations to identify and characterize genetic risk factors, and the importance of shared genetic risk across populations. © 2015 American Heart Association, Inc.

Department of Energy Plutonium ES ampersand H Vulnerability Assessment Savannah River Site interim compensatory measures

International Nuclear Information System (INIS)

Bickford, W.E.

1994-01-01

The Savannah River Site (SRS) has recently completed a self-assessment of potential vulnerabilities associated with plutonium and other transuranic materials stored at the site. An independent Working Group Assessment Team (WGAT) appointed by DOE/ES ampersand H also performed an independent assessment, and reviewed and validated the site self-assessment. The purpose of this report is to provide a status of interim compensatory measures at SRS to address hazards in advance of any corrective actions. ES ampersand H has requested this status for all vulnerabilities ranked medium or higher with respect to potential consequences to workers, environment, and the public

Genetic Variants in Transcription Factors Are Associated With the Pharmacokinetics and Pharmacodynamics of Metformin

Science.gov (United States)

Goswami, S; Yee, SW; Stocker, S; Mosley, JD; Kubo, M; Castro, R; Mefford, JA; Wen, C; Liang, X; Witte, J; Brett, C; Maeda, S; Simpson, MD; Hedderson, MM; Davis, RL; Roden, DM; Giacomini, KM; Savic, RM

2014-01-01

One-third of type 2 diabetes patients do not respond to metformin. Genetic variants in metformin transporters have been extensively studied as a likely contributor to this high failure rate. Here, we investigate, for the first time, the effect of genetic variants in transcription factors on metformin pharmacokinetics (PK) and response. Overall, 546 patients and healthy volunteers contributed their genome-wide, pharmacokinetic (235 subjects), and HbA1c data (440 patients) for this analysis. Five variants in specificity protein 1 (SP1), a transcription factor that modulates the expression of metformin transporters, were associated with changes in treatment HbA1c (P < 0.01) and metformin secretory clearance (P < 0.05). Population pharmacokinetic modeling further confirmed a 24% reduction in apparent clearance in homozygous carriers of one such variant, rs784888. Genetic variants in other transcription factors, peroxisome proliferator–activated receptor-α and hepatocyte nuclear factor 4-α, were significantly associated with HbA1c change only. Overall, our study highlights the importance of genetic variants in transcription factors as modulators of metformin PK and response. PMID:24853734

A weighted U-statistic for genetic association analyses of sequencing data.

Science.gov (United States)

Wei, Changshuai; Li, Ming; He, Zihuai; Vsevolozhskaya, Olga; Schaid, Daniel J; Lu, Qing

2014-12-01

With advancements in next-generation sequencing technology, a massive amount of sequencing data is generated, which offers a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex diseases. Nevertheless, the high-dimensional sequencing data poses a great challenge for statistical analysis. The association analyses based on traditional statistical methods suffer substantial power loss because of the low frequency of genetic variants and the extremely high dimensionality of the data. We developed a Weighted U Sequencing test, referred to as WU-SEQ, for the high-dimensional association analysis of sequencing data. Based on a nonparametric U-statistic, WU-SEQ makes no assumption of the underlying disease model and phenotype distribution, and can be applied to a variety of phenotypes. Through simulation studies and an empirical study, we showed that WU-SEQ outperformed a commonly used sequence kernel association test (SKAT) method when the underlying assumptions were violated (e.g., the phenotype followed a heavy-tailed distribution). Even when the assumptions were satisfied, WU-SEQ still attained comparable performance to SKAT. Finally, we applied WU-SEQ to sequencing data from the Dallas Heart Study (DHS), and detected an association between ANGPTL 4 and very low density lipoprotein cholesterol. © 2014 WILEY PERIODICALS, INC.

Feto-maternal haemorrhage associated with genetic amniocentesis

DEFF Research Database (Denmark)

Tabor, A; Bang, J; Nørgaard-Pedersen, B

1987-01-01

Maternal serum alpha-fetoprotein (AFP) levels were determined before and after genetic amniocentesis (n = 283) or ultrasound scan (n = 268) in a group of women participating in a randomized trial of genetic amniocentesis. Increases in AFP levels were seen significantly more often after amniocente......Maternal serum alpha-fetoprotein (AFP) levels were determined before and after genetic amniocentesis (n = 283) or ultrasound scan (n = 268) in a group of women participating in a randomized trial of genetic amniocentesis. Increases in AFP levels were seen significantly more often after...

The Genetic Association Between Neocortical Volume and General Cognitive Ability Is Driven by Global Surface Area Rather Than Thickness.

Science.gov (United States)

Vuoksimaa, Eero; Panizzon, Matthew S; Chen, Chi-Hua; Fiecas, Mark; Eyler, Lisa T; Fennema-Notestine, Christine; Hagler, Donald J; Fischl, Bruce; Franz, Carol E; Jak, Amy; Lyons, Michael J; Neale, Michael C; Rinker, Daniel A; Thompson, Wesley K; Tsuang, Ming T; Dale, Anders M; Kremen, William S

2015-08-01

Total gray matter volume is associated with general cognitive ability (GCA), an association mediated by genetic factors. It is expectable that total neocortical volume should be similarly associated with GCA. Neocortical volume is the product of thickness and surface area, but global thickness and surface area are unrelated phenotypically and genetically in humans. The nature of the genetic association between GCA and either of these 2 cortical dimensions has not been examined. Humans possess greater cognitive capacity than other species, and surface area increases appear to be the primary driver of the increased size of the human cortex. Thus, we expected neocortical surface area to be more strongly associated with cognition than thickness. Using multivariate genetic analysis in 515 middle-aged twins, we demonstrated that both the phenotypic and genetic associations between neocortical volume and GCA are driven primarily by surface area rather than thickness. Results were generally similar for each of 4 specific cognitive abilities that comprised the GCA measure. Our results suggest that emphasis on neocortical surface area, rather than thickness, could be more fruitful for elucidating neocortical-GCA associations and identifying specific genes underlying those associations. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Significance of genetic variants in DLC1 and their association with hepatocellular carcinoma

Science.gov (United States)

XIE, CHENG-RONG; SUN, HONG-GUANG; SUN, YU; ZHAO, WEN-XIU; ZHANG, SHENG; WANG, XIAO-MIN; YIN, ZHEN-YU

2015-01-01

DLC1 has been shown to be downregulated or absent in hepatocellular carcinoma (HCC) and is associated with tumorigenesis and development. However, only a small number of studies have focused on genetic variations of DLC1. The present study performed exon sequencing for the DLC1 gene in HCC tissue samples from 105 patients to identify functional genetic variation of DLC1 and its association with HCC susceptibility, clinicopathological features and prognosis. A novel missense mutation and four non-synonymous single nucleotide polymorphisms (SNPs; rs3816748, rs11203495, rs3816747 and rs532841) were identified. A significant correlation of rs3816747 polymorphisms with HCC susceptibility was identified. Compared to individuals with the GG genotype of rs3816747, those with the GA (odds ratio (OR)=0.486; P=0.037) or GA+AA genotype (OR=0.51; P=0.039) were associated with a significantly decreased HCC risk. Furthermore, patients with the GC+CC genotype of rs3816748, the TC+CC genotype of rs11203495 or the GA+AA genotype of rs3816747 had small-sized tumors compared with those carrying the wild-type genotype. No significant association of DLC1 SNPs with the patients' prognosis was found. These results indicated that genetic variations in the DLC1 gene may confer a risk for HCC. PMID:26095787

Schizophrenia genetic variants are not associated with intelligence

DEFF Research Database (Denmark)

Van Scheltinga, A.F.T.; Bakker, S.C.; Van Haren, N.E.M.

2013-01-01

BACKGROUND: Schizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs......) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence. Method IQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data...... significantly more genes were disrupted by deletions in schizophrenia patients compared to controls (p = 0.009), there was no effect of CNV measures on IQ. The PSS was associated with disease status (R 2 = 0.055, p = 2.1 × 10-7) and with IQ in the entire sample (R 2 = 0.018, p = 0.0008) but the effect on IQ...

Eleven loci with new reproducible genetic associations with allergic disease risk

NARCIS (Netherlands)

Ferreira, Manuel A.R.; Vonk, Judith M; Baurecht, Hansjörg; Marenholz, Ingo; Tian, Chao; Hoffman, Joshua D; Helmer, Quinta; Tillander, Annika; Ullemar, Vilhelmina; Lu, Yi; Rüschendorf, Franz; Hinds, David A; Hübner, Norbert; Weidinger, Stephan; Magnusson, Patrik Ke; Jorgenson, Eric; Lee, Young-Ae; Boomsma, Dorret I; Karlsson, Robert; Almqvist, Catarina; Koppelman, Gerard H; Paternoster, Lavinia

2018-01-01

BACKGROUND: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities.

Immobilized High-Level Waste (HLW) Interim Storage Alternative Generation and analysis and Decision Report - second Generation Implementing Architecture

International Nuclear Information System (INIS)

CALMUS, R.B.

2000-01-01

Two alternative approaches were previously identified to provide second-generation interim storage of Immobilized High-Level Waste (IHLW). One approach was retrofit modification of the Fuel and Materials Examination Facility (FMEF) to accommodate IHLW. The results of the evaluation of the FMEF as the second-generation IHLW interim storage facility and subsequent decision process are provided in this document

In-situ storage: An approach to interim remedial action - recent case studies in Canada

International Nuclear Information System (INIS)

Zelmer, R.L.

1991-01-01

The Low-Level Radioactive Waste Management Office (LLRWMO) acts on behalf of the federal government to manage historic low-level radioactive wastes. Recent interim remedial work in the Town of Port Hope, Ontario has included the consolidation of radium and uranium contaminated soils into temporary storage facilities on two sites to await final disposal elsewhere. Simple containments constructed and sited on already contaminated sites have been found effective as part of an interim remedial strategy. The approach has been accepted and supported by the local public. Lessons have been learned from a project management, environmental remediation and engineering design point of view

Are Associations between Parental Divorce and Children's Adjustment Genetically Mediated? An Adoption Study.

Science.gov (United States)

O'Connor, Thomas G.; Caspi, Avshalom; DeFries, John C.; Plomin, Robert

2000-01-01

Data from Colorado Adoption Project were used to examine hypothesis that association between parental divorce and children's adjustment is mediated by genetic factors. Findings for psychopathology were consistent with an environmentally mediated explanation for the association. Findings for achievement and social adjustment were consistent with a…

Conceptual design report for regional low-level waste interim storage site

International Nuclear Information System (INIS)

Bird, M.V.; Thompson, J.D.

1981-08-01

An interim storage site design concept was developed for receiving 100,000 ft 3 low-level waste per year, in the form of solidified wastes in 55-gallon drums with a dose rate of < 200 mrem per hour at contact

Genetic association between leg conformation in young pigs and sow reproduction

DEFF Research Database (Denmark)

Le, Thu Hong; Nilsson, Katja; Norberg, Elise

2015-01-01

Lameness is an issue of concern in pig production due both to animal welfare and to economical aspects. Lame sows are believed to suffer from pain and stress which is reported to have a negative influence on reproduction. Leg conformation and locomotion traits in young animals are associated...... with the risk of lameness at higher age. The purpose of this study was to estimate the genetic parameters of leg conformation traits recorded at performance testing (around 5 months of age) and their genetic correlations with reproduction traits. Information on leg conformation traits from 123,307 pigs scored...... and on reproduction traits from 22,204 litters in the first and second parity from Swedish Yorkshire nucleus herds were available for genetic analysis. Eight conformation and locomotion traits, coming from the old or the new scoring system in Sweden, included old movement, old overall leg score, new movement, new...

Interim Design Report

CERN Document Server

Choubey, S.; Goswami, S.; Berg, J.S.; Fernow, R.; Gallardo, J.C.; Gupta, R.; Kirk, H.; Simos, N.; Souchlas, N.; Ellis, M.; Kyberd, P.; Benedetto, E.; Fernandez-Martinez, E.; Efthymiopoulos, I.; Garoby, R.; Gilardoni, S.; Martini, M.; Prior, G.; Ballett, P.; Pascoli, S.; Bross, A.; Geer, S.; Johnstone, C.; Kopp, J.; Mokhov, N.; Morfin, J.; Neuffer, D.; Parke, S.; Popovic, M.; Strait, J.; Striganov, S.; Blondel, A.; Dufour, F.; Laing, A.; Soler, F.J.P; Lindner, M.; Schwetz, T.; Alekou, A.; Apollonio, M.; Aslaninejad, M.; Bontoiu, C.; Dornan, P.; Eccleston, R.; Kurup, A.; Long, K.; Pasternak, J.; Pozimski, J.; Bogacz, A.; Morozov, V.; Roblin, Y.; Bhattacharya, S.; Majumdar, D.; Mori, Y.; Planche, T.; Zisman, M.; Cline, D.; Stratakis, D.; Ding, X.; Coloma, P.; Donini, A.; Gavela, B.; Lopez Pavon, J.; Maltoni, M.; Bromberg, C.; Bonesini, M.; Hart, T.; Kudenko, Y.; Mondal, N.; Antusch, S.; Blennow, M.; Ota, T.; Abrams, R.J.; Ankenbrandt, C.M.; Beard, K.B.; Cummings, M.A.C.; Flanagan, G.; Johnson, R.P.; Roberts, T.J.; Yoshikawa, C.Y.; Migliozzi, P.; Palladino, V.; de Gouvea, A.; Graves, V.B.; Kuno, Y.; Peltoniemi, J.; Blackmore, V.; Cobb, J.; Witte, H.; Mezzetto, M.; Rigolin, S.; McDonald, K.T.; Coney, L.; Hanson, G.; Snopok, P.; Tortora, L.; Andreopoulos, C.; Bennett, J.R.J.; Brooks, S.; Caretta, O.; Davenne, T.; Densham, C.; Edgecock, R.; Kelliher, D.; Loveridge, P.; McFarland, A.; Machida, S.; Prior, C.; Rees, G.; Rogers, C.; Thomason, J.W.G.; Booth, C.; Skoro, G.; Karadzhov, Y.; Matev, R.; Tsenov, R.; Samulyak, R.; Mishra, S.R.; Petti, R.; Dracos, M.; Yasuda, O.; Agarwalla, S.K.; Cervera-Villanueva, A.; Gomez-Cadenas, J.J.; Hernandez, P.; Li, T.; Martin-Albo, J.; Huber, P.; Back, J.; Barker, G.; Harrison, P.; Meloni, D.; Tang, J.; Winter, W.

2011-01-01

The International Design Study for the Neutrino Factory (the IDS-NF) was established by the community at the ninth "International Workshop on Neutrino Factories, super-beams, and beta- beams" which was held in Okayama in August 2007. The IDS-NF mandate is to deliver the Reference Design Report (RDR) for the facility on the timescale of 2012/13. In addition, the mandate for the study [3] requires an Interim Design Report to be delivered midway through the project as a step on the way to the RDR. This document, the IDR, has two functions: it marks the point in the IDS-NF at which the emphasis turns to the engineering studies required to deliver the RDR and it documents baseline concepts for the accelerator complex, the neutrino detectors, and the instrumentation systems. The IDS-NF is, in essence, a site-independent study. Example sites, CERN, FNAL, and RAL, have been identified to allow site-specific issues to be addressed in the cost analysis that will be presented in the RDR. The choice of example sites shou...

Efficient multiple-trait association and estimation of genetic correlation using the matrix-variate linear mixed model.

Science.gov (United States)

Furlotte, Nicholas A; Eskin, Eleazar

2015-05-01

Multiple-trait association mapping, in which multiple traits are used simultaneously in the identification of genetic variants affecting those traits, has recently attracted interest. One class of approaches for this problem builds on classical variance component methodology, utilizing a multitrait version of a linear mixed model. These approaches both increase power and provide insights into the genetic architecture of multiple traits. In particular, it is possible to estimate the genetic correlation, which is a measure of the portion of the total correlation between traits that is due to additive genetic effects. Unfortunately, the practical utility of these methods is limited since they are computationally intractable for large sample sizes. In this article, we introduce a reformulation of the multiple-trait association mapping approach by defining the matrix-variate linear mixed model. Our approach reduces the computational time necessary to perform maximum-likelihood inference in a multiple-trait model by utilizing a data transformation. By utilizing a well-studied human cohort, we show that our approach provides more than a 10-fold speedup, making multiple-trait association feasible in a large population cohort on the genome-wide scale. We take advantage of the efficiency of our approach to analyze gene expression data. By decomposing gene coexpression into a genetic and environmental component, we show that our method provides fundamental insights into the nature of coexpressed genes. An implementation of this method is available at http://genetics.cs.ucla.edu/mvLMM. Copyright © 2015 by the Genetics Society of America.

Safety of interim storage solutions of used nuclear fuel during extended term

Energy Technology Data Exchange (ETDEWEB)

Shelton, C.; Bader, S.; Issard, H.; Arslan, M. [AREVA, 7135 Minstrel Way, Suite 300 Columbia, MD 21045 (United States)

2013-07-01

In 2013, the total amount of stored used nuclear fuel (UNF) in the world will reach 225,000 T HM. The UNF inventory in wet storage will take up over 80% of the available total spent fuel pool (SFP) capacity. Interim storage solutions are needed. They give flexibility to the nuclear operators and ensure that nuclear reactors continue to operate. However, we need to keep in mind that they are also an easy way to differ final decision and implementation of a UNF management approach (recycling or final disposal). In term of public perception, they can have a negative impact overtime as it may appear that nuclear industry may have significant issues to resolve. In countries lacking an integrated UNF management approach, the UNF are being discharged from the SFPs to interim storage (mostly to dry storage) at the same rate as UNF is being discharged from reactors, as the SFPs at the reactor sites are becoming full. This is now the case in USA, Taiwan, Switzerland, Spain, South Africa and Germany. For interim storage, AREVA has developed different solutions in order to allow the continued operation of reactors while meeting the current requirements of Safety Authorities: -) Dry storage canisters on pads, -) Dual-purpose casks (dry storage and transportation), -) Vault dry storage, and -) Centralized pool storage.

Genetic divergence across habitats in the widespread coral Seriatopora hystrix and its associated Symbiodinium.

Directory of Open Access Journals (Sweden)

Pim Bongaerts

2010-05-01

Full Text Available Coral reefs are hotspots of biodiversity, yet processes of diversification in these ecosystems are poorly understood. The environmental heterogeneity of coral reef environments could be an important contributor to diversification, however, evidence supporting ecological speciation in corals is sparse. Here, we present data from a widespread coral species that reveals a strong association of host and symbiont lineages with specific habitats, consistent with distinct, sympatric gene pools that are maintained through ecologically-based selection.Populations of a common brooding coral, Seriatopora hystrix, were sampled from three adjacent reef habitats (spanning a approximately 30 m depth range at three locations on the Great Barrier Reef (n = 336. The populations were assessed for genetic structure using a combination of mitochondrial (putative control region and nuclear (three microsatellites markers for the coral host, and the ITS2 region of the ribosomal DNA for the algal symbionts (Symbiodinium. Our results show concordant genetic partitioning of both the coral host and its symbionts across the different habitats, independent of sampling location.This study demonstrates that coral populations and their associated symbionts can be highly structured across habitats on a single reef. Coral populations from adjacent habitats were found to be genetically isolated from each other, whereas genetic similarity was maintained across similar habitat types at different locations. The most parsimonious explanation for the observed genetic partitioning across habitats is that adaptation to the local environment has caused ecological divergence of distinct genetic groups within S. hystrix.

2006 Annual Operations Report for INTEC Operable Unit 3-13, Group 1, Tank Farm Interim Action

International Nuclear Information System (INIS)

D. E. Shanklin

2007-01-01

This annual operations report describes the requirements followed and activities conducted to inspect, monitor, and maintain the items installed during performance of the Waste Area Group 3, Operable Unit 3-13, Group 1, Tank Farm Interim Action, at the Idaho Nuclear Technology and Engineering Center. This report covers the time period from January 1 through December 31, 2006, and describes inspection and monitoring activities for the surface-sealed areas within the tank farm, concrete-lined ditches and culverts in and around the tank farm, the lift station, and the lined evaporation pond. These activities are intended to assure that the interim action is functioning adequately to meet the objectives stated in the Operable Unit 3-13, Record of Decision for the Group 1, Tank Farm Interim Action (DOE/ID-10660) as described in the Group 1 Remedial Design/Remedial Action Work Plan (DOE/ID-10772)

Interim FEP report for the safety assessment SR-Can

Energy Technology Data Exchange (ETDEWEB)

Skagius, Kristina (ed.) [Kemakta Konsult AB, Stockholm (Sweden)

2004-08-01

This report describes the work with identification and structuring of features, events and processes (FEPs) that has been carried out within the scope of the SR-Can safety assessment up to the time of the interim reporting of the project. The overall objective of the work is to develop a database of features, events and processes in a format that would facilitate both a systematic analysis of FEPs and documentation of the FEP analysis as well as facilitate revisions and updates to be made in connection with new safety assessments. This overall objective also includes the development of procedures for a systematic FEP analysis as well as to apply these procedures in order to arrive at an SR-Can version of the FEP database. The work started by implementing the content of the SR 97 Process report into a database format suitable for import and processing of FEP information from other sources. The SR 97 version of the database was systematically audited against the NEA database with Project FEPs, version 1.2. In addition, an earlier audit of the SR 97 process report against the interaction matrices developed for a deep repository of the KBS-3 type was revisited and updated. Relevant FEPs from the audit were sorted into three main categories in the SR-Can database i) FEPs related to the initial states of the repository system, ii) FEPs related to internal processes of the repository system, and iii) FEPs related to external impacts on the repository system. These groups of FEPs were further processed for making decisions on how to handle these FEPs in the assessment. Biosphere processes were not included in the SR 97 Process report and there is thus not the same basis for updating these descriptions as for the engineered barriers and the geosphere. All biosphere FEPs from the audit have therefore been compiled in a single category in the database, but remain to be further handled. FEPs were also categorised as irrelevant or as being related to methodology on a general

Interim FEP report for the safety assessment SR-Can

International Nuclear Information System (INIS)

Skagius, Kristina

2004-08-01

This report describes the work with identification and structuring of features, events and processes (FEPs) that has been carried out within the scope of the SR-Can safety assessment up to the time of the interim reporting of the project. The overall objective of the work is to develop a database of features, events and processes in a format that would facilitate both a systematic analysis of FEPs and documentation of the FEP analysis as well as facilitate revisions and updates to be made in connection with new safety assessments. This overall objective also includes the development of procedures for a systematic FEP analysis as well as to apply these procedures in order to arrive at an SR-Can version of the FEP database. The work started by implementing the content of the SR 97 Process report into a database format suitable for import and processing of FEP information from other sources. The SR 97 version of the database was systematically audited against the NEA database with Project FEPs, version 1.2. In addition, an earlier audit of the SR 97 process report against the interaction matrices developed for a deep repository of the KBS-3 type was revisited and updated. Relevant FEPs from the audit were sorted into three main categories in the SR-Can database i) FEPs related to the initial states of the repository system, ii) FEPs related to internal processes of the repository system, and iii) FEPs related to external impacts on the repository system. These groups of FEPs were further processed for making decisions on how to handle these FEPs in the assessment. Biosphere processes were not included in the SR 97 Process report and there is thus not the same basis for updating these descriptions as for the engineered barriers and the geosphere. All biosphere FEPs from the audit have therefore been compiled in a single category in the database, but remain to be further handled. FEPs were also categorised as irrelevant or as being related to methodology on a general

40 CFR 57.302 - Performance level of interim constant controls.

Science.gov (United States)

2010-07-01

... correction of the effects of any serious deficiencies in the system. For the purpose of this paragraph, at... system if the smelter owner has not upgraded serious deficiencies in the constant control system in... 40 Protection of Environment 5 2010-07-01 2010-07-01 false Performance level of interim constant...

Acquisition of Genetic Aberrations by Activation-Induced Cytidine Deaminase (AID) during Inflammation-Associated Carcinogenesis

International Nuclear Information System (INIS)

Takai, Atsushi; Marusawa, Hiroyuki; Chiba, Tsutomu

2011-01-01

Genetic abnormalities such as nucleotide alterations and chromosomal disorders that accumulate in various tumor-related genes have an important role in cancer development. The precise mechanism of the acquisition of genetic aberrations, however, remains unclear. Activation-induced cytidine deaminase (AID), a nucleotide editing enzyme, is essential for the diversification of antibody production. AID is expressed only in activated B lymphocytes under physiologic conditions and induces somatic hypermutation and class switch recombination in immunoglobulin genes. Inflammation leads to aberrant AID expression in various gastrointestinal organs and increased AID expression contributes to cancer development by inducing genetic alterations in epithelial cells. Studies of how AID induces genetic disorders are expected to elucidate the mechanism of inflammation-associated carcinogenesis

FRACTIONAL CRYSTALLIZATION TESTING WITH INTERIM PRETREATMENT SYSTEM FEEDS

International Nuclear Information System (INIS)

HERTING DL

2008-01-01

The fractional crystallization process was developed as a pretreatment method for saltcake waste retrieved from Hanford single-shell tanks (SST). The process separates the retrieved SST waste into a high-level waste stream containing the bulk of the radionuclides and a low-activity waste stream containing the bulk of the nonradioactive sodium salts. The Interim Pretreatment System project shifted the focus on pretreatment planning from SST waste to double-shell tank waste

Dry storage of spent fuel elements: interim facility

International Nuclear Information System (INIS)

Quihillalt, O.J.

1993-01-01

Apart from the existing facilities to storage nuclear fuel elements at Argentina's nuclear power stations, a new interim storage facility has been planned and projected by the Argentinean Atomic Energy Commission (CNEA) that will be constructed by private group. This article presents the developments and describes the activities undertaken until the national policy approach to the final decision for the most suitable alternative to be adopted. (B.C.A.). 09 refs, 01 fig, 09 tabs

Interim Stabilization Equipment Essential and Support Drawing Plan

International Nuclear Information System (INIS)

HORNER, T.M.

2000-01-01

The purpose of this document is to list the Interim Stabilization equipment drawings that are classified as Essential or Support drawings. Essential Drawings are those drawings identified by the facility staff as necessary to directly support the safe operation of the facility or equipment. [CHG 2000a]. Support Drawings are those drawings identified by the facility staff that further describe the design details of structures, systems or components shown on essential drawings. [CHG 2000a

Financial compensation for municipalities hosting interim or final disposal facilities for radioactive waste

International Nuclear Information System (INIS)

Barboza, Alex; Vicente, Roberto

2005-01-01

Brazilian Law No. 10308 issued November 20, 2001, establishes in its 34th article that 'those municipalities hosting interim or final disposal facilities for radioactive waste are eligible to receive a monthly payment as compensation'. The values of due payments depend on parameters such as volume of wastes and activity and half-lives of the radionuclides. The method to calculating those values was established by the National Commission on Nuclear Energy, the Brazilian regulatory authority, by Resolution No. 10, issued in the August 18, 2003. In this paper we report the application of that method to a low- and intermediate-level radioactive waste interim storage facility at the Nuclear Energy Research Institute. (author)

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Directory of Open Access Journals (Sweden)

Ammar Al-Chalabi

Full Text Available BACKGROUND: Multiple system atrophy (MSA is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of alpha-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA. METHODOLOGY/FINDINGS: We evaluated 32 SNPs in the SNCA gene in a European population of 239 cases and 617 controls recruited as part of the Neuroprotection and Natural History in Parkinson Plus Syndromes (NNIPPS study. We used 161 independently collected samples for replication. Two SNCA SNPs showed association with MSA: rs3822086 (P = 0.0044, and rs3775444 (P = 0.012, although only the first survived correction for multiple testing. In the MSA-C subgroup the association strengthened despite more than halving the number of cases: rs3822086 P = 0.0024, OR 2.153, (95% CI 1.3-3.6; rs3775444 P = 0.0017, OR 4.386 (95% CI 1.6-11.7. A 7-SNP haplotype incorporating three SNPs either side of rs3822086 strengthened the association with MSA-C further (best haplotype, P = 8.7 x 10(-4. The association with rs3822086 was replicated in the independent samples (P = 0.035. CONCLUSIONS/SIGNIFICANCE: We report a genetic association between MSA and alpha-synuclein which has replicated in independent samples. The strongest association is with the cerebellar subtype of MSA. TRIAL REGISTRATION: ClinicalTrials.gov NCT00211224.

Psoriasis and cardiometabolic traits: modest association but distinct genetic architectures

Science.gov (United States)

Koch, Manja; Baurecht, Hansjörg; Ried, Janina S.; Rodriguez, Elke; Schlesinger, Sabrina; Volks, Natalie; Gieger, Christian; Rückert, Ina-Maria; Heinrich, Luise; Willenborg, Christina; Smith, Catherine; Peters, Annette; Thorand, Barbara; Koenig, Wolfgang; Lamina, Claudia; Jansen, Henning; Kronenberg, Florian; Seissler, Jochen; Thiery, Joachim; Rathmann, Wolfgang; Schunkert, Heribert; Erdmann, Jeanette; Barker, Jonathan; Nair, Rajan P; Tsoi, Lam C; Elder, James T; Mrowietz, Ulrich; Weichenthal, Michael; Mucha, Sören; Schreiber, Stefan; Franke, Andre; Schmitt, Jochen; Lieb, Wolfgang; Weidinger, Stephan

2015-01-01

Psoriasis has been linked to cardiometabolic diseases, but epidemiological findings are inconsistent. We investigated the association between psoriasis and cardiometabolic outcomes in a German cross-sectional study (n=4.185) and a prospective cohort of German Health Insurance beneficiaries (n=1.811.098). A potential genetic overlap was explored using genome-wide data from >22.000 coronary artery disease (CAD) and >4.000 psoriasis cases, and with a dense genotyping study of cardiometabolic risk loci on 927 psoriasis cases and 3.717 controls. Controlling for major confounders, in the cross-sectional analysis psoriasis was significantly associated with type 2 diabetes (T2D, adjusted odd’s ratio OR=2.36; 95% confidence interval CI=1.26–4.41) and myocardial infarction (MI, OR=2.26, 95% CI=1.03–4.96). In the longitudinal study, psoriasis slightly increased the risk for incident T2D (adjusted relative risk RR=1.11; 95%CI=1.08–1.14) and MI (RR=1.14; 95%CI=1.06–1.22), with highest risk increments in systemically treated psoriasis, which accounted for 11 and 17 excess cases of T2D and MI per 10,000 person-years. Except for weak signals from within the MHC, there was no evidence for genetic risk loci shared between psoriasis and cardiometabolic traits. Our findings suggest that psoriasis, in particular severe psoriasis, increases risk for T2D and MI, and that the genetic architecture of psoriasis and cardiometabolic traits is largely distinct. PMID:25599394

Autism and genetics: Clinical approach and association study with two markers of HRAS gene

Energy Technology Data Exchange (ETDEWEB)

Herault, J.; Petit, E.; Cherpi, C. [Laboratoire de Biochimie Medicale, Tours (France)] [and others

1995-08-14

Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

Bayesian LASSO, scale space and decision making in association genetics.

Science.gov (United States)

Pasanen, Leena; Holmström, Lasse; Sillanpää, Mikko J

2015-01-01

LASSO is a penalized regression method that facilitates model fitting in situations where there are as many, or even more explanatory variables than observations, and only a few variables are relevant in explaining the data. We focus on the Bayesian version of LASSO and consider four problems that need special attention: (i) controlling false positives, (ii) multiple comparisons, (iii) collinearity among explanatory variables, and (iv) the choice of the tuning parameter that controls the amount of shrinkage and the sparsity of the estimates. The particular application considered is association genetics, where LASSO regression can be used to find links between chromosome locations and phenotypic traits in a biological organism. However, the proposed techniques are relevant also in other contexts where LASSO is used for variable selection. We separate the true associations from false positives using the posterior distribution of the effects (regression coefficients) provided by Bayesian LASSO. We propose to solve the multiple comparisons problem by using simultaneous inference based on the joint posterior distribution of the effects. Bayesian LASSO also tends to distribute an effect among collinear variables, making detection of an association difficult. We propose to solve this problem by considering not only individual effects but also their functionals (i.e. sums and differences). Finally, whereas in Bayesian LASSO the tuning parameter is often regarded as a random variable, we adopt a scale space view and consider a whole range of fixed tuning parameters, instead. The effect estimates and the associated inference are considered for all tuning parameters in the selected range and the results are visualized with color maps that provide useful insights into data and the association problem considered. The methods are illustrated using two sets of artificial data and one real data set, all representing typical settings in association genetics.

[Genetic variants in miRNAs and its association with breast cancer].

Science.gov (United States)

Méndez-Gómez, Susana; Ruiz Esparza-Garrido, Ruth; Velázquez-Flores, Miguel; Dolores-Vergara, Maria; Salamanca-Gómez, Fabio; Arenas-Aranda, Diego Julio

2014-01-01

In Mexico, breast cancer represents the first cause of cancer death in females. At the molecular level, non-coding RNAs and especially microRNAs have played an important role in the origin and development of this neoplasm In the Anglo-Saxon population, diverse genetic variants in microRNA genes and in their targets are associated with the development of this disease. In the Mexican population it is not known if these or other variants exist. Identification of these or new variants in our population is fundamental in order to have a better understanding of cancer development and to help establish a better diagnostic strategy. DNA was isolated from mammary tumors, adjacent tissue and peripheral blood of Mexican females with or without cancer. From DNA, five microRNA genes and three of their targets were amplified and sequenced. Genetic variants associated with breast cancer in an Anglo- Saxon population have been previously identified in these sequences. In the samples studied we identified seven single nucleotide polymorphisms (SNPs). Two had not been previously described and were identified only in women with cancer. The new variants may be genetic predisposition factors for the development of breast cancer in our population. Further experiments are needed to determine the involvement of these variants in the development, establishment and progression of breast cancer.

ETF interim design review

International Nuclear Information System (INIS)

Steiner, D.; Rutherford, P.H.

1980-01-01

A three-day ETF Interim Design Review was conducted on July 23-25, 1980, at the Sheraton Potomac Inn in Rockville, Maryland. The intent of the review was to provide a forum for an in-depth assessment and critique of all facets of the ETF design by members of the fusion community. The review began with an opening plenary session at which an overview of the ETF design was presented by D. Steiner, manager of the ETF Design Center, complemented by a physics overview by P.H. Rutherford, chairman of the ETF/INTOR Physics Committee. This was followed by six concurrent review sessions over the next day and a half. The review closed with a plenary session at which the Design Review Board presented its findings. This document consists of the viewgraphs for the opening plenary session and an edited version of the presentations made by Steiner and Rutherford

Annex D-200 Area Interim Storage Area Final Safety Analysis Report [FSAR] [Section 1 & 2

Energy Technology Data Exchange (ETDEWEB)

CARRELL, R D

2002-07-16

The 200 Area Interim Storage Area (200 Area ISA) at the Hanford Site provides for the interim storage of non-defense reactor spent nuclear fuel (SNF) housed in aboveground dry cask storage systems. The 200 Area ISA is a relatively simple facility consisting of a boundary fence with gates, perimeter lighting, and concrete and gravel pads on which to place the dry storage casks. The fence supports safeguards and security and establishes a radiation protection buffer zone. The 200 Area ISA is nominally 200,000 ft{sup 2} and is located west of the Canister Storage Building (CSB). Interim storage at the 200 Area ISA is intended for a period of up to 40 years until the materials are shipped off-site to a disposal facility. This Final Safety Analysis Report (FSAR) does not address removal from storage or shipment from the 200 Area ISA. Three different SNF types contained in three different dry cask storage systems are to be stored at the 200 Area ISA, as follows: (1) Fast Flux Test Facility Fuel--Fifty-three interim storage casks (ISC), each holding a core component container (CCC), will be used to store the Fast Flux Test Facility (FFTF) SNF currently in the 400 Area. (2) Neutron Radiography Facility (NRF) TRIGA'--One Rad-Vault' container will store two DOT-6M3 containers and six NRF TRIGA casks currently stored in the 400 Area. (3) Commercial Light Water Reactor Fuel--Six International Standards Organization (ISO) containers, each holding a NAC-I cask4 with an inner commercial light water reactor (LWR) canister, will be used for commercial LWR SNF from the 300 Area. An aboveground dry cask storage location is necessary for the spent fuel because the current storage facilities are being shut down and deactivated. The spent fuel is being transferred to interim storage because there is no permanent repository storage currently available.

Release of radionuclides following severe accident in interim storage facility. Source term determination

International Nuclear Information System (INIS)

Morandi, S.; Mariani, M.; Giacobbo, F.; Covini, R.

2006-01-01

Among the severe accidents that can cause the release of radionuclides from an interim storage facility, with a consequent relevant radiological impact on the population, there is the impact of an aircraft on the facility. In this work, a safety assessment analysis for the case of an aircraft crash into an interim storage facility is tackled. To this aim a methodology, based upon DOE, IAEA and NUREG standard procedures and upon conservative yet realistic hypothesis, has been developed in order to evaluate the total radioactivity, source term, released to the biosphere in consequence of the impact, without recurring to the use of complicated numerical codes. The procedure consists in the identification of the accidental scenarios, in the evaluation of the consequent damage to the building structures and to the waste packages and in the determination of the total release of radionuclides through the building-atmosphere interface. The methodology here developed has been applied to the case of an aircraft crash into an interim storage facility currently under design. Results show that in case of perforation followed by a fire incident the total released activity would be greater of some orders of magnitude with respect to the case of mere perforation. (author)

Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry.

Science.gov (United States)

Taylor, Kimberly E; Wong, Quenna; Levine, David M; McHugh, Caitlin; Laurie, Cathy; Doheny, Kimberly; Lam, Mi Y; Baer, Alan N; Challacombe, Stephen; Lanfranchi, Hector; Schiødt, Morten; Srinivasan, M; Umehara, Hisanori; Vivino, Frederick B; Zhao, Yan; Shiboski, Stephen C; Daniels, Troy E; Greenspan, John S; Shiboski, Caroline H; Criswell, Lindsey A

2017-06-01

The Sjögren's International Collaborative Clinical Alliance (SICCA) is an international data registry and biorepository derived from a multisite observational study of participants in whom genotyping was performed on the Omni2.5M platform and who had undergone deep phenotyping using common protocol-directed methods. The aim of this study was to examine the genetic etiology of Sjögren's syndrome (SS) across ancestry and disease subsets. We performed genome-wide association study analyses using SICCA subjects and external controls obtained from dbGaP data sets, one using all participants (1,405 cases, 1,622 SICCA controls, and 3,125 external controls), one using European participants (585, 966, and 580, respectively), and one using Asian participants (460, 224, and 901, respectively) with ancestry adjustments via principal components analyses. We also investigated whether subphenotype distributions differ by ethnicity, and whether this contributes to the heterogeneity of genetic associations. We observed significant associations in established regions of the major histocompatibility complex (MHC), IRF5, and STAT4 (P = 3 × 10 -42 , P = 3 × 10 -14 , and P = 9 × 10 -10 , respectively), and several novel suggestive regions (those with 2 or more associations at P ancestry (P = 4 × 10 -15 and P = 4 × 10 -5 , respectively), but that subphenotype differences did not explain most of the ancestry differences in genetic associations. Genetic associations with SS differ markedly according to ancestry; however, this is not explained by differences in subphenotypes. © 2017, The Authors. Arthritis & Rheumatology published by Wiley Periodicals, Inc. on behalf of American College of Rheumatology.

Association of a body mass index genetic risk score with growth throughout childhood and adolescence.

Directory of Open Access Journals (Sweden)

Nicole M Warrington

Full Text Available While the number of established genetic variants associated with adult body mass index (BMI is growing, the relationships between these variants and growth during childhood are yet to be fully characterised. We examined the association between validated adult BMI associated single nucleotide polymorphisms (SNPs and growth trajectories across childhood. We investigated the timing of onset of the genetic effect and whether it was sex specific.Children from the ALSPAC and Raine birth cohorts were used for analysis (n = 9,328. Genotype data from 32 adult BMI associated SNPs were investigated individually and as an allelic score. Linear mixed effects models with smoothing splines were used for longitudinal modelling of the growth parameters and measures of adiposity peak and rebound were derived.The allelic score was associated with BMI growth throughout childhood, explaining 0.58% of the total variance in BMI in females and 0.44% in males. The allelic score was associated with higher BMI at the adiposity peak (females  =  0.0163 kg/m(2 per allele, males  =  0.0123 kg/m(2 per allele and earlier age (-0.0362 years per allele in males and females and higher BMI (0.0332 kg/m(2 per allele in females and 0.0364 kg/m(2 per allele in males at the adiposity rebound. No gene:sex interactions were detected for BMI growth.This study suggests that known adult genetic determinants of BMI have observable effects on growth from early childhood, and is consistent with the hypothesis that genetic determinants of adult susceptibility to obesity act from early childhood and develop over the life course.

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.

Science.gov (United States)

Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K; Milne, Roger L; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; John, Esther M; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S; Winqvist, Robert; Pilar Zamora, M; Zhao, Hui; Dunning, Alison M; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

2016-05-01

Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk.

Experience with the licensing of the interim spent fuel storage facility modification

International Nuclear Information System (INIS)

Bezak, S.; Beres, J.

1999-01-01

After political and economical changes in the end of eighties, the utility operating the nuclear power plants in the Slovak Republic (SE, a.s.) decided to change the original scheme of the back-end of the nuclear fuel cycle; instead of reprocessing in the USSR/Russian Federation spent fuel will be stored in an interim spent fuel storage facility until the time of the final decision. As the best solution, a modification of the existing interim spent fuel storage facility has been proposed. Due to lack of legal documents for this area, the Regulatory Authority of the Slovak Republic (UJD SR) performed licensing procedures of the modification on the basis of recommendations by the IAEA, the US NRC and the relevant parts of the US CFR Title 10. (author)

Safety of Long-term Interim Storage Facilities - Workshop Proceedings

International Nuclear Information System (INIS)

2014-01-01

The objective of this workshop was to discuss and review current national activities, plans and regulatory approaches for the safety of long term interim storage facilities dedicated to spent nuclear fuel (SF), high level waste (HLW) and other radioactive materials with prolonged storage regimes. It was also intended to discuss results of experiments and to identify necessary R and D to confirm safety of fuel and cask during the long-term storage. Safety authorities and their Technical Support Organisation (TSO), Fuel Cycle Facilities (FCF) operating organisations and international organisations were invited to share information on their approaches, practices and current developments. The workshop was organised in an opening session, three technical sessions, and a conclusion session. The technical sessions were focused on: - National approaches for long term interim storage facilities; - Safety requirements, regulatory framework and implementation issues; - Technical issues and operational experience, needs for R and D. Each session consisted of a number of presentations followed by a panel discussion moderated by the session Chairs. A summary of each session and subsequent discussion that ensued are provided as well as a summary of the results of the workshop with the text of the papers given and presentations made

Interim Reliability Evaluation Program procedures guide

International Nuclear Information System (INIS)

Carlson, D.D.; Gallup, D.R.; Kolaczkowski, A.M.; Kolb, G.J.; Stack, D.W.; Lofgren, E.; Horton, W.H.; Lobner, P.R.

1983-01-01

This document presents procedures for conducting analyses of a scope similar to those performed in Phase II of the Interim Reliability Evaluation Program (IREP). It documents the current state of the art in performing the plant systems analysis portion of a probabilistic risk assessment. Insights gained into managing such an analysis are discussed. Step-by-step procedures and methodological guidance constitute the major portion of the document. While not to be viewed as a cookbook, the procedures set forth the principal steps in performing an IREP analysis. Guidance for resolving the problems encountered in previous analyses is offered. Numerous examples and representative products from previous analyses clarify the discussion

Data on genetic associations of carotid atherosclerosis markers in Mexican American and European American rheumatoid arthritis subjects

Directory of Open Access Journals (Sweden)

Rector Arya

2018-04-01

Full Text Available Carotid Intima-media thickness (CIMT and plaque are well established markers of subclinical atherosclerosis and are widely used for identifying subclinical atherosclerotic disease. We performed association analyses using Metabochip array to identify genetic variants that influence variation in CIMT and plaque, measured using B-mode ultrasonography, in rheumatoid arthritis (RA patients. Data on genetic associations of common variants associated with both CIMT and plaque in RA subjects involving Mexican Americans (MA and European Americans (EA populations are presented in this article. Strong associations were observed after adjusting for covariate effects including baseline clinical characteristics and statin use. Susceptibility loci and genes and/or nearest genes associated with CIMT in MAs and EAs with RA are presented. In addition, common susceptibility loci influencing CIMT and plaque in both MAs and EAs have been presented. Polygenic Risk Score (PRS plots showing complementary evidence for the observed CIMT and plaque association signals are also shown in this article. For further interpretation and details, please see the research article titled “A Genetic Association Study of Carotid Intima-Media Thickness (CIMT and Plaque in Mexican Americans and European Americans with Rheumatoid Arthritis” which is being published in Atherosclerosis (Arya et al., 2018 [1].(Arya et al., in press Thus, common variants in several genes exhibited significant associations with CIMT and plaque in both MAs and EAs as presented in this article. These findings may help understand the genetic architecture of subclinical atherosclerosis in RA populations.

Application of NUREG/CR-5999 interim fatigue curves to selected nuclear power plant components

International Nuclear Information System (INIS)

Ware, A.G.; Morton, D.K.; Nitzel, M.E.

1995-03-01

Recent test data indicate that the effects of the light water reactor (LWR) environment could significantly reduce the fatigue resistance of materials used in the reactor coolant pressure boundary components of operating nuclear power plants. Argonne National Laboratory has developed interim fatigue curves based on test data simulating LWR conditions, and published them in NUREG/CR-5999. In order to assess the significance of these interim fatigue curves, fatigue evaluations of a sample of the components in the reactor coolant pressure boundary of LWRs were performed. The sample consists of components from facilities designed by each of the four U.S. nuclear steam supply system vendors. For each facility, six locations were studied, including two locations on the reactor pressure vessel. In addition, there are older vintage plants where components of the reactor coolant pressure boundary were designed to codes that did not require an explicit fatigue analysis of the components. In order to assess the fatigue resistance of the older vintage plants, an evaluation was also conducted on selected components of three of these plants. This report discusses the insights gained from the application of the interim fatigue curves to components of seven operating nuclear power plants

Genetic association between polymorphism of mdm2 gene and symptoms and pathological types of NSCLC

International Nuclear Information System (INIS)

Liu Xiaolan; Wang Weili; Zhang Xueying; Hao Ming; Liu Linlin; Wu Zhenfeng; Jiang Hongwei

2008-01-01

Objective: To investigate the genetic association between polymorphism of mdm2 gene and symptoms and pathological types of non-small cell lung cancer (NSCLC). Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was used to identify mdm2 genotypes. The Pearson Chi square test and Woolf statistic method were used to analyze the relative risk and 95% confidence interval (CI) in order to find the genetic association between polymorphism of mdm2 gene and symptoms and pathological types of NSCLC. Results: In the SNP rs1196337 (a G to A base change) AA genotype showed association with cough of NSCLC (P<0.05). Conclusion: The polymorphism of mdm2 gene may be associated with symptom as cough of NSCLC. (authors)

Global Distribution of Human-Associated Fecal Genetic Markers in Reference Samples from Six Continents.

Science.gov (United States)

Mayer, René E; Reischer, Georg H; Ixenmaier, Simone K; Derx, Julia; Blaschke, Alfred Paul; Ebdon, James E; Linke, Rita; Egle, Lukas; Ahmed, Warish; Blanch, Anicet R; Byamukama, Denis; Savill, Marion; Mushi, Douglas; Cristóbal, Héctor A; Edge, Thomas A; Schade, Margit A; Aslan, Asli; Brooks, Yolanda M; Sommer, Regina; Masago, Yoshifumi; Sato, Maria I; Taylor, Huw D; Rose, Joan B; Wuertz, Stefan; Shanks, Orin C; Piringer, Harald; Mach, Robert L; Savio, Domenico; Zessner, Matthias; Farnleitner, Andreas H

2018-05-01

Numerous bacterial genetic markers are available for the molecular detection of human sources of fecal pollution in environmental waters. However, widespread application is hindered by a lack of knowledge regarding geographical stability, limiting implementation to a small number of well-characterized regions. This study investigates the geographic distribution of five human-associated genetic markers (HF183/BFDrev, HF183/BacR287, BacHum-UCD, BacH, and Lachno2) in municipal wastewaters (raw and treated) from 29 urban and rural wastewater treatment plants (750-4 400 000 population equivalents) from 13 countries spanning six continents. In addition, genetic markers were tested against 280 human and nonhuman fecal samples from domesticated, agricultural and wild animal sources. Findings revealed that all genetic markers are present in consistently high concentrations in raw (median log 10 7.2-8.0 marker equivalents (ME) 100 mL -1 ) and biologically treated wastewater samples (median log 10 4.6-6.0 ME 100 mL -1 ) regardless of location and population. The false positive rates of the various markers in nonhuman fecal samples ranged from 5% to 47%. Results suggest that several genetic markers have considerable potential for measuring human-associated contamination in polluted environmental waters. This will be helpful in water quality monitoring, pollution modeling and health risk assessment (as demonstrated by QMRAcatch) to guide target-oriented water safety management across the globe.

Morphological Characterization and Assessment of Genetic Variability, Character Association, and Divergence in Soybean Mutants

Directory of Open Access Journals (Sweden)

M. A. Malek

2014-01-01

Full Text Available Genetic diversity is important for crop improvement. An experiment was conducted during 2011 to study genetic variability, character association, and genetic diversity among 27 soybean mutants and four mother genotypes. Analysis of variance revealed significant differences among the mutants and mothers for nine morphological traits. Eighteen mutants performed superiorly to their mothers in respect to seed yield and some morphological traits including yield attributes. Narrow differences between phenotypic and genotypic coefficients of variation (PCV and GCV for most of the characters revealed less environmental influence on their expression. High values of heritability and genetic advance with high GCV for branch number, plant height, pod number, and seed weight can be considered as favorable attributes for soybean improvement through phenotypic selection and high expected genetic gain can be achieved. Pod and seed number and maturity period appeared to be the first order traits for higher yield and priority should be given in selection due to their strong associations and high magnitudes of direct effects on yield. Cluster analysis grouped 31 genotypes into five groups at the coefficient value of 235. The mutants/genotypes from cluster I and cluster II could be used for hybridization program with the mutants of clusters IV and V in order to develop high yielding mutant-derived soybean varieties for further improvement.

Interim storage packagings for spent fuels : how to optimize an universal design to local needs

International Nuclear Information System (INIS)

Konirsch, O.; Kawabata, T.; Hunter, I.

2003-01-01

For the last ten years, the interim storage market for spent fuels issued from Nuclear Power Plants has significantly increased all over the world: there are presently many storage projects either in Asia, in North America and in Europe. Even if there is no international regulation on that field, there is a big concern from all the nuclear industry to try to harmonise the specification for the definition of the Interim Storage Systems. One example of this harmonisation is the common and general wish to develop systems, which allow to be easily transportable either to a final repository or to a reprocessing plant. As this destination is generally not yet known, the storage system should be able to be transported all over the world. On the other hand, the specific requirement for the storage facility and its associated equipment are subject to local and/or national regulation. COGEMA LOGISTICS Group has developed two different technologies which are compatible with this principle of harmonisation: dual purpose metallic cask represented by the TN24 family and the concrete storage system NUHOMS(R). For both technologies, basic designs can be adapted to the local needs in term of performance and of national regulation. To cover all the world, COGEMA LOGISTICS Group has its own subsidiaries, in Asia, in North America and in Europe with their own autonomous engineers teams for designing, licensing, manufacturing and delivering the transport/storage products. COGEMA LOGISTICS Group is presently the leader on the dry interim storage market. The purpose of the present paper is to show how it is possible to optimise a basic existing design of a dual purpose metallic cask for a local need of storage. Taking into account the national rules for storage and the international regulation for transport, the designer shall minimise the development cost for a completely new design and maximise the capacity of the packaging regarding the allowable limits in the Nuclear Power Plant, in

Beliefs about genetic influences on eating behaviors: Characteristics and associations with weight management confidence.

Science.gov (United States)

Persky, Susan; Bouhlal, Sofia; Goldring, Megan R; McBride, Colleen M

2017-08-01

The development of precision approaches for customized health interventions is a promising application of genomic discovery. To optimize such weight management interventions, target audiences will need to be engaged in research and implementation efforts. Investigation into approaches that engage these audiences will be required to ensure that genomic information, particularly with respect to genomic influences on endophenotypes like eating behavior, is understood and accepted, and not associated with unintended adverse outcomes. We took steps to characterize healthy individuals' beliefs about genetic influences on eating behavior. Data were collected via online survey from 261 participants selected at random from a database. Respondents infrequently spontaneously identified eating behavior-related factors as running in families. However, those who perceived themselves as overweight and perceived a family history of overweight were more likely to attribute eating behavior to genetics on closed-ended assessments, β=0.252, p=0.039. Genetic attributions for eating behaviors were associated with lower confidence in ability to control eating and weight, β=-0.119, p=0.035. These exploratory findings shed light on beliefs about genetic influences on eating, a behavioral trait (rather than a disease). This investigation can inform future health intervention efforts. Published by Elsevier Ltd.

Interim Restorative Approach for the Management of Congenitally Missing Permanent Mandibular Incisors: Presentation of Three Cases

Directory of Open Access Journals (Sweden)

Prashanth Prakash

2011-01-01

Full Text Available Congenital missing of mandibular permanent incisors with retained primary incisors may jeopardize the esthetic appearance and psychological development of children, especially during the years of transition into adolescence. The retained primary teeth are necessary for the maintenance and normal development of alveolar bone, which in turn is essential for future definitive rehabilitation. In such situations, an interim restoration may be provided before any definitive treatment is given to comfort the young patient during this transition period. Interim restorations may include resin-modified additions to the existing teeth as well as more sophisticated restorations such as resin-retained bridge and removable partial dentures. However, this restoration differs for different clinical situations based on various factors such as age and patient compliance, and also consideration has to be given for the growth changes of the child. The aim of this present paper is to discuss the esthetic management of three cases with bilateral agenesis of permanent mandibular incisors and retained primary incisors with composite interim restoration.

A genetic analysis of epistaxis as associated with EIPH in the ...

African Journals Online (AJOL)

Pedigree and race run data from Thoroughbreds racing in Southern Africa, covering the period 1986-2002 (63 146 horses in pedigree data-set and 778 532 race runs), were analysed in order to study genetic and environmental factors affecting the incidence of epistaxis as associated with \\"exercise-induced pulmonary ...

Genetic relatedness and spatial associations of dusky-footed woodrats (Neotoma fuscipes)

Science.gov (United States)

Robin J. Innes; Mary Brooke McEachern; Dirk H. Van Vuren; John M. Eadie; Douglas A. Kelt; Michael L. Johnson

2012-01-01

We studied the association between space sharing and kinship in a solitary rodent, the dusky-footed woodrat (Neotoma fuscipes). Genetic relatedness was inversely correlated with geographic distance for female woodrats but not for males, a pattern consistent with female philopatry and male dispersal. However, some female neighbors were unrelated, suggesting the...

The Association between Infants' Attention Control and Social Inhibition Is Moderated by Genetic and Environmental Risk for Anxiety

Science.gov (United States)

Brooker, Rebecca J.; Neiderhiser, Jenae M.; Kiel, Elizabeth J.; Leve, Leslie D.; Shaw, Daniel S.; Reiss, David

2011-01-01

Infant social inhibition is associated with increased risk for anxiety later in life. Although both genetic and environmental factors are associated with anxiety, little empirical work has addressed how developing regulatory abilities work with genetic and environmental risk to exacerbate or mitigate problem behaviors. The current study was aimed…

Simple Algorithms to Calculate Asymptotic Null Distributions of Robust Tests in Case-Control Genetic Association Studies in R

Directory of Open Access Journals (Sweden)

Wing Kam Fung

2010-02-01

Full Text Available The case-control study is an important design for testing association between genetic markers and a disease. The Cochran-Armitage trend test (CATT is one of the most commonly used statistics for the analysis of case-control genetic association studies. The asymptotically optimal CATT can be used when the underlying genetic model (mode of inheritance is known. However, for most complex diseases, the underlying genetic models are unknown. Thus, tests robust to genetic model misspecification are preferable to the model-dependant CATT. Two robust tests, MAX3 and the genetic model selection (GMS, were recently proposed. Their asymptotic null distributions are often obtained by Monte-Carlo simulations, because they either have not been fully studied or involve multiple integrations. In this article, we study how components of each robust statistic are correlated, and find a linear dependence among the components. Using this new finding, we propose simple algorithms to calculate asymptotic null distributions for MAX3 and GMS, which greatly reduce the computing intensity. Furthermore, we have developed the R package Rassoc implementing the proposed algorithms to calculate the empirical and asymptotic p values for MAX3 and GMS as well as other commonly used tests in case-control association studies. For illustration, Rassoc is applied to the analysis of case-control data of 17 most significant SNPs reported in four genome-wide association studies.

Genetics of animal temperament: aggressive behaviour at mixing is genetically associated with the response to handling in pigs.

Science.gov (United States)

D'Eath, R B; Roehe, R; Turner, S P; Ison, S H; Farish, M; Jack, M C; Lawrence, A B

2009-11-01

Aggression when pigs are mixed into new social groups has negative impacts on welfare and production. Aggressive behaviour is moderately heritable and could be reduced by genetic selection. The possible wider impacts of selection for reduced aggressiveness on handling traits and activity in the home pen were investigated using 1663 male and female pedigree pigs (898 purebred Yorkshire and 765 Yorkshire × Landrace). Aggressive behaviour was observed over 24 h after pigs were mixed at 10 weeks of age into groups balanced for unfamiliarity and weight. Aggression was highly heritable (duration of involvement in reciprocal fighting h2 = 0.47 ± 0.03, and duration of delivering one-sided aggression h2 = 0.34 ± 0.03). Three weeks after mixing, home pen inactivity (indicated by the frequency of lying) was observed over 24 h. Inactivity was weakly heritable (h2 = 0.05 ± 0.01) but showed no significant genetic association with aggression. Pigs' behaviour during handling by humans was assessed on entry to, whilst inside and on exit from a weigh crate at both mixing and end of test at 22 weeks. Pigs were generally easy to handle, moving easily into and out of the crate. Scores indicating 'very difficult to move' were rare. Handling scores at weighing were weakly heritable (h2 = 0.03 to 0.17), and moderately correlated across the two weighings (rg = 0.28 to 0.76). Aggressive behaviour at mixing was genetically associated with handling at the end of test weighing: pigs that fought and delivered one-sided aggression had handling scores indicating more active behaviour at weighing (e.g. moving quickly into the crate v. fighting rg = 0.41 ± 0.05 and v. bullying rg = 0.60 ± 0.04). Also, there was a genetic association between receiving one-side aggression at mixing and producing high-pitched vocalisations in the weigh crate (rg = 0.78 ± 0.08). Correlated behavioural responses occurring across different challenging situations (e.g. social mixing and human handling) have been

Interim Sanitary Landfill Groundwater Monitoring Report. 1997 Annual Report

Energy Technology Data Exchange (ETDEWEB)

NONE

1998-01-01

Eight wells of the LFW series monitor groundwater quality in the Steed Pond Aquifer (Water Table) beneath the Interim Sanitary Landfill at the Savannah River Site (SRS). These wells are sampled semiannually to comply with the South Carolina Department of Health and Environmental Control Modified Municipal Solid Waste Permit 025500-1120 (formerly dWP-087A) and as part of the SRS Groundwater Monitoring Program.

Hazardous waste management programs; Florida: authorization for interim authorization phase I--Environmental Protection Agency. Notice of final determination.

Science.gov (United States)

1982-05-07

The State of Florida has applied for interim Authorization Phase I. EPA has reviewed Florida's application for Phase I and has determined that Florida's hazardous waste program is substantially equivalent to the Federal program covered by Phase I. The State of Florida is, hereby, granted Interim Authorization for Phase I to operate the State 's hazardous waste program, in lieu of the Federal program.

Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered?

DEFF Research Database (Denmark)

Fernandez, Matt; Ordoñana, Juan R; Hartvigsen, Jan

2016-01-01

OBJECTIVE: To investigate the chronic low back pain and coronary heart disease relationship, after adjusting for relevant confounders, including genetics. METHODS: In a cross-sectional design, 2148 twins were recruited from the Murcia Twin Registry, Spain. The exposure was chronic LBP...... twin pairs discordant for chronic LBP utilised, separated for zygosity-dizygotic (DZ) and monozygotic (MZ) pairs, which adjusted for shared familial factors, including genetics. RESULTS: Chronic LBP pain is associated with lifetime myocardial infarction [odds ratio (OR) = 2.69, 95% confidence interval...... of the association remained or increased in the co-twin control analyses, none reached statistical significance. CONCLUSION: Chronic LBP is associated with a higher prevalence of myocardial infarction and coronary heart disease. It is possible that this association remains even when controlling for genetics...

Students' interim literacies as a dynamic resource for teaching and ...

African Journals Online (AJOL)

This article explores the notion of 'interim literacies'by drawing on data from a research project which used linguistic and intertextual analysis of first year student writing in economics to investigate the intersection of academic discourse and student voice. This research has provided a rich set of data to illustrate the ways in ...