Considering Interactions among Multiple Criteria for the Server Selection

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Vesna Čančer

2010-06-01

Full Text Available Decision-making about server selection is one of the multi-criteria decision-making (MCDM processes where interactions among criteria should be considered. The paper introduces and develops some solutions for considering interactions among criteria in the MCDM problems. In the frame procedure for MCDM by using the group of methods, based on assigning weights, special attention is given to the synthesis of the local alternatives’ values into the aggregate values where the mutual preferential independence between two criteria is not assumed. Firstly, we delineate how to complete the additive model into the multiplicative one with synergic and redundancy elements in the case that criteria are structured in one level and in two levels. Furthermore, we adapted the concept of the fuzzy Choquet integral to the multi-attribute value theory. Studying and comparing the results of the example case of the server selection obtained by both aggregation approaches, the paper highlights the advantages of the first one since it does not require from decision makers to determine the weights of all possible combinations of the criteria and it enables the further use of the most preferred MCDM methods.

To Make Good Decision: A Group DSS for Multiple Criteria Alternative Rank and Selection

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Chen-Shu Wang

2015-01-01

Full Text Available Decision making is a recursive process and usually involves multiple decision criteria. However, such multiple criteria decision making may have a problem in which partial decision criteria may conflict with each other. An information technology, such as the decision support system (DSS and group DSS (GDSS, emerges to assist decision maker for decision-making process. Both the DSS and GDSS should integrate with a symmetrical approach to assist decision maker to take all decision criteria into consideration simultaneously. This study proposes a GDSS architecture named hybrid decision-making support model (HDMSM and integrated four decision approaches (Delphi, DEMATEL, ANP, and MDS to help decision maker to rank and select appropriate alternatives. The HDMSM consists of five steps, namely, criteria identification, criteria correlation calculation, criteria evaluation, critical criteria selection, and alternative rank and comparison. Finally, to validate the proposed feasibility of the proposed model, this study also conducts a case study to find out the important indexes of corporate social responsibility (CSR from multiple perspectives. As the case study demonstrates the proposed HDMSM enables a group of decision makers to implement the MCDM effectively and help them to analyze the relation and degree of mutual influence among different evaluation factors.

Hesitant fuzzy methods for multiple criteria decision analysis

CERN Document Server

Zhang, Xiaolu

2017-01-01

The book offers a comprehensive introduction to methods for solving multiple criteria decision making and group decision making problems with hesitant fuzzy information. It reports on the authors’ latest research, as well as on others’ research, providing readers with a complete set of decision making tools, such as hesitant fuzzy TOPSIS, hesitant fuzzy TODIM, hesitant fuzzy LINMAP, hesitant fuzzy QUALIFEX, and the deviation modeling approach with heterogeneous fuzzy information. The main focus is on decision making problems in which the criteria values and/or the weights of criteria are not expressed in crisp numbers but are more suitable to be denoted as hesitant fuzzy elements. The largest part of the book is devoted to new methods recently developed by the authors to solve decision making problems in situations where the available information is vague or hesitant. These methods are presented in detail, together with their application to different type of decision-making problems. All in all, the book ...

Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

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Nicolás Pilar

2007-09-01

Full Text Available Abstract The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.

A Hybrid Multiple Criteria Decision Making Model for Supplier Selection

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Chung-Min Wu

2013-01-01

Full Text Available The sustainable supplier selection would be the vital part in the management of a sustainable supply chain. In this study, a hybrid multiple criteria decision making (MCDM model is applied to select optimal supplier. The fuzzy Delphi method, which can lead to better criteria selection, is used to modify criteria. Considering the interdependence among the selection criteria, analytic network process (ANP is then used to obtain their weights. To avoid calculation and additional pairwise comparisons of ANP, a technique for order preference by similarity to ideal solution (TOPSIS is used to rank the alternatives. The use of a combination of the fuzzy Delphi method, ANP, and TOPSIS, proposing an MCDM model for supplier selection, and applying these to a real case are the unique features of this study.

Formal MRI criteria for the diagnosis of multiple sclerosis

International Nuclear Information System (INIS)

Harting, I.; Haehnel, S.; Meyding-Lamade, U.

2004-01-01

Multiple scloris (MS) is the most common demyelinating inflammatory disease of the central nervous system, presenting with multifocal, disseminated white matter lesions called plaques. Magnetic resonance imaging (MRI) is very sensitive in detecting white matter abnormalities. By demonstrating the spatial and temporal dissemination in patients presenting with isolated clinical findings suggestive of MS, MRI contributes to estimating the likelihood of the disease. Since MRI is highly sensitive but not specific, it is important to apply formal MRI criteria. This article describes the characteristic MRI changes of MS and the so-called McDonald criteria for an MRI-supported diagnosis of MS. (orig.) [de

Robust Inventory System Optimization Based on Simulation and Multiple Criteria Decision Making

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Ahmad Mortazavi

2014-01-01

Full Text Available Inventory management in retailers is difficult and complex decision making process which is related to the conflict criteria, also existence of cyclic changes and trend in demand is inevitable in many industries. In this paper, simulation modeling is considered as efficient tool for modeling of retailer multiproduct inventory system. For simulation model optimization, a novel multicriteria and robust surrogate model is designed based on multiple attribute decision making (MADM method, design of experiments (DOE, and principal component analysis (PCA. This approach as a main contribution of this paper, provides a framework for robust multiple criteria decision making under uncertainty.

Purchasing a Used Car Using Multiple Criteria Decision Making

Science.gov (United States)

Edwards, Thomas G.; Chelst, Kenneth R.

2007-01-01

When studying mathematics, students often ask the age-old question, "When will I ever use this in my future?" The activities described in this article demonstrate for students a process that brings the power of mathematical reasoning to bear on a difficult decision involving multiple criteria that is sure to resonate with the interests of many of…

Genetic Algorithms for Multiple-Choice Problems

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Aickelin, Uwe

2010-04-01

This thesis investigates the use of problem-specific knowledge to enhance a genetic algorithm approach to multiple-choice optimisation problems.It shows that such information can significantly enhance performance, but that the choice of information and the way it is included are important factors for success.Two multiple-choice problems are considered.The first is constructing a feasible nurse roster that considers as many requests as possible.In the second problem, shops are allocated to locations in a mall subject to constraints and maximising the overall income.Genetic algorithms are chosen for their well-known robustness and ability to solve large and complex discrete optimisation problems.However, a survey of the literature reveals room for further research into generic ways to include constraints into a genetic algorithm framework.Hence, the main theme of this work is to balance feasibility and cost of solutions.In particular, co-operative co-evolution with hierarchical sub-populations, problem structure exploiting repair schemes and indirect genetic algorithms with self-adjusting decoder functions are identified as promising approaches.The research starts by applying standard genetic algorithms to the problems and explaining the failure of such approaches due to epistasis.To overcome this, problem-specific information is added in a variety of ways, some of which are designed to increase the number of feasible solutions found whilst others are intended to improve the quality of such solutions.As well as a theoretical discussion as to the underlying reasons for using each operator,extensive computational experiments are carried out on a variety of data.These show that the indirect approach relies less on problem structure and hence is easier to implement and superior in solution quality.

Comparison of multiple-criteria decision-making methods - results of simulation study

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Michał Adamczak

2016-12-01

Full Text Available Background: Today, both researchers and practitioners have many methods for supporting the decision-making process. Due to the conditions in which supply chains function, the most interesting are multi-criteria methods. The use of sophisticated methods for supporting decisions requires the parameterization and execution of calculations that are often complex. So is it efficient to use sophisticated methods? Methods: The authors of the publication compared two popular multi-criteria decision-making methods: the  Weighted Sum Model (WSM and the Analytic Hierarchy Process (AHP. A simulation study reflects these two decision-making methods. Input data for this study was a set of criteria weights and the value of each in terms of each criterion. Results: The iGrafx Process for Six Sigma simulation software recreated how both multiple-criteria decision-making methods (WSM and AHP function. The result of the simulation was a numerical value defining the preference of each of the alternatives according to the WSM and AHP methods. The alternative producing a result of higher numerical value  was considered preferred, according to the selected method. In the analysis of the results, the relationship between the values of the parameters and the difference in the results presented by both methods was investigated. Statistical methods, including hypothesis testing, were used for this purpose. Conclusions: The simulation study findings prove that the results obtained with the use of two multiple-criteria decision-making methods are very similar. Differences occurred more frequently in lower-value parameters from the "value of each alternative" group and higher-value parameters from the "weight of criteria" group.

Clinical diagnostic criteria of multiple sclerosis: the role of magnetic resonance imaging

International Nuclear Information System (INIS)

Belair, M.; Girard, M.

2004-01-01

The objective of this article is to summarize the diagnostic criteria recommended by the International Panel on the Diagnosis of Multiple Sclerosis in 2001. The recommendations of another working group, the Consortium of Multiple Sclerosis Centers Consensus Meeting, which met in Vancouver in 2001, concerning the diagnosis and follow-up of patients with multiple sclerosis are also presented in an effort to standardize the protocols for magnetic resonance imaging of these patients. (author)

Use of the 2010 McDonald criteria can facilitate early diagnosis of pediatric multiple sclerosis in a predominantly black cohort.

Science.gov (United States)

Williams, Mitchel T; Tapos, Daniela O; Juhász, Csaba

2014-12-01

Pediatric-onset multiple sclerosis represents around 3-5% of all patients with multiple sclerosis. Both the 2005 and 2010 McDonald criteria for multiple sclerosis have been suggested for the possible use in pediatric-onset multiple sclerosis. Modifications incorporated into the 2010 criteria enabled the fulfillment of dissemination in time to be met with the initial magnetic resonance imaging. The present study was designed to compare the diagnostic sensitivity of these criteria at initial presentation, the time to fulfilling them, and secondary effects of ethnicity in pediatric-onset multiple sclerosis. Twenty-five children with clinically definite multiple sclerosis (mean age, 14.6 ± 3.1 years; 15 girls) from a single center between 2005 and 2012 were analyzed using both the 2005 and 2010 McDonald criteria based on initial clinical presentation and neuroimaging findings comparing diagnostic sensitivity, time interval to meet diagnosis, and ethnicity. Initial multiple sclerosis diagnosis rates applying the 2005 McDonald criteria were 32% compared with 92% for the 2010 criteria (P = 0.0003). The mean time after initial signs until the 2005 and 2010 McDonald criteria for multiple sclerosis were met was 5.0 vs 0.7 months, respectively (P = 0.001). Time to diagnosis using the 2010 criteria was shorter in black children than the European white (P = 0.005). The 2010 McDonald criteria are an appropriate tool for the timely diagnosis of pediatric multiple sclerosis, especially in black children, potentially allowing an earlier initiation of disease-modifying therapy. Copyright © 2014 Elsevier Inc. All rights reserved.

Developing metapopulation connectivity criteria from genetic and habitat data to recover the endangered Mexican wolf.

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Carroll, Carlos; Fredrickson, Richard J; Lacy, Robert C

2014-02-01

Restoring connectivity between fragmented populations is an important tool for alleviating genetic threats to endangered species. Yet recovery plans typically lack quantitative criteria for ensuring such population connectivity. We demonstrate how models that integrate habitat, genetic, and demographic data can be used to develop connectivity criteria for the endangered Mexican wolf (Canis lupus baileyi), which is currently being restored to the wild from a captive population descended from 7 founders. We used population viability analysis that incorporated pedigree data to evaluate the relation between connectivity and persistence for a restored Mexican wolf metapopulation of 3 populations of equal size. Decreasing dispersal rates greatly increased extinction risk for small populations (0.5 genetically effective migrants per generation may be achievable via natural dispersal under current landscape conditions. When sufficient data are available, these methods allow planners to move beyond general aspirational connectivity goals or rules of thumb to develop objective and measurable connectivity criteria that more effectively support species recovery. The shift from simple connectivity rules of thumb to species-specific analyses parallels the previous shift from general minimum-viable-population thresholds to detailed viability modeling in endangered species recovery planning. © 2013 Society for Conservation Biology.

MULTIPLE CRITERIA DECISION MAKING IN STRATEGIC PLANNING OF TABLE EGG PRODUCTION

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Ana Crnčan

2016-06-01

Full Text Available The main research objective was to analyze and evaluate different systems of table egg production by using the multiple criteria analysis, the method of Analytic Hierarchy Process (AHP in decision making within strategic planning of production. The survey involved 79 producers of table eggs registered in the Records on laying hens’ farms in the Republic of Croatia. In the first stage, the research defined the criteria and sub-criteria for system evaluation which were compared in pairs in order to determine the weight or importance for each of them. Alternatives were evaluation based on definition of priorities of examinees and the extent to which they meet each of the defined criteria and sub-criteria. Intensity of examinees’ preferences were entered into the Expert Choice software in order to evaluate ranking results of egg production systems. Defined model consisted of a quantitative criterion of economic indicators, and the other two referred to qualitative criteria, market indicators and technical-technological factors. Each criterion had its corresponding sub-criteria that were evenly distributed in numerical order. Based on individual assessments of the examinees, overall cumulative evaluation was obtained for the table egg production systems. Accordingly, the most acceptable alternative to egg production is the indoor keeping system (priority 0.301. It is followed by the free-range system of keeping laying hens (priority 0.253. The third-ranked alternative is egg production by hens kept in conventional cages (priority 0.226, while the fourth-ranked least acceptable alternative, as of the total evaluation, is the ecological system of egg production (priority 0.220. Taking into account the obtained results of multiple criteria evaluation as well as EU and world trends in changing consumers’ habits including food safety and quality as well as customers’ preferences towards local market and local products, it is recommended that eggs

A heuristic approach using multiple criteria for environmentally benign 3PLs selection

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Kongar, Elif

2005-11-01

Maintaining competitiveness in an environment where price and quality differences between competing products are disappearing depends on the company's ability to reduce costs and supply time. Timely responses to rapidly changing market conditions require an efficient Supply Chain Management (SCM). Outsourcing logistics to third-party logistics service providers (3PLs) is one commonly used way of increasing the efficiency of logistics operations, while creating a more "core competency focused" business environment. However, this alone may not be sufficient. Due to recent environmental regulations and growing public awareness regarding environmental issues, 3PLs need to be not only efficient but also environmentally benign to maintain companies' competitiveness. Even though an efficient and environmentally benign combination of 3PLs can theoretically be obtained using exhaustive search algorithms, heuristics approaches to the selection process may be superior in terms of the computational complexity. In this paper, a hybrid approach that combines a multiple criteria Genetic Algorithm (GA) with Linear Physical Weighting Algorithm (LPPW) to be used in efficient and environmentally benign 3PLs is proposed. A numerical example is also provided to illustrate the method and the analyses.

MULTIPLE CRITERIA DECISION MAKING APPROACH FOR INDUSTRIAL ENGINEER SELECTION USING FUZZY AHP-FUZZY TOPSIS

OpenAIRE

Deliktaş, Derya; ÜSTÜN, Özden

2018-01-01

In this study, a fuzzy multiple criteria decision-making approach is proposed to select an industrial engineer among ten candidates in a manufacturing environment. The industrial engineer selection problem is a special case of the personal selection problem. This problem, which has hierarchical structure of criteria and many decision makers, contains many criteria. The evaluation process of decision makers also includes ambiguous parameters. The fuzzy AHP is used to determin...

Multiple stakeholders in multi-criteria decision-making in the context of Municipal Solid Waste Management: A review.

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Soltani, Atousa; Hewage, Kasun; Reza, Bahareh; Sadiq, Rehan

2015-01-01

Municipal Solid Waste Management (MSWM) is a complicated process that involves multiple environmental and socio-economic criteria. Decision-makers look for decision support frameworks that can guide in defining alternatives, relevant criteria and their weights, and finding a suitable solution. In addition, decision-making in MSWM problems such as finding proper waste treatment locations or strategies often requires multiple stakeholders such as government, municipalities, industries, experts, and/or general public to get involved. Multi-criteria Decision Analysis (MCDA) is the most popular framework employed in previous studies on MSWM; MCDA methods help multiple stakeholders evaluate the often conflicting criteria, communicate their different preferences, and rank or prioritize MSWM strategies to finally agree on some elements of these strategies and make an applicable decision. This paper reviews and brings together research on the application of MCDA for solving MSWM problems with more focus on the studies that have considered multiple stakeholders and offers solutions for such problems. Results of this study show that AHP is the most common approach in consideration of multiple stakeholders and experts and governments/municipalities are the most common participants in these studies. Copyright © 2014 Elsevier Ltd. All rights reserved.

Multiple stakeholders in multi-criteria decision-making in the context of Municipal Solid Waste Management: A review

International Nuclear Information System (INIS)

Soltani, Atousa; Hewage, Kasun; Reza, Bahareh; Sadiq, Rehan

2015-01-01

Highlights: • We review Municipal Solid Waste Management studies with focus on multiple stakeholders. • We focus on studies with multi-criteria decision analysis methods and discover their trends. • Most studies do not offer solutions for situations where stakeholders compete for more benefits or have unequal voting powers. • Governments and experts are the most participated stakeholders and AHP is the most dominant method. - Abstract: Municipal Solid Waste Management (MSWM) is a complicated process that involves multiple environmental and socio-economic criteria. Decision-makers look for decision support frameworks that can guide in defining alternatives, relevant criteria and their weights, and finding a suitable solution. In addition, decision-making in MSWM problems such as finding proper waste treatment locations or strategies often requires multiple stakeholders such as government, municipalities, industries, experts, and/or general public to get involved. Multi-criteria Decision Analysis (MCDA) is the most popular framework employed in previous studies on MSWM; MCDA methods help multiple stakeholders evaluate the often conflicting criteria, communicate their different preferences, and rank or prioritize MSWM strategies to finally agree on some elements of these strategies and make an applicable decision. This paper reviews and brings together research on the application of MCDA for solving MSWM problems with more focus on the studies that have considered multiple stakeholders and offers solutions for such problems. Results of this study show that AHP is the most common approach in consideration of multiple stakeholders and experts and governments/municipalities are the most common participants in these studies

Multiple stakeholders in multi-criteria decision-making in the context of Municipal Solid Waste Management: A review

Energy Technology Data Exchange (ETDEWEB)

Soltani, Atousa; Hewage, Kasun; Reza, Bahareh; Sadiq, Rehan, E-mail: Rehan.sadiq@ubc.ca

2015-01-15

Highlights: • We review Municipal Solid Waste Management studies with focus on multiple stakeholders. • We focus on studies with multi-criteria decision analysis methods and discover their trends. • Most studies do not offer solutions for situations where stakeholders compete for more benefits or have unequal voting powers. • Governments and experts are the most participated stakeholders and AHP is the most dominant method. - Abstract: Municipal Solid Waste Management (MSWM) is a complicated process that involves multiple environmental and socio-economic criteria. Decision-makers look for decision support frameworks that can guide in defining alternatives, relevant criteria and their weights, and finding a suitable solution. In addition, decision-making in MSWM problems such as finding proper waste treatment locations or strategies often requires multiple stakeholders such as government, municipalities, industries, experts, and/or general public to get involved. Multi-criteria Decision Analysis (MCDA) is the most popular framework employed in previous studies on MSWM; MCDA methods help multiple stakeholders evaluate the often conflicting criteria, communicate their different preferences, and rank or prioritize MSWM strategies to finally agree on some elements of these strategies and make an applicable decision. This paper reviews and brings together research on the application of MCDA for solving MSWM problems with more focus on the studies that have considered multiple stakeholders and offers solutions for such problems. Results of this study show that AHP is the most common approach in consideration of multiple stakeholders and experts and governments/municipalities are the most common participants in these studies.

Application of the McDonald MRI criteria in multiple sclerosis.

Science.gov (United States)

Chan, Ling Ling; Sitoh, Yih Yian; Chong, June; See, Siew Ju; Umapathi, Thirugnanam N; Lim, Shih Hui; Ong, Benjamin

2007-08-01

The aim of this study was to assess the sensitivity of McDonald's magnetic resonance imaging (MRI) criteria for the diagnosis of multiple sclerosis (MS) in a group of Asian patients diagnosed with clinically definite MS, based on lesion characterisation on MRI scans. Forty-nine patients from 3 major neurological institutions were classified as having Asian- or Western-type MS based on clinical assessment. Each MRI scan was reviewed by 2 neuroradiologists for the presence and characteristics of brain and spinal lesions. The McDonald's MRI criteria were then applied and its sensitivity evaluated. Nine patients were excluded, leaving 34 females and 6 males who were dominantly Chinese (90%), with a mean age of 36.2 years. The MRI brain and spinal findings were detailed and tabulated. Statistically significant differences (P McDonald's MRI criteria were found between our Asian- and Western-type MS patients. The diagnostic yield of McDonald's MRI criteria increased by 20% when we substituted a cord for a brain lesion, and applied the substitution for enhancing cord lesions as well. The diagnosis is more likely to be made when using McDonald MRI criteria based on brain findings, in a patient who presents clinically with Western-type MS. The provision for substitution of "one brain for a spinal lesion" is helpful in Asian-type MS, where there is preponderance of spinal lesion load. Our findings suggest that minor modifications in the interpretation of McDonald's MRI criteria have significant impact on the diagnosis in patients clinically presenting as Asian-type MS, with potential bearing on their subsequent management.

Methodology for Selecting Best Management Practices Integrating Multiple Stakeholders and Criteria. Part 1: Methodology

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Mauricio Carvallo Aceves

2016-02-01

Full Text Available The implementation of stormwater Best Management Practices (BMPs could help re-establish the natural hydrological cycle of watersheds after urbanization, with each BMP presenting a different performance across a range of criteria (flood prevention, pollutant removal, etc.. Additionally, conflicting views from the relevant stakeholders may arise, resulting in a complex selection process. This paper proposes a methodology for BMP selection based on the application of multi-criteria decision aid (MCDA methods, integrating multiple stakeholder priorities and BMP combinations. First, in the problem definition, the MCDA methods, relevant criteria and design guidelines are selected. Next, information from the preliminary analysis of the watershed is used to obtain a list of relevant BMPs. The third step comprises the watershed modeling and analysis of the BMP alternatives to obtain performance values across purely objective criteria. Afterwards, a stakeholder analysis based on survey applications is carried out to obtain social performance values and criteria priorities. Then, the MCDA methods are applied to obtain the final BMP rankings. The last step considers the sensitivity analysis and rank comparisons in order to draw the final conclusions and recommendations. Future improvements to the methodology could explore inclusion of multiple objective analysis, and alternative means for obtaining social performance values.

Multiple Criteria and Multiple Periods Performance Analysis: The Comparison of North African Railways

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Sabri, Karim; Colson, Gérard E.; Mbangala, Augustin M.

2008-10-01

Multi-period differences of technical and financial performances are analysed by comparing five North African railways over the period (1990-2004). A first approach is based on the Malmquist DEA TFP index for measuring the total factors productivity change, decomposed into technical efficiency change and technological changes. A multiple criteria analysis is also performed using the PROMETHEE II method and the software ARGOS. These methods provide complementary detailed information, especially by discriminating the technological and management progresses by Malmquist and the two dimensions of performance by Promethee: that are the service to the community and the enterprises performances, often in conflict.

Novel applications of multitask learning and multiple output regression to multiple genetic trait prediction.

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He, Dan; Kuhn, David; Parida, Laxmi

2016-06-15

Given a set of biallelic molecular markers, such as SNPs, with genotype values encoded numerically on a collection of plant, animal or human samples, the goal of genetic trait prediction is to predict the quantitative trait values by simultaneously modeling all marker effects. Genetic trait prediction is usually represented as linear regression models. In many cases, for the same set of samples and markers, multiple traits are observed. Some of these traits might be correlated with each other. Therefore, modeling all the multiple traits together may improve the prediction accuracy. In this work, we view the multitrait prediction problem from a machine learning angle: as either a multitask learning problem or a multiple output regression problem, depending on whether different traits share the same genotype matrix or not. We then adapted multitask learning algorithms and multiple output regression algorithms to solve the multitrait prediction problem. We proposed a few strategies to improve the least square error of the prediction from these algorithms. Our experiments show that modeling multiple traits together could improve the prediction accuracy for correlated traits. The programs we used are either public or directly from the referred authors, such as MALSAR (http://www.public.asu.edu/~jye02/Software/MALSAR/) package. The Avocado data set has not been published yet and is available upon request. dhe@us.ibm.com. © The Author 2016. Published by Oxford University Press.

A proposed modification to the McDonald 2010 criteria for the diagnosis of primary progressive multiple sclerosis.

LENUS (Irish Health Repository)

Kelly, S B

2013-07-01

The diagnostic criteria for primary-progressive multiple sclerosis (PPMS) have undergone revision over the last 20 years. Cerebrospinal fluid oligoclonal bands (CSFOBs) have received less emphasis in recent revisions of the McDonald criteria. The aim of this study was to examine the sensitivity of the diagnostic criteria for PPMS with particular reference to spinal cord criteria and examine the utility of CSFOBs in a cohort of PPMS patients.

12th International Conference on Multiple Criteria Decision Making

CERN Document Server

Gal, Tomas

1997-01-01

The organizers of the 12th International Conference on Multiple Cri­ teria Decision Making (MCDM) held June 19-23, 1995 in Hagen received the second time the opportunity to prepare an international conference on MCDM in Germany; the first opportunity has been the 3rd International Conference on MCDM in Konigswinter, 1979. Quite a time ellapsed since then and therefore it might be interesting to compare some indicators of the development of the International Society on MCDM, which has been founded in Konigswinter. Stanley Zionts has been elected first president and all 44 participants of that Conference became founding members. Today our Society has over 1200 members and its own Journal (MCDM World Scan). In Hagen, 1996, we had 152 participants from 34 countries. It is interesting to mention that also other Groups established their organi­ zation, like the European Working Group on Multiple Criteria Decision Aid, the German Working Group on Decision Theory and Applications, the Multi­ Objective Programming ...

Application of Multiple Criteria Decision Making to Renovation of Multi-Residential Historic Buildings

DEFF Research Database (Denmark)

Galiotto, Nicolas; Flourentzou, Flourentzos; Thalmann, Philippe

2013-01-01

project, which fulfills simultaneously and optimally all three pillars of sustainability. Multiple criteria decision making methodologies can help to improve the decision environment and handle the whole space of constraints. It therefore leads the stakeholders to find consensual solutions. In this paper...

Applicability of McDonald 2010 and Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) 2016 Magnetic Resonance Imaging Criteria for the Diagnosis of Multiple Sclerosis in Sri Lanka.

Science.gov (United States)

Gamage, Sujani Madhurika Kodagoda; Wijeweera, Indunil; Wijesinghe, Priyangi; Adikari, Sanjaya Bandara; Fink, Katharina; Sominanda, Herath Mudiyanselage Ajith

2018-05-31

The magnetic resonance imaging in multiple sclerosis (MAGNIMS) group recently proposed guidelines to replace the existing dissemination-in-space criteria in McDonald 2010 magnetic resonance imaging (MRI) criteria for diagnosing multiple sclerosis. There has been insufficient research regarding their applicability in Asians. Objective of this study was to determine the sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of McDonald 2010 and MAGNIMS 2016 MRI criteria with the aim of verifying their applicability in Sri Lankan patients. Patients with clinically isolated syndrome diagnosed by consultant neurologists were recruited from five major neurology centers. Baseline and follow-up MRI scans were performed within 3 months from the initial presentation and at one year after baseline MRI, respectively. McDonald 2010 and MAGNIMS 2016 MRI criteria were applied to all MRI scans. Patients were followed-up for 2 years to assess the conversion to clinically definite multiple sclerosis (CDMS). The sensitivity, specificity, accuracy, PPV, and NPV for predicting the conversion to CDMS were calculated. Forty-two of 66 patients converted to CDMS. Thirty-seven fulfilled the McDonald 2010 MRI criteria, and 33 converted to CDMS. MAGNIMS 2016 MRI criteria were fulfilled by 29, with 28 converting to CDMS. The sensitivity, specificity, accuracy, PPV, and NPV were 78%, 83%, 64%, 89%, and 69%, respectively, for the McDonald 2010 criteria, and 67%, 96%, 77%, 96%, and 62% for the MAGNIMS 2016 MRI criteria. MAGNIMS 2016 MRI criteria were superior to McDonald 2010 MRI criteria in specificity, accuracy, and PPV, but inferior in sensitivity and NPV. Copyright © 2018 Korean Neurological Association.

Multi-criteria clinical decision support: A primer on the use of multiple criteria decision making methods to promote evidence-based, patient-centered healthcare.

Science.gov (United States)

Dolan, James G

2010-01-01

Current models of healthcare quality recommend that patient management decisions be evidence-based and patient-centered. Evidence-based decisions require a thorough understanding of current information regarding the natural history of disease and the anticipated outcomes of different management options. Patient-centered decisions incorporate patient preferences, values, and unique personal circumstances into the decision making process and actively involve both patients along with health care providers as much as possible. Fundamentally, therefore, evidence-based, patient-centered decisions are multi-dimensional and typically involve multiple decision makers.Advances in the decision sciences have led to the development of a number of multiple criteria decision making methods. These multi-criteria methods are designed to help people make better choices when faced with complex decisions involving several dimensions. They are especially helpful when there is a need to combine "hard data" with subjective preferences, to make trade-offs between desired outcomes, and to involve multiple decision makers. Evidence-based, patient-centered clinical decision making has all of these characteristics. This close match suggests that clinical decision support systems based on multi-criteria decision making techniques have the potential to enable patients and providers to carry out the tasks required to implement evidence-based, patient-centered care effectively and efficiently in clinical settings.The goal of this paper is to give readers a general introduction to the range of multi-criteria methods available and show how they could be used to support clinical decision-making. Methods discussed include the balance sheet, the even swap method, ordinal ranking methods, direct weighting methods, multi-attribute decision analysis, and the analytic hierarchy process (AHP).

[Current description of multiple sclerosis].

Science.gov (United States)

Río, Jordi; Montalbán, Xavier

2014-12-01

Multiple sclerosis is a multifocal demyelinating disease leading to progressive neurodegeneration caused by an autoimmune response in genetically predisposed individuals. In the last few years, the knowledge and management of this disease has been revolutionized by a series of findings. The present article reviews pathological features of the disease, in which cortical involvement is increasingly implicated, and aspects related to novel pathogenic mechanisms, such as the role of the microbiota in the genesis of multiple sclerosis, as well as recent contributions from the fields of epidemiology and genetics. Also reviewed are the latest diagnostic criteria, which currently allow a much earlier diagnosis, with clear therapeutic implications. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

[Application of Multiple Genetic Markers in a Case of Determination of Half Sibling].

Science.gov (United States)

Yang, Xue; Shi, Mei-sen; Yuan, Li; Lu, Di

2016-02-01

A case of half sibling was determined with multiple genetic markers, which could be potentially applied for determination of half sibling relationship from same father. Half sibling relationship was detected by 39 autosomal STR genetic markers, 23 Y-chromosomal STR genetic markers and 12 X -chromosomal STR genetic markers among ZHAO -1, ZHAO -2, ZHAO -3, ZHAO -4, and ZHAO-5. According to autosomal STR, Y-STR and X-STR genotyping results, it was determined that ZHAO-4 (alleged half sibling) was unrelated with ZHAO-1 and ZHAO-2; however, ZHAO-3 (alleged half sibling), ZHAO-5 (alleged half sibling) shared same genetic profile with ZHAO-1, and ZHAO-2 from same father. It is reliable to use multiple genetic markers and family gene reconstruction to determine half sibling relationship from same father, but it is difficult to determination by calculating half sibling index with ITO and discriminant functions.

Multiple-Trait Genomic Selection Methods Increase Genetic Value Prediction Accuracy

Science.gov (United States)

Jia, Yi; Jannink, Jean-Luc

2012-01-01

Genetic correlations between quantitative traits measured in many breeding programs are pervasive. These correlations indicate that measurements of one trait carry information on other traits. Current single-trait (univariate) genomic selection does not take advantage of this information. Multivariate genomic selection on multiple traits could accomplish this but has been little explored and tested in practical breeding programs. In this study, three multivariate linear models (i.e., GBLUP, BayesA, and BayesCπ) were presented and compared to univariate models using simulated and real quantitative traits controlled by different genetic architectures. We also extended BayesA with fixed hyperparameters to a full hierarchical model that estimated hyperparameters and BayesCπ to impute missing phenotypes. We found that optimal marker-effect variance priors depended on the genetic architecture of the trait so that estimating them was beneficial. We showed that the prediction accuracy for a low-heritability trait could be significantly increased by multivariate genomic selection when a correlated high-heritability trait was available. Further, multiple-trait genomic selection had higher prediction accuracy than single-trait genomic selection when phenotypes are not available on all individuals and traits. Additional factors affecting the performance of multiple-trait genomic selection were explored. PMID:23086217

Nonlinear Knowledge in Kernel-Based Multiple Criteria Programming Classifier

Science.gov (United States)

Zhang, Dongling; Tian, Yingjie; Shi, Yong

Kernel-based Multiple Criteria Linear Programming (KMCLP) model is used as classification methods, which can learn from training examples. Whereas, in traditional machine learning area, data sets are classified only by prior knowledge. Some works combine the above two classification principle to overcome the defaults of each approach. In this paper, we propose a model to incorporate the nonlinear knowledge into KMCLP in order to solve the problem when input consists of not only training example, but also nonlinear prior knowledge. In dealing with real world case breast cancer diagnosis, the model shows its better performance than the model solely based on training data.

Genetic and Environmental Structure of DSM-IV Criteria for Antisocial Personality Disorder: A Twin Study.

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Rosenström, Tom; Ystrom, Eivind; Torvik, Fartein Ask; Czajkowski, Nikolai Olavi; Gillespie, Nathan A; Aggen, Steven H; Krueger, Robert F; Kendler, Kenneth S; Reichborn-Kjennerud, Ted

2017-05-01

Results from previous studies on DSM-IV and DSM-5 Antisocial Personality Disorder (ASPD) have suggested that the construct is etiologically multidimensional. To our knowledge, however, the structure of genetic and environmental influences in ASPD has not been examined using an appropriate range of biometric models and diagnostic interviews. The 7 ASPD criteria (section A) were assessed in a population-based sample of 2794 Norwegian twins by a structured interview for DSM-IV personality disorders. Exploratory analyses were conducted at the phenotypic level. Multivariate biometric models, including both independent and common pathways, were compared. A single phenotypic factor was found, and the best-fitting biometric model was a single-factor common pathway model, with common-factor heritability of 51% (95% CI 40-67%). In other words, both genetic and environmental correlations between the ASPD criteria could be accounted for by a single common latent variable. The findings support the validity of ASPD as a unidimensional diagnostic construct.

Assessment of hydrogen fuel cell applications using fuzzy multiple-criteria decision making method

International Nuclear Information System (INIS)

Chang, Pao-Long; Hsu, Chiung-Wen; Lin, Chiu-Yue

2012-01-01

Highlights: ► This study uses the fuzzy MCDM method to assess hydrogen fuel cell applications. ► We evaluate seven different hydrogen fuel cell applications based on 14 criteria. ► Results show that fuel cell backup power systems should be chosen for development in Taiwan. -- Abstract: Assessment is an essential process in framing government policy. It is critical to select the appropriate targets to meet the needs of national development. This study aimed to develop an assessment model for evaluating hydrogen fuel cell applications and thus provide a screening tool for decision makers. This model operates by selecting evaluation criteria, determining criteria weights, and assessing the performance of hydrogen fuel cell applications for each criterion. The fuzzy multiple-criteria decision making method was used to select the criteria and the preferred hydrogen fuel cell products based on information collected from a group of experts. Survey questionnaires were distributed to collect opinions from experts in different fields. After the survey, the criteria weights and a ranking of alternatives were obtained. The study first defined the evaluation criteria in terms of the stakeholders, so that comprehensive influence criteria could be identified. These criteria were then classified as environmental, technological, economic, or social to indicate the purpose of each criterion in the assessment process. The selected criteria included 14 indicators, such as energy efficiency and CO 2 emissions, as well as seven hydrogen fuel cell applications, such as forklifts and backup power systems. The results show that fuel cell backup power systems rank the highest, followed by household fuel cell electric-heat composite systems. The model provides a screening tool for decision makers to select hydrogen-related applications.

The genetics of multiple sclerosis: review of current and emerging candidates

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Muñoz-Culla M

2013-08-01

Full Text Available Maider Muñoz-Culla,1,2 Haritz Irizar,1,2 David Otaegui1,2 1Multiple Sclerosis Unit, Instituto Biodonostia, San Sebastián, Spain; 2Red Española de Esclerosis Múltiple (REEM, Barcelona, Spain Abstract: Multiple sclerosis (MS is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. Keywords: multiple sclerosis, genetics, gene expression, microRNA

Assessment of Different Metal Screw Joint Parameters by Using Multiple Criteria Analysis Methods

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Audrius Čereška

2018-05-01

Full Text Available This study compares screw joints made of different materials, including screws of different diameters. For that purpose, 8, 10, 12, 14, 16 mm diameter steel screws and various parts made of aluminum (Al, steel (Stl, bronze (Brz, cast iron (CI, copper (Cu and brass (Br are considered. Multiple criteria decision making (MCDM methods such as evaluation based on distance from average solution (EDAS, simple additive weighting (SAW, technique for order of preference by similarity to ideal solution (TOPSIS and complex proportional assessment (COPRAS are utilized to assess reliability of screw joints also considering cost issues. The entropy, criterion impact loss (CILOS and integrated determination of objective criteria weights (IDOCRIW methods are utilized to assess weights of decision criteria and find the best design alternative. Numerical results confirm the validity of the proposed approach.

Diagnosing ARVC in Pediatric Patients Applying the Revised Task Force Criteria: Importance of Imaging, 12-Lead ECG, and Genetics.

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Steinmetz, Michael; Krause, Ulrich; Lauerer, Peter; Konietschke, Frank; Aguayo, Randolph; Ritter, Christian Oliver; Schuster, Andreas; Lotz, Joachim; Paul, Thomas; Staab, Wieland

2018-05-12

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially lethal disease that is well described in adults. In pediatric patients, however, identification of patients at risk of adverse events of ARVC remains a challenge. We aimed to determine which criteria of the revised Task Force Criteria (rTFC), alone or combined, have an impact on diagnosis of ARVC when compared to disease-specific genetic mutations in pediatric patients ≤ 18 years. Between September 2010 and December 2013, 48 consecutive young patients ≤ 18 years of age (mean 14, range of 12.9-15.1 years) underwent contrast-enhanced magnetic resonance imaging (CMR), genetic testing, and comprehensive clinical work-up for ARVC criteria to test for clinically suspected ARVC. As specified by the rTFC, patients were grouped into four categories: "definite," "borderline," "possible," and "none" ARVC. Of the 48 patients, 12 were found to have gene mutations of either the desmoplakin (9/12) or plakophilin (3/12) locus. According to rTFC 12/48 patients were considered as "definite" ARVC (25%), while 10/12 (83.3%) had an ARVC-specific gene mutation. Of the remaining 36 patients, 6 (12.5%) were grouped as "borderline" ARVC, 7 (14.6%) as "possible" ARVC (including the remaining two genetic mutations), and 22 (45.8%) as "none" ARVC, respectively. Statistical analysis of ARVC criteria in patients diagnosed with "definite" ARVC revealed high prevalence of positive findings by imaging (CMR and echocardiography) and positive genetics. The positive predictive value to detect "definite" ARVC by genotyping was 83.3%, while the negative predictive value was 94%. Logistic regression analyses for different criteria combinations revealed that imaging modalities (echo and CMR combined) and abnormalities of 12-lead ECG were significant markers (p < 0.01). Positive results of endomyocardial biopsies or arrhythmia on ECG or Holter as defined by the rTFC were not significant in this analysis. The rTFC for

The strategic selecting criteria and performance by using the multiple criteria method

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Lisa Y. Chen

2008-02-01

Full Text Available As the increasing competitive intensity in the current service market, organizational capabilities have been recognized as the importance of sustaining competitive advantage. The profitable growth for the firms has been fueled a need to systematically assess and renew the organization. The purpose of this study is to analyze the financial performance of the firms to create an effective evaluating structure for the Taiwan's service industry. This study utilized TOPSIS (technique for order preference by similarity to ideal solution method to evaluate the operating performance of 12 companies. TOPSIS is a multiple criteria decision making method to identify solutions from a finite set of alternatives based upon simultaneous minimization of distance from an ideal point and maximization of distance from a nadir point. By using this approach, this study measures the financial performance of firms through two aspects and ten indicators. The result indicated e-life had outstanding performance among the 12 retailers. The findings of this study provided managers to better understand their market position, competition, and profitability for future strategic planning and operational management.

A multiple criteria analysis for household solid waste management in the urban community of Dakar.

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Kapepula, Ka-Mbayu; Colson, Gerard; Sabri, Karim; Thonart, Philippe

2007-01-01

Household solid waste management is a severe problem in big cities of developing countries. Mismanaged solid waste dumpsites produce bad sanitary, ecological and economic consequences for the whole population, especially for the poorest urban inhabitants. Dealing with this problem, this paper utilizes field data collected in the urban community of Dakar, in view of ranking nine areas of the city with respect to multiple criteria of nuisance. Nine criteria are built and organized in three families that represent three classical viewpoints: the production of wastes, their collection and their treatment. Thanks to the method PROMETHEE and the software ARGOS, we do a pair-wise comparison of the nine areas, which allows their multiple criteria rankings according to each viewpoint and then globally. Finding the worst and best areas in terms of nuisance for a better waste management in the city is our final purpose, fitting as well as possible the needs of the urban community. Based on field knowledge and on the literature, we suggest applying general and area-specific remedies to the household solid waste problems.

Interpretation criteria for FDG PET/CT in multiple myeloma (IMPeTUs): final results. IMPeTUs (Italian myeloma criteria for PET USe).

Science.gov (United States)

Nanni, Cristina; Versari, Annibale; Chauvie, Stephane; Bertone, Elisa; Bianchi, Andrea; Rensi, Marco; Bellò, Marilena; Gallamini, Andrea; Patriarca, Francesca; Gay, Francesca; Gamberi, Barbara; Ghedini, Pietro; Cavo, Michele; Fanti, Stefano; Zamagni, Elena

2018-05-01

ᅟ: FDG PET/CT ( 18 F-fluoro-deoxy-glucose positron emission tomography/computed tomography) is a useful tool to image multiple myeloma (MM). However, simple and reproducible reporting criteria are still lacking and there is the need for harmonization. Recently, a group of Italian nuclear medicine experts defined new visual descriptive criteria (Italian Myeloma criteria for Pet Use: IMPeTUs) to standardize FDG PET/CT evaluation in MM patients. The aim of this study was to assess IMPeTUs reproducibility on a large prospective cohort of MM patients. Patients affected by symptomatic MM who had performed an FDG PET/CT at baseline (PET0), after induction (PET-AI), and the end of treatment (PET-EoT) were prospectively enrolled in a multicenter trial (EMN02)(NCT01910987; MMY3033). After anonymization, PET images were uploaded in the web platform WIDEN® and hence distributed to five expert nuclear medicine reviewers for a blinded independent central review according to the IMPeTUs criteria. Consensus among reviewers was measured by the percentage of agreement and the Krippendorff's alpha. Furthermore, on a patient-based analysis, the concordance among all the reviewers in terms of positivity or negativity of the FDG PET/CT scan was tested for different thresholds of positivity (Deauville score (DS 2, 3, 4, 5) for the main parameters (bone marrow, focal score, extra-medullary disease). Eighty-six patients (211 FDG PET/CT scans) were included in this analysis. Median patient age was 58 years (range, 35-66 years), 45% were male, 15% of them were in stage ISS (International Staging System) III, and 42% had high-risk cytogenetics. The percentage agreement was superior to 75% for all the time points, reaching 100% of agreement in assessing the presence skull lesions after therapy. Comparable results were obtained when the agreement analysis was performed using the Krippendorff's alpha coefficient, either in every single time point of scanning (PET0, PET-AI or PET-EoT) or

The computer-aided design of a servo system as a multiple-criteria decision problem

NARCIS (Netherlands)

Udink ten Cate, A.J.

1986-01-01

This paper treats the selection of controller gains of a servo system as a multiple-criteria decision problem. In contrast to the usual optimization-based approaches to computer-aided design, inequality constraints are included in the problem as unconstrained objectives. This considerably simplifies

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.

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.

Dual worth trade-off method and its application for solving multiple criteria decision making problems

Institute of Scientific and Technical Information of China (English)

Feng Junwen

2006-01-01

To overcome the limitations of the traditional surrogate worth trade-off (SWT) method and solve the multiple criteria decision making problem more efficiently and interactively, a new method labeled dual worth trade-off (DWT) method is proposed. The DWT method dynamically uses the duality theory related to the multiple criteria decision making problem and analytic hierarchy process technique to obtain the decision maker's solution preference information and finally find the satisfactory compromise solution of the decision maker. Through the interactive process between the analyst and the decision maker, trade-off information is solicited and treated properly, the representative subset of efficient solutions and the satisfactory solution to the problem are found. The implementation procedure for the DWT method is presented. The effectiveness and applicability of the DWT method are shown by a practical case study in the field of production scheduling.

A Particle Swarm Optimization Approach to Composing Serial Test Sheets for Multiple Assessment Criteria

Science.gov (United States)

Yin, Peng-Yeng; Chang, Kuang-Cheng; Hwang, Gwo-Jen; Hwang, Gwo-Haur; Chan, Ying

2006-01-01

To accurately analyze the problems of students in learning, the composed test sheets must meet multiple assessment criteria, such as the ratio of relevant concepts to be evaluated, the average discrimination degree, difficulty degree and estimated testing time. Furthermore, to precisely evaluate the improvement of student's learning performance…

A yeast screening system for simultaneously monitoring multiple genetic endpoints

International Nuclear Information System (INIS)

Dixon, M.L.; Mortimer, R.K.

1986-01-01

Mutation, recombination, and mitochondrial deficiencies have been proposed to have roles in the carcinogenic process. The authors describe a diploid strain of the yeast Saccharomyces cerevisiae capable of detecting this wide spectrum of genetic changes. The markers used for monitoring these events have been especially well characterized genetically. Ultraviolet light was chosen as a model carcinogenic agent to test this system. In addition to highly significant increases in the frequencies of each genetic change, increases in the absolute numbers of each change indicated induction and not selective survival. The relative amounts of each type of genetic change varied with dose. The wide spectrum of endpoints monitored in the XD83 yeast system may allow the detection of certain carcinogens and other genetically toxic agents which have escaped detection in more limited systems. Since only one strain is required to simultaneously monitor these genetic changes, this assay system should facilitate comparisons of the induced changes and be more efficient than using multiple strains to monitor the same endpoints. (Auth.)

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

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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

Multiple depots vehicle routing based on the ant colony with the genetic algorithm

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ChunYing Liu

2013-09-01

Full Text Available Purpose: the distribution routing plans of multi-depots vehicle scheduling problem will increase exponentially along with the adding of customers. So, it becomes an important studying trend to solve the vehicle scheduling problem with heuristic algorithm. On the basis of building the model of multi-depots vehicle scheduling problem, in order to improve the efficiency of the multiple depots vehicle routing, the paper puts forward a fusion algorithm on multiple depots vehicle routing based on the ant colony algorithm with genetic algorithm. Design/methodology/approach: to achieve this objective, the genetic algorithm optimizes the parameters of the ant colony algorithm. The fusion algorithm on multiple depots vehicle based on the ant colony algorithm with genetic algorithm is proposed. Findings: simulation experiment indicates that the result of the fusion algorithm is more excellent than the other algorithm, and the improved algorithm has better convergence effective and global ability. Research limitations/implications: in this research, there are some assumption that might affect the accuracy of the model such as the pheromone volatile factor, heuristic factor in each period, and the selected multiple depots. These assumptions can be relaxed in future work. Originality/value: In this research, a new method for the multiple depots vehicle routing is proposed. The fusion algorithm eliminate the influence of the selected parameter by optimizing the heuristic factor, evaporation factor, initial pheromone distribute, and have the strong global searching ability. The Ant Colony algorithm imports cross operator and mutation operator for operating the first best solution and the second best solution in every iteration, and reserves the best solution. The cross and mutation operator extend the solution space and improve the convergence effective and the global ability. This research shows that considering both the ant colony and genetic algorithm

A Hybrid Multiple-Criteria Decision-Making Approach for Photovoltaic Solar Plant Location Selection

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Amy H. I. Lee

2017-01-01

Full Text Available Due to decaying fossil resource and increasing environmental consciousness, the demand of renewable energy resources is escalating these days. Photovoltaic solar energy is one of the most popular renewable energy resources in places where sunlight is abundant. The selection of a desirable location for constructing a photovoltaic solar plant is the first and one of the most important stages in the plant construction to provide a long-term energy production. In this paper, a comprehensive multiple-criteria decision-making model, which incorporates the interpretive structural modeling (ISM, fuzzy analytic network process (FANP and VIKOR (VlseKriterijumska OptimizacijaI Kompromisno Resenje in Serbian,meaning multi-criteria optimization and compromise solution, is proposed to select the most suitable photovoltaic solar plant location. The ISM is applied first to determine the interrelationships among the criteria and among the sub-criteria,andtheresults are used to construct a decision-making network. The FANP is applied next to solve the network and to calculate the importance weights of the sub-criteria. Finally, the VIKOR is adopted to determine the ranking of the photovoltaic solar plant locations. The proposed model is applied in a case study in evaluating photovoltaic solar plant locations in Taiwan. By applying the proposed model, decision makers can have a better thinking process and make more appropriate decisions justifiably.

Mapping of multiple criteria for priority setting of health interventions: an aid for decision makers

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Tromp Noor

2012-12-01

Full Text Available Abstract Background In rationing decisions in health, many criteria like costs, effectiveness, equity and feasibility concerns play a role. These criteria stem from different disciplines that all aim to inform health care rationing decisions, but a single underlying concept that incorporates all criteria does not yet exist. Therefore, we aim to develop a conceptual mapping of criteria, based on the World Health Organization’s Health Systems Performance and Health Systems Building Blocks frameworks. This map can be an aid to decision makers to identify the relevant criteria for priority setting in their specific context. Methods We made an inventory of all possible criteria for priority setting on the basis of literature review. We categorized the criteria according to both health system frameworks that spell out a country’s health system goals and input. We reason that the criteria that decision makers use in priority setting exercises are a direct manifestation of this. Results Our map includes thirty-one criteria that are distributed among five categories that reflect the goals of a health system (i.e. to improve level of health, fair distribution of health, responsiveness, social & financial risk protection and efficiency and leadership/governance one category that reflects feasibiliy based on the health system building blocks (i.e. service delivery, health care workforce , information, medical products, vaccines & technologies, financing and. Conclusions This conceptual mapping of criteria, based on well-established health system frameworks, will further develop the field of priority setting by assisting decision makers in the identification of multiple criteria for selection of health interventions.

Genomic multiple sequence alignments: refinement using a genetic algorithm

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Lefkowitz Elliot J

2005-08-01

Full Text Available Abstract Background Genomic sequence data cannot be fully appreciated in isolation. Comparative genomics – the practice of comparing genomic sequences from different species – plays an increasingly important role in understanding the genotypic differences between species that result in phenotypic differences as well as in revealing patterns of evolutionary relationships. One of the major challenges in comparative genomics is producing a high-quality alignment between two or more related genomic sequences. In recent years, a number of tools have been developed for aligning large genomic sequences. Most utilize heuristic strategies to identify a series of strong sequence similarities, which are then used as anchors to align the regions between the anchor points. The resulting alignment is globally correct, but in many cases is suboptimal locally. We describe a new program, GenAlignRefine, which improves the overall quality of global multiple alignments by using a genetic algorithm to improve local regions of alignment. Regions of low quality are identified, realigned using the program T-Coffee, and then refined using a genetic algorithm. Because a better COFFEE (Consistency based Objective Function For alignmEnt Evaluation score generally reflects greater alignment quality, the algorithm searches for an alignment that yields a better COFFEE score. To improve the intrinsic slowness of the genetic algorithm, GenAlignRefine was implemented as a parallel, cluster-based program. Results We tested the GenAlignRefine algorithm by running it on a Linux cluster to refine sequences from a simulation, as well as refine a multiple alignment of 15 Orthopoxvirus genomic sequences approximately 260,000 nucleotides in length that initially had been aligned by Multi-LAGAN. It took approximately 150 minutes for a 40-processor Linux cluster to optimize some 200 fuzzy (poorly aligned regions of the orthopoxvirus alignment. Overall sequence identity increased only

Uncovering the genetic landscape for multiple sleep-wake traits.

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Christopher J Winrow

Full Text Available Despite decades of research in defining sleep-wake properties in mammals, little is known about the nature or identity of genes that regulate sleep, a fundamental behaviour that in humans occupies about one-third of the entire lifespan. While genome-wide association studies in humans and quantitative trait loci (QTL analyses in mice have identified candidate genes for an increasing number of complex traits and genetic diseases, the resources and time-consuming process necessary for obtaining detailed quantitative data have made sleep seemingly intractable to similar large-scale genomic approaches. Here we describe analysis of 20 sleep-wake traits from 269 mice from a genetically segregating population that reveals 52 significant QTL representing a minimum of 20 genomic loci. While many (28 QTL affected a particular sleep-wake trait (e.g., amount of wake across the full 24-hr day, other loci only affected a trait in the light or dark period while some loci had opposite effects on the trait during the light vs. dark. Analysis of a dataset for multiple sleep-wake traits led to previously undetected interactions (including the differential genetic control of number and duration of REM bouts, as well as possible shared genetic regulatory mechanisms for seemingly different unrelated sleep-wake traits (e.g., number of arousals and REM latency. Construction of a Bayesian network for sleep-wake traits and loci led to the identification of sub-networks of linkage not detectable in smaller data sets or limited single-trait analyses. For example, the network analyses revealed a novel chain of causal relationships between the chromosome 17@29cM QTL, total amount of wake, and duration of wake bouts in both light and dark periods that implies a mechanism whereby overall sleep need, mediated by this locus, in turn determines the length of each wake bout. Taken together, the present results reveal a complex genetic landscape underlying multiple sleep-wake traits

A predictive validity study of the Learning Style Questionnaire (LSQ) using multiple, specific learning criteria

NARCIS (Netherlands)

Kappe, F.R.; Boekholt, L.; den Rooyen, C.; van der Flier, H.

2009-01-01

Multiple and specific learning criteria were used to examine the predictive validity of the Learning Style Questionnaire (LSQ). Ninety-nine students in a college of higher learning in The Netherlands participated in a naturally occurring field study. The students were categorized into one of four

Multiple-Criteria Decision-Making in the Design of Innovative Lock Walls for Barge Impact; Phase 1

National Research Council Canada - National Science Library

Lambert, James

2001-01-01

.... This research project consists of two phases: Phase 1, which culminates with this report, investigated the use of multiple-criteria decision-making in the design process of lock approach walls to consider barge impact and earthquake loads...

Multiple criteria facility location probems : a survey

NARCIS (Netherlands)

Farahani, R.Z.; Steadie Seifi, M.; Asgari, N.

2010-01-01

This paper provides a review on recent efforts and development in multi-criteria location problems in three categories including bi-objective, multi-objective and multi-attribute problems and their solution methods. Also, it provides an overview on various criteria used. While there are a few

A Multiple Criteria Decision Making Method Based on Relative Value Distances

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Shyur Huan-jyh

2015-12-01

Full Text Available This paper proposes a new multiple criteria decision-making method called ERVD (election based on relative value distances. The s-shape value function is adopted to replace the expected utility function to describe the risk-averse and risk-seeking behavior of decision makers. Comparisons and experiments contrasting with the TOPSIS (Technique for Order Preference by Similarity to the Ideal Solution method are carried out to verify the feasibility of using the proposed method to represent the decision makers’ preference in the decision making process. Our experimental results show that the proposed approach is an appropriate and effective MCDM method.

The effect of multiple paternity on genetic diversity of small populations during and after colonisation.

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Marina Rafajlović

Full Text Available Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration has been reached. During colonisation, multiple mating by [Formula: see text] males increased the heterozygosity by [Formula: see text] in comparison with single paternity, while in the steady state the increase was [Formula: see text] compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity.

The Effect of Multiple Paternity on Genetic Diversity of Small Populations during and after Colonisation

KAUST Repository

Rafajlović, Marina

2013-10-28

Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by 2-10 males increased the heterozygosity by 10-300% in comparison with single paternity, while in the steady state the increase was 10-50% compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. 2013 Rafajlovi? et al.

Feature extraction from multiple data sources using genetic programming.

Energy Technology Data Exchange (ETDEWEB)

Szymanski, J. J. (John J.); Brumby, Steven P.; Pope, P. A. (Paul A.); Eads, D. R. (Damian R.); Galassi, M. C. (Mark C.); Harvey, N. R. (Neal R.); Perkins, S. J. (Simon J.); Porter, R. B. (Reid B.); Theiler, J. P. (James P.); Young, A. C. (Aaron Cody); Bloch, J. J. (Jeffrey J.); David, N. A. (Nancy A.); Esch-Mosher, D. M. (Diana M.)

2002-01-01

Feature extration from imagery is an important and long-standing problem in remote sensing. In this paper, we report on work using genetic programming to perform feature extraction simultaneously from multispectral and digital elevation model (DEM) data. The tool used is the GENetic Imagery Exploitation (GENIE) software, which produces image-processing software that inherently combines spatial and spectral processing. GENIE is particularly useful in exploratory studies of imagery, such as one often does in combining data from multiple sources. The user trains the software by painting the feature of interest with a simple graphical user interface. GENIE then uses genetic programming techniques to produce an image-processing pipeline. Here, we demonstrate evolution of image processing algorithms that extract a range of land-cover features including towns, grasslands, wild fire burn scars, and several types of forest. We use imagery from the DOE/NNSA Multispectral Thermal Imager (MTI) spacecraft, fused with USGS 1:24000 scale DEM data.

Application of a Genetic Algorithm to the Optimization of a Missile Autopilot Controller for Performance Criteria with Non-Analytic Solutions

National Research Council Canada - National Science Library

Hull, Richard

1993-01-01

.... Genetic algorithms (GA's), on the other hand, offer a numerical search method which does not require a statement of the mathematical relationship between the performance criteria and the parameter update rule...

Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients

KAUST Repository

James, Tojo; Lindé n, Magdalena; Morikawa, Hiromasa; Fernandes, Sunjay Jude; Ruhrmann, Sabrina; Huss, Mikael; Brandi, Maya; Piehl, Fredrik; Jagodic, Maja; Tegner, Jesper; Khademi, Mohsen; Olsson, Tomas; Gomez-Cabrero, David; Kockum, Ingrid

2018-01-01

Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as Multiple Sclerosis (MS

Multiple genetic interaction experiments provide complementary information useful for gene function prediction.

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Magali Michaut

Full Text Available Genetic interactions help map biological processes and their functional relationships. A genetic interaction is defined as a deviation from the expected phenotype when combining multiple genetic mutations. In Saccharomyces cerevisiae, most genetic interactions are measured under a single phenotype - growth rate in standard laboratory conditions. Recently genetic interactions have been collected under different phenotypic readouts and experimental conditions. How different are these networks and what can we learn from their differences? We conducted a systematic analysis of quantitative genetic interaction networks in yeast performed under different experimental conditions. We find that networks obtained using different phenotypic readouts, in different conditions and from different laboratories overlap less than expected and provide significant unique information. To exploit this information, we develop a novel method to combine individual genetic interaction data sets and show that the resulting network improves gene function prediction performance, demonstrating that individual networks provide complementary information. Our results support the notion that using diverse phenotypic readouts and experimental conditions will substantially increase the amount of gene function information produced by genetic interaction screens.

Novel multiple criteria decision making methods based on bipolar neutrosophic sets and bipolar neutrosophic graphs

OpenAIRE

Muhammad, Akram; Musavarah, Sarwar

2016-01-01

In this research study, we introduce the concept of bipolar neutrosophic graphs. We present the dominating and independent sets of bipolar neutrosophic graphs. We describe novel multiple criteria decision making methods based on bipolar neutrosophic sets and bipolar neutrosophic graphs. We also develop an algorithm for computing domination in bipolar neutrosophic graphs.

Genetic diversity and population structure of Lantana camara in India indicates multiple introductions and gene flow.

Science.gov (United States)

Ray, A; Quader, S

2014-05-01

Lantana camara is a highly invasive plant, which has spread over 60 countries and island groups of Asia, Africa and Australia. In India, it was introduced in the early nineteenth century, since when it has expanded and gradually established itself in almost every available ecosystem. We investigated the genetic diversity and population structure of this plant in India in order to understand its introduction, subsequent range expansion and gene flow. A total of 179 individuals were sequenced at three chloroplast loci and 218 individuals were genotyped for six nuclear microsatellites. Both chloroplasts (nine haplotypes) and microsatellites (83 alleles) showed high genetic diversity. Besides, each type of marker confirmed the presence of private polymorphism. We uncovered low to medium population structure in both markers, and found a faint signal of isolation by distance with microsatellites. Bayesian clustering analyses revealed multiple divergent genetic clusters. Taken together, these findings (i.e. high genetic diversity with private alleles and multiple genetic clusters) suggest that Lantana was introduced multiple times and gradually underwent spatial expansion with recurrent gene flow. © 2013 German Botanical Society and The Royal Botanical Society of the Netherlands.

Microseismic Monitoring Design Optimization Based on Multiple Criteria Decision Analysis

Science.gov (United States)

Kovaleva, Y.; Tamimi, N.; Ostadhassan, M.

2017-12-01

Borehole microseismic monitoring of hydraulic fracture treatments of unconventional reservoirs is a widely used method in the oil and gas industry. Sometimes, the quality of the acquired microseismic data is poor. One of the reasons for poor data quality is poor survey design. We attempt to provide a comprehensive and thorough workflow, using multiple criteria decision analysis (MCDA), to optimize planning micriseismic monitoring. So far, microseismic monitoring has been used extensively as a powerful tool for determining fracture parameters that affect the influx of formation fluids into the wellbore. The factors that affect the quality of microseismic data and their final results include average distance between microseismic events and receivers, complexity of the recorded wavefield, signal-to-noise ratio, data aperture, etc. These criteria often conflict with each other. In a typical microseismic monitoring, those factors should be considered to choose the best monitoring well(s), optimum number of required geophones, and their depth. We use MDCA to address these design challenges and develop a method that offers an optimized design out of all possible combinations to produce the best data acquisition results. We believe that this will be the first research to include the above-mentioned factors in a 3D model. Such a tool would assist companies and practicing engineers in choosing the best design parameters for future microseismic projects.

Multiple criteria decision making with life cycle assessment for material selection of composites

Directory of Open Access Journals (Sweden)

A. S. Milani

2011-12-01

Full Text Available With the advancement of interdisciplinary approaches in today’s modern engineering, current efforts in optimal design of composites include seeking material selection protocols that can (1 simultaneously consider a series of mechanical/electrical/chemical cost criteria over a set of alternative material options, and (2 closely take into account environmental aspects of final products including recycling and end-of-life disposal options. In this paper, in addition to a review of some recent experimental and methodological advances in the above areas, a new application of multiple criteria decision making (MCDM is presented to deal with decision conflicts often seen among design criteria in composite material selection with the help of life cycle assessment (LCA. To show the application, an illustrative case study on a plastic gear material selection is conducted where the cost, mechanical and thermal properties along with environmental impact criteria are to be satisfied simultaneously. A pure plastic gear is compared to a Polyethylene terephthalate (PET/aluminum-powder composite alternative. Results suggest that simple MCDM models, including a signal-to-noise measure adapted to MCDM in the same case study, can be used to explore both trade-offs and design break-even points in large decision spaces as the decision maker’s perspective over environmental, material performance and cost attributes change during the design process. More advanced topics including the account of material data uncertainties are addressed.

User-Centric Multi-Criteria Information Retrieval

Science.gov (United States)

Wolfe, Shawn R.; Zhang, Yi

2009-01-01

Information retrieval models usually represent content only, and not other considerations, such as authority, cost, and recency. How could multiple criteria be utilized in information retrieval, and how would it affect the results? In our experiments, using multiple user-centric criteria always produced better results than a single criteria.

Scenario-informed multiple criteria analysis for prioritizing investments in electricity capacity expansion

International Nuclear Information System (INIS)

Martinez, Lauro J.; Lambert, James H.; Karvetski, Christopher W.

2011-01-01

Planning the expansion and energy security of electricity capacity for a national electricity utility is a complex task in almost any economy. Planning is usually an iterative activity and can involve the use of large scale planning optimization systems accompanied by assessment of uncertain scenarios emerging from economic, technological, environmental, and regulatory developments. This paper applies a multiple criteria decision analysis to prioritize investment portfolios in capacity expansion and energy security while principally studying the robustness of the prioritization to multiple uncertain and emergent scenarios. The scenarios are identified through interaction with decision makers and stakeholders. The approach finds which scenarios most affect the prioritization of the portfolios and which portfolios have the greatest upside and downside potential across scenarios. The approach fosters innovation in the use of robust and efficient technologies, renewable energy sources, and cleaner energy fuels. A demonstration is provided for assessing the performance of technology portfolios constructed from investments in nine electricity generation technologies in Mexico.

Criteria for Authorship in Bioethics

OpenAIRE

Resnik, David B.; Master, Zubin

2011-01-01

Multiple authorship is becoming increasingly common in bioethics research. There are well-established criteria for authorship in empirical bioethics research but not for conceptual research. It is important to develop criteria for authorship in conceptual publications to prevent undeserved authorship and uphold standards of fairness and accountability. This article explores the issue of multiple authorship in bioethics and develops criteria for determining who should be an author on a concept...

Optimization of Multiple Traveling Salesman Problem Based on Simulated Annealing Genetic Algorithm

Directory of Open Access Journals (Sweden)

Xu Mingji

2017-01-01

Full Text Available It is very effective to solve the multi variable optimization problem by using hierarchical genetic algorithm. This thesis analyzes both advantages and disadvantages of hierarchical genetic algorithm and puts forward an improved simulated annealing genetic algorithm. The new algorithm is applied to solve the multiple traveling salesman problem, which can improve the performance of the solution. First, it improves the design of chromosomes hierarchical structure in terms of redundant hierarchical algorithm, and it suggests a suffix design of chromosomes; Second, concerning to some premature problems of genetic algorithm, it proposes a self-identify crossover operator and mutation; Third, when it comes to the problem of weak ability of local search of genetic algorithm, it stretches the fitness by mixing genetic algorithm with simulated annealing algorithm. Forth, it emulates the problems of N traveling salesmen and M cities so as to verify its feasibility. The simulation and calculation shows that this improved algorithm can be quickly converged to a best global solution, which means the algorithm is encouraging in practical uses.

Results of Evolution Supervised by Genetic Algorithms

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Lorentz JÄNTSCHI

2010-09-01

Full Text Available The efficiency of a genetic algorithm is frequently assessed using a series of operators of evolution like crossover operators, mutation operators or other dynamic parameters. The present paper aimed to review the main results of evolution supervised by genetic algorithms used to identify solutions to agricultural and horticultural hard problems and to discuss the results of using a genetic algorithms on structure-activity relationships in terms of behavior of evolution supervised by genetic algorithms. A genetic algorithm had been developed and implemented in order to identify the optimal solution in term of estimation power of a multiple linear regression approach for structure-activity relationships. Three survival and three selection strategies (proportional, deterministic and tournament were investigated in order to identify the best survival-selection strategy able to lead to the model with higher estimation power. The Molecular Descriptors Family for structure characterization of a sample of 206 polychlorinated biphenyls with measured octanol-water partition coefficients was used as case study. Evolution using different selection and survival strategies proved to create populations of genotypes living in the evolution space with different diversity and variability. Under a series of criteria of comparisons these populations proved to be grouped and the groups were showed to be statistically different one to each other. The conclusions about genetic algorithm evolution according to a number of criteria were also highlighted.

Genetic structuring of northern myotis (Myotis septentrionalis) at multiple spatial scales

Science.gov (United States)

Johnson, Joshua B.; Roberts, James H.; King, Timothy L.; Edwards, John W.; Ford, W. Mark; Ray, David A.

2014-01-01

Although groups of bats may be genetically distinguishable at large spatial scales, the effects of forest disturbances, particularly permanent land use conversions on fine-scale population structure and gene flow of summer aggregations of philopatric bat species are less clear. We genotyped and analyzed variation at 10 nuclear DNA microsatellite markers in 182 individuals of the forest-dwelling northern myotis (Myotis septentrionalis) at multiple spatial scales, from within first-order watersheds scaling up to larger regional areas in West Virginia and New York. Our results indicate that groups of northern myotis were genetically indistinguishable at any spatial scale we considered, and the collective population maintained high genetic diversity. It is likely that the ability to migrate, exploit small forest patches, and use networks of mating sites located throughout the Appalachian Mountains, Interior Highlands, and elsewhere in the hibernation range have allowed northern myotis to maintain high genetic diversity and gene flow regardless of forest disturbances at local and regional spatial scales. A consequence of maintaining high gene flow might be the potential to minimize genetic founder effects following population declines caused currently by the enzootic White-nose Syndrome.

Diagnostic Criteria, Classification and Treatment Goals in Multiple Sclerosis: The Chronicles of Time and Space.

Science.gov (United States)

Ntranos, Achilles; Lublin, Fred

2016-10-01

Multiple sclerosis (MS) is one of the most diverse human diseases. Since its first description by Charcot in the nineteenth century, the diagnostic criteria, clinical course classification, and treatment goals for MS have been constantly revised and updated to improve diagnostic accuracy, physician communication, and clinical trial design. These changes have improved the clinical outcomes and quality of life for patients with the disease. Recent technological and research breakthroughs will almost certainly further change how we diagnose, classify, and treat MS in the future. In this review, we summarize the key events in the history of MS, explain the reasoning behind the current criteria for MS diagnosis, classification, and treatment, and provide suggestions for further improvements that will keep enhancing the clinical practice of MS.

ACR Appropriateness Criteria® Multiple Gestations.

Science.gov (United States)

Glanc, Phyllis; Nyberg, David A; Khati, Nadia J; Deshmukh, Sandeep Prakash; Dudiak, Kika M; Henrichsen, Tara Lynn; Poder, Liina; Shipp, Thomas D; Simpson, Lynn; Weber, Therese M; Zelop, Carolyn M

2017-11-01

Women with twin or higher-order pregnancies will typically have more ultrasound examinations than women with a singleton pregnancy. Most women will have at minimum a first trimester scan, a nuchal translucency evaluation scan, fetal anatomy scan at 18 to 22 weeks, and one or more scans in the third trimester to evaluate growth. Multiple gestations are at higher risk for preterm delivery, congenital anomalies, fetal growth restriction, placenta previa, vasa previa, and velamentous cord insertion. Chorionicity and amnionicity should be determined as early as possible when a twin pregnancy is identified to permit triage of the monochorionic group into a closer surveillance model. Screening for congenital heart disease is warranted in monochorionic twins because they have an increased rate of congenital cardiac anomalies. In addition, monochorionic twins have a higher risk of developing cardiac abnormalities in later gestation related to right ventricular outflow obstruction, in particular the subgroups with twin-twin transfusion syndrome or selective intrauterine growth restriction. Monochorionic twins have unique complications including twin-to-twin transfusion syndrome, twin embolization syndrome, and acardius, or twin-reversed arterial perfusion sequence. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or

Earthquake—explosion discrimination using genetic algorithm-based boosting approach

Science.gov (United States)

Orlic, Niksa; Loncaric, Sven

2010-02-01

An important and challenging problem in seismic data processing is to discriminate between natural seismic events such as earthquakes and artificial seismic events such as explosions. Many automatic techniques for seismogram classification have been proposed in the literature. Most of these methods have a similar approach to seismogram classification: a predefined set of features based on ad-hoc feature selection criteria is extracted from the seismogram waveform or spectral data and these features are used for signal classification. In this paper we propose a novel approach for seismogram classification. A specially formulated genetic algorithm has been employed to automatically search for a near-optimal seismogram feature set, instead of using ad-hoc feature selection criteria. A boosting method is added to the genetic algorithm when searching for multiple features in order to improve classification performance. A learning set of seismogram data is used by the genetic algorithm to discover a near-optimal feature set. The feature set identified by the genetic algorithm is then used for seismogram classification. The described method is developed to classify seismograms in two groups, whereas a brief overview of method extension for multiple group classification is given. For method verification, a learning set consisting of 40 local earthquake seismograms and 40 explosion seismograms was used. The method was validated on seismogram set consisting of 60 local earthquake seismograms and 60 explosion seismograms, with correct classification of 85%.

Structural health monitoring and damage assessment using measured FRFs from multiple sensors. Part I. The indicator of correlation criteria

Energy Technology Data Exchange (ETDEWEB)

Zang, C.; Friswell, M.I. [Dept. of Aerospace Engineering, Univ. of Bristol, Bristol (United Kingdom); Imregun, M. [Dept. of Mechanical Engineering, Imperial Coll., London (United Kingdom)

2003-07-01

This paper presents two criteria for correlating measured frequency responses from multiple sensors and proposes to use them as indicators for structural damage detection. The first criterion is a global shape correlation (GSC) function that is sensitive to mode shape differences but not to relative scales. The second criterion, a global amplitude correlation (GAC) function, is based on actual response amplitudes. Both correlation criteria are a function of frequency and uniquely map a set of complex responses to a real scalar between zero and unity. The averaged integrations of GSC and GAC functions along the frequency points over the measurement range, also called damage indicators, are used to describe the correlation between two sets of vibration data. When a structure state remains unchanged, both correlation criteria are as close to unity simultaneously. Otherwise, the correlation with the reference data will be decreased with changes of structure states. Using GSC and GAC functions has the advantage of being able to deal with incomplete measurements. Also, all available response data are used and hence there is no critical selection of frequency points for damage detection. The above correlation criteria were applied to a bookshelf structure and various cases such as undamaged states, damage locations (single and multiple), damage levels, as well as environmental variability are discussed. As expected, it was found that indicators of correlation criteria were able to identify all various cases correctly. (orig.)

Multiple criteria decision analysis for health technology assessment.

Science.gov (United States)

Thokala, Praveen; Duenas, Alejandra

2012-12-01

Multicriteria decision analysis (MCDA) has been suggested by some researchers as a method to capture the benefits beyond quality adjusted life-years in a transparent and consistent manner. The objectives of this article were to analyze the possible application of MCDA approaches in health technology assessment and to describe their relative advantages and disadvantages. This article begins with an introduction to the most common types of MCDA models and a critical review of state-of-the-art methods for incorporating multiple criteria in health technology assessment. An overview of MCDA is provided and is compared against the current UK National Institute for Health and Clinical Excellence health technology appraisal process. A generic MCDA modeling approach is described, and the different MCDA modeling approaches are applied to a hypothetical case study. A comparison of the different MCDA approaches is provided, and the generic issues that need consideration before the application of MCDA in health technology assessment are examined. There are general practical issues that might arise from using an MCDA approach, and it is suggested that appropriate care be taken to ensure the success of MCDA techniques in the appraisal process. Copyright © 2012 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

The Usage and Perception of Pedestrian Zones in Lithuanian Cities: Multiple Criteria and Comparative Analysis

Directory of Open Access Journals (Sweden)

Rūta Dičiūnaitė-Rauktienė

2018-03-01

Full Text Available As pedestrian zones are public spaces in urban areas, they are important in terms of meeting people’s needs. However, it is worth noting that attention should be paid not only to the development of the physical infrastructure, but also to a sustainable balance between the socio-economic and environmental aspects. To guide urban planning and management initiatives towards more sustainable patterns, it is essential to re-examine the already existing characteristics of cities, establishing how they are used and perceived by inhabitants. The present research suggests environmental, economic and social criteria that determine a greater vitality of pedestrian zones in cities and better life quality for the inhabitants. A questionnaire survey was used to assess common attitudes regarding the research topic in major cities in Lithuania. The multiple criteria decision-making COPRAS (COmplex PRoportional ASsessment method was used for the formation of a priority queue. The research results showed the attitudes of inhabitants towards pedestrian zones in Vilnius, Kaunas and Klaipėda. The inhabitants of these three cities regarded social and environmental criteria groups as the most significant. Contrary to what was expected and anticipated, respondents do not consider economic criteria as playing a key role in the sustainable preservation and development of pedestrian zones.

Methodology for Selecting Best Management Practices Integrating Multiple Stakeholders and Criteria. Part 2: Case Study

Directory of Open Access Journals (Sweden)

Mauricio Carvallo Aceves

2016-02-01

Full Text Available The selection of stormwater Best Management Practices (BMPs for mitigating the effects of urbanization on the hydrological cycle could be a complex process due to conflicting stakeholder views, and varying levels of performance of BMPs across a range of criteria (runoff reduction, erosion control, etc.. Part 1 of this article proposed a methodology based on the application of multi-criteria decision aid (MCDA methods, which was tested here on a residential stormwater network in the Montreal area. The case study considered green roofs, rain gardens, rain barrels and pervious pavement over a range of economic, social, and water quality and quantity criteria by applying 4 MCDA methods under three different stakeholder views. The results indicated Elimination et Choix Traduisant la Réalité (ELECTRE III to be the most appropriate method for the methodology, presenting flexibility concerning threshold values, criteria weights, and showing shared top choices across stakeholders (rain gardens, and rain gardens in combination with pervious pavement. The methodology shows potential for more formal applications and research opportunities. Future work may lie in the inclusion of multiple objective optimization, better stakeholder engagement, estimation of economic benefits, water quality modeling, long-term hydrological simulations, and estimating real BMP pollutant removal rates.

Prediction of protein interaction hot spots using rough set-based multiple criteria linear programming.

Science.gov (United States)

Chen, Ruoying; Zhang, Zhiwang; Wu, Di; Zhang, Peng; Zhang, Xinyang; Wang, Yong; Shi, Yong

2011-01-21

Protein-protein interactions are fundamentally important in many biological processes and it is in pressing need to understand the principles of protein-protein interactions. Mutagenesis studies have found that only a small fraction of surface residues, known as hot spots, are responsible for the physical binding in protein complexes. However, revealing hot spots by mutagenesis experiments are usually time consuming and expensive. In order to complement the experimental efforts, we propose a new computational approach in this paper to predict hot spots. Our method, Rough Set-based Multiple Criteria Linear Programming (RS-MCLP), integrates rough sets theory and multiple criteria linear programming to choose dominant features and computationally predict hot spots. Our approach is benchmarked by a dataset of 904 alanine-mutated residues and the results show that our RS-MCLP method performs better than other methods, e.g., MCLP, Decision Tree, Bayes Net, and the existing HotSprint database. In addition, we reveal several biological insights based on our analysis. We find that four features (the change of accessible surface area, percentage of the change of accessible surface area, size of a residue, and atomic contacts) are critical in predicting hot spots. Furthermore, we find that three residues (Tyr, Trp, and Phe) are abundant in hot spots through analyzing the distribution of amino acids. Copyright © 2010 Elsevier Ltd. All rights reserved.

The Problem of Multiple Criteria Selection of the Surface Mining Haul Trucks

Science.gov (United States)

Bodziony, Przemysław; Kasztelewicz, Zbigniew; Sawicki, Piotr

2016-06-01

Vehicle transport is a dominant type of technological processes in rock mines, and its profit ability is strictly dependent on overall cost of its exploitation, especially on diesel oil consumption. Thus, a rational design of transportation system based on haul trucks should result from thorough analysis of technical and economic issues, including both cost of purchase and its further exploitation, having a crucial impact on the cost of minerals extraction. Moreover, off-highway trucks should be selected with respect to all specific exploitation conditions and even the user's preferences and experience. In this paper a development of universal family of evaluation criteria as well as application of evaluation method for haul truck selection process for a specific exploitation conditions in surface mining have been carried out. The methodology presented in the paper is based on the principles of multiple criteria decision aiding (MCDA) using one of the ranking method, i.e. ELECTRE III. The applied methodology has been allowed for ranking of alternative solution (variants), on the considered set of haul trucks. The result of the research is a universal methodology, and it consequently may be applied in other surface mines with similar exploitation parametres.

Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

Czech Academy of Sciences Publication Activity Database

Vávrová, J.; Kemlink, D.; Šonka, K.; Havrdová, E.; Horáková, D.; Pardini, Barbara; Müller-Myhsok, B.; Winkelmann, J.

2012-01-01

Roč. 13, č. 7 (2012), s. 848-851 ISSN 1389-9457 R&D Projects: GA MZd NR8563 Grant - others:GA ČR(CZ) GD309/08/H079; GA MZd(CZ) NT12141 Institutional research plan: CEZ:AV0Z50390512 Keywords : Secondary restless legs syndrome * Multiple sclerosis * Genetic association study Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.487, year: 2012

Multiple Criteria Decision Analysis for Health Care Decision Making—An Introduction: Report 1 of the ISPOR MCDA Emerging Good Practices Task Force

NARCIS (Netherlands)

Thokala, Praveen; Devlin, Nancy; Marsh, Kevin; Baltussen, Rob; Boysen, Meindert; Kalo, Zoltan; Longrenn, Thomas; Mussen, Filip; Peacock, Stuart; Watkins, John; IJzerman, Maarten Joost

2016-01-01

Health care decisions are complex and involve confronting trade-offs between multiple, often conflicting, objectives. Using structured, explicit approaches to decisions involving multiple criteria can improve the quality of decision making and a set of techniques, known under the collective heading

Multiple criteria decision making of alternative fuels for waste collection vehicles in southeast region of Serbia

Directory of Open Access Journals (Sweden)

Petrović Goran S.

2016-01-01

Full Text Available In this paper multiple criteria decision making approach of alternative fuels for waste collection vehicles in southeast region of Serbia was presented. Eight alternative fuels and advanced vehicle technologies were ranked according to thirteen criteria, including financial, socio-technical, and environmental. Assessment of alternatives was performed by using the weighted aggregated sum product assessment method and results were verified using multi-objective optimization on the basis of ratio analysis method. Considered criteria were obtained from previous researches and by assessment of professional experts from manufacturing industries, public utility companies, and academics institutions. The analysis showed that both biodiesel fuels - derived from used cooking oil or from vegetable oils are the best alternative fuels for Serbian waste collection vehicles in this point of time. Compressed natural gas-powered vehicles were also ranked high in this analysis, but due to the lack of financial capability for their purchase (especially in southeast region of Serbia, their gradual introduction into the waste collection fleet was proposed.

Prediction of a multiple sclerosis diagnosis in patients with clinically isolated syndrome using the 2016 MAGNIMS and 2010 McDonald criteria

DEFF Research Database (Denmark)

Filippi, Massimo; Preziosa, Paolo; Meani, Alessandro

2018-01-01

of the distinction between symptomatic and asymptomatic lesions was suggested. We compared the performance of the 2010 McDonald and 2016 MAGNIMS criteria for multiple sclerosis diagnosis in a large multicentre cohort of patients with CIS to provide evidence to guide revisions of multiple sclerosis diagnostic......, 2017, 571 patients with CIS were screened, of whom 368 met all study inclusion criteria. At the last evaluation (median 50·0 months [IQR 27·0-78·4]), 189 (51%) of 368 patients developed clinically definite multiple sclerosis. At 36 months, the two DIS criteria showed high sensitivity (2010 McDonald 0......·32-0·50], and similar AUC (0·63 [0·57-0·68]). Inclusion of optic nerve evaluation resulted in similar sensitivity (0·92 [0·87-0·96]), and slightly lower specificity (0·26 [0·18-0·34]) and AUC (0·59 [0·55-0·64]). AUC values were also similar for DIT (2010 McDonald 0·61 [0·55-0·67] and 2016 MAGNIMS 0·61 [0...

Applying voting theory in natural resource management: a case of multiple-criteria group decision support.

Science.gov (United States)

Laukkanen, Sanna; Kangas, Annika; Kangas, Jyrki

2002-02-01

Voting theory has a lot in common with utility theory, and especially with group decision-making. An expected-utility-maximising strategy exists in voting situations, as well as in decision-making situations. Therefore, it is natural to utilise the achievements of voting theory also in group decision-making. Most voting systems are based on a single criterion or holistic preference information on decision alternatives. However, a voting scheme called multicriteria approval is specially developed for decision-making situations with multiple criteria. This study considers the voting theory from the group decision support point of view and compares it with some other methods applied to similar purposes in natural resource management. A case study is presented, where the approval voting approach is introduced to natural resources planning and tested in a forestry group decision-making process. Applying multicriteria approval method was found to be a potential approach for handling some challenges typical for forestry group decision support. These challenges include (i) utilising ordinal information in the evaluation of decision alternatives, (ii) being readily understandable for and treating equally all the stakeholders in possession of different levels of knowledge on the subject considered, (iii) fast and cheap acquisition of preference information from several stakeholders, and (iv) dealing with multiple criteria.

Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands

NARCIS (Netherlands)

van El, C.G.; Pieters, T.; Cornel, M.C.

2012-01-01

Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When

Diagnostic Criteria for Pediatric MS

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2013-06-01

Full Text Available Investigators at Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago review the diagnostic criteria for pediatric multiple sclerosis, the differential diagnosis, the 2010 McDonald criteria, and Callen criteria.

Behçet's disease patients with multiple sclerosis-like features: discriminative value of Barkhof criteria.

Science.gov (United States)

Akman-Demir, Gulsen; Mutlu, Melike; Kiyat-Atamer, Asli; Shugaiv, Erkingul; Kurtuncu, Murat; Tugal-Tutkun, Ilknur; Tuzun, Erdem; Eraksoy, Mefkure; Bahar, Sara

2015-01-01

Behçet's disease (BD) is a systemic auto-inflammatory disorder of unknown cause, which may affect the central nervous system in around 5% of the patients [neuro-BD (NBD)], usually causing large lesions encompassing brainstem, diencephalon and basal ganglia regions. Occasionally NBD patients present with white matter lesions necessitating differential diagnosis from multiple sclerosis (MS). In this study, the efficacy of Barkhof criteria was tested in diagnostic differentiation of NBD and MS. Charts and MRIs of 84 NBD patients were retrospectively evaluated. Clinical and radiological features of NBD patients fulfilling (Barkhof+) and not fulfilling Barkhof criteria (Barkhof-) were compared. While the Barkhof- patients (n=73) mostly displayed typical large lesions covering brainstem, diencephalon and basal ganglia regions and neurological findings consistent with brainstem involvement, all Barkhof+ (n=11) patients demonstrated MS-like white matter lesions, fulfilled McDonald's criteria and showed reduced frequency of brainstem symptoms and increased frequency of hemiparesis, hemihypesthesia and spinal cord symptoms. Moreover, the Barkhof+ group had more female patients, increased number of attacks, higher rate of oligoclonal band positivity and less patients with cerebrospinal fluid pleocytosis. A subgroup of BD patients with neurological complaints displays MS-like lesions, fulfills the clinical and radiological criteria of MS and presents with clinical and laboratory features resembling those of MS rather than NBD. These results suggest that Barkhof+ patients are either an overlapping group between NBD and MS, or they represent MS patients with concomitant systemic findings of BD, rather than NBD. Barkhof criteria appear to be effective in discriminating these patients.

Model selection with multiple regression on distance matrices leads to incorrect inferences.

Directory of Open Access Journals (Sweden)

Ryan P Franckowiak

Full Text Available In landscape genetics, model selection procedures based on Information Theoretic and Bayesian principles have been used with multiple regression on distance matrices (MRM to test the relationship between multiple vectors of pairwise genetic, geographic, and environmental distance. Using Monte Carlo simulations, we examined the ability of model selection criteria based on Akaike's information criterion (AIC, its small-sample correction (AICc, and the Bayesian information criterion (BIC to reliably rank candidate models when applied with MRM while varying the sample size. The results showed a serious problem: all three criteria exhibit a systematic bias toward selecting unnecessarily complex models containing spurious random variables and erroneously suggest a high level of support for the incorrectly ranked best model. These problems effectively increased with increasing sample size. The failure of AIC, AICc, and BIC was likely driven by the inflated sample size and different sum-of-squares partitioned by MRM, and the resulting effect on delta values. Based on these findings, we strongly discourage the continued application of AIC, AICc, and BIC for model selection with MRM.

MO-D-BRC-04: Multiple-Criteria Optimization Planning

International Nuclear Information System (INIS)

Donaghue, J.

2016-01-01

Treatment planning is a central part of radiation therapy, including delineation in tumor volumes and critical organs, setting treatment goals of prescription doses to the tumor targets and tolerance doses to the critical organs, and finally generation of treatment plans to meet the treatment goals. National groups like RTOG have led the effort to standardize treatment goals of the prescription doses to the tumor targets and tolerance doses to the critical organs based on accumulated knowledge from decades of abundant clinical trial experience. The challenge for each clinical department is how to achieve or surpass these set goals within the time constraints of clinical practice. Using fifteen testing cases from different treatment sites such as head and neck, prostate with and without pelvic lymph nodes, SBRT spine, we will present clinically utility of advanced planning tools, including knowledge based, automatic based, and multiple criteria based tools that are clinically implemented. The objectives of this session are: Understand differences among these three advanced planning tools Provide clinical assessments on the utility of the advanced planning tools Discuss clinical challenges of treatment planning with large variations in tumor volumes and their relationships with adjacent critical organs. Ping Xia received research grant from Philips. Jackie Wu received research grant from Varian; P. Xia, Research support by Philips and Varian; Q. Wu, NIH, Varian Medical

MO-D-BRC-04: Multiple-Criteria Optimization Planning

Energy Technology Data Exchange (ETDEWEB)

Donaghue, J. [Akron General Medical Center (United States)

2016-06-15

Treatment planning is a central part of radiation therapy, including delineation in tumor volumes and critical organs, setting treatment goals of prescription doses to the tumor targets and tolerance doses to the critical organs, and finally generation of treatment plans to meet the treatment goals. National groups like RTOG have led the effort to standardize treatment goals of the prescription doses to the tumor targets and tolerance doses to the critical organs based on accumulated knowledge from decades of abundant clinical trial experience. The challenge for each clinical department is how to achieve or surpass these set goals within the time constraints of clinical practice. Using fifteen testing cases from different treatment sites such as head and neck, prostate with and without pelvic lymph nodes, SBRT spine, we will present clinically utility of advanced planning tools, including knowledge based, automatic based, and multiple criteria based tools that are clinically implemented. The objectives of this session are: Understand differences among these three advanced planning tools Provide clinical assessments on the utility of the advanced planning tools Discuss clinical challenges of treatment planning with large variations in tumor volumes and their relationships with adjacent critical organs. Ping Xia received research grant from Philips. Jackie Wu received research grant from Varian; P. Xia, Research support by Philips and Varian; Q. Wu, NIH, Varian Medical.

Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.

Science.gov (United States)

Lima, Aline Dt; Alves, Vanessa R; Rocha, Andressa R; Martinhago, Ana C; Martinhago, Ciro; Donadio, Nilka; Dzik, Artur; Cavagna, Mario; Gebrim, Luiz H

2018-03-01

Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.

Life cycle based dynamic assessment coupled with multiple criteria decision analysis

DEFF Research Database (Denmark)

Sohn, Joshua; Kalbar, Pradip; Birkved, Morten

2017-01-01

the service life of the building. This case study uses both the established and the coupled MCDA assessment methods to quantify and assess the balance of impacts between the production of mineral wool insulation versus the production of space heat. The use of TOPSIS method for calculating single scores......This work looks at coupling Life cycle assessment (LCA) with a dynamic inventory and multiple criteria decision analysis (MCDA) to improve the validity and reliability of single score results for complex systems. This is done using the case study of a representative Danish single family home over...... not matter which impact assessment is applied. However, for the scenarios where other impact categories vary inversely or independently from the climate change impact indicator, such as with renewable energy production, there is need for a more unconventional method, such as the TOPSIS method...

Prediction of a multiple sclerosis diagnosis in patients with clinically isolated syndrome using the 2016 MAGNIMS and 2010 McDonald criteria: a retrospective study.

Science.gov (United States)

Filippi, Massimo; Preziosa, Paolo; Meani, Alessandro; Ciccarelli, Olga; Mesaros, Sarlota; Rovira, Alex; Frederiksen, Jette; Enzinger, Christian; Barkhof, Frederik; Gasperini, Claudio; Brownlee, Wallace; Drulovic, Jelena; Montalban, Xavier; Cramer, Stig P; Pichler, Alexander; Hagens, Marloes; Ruggieri, Serena; Martinelli, Vittorio; Miszkiel, Katherine; Tintorè, Mar; Comi, Giancarlo; Dekker, Iris; Uitdehaag, Bernard; Dujmovic-Basuroski, Irena; Rocca, Maria A

2018-02-01

In 2016, the Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) network proposed modifications to the MRI criteria to define dissemination in space (DIS) and time (DIT) for the diagnosis of multiple sclerosis in patients with clinically isolated syndrome (CIS). Changes to the DIS definition included removal of the distinction between symptomatic and asymptomatic lesions, increasing the number of lesions needed to define periventricular involvement to three, combining cortical and juxtacortical lesions, and inclusion of optic nerve evaluation. For DIT, removal of the distinction between symptomatic and asymptomatic lesions was suggested. We compared the performance of the 2010 McDonald and 2016 MAGNIMS criteria for multiple sclerosis diagnosis in a large multicentre cohort of patients with CIS to provide evidence to guide revisions of multiple sclerosis diagnostic criteria. Brain and spinal cord MRI and optic nerve assessments from patients with typical CIS suggestive of multiple sclerosis done less than 3 months from clinical onset in eight European multiple sclerosis centres were included in this retrospective study. Eligible patients were 16-60 years, and had a first CIS suggestive of CNS demyelination and typical of relapsing-remitting multiple sclerosis, a complete neurological examination, a baseline brain and spinal cord MRI scan obtained less than 3 months from clinical onset, and a follow-up brain scan obtained less than 12 months from CIS onset. We recorded occurrence of a second clinical attack (clinically definite multiple sclerosis) at months 36 and 60. We evaluated MRI criteria performance for DIS, DIT, and DIS plus DIT with a time-dependent receiver operating characteristic curve analysis. Between June 16, 1995, and Jan 27, 2017, 571 patients with CIS were screened, of whom 368 met all study inclusion criteria. At the last evaluation (median 50·0 months [IQR 27·0-78·4]), 189 (51%) of 368 patients developed clinically definite multiple

Multiple Criteria Decision Analysis for Health Care Decision Making—Emerging Good Practices: Report 2 of the ISPOR MCDA Emerging Good Practices Task Force

NARCIS (Netherlands)

Marsh, Kevin; IJzerman, Maarten Joost; Thokala, Praveen; Baltussen, Rob; Boysen, Meindert; Kalo, Zoltan; Longrenn, Thomas; Mussen, Filip; Peacock, Stuart; Watkins, John; Devlin, Nancy

2016-01-01

Health care decisions are complex and involve confronting trade-offs between multiple, often conflicting objectives. Using structured, explicit approaches to decisions involving multiple criteria can improve the quality of decision making. A set of techniques, known under the collective heading

Interobserver agreement on Poser's and the new McDonald's diagnostic criteria for multiple sclerosis.

Science.gov (United States)

Zipoli, V; Portaccio, E; Siracusa, G; Pracucci, G; Sorbi, S; Amato, M P

2003-10-01

We assessed the interobserver agreement on the diagnosis of multiple sclerosis (MS) in a study sample consisting of 41 MS (15 relapsing remitting, two secondary progressive, five primary progressive and 19 presenting their first clinical attack) and three non-MS cases. Clinical and paraclinical information was recorded in standardized forms. Four neurologists were asked to make a diagnosis using Poser's and McDonald's criteria and to assess MRI scans according to the McDonald's guidelines. In terms of the kappa statistic (kappa), we found a moderate agreement on the overall diagnosis using both Poser's and McDonald's criteria (kappa, respectively 0.57 and 0.52). As for distinct diagnostic categories, we observed a moderate to substantial agreement for the three McDonald categories (range of kappa values 0.49-0.64) and a fair to substantial agreement for the nine Poser categories (range of kappa values 0.37-0.67). Taking into account clinical information, the agreement on dissemination over time was substantially higher (kappa = 0.69) than that found on dissemination over space (kappa = 0.46). In contrast, for MRI assessment, the agreement for spatial dissemination was substantial (kappa = 0.74) compared with the fair agreement (kappa = 0.25) yielded by dissemination over time. The new McDonald's criteria yield a good overall diagnostic reliability, and compare favourably with Poser's classification in terms of agreement on distinct diagnostic categories.

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis

DEFF Research Database (Denmark)

Goris, An; Pauwels, Ine; Gustavsen, Marte W

2015-01-01

Immunological hallmarks of multiple sclerosis include the production of antibodies in the central nervous system, expressed as presence of oligoclonal bands and/or an increased immunoglobulin G index-the level of immunoglobulin G in the cerebrospinal fluid compared to serum. However, the underlying...... differences between oligoclonal band-positive and -negative patients with multiple sclerosis and reasons for variability in immunoglobulin G index are not known. To identify genetic factors influencing the variation in the antibody levels in the cerebrospinal fluid in multiple sclerosis, we have performed...... a genome-wide association screen in patients collected from nine countries for two traits, presence or absence of oligoclonal bands (n = 3026) and immunoglobulin G index levels (n = 938), followed by a replication in 3891 additional patients. We replicate previously suggested association signals...

Using multiple and specific criteria to assess the predictive validity of the Big Five personality factors on academic performance.

NARCIS (Netherlands)

Kappe, F.R.; van der Flier, H.

2010-01-01

Multiple and specific academic performance criteria were used to examine the predictive validity of the Big Five personality traits. One hundred thirty-three students in a college of higher learning in The Netherlands participated in a naturally occurring field study. The results of the NEO-FFI were

A Hybrid Genetic Algorithm for the Multiple Crossdocks Problem

Directory of Open Access Journals (Sweden)

Zhaowei Miao

2012-01-01

Full Text Available We study a multiple crossdocks problem with supplier and customer time windows, where any violation of time windows will incur a penalty cost and the flows through the crossdock are constrained by fixed transportation schedules and crossdock capacities. We prove this problem to be NP-hard in the strong sense and therefore focus on developing efficient heuristics. Based on the problem structure, we propose a hybrid genetic algorithm (HGA integrating greedy technique and variable neighborhood search method to solve the problem. Extensive experiments under different scenarios were conducted, and results show that HGA outperforms CPLEX solver, providing solutions in realistic timescales.

Low genetic diversity despite multiple introductions of the invasive plant species Impatiens glandulifera in Europe.

Science.gov (United States)

Hagenblad, Jenny; Hülskötter, Jennifer; Acharya, Kamal Prasad; Brunet, Jörg; Chabrerie, Olivier; Cousins, Sara A O; Dar, Pervaiz A; Diekmann, Martin; De Frenne, Pieter; Hermy, Martin; Jamoneau, Aurélien; Kolb, Annette; Lemke, Isgard; Plue, Jan; Reshi, Zafar A; Graae, Bente Jessen

2015-08-20

Invasive species can be a major threat to native biodiversity and the number of invasive plant species is increasing across the globe. Population genetic studies of invasive species can provide key insights into their invasion history and ensuing evolution, but also for their control. Here we genetically characterise populations of Impatiens glandulifera, an invasive plant in Europe that can have a major impact on native plant communities. We compared populations from the species' native range in Kashmir, India, to those in its invaded range, along a latitudinal gradient in Europe. For comparison, the results from 39 other studies of genetic diversity in invasive species were collated. Our results suggest that I. glandulifera was established in the wild in Europe at least twice, from an area outside of our Kashmir study area. Our results further revealed that the genetic diversity in invasive populations of I. glandulifera is unusually low compared to native populations, in particular when compared to other invasive species. Genetic drift rather than mutation seems to have played a role in differentiating populations in Europe. We find evidence of limitations to local gene flow after introduction to Europe, but somewhat less restrictions in the native range. I. glandulifera populations with significant inbreeding were only found in the species' native range and invasive species in general showed no increase in inbreeding upon leaving their native ranges. In Europe we detect cases of migration between distantly located populations. Human activities therefore seem to, at least partially, have facilitated not only introductions, but also further spread of I. glandulifera across Europe. Although multiple introductions will facilitate the retention of genetic diversity in invasive ranges, widespread invasive species can remain genetically relatively invariant also after multiple introductions. Phenotypic plasticity may therefore be an important component of the

Population genetics of the Eastern Hellbender (Cryptobranchus alleganiensis alleganiensis across multiple spatial scales.

Directory of Open Access Journals (Sweden)

Shem D Unger

Full Text Available Conservation genetics is a powerful tool to assess the population structure of species and provides a framework for informing management of freshwater ecosystems. As lotic habitats become fragmented, the need to assess gene flow for species of conservation management becomes a priority. The eastern hellbender (Cryptobranchus alleganiensis alleganiensis is a large, fully aquatic paedamorphic salamander. Many populations are experiencing declines throughout their geographic range, yet the genetic ramifications of these declines are currently unknown. To this end, we examined levels of genetic variation and genetic structure at both range-wide and drainage (hierarchical scales. We collected 1,203 individuals from 77 rivers throughout nine states from June 2007 to August 2011. Levels of genetic diversity were relatively high among all sampling locations. We detected significant genetic structure across populations (Fst values ranged from 0.001 between rivers within a single watershed to 0.218 between states. We identified two genetically differentiated groups at the range-wide scale: 1 the Ohio River drainage and 2 the Tennessee River drainage. An analysis of molecular variance (AMOVA based on landscape-scale sampling of basins within the Tennessee River drainage revealed the majority of genetic variation (∼94-98% occurs within rivers. Eastern hellbenders show a strong pattern of isolation by stream distance (IBSD at the drainage level. Understanding levels of genetic variation and differentiation at multiple spatial and biological scales will enable natural resource managers to make more informed decisions and plan effective conservation strategies for cryptic, lotic species.

A test sheet generating algorithm based on intelligent genetic algorithm and hierarchical planning

Science.gov (United States)

Gu, Peipei; Niu, Zhendong; Chen, Xuting; Chen, Wei

2013-03-01

In recent years, computer-based testing has become an effective method to evaluate students' overall learning progress so that appropriate guiding strategies can be recommended. Research has been done to develop intelligent test assembling systems which can automatically generate test sheets based on given parameters of test items. A good multisubject test sheet depends on not only the quality of the test items but also the construction of the sheet. Effective and efficient construction of test sheets according to multiple subjects and criteria is a challenging problem. In this paper, a multi-subject test sheet generation problem is formulated and a test sheet generating approach based on intelligent genetic algorithm and hierarchical planning (GAHP) is proposed to tackle this problem. The proposed approach utilizes hierarchical planning to simplify the multi-subject testing problem and adopts genetic algorithm to process the layered criteria, enabling the construction of good test sheets according to multiple test item requirements. Experiments are conducted and the results show that the proposed approach is capable of effectively generating multi-subject test sheets that meet specified requirements and achieve good performance.

A general framework for the evaluation of genetic association studies using multiple marginal models

DEFF Research Database (Denmark)

Kitsche, Andreas; Ritz, Christian; Hothorn, Ludwig A.

2016-01-01

OBJECTIVE: In this study, we present a simultaneous inference procedure as a unified analysis framework for genetic association studies. METHODS: The method is based on the formulation of multiple marginal models that reflect different modes of inheritance. The basic advantage of this methodology...

QSAR study of HCV NS5B polymerase inhibitors using the genetic algorithm-multiple linear regression (GA-MLR).

Science.gov (United States)

Rafiei, Hamid; Khanzadeh, Marziyeh; Mozaffari, Shahla; Bostanifar, Mohammad Hassan; Avval, Zhila Mohajeri; Aalizadeh, Reza; Pourbasheer, Eslam

2016-01-01

Quantitative structure-activity relationship (QSAR) study has been employed for predicting the inhibitory activities of the Hepatitis C virus (HCV) NS5B polymerase inhibitors . A data set consisted of 72 compounds was selected, and then different types of molecular descriptors were calculated. The whole data set was split into a training set (80 % of the dataset) and a test set (20 % of the dataset) using principle component analysis. The stepwise (SW) and the genetic algorithm (GA) techniques were used as variable selection tools. Multiple linear regression method was then used to linearly correlate the selected descriptors with inhibitory activities. Several validation technique including leave-one-out and leave-group-out cross-validation, Y-randomization method were used to evaluate the internal capability of the derived models. The external prediction ability of the derived models was further analyzed using modified r(2), concordance correlation coefficient values and Golbraikh and Tropsha acceptable model criteria's. Based on the derived results (GA-MLR), some new insights toward molecular structural requirements for obtaining better inhibitory activity were obtained.

Simplified response monitoring criteria for multiple myeloma in patients undergoing therapy with novel agents using computed tomography

Energy Technology Data Exchange (ETDEWEB)

Schabel, Christoph; Horger, Marius; Kum, Sara [Department of Diagnostic and Interventional Radiology, Eberhard-Karls-University Tuebingen, Hoppe-Seyler-Str. 3, 72076 Tuebingen (Germany); Weisel, Katja [Department of Internal Medicine II – Hematology & Oncology, Eberhard-Karls-University Tuebingen, Otfried-Müller-Str. 5, 72076 Tuebingen (Germany); Fritz, Jan [Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, 600 N Wolfe St., Baltimore, MD 21287 (United States); Ioanoviciu, Sorin D. [Department of Internal Medicine, Clinical Municipal Hospital Timisoara, Gheorghe Dima Str. 5, 300079 Timisoara (Romania); Bier, Georg, E-mail: georg.bier@med.uni-tuebingen.de [Department of Neuroradiology, Eberhard-Karls-University Tuebingen, Hoppe-Seyler-Str. 3, 72076 Tuebingen (Germany)

2016-12-15

Highlights: • A simplified method for response monitoring of multiple myeloma is proposed. • Medullary bone lesions of all limbs were included and analysed. • Diameters of ≥2 medullary bone lesions are sufficient for therapy monitoring. - Abstract: Introduction: Multiple myeloma is a malignant hematological disorder of the mature B-cell lymphocytes originating in the bone marrow. While therapy monitoring is still mainly based on laboratory biomarkers, the additional use of imaging has been advocated due to inaccuracies of serological biomarkers or in a-secretory myelomas. Non-enhanced CT and MRI have similar sensitivities for lesions in yellow marrow-rich bone marrow cavities with a favourable risk and cost-effectiveness profile of CT. Nevertheless, these methods are still limited by frequently high numbers of medullary lesions and its time consumption for proper evaluation. Objective: To establish simplified response criteria by correlating size and CT attenuation changes of medullary multiple myeloma lesions in the appendicular skeleton with the course of lytic bone lesions in the entire skeleton. Furthermore to evaluate these criteria with respect to established hematological myeloma-specific parameters for the prediction of treatment response to bortezomib or lenalidomide. Materials and methods: Non-enhanced reduced-dose whole-body CT examinations of 78 consecutive patients (43 male, 35 female, mean age 63.69 ± 9.2 years) with stage III multiple myeloma were retrospectively re-evaluated. On per patient basis, size and mean CT attenuation of 2–4 representative lesions in the limbs were measured at baseline and at a follow-up after a mean of 8 months. Results were compared with the course of lytical bone lesions as well with that of specific hematological biomarkers. Myeloma response was assessed according to the International Myeloma Working Group (IMWG) uniform response criteria. Testing for correlation between response of medullary lesions (Resp

IMPORTANCE OF MULTIPLE CRITERIA FOR PRIORITY SETTING OF HIV/AIDS INTERVENTIONS.

Science.gov (United States)

Tromp, Noor; Prawiranegara, Rozar; Siregar, Adiatma; Sunjaya, Deni; Baltussen, Rob

2015-01-01

This study describes the views of various stakeholders on the importance of different criteria for priority setting of HIV/AIDS interventions in Indonesia. Based on a general list of criteria and a focus group discussion with stakeholders (n = 6), a list was developed of thirty-two criteria that play a role in priority setting in HIV/AIDS control in West-Java province. Criteria were categorized according to the World Health Organization's health system goals and building block frameworks. People living with HIV/AIDS (n = 49), healthcare workers (HCW) (n = 41), the general population (n = 43), and policy makers (n = 22) rated the importance of thirty-two criteria on a 5-point Likert-scale. Thereafter, respondents ranked the highest rated criteria to express more detailed preferences. Stakeholders valued the following criteria as most important for the priority setting of HIV/AIDS interventions: an intervention's impact on the HIV/AIDS epidemic, reduction of stigma, quality of care, effectiveness on individual level, and feasibility in terms of current capacity of the health system (i.e., HCW, product, information, and service requirements), financial sustainability, and acceptance by donors. Overall, stakeholders' preferences for the importance of criteria are similar. Our study design outlines an approach for other settings to identify which criteria are important for priority setting of health interventions. For Indonesia, these study results may be used in priority setting processes for HIV/AIDS control and may contribute to more transparent and systematic allocation of resources.

Estimation in a multiplicative mixed model involving a genetic relationship matrix

Directory of Open Access Journals (Sweden)

Eccleston John A

2009-04-01

Full Text Available Abstract Genetic models partitioning additive and non-additive genetic effects for populations tested in replicated multi-environment trials (METs in a plant breeding program have recently been presented in the literature. For these data, the variance model involves the direct product of a large numerator relationship matrix A, and a complex structure for the genotype by environment interaction effects, generally of a factor analytic (FA form. With MET data, we expect a high correlation in genotype rankings between environments, leading to non-positive definite covariance matrices. Estimation methods for reduced rank models have been derived for the FA formulation with independent genotypes, and we employ these estimation methods for the more complex case involving the numerator relationship matrix. We examine the performance of differing genetic models for MET data with an embedded pedigree structure, and consider the magnitude of the non-additive variance. The capacity of existing software packages to fit these complex models is largely due to the use of the sparse matrix methodology and the average information algorithm. Here, we present an extension to the standard formulation necessary for estimation with a factor analytic structure across multiple environments.

Dual Criteria Decisions

DEFF Research Database (Denmark)

Andersen, Steffen; Harrison, Glenn W.; Lau, Morten Igel

2014-01-01

The most popular models of decision making use a single criterion to evaluate projects or lotteries. However, decision makers may actually consider multiple criteria when evaluating projects. We consider a dual criteria model from psychology. This model integrates the familiar tradeoffs between...... to the clear role that income thresholds play in such decision making, but does not rule out a role for tradeoffs between risk and utility or probability weighting....

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.

Science.gov (United States)

Goris, An; Pauwels, Ine; Gustavsen, Marte W; van Son, Brechtje; Hilven, Kelly; Bos, Steffan D; Celius, Elisabeth Gulowsen; Berg-Hansen, Pål; Aarseth, Jan; Myhr, Kjell-Morten; D'Alfonso, Sandra; Barizzone, Nadia; Leone, Maurizio A; Martinelli Boneschi, Filippo; Sorosina, Melissa; Liberatore, Giuseppe; Kockum, Ingrid; Olsson, Tomas; Hillert, Jan; Alfredsson, Lars; Bedri, Sahl Khalid; Hemmer, Bernhard; Buck, Dorothea; Berthele, Achim; Knier, Benjamin; Biberacher, Viola; van Pesch, Vincent; Sindic, Christian; Bang Oturai, Annette; Søndergaard, Helle Bach; Sellebjerg, Finn; Jensen, Poul Erik H; Comabella, Manuel; Montalban, Xavier; Pérez-Boza, Jennifer; Malhotra, Sunny; Lechner-Scott, Jeannette; Broadley, Simon; Slee, Mark; Taylor, Bruce; Kermode, Allan G; Gourraud, Pierre-Antoine; Sawcer, Stephen J; Andreassen, Bettina Kullle; Dubois, Bénédicte; Harbo, Hanne F

2015-03-01

Immunological hallmarks of multiple sclerosis include the production of antibodies in the central nervous system, expressed as presence of oligoclonal bands and/or an increased immunoglobulin G index-the level of immunoglobulin G in the cerebrospinal fluid compared to serum. However, the underlying differences between oligoclonal band-positive and -negative patients with multiple sclerosis and reasons for variability in immunoglobulin G index are not known. To identify genetic factors influencing the variation in the antibody levels in the cerebrospinal fluid in multiple sclerosis, we have performed a genome-wide association screen in patients collected from nine countries for two traits, presence or absence of oligoclonal bands (n = 3026) and immunoglobulin G index levels (n = 938), followed by a replication in 3891 additional patients. We replicate previously suggested association signals for oligoclonal band status in the major histocompatibility complex region for the rs9271640*A-rs6457617*G haplotype, correlated with HLA-DRB1*1501, and rs34083746*G, correlated with HLA-DQA1*0301 (P comparing two haplotypes = 8.88 × 10(-16)). Furthermore, we identify a novel association signal of rs9807334, near the ELAC1/SMAD4 genes, for oligoclonal band status (P = 8.45 × 10(-7)). The previously reported association of the immunoglobulin heavy chain locus with immunoglobulin G index reaches strong evidence for association in this data set (P = 3.79 × 10(-37)). We identify two novel associations in the major histocompatibility complex region with immunoglobulin G index: the rs9271640*A-rs6457617*G haplotype (P = 1.59 × 10(-22)), shared with oligoclonal band status, and an additional independent effect of rs6457617*G (P = 3.68 × 10(-6)). Variants identified in this study account for up to 2-fold differences in the odds of being oligoclonal band positive and 7.75% of the variation in immunoglobulin G index. Both traits are associated with clinical features of disease such

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis

Science.gov (United States)

Pauwels, Ine; Gustavsen, Marte W.; van Son, Brechtje; Hilven, Kelly; Bos, Steffan D.; Celius, Elisabeth Gulowsen; Berg-Hansen, Pål; Aarseth, Jan; Myhr, Kjell-Morten; D’Alfonso, Sandra; Barizzone, Nadia; Leone, Maurizio A.; Martinelli Boneschi, Filippo; Sorosina, Melissa; Liberatore, Giuseppe; Kockum, Ingrid; Olsson, Tomas; Hillert, Jan; Alfredsson, Lars; Bedri, Sahl Khalid; Hemmer, Bernhard; Buck, Dorothea; Berthele, Achim; Knier, Benjamin; Biberacher, Viola; van Pesch, Vincent; Sindic, Christian; Bang Oturai, Annette; Søndergaard, Helle Bach; Sellebjerg, Finn; Jensen, Poul Erik H.; Comabella, Manuel; Montalban, Xavier; Pérez-Boza, Jennifer; Malhotra, Sunny; Lechner-Scott, Jeannette; Broadley, Simon; Slee, Mark; Taylor, Bruce; Kermode, Allan G.; Gourraud, Pierre-Antoine; Sawcer, Stephen J.; Andreassen, Bettina Kullle; Dubois, Bénédicte; Harbo, Hanne F.

2015-01-01

Immunological hallmarks of multiple sclerosis include the production of antibodies in the central nervous system, expressed as presence of oligoclonal bands and/or an increased immunoglobulin G index—the level of immunoglobulin G in the cerebrospinal fluid compared to serum. However, the underlying differences between oligoclonal band-positive and -negative patients with multiple sclerosis and reasons for variability in immunoglobulin G index are not known. To identify genetic factors influencing the variation in the antibody levels in the cerebrospinal fluid in multiple sclerosis, we have performed a genome-wide association screen in patients collected from nine countries for two traits, presence or absence of oligoclonal bands (n = 3026) and immunoglobulin G index levels (n = 938), followed by a replication in 3891 additional patients. We replicate previously suggested association signals for oligoclonal band status in the major histocompatibility complex region for the rs9271640*A-rs6457617*G haplotype, correlated with HLA-DRB1*1501, and rs34083746*G, correlated with HLA-DQA1*0301 (P comparing two haplotypes = 8.88 × 10−16). Furthermore, we identify a novel association signal of rs9807334, near the ELAC1/SMAD4 genes, for oligoclonal band status (P = 8.45 × 10−7). The previously reported association of the immunoglobulin heavy chain locus with immunoglobulin G index reaches strong evidence for association in this data set (P = 3.79 × 10−37). We identify two novel associations in the major histocompatibility complex region with immunoglobulin G index: the rs9271640*A-rs6457617*G haplotype (P = 1.59 × 10−22), shared with oligoclonal band status, and an additional independent effect of rs6457617*G (P = 3.68 × 10−6). Variants identified in this study account for up to 2-fold differences in the odds of being oligoclonal band positive and 7.75% of the variation in immunoglobulin G index. Both traits are associated with clinical features of disease such

Managing uncertainty in multiple-criteria decision making related to sustainability assessment

DEFF Research Database (Denmark)

Dorini, Gianluca Fabio; Kapelan, Zoran; Azapagic, Adisa

2011-01-01

In real life, decisions are usually made by comparing different options with respect to several, often conflicting criteria. This requires subjective judgements on the importance of different criteria by DMs and increases uncertainty in decision making. This article demonstrates how uncertainty can......: (1) no uncertainty, (2) uncertainty in data/models and (3) uncertainty in models and decision-makers’ preferences. The results shows how characterising and propagating uncertainty can help increase the effectiveness of multi-criteria decision making processes and lead to more informed decision....... be handled in multi-criteria decision situations using Compromise Programming, one of the Multi-criteria Decision Analysis (MCDA) techniques. Uncertainty is characterised using a probabilistic approach and propagated using a Monte Carlo simulation technique. The methodological approach is illustrated...

Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism.

Science.gov (United States)

Card, Daren C; Schield, Drew R; Adams, Richard H; Corbin, Andrew B; Perry, Blair W; Andrew, Audra L; Pasquesi, Giulia I M; Smith, Eric N; Jezkova, Tereza; Boback, Scott M; Booth, Warren; Castoe, Todd A

2016-09-01

Boa is a Neotropical genus of snakes historically recognized as monotypic despite its expansive distribution. The distinct morphological traits and color patterns exhibited by these snakes, together with the wide diversity of ecosystems they inhabit, collectively suggest that the genus may represent multiple species. Morphological variation within Boa also includes instances of dwarfism observed in multiple offshore island populations. Despite this substantial diversity, the systematics of the genus Boa has received little attention until very recently. In this study we examined the genetic structure and phylogenetic relationships of Boa populations using mitochondrial sequences and genome-wide SNP data obtained from RADseq. We analyzed these data at multiple geographic scales using a combination of phylogenetic inference (including coalescent-based species delimitation) and population genetic analyses. We identified extensive population structure across the range of the genus Boa and multiple lines of evidence for three widely-distributed clades roughly corresponding with the three primary land masses of the Western Hemisphere. We also find both mitochondrial and nuclear support for independent origins and parallel evolution of dwarfism on offshore island clusters in Belize and Cayos Cochinos Menor, Honduras. Copyright © 2016 Elsevier Inc. All rights reserved.

Analysis of the genetic variation in Mycobacterium tuberculosis strains by multiple genome alignments

Directory of Open Access Journals (Sweden)

Morales Juan

2008-11-01

Full Text Available Abstract Background The recent determination of the complete nucleotide sequence of several Mycobacterium tuberculosis (MTB genomes allows the use of comparative genomics as a tool for dissecting the nature and consequence of genetic variability within this species. The multiple alignment of the genomes of clinical strains (CDC1551, F11, Haarlem and C, along with the genomes of laboratory strains (H37Rv and H37Ra, provides new insights on the mechanisms of adaptation of this bacterium to the human host. Findings The genetic variation found in six M. tuberculosis strains does not involve significant genomic rearrangements. Most of the variation results from deletion and transposition events preferentially associated with insertion sequences and genes of the PE/PPE family but not with genes implicated in virulence. Using a Perl-based software islandsanalyser, which creates a representation of the genetic variation in the genome, we identified differences in the patterns of distribution and frequency of the polymorphisms across the genome. The identification of genes displaying strain-specific polymorphisms and the extrapolation of the number of strain-specific polymorphisms to an unlimited number of genomes indicates that the different strains contain a limited number of unique polymorphisms. Conclusion The comparison of multiple genomes demonstrates that the M. tuberculosis genome is currently undergoing an active process of gene decay, analogous to the adaptation process of obligate bacterial symbionts. This observation opens new perspectives into the evolution and the understanding of the pathogenesis of this bacterium.

Genetic susceptibility factors for multiple chemical sensitivity revisited

DEFF Research Database (Denmark)

Berg, Nikolaj Drimer; Rasmussen, Henrik Berg; Linneberg, Allan

2010-01-01

of this study was to investigate genetic susceptibility factors for MCS and self-reported chemical sensitivity in a population sample. Ninety six MCS patients and 1,207 controls from a general population divided into four severity groups of chemical sensitivity were genotyped for variants in the genes encoding......Multiple chemical sensitivity (MCS) is characterised by adverse effects due to exposure to low levels of chemical substances. Various genes, especially genes of importance to the metabolism of xenobiotic compounds, have been associated with MCS, but findings are inconsistent. The purpose...... significant (OR=1.2, p=0.28). Fast arylamine N-acetyltransferase 2 metaboliser status was associated with severity of chemical sensitivity only in the most severely affected group in the population sample (OR=3.1, p=0.04). The cholecystokinin 2 receptor allele with 21 CT repeats was associated with MCS when...

Exact criteria for uniqueness and multiplicity of an nth order chemical reaction via catastrophe theory approach. [Determines boundaries between unique and multiple steady state conditions

Energy Technology Data Exchange (ETDEWEB)

Chang, H C; Calo, J M

1979-01-01

A simple, generalized technique for the exact determination of the boundaries between regions of unique and of multiple solutions to certain nonlinear equations was developed by applying catastrophe theory to the mapping of implicit and explicit functions. Its application to an nth order reaction in continuous stirred tank reactor (CSTR) yields exact, explicit expressions for the boundaries between regions of single and multiple steady states, expressed in terms of the dimensionless heat transfer coefficient and activation energy. An exact implicit expression for the boundaries between regions of uniqueness and multiplicity was also derived for an nth order reaction in a catalyst particle with an intraparticle concentration gradient and uniform temperature and is fully demonstrated for the first-order reaction. In addition, explicit criteria were developed by assuming the limits on d ln g/d ln q, where g is the effectiveness factor and q the Thiele modulus, proposed by van den Bosch and Luss.

A Juridical Insight of Brave New World: The Eugenics Found on the Selection Criteria of Genetic Material for the Assisted Human Reproduction

Directory of Open Access Journals (Sweden)

Carlos Eduardo de Oliveira Alban

2016-06-01

Full Text Available Following the teachings of the “Law in the Literature” movement, as well as the method of the Phemenological Hermeneutics, the present essay intends to discuss the eugenics content present in the abstract criteria for donating genetic material in Brazil. In order to present this problem clearly for the reader, the novel Brave New World, from Aldous Huxley, will be used as an example. Opportunely, it will deal with the recent situation regarding the investigation of the London Sperm Bank donators’ politics, in which important debates related to the genetic selection aiming for avoiding congenital diseases appear.

A multivariate twin study of the DSM-IV criteria for antisocial personality disorder.

Science.gov (United States)

Kendler, Kenneth S; Aggen, Steven H; Patrick, Christopher J

2012-02-01

Many assessment instruments for psychopathy are multidimensional, suggesting that distinguishable factors are needed to effectively capture variation in this personality domain. However, no prior study has examined the factor structure of the DSM-IV criteria for antisocial personality disorder (ASPD). Self-report questionnaire items reflecting all A criteria for DSM-IV ASPD were available from 4291 twins (including both members of 1647 pairs) from the Virginia Adult Study of Psychiatric and Substance Use Disorders. Exploratory factor analysis and twin model fitting were performed using, respectively, Mplus and Mx. Phenotypic factor analysis produced evidence for two correlated factors: aggressive-disregard and disinhibition. The best-fitting multivariate twin model included two genetic and one unique environmental common factor, along with criteria-specific genetic and environmental effects. The two genetic factors closely resembled the phenotypic factors and varied in their prediction of a range of relevant criterion variables. Scores on the genetic aggressive-disregard factor score were more strongly associated with risk for conduct disorder, early and heavy alcohol use, and low educational status, whereas scores on the genetic disinhibition factor score were more strongly associated with younger age, novelty seeking, and major depression. From a genetic perspective, the DSM-IV criteria for ASPD do not reflect a single dimension of liability but rather are influenced by two dimensions of genetic risk reflecting aggressive-disregard and disinhibition. The phenotypic structure of the ASPD criteria results largely from genetic and not from environmental influences. Copyright © 2012 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Multiple cost criteria for occupational dose reduction

International Nuclear Information System (INIS)

James, J.Z.

1983-01-01

This paper describes a simple, feasible procedure for deciding if a proposed dose reduction measure is justified under ALARA, based on engineering economic principles of project feasibility analysis. Particular attention is given to the fixing of cost criteria: the importance of melding disparate objectives into a single parameter, and the distinction between a cost criterion and a cost consideration. (author)

Developmental cognitive genetics: How psychology can inform genetics and vice versa

Science.gov (United States)

Bishop, Dorothy V. M.

2006-01-01

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination. PMID:16769616

Grouping genetic algorithms advances and applications

CERN Document Server

Mutingi, Michael

2017-01-01

This book presents advances and innovations in grouping genetic algorithms, enriched with new and unique heuristic optimization techniques. These algorithms are specially designed for solving industrial grouping problems where system entities are to be partitioned or clustered into efficient groups according to a set of guiding decision criteria. Examples of such problems are: vehicle routing problems, team formation problems, timetabling problems, assembly line balancing, group maintenance planning, modular design, and task assignment. A wide range of industrial grouping problems, drawn from diverse fields such as logistics, supply chain management, project management, manufacturing systems, engineering design and healthcare, are presented. Typical complex industrial grouping problems, with multiple decision criteria and constraints, are clearly described using illustrative diagrams and formulations. The problems are mapped into a common group structure that can conveniently be used as an input scheme to spe...

Cisplatin resistance: a cellular self-defense mechanism resulting from multiple epigenetic and genetic changes.

Science.gov (United States)

Shen, Ding-Wu; Pouliot, Lynn M; Hall, Matthew D; Gottesman, Michael M

2012-07-01

Cisplatin is one of the most effective broad-spectrum anticancer drugs. Its effectiveness seems to be due to the unique properties of cisplatin, which enters cells via multiple pathways and forms multiple different DNA-platinum adducts while initiating a cellular self-defense system by activating or silencing a variety of different genes, resulting in dramatic epigenetic and/or genetic alternations. As a result, the development of cisplatin resistance in human cancer cells in vivo and in vitro by necessity stems from bewilderingly complex genetic and epigenetic changes in gene expression and alterations in protein localization. Extensive published evidence has demonstrated that pleiotropic alterations are frequently detected during development of resistance to this toxic metal compound. Changes occur in almost every mechanism supporting cell survival, including cell growth-promoting pathways, apoptosis, developmental pathways, DNA damage repair, and endocytosis. In general, dozens of genes are affected in cisplatin-resistant cells, including pathways involved in copper metabolism as well as transcription pathways that alter the cytoskeleton, change cell surface presentation of proteins, and regulate epithelial-to-mesenchymal transition. Decreased accumulation is one of the most common features resulting in cisplatin resistance. This seems to be a consequence of numerous epigenetic and genetic changes leading to the loss of cell-surface binding sites and/or transporters for cisplatin, and decreased fluid phase endocytosis.

An information theory criteria based blind method for enumerating active users in DS-CDMA system

Science.gov (United States)

Samsami Khodadad, Farid; Abed Hodtani, Ghosheh

2014-11-01

In this paper, a new and blind algorithm for active user enumeration in asynchronous direct sequence code division multiple access (DS-CDMA) in multipath channel scenario is proposed. The proposed method is based on information theory criteria. There are two main categories of information criteria which are widely used in active user enumeration, Akaike Information Criterion (AIC) and Minimum Description Length (MDL) information theory criteria. The main difference between these two criteria is their penalty functions. Due to this difference, MDL is a consistent enumerator which has better performance in higher signal-to-noise ratios (SNR) but AIC is preferred in lower SNRs. In sequel, we propose a SNR compliance method based on subspace and training genetic algorithm to have the performance of both of them. Moreover, our method uses only a single antenna, in difference to the previous methods which decrease hardware complexity. Simulation results show that the proposed method is capable of estimating the number of active users without any prior knowledge and the efficiency of the method.

The genetics of multiple sclerosis: review of current and emerging candidates

Science.gov (United States)

Muñoz-Culla, Maider; Irizar, Haritz; Otaegui, David

2013-01-01

Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. PMID:24019748

Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis.

Science.gov (United States)

Vercellino, Marco; Fenoglio, Chiara; Galimberti, Daniela; Mattioda, Alessandra; Chiavazza, Carlotta; Binello, Eleonora; Pinessi, Lorenzo; Giobbe, Dario; Scarpini, Elio; Cavalla, Paola

2016-07-01

Progranulin (GRN) is a multifunctional protein involved in inflammation and repair, and also a neurotrophic factor critical for neuronal survival. Progranulin is strongly expressed in multiple sclerosis (MS) brains by macrophages and microglia. In this study we evaluated GRN genetic variability in 400 MS patients, in correlation with clinical variables such as disease severity and relapse recovery. We also evaluated serum progranulin levels in the different groups of GRN variants carriers. We found that incomplete recovery after a relapse is correlated with an increased frequency of the rs9897526 A allele (odds ratio (OR) 4.367, p = 0.005). A more severe disease course (Multiple Sclerosis Severity Score > 5) is correlated with an increased frequency of the rs9897526 A allele (OR 1.886, p = 0.002) and of the rs5848 T allele (OR 1.580, p = 0.019). Carriers of the variants associated with a more severe disease course (rs9897526 A, rs5848 T) have significantly lower levels of circulating progranulin (80.5 ± 9.1 ng/mL vs. 165.7 ng/mL, p = 0.01). GRN genetic polymorphisms likely influence disease course and relapse recovery in MS. © The Author(s), 2015.

Application of risk-based multiple criteria decision analysis for selection of the best agricultural scenario for effective watershed management.

Science.gov (United States)

Javidi Sabbaghian, Reza; Zarghami, Mahdi; Nejadhashemi, A Pouyan; Sharifi, Mohammad Bagher; Herman, Matthew R; Daneshvar, Fariborz

2016-03-01

Effective watershed management requires the evaluation of agricultural best management practice (BMP) scenarios which carefully consider the relevant environmental, economic, and social criteria involved. In the Multiple Criteria Decision-Making (MCDM) process, scenarios are first evaluated and then ranked to determine the most desirable outcome for the particular watershed. The main challenge of this process is the accurate identification of the best solution for the watershed in question, despite the various risk attitudes presented by the associated decision-makers (DMs). This paper introduces a novel approach for implementation of the MCDM process based on a comparative neutral risk/risk-based decision analysis, which results in the selection of the most desirable scenario for use in the entire watershed. At the sub-basin level, each scenario includes multiple BMPs with scores that have been calculated using the criteria derived from two cases of neutral risk and risk-based decision-making. The simple additive weighting (SAW) operator is applied for use in neutral risk decision-making, while the ordered weighted averaging (OWA) and induced OWA (IOWA) operators are effective for risk-based decision-making. At the watershed level, the BMP scores of the sub-basins are aggregated to calculate each scenarios' combined goodness measurements; the most desirable scenario for the entire watershed is then selected based on the combined goodness measurements. Our final results illustrate the type of operator and risk attitudes needed to satisfy the relevant criteria within the number of sub-basins, and how they ultimately affect the final ranking of the given scenarios. The methodology proposed here has been successfully applied to the Honeyoey Creek-Pine Creek watershed in Michigan, USA to evaluate various BMP scenarios and determine the best solution for both the stakeholders and the overall stream health. Copyright © 2015 Elsevier Ltd. All rights reserved.

Genetic classes and genetic categories : Protecting genetic groups through data protection law

NARCIS (Netherlands)

Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

2017-01-01

Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

Five criteria for using a surrogate endpoint to predict treatment effect based on data from multiple previous trials.

Science.gov (United States)

Baker, Stuart G

2018-02-20

A surrogate endpoint in a randomized clinical trial is an endpoint that occurs after randomization and before the true, clinically meaningful, endpoint that yields conclusions about the effect of treatment on true endpoint. A surrogate endpoint can accelerate the evaluation of new treatments but at the risk of misleading conclusions. Therefore, criteria are needed for deciding whether to use a surrogate endpoint in a new trial. For the meta-analytic setting of multiple previous trials, each with the same pair of surrogate and true endpoints, this article formulates 5 criteria for using a surrogate endpoint in a new trial to predict the effect of treatment on the true endpoint in the new trial. The first 2 criteria, which are easily computed from a zero-intercept linear random effects model, involve statistical considerations: an acceptable sample size multiplier and an acceptable prediction separation score. The remaining 3 criteria involve clinical and biological considerations: similarity of biological mechanisms of treatments between the new trial and previous trials, similarity of secondary treatments following the surrogate endpoint between the new trial and previous trials, and a negligible risk of harmful side effects arising after the observation of the surrogate endpoint in the new trial. These 5 criteria constitute an appropriately high bar for using a surrogate endpoint to make a definitive treatment recommendation. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

Multi-criteria optimization of dryers: use of neural networks and genetical algorithms; Optimisation multi-criteres de sechoirs: utilisation des reseaux de neurones et algorithmes genetiques

Energy Technology Data Exchange (ETDEWEB)

Hugget, A.; Nadeau, J.P.; Sabastian, P. [Ecole Nationale Superieure des Arts et Metiers, 33 - Talence (France)

1997-12-31

Drying remains a complex process to model and thus to optimize. In this paper a new approach is proposed which allows to perform a compression in the drying model in order to integrate it using neural networks. The simulation times become very small and allow to test a great number of configurations. This decisive advantage allows to perform a multi-criteria optimization using hybrid genetical algorithms based on technical-economical criteria like drying cost, production or final product quality. (J.S.) 10 refs.

Barrier potential design criteria in multiple-quantum-well-based solar-cell structures

Science.gov (United States)

Mohaidat, Jihad M.; Shum, Kai; Wang, W. B.; Alfano, R. R.

1994-01-01

The barrier potential design criteria in multiple-quantum-well (MQW)-based solar-cell structures is reported for the purpose of achieving maximum efficiency. The time-dependent short-circuit current density at the collector side of various MQW solar-cell structures under resonant condition was numerically calculated using the time-dependent Schroedinger equation. The energy efficiency of solar cells based on the InAs/Ga(y)In(1-y)As and GaAs/Al(x)Ga(1-x)As MQW structues were compared when carriers are excited at a particular solar-energy band. Using InAs/Ga(y)In(1-y)As MQW structures it is found that a maximum energy efficiency can be achieved if the structure is designed with barrier potential of about 450 meV. The efficiency is found to decline linearly as the barrier potential increases for GaAs/Al(x)Ga(1-x)As MQW-structure-based solar cells.

3D shape optimization of fan vanes for multiple operating regimes subject to efficiency and noise-related excellence criteria and constraints

Directory of Open Access Journals (Sweden)

Ivo Marinić-Kragić

2016-01-01

Full Text Available Fully generic 3D shapes of centrifugal roof fan vanes are explored based on a custom-developed numerical workflow with the ability to vary the vane 3D shape by manipulating the control points of parametric surfaces and change the number of vanes and rotation speed. An excellence formulation is based on design flow efficiency, multi-regime operational conditions and noise criteria for various cases, including multi-objective optimization. Multiple cases of optimization demonstrate the suitability of customized and individualized fan designs for specific working environments according to the selected excellence criteria. Noise analysis is considered as an additional decision-making tool for cases where multiple solutions of equal efficiency are generated and as an additional criteria for multi-objective optimization. The 3D vane shape enables further gains in efficiency compared to 2D shape optimization, while multi-objective optimization with noise as an additional criterion shows potential to greatly reduce the roof fan noise with only small losses in efficiency. The developed workflow which comprises (i a 3D parametric shape modeler, (ii an evolutionary optimizer and (iii a computational fluid dynamics (CFD simulator can be viewed as an integral tool for optimizing the designs of roof fans under custom conditions.

An intelligent, knowledge-based multiple criteria decision making advisor for systems design

Science.gov (United States)

Li, Yongchang

In systems engineering, design and operation of systems are two main problems which always attract researcher's attentions. The accomplishment of activities in these problems often requires proper decisions to be made so that the desired goal can be achieved, thus, decision making needs to be carefully fulfilled in the design and operation of systems. Design is a decision making process which permeates through out the design process, and is at the core of all design activities. In modern aircraft design, more and more attention is paid to the conceptual and preliminary design phases so as to increase the odds of choosing a design that will ultimately be successful at the completion of the design process, therefore, decisions made during these early design stages play a critical role in determining the success of a design. Since aerospace systems are complex systems with interacting disciplines and technologies, the Decision Makers (DMs) dealing with such design problems are involved in balancing the multiple, potentially conflicting attributes/criteria, transforming a large amount of customer supplied guidelines into a solidly defined set of requirement definitions. Thus, one could state with confidence that modern aerospace system design is a Multiple Criteria Decision Making (MCDM) process. A variety of existing decision making methods are available to deal with this type of decision problems. The selection of the most appropriate decision making method is of particular importance since inappropriate decision methods are likely causes of misleading engineering design decisions. With no sufficient knowledge about each of the methods, it is usually difficult for the DMs to find an appropriate analytical model capable of solving their problems. In addition, with the complexity of the decision problem and the demand for more capable methods increasing, new decision making methods are emerging with time. These various methods exacerbate the difficulty of the selection

Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles

DEFF Research Database (Denmark)

Mero, Inger-Lise; Gustavsen, Marte W; Sæther, Hanne S

2013-01-01

The presence of oligoclonal bands (OCB) in cerebrospinal fluid (CSF) is a typical finding in multiple sclerosis (MS). We applied data from Norwegian, Swedish and Danish (i.e. Scandinavian) MS patients from a genome-wide association study (GWAS) to search for genetic differences in MS relating...

Multiplicative interaction of functional inflammasome genetic variants in determining the risk of gout.

Science.gov (United States)

McKinney, Cushla; Stamp, Lisa K; Dalbeth, Nicola; Topless, Ruth K; Day, Richard O; Kannangara, Diluk Rw; Williams, Kenneth M; Janssen, Matthijs; Jansen, Timothy L; Joosten, Leo A; Radstake, Timothy R; Riches, Philip L; Tausche, Anne-Kathrin; Lioté, Frederic; So, Alexander; Merriman, Tony R

2015-10-13

The acute gout flare results from a localised self-limiting innate immune response to monosodium urate (MSU) crystals deposited in joints in hyperuricaemic individuals. Activation of the caspase recruitment domain-containing protein 8 (CARD8) NOD-like receptor pyrin-containing 3 (NLRP3) inflammasome by MSU crystals and production of mature interleukin-1β (IL-1β) is central to acute gouty arthritis. However very little is known about genetic control of the innate immune response involved in acute gouty arthritis. Therefore our aim was to test functional single nucleotide polymorphism (SNP) variants in the toll-like receptor (TLR)-inflammasome-IL-1β axis for association with gout. 1,494 gout cases of European and 863 gout cases of New Zealand (NZ) Polynesian (Māori and Pacific Island) ancestry were included. Gout was diagnosed by the 1977 ARA gout classification criteria. There were 1,030 Polynesian controls and 10,942 European controls including from the publicly-available Atherosclerosis Risk in Communities (ARIC) and Framingham Heart (FHS) studies. The ten SNPs were either genotyped by Sequenom MassArray or by Affymetrix SNP array or imputed in the ARIC and FHS datasets. Allelic association was done by logistic regression adjusting by age and sex with European and Polynesian data combined by meta-analysis. Sample sets were pooled for multiplicative interaction analysis, which was also adjusted by sample set. Eleven SNPs were tested in the TLR2, CD14, IL1B, CARD8, NLRP3, MYD88, P2RX7, DAPK1 and TNXIP genes. Nominally significant (P gout were detected at CARD8 rs2043211 (OR = 1.12, P = 0.007), IL1B rs1143623 (OR = 1.10, P = 0.020) and CD14 rs2569190 (OR = 1.08; P = 0.036). There was significant multiplicative interaction between CARD8 and IL1B (P = 0.005), with the IL1B risk genotype amplifying the risk effect of CARD8. There is evidence for association of gout with functional variants in CARD8, IL1B and CD14. The gout-associated allele of IL1B increases

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.

Genetic and infectious profiles of Japanese multiple sclerosis patients.

Directory of Open Access Journals (Sweden)

Satoshi Yoshimura

Full Text Available BACKGROUND: Nationwide surveys conducted in Japan over the past thirty years have revealed a four-fold increase in the estimated number of multiple sclerosis (MS patients, a decrease in the age at onset, and successive increases in patients with conventional MS, which shows an involvement of multiple sites in the central nervous system, including the cerebrum and cerebellum. We aimed to clarify whether genetic and infectious backgrounds correlate to distinct disease phenotypes of MS in Japanese patients. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed HLA-DRB1 and -DPB1 alleles, and IgG antibodies specific for Helicobacter pylori, Chlamydia pneumoniae, varicella zoster virus, and Epstein-Barr virus nuclear antigen (EBNA in 145 MS patients and 367 healthy controls (HCs. Frequencies of DRB1*0405 and DPB1*0301 were significantly higher, and DRB1*0901 and DPB1*0401 significantly lower, in MS patients as compared with HCs. MS patients with DRB1*0405 had a significantly earlier age of onset and lower Progression Index than patients without this allele. The proportion and absolute number of patients with DRB1*0405 successively increased with advancing year of birth. In MS patients without DRB1*0405, the frequency of the DRB1*1501 allele was significantly higher, while the DRB1*0901 allele was significantly lower, compared with HCs. Furthermore, DRB1*0405-negative MS patients were significantly more likely to be positive for EBNA antibodies compared with HCs. CONCLUSIONS: Our study suggests that MS patients harboring DRB1*0405, a genetic risk factor for MS in the Japanese population, have a younger age at onset and a relatively benign disease course, while DRB1*0405-negative MS patients have features similar to Western-type MS in terms of association with Epstein-Barr virus infection and DRB1*1501. The recent increase of MS in young Japanese people may be caused, in part, by an increase in DRB1*0405-positive MS patients.

Multivariate analysis and determination of the best indirect selection criteria to genetic improvement the biological nitrogen fixation ability in common bean genotypes (Phaseolus vulgaris L.

Directory of Open Access Journals (Sweden)

Golparvar Reza Ahmad

2012-01-01

Full Text Available In order to determine the best indirect selection criteria for genetic improvement of biological nitrogen fixation, sixty four common bean genotypes were cultivated in two randomized complete block design. Genotypes were inoculated with bacteria Rhizobium legominosarum biovar Phaseoli isolate L-109 only in one of the experiments. The second experiment was considered as check for the first. Correlation analysis showed positive and highly significant correlation of majority of the traits with percent of nitrogen fixation. Step-wise regression designated that traits percent of total nitrogen of shoot, number of nodule per plant and biological yield accounted for 92.3 percent of variation exist in percent of nitrogen fixation. Path analysis indicated that these traits have direct and positive effect on percent of nitrogen fixation. Hence, these traits are promising indirect selection criteria for genetic improvement of nitrogen fixation capability in common bean genotypes especially in early generations.

Genetics Home Reference: multiple sclerosis

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... closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

Genetic analysis of the isolated Faroe Islands reveals SORCS3 as a potential multiple sclerosis risk gene

DEFF Research Database (Denmark)

Binzer, Stefanie; Stenager, Egon; Binzer, Michael

2016-01-01

BACKGROUND: In search of the missing heritability in multiple sclerosis (MS), additional approaches adding to the genetic discoveries of large genome-wide association studies are warranted. OBJECTIVE: The objective of this research paper is to search for rare genetic MS risk variants...... in the genetically homogenous population of the isolated Faroe Islands. METHODS: Twenty-nine Faroese MS cases and 28 controls were genotyped with the HumanOmniExpressExome-chip. The individuals make up 1596 pair-combinations in which we searched for identical-by-descent shared segments using the PLINK...... of neurotrophin factors and involvement in glutamate homeostasis. Although additional work is needed to scrutinise the genetic effect of the SORCS3-covering haplotype, this study suggests that SORCS3 may also be important in MS pathogenesis....

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

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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.

Image interpretation criteria for FDG PET/CT in multiple myeloma: a new proposal from an Italian expert panel. IMPeTUs (Italian Myeloma criteria for PET USe)

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Nanni, Cristina; Rambaldi, Ilaria; Fanti, Stefano [AOU Policlinico S. Orsola-Malpighi, Nuclear Medicine, Bologna (Italy); Zamagni, Elena; Cavo, Michele [AOU Policlinico S. Orsola-Malpighi, Hematology, Bologna (Italy); Versari, Annibale [IRCSS, Nuclear Medicine, S. Maria Nuova Hospital, Reggio Emilia (Italy); Chauvie, Stephane [Santa Croce e Carle Hospital, Medical Physics Unit, Cuneo (Italy); Bianchi, Andrea [Santa Croce e Carle Hospital, Nuclear Medicine, Cuneo (Italy); Rensi, Marco [AOU S.Maria della Misericordia, Nuclear Medicine, Udine (Italy); Bello, Marilena [AO Citta della Salute e della Scienza, Nuclear Medicine, Torino (Italy); Gallamini, Andrea [A Lacassagne Cancer Center, Research and Innovation Department, Nice (France); Patriarca, Francesca [Udine University, Hematologic Clinic, Udine (Italy); Gay, Francesca [University of Torino, Myeloma Unit, Division of Hematology, Torino (Italy); Gamberi, Barbara [IRCCS, Hematology Unit, Azienda Ospedaliera ASMN, Reggio Emilia (Italy)

2016-03-15

FDG PET/CT is able to detect active disease in patients with multiple myeloma (MM) and can be helpful for staging and assessing therapy response, but no standard interpretation criteria have been proposed for the evaluation of FDG PET/CT in MM. A group of Italian nuclear medicine physicians and haematologists met to propose new visual interpretation criteria to standardize FDG PET/CT evaluation in MM patients (Italian Myeloma criteria for PET USe; IMPeTUs) and the reproducibility of these criteria was tested. This Italian multicentre protocol was set up as a subprotocol of EMN02, an international prospective multicentre trial of the European Myeloma Network. The criteria were agreed at multidisciplinary consensus meetings. They include a description of the metabolic state of the bone marrow (BM), number and site of focal PET-positive lesions, the number of osteolytic lesions, and the presence and site of extramedullary disease, paramedullary disease and fractures. A visual degree of uptake was defined for the target lesion and extramedullary lesions according to modified Deauville criteria. MM patients who had undergone FDG PET/CT at baseline (PET-0), after induction (PET-AI) and at the end of treatment (PET-EoT) were enrolled. The patients had been prospectively enrolled in EMN02 and their PET scans were a posteriori reinterpreted in a blinded independent central review process managed by WIDEN registered. Five expert nuclear medicine physicians scored the scans according to the new criteria. A case was considered read when four out of the five reviewers completed the report. Concordance among reviewers on different metrics was calculated using Krippendorff's alpha coefficient. A total of 17 consecutive patients were enrolled. On PET-0, the alpha coefficients for the BM score, the score for the hottest focal lesion, the number of focal lesions and the number of lytic lesions were 0.33 and 0.47, 0.40 and 0.32, respectively. On PET-AI, the alpha coefficients

Image interpretation criteria for FDG PET/CT in multiple myeloma: a new proposal from an Italian expert panel. IMPeTUs (Italian Myeloma criteria for PET USe)

International Nuclear Information System (INIS)

Nanni, Cristina; Rambaldi, Ilaria; Fanti, Stefano; Zamagni, Elena; Cavo, Michele; Versari, Annibale; Chauvie, Stephane; Bianchi, Andrea; Rensi, Marco; Bello, Marilena; Gallamini, Andrea; Patriarca, Francesca; Gay, Francesca; Gamberi, Barbara

2016-01-01

FDG PET/CT is able to detect active disease in patients with multiple myeloma (MM) and can be helpful for staging and assessing therapy response, but no standard interpretation criteria have been proposed for the evaluation of FDG PET/CT in MM. A group of Italian nuclear medicine physicians and haematologists met to propose new visual interpretation criteria to standardize FDG PET/CT evaluation in MM patients (Italian Myeloma criteria for PET USe; IMPeTUs) and the reproducibility of these criteria was tested. This Italian multicentre protocol was set up as a subprotocol of EMN02, an international prospective multicentre trial of the European Myeloma Network. The criteria were agreed at multidisciplinary consensus meetings. They include a description of the metabolic state of the bone marrow (BM), number and site of focal PET-positive lesions, the number of osteolytic lesions, and the presence and site of extramedullary disease, paramedullary disease and fractures. A visual degree of uptake was defined for the target lesion and extramedullary lesions according to modified Deauville criteria. MM patients who had undergone FDG PET/CT at baseline (PET-0), after induction (PET-AI) and at the end of treatment (PET-EoT) were enrolled. The patients had been prospectively enrolled in EMN02 and their PET scans were a posteriori reinterpreted in a blinded independent central review process managed by WIDEN registered. Five expert nuclear medicine physicians scored the scans according to the new criteria. A case was considered read when four out of the five reviewers completed the report. Concordance among reviewers on different metrics was calculated using Krippendorff's alpha coefficient. A total of 17 consecutive patients were enrolled. On PET-0, the alpha coefficients for the BM score, the score for the hottest focal lesion, the number of focal lesions and the number of lytic lesions were 0.33 and 0.47, 0.40 and 0.32, respectively. On PET-AI, the alpha coefficients

Solving the Problem of Multiple-Criteria Building Design Decisions with respect to the Fire Safety of Occupants: An Approach Based on Probabilistic Modelling

Directory of Open Access Journals (Sweden)

Egidijus Rytas Vaidogas

2015-01-01

Full Text Available The design of buildings may include a comparison of alternative architectural and structural solutions. They can be developed at different levels of design process. The alternative design solutions are compared and ranked by applying methods of multiple-criteria decision-making (MCDM. Each design is characterised by a number of criteria used in a MCDM problem. The paper discusses how to choose MCDM criteria expressing fire safety related to alternative designs. Probability of a successful evacuation of occupants from a building fire and difference between evacuation time and time to untenable conditions are suggested as the most important criteria related to fire safety. These two criteria are treated as uncertain quantities expressed by probability distributions. Monte Carlo simulation of fire and evacuation processes is natural means for an estimation of these distributions. The presence of uncertain criteria requires applying stochastic MCDM methods for ranking alternative designs. An application of the safety-related criteria is illustrated by an example which analyses three alternative architectural floor plans prepared for a reconstruction of a medical building. A MCDM method based on stochastic simulation is used to solve the example problem.

Criteria for authorship in bioethics.

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Resnik, David B; Master, Zubin

2011-10-01

Multiple authorship is becoming increasingly common in bioethics research. There are well-established criteria for authorship in empirical bioethics research but not for conceptual research. It is important to develop criteria for authorship in conceptual publications to prevent undeserved authorship and uphold standards of fairness and accountability. This article explores the issue of multiple authorship in bioethics and develops criteria for determining who should be an author on a conceptual publication in bioethics. Authorship in conceptual research should be based on contributing substantially to: (1) identifying a topic, problem, or issue to study; (2) reviewing and interpreting the relevant literature; (3) formulating, analyzing, and evaluating arguments that support one or more theses; (4) responding to objections and counterarguments; and (5) drafting the manuscript. Authors of conceptual publications should participate substantially in at least two of areas (1)-(5) and also approve the final version. [corrected].

The relation between multilocus population genetics and social evolution theory.

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Gardner, Andy; West, Stuart A; Barton, Nicholas H

2007-02-01

Evolution at multiple gene positions is complicated. Direct selection on one gene disturbs the evolutionary dynamics of associated genes. Recent years have seen the development of a multilocus methodology for modeling evolution at arbitrary numbers of gene positions with arbitrary dominance and epistatic relations, mode of inheritance, genetic linkage, and recombination. We show that the approach is conceptually analogous to social evolutionary methodology, which focuses on selection acting on associated individuals. In doing so, we (1) make explicit the links between the multilocus methodology and the foundations of social evolution theory, namely, Price's theorem and Hamilton's rule; (2) relate the multilocus approach to levels-of-selection and neighbor-modulated-fitness approaches in social evolution; (3) highlight the equivalence between genetical hitchhiking and kin selection; (4) demonstrate that the multilocus methodology allows for social evolutionary analyses involving coevolution of multiple traits and genetical associations between nonrelatives, including individuals of different species; (5) show that this methodology helps solve problems of dynamic sufficiency in social evolution theory; (6) form links between invasion criteria in multilocus systems and Hamilton's rule of kin selection; (7) illustrate the generality and exactness of Hamilton's rule, which has previously been described as an approximate, heuristic result.

Development and amplification of multiple co-dominant genetic markers from single spores of arbuscular mycorrhizal fungi by nested multiplex PCR

DEFF Research Database (Denmark)

Holtgrewe-Stukenbrock, Eva; Rosendahl, Søren

2005-01-01

Multiple co-dominant genetic markers from single spores of the arbuscular mycorrhizal (AM) fungi Glomus mosseae, Glomus caledonium, and Glomus geosporum were amplified by nested multiplex PCR using a combination of primers for simultaneous amplification of five loci in one PCR. Subsequently, each...... marker was amplified separately in nested PCR using specific primers. Polymorphic loci within the three putative single copy genes GmFOX2, GmTOR2, and GmGIN1 were characterized by sequencing and single strand conformation polymorphisms (SSCP). Primers specific for the LSU rDNA D2 region were included...... are homokaryotic. All isolates of G. mosseae had unique genotypes. The amplification of multiple co-dominant genetic markers from single spores by the nested multiplex PCR approach provides an important tool for future studies of AM fungi population genetics and evolution....

[Genetics factors in pathogenesis and clinical genetics of binge eating disorder].

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Kibitov, А О; Мazo, G E

2016-01-01

Genetic studies have shown that binge eating disorder (ВЕD) aggregates in families, heritability was estimated as about 60% and additive genetic influences on BED up to 50%. Using a genetic approach has proved useful for verifying the diagnostic categories of BED using DSM-IV criteria and supporting the validity of considering this pathology as a separate nosological category. The results confirmed the genetic and pathogenic originality of BED as a separate psychopathological phenomenon, but not a subtype of obesity. It seems fruitful to considerate BED as a disease with hereditary predisposition with significant genetic influence and a complex psychopathological syndrome, including not only eating disorders, but also depressive and addictive component. A possible mechanism of pathogenesis of BED may be the interaction of the neuroendocrine and neurotransmitters systems including the active involvement of the reward system in response to a variety of chronic stress influences with the important modulatory role of specific personality traits. The high level of genetic influence on the certain clinical manifestations of BED confirms the ability to identify the subphenotypes of BED on genetic basis involving clinical criteria. It can not only contribute to further genetic studies, taking into account more homogeneous samples, but also help in finding differentiated therapeutic approaches.

MRI criteria for the diagnosis of multiple sclerosis

DEFF Research Database (Denmark)

Filippi, Massimo; Rocca, Maria A; Ciccarelli, Olga

2016-01-01

the value of spinal cord imaging. Since the last update of these criteria, new data on the use of MRI to establish dissemination in space and time have become available, and MRI technology has improved. State-of-the-art MRI findings in these patients were discussed in a MAGNIMS workshop, the goal of which...

Multiple exostotic hypochondroplasia: Syndrome of combined hypochondroplasia and multiple exostoses

International Nuclear Information System (INIS)

Dominguez, R.; Young, L.W.; Girdany, B.R.; Steele, M.W.

1984-01-01

This is a report of a family with major focus on the daughter who had short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochrondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed. (orig.)

Multiple exostotic hypochondroplasia: Syndrome of combined hypochondroplasia and multiple exostoses

Energy Technology Data Exchange (ETDEWEB)

Dominguez, R.; Young, L.W.; Girdany, B.R.; Steele, M.W.

1984-07-01

This is a report of a family with major focus on the daughter who had short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochrondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed.

Carney complex review: Genetic features.

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Bosco Schamun, María Belén; Correa, Ricardo; Graffigna, Patricia; de Miguel, Valeria; Fainstein Day, Patricia

2018-01-01

Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex. Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.

Volatile terpenoids: multiple functions, biosynthesis, modulation and manipulation by genetic engineering.

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Abbas, Farhat; Ke, Yanguo; Yu, Rangcai; Yue, Yuechong; Amanullah, Sikandar; Jahangir, Muhammad Muzammil; Fan, Yanping

2017-11-01

Terpenoids play several physiological and ecological functions in plant life through direct and indirect plant defenses and also in human society because of their enormous applications in the pharmaceutical, food and cosmetics industries. Through the aid of genetic engineering its role can by magnified to broad spectrum by improving genetic ability of crop plants, enhancing the aroma quality of fruits and flowers and the production of pharmaceutical terpenoids contents in medicinal plants. Terpenoids are structurally diverse and the most abundant plant secondary metabolites, playing an important role in plant life through direct and indirect plant defenses, by attracting pollinators and through different interactions between the plants and their environment. Terpenoids are also significant because of their enormous applications in the pharmaceutical, food and cosmetics industries. Due to their broad distribution and functional versatility, efforts are being made to decode the biosynthetic pathways and comprehend the regulatory mechanisms of terpenoids. This review summarizes the recent advances in biosynthetic pathways, including the spatiotemporal, transcriptional and post-transcriptional regulatory mechanisms. Moreover, we discuss the multiple functions of the terpene synthase genes (TPS), their interaction with the surrounding environment and the use of genetic engineering for terpenoid production in model plants. Here, we also provide an overview of the significance of terpenoid metabolic engineering in crop protection, plant reproduction and plant metabolic engineering approaches for pharmaceutical terpenoids production and future scenarios in agriculture, which call for sustainable production platforms by improving different plant traits.

A major and stable QTL associated with seed weight in soybean across multiple environments and genetic backgrounds.

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Kato, Shin; Sayama, Takashi; Fujii, Kenichiro; Yumoto, Setsuzo; Kono, Yuhi; Hwang, Tae-Young; Kikuchi, Akio; Takada, Yoshitake; Tanaka, Yu; Shiraiwa, Tatsuhiko; Ishimoto, Masao

2014-06-01

We detected a QTL for single seed weight in soybean that was stable across multiple environments and genetic backgrounds with the use of two recombinant inbred line populations. Single seed weight (SSW) in soybean is a key determinant of both seed yield and the quality of soy food products, and it exhibits wide variation. SSW is under genetic control, but the molecular mechanisms of such control remain unclear. We have now investigated quantitative trait loci (QTLs) for SSW in soybean and have identified such a QTL that is stable across multiple environments and genetic backgrounds. Two populations of 225 and 250 recombinant inbred lines were developed from crosses between Japanese and US cultivars of soybean that differ in SSW by a factor of ~2, and these populations were grown in at least three different environments. A whole-genome panel comprising 304 simple sequence repeat (SSR) loci was applied to mapping in each population. We identified 15 significant QTLs for SSW dispersed among 11 chromosomes in the two populations. One QTL located between Sat_284 and Sat_292 on chromosome 17 was detected (3.6 soybean.

Genetic evidence of multiple loci in dystocia - difficult labour

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Westgren Magnus

2010-06-01

Full Text Available Abstract Background Dystocia, difficult labour, is a common but also complex problem during childbirth. It can be attributed to either weak contractions of the uterus, a large infant, reduced capacity of the pelvis or combinations of these. Previous studies have indicated that there is a genetic component in the susceptibility of experiencing dystocia. The purpose of this study was to identify susceptibility genes in dystocia. Methods A total of 104 women in 47 families were included where at least two sisters had undergone caesarean section at a gestational length of 286 days or more at their first delivery. Study of medical records and a telephone interview was performed to identify subjects with dystocia. Whole-genome scanning using Affymetrix genotyping-arrays and non-parametric linkage (NPL analysis was made in 39 women exhibiting the phenotype of dystocia from 19 families. In 68 women re-sequencing was performed of candidate genes showing suggestive linkage: oxytocin (OXT on chromosome 20 and oxytocin-receptor (OXTR on chromosome 3. Results We found a trend towards linkage with suggestive NPL-score (3.15 on chromosome 12p12. Suggestive linkage peaks were observed on chromosomes 3, 4, 6, 10, 20. Re-sequencing of OXT and OXTR did not reveal any causal variants. Conclusions Dystocia is likely to have a genetic component with variations in multiple genes affecting the patient outcome. We found 6 loci that could be re-evaluated in larger patient cohorts.

Genetic evidence of multiple loci in dystocia - difficult labour

Science.gov (United States)

2010-01-01

Background Dystocia, difficult labour, is a common but also complex problem during childbirth. It can be attributed to either weak contractions of the uterus, a large infant, reduced capacity of the pelvis or combinations of these. Previous studies have indicated that there is a genetic component in the susceptibility of experiencing dystocia. The purpose of this study was to identify susceptibility genes in dystocia. Methods A total of 104 women in 47 families were included where at least two sisters had undergone caesarean section at a gestational length of 286 days or more at their first delivery. Study of medical records and a telephone interview was performed to identify subjects with dystocia. Whole-genome scanning using Affymetrix genotyping-arrays and non-parametric linkage (NPL) analysis was made in 39 women exhibiting the phenotype of dystocia from 19 families. In 68 women re-sequencing was performed of candidate genes showing suggestive linkage: oxytocin (OXT) on chromosome 20 and oxytocin-receptor (OXTR) on chromosome 3. Results We found a trend towards linkage with suggestive NPL-score (3.15) on chromosome 12p12. Suggestive linkage peaks were observed on chromosomes 3, 4, 6, 10, 20. Re-sequencing of OXT and OXTR did not reveal any causal variants. Conclusions Dystocia is likely to have a genetic component with variations in multiple genes affecting the patient outcome. We found 6 loci that could be re-evaluated in larger patient cohorts. PMID:20587075

Multiple sclerosis - etiology and diagnostic potential.

Science.gov (United States)

Kamińska, Joanna; Koper, Olga M; Piechal, Kinga; Kemona, Halina

2017-06-30

Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS) damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS), secondary progressive multiple sclerosis (SPSM), primary progressive multiple sclerosis (PPMS), and progressive-relapsing multiple sclerosis (RPMS). Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald's diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of different diagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

Multiple sclerosis - etiology and diagnostic potential

Directory of Open Access Journals (Sweden)

Joanna Kamińska

2017-06-01

Full Text Available Multiple sclerosis (MS is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS, secondary progressive multiple sclerosis (SPSM, primary progressive multiple sclerosis (PPMS, and progressive-relapsing multiple sclerosis (RPMS. Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald’s diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI, cerebrospinal fluid (CSF analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of differentdiagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

Multi-criteria decision making with overlapping criteria

Directory of Open Access Journals (Sweden)

Mohammed Shahid Abdulla

2012-09-01

Full Text Available The evidential reasoning (ER algorithm for multi-criteria decision making (MCDM performs aggregation of the assessments of multiple experts, one each for every attribute (or subsystem or criterion of a given system. Two variants of ER are proposed, that handle a scenario where more than one expert assesses an attribute. The first algorithm handles the case of multiple experts who assess an attribute of a larger system. Experiments compare a modification of ER for this scenario which results in poorer detection. The second algorithm is used when experts have overlapping areas of expertise among the subsystems. A comparison is made with a variant of ER in the literature. Both algorithms are examples of novel ‘exclusive’ and ‘inclusive’ ER.

Core neuropathological abnormalities in progranulin-deficient mice are penetrant on multiple genetic backgrounds.

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Petkau, T L; Hill, A; Leavitt, B R

2016-02-19

Loss-of-function mutations in the progranulin gene (GRN) are a common cause of familial frontotemporal lobar degeneration (FTLD). A high degree of heterogeneity in the age-of-onset, duration of disease, and clinical presentation of FTLD, even among families carrying the same GRN mutation, suggests that additional modifying genes may be important to pathogenesis. Progranulin-knockout mice display subtle behavioral abnormalities and progressive neuropathological changes, as well as altered dendritic morphology and synaptic deficits in the hippocampus. In this study we evaluated multiple neuropathological endpoints in aged progranulin knockout mice and their wild-type littermates on two different genetic backgrounds: C57Bl/6 and 129/SvImJ. We find that in most brain regions, both strains are susceptible to progranulin-mediated neuropathological phenotypes, including astrogliosis, microgliosis, and highly accelerated deposition of the aging pigment lipofuscin. Neuroinflammation due to progranulin deficiency is exaggerated in the B6 strain and present, but less pronounced, in the 129 strain. Differences between the strains in hippocampal neuron counts and neuronal morphology suggest a complex role for progranulin in the hippocampus. We conclude that core progranulin-mediated neurodegenerative phenotypes are penetrant on multiple inbred mouse strains, but that genetic background modulates progranulin's role in neuroinflammation and hippocampal biology. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

Multiple Criteria Decision Analysis for Health Care Decision Making--Emerging Good Practices: Report 2 of the ISPOR MCDA Emerging Good Practices Task Force.

Science.gov (United States)

Marsh, Kevin; IJzerman, Maarten; Thokala, Praveen; Baltussen, Rob; Boysen, Meindert; Kaló, Zoltán; Lönngren, Thomas; Mussen, Filip; Peacock, Stuart; Watkins, John; Devlin, Nancy

2016-01-01

Health care decisions are complex and involve confronting trade-offs between multiple, often conflicting objectives. Using structured, explicit approaches to decisions involving multiple criteria can improve the quality of decision making. A set of techniques, known under the collective heading, multiple criteria decision analysis (MCDA), are useful for this purpose. In 2014, ISPOR established an Emerging Good Practices Task Force. The task force's first report defined MCDA, provided examples of its use in health care, described the key steps, and provided an overview of the principal methods of MCDA. This second task force report provides emerging good-practice guidance on the implementation of MCDA to support health care decisions. The report includes: a checklist to support the design, implementation and review of an MCDA; guidance to support the implementation of the checklist; the order in which the steps should be implemented; illustrates how to incorporate budget constraints into an MCDA; provides an overview of the skills and resources, including available software, required to implement MCDA; and future research directions. Copyright © 2016 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Multiple Criteria Decision Analysis for Health Care Decision Making--An Introduction: Report 1 of the ISPOR MCDA Emerging Good Practices Task Force.

Science.gov (United States)

Thokala, Praveen; Devlin, Nancy; Marsh, Kevin; Baltussen, Rob; Boysen, Meindert; Kalo, Zoltan; Longrenn, Thomas; Mussen, Filip; Peacock, Stuart; Watkins, John; Ijzerman, Maarten

2016-01-01

Health care decisions are complex and involve confronting trade-offs between multiple, often conflicting, objectives. Using structured, explicit approaches to decisions involving multiple criteria can improve the quality of decision making and a set of techniques, known under the collective heading multiple criteria decision analysis (MCDA), are useful for this purpose. MCDA methods are widely used in other sectors, and recently there has been an increase in health care applications. In 2014, ISPOR established an MCDA Emerging Good Practices Task Force. It was charged with establishing a common definition for MCDA in health care decision making and developing good practice guidelines for conducting MCDA to aid health care decision making. This initial ISPOR MCDA task force report provides an introduction to MCDA - it defines MCDA; provides examples of its use in different kinds of decision making in health care (including benefit risk analysis, health technology assessment, resource allocation, portfolio decision analysis, shared patient clinician decision making and prioritizing patients' access to services); provides an overview of the principal methods of MCDA; and describes the key steps involved. Upon reviewing this report, readers should have a solid overview of MCDA methods and their potential for supporting health care decision making. Copyright © 2016. Published by Elsevier Inc.

Multiple Criteria Decision Analysis (MCDA) for evaluating new medicines in Health Technology Assessment and beyond: The Advance Value Framework.

Science.gov (United States)

Angelis, Aris; Kanavos, Panos

2017-09-01

Escalating drug prices have catalysed the generation of numerous "value frameworks" with the aim of informing payers, clinicians and patients on the assessment and appraisal process of new medicines for the purpose of coverage and treatment selection decisions. Although this is an important step towards a more inclusive Value Based Assessment (VBA) approach, aspects of these frameworks are based on weak methodologies and could potentially result in misleading recommendations or decisions. In this paper, a Multiple Criteria Decision Analysis (MCDA) methodological process, based on Multi Attribute Value Theory (MAVT), is adopted for building a multi-criteria evaluation model. A five-stage model-building process is followed, using a top-down "value-focused thinking" approach, involving literature reviews and expert consultations. A generic value tree is structured capturing decision-makers' concerns for assessing the value of new medicines in the context of Health Technology Assessment (HTA) and in alignment with decision theory. The resulting value tree (Advance Value Tree) consists of three levels of criteria (top level criteria clusters, mid-level criteria, bottom level sub-criteria or attributes) relating to five key domains that can be explicitly measured and assessed: (a) burden of disease, (b) therapeutic impact, (c) safety profile (d) innovation level and (e) socioeconomic impact. A number of MAVT modelling techniques are introduced for operationalising (i.e. estimating) the model, for scoring the alternative treatment options, assigning relative weights of importance to the criteria, and combining scores and weights. Overall, the combination of these MCDA modelling techniques for the elicitation and construction of value preferences across the generic value tree provides a new value framework (Advance Value Framework) enabling the comprehensive measurement of value in a structured and transparent way. Given its flexibility to meet diverse requirements and

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

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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.

Directional genetic selection by pulp mill effluent on multiple natural populations of three-spined stickleback (Gasterosteus aculeatus).

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Lind, Emma E; Grahn, Mats

2011-05-01

Contamination can cause a rapid environmental change which may require populations to respond with evolutionary changes. To evaluate the effects of pulp mill effluents on population genetics, we sampled three-spined sticklebacks (Gasterosteus aculeatus) near four pulp mills and four adjacent reference sites and analyzed Amplified Fragment Length Polymorphism (AFLP) to compare genetic variability. A fine scale genetic structure was detected and samples from polluted sites separated from reference sites in multidimensional scaling plots (Pselection. When removing 13 F(ST)-outlier loci, significant at the Pselective agent on natural populations of G. aculeatus, causing a convergence in genotype composition change at multiple sites in an open environment. © The Author(s) 2011. This article is published with open access at Springerlink.com

Determination of optimal pollution levels through multiple-criteria decision making: an application to the Spanish electricity sector

International Nuclear Information System (INIS)

Linares, P.

1999-01-01

An efficient pollution management requires the harmonisation of often conflicting economic and environmental aspects. A compromise has to be found, in which social welfare is maximised. The determination of this social optimum has been attempted with different tools, of which the most correct according to neo-classical economics may be the one based on the economic valuation of the externalities of pollution. However, this approach is still controversial, and few decision makers trust the results obtained enough to apply them. But a very powerful alternative exists, which avoids the problem of monetizing physical impacts. Multiple-criteria decision making provides methodologies for dealing with impacts in different units, and for incorporating the preferences of decision makers or society as a whole, thus allowing for the determination of social optima under heterogeneous criteria, which is usually the case of pollution management decisions. In this paper, a compromise programming model is presented for the determination of the optimal pollution levels for the electricity industry in Spain for carbon dioxide, sulphur dioxide, nitrous oxides, and radioactive waste. The preferences of several sectors of society are incorporated explicitly into the model, so that the solution obtained represents the optimal pollution level from a social point of view. Results show that cost minimisation is still the main objective for society, but the simultaneous consideration of the rest of the criteria achieves large pollution reductions at a low cost increment. (Author)

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

Science.gov (United States)

Mulard, Hervé; Danchin, E.; Talbot, S.L.; Ramey, A.M.; Hatch, Shyla A.; White, J.F.; Helfenstein, F.; Wagner, R.H.

2009-01-01

Background. Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results. Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i) genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii) offspring heterozygosity was positively correlated with growth rate and survival. Conclusion. These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure. ?? 2009 Mulard et al; licensee BioMed Central Ltd.

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

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Ramey Andrew M

2009-06-01

Full Text Available Abstract Background Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii offspring heterozygosity was positively correlated with growth rate and survival. Conclusion These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure.

Bioactive conformational generation of small molecules: A comparative analysis between force-field and multiple empirical criteria based methods

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Jiang Hualiang

2010-11-01

Full Text Available Abstract Background Conformational sampling for small molecules plays an essential role in drug discovery research pipeline. Based on multi-objective evolution algorithm (MOEA, we have developed a conformational generation method called Cyndi in the previous study. In this work, in addition to Tripos force field in the previous version, Cyndi was updated by incorporation of MMFF94 force field to assess the conformational energy more rationally. With two force fields against a larger dataset of 742 bioactive conformations of small ligands extracted from PDB, a comparative analysis was performed between pure force field based method (FFBM and multiple empirical criteria based method (MECBM hybrided with different force fields. Results Our analysis reveals that incorporating multiple empirical rules can significantly improve the accuracy of conformational generation. MECBM, which takes both empirical and force field criteria as the objective functions, can reproduce about 54% (within 1Å RMSD of the bioactive conformations in the 742-molecule testset, much higher than that of pure force field method (FFBM, about 37%. On the other hand, MECBM achieved a more complete and efficient sampling of the conformational space because the average size of unique conformations ensemble per molecule is about 6 times larger than that of FFBM, while the time scale for conformational generation is nearly the same as FFBM. Furthermore, as a complementary comparison study between the methods with and without empirical biases, we also tested the performance of the three conformational generation methods in MacroModel in combination with different force fields. Compared with the methods in MacroModel, MECBM is more competitive in retrieving the bioactive conformations in light of accuracy but has much lower computational cost. Conclusions By incorporating different energy terms with several empirical criteria, the MECBM method can produce more reasonable conformational

Population genetic diversity and fitness in multiple environments

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McGreevy Thomas J

2010-07-01

Full Text Available Abstract Background When a large number of alleles are lost from a population, increases in individual homozygosity may reduce individual fitness through inbreeding depression. Modest losses of allelic diversity may also negatively impact long-term population viability by reducing the capacity of populations to adapt to altered environments. However, it is not clear how much genetic diversity within populations may be lost before populations are put at significant risk. Development of tools to evaluate this relationship would be a valuable contribution to conservation biology. To address these issues, we have created an experimental system that uses laboratory populations of an estuarine crustacean, Americamysis bahia with experimentally manipulated levels of genetic diversity. We created replicate cultures with five distinct levels of genetic diversity and monitored them for 16 weeks in both permissive (ambient seawater and stressful conditions (diluted seawater. The relationship between molecular genetic diversity at presumptive neutral loci and population vulnerability was assessed by AFLP analysis. Results Populations with very low genetic diversity demonstrated reduced fitness relative to high diversity populations even under permissive conditions. Population performance decreased in the stressful environment for all levels of genetic diversity relative to performance in the permissive environment. Twenty percent of the lowest diversity populations went extinct before the end of the study in permissive conditions, whereas 73% of the low diversity lines went extinct in the stressful environment. All high genetic diversity populations persisted for the duration of the study, although population sizes and reproduction were reduced under stressful environmental conditions. Levels of fitness varied more among replicate low diversity populations than among replicate populations with high genetic diversity. There was a significant correlation

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Science.gov (United States)

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C.A.; Patsopoulos, Nikolaos A.; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E.; Edkins, Sarah; Gray, Emma; Booth, David R.; Potter, Simon C.; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Céline; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D’alfonso, Sandra; Blackburn, Hannah; Boneschi, Filippo Martinelli; Liddle, Jennifer; Harbo, Hanne F.; Perez, Marc L.; Spurkland, Anne; Waller, Matthew J; Mycko, Marcin P.; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T.; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J.; Barcellos, Lisa F.; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E.; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P.; Brassat, David; Broadley, Simon A.; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M.; Cavalla, Paola; Celius, Elisabeth G.; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Françoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B.; Cozen, Wendy; Cree, Bruce A.C.; Cross, Anne H.; Cusi, Daniele; Daly, Mark J.; Davis, Emma; de Bakker, Paul I.W.; Debouverie, Marc; D’hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Bénédicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F.A.; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N.; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G.; Kilpatrick, Trevor J.; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S.; Leone, Maurizio A.; Leppä, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R.; Link, Jenny; Liu, Jianjun; Lorentzen, Åslaug R.; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L.; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L.; Ramsay, Patricia P.; Reunanen, Mauri; Reynolds, Richard; Rioux, John D.; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P.; Rückert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A.; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J.; Sellebjerg, Finn; Selmaj, Krzysztof W.; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M.A.; Smestad, Cathrine; Sørensen, Per Soelberg; Søndergaard, Helle Bach; Stankovich, Jim; Strange, Richard C.; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvänen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M.; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A.; Tronczynska, Ewa; Casas, Juan P.; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S.; Wang, Kai; Mathew, Christopher G.; Wason, James; Palmer, Colin N.A.; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C.; Yaouanq, Jacqueline; Viswanathan, Ananth C.; Zhang, Haitao; Wood, Nicholas W.; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J.; De Jager, Philip L.; Peltonen, Leena; Stewart, Graeme J.; Hafler, David A.; Hauser, Stephen L.; McVean, Gil; Donnelly, Peter; Compston, Alastair

2011-01-01

Multiple sclerosis (OMIM 126200) is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability.1 Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals;2,3 and systematic attempts to identify linkage in multiplex families have confirmed that variation within the Major Histocompatibility Complex (MHC) exerts the greatest individual effect on risk.4 Modestly powered Genome-Wide Association Studies (GWAS)5-10 have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects play a key role in disease susceptibility.11 Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the Class I region. Immunologically relevant genes are significantly over-represented amongst those mapping close to the identified loci and particularly implicate T helper cell differentiation in the pathogenesis of multiple sclerosis. PMID:21833088

Clustering economies based on multiple criteria decision making techniques

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Mansour Momeni

2011-10-01

Full Text Available One of the primary concerns on many countries is to determine different important factors affecting economic growth. In this paper, we study some factors such as unemployment rate, inflation ratio, population growth, average annual income, etc to cluster different countries. The proposed model of this paper uses analytical hierarchy process (AHP to prioritize the criteria and then uses a K-mean technique to cluster 59 countries based on the ranked criteria into four groups. The first group includes countries with high standards such as Germany and Japan. In the second cluster, there are some developing countries with relatively good economic growth such as Saudi Arabia and Iran. The third cluster belongs to countries with faster rates of growth compared with the countries located in the second group such as China, India and Mexico. Finally, the fourth cluster includes countries with relatively very low rates of growth such as Jordan, Mali, Niger, etc.

Allocation of police posts in a medium-sized city: a multiple criteria approach

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Charles Miller Gois de Oliveira

2015-09-01

Full Text Available Changes in violent crime rates implies a need for strategies to protect the population. Public safety policies should be focused on preventive security, which has the potential to reduce crime rates. The allocation of the police observation posts contributes to an increase in safety. However, given limited resources, the number of observation units has reduced in most Brazilian cities. Therefore, efficient allocation of these resources is necessary to ensure rational use of security agents. Several aspects influence decisions related to where to install these units, complicating this process. The multiple criteria approach is appropriate in this type of decision-making process, because it allows the decision maker to generate and consolidate knowledge. The results indicate that the most suitable neighborhoods are those with higher rates of violence and greater social gaps. This work presents some benefits to the area of public security, since it formalizes tacit knowledge into explicit knowledge. The information contained in this study may be made available to other public administrators who need to make this kind of decision.

Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population

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Hanysova Sandra

2017-08-01

Full Text Available Objective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5 to the risk of multiple sclerosis (MS development and find out the possible association with disease disability progression rate. Material and methods: Our study included 202 MS patients and 174 healthy control volunteers. MS patients were divided according to disability progression rate to three groups - slowly progressing, mid-rate progressing and rapidly progressing. All DNA samples were isolated from venous blood. Genotyping was performed by PCR-RFLP and multiplex PCR. Results: Our analysis showed that GSTT1 null genotype (OR 0.56; 95%CI 0.33 -0.95; p=0.04 and GSTM1, GSTT1 double null genotype (OR 0.32; 95%CI 0.14 - 0.74; p=0.006 are potentially protective in relation to MS. We observed similar result in GSTT1 null genotype in association with mid-rate progression (OR 0.48; 95%CI 0.24 - 0.97; p=0.05. Frequency of GSTM1 and GSTT1 double null genotype is significantly lower in subgroup of MS patients with progression rate defined as slow (OR 0.22; 95%CI 0.05 - 0.98; p=0.05 and middle (OR 0.33; 95%CI 0.11 - 0.99; p=0.045. We did not show any significant association of genetic changes rs1695 in GSTP1 and rs10735781 in EVI5 with MS or rate of disease progression. Conclusions: Genetic basis of multiple sclerosis is still not fully elucidated. Further research may clarify our results and confirm the value of studied factors for clinical practice.

Genetic evaluation with major genes and polygenic inheritance when some animals are not genotyped using gene content multiple-trait BLUP.

Science.gov (United States)

Legarra, Andrés; Vitezica, Zulma G

2015-11-17

In pedigreed populations with a major gene segregating for a quantitative trait, it is not clear how to use pedigree, genotype and phenotype information when some individuals are not genotyped. We propose to consider gene content at the major gene as a second trait correlated to the quantitative trait, in a gene content multiple-trait best linear unbiased prediction (GCMTBLUP) method. The genetic covariance between the trait and gene content at the major gene is a function of the substitution effect of the gene. This genetic covariance can be written in a multiple-trait form that accommodates any pattern of missing values for either genotype or phenotype data. Effects of major gene alleles and the genetic covariance between genotype at the major gene and the phenotype can be estimated using standard EM-REML or Gibbs sampling. Prediction of breeding values with genotypes at the major gene can use multiple-trait BLUP software. Major genes with more than two alleles can be considered by including negative covariances between gene contents at each different allele. We simulated two scenarios: a selected and an unselected trait with heritabilities of 0.05 and 0.5, respectively. In both cases, the major gene explained half the genetic variation. Competing methods used imputed gene contents derived by the method of Gengler et al. or by iterative peeling. Imputed gene contents, in contrast to GCMTBLUP, do not consider information on the quantitative trait for genotype prediction. GCMTBLUP gave unbiased estimates of the gene effect, in contrast to the other methods, with less bias and better or equal accuracy of prediction. GCMTBLUP improved estimation of genotypes in non-genotyped individuals, in particular if these individuals had own phenotype records and the trait had a high heritability. Ignoring the major gene in genetic evaluation led to serious biases and decreased prediction accuracy. CGMTBLUP is the best linear predictor of additive genetic merit including

CRISPR/Cas9 : A molecular Swiss army knife for simultaneous introduction of multiple genetic modifications in Saccharomyces cerevisiae

NARCIS (Netherlands)

Mans, R.; Van Rossum, H.M.; Wijsman, M.; Backx, A.; Kuijpers, N.G.A.; van den Broek, M.; Daran-Lapujade, P.A.S.; Pronk, J.T.; Van Maris, A.J.A.; Daran, J.G.

2015-01-01

A variety of techniques for strain engineering in Saccharomyces cerevisiae have recently been developed. However, especially when multiple genetic manipulations are required, strain construction is still a time-consuming process. This study describes new CRISPR/Cas9-based approaches for easy, fast

Sustainable national transport planning: Managing multiple objectives and criteria

DEFF Research Database (Denmark)

Jensen, Anders Vestergaard; Salling, Kim Bang; Leleur, Steen

not included in the CBA. One important part of the assessment is the selection of criteria to be included and this aspect will be examined by an appraisal study of the Rail Baltica corridor. In the study various alternatives are appraised with an explicit consideration of each alternative’s sustainability...... performance....

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

DEFF Research Database (Denmark)

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti

2011-01-01

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown...... the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture...... underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working...

A genetic algorithm for multiple relay selection in two-way relaying cognitive radio networks

KAUST Repository

Alsharoa, Ahmad M.

2013-09-01

In this paper, we investigate a multiple relay selection scheme for two-way relaying cognitive radio networks where primary users and secondary users operate on the same frequency band. More specifically, cooperative relays using Amplifyand- Forward (AF) protocol are optimally selected to maximize the sum rate of the secondary users without degrading the Quality of Service (QoS) of the primary users by respecting a tolerated interference threshold. A strong optimization tool based on genetic algorithm is employed to solve our formulated optimization problem where discrete relay power levels are considered. Our simulation results show that the practical heuristic approach achieves almost the same performance of the optimal multiple relay selection scheme either with discrete or continuous power distributions. Copyright © 2013 by the Institute of Electrical and Electronic Engineers, Inc.

Genetic and infectious profiles influence cerebrospinal fluid IgG abnormality in Japanese multiple sclerosis patients.

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Satoshi Yoshimura

Full Text Available BACKGROUND: Abnormal intrathecal synthesis of IgG, reflected by cerebrospinal fluid (CSF oligoclonal IgG bands (OBs and increased IgG index, is much less frequently observed in Japanese multiple sclerosis (MS cohorts compared with Western cohorts. We aimed to clarify whether genetic and common infectious backgrounds influence CSF IgG abnormality in Japanese MS patients. METHODOLOGY: We analyzed HLA-DRB1 alleles, and IgG antibodies against Chlamydia pneumoniae, Helicobacter pylori, Epstein-Barr virus nuclear antigen (EBNA, and varicella zoster virus (VZV in 94 patients with MS and 367 unrelated healthy controls (HCs. We defined CSF IgG abnormality as the presence of CSF OBs and/or increased IgG index (>0.658. PRINCIPAL FINDINGS: CSF IgG abnormality was found in 59 of 94 (62.8% MS patients. CSF IgG abnormality-positive patients had a significantly higher frequency of brain MRI lesions meeting the Barkhof criteria compared with abnormality-negative patients. Compared with HCs, CSF IgG abnormality-positive MS patients showed a significantly higher frequency of DRB1 1501, whereas CSF IgG abnormality-negative patients had a significantly higher frequency of DRB1 0405. CSF IgG abnormality-positive MS patients had a significantly higher frequency of anti-C. pneumoniae IgG antibodies compared with CSF IgG abnormality-negative MS patients, although there was no difference in the frequency of anti-C. pneumoniae IgG antibodies between HCs and total MS patients. Compared with HCs, anti-H. pylori IgG antibodies were detected significantly less frequently in the total MS patients, especially in CSF IgG abnormality-negative MS patients. The frequencies of antibodies against EBNA and VZV did not differ significantly among the groups. CONCLUSIONS: CSF IgG abnormality is associated with Western MS-like brain MRI features. DRB1 1501 and C. pneumoniae infection confer CSF IgG abnormality, while DRB1 0405 and H. pylori infection are positively and negatively

Pythagorean Fuzzy Muirhead Mean Operators and Their Application in Multiple-Criteria Group Decision-Making

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Jianghong Zhu

2018-06-01

Full Text Available As a generalization of the intuitionistic fuzzy set (IFS, a Pythagorean fuzzy set has more flexibility than IFS in expressing uncertainty and fuzziness in the process of multiple criteria group decision-making (MCGDM. Meanwhile, the prominent advantage of the Muirhead mean (MM operator is that it can reflect the relationships among the various input arguments through changing a parameter vector. Motivated by these primary characters, in this study, we introduced the MM operator into the Pythagorean fuzzy context to expand its applied fields. To do so, we presented the Pythagorean fuzzy MM (PFMM operators and Pythagorean fuzzy dual MM (PFDMM operator to fuse the Pythagorean fuzzy information. Then, we investigated their some properties and gave some special cases related to the parameter vector. In addition, based on the developed operators, two MCGDM methods under the Pythagorean fuzzy environment are proposed. An example is given to verify the validity and feasibility of our proposed methods, and a comparative analysis is provided to show their advantages.

The use of multiple imputation for the accurate measurements of individual feed intake by electronic feeders.

Science.gov (United States)

Jiao, S; Tiezzi, F; Huang, Y; Gray, K A; Maltecca, C

2016-02-01

Obtaining accurate individual feed intake records is the key first step in achieving genetic progress toward more efficient nutrient utilization in pigs. Feed intake records collected by electronic feeding systems contain errors (erroneous and abnormal values exceeding certain cutoff criteria), which are due to feeder malfunction or animal-feeder interaction. In this study, we examined the use of a novel data-editing strategy involving multiple imputation to minimize the impact of errors and missing values on the quality of feed intake data collected by an electronic feeding system. Accuracy of feed intake data adjustment obtained from the conventional linear mixed model (LMM) approach was compared with 2 alternative implementations of multiple imputation by chained equation, denoted as MI (multiple imputation) and MICE (multiple imputation by chained equation). The 3 methods were compared under 3 scenarios, where 5, 10, and 20% feed intake error rates were simulated. Each of the scenarios was replicated 5 times. Accuracy of the alternative error adjustment was measured as the correlation between the true daily feed intake (DFI; daily feed intake in the testing period) or true ADFI (the mean DFI across testing period) and the adjusted DFI or adjusted ADFI. In the editing process, error cutoff criteria are used to define if a feed intake visit contains errors. To investigate the possibility that the error cutoff criteria may affect any of the 3 methods, the simulation was repeated with 2 alternative error cutoff values. Multiple imputation methods outperformed the LMM approach in all scenarios with mean accuracies of 96.7, 93.5, and 90.2% obtained with MI and 96.8, 94.4, and 90.1% obtained with MICE compared with 91.0, 82.6, and 68.7% using LMM for DFI. Similar results were obtained for ADFI. Furthermore, multiple imputation methods consistently performed better than LMM regardless of the cutoff criteria applied to define errors. In conclusion, multiple imputation

Quantitative Seq-LGS: Genome-Wide Identification of Genetic Drivers of Multiple Phenotypes in Malaria Parasites

KAUST Repository

Abkallo, Hussein M.

2016-10-01

Identifying the genetic determinants of phenotypes that impact on disease severity is of fundamental importance for the design of new interventions against malaria. Traditionally, such discovery has relied on labor-intensive approaches that require significant investments of time and resources. By combining Linkage Group Selection (LGS), quantitative whole genome population sequencing and a novel mathematical modeling approach (qSeq-LGS), we simultaneously identified multiple genes underlying two distinct phenotypes, identifying novel alleles for growth rate and strain specific immunity (SSI), while removing the need for traditionally required steps such as cloning, individual progeny phenotyping and marker generation. The detection of novel variants, verified by experimental phenotyping methods, demonstrates the remarkable potential of this approach for the identification of genes controlling selectable phenotypes in malaria and other apicomplexan parasites for which experimental genetic crosses are amenable.

Local Action Groups and Rural Sustainable Development. A spatial multiple criteria approach for efficient territorial planning

DEFF Research Database (Denmark)

Palmisano, Giovanni Ottomano; Govindan, M.E., PhD.,, Kannan; Boggia, Antonio

2016-01-01

Local Action Groups in order to promote the objectives of Rural Sustainable Development within rural municipalities. Each Local Action Group applies the Strengths, Weaknesses, Opportunities and Threats analysis in order to identify for its own rural municipalities the strategic elements to which...... and a Weakness factors and decision alternatives, as well as impossibility of ranking the decision alternatives. Thus, this research aims to overcome the drawbacks of the Strengths, Weaknesses, Opportunities and Threats analysis and to support Local Action Group partnerships in the sustainability evaluation...... of their rural municipalities, and therefore to aid the identification of a common Rural Sustainable Development strategy to allocate the European Agricultural Fund for Rural Development budget. This decision problem was tackled by applying a Multiple Criteria Spatial Decision Support System that integrates...

A rapid and efficient protocol for in vitro multiplication of genetically uniform Stevia rebaudiana (Bertoni).

Science.gov (United States)

Khan, A; Jayanthi, M; Gantasala, Nagavara Prasad; Bhooshan, N; Rao, Uma

2016-07-01

Stevia rebaudiana (Bertoni), commonly called candy leaf or sweet leaf, endemic to South America, is an important medicinal plant. As a source of low calorie natural sweetener 'stevoside', it is used in obesity, diabetes, treatment of heartburn and tooth decay, and also serves as a food supplement. Large scale commercial propagation of S. rebaudiana demands a suitable protocol. Here, we propose an improved protocol for in vitro multiplication of S. rebaudiana from nodal explants. In this protocol, the effect of laboratory grade urea on multiple shoot induction from nodal explants was studied. The nodal explants were initially cultured on Murashige and Skoog (MS) basal media for 2 weeks which facilitated the axillary bud break. Further, culturing of these explants on MS medium fortified with 6 benzyl amninopurine (BAP) (2 mg/L) and Naphthalene acetic acid (NAA) (1 mg/L) with and .without urea (5 mg/L) for a period of 40 days revealed maximum shoot production of 44.56 from a single nodal explant in media supplemented with urea as compared to 22.44 without urea. The differences in the number of shoots produced were significant and these shoots readily rooted in MS media with NAA (4 mg/L). Primary and secondary hardening was successful in these plants. There were no visible morphological abnormalities observed in the micropropagated plantlets. Genetic analysis from random samples also revealed that these plants are genetically uniform. The advantage of the present protocol is that the complete process of multiple shoot induction, rooting and hardening could be completed within a period of 6 months as compared to the existing protocols.

Complete restoration of multiple dystrophin isoforms in genetically corrected Duchenne muscular dystrophy patient–derived cardiomyocytes

Directory of Open Access Journals (Sweden)

Susi Zatti

2014-01-01

Full Text Available Duchenne muscular dystrophy (DMD–associated cardiac diseases are emerging as a major cause of morbidity and mortality in DMD patients, and many therapies for treatment of skeletal muscle failed to improve cardiac function. The reprogramming of patients' somatic cells into pluripotent stem cells, combined with technologies for correcting the genetic defect, possesses great potential for the development of new treatments for genetic diseases. In this study, we obtained human cardiomyocytes from DMD patient–derived, induced pluripotent stem cells genetically corrected with a human artificial chromosome carrying the whole dystrophin genomic sequence. Stimulation by cytokines was combined with cell culturing on hydrogel with physiological stiffness, allowing an adhesion-dependent maturation and a proper dystrophin expression. The obtained cardiomyocytes showed remarkable sarcomeric organization of cardiac troponin T and α-actinin, expressed cardiac-specific markers, and displayed electrically induced calcium transients lasting less than 1 second. We demonstrated that the human artificial chromosome carrying the whole dystrophin genomic sequence is stably maintained throughout the cardiac differentiation process and that multiple promoters of the dystrophin gene are properly activated, driving expression of different isoforms. These dystrophic cardiomyocytes can be a valuable source for in vitro modeling of DMD-associated cardiac disease. Furthermore, the derivation of genetically corrected, patient-specific cardiomyocytes represents a step toward the development of innovative cell and gene therapy approaches for DMD.

User perspectives on relevance criteria

DEFF Research Database (Denmark)

Maglaughlin, Kelly L.; Sonnenwald, Diane H.

2002-01-01

, partially relevant, or not relevant to their information need; and explained their decisions in an interview. Analysis revealed 29 criteria, discussed positively and negatively, that were used by the participants when selecting passages that contributed or detracted from a document's relevance......This study investigates the use of criteria to assess relevant, partially relevant, and not-relevant documents. Study participants identified passages within 20 document representations that they used to make relevance judgments; judged each document representation as a whole to be relevant...... matter, thought catalyst), full text (e.g., audience, novelty, type, possible content, utility), journal/publisher (e.g., novelty, main focus, perceived quality), and personal (e.g., competition, time requirements). Results further indicate that multiple criteria are used when making relevant, partially...

A Hybrid Multiple Criteria Group Decision-Making Approach for Green Supplier Selection in the TFT-LCD Industry

Directory of Open Access Journals (Sweden)

Che-Wei Tsui

2014-01-01

Full Text Available The awareness of the need for environmental protection is increasing throughout the world. The focuses of green supplier selection are on considering environmental criteria and strengthening the competitiveness of the entire supply chain. The purpose of this study is to develop a green supplier selection procedure for the thin film transistor liquid crystal display (TFT-LCD industry using polarizer suppliers as an example. First, a decision framework for green supplier selection is developed based on literatures and the supplier audit forms provided by an anonymous flat panel display manufacturer in Taiwan. Then, a hybrid multiple criteria group decision-making (MCGDM method is proposed based on analytic hierarchy process (AHP, entropy, elimination and choice expressing the reality III (ELECTRE III, and the linear assignment method to assist the manufacturer in choosing among four polarizer suppliers. The final ranking results for green supplier selection and different opinions from each department are provided. An improvement report is suggested to enhance suppliers’ performance. For the evaluation procedure, most managers emphasize the importance of current capability and the capability of research and development. Furthermore, we found that the subsidiary supplier should improve quality control competence immediately to be considered as the potential candidate of primary supplier.

Scenario and multiple criteria decision analysis for energy and environmental security of military and industrial installations.

Science.gov (United States)

Karvetski, Christopher W; Lambert, James H; Linkov, Igor

2011-04-01

Military and industrial facilities need secure and reliable power generation. Grid outages can result in cascading infrastructure failures as well as security breaches and should be avoided. Adding redundancy and increasing reliability can require additional environmental, financial, logistical, and other considerations and resources. Uncertain scenarios consisting of emergent environmental conditions, regulatory changes, growth of regional energy demands, and other concerns result in further complications. Decisions on selecting energy alternatives are made on an ad hoc basis. The present work integrates scenario analysis and multiple criteria decision analysis (MCDA) to identify combinations of impactful emergent conditions and to perform a preliminary benefits analysis of energy and environmental security investments for industrial and military installations. Application of a traditional MCDA approach would require significant stakeholder elicitations under multiple uncertain scenarios. The approach proposed in this study develops and iteratively adjusts a scoring function for investment alternatives to find the scenarios with the most significant impacts on installation security. A robust prioritization of investment alternatives can be achieved by integrating stakeholder preferences and focusing modeling and decision-analytical tools on a few key emergent conditions and scenarios. The approach is described and demonstrated for a campus of several dozen interconnected industrial buildings within a major installation. Copyright © 2010 SETAC.

Genomic screening for dissection of a complex disease: The multiple sclerosis phenotype

Energy Technology Data Exchange (ETDEWEB)

Haines, J.L.; Bazyk, A.; Gusella, J.F. [Massachusetts General Hospital, Boston, MA (United States)] [and others

1994-09-01

Application of positional cloning to diseases with a complex etiology is fraught with problems. These include undefined modes of inheritance, heterogeneity, and epistasis. Although microsatellite markers now make genotyping the genome a straightforward task, no single analytical method is available to efficiently and accurately use these data for a complex disease. We have developed a multi-stage genomic screening strategy which uses a combination of non-parametric approaches (Affected Pedigree Member (APM) linkage analysis and robust sib pair analysis (SP)), and the parametric lod score approach (using four different genetic models). To warrant follow-up, a marker must have two or more of: a nominal P value of 0.05 or less on the non-parametric tests, or a lod score greater than 1.0 for any model. Two adjacent markers each fulfilling one criterion are also considered for follow-up. These criteria were determined both by simulation studies and our empirical experience in screening a large number of other disorders. We applied this approach to multiple sclerosis (MS), a complex neurological disorder with a strong but ill-defined genetic component. Analysis of the first 91 markers from our screen of 55 multiplex families found 5 markers which met the SP criteria, 13 markers which met the APM criteria, and 8 markers which met the lod score criteria. Five regions (on chromosomes 2, 4, 7, 14, and 19) met our overall criteria. However, no single method identified all of these regions, suggesting that each method is sensitive to various (unknown) influences. The chromosome 14 results were not supported by follow-up typing and analysis of markers in that region, but the chromosome 19 results remain well supported. Updated screening results will be presented.

Multi-criteria weighted order based maintenance decision making

NARCIS (Netherlands)

Dhanisetty, V.S.V.; Verhagen, W.J.C.; Curran, R.

2017-01-01

Decision making in daily maintenance requires consideration of multiple factors. The importance of each of the factors fluctuates depending on the repair scenario and the needs of the maintainer. In order to include the prioritisation of multiple criteria, a weighted decision making model is

Genetic diversity and differentiation patterns in Micromeria from the Canary Islands are congruent with multiple colonization dynamics and the establishment of species syngameons.

Science.gov (United States)

Curto, M; Puppo, P; Kratschmer, S; Meimberg, H

2017-08-22

Especially on islands closer to the mainland, such as the Canary Islands, different lineages that originated by multiple colonization events could have merged by hybridization, which then could have promoted radiation events (Herben et al., J Ecol 93: 572-575, 2005; Saunders and Gibson, J Ecol 93: 649-652, 2005; Caujapé-Castells, Jesters, red queens, boomerangs and surfers: a molecular outlook on the diversity of the Canarian endemic flora, 2011). This is an alternative to the scenario where evolution is mostly driven by drift (Silvertown, J Ecol 92: 168-173, 2004; Silvertown et al., J Ecol 93: 653-657, 2005). In the former case hybridization should be reflected in the genetic structure and diversity patterns of island species. In the present work we investigate Micromeria from the Canary Islands by extensively studying their phylogeographic pattern based on 15 microsatellite loci and 945 samples. These results are interpreted according to the hypotheses outlined above. Genetic structure assessment allowed us to genetically differentiate most Micromeria species and supported their current classification. We found that populations on younger islands were significantly more genetically diverse and less differentiated than those on older islands. Moreover, we found that genetic distance on younger islands was in accordance with an isolation-by-distance pattern, while on the older islands this was not the case. We also found evidence of introgression among species and islands. These results are congruent with a scenario of multiple colonizations during the expansion onto new islands. Hybridization contributes to the grouping of multiple lineages into highly diverse populations. Thus, in our case, islands receive several colonization events from different sources, which are combined into sink populations. This mechanism is in accordance with the surfing syngameon hypothesis. Contrary to the surfing syngameon current form, our results may reflect a slightly different

Criteria for quantitative and qualitative data integration: mixed-methods research methodology.

Science.gov (United States)

Lee, Seonah; Smith, Carrol A M

2012-05-01

Many studies have emphasized the need and importance of a mixed-methods approach for evaluation of clinical information systems. However, those studies had no criteria to guide integration of multiple data sets. Integrating different data sets serves to actualize the paradigm that a mixed-methods approach argues; thus, we require criteria that provide the right direction to integrate quantitative and qualitative data. The first author used a set of criteria organized from a literature search for integration of multiple data sets from mixed-methods research. The purpose of this article was to reorganize the identified criteria. Through critical appraisal of the reasons for designing mixed-methods research, three criteria resulted: validation, complementarity, and discrepancy. In applying the criteria to empirical data of a previous mixed methods study, integration of quantitative and qualitative data was achieved in a systematic manner. It helped us obtain a better organized understanding of the results. The criteria of this article offer the potential to produce insightful analyses of mixed-methods evaluations of health information systems.

Scientific reporting is suboptimal for aspects that characterize genetic risk prediction studies: a review of published articles based on the Genetic RIsk Prediction Studies statement.

Science.gov (United States)

Iglesias, Adriana I; Mihaescu, Raluca; Ioannidis, John P A; Khoury, Muin J; Little, Julian; van Duijn, Cornelia M; Janssens, A Cecile J W

2014-05-01

Our main objective was to raise awareness of the areas that need improvements in the reporting of genetic risk prediction articles for future publications, based on the Genetic RIsk Prediction Studies (GRIPS) statement. We evaluated studies that developed or validated a prediction model based on multiple DNA variants, using empirical data, and were published in 2010. A data extraction form based on the 25 items of the GRIPS statement was created and piloted. Forty-two studies met our inclusion criteria. Overall, more than half of the evaluated items (34 of 62) were reported in at least 85% of included articles. Seventy-seven percentage of the articles were identified as genetic risk prediction studies through title assessment, but only 31% used the keywords recommended by GRIPS in the title or abstract. Seventy-four percentage mentioned which allele was the risk variant. Overall, only 10% of the articles reported all essential items needed to perform external validation of the risk model. Completeness of reporting in genetic risk prediction studies is adequate for general elements of study design but is suboptimal for several aspects that characterize genetic risk prediction studies such as description of the model construction. Improvements in the transparency of reporting of these aspects would facilitate the identification, replication, and application of genetic risk prediction models. Copyright © 2014 Elsevier Inc. All rights reserved.

Genetic variations in multiple myeloma II

DEFF Research Database (Denmark)

Vangsted, A.; Klausen, T.W.; Vogel, U.

2012-01-01

Association studies on genetic variation to treatment effect may serve as a predictive marker for effect of treatment and can also uncover biological pathways behind drug effect. Single-nucleotide polymorphisms (SNPs) have been studied in relation to high-dose treatment (HDT), thalidomide- and bo...

Continuity between DSM-5 Categorical Criteria and Traits Criteria for Borderline Personality Disorder.

Science.gov (United States)

Bach, Bo; Sellbom, Martin

2016-08-01

Borderline personality disorder (BPD) includes a heterogeneous constellation of symptoms operationalized with 9 categorical criteria. As the field of personality disorder (PD) research moves to emphasize dimensional traits in its operationalization, it is important to delineate continuity between the 9 DSM-IV/Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) categorical criteria for BPD and the trait dimensions in DSM-5 Section III. To date, no study has attempted such validation. We examined the associations between the 9 categorical DSM-IV/DSM-5 criteria for BPD and the trait dimensions of the alternative DSM-5 model for PDs in consecutively recruited psychiatric outpatients (N = 142; 68% female; age: mean 29.02, SD 8.38). This was investigated by means of bivariate correlations, followed by multiple logistic regression analysis. The categorical BPD criteria were associated with conceptually related DSM-5 Section III traits (P > 0.001), except for the criterion of chronic feelings of emptiness. Consistent with the proposed traits criteria for BPD in DSM-5 Section III, we found Emotional lability, Anxiousness, Separation insecurity, Depressivity, Impulsivity, Risk taking, and Hostility to capture conceptually coherent BPD categorical criteria, while Suspiciousness was also strongly associated with BPD criteria. At the domain level, this applied to Negative affectivity, Disinhibition, and Psychoticism. Notably, Emotional lability, Impulsivity, and Suspiciousness emerged as unique predictors of BPD (P > 0.05). In addition to the proposed BPD traits criteria, Suspiciousness and features of Psychoticism also augment BPD features. Provided that these findings are replicated in forthcoming research, a modified traits operationalization of BPD is warranted. © The Author(s) 2016.

Proposed Diagnostic Criteria for Smartphone Addiction.

Science.gov (United States)

Lin, Yu-Hsuan; Chiang, Chih-Lin; Lin, Po-Hsien; Chang, Li-Ren; Ko, Chih-Hung; Lee, Yang-Han; Lin, Sheng-Hsuan

2016-01-01

Global smartphone penetration has led to unprecedented addictive behaviors. The aims of this study are to develop diagnostic criteria of smartphone addiction and to examine the discriminative ability and the validity of the diagnostic criteria. We developed twelve candidate criteria for characteristic symptoms of smartphone addiction and four criteria for functional impairment caused by excessive smartphone use. The participants consisted of 281 college students. Each participant was systematically assessed for smartphone-using behaviors by psychiatrist's structured diagnostic interview. The sensitivity, specificity, and diagnostic accuracy of the candidate symptom criteria were analyzed with reference to the psychiatrists' clinical global impression. The optimal model selection with its cutoff point of the diagnostic criteria differentiating the smartphone addicted subjects from non-addicted subjects was then determined by the best diagnostic accuracy. Six symptom criteria model with optimal cutoff point were determined based on the maximal diagnostic accuracy. The proposed smartphone addiction diagnostic criteria consisted of (1) six symptom criteria, (2) four functional impairment criteria and (3) exclusion criteria. Setting three symptom criteria as the cutoff point resulted in the highest diagnostic accuracy (84.3%), while the sensitivity and specificity were 79.4% and 87.5%, respectively. We suggested determining the functional impairment by two or more of the four domains considering the high accessibility and penetration of smartphone use. The diagnostic criteria of smartphone addiction demonstrated the core symptoms "impaired control" paralleled with substance related and addictive disorders. The functional impairment involved multiple domains provide a strict standard for clinical assessment.

Proposed Diagnostic Criteria for Smartphone Addiction.

Directory of Open Access Journals (Sweden)

Yu-Hsuan Lin

Full Text Available Global smartphone penetration has led to unprecedented addictive behaviors. The aims of this study are to develop diagnostic criteria of smartphone addiction and to examine the discriminative ability and the validity of the diagnostic criteria.We developed twelve candidate criteria for characteristic symptoms of smartphone addiction and four criteria for functional impairment caused by excessive smartphone use. The participants consisted of 281 college students. Each participant was systematically assessed for smartphone-using behaviors by psychiatrist's structured diagnostic interview. The sensitivity, specificity, and diagnostic accuracy of the candidate symptom criteria were analyzed with reference to the psychiatrists' clinical global impression. The optimal model selection with its cutoff point of the diagnostic criteria differentiating the smartphone addicted subjects from non-addicted subjects was then determined by the best diagnostic accuracy.Six symptom criteria model with optimal cutoff point were determined based on the maximal diagnostic accuracy. The proposed smartphone addiction diagnostic criteria consisted of (1 six symptom criteria, (2 four functional impairment criteria and (3 exclusion criteria. Setting three symptom criteria as the cutoff point resulted in the highest diagnostic accuracy (84.3%, while the sensitivity and specificity were 79.4% and 87.5%, respectively. We suggested determining the functional impairment by two or more of the four domains considering the high accessibility and penetration of smartphone use.The diagnostic criteria of smartphone addiction demonstrated the core symptoms "impaired control" paralleled with substance related and addictive disorders. The functional impairment involved multiple domains provide a strict standard for clinical assessment.

GENIE: a software package for gene-gene interaction analysis in genetic association studies using multiple GPU or CPU cores

Directory of Open Access Journals (Sweden)

Wang Kai

2011-05-01

Full Text Available Abstract Background Gene-gene interaction in genetic association studies is computationally intensive when a large number of SNPs are involved. Most of the latest Central Processing Units (CPUs have multiple cores, whereas Graphics Processing Units (GPUs also have hundreds of cores and have been recently used to implement faster scientific software. However, currently there are no genetic analysis software packages that allow users to fully utilize the computing power of these multi-core devices for genetic interaction analysis for binary traits. Findings Here we present a novel software package GENIE, which utilizes the power of multiple GPU or CPU processor cores to parallelize the interaction analysis. GENIE reads an entire genetic association study dataset into memory and partitions the dataset into fragments with non-overlapping sets of SNPs. For each fragment, GENIE analyzes: 1 the interaction of SNPs within it in parallel, and 2 the interaction between the SNPs of the current fragment and other fragments in parallel. We tested GENIE on a large-scale candidate gene study on high-density lipoprotein cholesterol. Using an NVIDIA Tesla C1060 graphics card, the GPU mode of GENIE achieves a speedup of 27 times over its single-core CPU mode run. Conclusions GENIE is open-source, economical, user-friendly, and scalable. Since the computing power and memory capacity of graphics cards are increasing rapidly while their cost is going down, we anticipate that GENIE will achieve greater speedups with faster GPU cards. Documentation, source code, and precompiled binaries can be downloaded from http://www.cceb.upenn.edu/~mli/software/GENIE/.

Genetic differentiation across multiple spatial scales of the Red Sea of the corals Stylophora pistillata and Pocillopora verrucosa

KAUST Repository

Monroe, Alison

2015-12-01

Observing populations at different spatial scales gives greater insight into the specific processes driving genetic differentiation and population structure. Here we determined population connectivity across multiple spatial scales in the Red Sea to determine the population structures of two reef building corals Stylophora pistillata and Pocillopora verrucosa. The Red sea is a 2,250 km long body of water with extremely variable latitudinal environmental gradients. Mitochondrial and microsatellite markers were used to determine distinct lineages and to look for genetic differentiation among sampling sites. No distinctive population structure across the latitudinal gradient was discovered within this study suggesting a phenotypic plasticity of both these species to various environments. Stylophora pistillata displayed a heterogeneous distribution of three distinct genetic populations on both a fine and large scale. Fst, Gst, and Dest were all significant (p-value<0.05) and showed moderate genetic differentiation between all sampling sites. However this seems to be byproduct of the heterogeneous distribution, as no distinct genetic population breaks were found. Stylophora pistillata showed greater population structure on a fine scale suggesting genetic selection based on fine scale environmental variations. However, further environmental and oceanographic data is needed to make more inferences on this structure at small spatial scales. This study highlights the deficits of knowledge of both the Red Sea and coral plasticity in regards to local environmental conditions.

An objective approach to determining criteria weights

Directory of Open Access Journals (Sweden)

Milić R. Milićević

2012-01-01

Full Text Available This paper presents an objective approach to determining criteria weights that can be successfully used in multiple criteria models. The methods of entropy, CRITIC and FANMA are presented in this paper as well as a possible combination of the methods of objective and subjective approaches. Although based on different theoretical settings, and therefore with different algorithms of realization, all methods have a decision matrix as a starting point. An objective approach to determining the weight of criteria eliminates the negative impacts of a decision maker on criteria weights as well as on the final solution of multicriteria problems. The main aim of this paper is to systematize description procedures as a kind of help when encountering a problem of determining the criteria weights for solving multicriteria tasks. A possibility of the method application is shown in a numerical example.

Common genetic variants in the 9p21 region and their associations with multiple tumours.

Science.gov (United States)

Gu, F; Pfeiffer, R M; Bhattacharjee, S; Han, S S; Taylor, P R; Berndt, S; Yang, H; Sigurdson, A J; Toro, J; Mirabello, L; Greene, M H; Freedman, N D; Abnet, C C; Dawsey, S M; Hu, N; Qiao, Y-L; Ding, T; Brenner, A V; Garcia-Closas, M; Hayes, R; Brinton, L A; Lissowska, J; Wentzensen, N; Kratz, C; Moore, L E; Ziegler, R G; Chow, W-H; Savage, S A; Burdette, L; Yeager, M; Chanock, S J; Chatterjee, N; Tucker, M A; Goldstein, A M; Yang, X R

2013-04-02

The chromosome 9p21.3 region has been implicated in the pathogenesis of multiple cancers. We systematically examined up to 203 tagging SNPs of 22 genes on 9p21.3 (19.9-32.8 Mb) in eight case-control studies: thyroid cancer, endometrial cancer (EC), renal cell carcinoma, colorectal cancer (CRC), colorectal adenoma (CA), oesophageal squamous cell carcinoma (ESCC), gastric cardia adenocarcinoma and osteosarcoma (OS). We used logistic regression to perform single SNP analyses for each study separately, adjusting for study-specific covariates. We combined SNP results across studies by fixed-effect meta-analyses and a newly developed subset-based statistical approach (ASSET). Gene-based P-values were obtained by the minP method using the Adaptive Rank Truncated Product program. We adjusted for multiple comparisons by Bonferroni correction. Rs3731239 in cyclin-dependent kinase inhibitors 2A (CDKN2A) was significantly associated with ESCC (P=7 × 10(-6)). The CDKN2A-ESCC association was further supported by gene-based analyses (Pgene=0.0001). In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (PASSET (P=0.007). Our data indicate that genetic variants in CDKN2A, and possibly nearby genes, may be associated with ESCC and several other tumours, further highlighting the importance of 9p21.3 genetic variants in carcinogenesis.

Pareto evolution of gene networks: an algorithm to optimize multiple fitness objectives

International Nuclear Information System (INIS)

Warmflash, Aryeh; Siggia, Eric D; Francois, Paul

2012-01-01

The computational evolution of gene networks functions like a forward genetic screen to generate, without preconceptions, all networks that can be assembled from a defined list of parts to implement a given function. Frequently networks are subject to multiple design criteria that cannot all be optimized simultaneously. To explore how these tradeoffs interact with evolution, we implement Pareto optimization in the context of gene network evolution. In response to a temporal pulse of a signal, we evolve networks whose output turns on slowly after the pulse begins, and shuts down rapidly when the pulse terminates. The best performing networks under our conditions do not fall into categories such as feed forward and negative feedback that also encode the input–output relation we used for selection. Pareto evolution can more efficiently search the space of networks than optimization based on a single ad hoc combination of the design criteria. (paper)

Pareto evolution of gene networks: an algorithm to optimize multiple fitness objectives.

Science.gov (United States)

Warmflash, Aryeh; Francois, Paul; Siggia, Eric D

2012-10-01

The computational evolution of gene networks functions like a forward genetic screen to generate, without preconceptions, all networks that can be assembled from a defined list of parts to implement a given function. Frequently networks are subject to multiple design criteria that cannot all be optimized simultaneously. To explore how these tradeoffs interact with evolution, we implement Pareto optimization in the context of gene network evolution. In response to a temporal pulse of a signal, we evolve networks whose output turns on slowly after the pulse begins, and shuts down rapidly when the pulse terminates. The best performing networks under our conditions do not fall into categories such as feed forward and negative feedback that also encode the input-output relation we used for selection. Pareto evolution can more efficiently search the space of networks than optimization based on a single ad hoc combination of the design criteria.

Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia.

Science.gov (United States)

Tang, Jinsong; Fan, Yu; Li, Hong; Xiang, Qun; Zhang, Deng-Feng; Li, Zongchang; He, Ying; Liao, Yanhui; Wang, Ya; He, Fan; Zhang, Fengyu; Shugart, Yin Yao; Liu, Chunyu; Tang, Yanqing; Chan, Raymond C K; Wang, Chuan-Yue; Yao, Yong-Gang; Chen, Xiaogang

2017-06-20

Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with monozygotic (MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations (DNMs) or inherited variants with susceptibility to schizophrenia. Eight non-synonymous DNMs (including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes (p.V24689I mutation in TTN, p.S2506T mutation in GCN1L1, IVS3+1G > T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis. By searching the inherited rare damaging or loss-of-function (LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes, we were able to distill genetic alterations in several schizophrenia risk genes, including GAD1, PLXNA2, RELN and FEZ1. Four inherited copy number variations (CNVs; including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families, respectively. Most of families carried both missense DNMs and inherited risk variants, which might suggest that DNMs, inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility. Our results support that schizophrenia is caused by a combination of multiple genetic factors, with each DNM/variant showing a relatively small effect size. Copyright © 2017 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. All rights reserved.

Could age modify the effect of genetic variants in IL6 and TNF-α genes in multiple myeloma?

Science.gov (United States)

Martino, Alessandro; Buda, Gabriele; Maggini, Valentina; Lapi, Francesco; Lupia, Antonella; Di Bello, Domenica; Orciuolo, Enrico; Galimberti, Sara; Barale, Roberto; Petrini, Mario; Rossi, Anna Maria

2012-05-01

Cytokines play a central role in multiple myeloma (MM) pathogenesis thus genetic variations within cytokines coding genes could influence MM susceptibility and therapy outcome. We investigated the impact of 8 SNPs in these genes in 202 MM cases and 235 controls also evaluating their impact on therapy outcome in a subset of 91 patients. Despite the overall negative findings, we found a significant age-modified effect of IL6 and TNF-α SNPs, on MM risk and therapy outcome, respectively. Therefore, this observation suggests that genetic variation in inflammation-related genes could be an important mediator of the complex interplay between ageing and cancer. Copyright © 2012 Elsevier Ltd. All rights reserved.

Genetic algorithm-based optimization of testing and maintenance under uncertain unavailability and cost estimation: A survey of strategies for harmonizing evolution and accuracy

International Nuclear Information System (INIS)

Villanueva, J.F.; Sanchez, A.I.; Carlos, S.; Martorell, S.

2008-01-01

This paper presents the results of a survey to show the applicability of an approach based on a combination of distribution-free tolerance interval and genetic algorithms for testing and maintenance optimization of safety-related systems based on unavailability and cost estimation acting as uncertain decision criteria. Several strategies have been checked using a combination of Monte Carlo (simulation)--genetic algorithm (search-evolution). Tolerance intervals for the unavailability and cost estimation are obtained to be used by the genetic algorithms. Both single- and multiple-objective genetic algorithms are used. In general, it is shown that the approach is a robust, fast and powerful tool that performs very favorably in the face of noise in the output (i.e. uncertainty) and it is able to find the optimum over a complicated, high-dimensional nonlinear space in a tiny fraction of the time required for enumeration of the decision space. This approach reduces the computational effort by means of providing appropriate balance between accuracy of simulation and evolution; however, negative effects are also shown when a not well-balanced accuracy-evolution couple is used, which can be avoided or mitigated with the use of a single-objective genetic algorithm or the use of a multiple-objective genetic algorithm with additional statistical information

Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues

Directory of Open Access Journals (Sweden)

A. Cecile J.W. Janssens

2006-12-01

Full Text Available Multifactorial diseases such as type 2 diabetes, osteoporosis, and cardiovascular disease are caused by a complex interplay of many genetic and nongenetic factors, each of which conveys a minor increase in the risk of disease. Unraveling the genetic origins of these diseases is expected to lead to individualized medicine, in which the prevention and treatment strategies are personalized on the basis of the results of predictive genetic tests. This great optimism is counterbalanced by concerns about the ethical, legal, and social implications of genomic medicine, such as the protection of privacy and autonomy, stigmatization, discrimination, and the psychological burden of genetic testing. These concerns are translated from genetic testing in monogenic disorders, but this translation may not be appropriate. Multiple genetic testing (genomic profiling has essential differences from genetic testing in monogenic disorders. The differences lie in the lower predictive value of the test results, the pleiotropic effects of susceptibility genes, and the low inheritance of genomic profiles. For these reasons, genomic profiling may be more similar to nongenetic tests than to predictive tests for monogenic diseases. Therefore, ethical, legal, and social issues that apply to predictive genetic testing for monogenic diseases may not be relevant for the prediction of multifactorial disorders in genomic medicine.

Using genetic algorithm and TOPSIS for Xinanjiang model calibration with a single procedure

Science.gov (United States)

Cheng, Chun-Tian; Zhao, Ming-Yan; Chau, K. W.; Wu, Xin-Yu

2006-01-01

Genetic Algorithm (GA) is globally oriented in searching and thus useful in optimizing multiobjective problems, especially where the objective functions are ill-defined. Conceptual rainfall-runoff models that aim at predicting streamflow from the knowledge of precipitation over a catchment have become a basic tool for flood forecasting. The parameter calibration of a conceptual model usually involves the multiple criteria for judging the performances of observed data. However, it is often difficult to derive all objective functions for the parameter calibration problem of a conceptual model. Thus, a new method to the multiple criteria parameter calibration problem, which combines GA with TOPSIS (technique for order performance by similarity to ideal solution) for Xinanjiang model, is presented. This study is an immediate further development of authors' previous research (Cheng, C.T., Ou, C.P., Chau, K.W., 2002. Combining a fuzzy optimal model with a genetic algorithm to solve multi-objective rainfall-runoff model calibration. Journal of Hydrology, 268, 72-86), whose obvious disadvantages are to split the whole procedure into two parts and to become difficult to integrally grasp the best behaviors of model during the calibration procedure. The current method integrates the two parts of Xinanjiang rainfall-runoff model calibration together, simplifying the procedures of model calibration and validation and easily demonstrated the intrinsic phenomenon of observed data in integrity. Comparison of results with two-step procedure shows that the current methodology gives similar results to the previous method, is also feasible and robust, but simpler and easier to apply in practice.

Layered evaluation of multi-criteria collaborative filtering for scientific paper recommendation

NARCIS (Netherlands)

Manouselis, N.; Verbert, K.; Alexandrov, V.; Lees, M.; Krzhizhanovskaya, V.; Dongarra, J.; Sloot, P.M.A.

2013-01-01

Recommendation algorithms have been researched extensively to help people deal with abundance of information. In recent years, the incorporation of multiple relevance criteria has attracted increased interest. Such multi-criteria recommendation approaches are researched as a paradigm for building

[Future challenges in multiple sclerosis].

Science.gov (United States)

Fernández, Óscar

2014-12-01

Multiple sclerosis occurs in genetically susceptible individuals, in whom an unknown environmental factor triggers an immune response, giving rise to a chronic and disabling autoimmune disease. Currently, significant progress is being made in our knowledge of the frequency and distribution of multiple sclerosis and its risk factors, genetics, pathology, pathogenesis, diagnostic and prognostic markers, and treatment. This has radically changed patients' and clinicians' expectations of multiple sclerosis and has raised hope that there will soon be a way to control the disease. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Multi criteria analysis in the renewable energy industry

CERN Document Server

San Cristóbal Mateo, José Ramón

2012-01-01

Decision makers in the Renewable Energy sector face an increasingly complex social, economic, technological, and environmental scenario in their decision process. Different groups of decision-makers become involved in the process, each group bringing along different criteria therefore, policy formulation for fossil fuel substitution by Renewable Energies must be addressed in a multi-criteria context. Multi Criteria Analysis in the Renewable Energy Industry is a direct response to the increasing interest in the Renewable Energy industry which can be seen as an important remedy to many environmental problems that the world faces today. The multiplicity of criteria and the increasingly complex social, economic, technological, and environmental scenario makes multi-criteria analysis a valuable tool in the decision-making process for fossil fuel substitution. The detailed chapters explore the use of the Multi-criteria decision-making methods and how they provide valuable assistance in reaching equitable and accept...

Optimal diversity of renewable energy alternatives under multiple criteria: An application to the UK

NARCIS (Netherlands)

Shmelev, S.E.; van den Bergh, J.C.J.M.

2016-01-01

We propose a multi-criteria analysis of alternative combinations of renewable energy technologies to meet a sustainable energy supply. It takes into account a range of criteria to reflect relevant environmental, social and economic considerations, capture the value of diversity, and reflect

Modeling Carbon Turnover in Five Terrestrial Ecosystems in the Boreal Zone Using Multiple Criteria of Acceptance

International Nuclear Information System (INIS)

Karlberg, Louise; Gustafsson, David; Jansson, Per-Erik

2006-01-01

Estimates of carbon fluxes and turnover in ecosystems are key elements in the understanding of climate change and in predicting the accumulation of trace elements in the biosphere. In this paper we present estimates of carbon fluxes and turnover times for five terrestrial ecosystems using a modeling approach. Multiple criteria of acceptance were used to parameterize the model, thus incorporating large amounts of multi-faceted empirical data in the simulations in a standardized manner. Mean turnover times of carbon were found to be rather similar between systems with a few exceptions, even though the size of both the pools and the fluxes varied substantially. Depending on the route of the carbon through the ecosystem, turnover times varied from less than one year to more than one hundred, which may be of importance when considering trace element transport and retention. The parameterization method was useful both in the estimation of unknown parameters, and to identify variability in carbon turnover in the selected ecosystems

Optimizing multiple sequence alignments using a genetic algorithm based on three objectives: structural information, non-gaps percentage and totally conserved columns.

Science.gov (United States)

Ortuño, Francisco M; Valenzuela, Olga; Rojas, Fernando; Pomares, Hector; Florido, Javier P; Urquiza, Jose M; Rojas, Ignacio

2013-09-01

Multiple sequence alignments (MSAs) are widely used approaches in bioinformatics to carry out other tasks such as structure predictions, biological function analyses or phylogenetic modeling. However, current tools usually provide partially optimal alignments, as each one is focused on specific biological features. Thus, the same set of sequences can produce different alignments, above all when sequences are less similar. Consequently, researchers and biologists do not agree about which is the most suitable way to evaluate MSAs. Recent evaluations tend to use more complex scores including further biological features. Among them, 3D structures are increasingly being used to evaluate alignments. Because structures are more conserved in proteins than sequences, scores with structural information are better suited to evaluate more distant relationships between sequences. The proposed multiobjective algorithm, based on the non-dominated sorting genetic algorithm, aims to jointly optimize three objectives: STRIKE score, non-gaps percentage and totally conserved columns. It was significantly assessed on the BAliBASE benchmark according to the Kruskal-Wallis test (P algorithm also outperforms other aligners, such as ClustalW, Multiple Sequence Alignment Genetic Algorithm (MSA-GA), PRRP, DIALIGN, Hidden Markov Model Training (HMMT), Pattern-Induced Multi-sequence Alignment (PIMA), MULTIALIGN, Sequence Alignment Genetic Algorithm (SAGA), PILEUP, Rubber Band Technique Genetic Algorithm (RBT-GA) and Vertical Decomposition Genetic Algorithm (VDGA), according to the Wilcoxon signed-rank test (P 0.05) with the advantage of being able to use less structures. Structural information is included within the objective function to evaluate more accurately the obtained alignments. The source code is available at http://www.ugr.es/~fortuno/MOSAStrE/MO-SAStrE.zip.

Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome.

Science.gov (United States)

Lohmueller, Kirk E; Albrechtsen, Anders; Li, Yingrui; Kim, Su Yeon; Korneliussen, Thorfinn; Vinckenbosch, Nicolas; Tian, Geng; Huerta-Sanchez, Emilia; Feder, Alison F; Grarup, Niels; Jørgensen, Torben; Jiang, Tao; Witte, Daniel R; Sandbæk, Annelli; Hellmann, Ines; Lauritzen, Torsten; Hansen, Torben; Pedersen, Oluf; Wang, Jun; Nielsen, Rasmus

2011-10-01

A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries of genetic variation, like allele frequencies, are also correlated with recombination rate and whether these correlations can be explained solely by negative selection against deleterious mutations or whether positive selection acting on favorable alleles is also required. Here we attempt to address these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations. However, models with strong positive selection on nonsynonymous mutations and little negative selection predict a stronger negative correlation between neutral diversity and nonsynonymous divergence than observed in the actual data, supporting the importance of negative, rather than positive, selection throughout the genome. Further, we show that the widespread presence of weakly deleterious alleles, rather than a small number of strongly positively selected mutations, is responsible for the correlation between neutral genetic diversity and recombination rate. This work suggests that natural selection has affected multiple aspects of linked neutral variation throughout the human genome and that positive selection is not required to explain these observations.

Multiple-trait estimates of genetic parameters for metabolic disease traits, fertility disorders, and their predictors in Canadian Holsteins.

Science.gov (United States)

Jamrozik, J; Koeck, A; Kistemaker, G J; Miglior, F

2016-03-01

Producer-recorded health data for metabolic disease traits and fertility disorders on 35,575 Canadian Holstein cows were jointly analyzed with selected indicator traits. Metabolic diseases included clinical ketosis (KET) and displaced abomasum (DA); fertility disorders were metritis (MET) and retained placenta (RP); and disease indicators were fat-to-protein ratio, milk β-hydroxybutyrate, and body condition score (BCS) in the first lactation. Traits in first and later (up to fifth) lactations were treated as correlated in the multiple-trait (13 traits in total) animal linear model. Bayesian methods with Gibbs sampling were implemented for the analysis. Estimates of heritability for disease incidence were low, up to 0.06 for DA in first lactation. Among disease traits, the environmental herd-year variance constituted 4% of the total variance for KET and less for other traits. First- and later-lactation disease traits were genetically correlated (from 0.66 to 0.72) across all traits, indicating different genetic backgrounds for first and later lactations. Genetic correlations between KET and DA were relatively strong and positive (up to 0.79) in both first- and later-lactation cows. Genetic correlations between fertility disorders were slightly lower. Metritis was strongly genetically correlated with both metabolic disease traits in the first lactation only. All other genetic correlations between metabolic and fertility diseases were statistically nonsignificant. First-lactation KET and MET were strongly positively correlated with later-lactation performance for these traits due to the environmental herd-year effect. Indicator traits were moderately genetically correlated (from 0.30 to 0.63 in absolute values) with both metabolic disease traits in the first lactation. Smaller and mostly nonsignificant genetic correlations were among indicators and metabolic diseases in later lactations. The only significant genetic correlations between indicators and fertility

Safety criteria for nuclear chemical plants

International Nuclear Information System (INIS)

Ball, P.W.; Curtis, L.M.

1983-01-01

Safety measures have always been required to limit the hazards due to accidental release of radioactive substances from nuclear power plants and chemical plants. The risk associated with the discharge of radioactive substances during normal operation has also to be kept acceptably low. BNFL (British Nuclear Fuels Ltd.) are developing risk criteria as targets for safe plant design and operation. The numerical values derived are compared with these criteria to see if plants are 'acceptably safe'. However, the criteria are not mandatory and may be exceeded if this can be justified. The risk assessments are subject to independent review and audit. The Nuclear Installations Inspectorate also has to pass the plants as safe. The assessment principles it uses are stated. The development of risk criteria for a multiplant site (nuclear chemical plants tend to be sited with many others which are related functionally) is discussed. This covers individual members of the general public, societal risks, risks to the workforce and external hazards. (U.K.)

Multiple-trait genetic evaluation using genomic matrix

African Journals Online (AJOL)

Jane

2011-07-06

Jul 6, 2011 ... relationships was estimated through computer simulation and was compared with the accuracy of ... programs, detect animals with superior genetic and select ... genomic matrices in the mixed model equations of BLUP.

Packaging design criteria for the MCO cask

International Nuclear Information System (INIS)

Clements, M.D.

1996-01-01

Approximately 2,100 metric tons of unprocessed, irradiated nuclear fuel elements are presently stored in the K Basins. To permit cleanup of the K Basins and fuel conditioning, the fuel will be transported from the K Basins to a Canister Storage Building in the 200 East Area. The purpose of this packaging design criteria is to provide criteria for the design, fabrication, and use of a packaging system to transport the large quantities of irradiated nuclear fuel elements positioned within Multiple Canister Overpacks

Identification of potential biomarkers from microarray experiments using multiple criteria optimization

International Nuclear Information System (INIS)

Sánchez-Peña, Matilde L; Isaza, Clara E; Pérez-Morales, Jaileene; Rodríguez-Padilla, Cristina; Castro, José M; Cabrera-Ríos, Mauricio

2013-01-01

Microarray experiments are capable of determining the relative expression of tens of thousands of genes simultaneously, thus resulting in very large databases. The analysis of these databases and the extraction of biologically relevant knowledge from them are challenging tasks. The identification of potential cancer biomarker genes is one of the most important aims for microarray analysis and, as such, has been widely targeted in the literature. However, identifying a set of these genes consistently across different experiments, researches, microarray platforms, or cancer types is still an elusive endeavor. Besides the inherent difficulty of the large and nonconstant variability in these experiments and the incommensurability between different microarray technologies, there is the issue of the users having to adjust a series of parameters that significantly affect the outcome of the analyses and that do not have a biological or medical meaning. In this study, the identification of potential cancer biomarkers from microarray data is casted as a multiple criteria optimization (MCO) problem. The efficient solutions to this problem, found here through data envelopment analysis (DEA), are associated to genes that are proposed as potential cancer biomarkers. The method does not require any parameter adjustment by the user, and thus fosters repeatability. The approach also allows the analysis of different microarray experiments, microarray platforms, and cancer types simultaneously. The results include the analysis of three publicly available microarray databases related to cervix cancer. This study points to the feasibility of modeling the selection of potential cancer biomarkers from microarray data as an MCO problem and solve it using DEA. Using MCO entails a new optic to the identification of potential cancer biomarkers as it does not require the definition of a threshold value to establish significance for a particular gene and the selection of a normalization

The multiple genetic causes of central hypothyroidism.

Science.gov (United States)

Persani, Luca; Bonomi, Marco

2017-03-01

An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in patients with a previously unknown pituitary involvement. A series of genetic defects have been described to account for isolated CeH or combined pituitary hormone defects (CPHDs) with variable clinical characteristics and degrees of severity. The recently identified candidate gene IGSF1 appears frequently involved. This review provides an updated illustration of the different genetic defects accounting for CeH. Copyright © 2017 Elsevier Ltd. All rights reserved.

Criteria for candidate species for aquaculture

Energy Technology Data Exchange (ETDEWEB)

Webber, H H; Riordan, P F

1976-01-01

The nature of the animal taxa that are the most probable candidates for an intensive, commercial aquatic animal husbandry industry is considered. A characterization is presented of those biological criteria that lend the species the necessary physiological and genetic malleability to be adapted and molded into a domesticated race. The animal cultivated must be amenable to intensive management in high-density confinements such as those now being engineered for high-yield aquaculture. Attributes considered are discussed in the context of the various aquacultural ecosystems in which the specific biotype is expected to achieve satisfactory growth and survival. Correlative with bionomic criteria, economic requirements are posed and evaluated in an effort to define a socially and financially profitable agribusiness system. Investment requirements and operating costs are considered in terms of expected returns. However, since production alone is insufficient to sustain an enterprise - i.e., the product must be sold - production costs must be judged against market values. Therefore, ultimate use or consumer acceptance criteria are incorporated into the list of essential requirements for a candidate species for aquafarming.

Application of genetic algorithm - multiple linear regressions to predict the activity of RSK inhibitors

Directory of Open Access Journals (Sweden)

Avval Zhila Mohajeri

2015-01-01

Full Text Available This paper deals with developing a linear quantitative structure-activity relationship (QSAR model for predicting the RSK inhibition activity of some new compounds. A dataset consisting of 62 pyrazino [1,2-α] indole, diazepino [1,2-α] indole, and imidazole derivatives with known inhibitory activities was used. Multiple linear regressions (MLR technique combined with the stepwise (SW and the genetic algorithm (GA methods as variable selection tools was employed. For more checking stability, robustness and predictability of the proposed models, internal and external validation techniques were used. Comparison of the results obtained, indicate that the GA-MLR model is superior to the SW-MLR model and that it isapplicable for designing novel RSK inhibitors.

BPA genetic monitoring - BPA Genetic Monitoring Project

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

Molecular evolution of avian reovirus: evidence for genetic diversity and reassortment of the S-class genome segments and multiple cocirculating lineages

International Nuclear Information System (INIS)

Liu, Hung J.; Lee, Long H.; Hsu, Hsiao W.; Kuo, Liam C.; Liao, Ming H.

2003-01-01

Nucleotide sequences of the S-class genome segments of 17 field-isolates and vaccine strains of avian reovirus (ARV) isolated over a 23-year period from different hosts, pathotypes, and geographic locations were examined and analyzed to define phylogenetic profiles and evolutionary mechanism. The S1 genome segment showed noticeably higher divergence than the other S-class genes. The σC-encoding gene has evolved into six distinct lineages. In contrast, the other S-class genes showed less divergence than that of the σC-encoding gene and have evolved into two to three major distinct lineages, respectively. Comparative sequence analysis provided evidence indicating extensive sequence divergence between ARV and other orthoreoviruses. The evolutionary trees of each gene were distinct, suggesting that these genes evolve in an independent manner. Furthermore, variable topologies were the result of frequent genetic reassortment among multiple cocirculating lineages. Results showed genetic diversity correlated more closely with date of isolation and geographic sites than with host species and pathotypes. This is the first evidence demonstrating genetic variability among circulating ARVs through a combination of evolutionary mechanisms involving multiple cocirculating lineages and genetic reassortment. The evolutionary rates and patterns of base substitutions were examined. The evolutionary rate for the σC-encoding gene and σC protein was higher than for the other S-class genes and other family of viruses. With the exception of the σC-encoding gene, which nonsynonymous substitutions predominate over synonymous, the evolutionary process of the other S-class genes can be explained by the neutral theory of molecular evolution. Results revealed that synonymous substitutions predominate over nonsynonymous in the S-class genes, even though genetic diversity and substitution rates vary among the viruses

Characterization of recombination features and the genetic basis in multiple cattle breeds.

Science.gov (United States)

Shen, Botong; Jiang, Jicai; Seroussi, Eyal; Liu, George E; Ma, Li

2018-04-27

Crossover generated by meiotic recombination is a fundamental event that facilitates meiosis and sexual reproduction. Comparative studies have shown wide variation in recombination rate among species, but the characterization of recombination features between cattle breeds has not yet been performed. Cattle populations in North America count millions, and the dairy industry has genotyped millions of individuals with pedigree information that provide a unique opportunity to study breed-level variations in recombination. Based on large pedigrees of Jersey, Ayrshire and Brown Swiss cattle with genotype data, we identified over 3.4 million maternal and paternal crossover events from 161,309 three-generation families. We constructed six breed- and sex-specific genome-wide recombination maps using 58,982 autosomal SNPs for two sexes in the three dairy cattle breeds. A comparative analysis of the six recombination maps revealed similar global recombination patterns between cattle breeds but with significant differences between sexes. We confirmed that male recombination map is 10% longer than the female map in all three cattle breeds, consistent with previously reported results in Holstein cattle. When comparing recombination hotspot regions between cattle breeds, we found that 30% and 10% of the hotspots were shared between breeds in males and females, respectively, with each breed exhibiting some breed-specific hotspots. Finally, our multiple-breed GWAS found that SNPs in eight loci affected recombination rate and that the PRDM9 gene associated with hotspot usage in multiple cattle breeds, indicating a shared genetic basis for recombination across dairy cattle breeds. Collectively, our results generated breed- and sex-specific recombination maps for multiple cattle breeds, provided a comprehensive characterization and comparison of recombination patterns between breeds, and expanded our understanding of the breed-level variations in recombination features within an

[A review of multiple sclerosis (2). Diagnosis and treatment].

Science.gov (United States)

Martinez-Altarriba, M C; Ramos-Campoy, O; Luna-Calcaño, I M; Arrieta-Antón, E

2015-09-01

Multiple sclerosis is a major demyelinating disease of the central nervous system. It has a significant economic and social impact. Its etiology is unclear, although there are several hypotheses, such as infections or genetics. In its pathophysiology, it seems that immune activation attacks the myelin sheath, causing a progressive and irreversible axonal degeneration. The disease produces a variety of symptoms, and diagnosis requires fulfilling a number of criteria and the exclusion of other possible causes. The role of neuroimaging is very important, especially Magnetic Resonance Imaging. Despite the availability of disease-modifying drugs, none of them are able to halt its progress, and the most useful drugs are those designed to alleviate the symptoms of outbreaks. Overall, multiple sclerosis requires a significant effort in research to clarify not only why and how it occurs, as well as the development of new measures to improve quality of life of affected patients. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

Multiple criteria decision-making process to derive consensus desired genetic gains for a dairy cattle breeding objective for diverse production systems.

Science.gov (United States)

Kariuki, C M; van Arendonk, J A M; Kahi, A K; Komen, H

2017-06-01

Dairy cattle industries contribute to food and nutrition security and are a source of income for numerous households in many developing countries. Selective breeding can enhance efficiency in these industries. Developing dairy industries are characterized by diverse production and marketing systems. In this paper, we use weighted goal aggregating procedure to derive consensus trait preferences for different producer categories and processors. We based the study on the dairy industry in Kenya. The analytic hierarchy process was used to derive individual preferences for milk yield (MY), calving interval (CIN), production lifetime (PLT), mature body weight (MBW), and fat yield (FY). Results show that classical classification of production systems into large-scale and smallholder systems does not capture all differences in trait preferences. These differences became apparent when classification was based on productivity at the individual animal level, with high and low intensity producers and processors as the most important groups. High intensity producers had highest preferences for PLT and MY, whereas low intensity producers had highest preference for CIN and PLT; processors preferred MY and FY the most. The highest disagreements between the groups were observed for FY, PLT, and MY. Individual and group preferences were aggregated into consensus preferences using weighted goal programming. Desired gains were obtained as a product of consensus preferences and percentage genetic gains (G%). These were 2.42, 0.22, 2.51, 0.15, and 0.87 for MY, CIN, PLT, MBW, and FY, respectively. Consensus preferences can be used to derive a single compromise breeding objective for situations where the same genetic resources are used in diverse production and marketing circumstances. The Authors. Published by the Federation of Animal Science Societies and Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY-NC-ND license

Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.

Science.gov (United States)

Ren, Zi; Zeng, Hai-tao; Xu, Yan-wen; Zhuang, Guang-lun; Deng, Jie; Zhang, Cheng; Zhou, Can-quan

2009-02-01

To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for female carriers with Duchenne muscular dystrophy (DMD). MDA was used to amplify a whole genome of single cells. Following the setup on single cells, the test was applied in two clinical cases of PGD. One mutant exon, six short tandem repeats (STR) markers within the dystrophin gene, and amelogenin were incorporated into singleplex polymerase chain reaction (PCR) assays on MDA products of single blastomeres. Center for reproductive medicine in First Affiliated Hospital, Sun Yat-sen University, China. Two female carriers with a duplication of exons 3-11 and a deletion of exons 47-50, respectively. The MDA of single cells and fluorescent PCR assays for PGD. The ability to analyze single blastomeres for DMD using MDA. The protocol setup previously allowed for the accurate diagnosis of each embryo. Two clinical cases resulted in a healthy girl, which was the first successful clinical application of MDA in PGD for DMD. We suggest that this protocol is reliable to increase the accuracy of the PGD for DMD.

[Genetics and epigenetics in autism].

Science.gov (United States)

Nakayama, Atsuo; Masaki, Shiego; Aoki, Eiko

2006-11-01

Autism is a behaviorally defined syndrome characterized by impaired social interaction and communication, and restricted, stereotyped interests and behaviors. Several lines of evidence support the contention that genetic factors are a large component to autism etiology. However, in spite of vigorous genetic studies, no single causative or susceptibility gene common in autism has been identified. Thus multiple susceptibility genes in interaction are considered to account for the disorder. Furthermore, environmental risk factors can accelerate the autism development of. Recent advances in understanding the epigenetic regulation may shed light on the interaction among multiple genetic factors and environmental factors.

Multiple sclerosis in children: an update on clinical diagnosis, therapeutic strategies, and research

Science.gov (United States)

Waldman, Amy; Ghezzi, Angelo; Bar-Or, Amit; Mikaeloff, Yann; Tardieu, Marc; Banwell, Brenda

2015-01-01

The clinical features, diagnostic challenges, neuroimaging appearance, therapeutic options, and pathobiological research progress in childhood—and adolescent—onset multiple sclerosis have been informed by many new insights in the past 7 years. National programmes in several countries, collaborative research efforts, and an established international paediatric multiple sclerosis study group have contributed to revised clinical diagnostic definitions, identified clinical features of multiple sclerosis that differ by age of onset, and made recommendations regarding the treatment of paediatric multiple sclerosis. The relative risks conveyed by genetic and environmental factors to paediatric multiple sclerosis have been the subject of several large cohort studies. MRI features have been characterised in terms of qualitative descriptions of lesion distribution and applicability of MRI aspects to multiple sclerosis diagnostic criteria, and quantitative studies have assessed total lesion burden and the effect of the disease on global and regional brain volume. Humoral-based and cell-based assays have identified antibodies against myelin, potassium-channel proteins, and T-cell profiles that support an adult-like T-cell repertoire and cellular reactivity against myelin in paediatric patients with multiple sclerosis. Finally, the safety and efficacy of standard first-line therapies in paediatric multiple sclerosis populations are now appreciated in more detail, and consensus views on the future conduct and feasibility of phase 3 trials for new drugs have been proposed. PMID:25142460

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

Directory of Open Access Journals (Sweden)

van der Vleuten Cees

2011-02-01

Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

Maternal Smoking During Pregnancy and Offspring Birth Weight: A Genetically-Informed Approach Comparing Multiple Raters

Science.gov (United States)

Knopik, Valerie S.; Marceau, Kristine; Palmer, Rohan H. C.; Smith, Taylor F.; Heath, Andrew C.

2016-01-01

Maternal smoking during pregnancy (SDP) is a significant public health concern with adverse consequences to the health and well-being of the fetus. There is considerable debate about the best method of assessing SDP, including birth/medical records, timeline follow-back approaches, multiple reporters, and biological verification (e.g., cotinine). This is particularly salient for genetically-informed approaches where it is not always possible or practical to do a prospective study starting during the prenatal period when concurrent biological specimen samples can be collected with ease. In a sample of families (N = 173) specifically selected for sibling pairs discordant for prenatal smoking exposure, we: (1) compare rates of agreement across different types of report—maternal report of SDP, paternal report of maternal SDP, and SDP contained on birth records from the Department of Vital Statistics; (2) examine whether SDP is predictive of birth weight outcomes using our best SDP report as identified via step (1); and (3) use a sibling-comparison approach that controls for genetic and familial influences that siblings share in order to assess the effects of SDP on birth weight. Results show high agreement between reporters and support the utility of retrospective report of SDP. Further, we replicate a causal association between SDP and birth weight, wherein SDP results in reduced birth weight even when accounting for genetic and familial confounding factors via a sibling comparison approach. PMID:26494459

A multiobjective non-dominated sorting genetic algorithm (NSGA-II for the Multiple Traveling Salesman Problem

Directory of Open Access Journals (Sweden)

Rubén Iván Bolaños

2015-06-01

Full Text Available This paper considers a multi-objective version of the Multiple Traveling Salesman Problem (MOmTSP. In particular, two objectives are considered: the minimization of the total traveled distance and the balance of the working times of the traveling salesmen. The problem is formulated as an integer multi-objective optimization model. A non-dominated sorting genetic algorithm (NSGA-II is proposed to solve the MOmTSP. The solution scheme allows one to find a set of ordered solutions in Pareto fronts by considering the concept of dominance. Tests on real world instances and instances adapted from the literature show the effectiveness of the proposed algorithm.

Alternatives and challenges in optimizing industrial safety using genetic algorithms

International Nuclear Information System (INIS)

Martorell, Sebastian; Sanchez, Ana; Carlos, Sofia; Serradell, Vicente

2004-01-01

Safety (S) improvement of industrial installations leans on the optimal allocation of designs that use more reliable equipment and testing and maintenance activities to assure a high level of reliability, availability and maintainability (RAM) for their safety-related systems. However, this also requires assigning a certain amount of resources (C) that are usually limited. Therefore, the decision-maker in this context faces in general a multiple-objective optimization problem (MOP) based on RAMS+C criteria where the parameters of design, testing and maintenance act as decision variables. Solutions to the MOP can be obtained by solving the problem directly, or by transforming it into several single-objective problems. A general framework for such MOP based on RAMS+C criteria is proposed in this paper. Then, problem formulation and fundamentals of two major groups of resolution alternatives are presented. Next, both alternatives are implemented in this paper using genetic algorithms (GAs), named single-objective GA and multi-objective GA, respectively, which are then used in the case of application to solve the problem of testing and maintenance optimization based on unavailability and cost criteria. The results show the capabilities and limitations of both approaches. Based on them, future challenges are identified in this field and guidelines provided for further research

An Intuitionistic Multiplicative ORESTE Method for Patients’ Prioritization of Hospitalization

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Cheng Zhang

2018-04-01

Full Text Available The tension brought about by sickbeds is a common and intractable issue in public hospitals in China due to the large population. Assigning the order of hospitalization of patients is difficult because of complex patient information such as disease type, emergency degree, and severity. It is critical to rank the patients taking full account of various factors. However, most of the evaluation criteria for hospitalization are qualitative, and the classical ranking method cannot derive the detailed relations between patients based on these criteria. Motivated by this, a comprehensive multiple criteria decision making method named the intuitionistic multiplicative ORESTE (organísation, rangement et Synthèse dedonnées relarionnelles, in French was proposed to handle the problem. The subjective and objective weights of criteria were considered in the proposed method. To do so, first, considering the vagueness of human perceptions towards the alternatives, an intuitionistic multiplicative preference relation model is applied to represent the experts’ preferences over the pairwise alternatives with respect to the predetermined criteria. Then, a correlation coefficient-based weight determining method is developed to derive the objective weights of criteria. This method can overcome the biased results caused by highly-related criteria. Afterwards, we improved the general ranking method, ORESTE, by introducing a new score function which considers both the subjective and objective weights of criteria. An intuitionistic multiplicative ORESTE method was then developed and further highlighted by a case study concerning the patients’ prioritization.

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

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Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

2017-06-01

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

Assessment of Communications-related Admissions Criteria in a Three-year Pharmacy Program.

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Parmar, Jayesh R; Tejada, Frederick R; Lang, Lynn A; Purnell, Miriam; Acedera, Lisa; Ngonga, Ferdinand

2015-08-25

To determine if there is a correlation between TOEFL and other admissions criteria that assess communications skills (ie, PCAT variables: verbal, reading, essay, and composite), interview, and observational scores and to evaluate TOEFL and these admissions criteria as predictors of academic performance. Statistical analyses included two sample t tests, multiple regression and Pearson's correlations for parametric variables, and Mann-Whitney U for nonparametric variables, which were conducted on the retrospective data of 162 students, 57 of whom were foreign-born. The multiple regression model of the other admissions criteria on TOEFL was significant. There was no significant correlation between TOEFL scores and academic performance. However, significant correlations were found between the other admissions criteria and academic performance. Since TOEFL is not a significant predictor of either communication skills or academic success of foreign-born PharmD students in the program, it may be eliminated as an admissions criterion.

Human genetics of infectious diseases: a unified theory

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Casanova, Jean-Laurent; Abel, Laurent

2007-01-01

Since the early 1950s, the dominant paradigm in the human genetics of infectious diseases postulates that rare monogenic immunodeficiencies confer vulnerability to multiple infectious diseases (one gene, multiple infections), whereas common infections are associated with the polygenic inheritance of multiple susceptibility genes (one infection, multiple genes). Recent studies, since 1996 in particular, have challenged this view. A newly recognised group of primary immunodeficiencies predisposing the individual to a principal or single type of infection is emerging. In parallel, several common infections have been shown to reflect the inheritance of one major susceptibility gene, at least in some populations. This novel causal relationship (one gene, one infection) blurs the distinction between patient-based Mendelian genetics and population-based complex genetics, and provides a unified conceptual frame for exploring the molecular genetic basis of infectious diseases in humans. PMID:17255931

Prevalence of multiple sclerosis in Verona, Italy: an epidemiological and genetic study.

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Gajofatto, A; Stefani, A; Turatti, M; Bianchi, M R; Lira, M G; Moretto, G; Salviati, A; Benedetti, M D

2013-04-01

Recent multiple sclerosis (MS) prevalence studies classify Italy as a high-risk area without intra-regional latitude effect. To determine MS prevalence in Verona, Italy, and frequency of myelin oligodendrocyte glycoprotein (MOG) gene G511C polymorphism and HLA-DRB1*15 locus in a sample of cases and healthy controls. The study area population on the prevalence date (31 December 2001) was 253208 (133508 women, 119700 men). Multiple case sources were examined. Patients fulfilling McDonald's criteria (2001) were included. Crude, age- and sex-specific prevalence rates were computed. MOG G511C polymorphism and HLA-DRB1*15 were determined by standard methods. We identified 270 cases of MS yielding a crude prevalence rate of 106.6/100000 (95% CI: 94-120). Prevalence was higher in women (140.8/100000) than in men (68.5/100000). The age-adjusted prevalence rate standardized to the European population was 96.0/100000. MOG G511C polymorphism did not differ between cases and controls. HLA-DRB1*15 frequency was 58/155 (37%) in cases and 24/157 (15%) in controls (P<0.001). There was no HLA-DRB1*15 influence on susceptibility to other autoimmune disorders. The high MS prevalence in Verona confirms Italy as a high-risk area with a homogenous distribution across the country. HLA-DRB1*15 is a relevant MS susceptibility locus in the Italian population, possibly with little influence on the occurrence of concomitant autoimmune disorders. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

Genetics of bipolar disorder

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Kerner B

2014-02-01

Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

To What Extent Do Biology Textbooks Contribute to Scientific Literacy? Criteria for Analysing Science-Technology-Society-Environment Issues

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Calado, Florbela M.; Scharfenberg, Franz-Josef; Bogner, Franz X.

2015-01-01

Our article proposes a set of six criteria for analysing science-technology-society-environment (STSE) issues in regular textbooks as to how they are expected to contribute to students' scientific literacy. We chose genetics and gene technology as fields prolific in STSE issues. We derived our criteria (including 26 sub-criteria) from a literature…

The genetic legacy of multiple beaver reintroductions in Central Europe.

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Frosch, Christiane; Kraus, Robert H S; Angst, Christof; Allgöwer, Rainer; Michaux, Johan; Teubner, Jana; Nowak, Carsten

2014-01-01

The comeback of the Eurasian beaver (Castor fiber) throughout western and central Europe is considered a major conservation success. Traditionally, several subspecies are recognised by morphology and mitochondrial haplotype, each linked to a relict population. During various reintroduction programs in the 20th century, beavers from multiple source localities were released and now form viable populations. These programs differed in their reintroduction strategies, i.e., using pure subspecies vs. mixed source populations. This inhomogeneity in management actions generated ongoing debates regarding the origin of present beaver populations and appropriate management plans for the future. By sequencing of the mitochondrial control region and microsatellite genotyping of 235 beaver individuals from five selected regions in Germany, Switzerland, Luxembourg, and Belgium we show that beavers from at least four source origins currently form admixed, genetically diverse populations that spread across the study region. While regional occurrences of invasive North American beavers (n = 20) were found, all but one C. fiber bore the mitochondrial haplotype of the autochthonous western Evolutionary Significant Unit (ESU). Considering this, as well as the viability of admixed populations and the fact that the fusion of different lineages is already progressing in all studied regions, we argue that admixture between different beaver source populations should be generally accepted.

Class II HLA interactions modulate genetic risk for multiple sclerosis

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Dilthey, Alexander T; Xifara, Dionysia K; Ban, Maria; Shah, Tejas S; Patsopoulos, Nikolaos A; Alfredsson, Lars; Anderson, Carl A; Attfield, Katherine E; Baranzini, Sergio E; Barrett, Jeffrey; Binder, Thomas M C; Booth, David; Buck, Dorothea; Celius, Elisabeth G; Cotsapas, Chris; D’Alfonso, Sandra; Dendrou, Calliope A; Donnelly, Peter; Dubois, Bénédicte; Fontaine, Bertrand; Fugger, Lars; Goris, An; Gourraud, Pierre-Antoine; Graetz, Christiane; Hemmer, Bernhard; Hillert, Jan; Kockum, Ingrid; Leslie, Stephen; Lill, Christina M; Martinelli-Boneschi, Filippo; Oksenberg, Jorge R; Olsson, Tomas; Oturai, Annette; Saarela, Janna; Søndergaard, Helle Bach; Spurkland, Anne; Taylor, Bruce; Winkelmann, Juliane; Zipp, Frauke; Haines, Jonathan L; Pericak-Vance, Margaret A; Spencer, Chris C A; Stewart, Graeme; Hafler, David A; Ivinson, Adrian J; Harbo, Hanne F; Hauser, Stephen L; De Jager, Philip L; Compston, Alastair; McCauley, Jacob L; Sawcer, Stephen; McVean, Gil

2016-01-01

Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and class I protective alleles (HLA-A*02:01, HLA-B*44:02, HLA-B*38:01 and HLA-B*55:01), we find evidence for two interactions involving pairs of class II alleles: HLA-DQA1*01:01–HLA-DRB1*15:01 and HLA-DQB1*03:01–HLA-DQB1*03:02. We find no evidence for interactions between classical HLA alleles and non-HLA risk-associated variants and estimate a minimal effect of polygenic epistasis in modulating major risk alleles. PMID:26343388

Automobile Tire Assessment: A Multi-Criteria Approach

Directory of Open Access Journals (Sweden)

Ateekh-Ur-Rehman

2017-02-01

Full Text Available In response to the present dynamic market, automobile manufacturing industries are constantly evaluating and improving their manufacturing strategies to stay competitive. It is also evident that they evaluate those strategies considering multiple criteria. In one such case, an automobile project manager has to ensure that the selected tire (among the available alternatives complies with the prospective automobile’s performance. This paper presents an approach for the assessment of alternative automobile tires taking into account multiple criteria, such as tire sustainability, tire road performance, environmental issues, tire purchase cost and tire road grip. The presented approach is quite helpful to any decision maker who is interested not only in ranking alternatives but also in establishing the superiority of an alternative over others. The approach also helps to specify the position of each alternative with respect to ideal solution. A case illustration is used to demonstrate an application of the approach.

Intuitionistic fuzzy evidential power aggregation operator and its application in multiple criteria decision-making

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Jiang, Wen; Wei, Boya

2018-02-01

The theory of intuitionistic fuzzy sets (IFS) is widely used for dealing with vagueness and the Dempster-Shafer (D-S) evidence theory has a widespread use in multiple criteria decision-making problems under uncertain situation. However, there are many methods to aggregate intuitionistic fuzzy numbers (IFNs), but the aggregation operator to fuse basic probability assignment (BPA) is rare. Power average (P-A) operator, as a powerful operator, is useful and important in information fusion. Motivated by the idea of P-A power, in this paper, a new operator based on the IFS and D-S evidence theory is proposed, which is named as intuitionistic fuzzy evidential power average (IFEPA) aggregation operator. First, an IFN is converted into a BPA, and the uncertainty is measured in D-S evidence theory. Second, the difference between BPAs is measured by Jousselme distance and a satisfying support function is proposed to get the support degree between each other effectively. Then the IFEPA operator is used for aggregating the original IFN and make a more reasonable decision. The proposed method is objective and reasonable because it is completely driven by data once some parameters are required. At the same time, it is novel and interesting. Finally, an application of developed models to the 'One Belt, One road' investment decision-making problems is presented to illustrate the effectiveness and feasibility of the proposed operator.

Multiple genetic origins of histidine-rich protein 2 gene deletion in Plasmodium falciparum parasites from Peru

Science.gov (United States)

Akinyi, Sheila; Hayden, Tonya; Gamboa, Dionicia; Torres, Katherine; Bendezu, Jorge; Abdallah, Joseph F.; Griffing, Sean M.; Quezada, Wilmer Marquiño; Arrospide, Nancy; De Oliveira, Alexandre Macedo; Lucas, Carmen; Magill, Alan J.; Bacon, David J.; Barnwell, John W.; Udhayakumar, Venkatachalam

2013-01-01

The majority of malaria rapid diagnostic tests (RDTs) detect Plasmodium falciparum histidine-rich protein 2 (PfHRP2), encoded by the pfhrp2 gene. Recently, P. falciparum isolates from Peru were found to lack pfhrp2 leading to false-negative RDT results. We hypothesized that pfhrp2-deleted parasites in Peru derived from a single genetic event. We evaluated the parasite population structure and pfhrp2 haplotype of samples collected between 1998 and 2005 using seven neutral and seven chromosome 8 microsatellite markers, respectively. Five distinct pfhrp2 haplotypes, corresponding to five neutral microsatellite-based clonal lineages, were detected in 1998-2001; pfhrp2 deletions occurred within four haplotypes. In 2003-2005, outcrossing among the parasite lineages resulted in eight population clusters that inherited the five pfhrp2 haplotypes seen previously and a new haplotype; pfhrp2 deletions occurred within four of these haplotypes. These findings indicate that the genetic origin of pfhrp2 deletion in Peru was not a single event, but likely occurred multiple times. PMID:24077522

Predictive value of testing for multiple genetic variants in multifactorial

NARCIS (Netherlands)

A.C.J.W. Janssens (Cécile); M.J. Khoury (Muin Joseph)

2009-01-01

textabstractMultifactorial diseases such as type 2 diabetes, osteoporosis, and cardiovascular disease are caused by a complex interplay of many genetic and nongenetic factors, each of which conveys a minor increase in the risk of disease. Unraveling the genetic origins of these diseases is

Genetics Home Reference: multiple epiphyseal dysplasia

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... Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Recessive multiple ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

[A review of multiple sclerosis (1). Presentation of a case].

Science.gov (United States)

Martinez-Altarriba, M C; Ramos-Campoy, O; Luna-Calcaño, I M; Arrieta-Antón, E

2015-01-01

Multiple sclerosis is a major demyelinating disease of the central nervous system. It has a significant economic and social impact. Its etiology is unclear, although there are several hypotheses, such as infections or genetics. In its pathophysiology, it seems that immune activation attacks the myelin sheath, causing a progressive and irreversible axonal degeneration. The disease produces a variety of symptoms, and diagnosis requires fulfilling a number of criteria and the exclusion of other possible causes. The role of neuroimaging, especially MRI, is very important. Despite the availability of disease-modifying drugs, none of them are able to halt its progress, and the most useful drugs are those designed to alleviate the symptoms of outbreaks. Overall, multiple sclerosis requires a significant effort in research to clarify not only why and how it occurs, but also to develop of new measures to improve the life of affected patients. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

Multiple local minima in IMRT optimization based on dose-volume criteria

International Nuclear Information System (INIS)

Wu Qiuwen; Mohan, Radhe

2002-01-01

Multiple local minima traps are known to exist in dose-volume and dose-response objective functions. Nevertheless, their presence and consequences are not considered impediments in finding satisfactory solutions in routine optimization of IMRT plans using gradient methods. However, there is often a concern that a significantly superior solution may exist unbeknownst to the planner and that the optimization process may not be able to reach it. We have investigated the soundness of the assumption that the presence of multiple minima traps can be ignored. To find local minima, we start the optimization process a large number of times with random initial intensities. We investigated whether the occurrence of local minima depends upon the choice of the objective function parameters and the number of variables and whether their existence is an impediment in finding a satisfactory solution. To learn about the behavior of multiple minima, we first used a symmetric cubic phantom containing a cubic target and an organ-at-risk surrounding it to optimize the beam weights of two pairs of parallel-opposed beams using a gradient technique. The phantom studies also served to test our software. Objective function parameters were chosen to ensure that multiple minima would exist. Data for 500 plans, optimized with random initial beam weights, were analyzed. The search process did succeed in finding the local minima and showed that the number of minima depends on the parameters of the objective functions. It was also found that the consequences of local minima depended on the number of beams. We further searched for the multiple minima in intensity-modulated treatment plans for a head-and-neck case and a lung case. In addition to the treatment plan scores and the dose-volume histograms, we examined the dose distributions and intensity patterns. We did not find any evidence that multiple local minima affect the outcome of optimization using gradient techniques in any clinically

Multiple-clone infections of Plasmodium vivax: definition of a panel of markers for molecular epidemiology.

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de Souza, Aracele M; de Araújo, Flávia C F; Fontes, Cor J F; Carvalho, Luzia H; de Brito, Cristiana F A; de Sousa, Taís N

2015-08-25

Plasmodium vivax infections commonly contain multiple genetically distinct parasite clones. The detection of multiple-clone infections depends on several factors, such as the accuracy of the genotyping method, and the type and number of the molecular markers analysed. Characterizing the multiplicity of infection has broad implications that range from population genetic studies of the parasite to malaria treatment and control. This study compared and evaluated the efficiency of neutral and non-neutral markers that are widely used in studies of molecular epidemiology to detect the multiplicity of P. vivax infection. The performance of six markers was evaluated using 11 mixtures of DNA with well-defined proportions of two different parasite genotypes for each marker. These mixtures were generated by mixing cloned PCR products or patient-derived genomic DNA. In addition, 51 samples of natural infections from the Brazil were genotyped for all markers. The PCR-capillary electrophoresis-based method was used to permit direct comparisons among the markers. The criteria for differentiating minor peaks from artifacts were also evaluated. The analysis of DNA mixtures showed that the tandem repeat MN21 and the polymorphic blocks 2 (msp1B2) and 10 (msp1B10) of merozoite surface protein-1 allowed for the estimation of the expected ratio of both alleles in the majority of preparations. Nevertheless, msp1B2 was not able to detect the majority of multiple-clone infections in field samples; it identified only 6 % of these infections. The merozoite surface protein-3 alpha and microsatellites (PvMS6 and PvMS7) did not accurately estimate the relative clonal proportions in artificial mixtures, but the microsatellites performed well in detecting natural multiple-clone infections. Notably, the use of a less stringent criterion to score rare alleles significantly increased the sensitivity of the detection of multi-clonal infections. Depending on the type of marker used, a considerable

Defining conservation units in a stocking-induced genetic melting pot: unraveling native and multiple exotic genetic imprints of recent and historical secondary contact in Adriatic grayling.

Science.gov (United States)

Meraner, Andreas; Cornetti, Luca; Gandolfi, Andrea

2014-04-01

The definition of conservation units is crucial for the sustainable management of endangered species, though particularly challenging when recent and past anthropogenic and natural gene flow might have played a role. The conservation of the European grayling, Thymallus thymallus, is particularly complex in its southern distribution area, where the Adriatic evolutionary lineage is endangered by a long history of anthropogenic disturbance, intensive stocking and potentially widespread genetic introgression. We provide mtDNA sequence and microsatellite data of 683 grayling from 30 sites of Adriatic as well as Danubian and Atlantic origin. We apply Bayesian clustering and Approximate Bayesian Computation (ABC) to detect microgeographic population structure and to infer the demographic history of the Adriatic populations, to define appropriate conservation units. Varying frequencies of indigenous genetic signatures of the Adriatic grayling were revealed, spanning from marginal genetic introgression to the collapse of native gene pools. Genetic introgression involved multiple exotic source populations of Danubian and Atlantic origin, thus evidencing the negative impact of few decades of stocking. Within the Adige River system, a contact zone of western Adriatic and eastern Danubian populations was detected, with ABC analyses suggesting a historical anthropogenic origin of eastern Adige populations, most likely founded by medieval translocations. Substantial river-specific population substructure within the Adriatic grayling Evolutionary Significant Unit points to the definition of different conservation units. We finally propose a catalog of management measures, including the legal prohibition of stocking exotic grayling and the use of molecular markers in supportive- and captive-breeding programs.

Achondroplasia and multiple-suture craniosynostosis.

Science.gov (United States)

Albino, Frank P; Wood, Benjamin C; Oluigbo, Chima O; Lee, Angela C; Oh, Albert K; Rogers, Gary F

2015-01-01

Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or syndromic forms of craniosynostosis. Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia. We report an infant with achondroplasia who developed progressive multiple-suture craniosynostosis to discuss the genetic link between these clinical entities and to describe the technical challenges associated with the operative management.

Multi-Criteria Analysis for Solar Farm Location Suitability

Science.gov (United States)

Mierzwiak, Michal; Calka, Beata

2017-12-01

Currently the number of solar farms, as a type of renewable sources of energy, is growing rapidly. Photovoltaic power stations have many advantages, which is an incentive for their building and development. Solar energy is readily available and inexhaustible, and its production is environmentally friendly. In the present study multiple environmental and economic criteria were taken into account to select a potential photovoltaic farm location, with particular emphasis on: protected areas, land cover, solar radiation, slope angle, proximity to roads, built-up areas, and power lines. Advanced data analysis were used because of the multiplicity of criteria and their diverse influence on the choice of a potential location. They included the spatial analysis, the Weighted Linear Combination Technique (WLC), and the Analytic Hierarchy Process (AHP) as a decisionmaking method. The analysis was divided into two stages. In the first one, the areas where the location of solar farms was not possible were excluded. In the second one, the best locations meeting all environmental and economic criteria were selected. The research was conducted for the Legionowo District, using data from national surveying and mapping resources such as: BDOT10k (Database of Topographic Objects), NMT (Numerical Terrain Model), and lands and buildings register. Finally, several areas meeting the criteria were chosen. The research deals with solar farms with up to 40 kW power. The results of the study are presented as thematic maps. The advantage of the method is its versatility. It can be used not only for any area, but with little modification of the criteria, it can also be applied to choose a location for wind farms.

Relative accuracy of spatial predictive models for lynx Lynx canadensis derived using logistic regression-AIC, multiple criteria evaluation and Bayesian approaches

Directory of Open Access Journals (Sweden)

Shelley M. ALEXANDER

2009-02-01

Full Text Available We compared probability surfaces derived using one set of environmental variables in three Geographic Information Systems (GIS-based approaches: logistic regression and Akaike’s Information Criterion (AIC, Multiple Criteria Evaluation (MCE, and Bayesian Analysis (specifically Dempster-Shafer theory. We used lynx Lynx canadensis as our focal species, and developed our environment relationship model using track data collected in Banff National Park, Alberta, Canada, during winters from 1997 to 2000. The accuracy of the three spatial models were compared using a contingency table method. We determined the percentage of cases in which both presence and absence points were correctly classified (overall accuracy, the failure to predict a species where it occurred (omission error and the prediction of presence where there was absence (commission error. Our overall accuracy showed the logistic regression approach was the most accurate (74.51%. The multiple criteria evaluation was intermediate (39.22%, while the Dempster-Shafer (D-S theory model was the poorest (29.90%. However, omission and commission error tell us a different story: logistic regression had the lowest commission error, while D-S theory produced the lowest omission error. Our results provide evidence that habitat modellers should evaluate all three error measures when ascribing confidence in their model. We suggest that for our study area at least, the logistic regression model is optimal. However, where sample size is small or the species is very rare, it may also be useful to explore and/or use a more ecologically cautious modelling approach (e.g. Dempster-Shafer that would over-predict, protect more sites, and thereby minimize the risk of missing critical habitat in conservation plans[Current Zoology 55(1: 28 – 40, 2009].

Use of Multiple Linear Regression Models for Setting Water Quality Criteria for Copper: A Complementary Approach to the Biotic Ligand Model.

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Brix, Kevin V; DeForest, David K; Tear, Lucinda; Grosell, Martin; Adams, William J

2017-05-02

Biotic Ligand Models (BLMs) for metals are widely applied in ecological risk assessments and in the development of regulatory water quality guidelines in Europe, and in 2007 the United States Environmental Protection Agency (USEPA) recommended BLM-based water quality criteria (WQC) for Cu in freshwater. However, to-date, few states have adopted BLM-based Cu criteria into their water quality standards on a state-wide basis, which appears to be due to the perception that the BLM is too complicated or requires too many input variables. Using the mechanistic BLM framework to first identify key water chemistry parameters that influence Cu bioavailability, namely dissolved organic carbon (DOC), pH, and hardness, we developed Cu criteria using the same basic methodology used by the USEPA to derive hardness-based criteria but with the addition of DOC and pH. As an initial proof of concept, we developed stepwise multiple linear regression (MLR) models for species that have been tested over wide ranges of DOC, pH, and hardness conditions. These models predicted acute Cu toxicity values that were within a factor of ±2 in 77% to 97% of tests (5 species had adequate data) and chronic Cu toxicity values that were within a factor of ±2 in 92% of tests (1 species had adequate data). This level of accuracy is comparable to the BLM. Following USEPA guidelines for WQC development, the species data were then combined to develop a linear model with pooled slopes for each independent parameter (i.e., DOC, pH, and hardness) and species-specific intercepts using Analysis of Covariance. The pooled MLR and BLM models predicted species-specific toxicity with similar precision; adjusted R 2 and R 2 values ranged from 0.56 to 0.86 and 0.66-0.85, respectively. Graphical exploration of relationships between predicted and observed toxicity, residuals and observed toxicity, and residuals and concentrations of key input parameters revealed many similarities and a few key distinctions between the

Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridization reduce multiple gestation rate by single fresh blastocyst transfer?

Science.gov (United States)

Sills, Eric Scott; Yang, Zhihong; Walsh, David J; Salem, Shala A

2012-09-01

The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method. Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach. Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice. As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also

Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia

Institute of Scientific and Technical Information of China (English)

Jinsong Tang; Fan He; Fengyu Zhang; Yin Yao Shugart; Chunyu Liu; Yanqing Tang; Raymond C.K.Chan; Chuan-Yue Wang; Yong-Gang Yao; Xiaogang Chen; Yu Fan; Hong Li; Qun Xiang; Deng-Feng Zhang; Zongchang Li; Ying He; Yanhui Liao; Ya Wang

2017-01-01

Schizophrenia is a common disorder with a high heritability,but its genetic architecture is still elusive.We implemented whole-genome sequencing (WGS) analysis of 8 families with monozygotic (MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations (DNMs) or inherited variants with susceptibility to schizophrenia.Eight non-synonymous DNMs (including one splicing site) were identified and shared by twins,which were either located in previously reported schizophrenia risk genes (p.V24689I mutation in TTN,p.S2506T mutation in GCN1L1,IVS3+1G ＞ T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis.By searching the inherited rare damaging or loss-of-function (LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes,we were able to distill genetic alterations in several schizophrenia risk genes,including GAD1,PLXNA2,RELN and FEZ1.Four inherited copy number variations (CNVs;including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families,respectively.Most of families carried both missense DNMs and inherited risk variants,which might suggest that DNMs,inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility.Our results support that schizophrenia is caused by a combination of multiple genetic factors,with each DNM/variant showing a relatively small effect size.

Development of design window evaluation and display system. 2. Confirmations of the basic performance of genetic algorithm

International Nuclear Information System (INIS)

Murakami, Satoshi; Muramatsu, Toshiharu

2003-05-01

A large- scale sodium-cooled fast breeder reactor in feasibility studies on commercialized fast reactors which has a tendency of consideration of through simplified and compacted system is being investigated, however special attention should be paid to thermohydraulic designs for a gas entrainment behavior from free surfaces, a flow-induced vibration of in-vessel components, a thermal shock for various structures due to high-speed coolant flows, nonsymmetrical coolant flows, etc. in the reactor vessel. As thus a lot of thermal-hydraulic issues relate to each other complicatedly on the reactor designs, multiple-criteria decision-making on the understanding of relationship among thermal-hydraulic issues is indispensable to design the reactor efficiently. Genetic Algorithm (GA), which is one of the methods for multiple-criteria decision-making, was applied to the typical simple objective optimization problems and then was confirmed its basic performance. From the analyses, the following results have been obtained. (1) In the unimodal optimization problem, it was confirmed that GA is capable of sufficient searching ability. (2) It was confirmed that GA can be also applied to the discrete optimization problems. (3) In the case of applying GA to the combinational optimization problem, the searching efficiency is improved better by increasing the number of experiment times than the maximum of generation. (4) In the case of applying Ga to the multimodal optimization problem, the searching ability is improved by using the two genetic operators (I.e., the mutation, and the elite strategy) at the same time. (author)

International Working Group consensus response evaluation criteria in lymphoma (RECIL 2017)

DEFF Research Database (Denmark)

Younes, A; Hilden, P; Coiffier, B

2017-01-01

of malignancies, including solid tumors and lymphoma. Furthermore, with the advances in genome sequencing, new "basket" clinical trial designs have emerged that select patients based on the presence of specific genetic alterations across different types of solid tumors and lymphoma. The standard response criteria...... enrolled on 10 multicenter clinical trials and developed new lymphoma response criteria (RECIL 2017). We demonstrate that assessment of tumor burden in lymphoma clinical trials can use the sum of longest diameters of a maximum of three target lesions. Furthermore, we introduced a new provisional category...

Potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement process of orphan drugs.

Science.gov (United States)

Kolasa, Katarzyna; Zwolinski, Krzysztof M; Kalo, Zoltan; Hermanowski, Tomasz

2016-03-10

The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. A four step approach was designed. Firstly, a systematic literature review was conducted to select the MCDA criteria. Secondly, a database of orphan drugs was established. Thirdly, health technology appraisals (HTA recommendations) were categorized and an MCDA appraisal was conducted. Finally, a comparison of HTA and MCDA outcomes was carried out. An MCDA outcome was considered positive if more than 50% of the maximum number of points was reached (base case). In the sensitivity analysis, 25% and 75% thresholds were tested as well. Out of 2242 publications, 23 full-text articles were included. The final MCDA tool consisted of ten criteria. In total, 27 distinctive drug-indication pairs regarding 21 drugs were used for the study. Six negative and 21 positive HTA recommendations were issued. In the base case, there were 19 positive MCDA outcomes. Of the 27 cases, there were 12 disagreements between the HTA and MCDA outcomes, the majority of which related to positive HTA guidance for negative MCDA outcomes. All drug-indication pairs with negative HTA recommendations were appraised positively in the MCDA framework. Economic details were available for 12 cases, of which there were 9 positive MCDA outcomes. Amongst the 12 drug-indication pairs, two were negatively appraised in the HTA process, with positive MCDA guidance, and two were appraised in the opposite direction. An MCDA approach may lead to different P&R outcomes compared to a standard HTA process. On the one hand, enrichment of the list of decision making criteria means further scrutiny of a given health technology and as such increases the odds of a negative P&R outcome. On the other hand, it may uncover additional values and as such increase the odds of positive P&R outcomes.

Genetic variability and heritability studies of some reproductive traits ...

African Journals Online (AJOL)

GRACE

2006-07-03

Jul 3, 2006 ... The success of most crop improvement programs largely depends upon the genetic variability and the heritability of desirable traits. The magnitude and type of genetic variability help the breeder to determine the selection criteria and breeding schemes to be used for improvement purposes. A screen.

Multispecies genetic objectives in spatial conservation planning.

Science.gov (United States)

Nielsen, Erica S; Beger, Maria; Henriques, Romina; Selkoe, Kimberly A; von der Heyden, Sophie

2017-08-01

Growing threats to biodiversity and global alteration of habitats and species distributions make it increasingly necessary to consider evolutionary patterns in conservation decision making. Yet, there is no clear-cut guidance on how genetic features can be incorporated into conservation-planning processes, despite multiple molecular markers and several genetic metrics for each marker type to choose from. Genetic patterns differ between species, but the potential tradeoffs among genetic objectives for multiple species in conservation planning are currently understudied. We compared spatial conservation prioritizations derived from 2 metrics of genetic diversity (nucleotide and haplotype diversity) and 2 metrics of genetic isolation (private haplotypes and local genetic differentiation) in mitochondrial DNA of 5 marine species. We compared outcomes of conservation plans based only on habitat representation with plans based on genetic data and habitat representation. Fewer priority areas were selected for conservation plans based solely on habitat representation than on plans that included habitat and genetic data. All 4 genetic metrics selected approximately similar conservation-priority areas, which is likely a result of prioritizing genetic patterns across a genetically diverse array of species. Largely, our results suggest that multispecies genetic conservation objectives are vital to creating protected-area networks that appropriately preserve community-level evolutionary patterns. © 2016 Society for Conservation Biology.

Genetics Home Reference: isolated ectopia lentis

Science.gov (United States)

... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . Enlarge Frequency The prevalence ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...

Neurofibromatosis type 1 and multiple sclerosis: Genetically related ...

African Journals Online (AJOL)

Solaf M. Elsayed

2016-10-25

Oct 25, 2016 ... a Genetics Unit, Children's Hospital, Ain Shams University, Egypt b Neurology Department ... Through the past 6 months, she started to develop short term memory loss with intact long term memory. There was no other motor ...

Value-Based Assessment of New Medical Technologies: Towards a Robust Methodological Framework for the Application of Multiple Criteria Decision Analysis in the Context of Health Technology Assessment.

Science.gov (United States)

Angelis, Aris; Kanavos, Panos

2016-05-01

In recent years, multiple criteria decision analysis (MCDA) has emerged as a likely alternative to address shortcomings in health technology assessment (HTA) by offering a more holistic perspective to value assessment and acting as an alternative priority setting tool. In this paper, we argue that MCDA needs to subscribe to robust methodological processes related to the selection of objectives, criteria and attributes in order to be meaningful in the context of healthcare decision making and fulfil its role in value-based assessment (VBA). We propose a methodological process, based on multi-attribute value theory (MAVT) methods comprising five distinct phases, outline the stages involved in each phase and discuss their relevance in the HTA process. Importantly, criteria and attributes need to satisfy a set of desired properties, otherwise the outcome of the analysis can produce spurious results and misleading recommendations. Assuming the methodological process we propose is adhered to, the application of MCDA presents three very distinct advantages to decision makers in the context of HTA and VBA: first, it acts as an instrument for eliciting preferences on the performance of alternative options across a wider set of explicit criteria, leading to a more complete assessment of value; second, it allows the elicitation of preferences across the criteria themselves to reflect differences in their relative importance; and, third, the entire process of preference elicitation can be informed by direct stakeholder engagement, and can therefore reflect their own preferences. All features are fully transparent and facilitate decision making.

Use of multiple-trait animal models for genetic evaluation of milk, fat and protein lactation yields of dairy cattle in Belgium

Directory of Open Access Journals (Sweden)

Pierre Coenraets

1997-01-01

Full Text Available Comparison of computation time between single-trait and multiple-trait evaluations showed that with the use of the canonicat transformation associated with multiple diagonalization of (covariance matrices, multiple-trait analysis for milk, fat and protein yields is not more expensive than three single-trait analyzes. Rank correlations between breeding values for 54,820 cows with records (for their 1,406 sires estimated with the single-trait and multiple-trait models were over .98 (.99 in fat yield and over .99 (.99 in milk and protein yields. The relative gain expressed as reduction in mean prediction error variance was 3% (1% in milk yield, 6% (3% in fat yield, and .4% (.2% in protein yield for cows (for sires. Relative genetic gains were 3% (1%, 6% (2% and .5% (.2% respectively in milk, fat and protein yields for cows (for sires. The use of multiple-trait models bas therefore the advantages of improved precision and reduced selection bics. Multiple-trait analysis could be extended for the analyzes of test-day records. Results show that this or similar multiple-trait animal model could be implemented immediately in Belgium at low computing cost, using the proposed algorithme and could be the first step to new, more advanced evaluation methods.

Genetic complexity and multiple infections with more Parvovirus species in naturally infected cats

Directory of Open Access Journals (Sweden)

Battilani Mara

2011-03-01

Full Text Available Abstract Parvoviruses of carnivores include three closely related autonomous parvoviruses: canine parvovirus (CPV, feline panleukopenia virus (FPV and mink enteritis virus (MEV. These viruses cause a variety of serious diseases, especially in young patients, since they have a remarkable predilection for replication in rapidly dividing cells. FPV is not the only parvovirus species which infects cats; in addition to MEV, the new variants of canine parvovirus, CPV-2a, 2b and 2c have also penetrated the feline host-range, and they are able to infect and replicate in cats, causing diseases indistinguishable from feline panleukopenia. Furthermore, as cats are susceptible to both CPV-2 and FPV viruses, superinfection and co-infection with multiple parvovirus strains may occur, potentially facilitating recombination and high genetic heterogeneity. In the light of the importance of cats as a potential source of genetic diversity for parvoviruses and, since feline panleukopenia virus has re-emerged as a major cause of mortality in felines, the present study has explored the molecular characteristics of parvovirus strains circulating in cat populations. The most significant findings reported in this study were (a the detection of mixed infection FPV/CPV with the presence of one parvovirus variant which is a true intermediate between FPV/CPV and (b the quasispecies cloud size of one CPV sample variant 2c. In conclusion, this study provides new important results about the evolutionary dynamics of CPV infections in cats, showing that CPV has presumably started a new process of readaptation in feline hosts.

The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks

Science.gov (United States)

2012-01-01

Alcoholism is a significant public health problem. A picture of the genetic architecture underlying alcohol-related phenotypes is emerging from genome-wide association studies and work on genetically tractable model organisms. PMID:22348705

A Genetic Epidemiological Study of Behavioral Traits

NARCIS (Netherlands)

N. Amin (Najaf)

2011-01-01

textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to

Genetic counseling and testing for gynecological cancers ...

African Journals Online (AJOL)

undergraduates of universities in Ibadan to genetic counseling and testing (GCT) for ... questionnaire, information on their understanding of GCT, perception of implications, and ... by genetic counseling from suitably trained health-care providers and genetic testing of selected high-risk individuals ..... Multiple sexual partners.

A note on multi-criteria inventory classification using weighted linear optimization

Directory of Open Access Journals (Sweden)

Rezaei Jafar

2010-01-01

Full Text Available Recently, Ramanathan (R., Ramanathan, ABC inventory classification with multiple-criteria using weighted linear optimization, Computer and Operations Research, 33(3 (2006 695-700 introduced a simple DEA-like model to classify inventory items on the basis of multiple criteria. However, the classification results produced by Ramanathan are not consistent with the domination concept encouraged some researchers to extend his model. In this paper, we produce the correct results and compare them to the original results and those of the extended models. We also improve this model to rank items with an optimal score of 1 using a cross-efficiency technique. The classification results are considerably different from the original results. Despite the fact that the correct results are obtained in this paper, there is no significant difference between the original model and its extensions, while the original model is more simple and suitable for the situations in which decision-maker cannot assign specific weights to individual criteria.

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

Science.gov (United States)

Hampel, Heather; Bennett, Robin L; Buchanan, Adam; Pearlman, Rachel; Wiesner, Georgia L

2015-01-01

referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.

Optimal planning approaches with multiple impulses for rendezvous based on hybrid genetic algorithm and control method

Directory of Open Access Journals (Sweden)

JingRui Zhang

2015-03-01

Full Text Available In this article, we focus on safe and effective completion of a rendezvous and docking task by looking at planning approaches and control with fuel-optimal rendezvous for a target spacecraft running on a near-circular reference orbit. A variety of existent practical path constraints are considered, including the constraints of field of view, impulses, and passive safety. A rendezvous approach is calculated by using a hybrid genetic algorithm with those constraints. Furthermore, a control method of trajectory tracking is adopted to overcome the external disturbances. Based on Clohessy–Wiltshire equations, we first construct the mathematical model of optimal planning approaches of multiple impulses with path constraints. Second, we introduce the principle of hybrid genetic algorithm with both stronger global searching ability and local searching ability. We additionally explain the application of this algorithm in the problem of trajectory planning. Then, we give three-impulse simulation examples to acquire an optimal rendezvous trajectory with the path constraints presented in this article. The effectiveness and applicability of the tracking control method are verified with the optimal trajectory above as control objective through the numerical simulation.

One Novel Multiple-Target Plasmid Reference Molecule Targeting Eight Genetically Modified Canola Events for Genetically Modified Canola Detection.

Science.gov (United States)

Li, Zhuqing; Li, Xiang; Wang, Canhua; Song, Guiwen; Pi, Liqun; Zheng, Lan; Zhang, Dabing; Yang, Litao

2017-09-27

Multiple-target plasmid DNA reference materials have been generated and utilized as good substitutes of matrix-based reference materials in the analysis of genetically modified organisms (GMOs). Herein, we report the construction of one multiple-target plasmid reference molecule, pCAN, which harbors eight GM canola event-specific sequences (RF1, RF2, MS1, MS8, Topas 19/2, Oxy235, RT73, and T45) and a partial sequence of the canola endogenous reference gene PEP. The applicability of this plasmid reference material in qualitative and quantitative PCR assays of the eight GM canola events was evaluated, including the analysis of specificity, limit of detection (LOD), limit of quantification (LOQ), and performance of pCAN in the analysis of various canola samples, etc. The LODs are 15 copies for RF2, MS1, and RT73 assays using pCAN as the calibrator and 10 genome copies for the other events. The LOQ in each event-specific real-time PCR assay is 20 copies. In quantitative real-time PCR analysis, the PCR efficiencies of all event-specific and PEP assays are between 91% and 97%, and the squared regression coefficients (R 2 ) are all higher than 0.99. The quantification bias values varied from 0.47% to 20.68% with relative standard deviation (RSD) from 1.06% to 24.61% in the quantification of simulated samples. Furthermore, 10 practical canola samples sampled from imported shipments in the port of Shanghai, China, were analyzed employing pCAN as the calibrator, and the results were comparable with those assays using commercial certified materials as the calibrator. Concluding from these results, we believe that this newly developed pCAN plasmid is one good candidate for being a plasmid DNA reference material in the detection and quantification of the eight GM canola events in routine analysis.

Reducing bias in population and landscape genetic inferences: the effects of sampling related individuals and multiple life stages.

Science.gov (United States)

Peterman, William; Brocato, Emily R; Semlitsch, Raymond D; Eggert, Lori S

2016-01-01

In population or landscape genetics studies, an unbiased sampling scheme is essential for generating accurate results, but logistics may lead to deviations from the sample design. Such deviations may come in the form of sampling multiple life stages. Presently, it is largely unknown what effect sampling different life stages can have on population or landscape genetic inference, or how mixing life stages can affect the parameters being measured. Additionally, the removal of siblings from a data set is considered best-practice, but direct comparisons of inferences made with and without siblings are limited. In this study, we sampled embryos, larvae, and adult Ambystoma maculatum from five ponds in Missouri, and analyzed them at 15 microsatellite loci. We calculated allelic richness, heterozygosity and effective population sizes for each life stage at each pond and tested for genetic differentiation (F ST and D C ) and isolation-by-distance (IBD) among ponds. We tested for differences in each of these measures between life stages, and in a pooled population of all life stages. All calculations were done with and without sibling pairs to assess the effect of sibling removal. We also assessed the effect of reducing the number of microsatellites used to make inference. No statistically significant differences were found among ponds or life stages for any of the population genetic measures, but patterns of IBD differed among life stages. There was significant IBD when using adult samples, but tests using embryos, larvae, or a combination of the three life stages were not significant. We found that increasing the ratio of larval or embryo samples in the analysis of genetic distance weakened the IBD relationship, and when using D C , the IBD was no longer significant when larvae and embryos exceeded 60% of the population sample. Further, power to detect an IBD relationship was reduced when fewer microsatellites were used in the analysis.

Reducing bias in population and landscape genetic inferences: the effects of sampling related individuals and multiple life stages

Directory of Open Access Journals (Sweden)

William Peterman

2016-03-01

Full Text Available In population or landscape genetics studies, an unbiased sampling scheme is essential for generating accurate results, but logistics may lead to deviations from the sample design. Such deviations may come in the form of sampling multiple life stages. Presently, it is largely unknown what effect sampling different life stages can have on population or landscape genetic inference, or how mixing life stages can affect the parameters being measured. Additionally, the removal of siblings from a data set is considered best-practice, but direct comparisons of inferences made with and without siblings are limited. In this study, we sampled embryos, larvae, and adult Ambystoma maculatum from five ponds in Missouri, and analyzed them at 15 microsatellite loci. We calculated allelic richness, heterozygosity and effective population sizes for each life stage at each pond and tested for genetic differentiation (FST and DC and isolation-by-distance (IBD among ponds. We tested for differences in each of these measures between life stages, and in a pooled population of all life stages. All calculations were done with and without sibling pairs to assess the effect of sibling removal. We also assessed the effect of reducing the number of microsatellites used to make inference. No statistically significant differences were found among ponds or life stages for any of the population genetic measures, but patterns of IBD differed among life stages. There was significant IBD when using adult samples, but tests using embryos, larvae, or a combination of the three life stages were not significant. We found that increasing the ratio of larval or embryo samples in the analysis of genetic distance weakened the IBD relationship, and when using DC, the IBD was no longer significant when larvae and embryos exceeded 60% of the population sample. Further, power to detect an IBD relationship was reduced when fewer microsatellites were used in the analysis.

A Multi-Criteria Approach to Dry Port Location in Developing Economies with Application to Vietnam

Directory of Open Access Journals (Sweden)

Lam Canh Nguyen

2016-03-01

Full Text Available This paper presents a conceptual framework for the inclusion of multiple criteria in the evaluation of dry port location in developing countries from a multiple stakeholder perspective. We present the framework in four steps. The first step encompasses preliminary research to filter the alternative locations for dry port development. In the second step, the stakeholders are clustered in three groups: dry port users, dry port service providers and the wider community. Then, we present the sub-criteria related to dry port location including the associated measuring methods. The third step includes an explanation on the methods used for weighing these criteria and sub-criteria. A multi-criteria analysis is carried out in the final step. We apply the methodological framework to Vietnam. The location of a new dry port project in Vinh Phuc province will be evaluated against two existing inland clearance depots (ICD in Lao Cai and Phu Tho province.

Genetic parameters of eventing horse competition in France

Directory of Open Access Journals (Sweden)

Chanu Isabelle

2001-03-01

Full Text Available Abstract Genetic parameters of eventing horse competitions were estimated. About 13 000 horses, 30 000 annual results during 17 years and 110 000 starts in eventing competitions during 8 years were recorded. The measures of performance were logarithmic transformations of annual earnings, annual earnings per start, and annual earnings per place, and underlying variables responsible for ranks in each competition. Heritabilities were low (0.11/0.17 for annual results, 0.07 for ranks. Genetic correlations between criteria were high (greater than 0.90 except between ranks and earnings per place (0.58 or per start (0.67. Genetic correlations between ages (from 5 to 10 years old were also high (more than 0.85 and allow selection on early performances. The genetic correlation between the results in different levels of competition (high/international and low/amateur was near 1. Genetic correlations of eventing with other disciplines, which included partial aptitude needed for eventing, were very low for steeplechase races (0.18 and moderate with sport: jumping (0.45, dressage (0.58. The results suggest that selection on jumping performance will lead to some positive correlated response for eventing performance, but much more response could be obtained if a specific breeding objective and selection criteria were developed for eventing.

Single and multiple transverse fracture initiation from horizontal wells

Energy Technology Data Exchange (ETDEWEB)

Crosby, D.G.; Rahman, M.M.; Rahman, M.K.; Rahman, S.S. [School of Petroleum Engineering, The University of New South Wales, 2052 Sydney (Australia)

2002-08-01

The results of an analytical and experimental study of the initiation of transverse fractures from horizontal wells are presented. Analytical criteria for the initiation of single hydraulic fracture are reviewed, and criterion for initiation of multiple hydraulic fractures was developed by modification of the existing Drucker and Prager criterion for single hydraulic fracture initiation. The developed criterion for multiple fracture initiation was validated by comparisons with actual hydraulic fracture initiation pressures, which were obtained from scaled laboratory experiments and numerical results from boundary element analysis. Other criteria are assessed against the experimental results. Experimentally obtained transverse fracture initiation pressures were found close to longitudinal fracture initiation pressures estimated from maximum tensile stress criterion and Hoek and Brown criterion. One possible explanation of this finding is presented. Results from Drucker and Prager criteria for single and multiple fracture initiation were, however, found closer to experimental values. Therefore, these criteria could be useful to engineers involved with hydraulic fracturing for predicting transverse fracture initiation pressures from horizontal wells drilled parallel to the minimum horizontal in-situ stress.

Genetic aspects and classification of important Canadian uranium deposits

International Nuclear Information System (INIS)

McMillan, R.H.

1978-01-01

A classification of important uranium deposits which utilizes both genetic and descriptive criteria is presented. The dual aspect is useful because, while the non-genetic nomenclature for the different deposit types is amenable to various interpretations, the critical characteristics of each deposit can be analyzed to clarify various genetic points. Although the classification is intended primarily for Canadian uranium deposits, most of the important deposit types known elsewhere can be accommodated. (auth)

Genetic aspects and classification of important Canadian uranium deposits

International Nuclear Information System (INIS)

McMillan, R.H.

1978-01-01

A classification of important uranium deposits which utilizes both genetic and descriptive criteria is presented. The dual aspect is useful because, while the non-genetic nomenclature for the different deposit types is amenable to various interpretations, the critical characteristics of each deposit type can be analyzed to clarify various genetic points. Although the classification is intended primarily for Canadian uranium deposits, most of the important deposit types known elsewhere can be accommodated. (author)

Visual detection of multiple genetically modified organisms in a capillary array.

Science.gov (United States)

Shao, Ning; Chen, Jianwei; Hu, Jiaying; Li, Rong; Zhang, Dabing; Guo, Shujuan; Hui, Junhou; Liu, Peng; Yang, Litao; Tao, Sheng-Ce

2017-01-31

There is an urgent need for rapid, low-cost multiplex methodologies for the monitoring of genetically modified organisms (GMOs). Here, we report a C[combining low line]apillary A[combining low line]rray-based L[combining low line]oop-mediated isothermal amplification for M[combining low line]ultiplex visual detection of nucleic acids (CALM) platform for the simple and rapid monitoring of GMOs. In CALM, loop-mediated isothermal amplification (LAMP) primer sets are pre-fixed to the inner surface of capillaries. The surface of the capillary array is hydrophobic while the capillaries are hydrophilic, enabling the simultaneous loading and separation of the LAMP reaction mixtures into each capillary by capillary forces. LAMP reactions in the capillaries are then performed in parallel, and the results are visually detected by illumination with a hand-held UV device. Using CALM, we successfully detected seven frequently used transgenic genes/elements and five plant endogenous reference genes with high specificity and sensitivity. Moreover, we found that measurements of real-world blind samples by CALM are consistent with results obtained by independent real-time PCRs. Thus, with an ability to detect multiple nucleic acids in a single easy-to-operate test, we believe that CALM will become a widely applied technology in GMO monitoring.

Signal Timing Optimization for Corridors with Multiple Highway-Rail Grade Crossings Using Genetic Algorithm

Directory of Open Access Journals (Sweden)

Yifeng Chen

2018-01-01

Full Text Available Safety and efficiency are two critical issues at highway-rail grade crossings (HRGCs and their nearby intersections. Standard traffic signal optimization programs are not designed to work on roadway networks that contain multiple HRGCs, because their underlying assumption is that the roadway traffic is in a steady-state. During a train event, steady-state conditions do not occur. This is particularly true for corridors that experience high train traffic (e.g., over 2 trains per hour. In this situation, the non-steady-state conditions predominate. This paper develops a simulation-based methodology for optimizing traffic signal timing plan on corridors of this kind. The primary goal is to maximize safety, and the secondary goal is to minimize delay. A Genetic Algorithm (GA was used as the optimization approach in the proposed methodology. A new transition preemption strategy for dual tracks (TPS_DT and a train arrival prediction model were integrated in the proposed methodology. An urban road network with multiple HRGCs in Lincoln, NE, was used as the study network. The microsimulation model VISSIM was used for evaluation purposes and was calibrated to local traffic conditions. A sensitivity analysis with different train traffic scenarios was conducted. It was concluded that the methodology can significantly improve both the safety and efficiency of traffic corridors with HRGCs.

The development of metacognitive-based genetic learning ...

African Journals Online (AJOL)

The development of metacognitive-based genetic learning Instruments at senior ... The results of the research are learning instrument product and textbook whose ... that these instruments have satisfied the criteria: very valid and very ideal.

Priority setting of health interventions: the need for multi-criteria decision analysis

Directory of Open Access Journals (Sweden)

Baltussen Rob

2006-08-01

Full Text Available Abstract Priority setting of health interventions is often ad-hoc and resources are not used to an optimal extent. Underlying problem is that multiple criteria play a role and decisions are complex. Interventions may be chosen to maximize general population health, to reduce health inequalities of disadvantaged or vulnerable groups, ad/or to respond to life-threatening situations, all with respect to practical and budgetary constraints. This is the type of problem that policy makers are typically bad at solving rationally, unaided. They tend to use heuristic or intuitive approaches to simplify complexity, and in the process, important information is ignored. Next, policy makers may select interventions for only political motives. This indicates the need for rational and transparent approaches to priority setting. Over the past decades, a number of approaches have been developed, including evidence-based medicine, burden of disease analyses, cost-effectiveness analyses, and equity analyses. However, these approaches concentrate on single criteria only, whereas in reality, policy makers need to make choices taking into account multiple criteria simultaneously. Moreover, they do not cover all criteria that are relevant to policy makers. Therefore, the development of a multi-criteria approach to priority setting is necessary, and this has indeed recently been identified as one of the most important issues in health system research. In other scientific disciplines, multi-criteria decision analysis is well developed, has gained widespread acceptance and is routinely used. This paper presents the main principles of multi-criteria decision analysis. There are only a very few applications to guide resource allocation decisions in health. We call for a shift away from present priority setting tools in health – that tend to focus on single criteria – towards transparent and systematic approaches that take into account all relevant criteria

Multi-criteria decision making approaches for green supply chains

NARCIS (Netherlands)

Banasik, Aleksander; Bloemhof-Ruwaard, Jacqueline M.; Kanellopoulos, Argyris; Claassen, G.D.H.; Vorst, van der Jack G.A.J.

2016-01-01

Designing Green Supply Chains (GSCs) requires complex decision-support models that can deal with multiple dimensions of sustainability while taking into account specific characteristics of products and their supply chain. Multi-Criteria Decision Making (MCDM) approaches can be used to quantify

Predictability of Genetic Interactions from Functional Gene Modules

Directory of Open Access Journals (Sweden)

Jonathan H. Young

2017-02-01

Full Text Available Characterizing genetic interactions is crucial to understanding cellular and organismal response to gene-level perturbations. Such knowledge can inform the selection of candidate disease therapy targets, yet experimentally determining whether genes interact is technically nontrivial and time-consuming. High-fidelity prediction of different classes of genetic interactions in multiple organisms would substantially alleviate this experimental burden. Under the hypothesis that functionally related genes tend to share common genetic interaction partners, we evaluate a computational approach to predict genetic interactions in Homo sapiens, Drosophila melanogaster, and Saccharomyces cerevisiae. By leveraging knowledge of functional relationships between genes, we cross-validate predictions on known genetic interactions and observe high predictive power of multiple classes of genetic interactions in all three organisms. Additionally, our method suggests high-confidence candidate interaction pairs that can be directly experimentally tested. A web application is provided for users to query genes for predicted novel genetic interaction partners. Finally, by subsampling the known yeast genetic interaction network, we found that novel genetic interactions are predictable even when knowledge of currently known interactions is minimal.

Producing genetic knowledge and citizenship through the Internet: mothers, pediatric genetics, and cybermedicine.

Science.gov (United States)

Schaffer, Rebecca; Kuczynski, Kristine; Skinner, Debra

2008-01-01

This article analyses data from a longitudinal, ethnographic study conducted in the United States to examine how 100 mothers of children with genetic disorders used the Internet to interpret, produce, and circulate genetic knowledge pertaining to their child's condition. We describe how they came to value their own experiential knowledge, helped shift the boundaries of what counts as authoritative knowledge, and assumed the role of genetic citizen, fighting for specific rights while shouldering and contesting concomitant duties and obligations. This exploration of e-health use contributes to our understanding of the social practices and power relations that cut across online and off-line worlds to co-produce genetic knowledge and genetic citizenship in multiple contexts.

Diagnosis of multiple system atrophy.

Science.gov (United States)

Palma, Jose-Alberto; Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio

2018-05-01

Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs. Copyright © 2017 Elsevier B.V. All rights reserved.

Sequential interactions of silver-silica nanocomposite (Ag-SiO2 NC) with cell wall, metabolism and genetic stability of Pseudomonas aeruginosa, a multiple antibiotic-resistant bacterium

Digital Repository Service at National Institute of Oceanography (India)

Anas, A.; Jiya, J.; Rameez, M.J.; Anand, P.B.; Anantharaman, M.R.; Nair, S.

The study was carried out to understand the effect of silver–silica nanocomposite (Ag-SiO sub(2)NC) on the cell wall integrity, metabolism and genetic stability of Pseudomonas aeruginosa, a multiple drug-resistant bacterium. Bacterial sensitivity...

Sequential interactions of silver-silica nanocomposite (Ag-SiO2NC) with cell wall, metabolism and genetic stability of Pseudomonas aeruginosa, a multiple antibiotic-resistant bacterium

Digital Repository Service at National Institute of Oceanography (India)

Anas, A.; Jiya, J.; Rameez, M.J.; Anand, P.B.; Anantharaman, M.R.; Nair, S.

The study was carried out to understand the effect of silver-silica nanocomposite (Ag-SiO sub(2)NC) on the cell wall integrity, metabolism and genetic stability of Pseudomonas aeruginosa, a multiple drug-resistant bacterium Bacterial sensitivity...

TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis

DEFF Research Database (Denmark)

Gregory, Adam P; Dendrou, Calliope A; Attfield, Kathrine E

2012-01-01

), but not with other autoimmune conditions such as rheumatoid arthritis, psoriasis and Crohn’s disease. By analysing MS GWAS data in conjunction with the 1000 Genomes Project data we provide genetic evidence that strongly implicates this SNP, rs1800693, as the causal variant in the TNFRSF1A region. We further...... make to disease risk has raised questions regarding their medical relevance. Here we have investigated a single nucleotide polymorphism (SNP) in the TNFRSF1A gene, that encodes tumour necrosis factor receptor 1 (TNFR1), which was discovered through GWAS to be associated with multiple sclerosis (MS...... substantiate this through functional studies showing that the MS risk allele directs expression of a novel, soluble form of TNFR1 that can block TNF. Importantly, TNF-blocking drugs can promote onset or exacerbation of MS, but they have proven highly efficacious in the treatment of autoimmune diseases...

Beyond clinical utility: The multiple values of DTC genetics

Directory of Open Access Journals (Sweden)

Mauro Turrini

2016-03-01

Full Text Available One point of consensus in the otherwise very controversial discussion about the benefits and dangers of DTC genetics in the health domain is the lack of substantial clinical utility. At the same time, both the empirical and conceptual literature indicate that health-related DTC tests can have value and utility outside of the clinic. We argue that a broader and multi-faceted conceptualization of utility and value would enrich the ethical and social discussion of DTC testing in several ways: First, looking at ways in which DTC testing can have personal and social value for users – in the form of entertainment, learning, or a way to relate to others – can help to explain why people still take DTC tests, and will, further down the line, foster a more nuanced understanding of secondary and tertiary uses of DTC test results (which could very well unearth new ethical and regulatory challenges. Second, considering the economic value and broader utility of DTC testing foregrounds wider social and political aspects than have been dominant in the ethical and regulatory debates surrounding DTC genetics so far. These wider political aspects include the profound power asymmetries that characterize the collection and use of personal genetic data in many contexts.

The PROMETHEE multiple criteria decision making analysis for selecting the best membrane prepared from sulfonated poly(ether ketone)s and poly(ether sulfone)s for proton exchange membrane fuel cell

International Nuclear Information System (INIS)

Nikouei, Mohammad Ali; Oroujzadeh, Maryam; Mehdipour-Ataei, Shahram

2017-01-01

Proton exchange membrane as the heart of fuel cell has been the topic of many research activities in recent years. Finding a suitable alternative for Nafion membranes is one of the most important issues of interest. This study is dedicated to sulfonated poly(ether ketone) and poly(ether sulfone) membranes. For synthesis of these two groups of polymers, two different isomeric biphenols (meta- and para-) were used and each group of membranes with three different degree of sulfonation (25, 35, and 45%) was synthesized. In this way, twelve different membrane samples were obtained and their properties were evaluated. Since each membrane had some strong and some weak points of properties in comparison to the other ones, using a rational analysis for choosing the best membrane between prepared samples was inevitable. For this purpose a PROMETHEE based multiple criteria decision making approach was applied and for evaluation of the weight of each criterion, Shannon entropy method was used. Final results showed that poly(ether ketone) membranes in selected criteria were better than poly(ether sulfone) membranes and as expected, membranes with the highest degree of sulfonation (45%) were placed at the top ranking levels. - Highlights: • Sulfonated poly(ether ketone)s and Poly(ether sulfone)s were synthesized. • Related membranes for PEMFC were prepared. • The properties of membranes were measured. • Multiple criteria decision making approach was used to ranking the membranes. • PROMETHEE based approach selected poly(ether ketone)s as better choices.

Using multi-criteria analysis of simulation models to understand complex biological systems

Science.gov (United States)

Maureen C. Kennedy; E. David. Ford

2011-01-01

Scientists frequently use computer-simulation models to help solve complex biological problems. Typically, such models are highly integrated, they produce multiple outputs, and standard methods of model analysis are ill suited for evaluating them. We show how multi-criteria optimization with Pareto optimality allows for model outputs to be compared to multiple system...

Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

Directory of Open Access Journals (Sweden)

E. B. Gómez García

2012-01-01

Full Text Available Cowden syndrome (CS is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any hereditary disease.

Integral criteria for large-scale multiple fingerprint solutions

Science.gov (United States)

Ushmaev, Oleg S.; Novikov, Sergey O.

2004-08-01

We propose the definition and analysis of the optimal integral similarity score criterion for large scale multmodal civil ID systems. Firstly, the general properties of score distributions for genuine and impostor matches for different systems and input devices are investigated. The empirical statistics was taken from the real biometric tests. Then we carry out the analysis of simultaneous score distributions for a number of combined biometric tests and primary for ultiple fingerprint solutions. The explicit and approximate relations for optimal integral score, which provides the least value of the FRR while the FAR is predefined, have been obtained. The results of real multiple fingerprint test show good correspondence with the theoretical results in the wide range of the False Acceptance and the False Rejection Rates.

Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans

NARCIS (Netherlands)

Verloop, H.; Dekkers, O.M.; Peeters, R.P.; Schoones, J.W.; Smit, J.W.

2014-01-01

Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple

Genetic relationships between calving interval and linear type traits in

African Journals Online (AJOL)

Genetic correlations between first calving interval (CI) and linear type traits in South African Holstein and Jersey cattle were estimated to assess the possibility of using type information as selection criteria for CI. All linear type traits routinely evaluated under the National Genetic Evaluation Programme (18 for Jersey and 17 ...

Invasion genetics of a freshwater mussel (Dreissena rostriformis bugensis) in eastern Europe: high gene flow and multiple introductions.

Science.gov (United States)

Therriault, T W; Orlova, M I; Docker, M F; Macisaac, H J; Heath, D D

2005-07-01

In recent years, the quagga mussel, Dreissena rostriformis bugensis, native to the Dnieper and Bug Limans of the northern Black Sea, has been dispersed by human activities across the basin, throughout much of the Volga River system, and to the Laurentian Great Lakes. We used six published microsatellite markers to survey populations throughout its native and introduced range to identify relationships among potential source populations and introduced ones. Mussels from 12 sites in Eurasia, including the central Caspian Sea and one in North America (Lake Erie), were sampled. Field surveys in the Volga River basin suggested that the species first colonized the middle reach of the river near Kubyshev Reservoir, and thereafter spread both upstream and downstream. Evidence of considerable gene flow among populations was observed and genetic diversity was consistent with a larger, metapopulation that has not experienced bottlenecks or founder effects. We propose that high gene flow, possibly due to multiple invasions, has facilitated establishment of quagga mussel populations in the Volga River system. The Caspian Sea population (D. rostriformis rostriformis (=distincta)) was genetically more distinct than other populations, a finding that may be related to habitat differences. The geographical pattern of genetic divergence is not characteristic of isolation-by-distance but, rather, of long-distance dispersal, most likely mediated by commercial ships' ballast water transfer.

Multi-criteria decision aid approach for the selection of the best compromise management scheme for ELVs: the case of Cyprus.

Science.gov (United States)

Mergias, I; Moustakas, K; Papadopoulos, A; Loizidou, M

2007-08-25

Each alternative scheme for treating a vehicle at its end of life has its own consequences from a social, environmental, economic and technical point of view. Furthermore, the criteria used to determine these consequences are often contradictory and not equally important. In the presence of multiple conflicting criteria, an optimal alternative scheme never exists. A multiple-criteria decision aid (MCDA) method to aid the Decision Maker (DM) in selecting the best compromise scheme for the management of End-of-Life Vehicles (ELVs) is presented in this paper. The constitution of a set of alternatives schemes, the selection of a list of relevant criteria to evaluate these alternative schemes and the choice of an appropriate management system are also analyzed in this framework. The proposed procedure relies on the PROMETHEE method which belongs to the well-known family of multiple criteria outranking methods. For this purpose, level, linear and Gaussian functions are used as preference functions.

Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics.

Directory of Open Access Journals (Sweden)

Jill A Hollenbach

Full Text Available We conducted a nationwide study comparing self-identification to genetic ancestry classifications in a large cohort (n = 1752 from the National Marrow Donor Program. We sought to determine how various measures of self-identification intersect with genetic ancestry, with the aim of improving matching algorithms for unrelated bone marrow transplant. Multiple dimensions of self-identification, including race/ethnicity and geographic ancestry were compared to classifications based on ancestry informative markers (AIMs, and the human leukocyte antigen (HLA genes, which are required for transplant matching. Nearly 20% of responses were inconsistent between reporting race/ethnicity versus geographic ancestry. Despite strong concordance between AIMs and HLA, no measure of self-identification shows complete correspondence with genetic ancestry. In certain cases geographic ancestry reporting matches genetic ancestry not reflected in race/ethnicity identification, but in other cases geographic ancestries show little correspondence to genetic measures, with important differences by gender. However, when respondents assign ancestry to grandparents, we observe sub-groups of individuals with well- defined genetic ancestries, including important differences in HLA frequencies, with implications for transplant matching. While we advocate for tailored questioning to improve accuracy of ancestry ascertainment, collection of donor grandparents' information will improve the chances of finding matches for many patients, particularly for mixed-ancestry individuals.

Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics

Science.gov (United States)

Hollenbach, Jill A.; Saperstein, Aliya; Albrecht, Mark; Vierra-Green, Cynthia; Parham, Peter; Norman, Paul J.; Maiers, Martin

2015-01-01

We conducted a nationwide study comparing self-identification to genetic ancestry classifications in a large cohort (n = 1752) from the National Marrow Donor Program. We sought to determine how various measures of self-identification intersect with genetic ancestry, with the aim of improving matching algorithms for unrelated bone marrow transplant. Multiple dimensions of self-identification, including race/ethnicity and geographic ancestry were compared to classifications based on ancestry informative markers (AIMs), and the human leukocyte antigen (HLA) genes, which are required for transplant matching. Nearly 20% of responses were inconsistent between reporting race/ethnicity versus geographic ancestry. Despite strong concordance between AIMs and HLA, no measure of self-identification shows complete correspondence with genetic ancestry. In certain cases geographic ancestry reporting matches genetic ancestry not reflected in race/ethnicity identification, but in other cases geographic ancestries show little correspondence to genetic measures, with important differences by gender. However, when respondents assign ancestry to grandparents, we observe sub-groups of individuals with well- defined genetic ancestries, including important differences in HLA frequencies, with implications for transplant matching. While we advocate for tailored questioning to improve accuracy of ancestry ascertainment, collection of donor grandparents’ information will improve the chances of finding matches for many patients, particularly for mixed-ancestry individuals. PMID:26287376

Multiple surveys employing a new sample-processing protocol reveal the genetic diversity of placozoans in Japan.

Science.gov (United States)

Miyazawa, Hideyuki; Nakano, Hiroaki

2018-03-01

Placozoans, flat free-living marine invertebrates, possess an extremely simple bauplan lacking neurons and muscle cells and represent one of the earliest-branching metazoan phyla. They are widely distributed from temperate to tropical oceans. Based on mitochondrial 16S rRNA sequences, 19 haplotypes forming seven distinct clades have been reported in placozoans to date. In Japan, placozoans have been found at nine locations, but 16S genotyping has been performed at only two of these locations. Here, we propose a new processing protocol, "ethanol-treated substrate sampling," for collecting placozoans from natural environments. We also report the collection of placozoans from three new locations, the islands of Shikine-jima, Chichi-jima, and Haha-jima, and we present the distribution of the 16S haplotypes of placozoans in Japan. Multiple surveys conducted at multiple locations yielded five haplotypes that were not reported previously, revealing high genetic diversity in Japan, especially at Shimoda and Shikine-jima Island. The observed geographic distribution patterns were different among haplotypes; some were widely distributed, while others were sampled only from a single location. However, samplings conducted on different dates at the same sites yielded different haplotypes, suggesting that placozoans of a given haplotype do not inhabit the same site constantly throughout the year. Continued sampling efforts conducted during all seasons at multiple locations worldwide and the development of molecular markers within the haplotypes are needed to reveal the geographic distribution pattern and dispersal history of placozoans in greater detail.

A multi-criteria decision making approach for supplier selection in the flexible packaging industry

Directory of Open Access Journals (Sweden)

Cristea Ciprian

2017-01-01

Full Text Available The supplier selection problem represents one of the most important components of the supply chain management. This article presents a multiple criteria decision making analysis contributing to the selection of the most convenient supplier in the flexible packaging industry. Due to the fact that in today's supply chain management, the performance of potential suppliers is evaluated against multiple criteria rather than taking into account only the cost factor, the appropriate criteria in the supplier selection have been identified, and the considered variants are assessed, considering the decision maker’s preferences and existing constraints. The variants are ranked in terms of their suitability for selecting a supplier with the use of Electre III method. The results obtained from the simulation experiment suggest that this methodology is a feasible decision support model.

Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis.

Science.gov (United States)

Goddard, K A B; Robitaille, J; Dowling, N F; Parrado, A R; Fishman, J; Bradley, L A; Moore, C A; Khoury, M J

2009-01-01

Recent years have seen increased concern about direct-to-consumer (DTC) genetic testing (i.e., the sale and use of genetic tests without involving a health care provider). Numerous professional organizations have developed policies in this area. However, little systematic evidence exists to inform public policy about these tests. We conducted a systematic search to identify genetic tests that are sold DTC without involving a health care provider. We evaluated the practices of companies offering DTC genetic tests for risk of thrombosis using criteria from multiple sources and a minimal set of key practices. We identified 84 instances of currently available health-related DTC genetic tests sold on 27 Web sites; the most common were for pharmacogenomics (12), risk of thrombosis (10), and nutrigenomics (10). For the DTC genetic tests for risk of thrombosis, we found low adherence to recommendations. Online information was frequently incomplete and had low agreement with professional recommendations. Our findings document the rapid growth in the availability of health-related DTC genetic tests and highlight the need to improve the delivery of DTC genetic tests. A major implication of this study is the need for the scientific and medical community to develop consistent recommendations to increase their impact. Copyright 2008 S. Karger AG, Basel.

Multiple oncocytomas and renal carcinoma

International Nuclear Information System (INIS)

Velasquez, G.; Glass, T.A.; D'Souza, V.J.; Formanek, A.G.

1984-01-01

Renal oncocytoma, although rare, is being diagnosed more frequently, and criteria to differentiate it from other tumors have been described. Multiple oncocytomas have been reported, but an association between multiple oncocytomas and renal carcinoma in the same kidney has not been described. The authors report a case with two oncocytomas and a renal carcinoma in the right kidney as well as a right adrenal adenoma

District Heating Network Design and Configuration Optimization with Genetic Algorithm

DEFF Research Database (Denmark)

Li, Hongwei; Svendsen, Svend

2013-01-01

In this paper, the configuration of a district heating network which connects from the heating plant to the end users is optimized. Each end user in the network represents a building block. The connections between the heat generation plant and the end users are represented with mixed integer...... and the pipe friction and heat loss formulations are non-linear. In order to find the optimal district heating network configuration, genetic algorithm which handles the mixed integer nonlinear programming problem is chosen. The network configuration is represented with binary and integer encoding...... and it is optimized in terms of the net present cost. The optimization results indicates that the optimal DH network configuration is determined by multiple factors such as the consumer heating load, the distance between the heating plant to the consumer, the design criteria regarding the pressure and temperature...

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?

International Nuclear Information System (INIS)

Erdas, Enrico; Mariotti, Stefano; Pomata, Mariano; Aste, Nicola; Pilloni, Luca; Nicolosi, Angelo; Licheri, Sergio; Cappai, Antonello; Mastinu, Marco; Cetani, Filomena; Pardi, Elena

2012-01-01

Diagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT) in which genetic testing failed to detect germline mutations of MEN-1 and other known genes responsible for MEN1. The patient, a 65-year old woman, had been suffering for more than 1 year from weakness, progressive weight loss, angular cheilitis, glossitis and, more recently, skin rashes on the perineum, perioral skin and groin folds. After multidisciplinary investigations, functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither MEN-1 nor other gene mutations responsible for rarer cases of MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, CDKN2C/p18, CDKN2B/p21). The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and 99m Tc-sestamibi scan with SPECT acquisition. Total thyroidectomy was performed, whereas selective parathyroidectomy was preferred to a more extensive procedure because the diagnosis of MEN1 was not supported by genetic analysis and intraoperative intact parathyroid hormone had revealed “adenoma-like” kinetics after the second parathyroid resection. Thirty-nine and 25 months after respectively the first and the second operation, the patient is well and shows no signs or symptoms of recurrence. Despite

Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19

Energy Technology Data Exchange (ETDEWEB)

Knowlton, R.G.; Cekleniak, J.A. [Jefferson Medical College, Philadelphia, PA (United States); Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)] [and others

1994-09-01

Multiple epiphyseal dysplasia (EDM1), a dominantly inherited chondrodysplasia resulting in peripheral joint deformities and premature osteoarthritis, and pseudoachondroplasia (PSACH), a more severe disorder associated with short-limbed dwarfism, have recently been mapped to the pericentromeric region of chromosome 19. Chondrocytes from some PSACH patients accumulate lamellar deposits in the endoplasmic reticulum that are immunologically cross-reactive with aggrecan. However, neither aggrecan nor any known candidate gene maps to the EDM1/PSACH region of chromosome 19. Genetic linkage mapping in two lage families had placed the disease locus between D19S215 (19p12) and D19S212 (19p13.1), an interval of about 3.5 Mb. With at least five potentially informative cross-overs within this interval, recombination mapping at greater resolution was undertaken. From cosmids assigned to the region by fluorescence in situ hybridization and contig assembly, dinucleotide repeat tracts were identified for use as polymorphic genetic markers. Linkage data from three new dinucleotide repeat markers from cosmids mapped between D19S212 and D19S215 limit the EDM1/PSACH locus to an interval spanning approximately 2 Mb.

Developmental cognitive genetics: How psychology can inform genetics and vice versa

OpenAIRE

Bishop, Dorothy V. M.

2006-01-01

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures ...

Update on Sporadic Colorectal Cancer Genetics.

Science.gov (United States)

Hardiman, Karin M

2018-05-01

Our understanding of the genetics of colorectal cancer has changed dramatically over recent years. Colorectal cancer can be classified in multiple different ways. Along with the advent of whole-exome sequencing, we have gained an understanding of the scale of the genetic changes found in sporadic colorectal cancer. We now know that there are multiple pathways that are commonly involved in the evolution of colorectal cancer including Wnt/β-catenin, RAS, EGFR, and PIK3 kinase. Another recent leap in our understanding of colorectal cancer genetics is the recognition that many, if not all tumors, are actually genetically heterogeneous within individual tumors and also between tumors. Recent research has revealed the prognostic and possibly therapeutic implications of various specific mutations, including specific mutations in BRAF and KRAS . There is increasing interest in the use of mutation testing for screening and surveillance through stool and circulating DNA testing. Recent advances in translational research in colorectal cancer genetics are dramatically changing our understanding of colorectal cancer and will likely change therapy and surveillance in the near future.

European ancestry predominates in neuromyelitis optica and multiple sclerosis patients from Brazil.

Directory of Open Access Journals (Sweden)

Doralina Guimarães Brum

Full Text Available BACKGROUND: Neuromyelitis optica (NMO is considered relatively more common in non-Whites, whereas multiple sclerosis (MS presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs to estimate the genetic ancestry contribution to NMO patients. METHODS: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP, Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP. PRINCIPAL FINDINGS: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7% patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5% patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. CONCLUSIONS: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Science.gov (United States)

Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

2016-01-01

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Directory of Open Access Journals (Sweden)

A. Dessa Sadovnick

2016-07-01

Full Text Available Multiple sclerosis (MS is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D in plasminogen (PLG as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351 in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117, despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87. To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

Genetics Home Reference: esophageal atresia/tracheoesophageal fistula

Science.gov (United States)

... are some genetic conditions more common in particular ethnic groups? Genetic Changes Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. ...

Participatory flood vulnerability assessment: a multi-criteria approach

Science.gov (United States)

Madruga de Brito, Mariana; Evers, Mariele; Delos Santos Almoradie, Adrian

2018-01-01

This paper presents a participatory multi-criteria decision-making (MCDM) approach for flood vulnerability assessment while considering the relationships between vulnerability criteria. The applicability of the proposed framework is demonstrated in the municipalities of Lajeado and Estrela, Brazil. The model was co-constructed by 101 experts from governmental organizations, universities, research institutes, NGOs, and private companies. Participatory methods such as the Delphi survey, focus groups, and workshops were applied. A participatory problem structuration, in which the modellers work closely with end users, was used to establish the structure of the vulnerability index. The preferences of each participant regarding the criteria importance were spatially modelled through the analytical hierarchy process (AHP) and analytical network process (ANP) multi-criteria methods. Experts were also involved at the end of the modelling exercise for validation. The final product is a set of individual and group flood vulnerability maps. Both AHP and ANP proved to be effective for flood vulnerability assessment; however, ANP is preferred as it considers the dependences among criteria. The participatory approach enabled experts to learn from each other and acknowledge different perspectives towards social learning. The findings highlight that to enhance the credibility and deployment of model results, multiple viewpoints should be integrated without forcing consensus.

[Inappropriate prescription in older patients: the STOPP/START criteria].

LENUS (Irish Health Repository)

Delgado Silveira, Eva

2009-09-01

Older people are a heterogeneous group of patients, often with multiple comorbidities for which they are prescribed a large number of drugs, leading to an increased risk of adverse drug reactions (ADR) and drug interactions. This risk is compounded by physiological age-related changes in physiology, changes in drug pharmacokinetics and pharmacodynamics, as well as by disease-related, functional and social issues. Inappropriate prescription of drugs is common in the older individuals and contributes to the increased risk of ADR. Several tools have been developed to detect potentially inappropriate prescription, the most frequently used in Spain being Beers\\' criteria. However, the value of these criteria is limited, especially as they were developed in a different healthcare system. In this article, the Spanish version of a new tool to detect potentially inappropriate prescriptions-STOPP (Screening Tool of Older Person\\'s Prescriptions) and START (Screening Tool to Alert doctors to Right i.e. appropriate, indicated Treatment) criteria-is presented. The creation, development, reliability, and use of these criteria in routine practice is described and discussed. These criteria have shown better sensitivity than Beers\\' criteria in detecting prescription problems and have the added value of being able to detect not only inappropriate prescription of some drugs, but also the omission of well indicated drugs. The STOPP\\/START criteria could become a useful screening tool to improve prescription in older people.

Schedule Optimization of Imaging Missions for Multiple Satellites and Ground Stations Using Genetic Algorithm

Science.gov (United States)

Lee, Junghyun; Kim, Heewon; Chung, Hyun; Kim, Haedong; Choi, Sujin; Jung, Okchul; Chung, Daewon; Ko, Kwanghee

2018-04-01

In this paper, we propose a method that uses a genetic algorithm for the dynamic schedule optimization of imaging missions for multiple satellites and ground systems. In particular, the visibility conflicts of communication and mission operation using satellite resources (electric power and onboard memory) are integrated in sequence. Resource consumption and restoration are considered in the optimization process. Image acquisition is an essential part of satellite missions and is performed via a series of subtasks such as command uplink, image capturing, image storing, and image downlink. An objective function for optimization is designed to maximize the usability by considering the following components: user-assigned priority, resource consumption, and image-acquisition time. For the simulation, a series of hypothetical imaging missions are allocated to a multi-satellite control system comprising five satellites and three ground stations having S- and X-band antennas. To demonstrate the performance of the proposed method, simulations are performed via three operation modes: general, commercial, and tactical.

Multiple system atrophy: genetic risks and alpha-synuclein mutations [version 1; referees: 2 approved

Directory of Open Access Journals (Sweden)

Heather T Whittaker

2017-11-01

Full Text Available Multiple system atrophy (MSA is one of the few neurodegenerative disorders where we have a significant understanding of the clinical and pathological manifestations but where the aetiology remains almost completely unknown. Research to overcome this hurdle is gaining momentum through international research collaboration and a series of genetic and molecular discoveries in the last few years, which have advanced our knowledge of this rare synucleinopathy. In MSA, the discovery of α-synuclein pathology and glial cytoplasmic inclusions remain the most significant findings. Families with certain types of α-synuclein mutations develop diseases that mimic MSA, and the spectrum of clinical and pathological features in these families suggests a spectrum of severity, from late-onset Parkinson’s disease to MSA. Nonetheless, controversies persist, such as the role of common α-synuclein variants in MSA and whether this disorder shares a common mechanism of spreading pathology with other protein misfolding neurodegenerative diseases. Here, we review these issues, specifically focusing on α-synuclein mutations.

Multi-criteria comparative evaluation of spallation reaction models

Science.gov (United States)

Andrianov, Andrey; Andrianova, Olga; Konobeev, Alexandr; Korovin, Yury; Kuptsov, Ilya

2017-09-01

This paper presents an approach to a comparative evaluation of the predictive ability of spallation reaction models based on widely used, well-proven multiple-criteria decision analysis methods (MAVT/MAUT, AHP, TOPSIS, PROMETHEE) and the results of such a comparison for 17 spallation reaction models in the presence of the interaction of high-energy protons with natPb.

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Directory of Open Access Journals (Sweden)

von Kodolitsch Y

2015-06-01

Full Text Available Yskert von Kodolitsch,1 Julie De Backer,2 Helke Schüler,1 Peter Bannas,3 Cyrus Behzadi,3 Alexander M Bernhardt,1 Mathias Hillebrand,1 Bettina Fuisting,4 Sara Sheikhzadeh,1 Meike Rybczynski,1 Tilo Kölbel,1 Klaus Püschel,5 Stefan Blankenberg,1 Peter N Robinson61Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany; 2Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium; 3Diagnostic and Interventional Radiology Department and Clinic, 4Department of Ophthalmology, 5Department of Legal Medicine, University Hospital Eppendorf, Hamburg, Germany; 6Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany Abstract: Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS: the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1; and the revised Ghent nosology in 2010 (Ghent-2. We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2 and in persons not having a causative FBN1 mutation (15% versus 13%. Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of

Criteria for stability of linear dynamical systems with multiple delays ...

African Journals Online (AJOL)

In this study we considered a linear Dynamical system with multiple delays and find suitable conditions on the systems parameters such that for a given initial function, we can define a mapping in a carefully chosen complete metric space on which the mapping has a unique fixed point. An asymptotic stability theory for the ...

Genetic Causal Attribution of Epilepsy and its Implications for Felt Stigma

Science.gov (United States)

Sabatello, Maya; Phelan, Jo C.; Hesdorffer, Dale C.; Shostak, Sara; Goldsmith, Jeff; Sorge, Shawn T.; Winawer, Melodie R.; Chung, Wendy K.; Ottman, Ruth

2015-01-01

Summary Objective Research in other disorders suggests that genetic causal attribution of epilepsy might be associated with increased stigma. We investigated this hypothesis in a unique sample of families containing multiple individuals with epilepsy. Methods 181 people with epilepsy and 178 biological relatives without epilepsy completed a self-administered survey. In people with epilepsy, felt stigma was assessed through the Epilepsy Stigma Scale (ESS), scored 1 to 7 with higher scores indicating more stigma and >4 indicating some felt stigma. Felt stigma related to having epilepsy in the family was assessed through the Family Epilepsy Stigma Scale (FESS), created by replacing “epilepsy” with “epilepsy in my family” in each ESS item. Genetic attribution was assessed through participants’ perceptions of the (1) role of genetics in causing epilepsy in the family, (2) chance they had an epilepsy-related mutation, and (3) (in people with epilepsy) influence of genetics in causing their epilepsy. Results Among people with epilepsy, 22% met criteria for felt stigma (ESS score >4). Scores were increased among individuals who were aged ≥60 years, were unemployed, reported epilepsy-related discrimination, or had seizures within the last year or >100 seizures in their lifetime. Adjusting for other variables, ESS scores in people with epilepsy were significantly higher among those who perceived genetics played a “medium” or “big” role in causing epilepsy in the family than in others (3.4 vs. 2.7, p=0.025). Only 4% of relatives without epilepsy had felt stigma. Scores in relatives were unrelated to genetic attribution. Significance In these unusual families, predictors of felt stigma in individuals with epilepsy are similar to those in other studies, and stigma levels are low in relatives without epilepsy. Felt stigma may be increased in people with epilepsy who believe epilepsy in the family has a genetic cause, emphasizing the need for sensitive

Genetic variants influencing phenotypic variance heterogeneity.

Science.gov (United States)

Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan; Gyllensten, Ulf; Johansson, Åsa

2018-03-01

Most genetic studies identify genetic variants associated with disease risk or with the mean value of a quantitative trait. More rarely, genetic variants associated with variance heterogeneity are considered. In this study, we have identified such variance single-nucleotide polymorphisms (vSNPs) and examined if these represent biological gene × gene or gene × environment interactions or statistical artifacts caused by multiple linked genetic variants influencing the same phenotype. We have performed a genome-wide study, to identify vSNPs associated with variance heterogeneity in DNA methylation levels. Genotype data from over 10 million single-nucleotide polymorphisms (SNPs), and DNA methylation levels at over 430 000 CpG sites, were analyzed in 729 individuals. We identified vSNPs for 7195 CpG sites (P mean DNA methylation levels. We further showed that variance heterogeneity between genotypes mainly represents additional, often rare, SNPs in linkage disequilibrium (LD) with the respective vSNP and for some vSNPs, multiple low frequency variants co-segregating with one of the vSNP alleles. Therefore, our results suggest that variance heterogeneity of DNA methylation mainly represents phenotypic effects by multiple SNPs, rather than biological interactions. Such effects may also be important for interpreting variance heterogeneity of more complex clinical phenotypes.

Automated identification of social interaction criteria in Drosophila melanogaster.

Science.gov (United States)

Schneider, J; Levine, J D

2014-10-01

The study of social behaviour within groups has relied on fixed definitions of an 'interaction'. Criteria used in these definitions often involve a subjectively defined cut-off value for proximity, orientation and time (e.g. courtship, aggression and social interaction networks) and the same numerical values for these criteria are applied to all of the treatment groups within an experiment. One universal definition of an interaction could misidentify interactions within groups that differ in life histories, study treatments and/or genetic mutations. Here, we present an automated method for determining the values of interaction criteria using a pre-defined rule set rather than pre-defined values. We use this approach and show changing social behaviours in different manipulations of Drosophila melanogaster. We also show that chemosensory cues are an important modality of social spacing and interaction. This method will allow a more robust analysis of the properties of interacting groups, while helping us understand how specific groups regulate their social interaction space. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

Multi-criteria decision making under uncertainty in building performance assessment

NARCIS (Netherlands)

Hopfe, C.J.; Augenbroe, G.; Hensen, J.L.M.

2013-01-01

Building performance assessment is complex, as it has to respond to multiple criteria. Objectives originating from the demands that are put on energy consumption, acoustical performance, thermal occupant comfort, indoor air quality and many other issues must all be reconciled. An assessment requires

An Interactive Signed Distance Approach for Multiple Criteria Group Decision-Making Based on Simple Additive Weighting Method with Incomplete Preference Information Defined by Interval Type-2 Fuzzy Sets

OpenAIRE

Ting-Yu Chen

2014-01-01

Interval type-2 fuzzy sets (T2FSs) with interval membership grades are suitable for dealing with imprecision or uncertainties in many real-world problems. In the Interval type-2 fuzzy context, the aim of this paper is to develop an interactive signed distance-based simple additive weighting (SAW) method for solving multiple criteria group decision-making problems with linguistic ratings and incomplete preference information. This paper first formulates a group decision-making problem with unc...

Genetic and demographic responses of mosquitofish (Gambusia holbrooki) populations exposed to mercury for multiple generations

Energy Technology Data Exchange (ETDEWEB)

Tatara, C.P.; Mulvey, M.; Newman, M.C.

1999-12-01

Genetic and demographic responses of mosquitofish were examined after multiple generations of exposure to mercury. Previous studies of acute lethal exposures of mosquitofish to either mercury or arsenic demonstrated a consistent correlation between time to death and genotype at the glucosephosphate isomerase-2 (Gpi-2) locus. A mesocosm study involving mosquitofish populations exposed to mercury for 111 d showed significant female sexual selection and fecundity selection at the Gpi-2 locus. Here the mesocosm study was extended to populations exposed to mercury for several (approx. four) generations. After 2 years, control and mercury-exposed populations met Hardy-Weinberg expectations and showed no evidence of genetic bottlenecks. The mean number of heterozygous loci did not differ significantly between the mercury-exposed and control populations. Significant differences in allele frequencies at the Gpi-2 locus were observed between the mercury-exposed and control populations. Relative to the initial and control allele frequencies, the GPI-2{sup 100} allele frequency was lower, the Gpi-2{sup 66} allele frequency increased, but the Gpi-2{sup 38} allele frequency did not change in mercury-exposed populations. No significant differences were found in standard length, weight, sex ratio, or age class ratio between the control and mercury-exposed populations. Allele frequency changes at the Gpi-2 locus suggest population-level response to chronic mercury exposure. Changes in allele frequency may be useful as indicators of population response to contaminants, provided that the population in question is well understood.

Do species conservation assessments capture genetic diversity?

Directory of Open Access Journals (Sweden)

Malin C. Rivers

2014-12-01

Full Text Available The best known system for classifying threat status of species, the IUCN Red List, currently lacks explicit considerations of genetic diversity, and consequently may not account for potential adaptation of species to future environmental change. To address this gap, we integrate range-wide genetic analysis with IUCN Red List assessments.We calculated the loss of genetic diversity under simulated range loss for species of Delonix (Leguminosae. Simulated range loss involved random loss of populations and was intended to model ongoing habitat destruction. We found a strong relationship between loss of genetic diversity and range. Moreover, we found correspondence between levels of genetic diversity and thresholds for ‘non-threatened’ versus ‘threatened’ IUCN Red List categories.Our results support the view that current threat thresholds of the IUCN Red List criteria reflect genetic diversity, and hence evolutionary potential; although the genetic diversity distinction between threatened categories was less evident. Thus, by supplementing conventional conservation assessments with genetic data, new insights into the biological robustness of IUCN Red List assessments for targeted conservation initiatives can be achieved. Keywords: Conservation assessment, Conservation genetics, Extinction risk, Genetic diversity, IUCN Red List, Range

Defining active progressive multiple sclerosis

DEFF Research Database (Denmark)

Sellebjerg, Finn; Börnsen, Lars; Ammitzbøll, Cecilie

2017-01-01

BACKGROUND: It is unknown whether disease activity according to consensus criteria (magnetic resonance imaging activity or clinical relapses) associate with cerebrospinal fluid (CSF) changes in progressive multiple sclerosis (MS). OBJECTIVE: To compare CSF biomarkers in active and inactive...

Genetic consequences of trumpeter swan (Cygnus buccinator) reintroductions

Science.gov (United States)

Ransler, F.A.; Quinn, T.W.; Oyler-McCance, S.J.

2011-01-01

Relocation programs are often initiated to restore threatened species to previously occupied portions of their range. A primary challenge of restoration efforts is to translocate individuals in a way that prevents loss of genetic diversity and decreases differentiation relative to source populations-a challenge that becomes increasingly difficult when remnant populations of the species are already genetically depauperate. Trumpeter swans were previously extirpated in the entire eastern half of their range. Physical translocations of birds over the last 70 years have restored the species to portions of its historical range. Despite the long history of management, there has been little monitoring of the genetic outcomes of these restoration attempts. We assessed the consequences of this reintroduction program by comparing patterns of genetic variation at 17 microsatellite loci across four restoration flocks (three wild-released, one captive) and their source populations. We found that a wild-released population established from a single source displayed a trend toward reduced genetic diversity relative to and significant genetic differentiation from its source population, though small founder population effects may also explain this pattern. Wild-released flocks restored from multiple populations maintained source levels of genetic variation and lacked significant differentiation from at least one of their sources. Further, the flock originating from a single source revealed significantly lower levels of genetic variation than those established from multiple sources. The distribution of genetic variation in the captive flock was similar to its source. While the case of trumpeter swans provides evidence that restorations from multiple versus single source populations may better preserve natural levels of genetic diversity, more studies are needed to understand the general applicability of this management strategy. ?? 2010 Springer Science+Business Media B.V. (outside

Implications of Heterogeneity in Multiple Myeloma

Directory of Open Access Journals (Sweden)

Sanjay de Mel

2014-01-01

Full Text Available Multiple myeloma is the second most common hematologic malignancy in the world. Despite improvement in outcome, the disease is still incurable for most patients. However, not all myeloma are the same. With the same treatment, some patients can have very long survival whereas others can have very short survival. This suggests that there is underlying heterogeneity in myeloma. Studies over the years have revealed multiple layers of heterogeneity. First, clinical parameters such as age and tumor burden could significantly affect outcome. At the genetic level, there are also significant heterogeneity ranging for chromosome numbers, genetic translocations, and genetic mutations. At the clonal level, there appears to be significant clonal heterogeneity with multiple clones coexisting in the same patient. At the cell differentiation level, there appears to be a hierarchy of clonally related cells that have different clonogenic potential and sensitivity to therapies. These levels of complexities present challenges in terms of treatment and prognostication as well as monitoring of treatment. However, if we can clearly delineate and dissect this heterogeneity, we may also be presented with unique opportunities for precision and personalized treatment of myeloma. Some proof of concepts of such approaches has been demonstrated.

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Science.gov (United States)

Puig, Susana; Potrony, Miriam; Cuellar, Francisco; Puig-Butille, Joan Anton; Carrera, Cristina; Aguilera, Paula; Nagore, Eduardo; Garcia-Casado, Zaida; Requena, Celia; Kumar, Rajiv; Landman, Gilles; Costa Soares de Sá, Bianca; Gargantini Rezze, Gisele; Facure, Luciana; de Avila, Alexandre Leon Ribeiro; Achatz, Maria Isabel; Carraro, Dirce Maria; Duprat Neto, João Pedreira; Grazziotin, Thais C; Bonamigo, Renan R; Rey, Maria Carolina W; Balestrini, Claudia; Morales, Enrique; Molgo, Montserrat; Bakos, Renato Marchiori; Ashton-Prolla, Patricia; Giugliani, Roberto; Larre Borges, Alejandra; Barquet, Virginia; Pérez, Javiera; Martínez, Miguel; Cabo, Horacio; Cohen Sabban, Emilia; Latorre, Clara; Carlos-Ortega, Blanca; Salas-Alanis, Julio C; Gonzalez, Roger; Olazaran, Zulema; Malvehy, Josep; Badenas, Celia

2016-07-01

CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.

Solving multi-objective job shop scheduling problems using a non-dominated sorting genetic algorithm

Science.gov (United States)

Piroozfard, Hamed; Wong, Kuan Yew

2015-05-01

The efforts of finding optimal schedules for the job shop scheduling problems are highly important for many real-world industrial applications. In this paper, a multi-objective based job shop scheduling problem by simultaneously minimizing makespan and tardiness is taken into account. The problem is considered to be more complex due to the multiple business criteria that must be satisfied. To solve the problem more efficiently and to obtain a set of non-dominated solutions, a meta-heuristic based non-dominated sorting genetic algorithm is presented. In addition, task based representation is used for solution encoding, and tournament selection that is based on rank and crowding distance is applied for offspring selection. Swapping and insertion mutations are employed to increase diversity of population and to perform intensive search. To evaluate the modified non-dominated sorting genetic algorithm, a set of modified benchmarking job shop problems obtained from the OR-Library is used, and the results are considered based on the number of non-dominated solutions and quality of schedules obtained by the algorithm.

Genetics of osteoarthritis.

Science.gov (United States)

Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

2015-01-01

Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Evolution of resistance to a multiple-herbivore community: genetic correlations, diffuse coevolution, and constraints on the plant's response to selection.

Science.gov (United States)

Wise, Michael J; Rausher, Mark D

2013-06-01

Although plants are generally attacked by a community of several species of herbivores, relatively little is known about the strength of natural selection for resistance in multiple-herbivore communities-particularly how the strength of selection differs among herbivores that feed on different plant organs or how strongly genetic correlations in resistance affect the evolutionary responses of the plant. Here, we report on a field study measuring natural selection for resistance in a diverse community of herbivores of Solanum carolinense. Using linear phenotypic-selection analyses, we found that directional selection acted to increase resistance to seven species. Selection was strongest to increase resistance to fruit feeders, followed by flower feeders, then leaf feeders. Selection favored a decrease in resistance to a stem borer. Bootstrapping analyses showed that the plant population contained significant genetic variation for each of 14 measured resistance traits and significant covariances in one-third of the pairwise combinations of resistance traits. These genetic covariances reduced the plant's overall predicted evolutionary response for resistance against the herbivore community by about 60%. Diffuse (co)evolution was widespread in this community, and the diffuse interactions had an overwhelmingly constraining (rather than facilitative) effect on the plant's evolution of resistance. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

An association study of 13 SNPs from seven candidate genes with pediatric asthma and a preliminary study for genetic testing by multiple variants in Taiwanese population.

Science.gov (United States)

Wang, Jiu-Yao; Liou, Ya-Huei; Wu, Ying-Jye; Hsiao, Ya-Hsin; Wu, Lawrence Shih-Hsin

2009-03-01

Asthma is one of the most common chronic diseases in children. It is caused by complex interactions between various genetic factors and exposures to environmental allergens and irritants. Because of the heterogeneity of the disease and the genetic and cultural differences among different populations, a proper association study and genetic testing for asthma and susceptibility genes is difficult to perform. We assessed 13 single-nucleotide polymorphisms (SNPs) in seven well-known asthma susceptibility genes and looked for association with pediatric asthma using 449 asthmatic subjects and 512 non-asthma subjects in Taiwanese population. CD14-159 C/T and MS4A2 Glu237Gly were identified to have difference in genotype/allele frequencies between the control group and asthma patients. Moreover, the genotype synergistic analysis showed that the co-contribution of two functional SNPs was riskier or more protective from asthma attack. Our study provided a genotype synergistic method for studying gene-gene interaction on polymorphism basis and genetic testing using multiple polymorphisms.

Genetic parameters for litter size in Black Slavonian pigs

Energy Technology Data Exchange (ETDEWEB)

Skorput, D.; Gorjanc, G.; Dikic, M.; Lujovic, Z.

2014-06-01

The objective of this study was to estimate genetic parameters for litter size of Black Slavonian pigs using the repeatability, multiple trait, and random regression models, and to consider the possibility to increase litter size in Black Slavonian pigs by selection. A total of 4,733 litter records from the first to the sixth parity from sows that farrowed between January 1998 and December 2010 were included in the analysis. Individual record consisted of the following variables: breeding organisation (eight regions), parity (1-6), service boar, and farrowing season (monthyear interaction). Estimation of all the covariance components with three different models was based on the residual maximum likelihood method. Estimate of additive genetic variance and heritability for number of piglets born alive with repeatability model was 0.23 and 0.10, respectively. Estimates of additive genetic variance with multiple trait and random regression model were in a wider range from 0.05 to 0.65 across parities, and heritabilities were estimated in the range between 0.03 and 0.26. Estimates of phenotypic and additive genetic correlations were much smoother with random regression model in comparison with multiple trait model. Due to unexpected changes of variances along trajectory obtained with multiple trait and random regression model, the best option for genetic evaluation of litter size for now could be the use of repeatability model. With increasing number of data with proper data structure alternative modelling of litter size of Black Slavonian pig using multiple trait and random regression model could be taken into consideration. (Author)

Genetic parameters for litter size in Black Slavonian pigs

Directory of Open Access Journals (Sweden)

Dubravko Skorput

2014-02-01

Full Text Available The objective of this study was to estimate genetic parameters for litter size of Black Slavonian pigs using the repeatability, multiple trait, and random regression models, and to consider the possibility to increase litter size in Black Slavonian pigs by selection. A total of 4733 litter records from the first to the sixth parity from sows that farrowed between January 1998 and December 2010 were included in the analysis. Individual record consisted of the following variables: breeding organisation (eight regions, parity (1-6, service boar, and farrowing season (month-year interaction. Estimation of all the covariance components with three different models was based on the residual maximum likelihood method. Estimate of additive genetic variance and heritability for number of piglets born alive with repeatability model was 0.23 and 0.10, respectively. Estimates of additive genetic variance with multiple trait and random regression model were in a wider range from 0.05 to 0.65 across parities, and heritabilities were estimated in the range between 0.03 and 0.26. Estimates of phenotypic and additive genetic correlations were much smoother with random regression model in comparison with multiple trait model. Due to unexpected changes of variances along trajectory obtained with multiple trait and random regression model, the best option for genetic evaluation of litter size for now could be the use of repeatability model. With increasing number of data with proper data structure alternative modelling of litter size of Black Slavonian pig using multiple trait and random regression model could be taken into consideration.

GIS coupled Multiple Criteria based Decision Support for Classification of Urban Coastal Areas in India

Science.gov (United States)

Dhiman, R.; Kalbar, P.; Inamdar, A. B.

2017-12-01

Coastal area classification in India is a challenge for federal and state government agencies due to fragile institutional framework, unclear directions in implementation of costal regulations and violations happening at private and government level. This work is an attempt to improvise the objectivity of existing classification methods to synergies the ecological systems and socioeconomic development in coastal cities. We developed a Geographic information system coupled Multi-criteria Decision Making (GIS-MCDM) approach to classify urban coastal areas where utility functions are used to transform the costal features into quantitative membership values after assessing the sensitivity of urban coastal ecosystem. Furthermore, these membership values for costal features are applied in different weighting schemes to derive Coastal Area Index (CAI) which classifies the coastal areas in four distinct categories viz. 1) No Development Zone, 2) Highly Sensitive Zone, 3) Moderately Sensitive Zone and 4) Low Sensitive Zone based on the sensitivity of urban coastal ecosystem. Mumbai, a coastal megacity in India is used as case study for demonstration of proposed method. Finally, uncertainty analysis using Monte Carlo approach to validate the sensitivity of CAI under specific multiple scenarios is carried out. Results of CAI method shows the clear demarcation of coastal areas in GIS environment based on the ecological sensitivity. CAI provides better decision support for federal and state level agencies to classify urban coastal areas according to the regional requirement of coastal resources considering resilience and sustainable development. CAI method will strengthen the existing institutional framework for decision making in classification of urban coastal areas where most effective coastal management options can be proposed.

Hereditary multiple exostoses: from genetics to clinical syndrome and complications

Energy Technology Data Exchange (ETDEWEB)

Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de

2001-12-01

Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

Hereditary multiple exostoses: from genetics to clinical syndrome and complications

International Nuclear Information System (INIS)

Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de

2001-01-01

Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses

Incidence of multiple sclerosis in Denmark 1948-1982

DEFF Research Database (Denmark)

Koch-Henriksen, Nils; Brønnum-Hansen, Henrik; Hyllested, K

1992-01-01

The incidence rates of multiple sclerosis (MS) in Denmark were estimated as a result of a continuous nationwide epidemiological survey since 1948 by the Danish Multiple Sclerosis Registry (DMSR). Among cases notified to the DMSR, 6,478 met the diagnostic criteria and had onset of MS from 1948...

Two approaches to incorporate clinical data uncertainty into multiple criteria decision analysis for benefit-risk assessment of medicinal products.

Science.gov (United States)

Wen, Shihua; Zhang, Lanju; Yang, Bo

2014-07-01

The Problem formulation, Objectives, Alternatives, Consequences, Trade-offs, Uncertainties, Risk attitude, and Linked decisions (PrOACT-URL) framework and multiple criteria decision analysis (MCDA) have been recommended by the European Medicines Agency for structured benefit-risk assessment of medicinal products undergoing regulatory review. The objective of this article was to provide solutions to incorporate the uncertainty from clinical data into the MCDA model when evaluating the overall benefit-risk profiles among different treatment options. Two statistical approaches, the δ-method approach and the Monte-Carlo approach, were proposed to construct the confidence interval of the overall benefit-risk score from the MCDA model as well as other probabilistic measures for comparing the benefit-risk profiles between treatment options. Both approaches can incorporate the correlation structure between clinical parameters (criteria) in the MCDA model and are straightforward to implement. The two proposed approaches were applied to a case study to evaluate the benefit-risk profile of an add-on therapy for rheumatoid arthritis (drug X) relative to placebo. It demonstrated a straightforward way to quantify the impact of the uncertainty from clinical data to the benefit-risk assessment and enabled statistical inference on evaluating the overall benefit-risk profiles among different treatment options. The δ-method approach provides a closed form to quantify the variability of the overall benefit-risk score in the MCDA model, whereas the Monte-Carlo approach is more computationally intensive but can yield its true sampling distribution for statistical inference. The obtained confidence intervals and other probabilistic measures from the two approaches enhance the benefit-risk decision making of medicinal products. Copyright © 2014 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program

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Mukherjee Aparna

2010-11-01

Full Text Available Abstract Background In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC. These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study aimed to retrospectively evaluate the percentage of patients diagnosed with HNPCC tumors in 2004 who met revised Bethesda criteria for MSI testing, who were referred for genetic counseling within our institution. Methods All HNPCC tumors diagnosed in 2004 were identified by accessing CoPath, an internal database. Both the Tumor Registry and patients' electronic medical records were accessed to collect all relevant family history information. The list of patients who met at least one of the revised Bethesda criteria, who were candidates for MSI testing, was then cross-referenced with the database of patients referred for genetic counseling within our institution. Results A total of 380 HNPCC-associated tumors were diagnosed at our institution during 2004 of which 41 (10.7% met at least one of the revised Bethesda criteria. Eight (19.5% of these patients were referred for cancer genetic counseling of which 2 (25% were seen by a genetics professional. Ultimately, only 4.9% of patients eligible for MSI testing in 2004 were seen for genetic counseling. Conclusion This retrospective study identified a number of barriers, both internal and external, which hindered the identification of individuals with HNPCC, thus limiting the ability to appropriately manage these high risk families.

Genetic diagnosis of a Chinese multiple endocrine neoplasia type ...

Indian Academy of Sciences (India)

However, different families with MEN 2A due to the same RET mutation often have significant variability inthe clinical exhibition of disease and aggressiveness of the MTC, which implies additional genetic loci exsit beyondRET coding region. Whole genome sequencing (WGS) greatly expands the breadth of screening from ...

CORAL REEF BIOLOGICAL CRITERIA: USING THE CLEAN ...

Science.gov (United States)

Coral reefs are declining at unprecedented rates worldwide due to multiple interactive stressors including climate change and land-based sources of pollution. The Clean Water Act (CWA) can be a powerful legal instrument for protecting water resources, including the biological inhabitants of coral reefs. The objective of the CWA is to restore and maintain the chemical, physical and biological integrity of water resources. Coral reef protection and restoration under the Clean Water Act begins with water quality standards - provisions of state or Federal law that consist of a designated use(s) for the waters of the United States and water quality criteria sufficient to protect the uses. Aquatic life use is the designated use that is measured by biological criteria (biocriteria). Biocriteria are expectations set by a jurisdiction for the quality and quantity of living aquatic resources in a defined waterbody. Biocriteria are an important addition to existing management tools for coral reef ecosystems. The Technical Support Document “Coral Reef Biological Criteria: Using the Clean Water Act to Protect a National Treasure” will provide a framework to aid States and Territories in their development, adoption, and implementation of coral reef biocriteria in their respective water quality standards. The Technical Support Document “Coral Reef Biological Criteria: Using the Clean Water Act to Protect a National Treasure” will provide a framework for coral re

Points to consider for prioritizing clinical genetic testing services

DEFF Research Database (Denmark)

Severin, Franziska; Borry, Pascal; Cornel, Martina C

2015-01-01

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set...... testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit......, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.European Journal of Human Genetics advance online publication, 24 September 2014; doi:10.1038/ejhg.2014.190....

Participatory flood vulnerability assessment: a multi-criteria approach

Directory of Open Access Journals (Sweden)

M. M. de Brito

2018-01-01

Full Text Available This paper presents a participatory multi-criteria decision-making (MCDM approach for flood vulnerability assessment while considering the relationships between vulnerability criteria. The applicability of the proposed framework is demonstrated in the municipalities of Lajeado and Estrela, Brazil. The model was co-constructed by 101 experts from governmental organizations, universities, research institutes, NGOs, and private companies. Participatory methods such as the Delphi survey, focus groups, and workshops were applied. A participatory problem structuration, in which the modellers work closely with end users, was used to establish the structure of the vulnerability index. The preferences of each participant regarding the criteria importance were spatially modelled through the analytical hierarchy process (AHP and analytical network process (ANP multi-criteria methods. Experts were also involved at the end of the modelling exercise for validation. The final product is a set of individual and group flood vulnerability maps. Both AHP and ANP proved to be effective for flood vulnerability assessment; however, ANP is preferred as it considers the dependences among criteria. The participatory approach enabled experts to learn from each other and acknowledge different perspectives towards social learning. The findings highlight that to enhance the credibility and deployment of model results, multiple viewpoints should be integrated without forcing consensus.

Melanoma genetics

DEFF Research Database (Denmark)

Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

2015-01-01

Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

Application of Multiple-Population Genetic Algorithm in Optimizing the Train-Set Circulation Plan Problem

Directory of Open Access Journals (Sweden)

Yu Zhou

2017-01-01

Full Text Available The train-set circulation plan problem (TCPP belongs to the rolling stock scheduling (RSS problem and is similar to the aircraft routing problem (ARP in airline operations and the vehicle routing problem (VRP in the logistics field. However, TCPP involves additional complexity due to the maintenance constraint of train-sets: train-sets must conduct maintenance tasks after running for a certain time and distance. The TCPP is nondeterministic polynomial hard (NP-hard. There is no available algorithm that can obtain the optimal global solution, and many factors such as the utilization mode and the maintenance mode impact the solution of the TCPP. This paper proposes a train-set circulation optimization model to minimize the total connection time and maintenance costs and describes the design of an efficient multiple-population genetic algorithm (MPGA to solve this model. A realistic high-speed railway (HSR case is selected to verify our model and algorithm, and, then, a comparison of different algorithms is carried out. Furthermore, a new maintenance mode is proposed, and related implementation requirements are discussed.

Optimization-Based Image Segmentation by Genetic Algorithms

Directory of Open Access Journals (Sweden)

Rosenberger C

2008-01-01

Full Text Available Abstract Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

Optimization-Based Image Segmentation by Genetic Algorithms

Directory of Open Access Journals (Sweden)

H. Laurent

2008-05-01

Full Text Available Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients

KAUST Repository

James, Tojo

2018-01-06

Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as Multiple Sclerosis (MS). Since a large proportion of expression quantitative trait loci (eQTLs) are context-specific, we performed RNA-Seq in peripheral blood mononuclear cells (PBMCs) from MS patients (n=145) to identify eQTLs in regions centered on 109 MS risk SNPs and seven associated HLA variants. We identified 77 statistically significant eQTL associations, including pseudogenes and non-coding RNAs. Thirty-eight out of 40 testable eQTL effects were colocalised with the disease association signal. Since many eQTLs are tissue specific, we aimed to detail their significance in different cell types. Approximately 70% of the eQTLs were replicated and characterized in at least one major PBMC derived cell type. Furthermore, 40% of eQTLs were found to be more pronounced in MS patients compared to noninflammatory neurological diseases patients. In addition, we found two SNPs to be significantly associated with the proportions of three different cell types. Mapping to enhancer histone marks and predicted transcription factor binding sites added additional functional evidence for eight eQTL regions. As an example, we found that rs71624119, shared with three other autoimmune diseases and located in a primed enhancer (H3K4me1) with potential binding for STAT transcription factors, significantly associates with ANKRD55 expression. This study provides many novel and validated targets for future functional characterization of MS and other diseases.

Packaging design criteria for the MCO cask

International Nuclear Information System (INIS)

Edwards, W.S.

1996-01-01

Approximately 2,100 metric tons of unprocessed, irradiated nuclear fuel elements are presently stored in the K Basins (including possibly 700 additional elements from PUREX, N Reactor, and 327 Laboratory). The basin water, particularly in the K East Basin, contains significant quantities of dissolved nuclear isotopes and radioactive fuel corrosion particles. To permit cleanup of the K Basins and fuel conditioning, the fuel will be transported from the 100 K Area to a Canister Storage Building (CSB) in the 200 East area. In order to initiate K Basin cleanup on schedule, the two-year fuel-shipping campaign must begin by December 1997. The purpose of this packaging design criteria is to provide criteria for the design, fabrication, and use of a packaging system to transport the large quantities of irradiated nuclear fuel elements positioned within Multiple Canister Overpacks

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.

Directory of Open Access Journals (Sweden)

Daniel D Buchanan

2010-07-01

Full Text Available Patients with multiple serrated polyps are at an increased risk for developing colorectal cancer (CRC. Recent reports have linked cigarette smoking with the subset of CRC that develops from serrated polyps. The aim of this work therefore was to investigate the association between smoking and the risk of CRC in high-risk genetics clinic patients presenting with multiple serrated polyps.We identified 151 Caucasian individuals with multiple serrated polyps including at least 5 outside the rectum, and classified patients into non-smokers, current or former smokers at the time of initial diagnosis of polyposis. Cases were individuals with multiple serrated polyps who presented with CRC. Controls were individuals with multiple serrated polyps and no CRC. Multivariate logistic regression was performed to estimate associations between smoking and CRC with adjustment for age at first presentation, sex and co-existing traditional adenomas, a feature that has been consistently linked with CRC risk in patients with multiple serrated polyps. CRC was present in 56 (37% individuals at presentation. Patients with at least one adenoma were 4 times more likely to present with CRC compared with patients without adenomas (OR = 4.09; 95%CI 1.27 to 13.14; P = 0.02. For females, the odds of CRC decreased by 90% in current smokers as compared to never smokers (OR = 0.10; 95%CI 0.02 to 0.47; P = 0.004 after adjusting for age and adenomas. For males, there was no relationship between current smoking and CRC. There was no statistical evidence of an association between former smoking and CRC for both sexes.A decreased odds for CRC was identified in females with multiple serrated polyps who currently smoke, independent of age and the presence of a traditional adenoma. Investigations into the biological basis for these observations could lead to non-smoking-related therapies being developed to decrease the risk of CRC and colectomy in these patients.

Genetics of ischaemic stroke in young adults

OpenAIRE

Terni, Eva; Giannini, Nicola; Brondi, Marco; Montano, Vincenzo; Bonuccelli, Ubaldo; Mancuso, Michelangelo

2015-01-01

Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. ...

Prediction of peripheral neuropathy in multiple myeloma patients receiving bortezomib and thalidomide: a genetic study based on a single nucleotide polymorphism array.

Science.gov (United States)

García-Sanz, Ramón; Corchete, Luis Antonio; Alcoceba, Miguel; Chillon, María Carmen; Jiménez, Cristina; Prieto, Isabel; García-Álvarez, María; Puig, Noemi; Rapado, Immaculada; Barrio, Santiago; Oriol, Albert; Blanchard, María Jesús; de la Rubia, Javier; Martínez, Rafael; Lahuerta, Juan José; González Díaz, Marcos; Mateos, María Victoria; San Miguel, Jesús Fernando; Martínez-López, Joaquín; Sarasquete, María Eugenia

2017-12-01

Bortezomib- and thalidomide-based therapies have significantly contributed to improved survival of multiple myeloma (MM) patients. However, treatment-induced peripheral neuropathy (TiPN) is a common adverse event associated with them. Risk factors for TiPN in MM patients include advanced age, prior neuropathy, and other drugs, but there are conflicting results about the role of genetics in predicting the risk of TiPN. Thus, we carried out a genome-wide association study based on more than 300 000 exome single nucleotide polymorphisms in 172 MM patients receiving therapy involving bortezomib and thalidomide. We compared patients developing and not developing TiPN under similar treatment conditions (GEM05MAS65, NCT00443235). The highest-ranking single nucleotide polymorphism was rs45443101, located in the PLCG2 gene, but no significant differences were found after multiple comparison correction (adjusted P = .1708). Prediction analyses, cytoband enrichment, and pathway analyses were also performed, but none yielded any significant findings. A copy number approach was also explored, but this gave no significant results either. In summary, our study did not find a consistent genetic component associated with TiPN under bortezomib and thalidomide therapies that could be used for prediction, which makes clinical judgment essential in the practical management of MM treatment. Copyright © 2016 John Wiley & Sons, Ltd.

Multiple organ histopathological changes in broiler chickens fed on genetically modified organism.

Science.gov (United States)

Cîrnatu, Daniela; Jompan, A; Sin, Anca Ileana; Zugravu, Cornelia Aurelia

2011-01-01

Diet can influence the structural characteristics of internal organs. An experiment involving 130 meat broilers was conducted during 42 days (life term for a meat broiler) to study the effect of feed with protein from genetically modified soy. The 1-day-old birds were randomly allocated to five study groups, fed with soy, sunflower, wheat, fish flour, PC starter. In the diet of each group, an amount of protein from soy was replaced with genetically modified soy (I - 0%, II - 25%, III - 50%, IV - 75%, V - 100% protein from genetically modified soy). The level of protein in soy, either modified, or non-modified, was the same. Organs and carcass weights were measured at about 42 days of age of the birds and histopathology exams were performed during May-June 2009. No statistically significant differences were observed in mortality, growth performance variables or carcass and organ yields between broilers consuming diets produced with genetically modified soybean fractions and those consuming diets produced with near-isoline control soybean fractions. Inflammatory and degenerative liver lesions, muscle hypertrophy, hemorrhagic necrosis of bursa, kidney focal tubular necrosis, necrosis and superficial ulceration of bowel and pancreatic dystrophies were found in tissues from broilers fed on protein from genetically modified soy. Different types of lesions found in our study might be due to other causes (parasites, viral) superimposed but their presence exclusively in groups fed with modified soy raises some serious questions about the consequences of use of this type of feed.

Genetic parameters of wool colour and skin traits in Corriedale sheep

Directory of Open Access Journals (Sweden)

M.V. Benavides

2003-01-01

Full Text Available Clean wool colour (CWC is an important wool price determinant and has been related to suint characteristics, i.e. sudoriparous and sebaceous gland secretions, such as suint percentage and suint K content. In this work heritability, phenotypic and genetic correlations among wool colour and skin traits were examined. The genetic estimates were assessed by Restricted Maximum Likelihood (REML procedures using average information algorithm (AIREML in a Corriedale flock. The traits analysed were wool colour traits (CWC, yellow predictive colour (YPC, and Visual Score; suint traits such as suint percentage and potassium and sodium concentrations in suint, and physiological traits such as potassium and sodium concentrations in the skin, including plasma and red blood cells. The objectives of this study were to assess phenotypic and genetic correlations between wool colour and skin traits, and to find the suitability of these traits as indirect selection criteria for clean wool colour. Suint traits were highly genetically correlated to YPC. Suint K, but not suint percentage, was found to have a high genetic correlation with CWC. Skin K, Visual Score, YPC and suint K were amongst the best indirect selection criteria for clean wool colour. However, selection using these traits was expected to reduce CWC from 52% to 49% of that estimated under direct selection.

An Enhanced Genetic Approach to Composing Cooperative Learning Groups for Multiple Grouping Criteria

Science.gov (United States)

Hwang, Gwo-Jen; Yin, Peng-Yeng; Hwang, Chi-Wei; Tsai, Chin-Chung

2008-01-01

Cooperative learning is known to be an effective educational strategy in enhancing the learning performance of students. The goal of a cooperative learning group is to maximize all members' learning efficacy. This is accomplished via promoting each other's success, through assisting, sharing, mentoring, explaining, and encouragement. To achieve…

New trends in bioanalytical tools for the detection of genetically modified organisms: an update.

Science.gov (United States)

Michelini, Elisa; Simoni, Patrizia; Cevenini, Luca; Mezzanotte, Laura; Roda, Aldo

2008-10-01

Despite the controversies surrounding genetically modified organisms (GMOs), the production of GM crops is increasing, especially in developing countries. Thanks to new technologies involving genetic engineering and unprecedented access to genomic resources, the next decade will certainly see exponential growth in GMO production. Indeed, EU regulations based on the precautionary principle require any food containing more than 0.9% GM content to be labeled as such. The implementation of these regulations necessitates sampling protocols, the availability of certified reference materials and analytical methodologies that allow the accurate determination of the content of GMOs. In order to qualify for the validation process, a method should fulfil some criteria, defined as "acceptance criteria" by the European Network of GMO Laboratories (ENGL). Several methods have recently been developed for GMO detection and quantitation, mostly based on polymerase chain reaction (PCR) technology. PCR (including its different formats, e.g., double competitive PCR and real-time PCR) remains the technique of choice, thanks to its ability to detect even small amounts of transgenes in raw materials and processed foods. Other approaches relying on DNA detection are based on quartz crystal microbalance piezoelectric biosensors, dry reagent dipstick-type sensors and surface plasmon resonance sensors. The application of visible/near-infrared (vis/NIR) spectroscopy or mass spectrometry combined with chemometrics techniques has also been envisaged as a powerful GMO detection tool. Furthermore, in order to cope with the multiplicity of GMOs released onto the market, the new challenge is the development of routine detection systems for the simultaneous detection of numerous GMOs, including unknown GMOs.

Multiple relay selection for delay-limited applications

KAUST Repository

Alsharoa, Ahmad M.

2013-12-01

A multiple relay selection system model that implements the decode-and-forward mode is investigated. All communication nodes are assumed to be equipped by multiple antennas. Furthermore, lattices space-time coded multiple-input multiple-output half duplex channel is applied. The main goal is to increase the throughput of the system by selecting multiple number of relays. The selection criteria depends on the maximum decoding delay at relays where the system implements a decoding time-out algorithm at each relay. This leads to a significant saving in the overall system power consumptions and attempts to solve the relays synchronization problem. All results are presented using numerical simulations. © 2012 IEEE.

Structural model analysis of multiple quantitative traits.

Directory of Open Access Journals (Sweden)

Renhua Li

2006-07-01

Full Text Available We introduce a method for the analysis of multilocus, multitrait genetic data that provides an intuitive and precise characterization of genetic architecture. We show that it is possible to infer the magnitude and direction of causal relationships among multiple correlated phenotypes and illustrate the technique using body composition and bone density data from mouse intercross populations. Using these techniques we are able to distinguish genetic loci that affect adiposity from those that affect overall body size and thus reveal a shortcoming of standardized measures such as body mass index that are widely used in obesity research. The identification of causal networks sheds light on the nature of genetic heterogeneity and pleiotropy in complex genetic systems.

A simple method for combining genetic mapping data from multiple crosses and experimental designs.

Directory of Open Access Journals (Sweden)

Jeremy L Peirce

Full Text Available BACKGROUND: Over the past decade many linkage studies have defined chromosomal intervals containing polymorphisms that modulate a variety of traits. Many phenotypes are now associated with enough mapping data that meta-analysis could help refine locations of known QTLs and detect many novel QTLs. METHODOLOGY/PRINCIPAL FINDINGS: We describe a simple approach to combining QTL mapping results for multiple studies and demonstrate its utility using two hippocampus weight loci. Using data taken from two populations, a recombinant inbred strain set and an advanced intercross population we demonstrate considerable improvements in significance and resolution for both loci. 1-LOD support intervals were improved 51% for Hipp1a and 37% for Hipp9a. We first generate locus-wise permuted P-values for association with the phenotype from multiple maps, which can be done using a permutation method appropriate to each population. These results are then assigned to defined physical positions by interpolation between markers with known physical and genetic positions. We then use Fisher's combination test to combine position-by-position probabilities among experiments. Finally, we calculate genome-wide combined P-values by generating locus-specific P-values for each permuted map for each experiment. These permuted maps are then sampled with replacement and combined. The distribution of best locus-specific P-values for each combined map is the null distribution of genome-wide adjusted P-values. CONCLUSIONS/SIGNIFICANCE: Our approach is applicable to a wide variety of segregating and non-segregating mapping populations, facilitates rapid refinement of physical QTL position, is complementary to other QTL fine mapping methods, and provides an appropriate genome-wide criterion of significance for combined mapping results.

SUMMIT (Serially Unified Multicenter Multiple Sclerosis Investigation): creating a repository of deeply phenotyped contemporary multiple sclerosis cohorts.

Science.gov (United States)

Bove, Riley; Chitnis, Tanuja; Cree, Bruce Ac; Tintoré, Mar; Naegelin, Yvonne; Uitdehaag, Bernard Mj; Kappos, Ludwig; Khoury, Samia J; Montalban, Xavier; Hauser, Stephen L; Weiner, Howard L

2017-08-01

There is a pressing need for robust longitudinal cohort studies in the modern treatment era of multiple sclerosis. Build a multiple sclerosis (MS) cohort repository to capture the variability of disability accumulation, as well as provide the depth of characterization (clinical, radiologic, genetic, biospecimens) required to adequately model and ultimately predict a patient's course. Serially Unified Multicenter Multiple Sclerosis Investigation (SUMMIT) is an international multi-center, prospectively enrolled cohort with over a decade of comprehensive follow-up on more than 1000 patients from two large North American academic MS Centers (Brigham and Women's Hospital (Comprehensive Longitudinal Investigation of Multiple Sclerosis at the Brigham and Women's Hospital (CLIMB; BWH)) and University of California, San Francisco (Expression/genomics, Proteomics, Imaging, and Clinical (EPIC))). It is bringing online more than 2500 patients from additional international MS Centers (Basel (Universitätsspital Basel (UHB)), VU University Medical Center MS Center Amsterdam (MSCA), Multiple Sclerosis Center of Catalonia-Vall d'Hebron Hospital (Barcelona clinically isolated syndrome (CIS) cohort), and American University of Beirut Medical Center (AUBMC-Multiple Sclerosis Interdisciplinary Research (AMIR)). We provide evidence for harmonization of two of the initial cohorts in terms of the characterization of demographics, disease, and treatment-related variables; demonstrate several proof-of-principle analyses examining genetic and radiologic predictors of disease progression; and discuss the steps involved in expanding SUMMIT into a repository accessible to the broader scientific community.

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?

Directory of Open Access Journals (Sweden)

Erdas Enrico

2012-12-01

Full Text Available Abstract Background Diagnosis of multiple endocrine neoplasia type 1 (MEN1 is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT in which genetic testing failed to detect germline mutations of MEN-1 and other known genes responsible for MEN1. Case presentation The patient, a 65-year old woman, had been suffering for more than 1 year from weakness, progressive weight loss, angular cheilitis, glossitis and, more recently, skin rashes on the perineum, perioral skin and groin folds. After multidisciplinary investigations, functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither MEN-1 nor other gene mutations responsible for rarer cases of MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, CDKN2C/p18, CDKN2B/p21. The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and 99mTc-sestamibi scan with SPECT acquisition. Total thyroidectomy was performed, whereas selective parathyroidectomy was preferred to a more extensive procedure because the diagnosis of MEN1 was not supported by genetic analysis and intraoperative intact parathyroid hormone had revealed “adenoma-like” kinetics after the second parathyroid resection. Thirty-nine and 25 months after respectively the first and the second operation, the patient is well

HYDRA: Revealing heterogeneity of imaging and genetic patterns through a multiple max-margin discriminative analysis framework.

Science.gov (United States)

Varol, Erdem; Sotiras, Aristeidis; Davatzikos, Christos

2017-01-15

Multivariate pattern analysis techniques have been increasingly used over the past decade to derive highly sensitive and specific biomarkers of diseases on an individual basis. The driving assumption behind the vast majority of the existing methodologies is that a single imaging pattern can distinguish between healthy and diseased populations, or between two subgroups of patients (e.g., progressors vs. non-progressors). This assumption effectively ignores the ample evidence for the heterogeneous nature of brain diseases. Neurodegenerative, neuropsychiatric and neurodevelopmental disorders are largely characterized by high clinical heterogeneity, which likely stems in part from underlying neuroanatomical heterogeneity of various pathologies. Detecting and characterizing heterogeneity may deepen our understanding of disease mechanisms and lead to patient-specific treatments. However, few approaches tackle disease subtype discovery in a principled machine learning framework. To address this challenge, we present a novel non-linear learning algorithm for simultaneous binary classification and subtype identification, termed HYDRA (Heterogeneity through Discriminative Analysis). Neuroanatomical subtypes are effectively captured by multiple linear hyperplanes, which form a convex polytope that separates two groups (e.g., healthy controls from pathologic samples); each face of this polytope effectively defines a disease subtype. We validated HYDRA on simulated and clinical data. In the latter case, we applied the proposed method independently to the imaging and genetic datasets of the Alzheimer's Disease Neuroimaging Initiative (ADNI 1) study. The imaging dataset consisted of T1-weighted volumetric magnetic resonance images of 123 AD patients and 177 controls. The genetic dataset consisted of single nucleotide polymorphism information of 103 AD patients and 139 controls. We identified 3 reproducible subtypes of atrophy in AD relative to controls: (1) diffuse and extensive

Unleashing the power of human genetic variation knowledge: New Zealand stakeholder perspectives.

Science.gov (United States)

Gu, Yulong; Warren, James Roy; Day, Karen Jean

2011-01-01

This study aimed to characterize the challenges in using genetic information in health care and to identify opportunities for improvement. Taking a grounded theory approach, semistructured interviews were conducted with 48 participants to collect multiple stakeholder perspectives on genetic services in New Zealand. Three themes emerged from the data: (1) four service delivery models were identified in operation, including both those expected models involving genetic counselors and variations that do not route through the formal genetic service program; (2) multiple barriers to sharing and using genetic information were perceived, including technological, organizational, institutional, legal, ethical, and social issues; and (3) impediments to wider use of genetic testing technology, including variable understanding of genetic test utilities among clinicians and the limited capacity of clinical genetic services. Targeting these problems, information technologies and knowledge management tools have the potential to support key tasks in genetic services delivery, improve knowledge processes, and enhance knowledge networks. Because of the effect of issues in genetic information and knowledge management, the potential of human genetic variation knowledge to enhance health care delivery has been put on a "leash."

Capability of multiple selection criteria to evaluate contrasting spring wheat germplasms under arid conditions

International Nuclear Information System (INIS)

Al-Suhaibani, N. A.; SALAH, E.; El-Hendawy, S. E.; Al-Gaadi, K.; Rehman, S. U.

2015-01-01

Selection criteria that would evaluate a large number of germplasm in a rapid and non-destructive manner would be considered advantageous in plant breeding programs. Trade-off between traditional and non-destructive screening criteria in evaluating 90 wheat accessions under water shortage was tested using multivariate statistical techniques. Only three irrigations during the growing cycle of germplasm were applied with the amount of water totalling 2550 m /sup 3/ ha /sup -1/. Sequential path analysis identified one traditional trait (grain weight per plant) and two non-destructive traits (leaf area index and stomatal conductance) as important first-order traits that influenced final grain yield. The three traits, taken together, explained 96.8 percentage of the total variation in grain yield. Total dry weight per plant, green leaf area per plant, harvest index, grain number per plant, leaf water content and canopy temperature were identified as important second-order traits that influenced grain yield. Although canopy temperature was ranked as a second-order trait, it explained 64.4 percentage of the total variation in stomatal conductance. Approximately 78.0 percentage of the total variation in grain weight or leaf area index was explained by the leaf water content (66.2 percentage) and total dry weight (11.5 percentage). The 90 examined spring wheat germplasms were grouped into five clusters based on all agro-physiological traits using the centroid linkage method. The tested wheat germplasm that produce high grain yield under water shortage were characterised by good performance of certain rapid, easy and non-destructive physiological traits such as high leaf area index, high stomatal conductance and low canopy temperature. Therefore, these three traits could be used in combination as quick and easy screening criteria to select suitable genotypes for water-limiting conditions. (author)

Dynamic Educational e-Content Selection Using Multiple Criteria in Web-Based Personalized Learning Environments.

Science.gov (United States)

Manouselis, Nikos; Sampson, Demetrios

This paper focuses on the way a multi-criteria decision making methodology is applied in the case of agent-based selection of offered learning objects. The problem of selection is modeled as a decision making one, with the decision variables being the learner model and the learning objects' educational description. In this way, selection of…

A Multi-criteria neutrosophic group decision making metod based TOPSIS for supplier selection

OpenAIRE

Şahin, Rıdvan; Yiğider, Muhammed

2014-01-01

The process of multiple criteria decision making (MCDM) is of determining the best choice among all of the probable alternatives. The problem of supplier selection on which decision maker has usually vague and imprecise knowledge is a typical example of multi criteria group decision-making problem. The conventional crisp techniques has not much effective for solving MCDM problems because of imprecise or fuzziness nature of the linguistic assessments. To find the exact values for MCDM problems...

Genetics Home Reference: Noonan syndrome with multiple lentigines

Science.gov (United States)

... of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart ... individuals may have thousands of small dark brown skin spots by the time they reach puberty. Unlike freckles, ...

Human genetics of infectious diseases: a unified theory

OpenAIRE

Casanova, Jean-Laurent; Abel, Laurent

2007-01-01

Since the early 1950s, the dominant paradigm in the human genetics of infectious diseases postulates that rare monogenic immunodeficiencies confer vulnerability to multiple infectious diseases (one gene, multiple infections), whereas common infections are associated with the polygenic inheritance of multiple susceptibility genes (one infection, multiple genes). Recent studies, since 1996 in particular, have challenged this view. A newly recognised group of primary immunodeficiencies predispos...

National genetic improvement programmes in the United States beef ...

African Journals Online (AJOL)

cattle industry is accepting, in fact, demanding estimates of genetic values on yearling bulls. Single and multiple analy ... ordinary event occurred with the formation of the Beef ... assumed genetic trend was non-existent or relatively unimportant ...

Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

Science.gov (United States)

Kunogi, Makiko; Kurihara, Masatoshi; Ikegami, Takako Shigihara; Kobayashi, Toshiyuki; Shindo, Noriko; Kumasaka, Toshio; Gunji, Yoko; Kikkawa, Mika; Iwakami, Shin-ichiro; Hino, Okio; Takahashi, Kazuhisa

2010-01-01

Background Birt–Hogg–Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. Objectives BHDS may be caused by a germline deletion which cannot be detected by a conventional genetic approach. Real-time quantitative polymerase chain reaction (qPCR) may be able to identify such a mutation and thus provide us with a more accurate clinical picture of BHDS. Methods This study analysed 36 patients with multiple lung cysts of undetermined causes. Denaturing high performance liquid chromatography (DHPLC) was applied for mutation screening. If no abnormality was detected by DHPLC, the amount of each FLCN exon in genome was quantified by qPCR. Results An FLCN germline mutation was found in 23 (63.9%) of the 36 patients by DHPLC and direct sequencing (13 unique small nucleotide alterations which included 11 novel mutations). A large genomic deletion was identified in two of the remaining 13 patients by qPCR (one patient with exon 14 deletion and one patient with a deletion encompassing exons 9 to 14). Mutations including genomic deletions were most frequently identified in the 3′-end of the FLCN gene including exons 12 and 13 (13/25=52.0%). The BHDS patients whose multiple cysts prompted the diagnosis in this study showed a very low incidence of skin and renal involvement. Conclusions BHDS is due to large deletions as well as small nucleotide alterations. Racial differences may occur between Japanese and patients of European decent in terms of FLCN mutations and clinical manifestations. PMID:20413710

Shedding subspecies: The influence of genetics on reptile subspecies taxonomy.

Science.gov (United States)

Torstrom, Shannon M; Pangle, Kevin L; Swanson, Bradley J

2014-07-01

The subspecies concept influences multiple aspects of biology and management. The 'molecular revolution' altered traditional methods (morphological traits) of subspecies classification by applying genetic analyses resulting in alternative or contradictory classifications. We evaluated recent reptile literature for bias in the recommendations regarding subspecies status when genetic data were included. Reviewing characteristics of the study, genetic variables, genetic distance values and noting the species concepts, we found that subspecies were more likely elevated to species when using genetic analysis. However, there was no predictive relationship between variables used and taxonomic recommendation. There was a significant difference between the median genetic distance values when researchers elevated or collapsed a subspecies. Our review found nine different concepts of species used when recommending taxonomic change, and studies incorporating multiple species concepts were more likely to recommend a taxonomic change. Since using genetic techniques significantly alter reptile taxonomy there is a need to establish a standard method to determine the species-subspecies boundary in order to effectively use the subspecies classification for research and conservation purposes. Copyright © 2014 Elsevier Inc. All rights reserved.

Linguistic hesitant fuzzy multi-criteria decision-making method based on evidential reasoning

Science.gov (United States)

Zhou, Huan; Wang, Jian-qiang; Zhang, Hong-yu; Chen, Xiao-hong

2016-01-01

Linguistic hesitant fuzzy sets (LHFSs), which can be used to represent decision-makers' qualitative preferences as well as reflect their hesitancy and inconsistency, have attracted a great deal of attention due to their flexibility and efficiency. This paper focuses on a multi-criteria decision-making approach that combines LHFSs with the evidential reasoning (ER) method. After reviewing existing studies of LHFSs, a new order relationship and Hamming distance between LHFSs are introduced and some linguistic scale functions are applied. Then, the ER algorithm is used to aggregate the distributed assessment of each alternative. Subsequently, the set of aggregated alternatives on criteria are further aggregated to get the overall value of each alternative. Furthermore, a nonlinear programming model is developed and genetic algorithms are used to obtain the optimal weights of the criteria. Finally, two illustrative examples are provided to show the feasibility and usability of the method, and comparison analysis with the existing method is made.

Criteria definition and approaches in green supplier selection – a case study for raw material and packaging of food industry

OpenAIRE

Narges Banaeian; Hossein Mobli; Izabela Ewa Nielsen; Mahmoud Omid

2015-01-01

This paper formulates an integrated framework for deciding about the green supplier selection criteria in food supply chain and also proposes different methods that account for single and multiple sourcing of supplier selection. Green supplier selection relies on green criteria, so determination of suitable set of criteria will affect decision-maker results directly. In this research, an operational model including combination of general and environmental criteria is introduced for green supp...

Oxidative Stress Markers and Genetic Polymorphisms of Glutathione ...

African Journals Online (AJOL)

Hence, we evaluated the serum levels of oxidative stress markers and investigated genetic polymorphisms of glutathione S-transferase associated with autism. Materials and Methods: Forty-two children clinically diagnosed with ASD using the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) criteria and a ...

Impulsive Delayed Reward Discounting as a Genetically-Influenced Target for Drug Abuse Prevention: A Critical Evaluation

Directory of Open Access Journals (Sweden)

Joshua C. Gray

2015-09-01

Full Text Available This review evaluates the viability of delayed reward discounting (DRD, an index of how much an individual devalues a future reward based on its delay in time, for genetically-informed drug abuse prevention. A review of the literature suggests that impulsive DRD is robustly associated with drug addiction and meets most of the criteria for being an endophenotype, albeit with mixed findings for specific molecular genetic influences. Several modes of experimental manipulation have been demonstrated to reduce DRD acutely. These include behavioral strategies, such as mindfulness, reward bundling, and episodic future thinking; pharmacological interventions, including noradrengic agonists, adrenergic agonists, and multiple monoamine agonists; and neuromodulatory interventions, such as transcranial magnetic stimulation and transcranial direct current stimulation. However, the generalization of these interventions to positive clinical outcomes remains unclear and no studies to date have examined interventions on DRD in the context of prevention. Collectively, these findings suggest it would be premature to target DRD for genetically-informed prevention. Indeed, given the evidence of environmental contributions such as early life adversity to impulsive DRD, whether genetically-informed secondary prevention would ever be warranted is debatable. However, progress in identifying polymorphisms associated with DRD preference could further clarify the underlying biological systems implicated in impulsive DRD for further progress in pharmacological and neuromodulatory interventions. Furthermore, independent of genetically-informed prevention, impulsive DRD is a qualitatively different risk factor from existing prevention programs and is generally worthy of investigation as a novel and promising drug abuse prevention target.

A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma.

Science.gov (United States)

Jiménez, Cristina; Jara-Acevedo, María; Corchete, Luis A; Castillo, David; Ordóñez, Gonzalo R; Sarasquete, María E; Puig, Noemí; Martínez-López, Joaquín; Prieto-Conde, María I; García-Álvarez, María; Chillón, María C; Balanzategui, Ana; Alcoceba, Miguel; Oriol, Albert; Rosiñol, Laura; Palomera, Luis; Teruel, Ana I; Lahuerta, Juan J; Bladé, Joan; Mateos, María V; Orfão, Alberto; San Miguel, Jesús F; González, Marcos; Gutiérrez, Norma C; García-Sanz, Ramón

2017-01-01

Identification and characterization of genetic alterations are essential for diagnosis of multiple myeloma and may guide therapeutic decisions. Currently, genomic analysis of myeloma to cover the diverse range of alterations with prognostic impact requires fluorescence in situ hybridization (FISH), single nucleotide polymorphism arrays, and sequencing techniques, which are costly and labor intensive and require large numbers of plasma cells. To overcome these limitations, we designed a targeted-capture next-generation sequencing approach for one-step identification of IGH translocations, V(D)J clonal rearrangements, the IgH isotype, and somatic mutations to rapidly identify risk groups and specific targetable molecular lesions. Forty-eight newly diagnosed myeloma patients were tested with the panel, which included IGH and six genes that are recurrently mutated in myeloma: NRAS, KRAS, HRAS, TP53, MYC, and BRAF. We identified 14 of 17 IGH translocations previously detected by FISH and three confirmed translocations not detected by FISH, with the additional advantage of breakpoint identification, which can be used as a target for evaluating minimal residual disease. IgH subclass and V(D)J rearrangements were identified in 77% and 65% of patients, respectively. Mutation analysis revealed the presence of missense protein-coding alterations in at least one of the evaluating genes in 16 of 48 patients (33%). This method may represent a time- and cost-effective diagnostic method for the molecular characterization of multiple myeloma. Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

A genetic perspective on the proposed inclusion of cannabis withdrawal in the DSM-5

Science.gov (United States)

Verweij, K.J.H.; Agrawal, A.; Nat, N.O.; Creemers, H.E.; Huizink, A.C.; Martin, N.G.; Lynskey, M.T.

2013-01-01

Background Various studies support the inclusion of cannabis withdrawal to the diagnosis of cannabis use disorders in the upcoming DSM-5. The aims of the current study were to (1) estimate the prevalence of DSM-5 cannabis withdrawal (Criterion B), (2) estimate the role of genetic and environmental influences on individual differences in cannabis withdrawal, and (3) determine the extent to which genetic and environmental influences on cannabis withdrawal overlap with those on DSM-IV defined abuse/dependence. Methods The sample included 2276 lifetime cannabis-using adult Australian twins. Cannabis withdrawal was defined in accordance with Criterion B of the proposed DSM-5 revisions. Cannabis abuse/dependence was defined as endorsing one or more DSM-IV criteria of abuse or three or more dependence criteria. The classical twin model was used to estimate the genetic and environmental influences on variation in cannabis withdrawal, as well as its covariation with abuse/dependence. Results Of all cannabis users 11.9% met criteria for cannabis withdrawal. Around 50% of between-individual variation in withdrawal could be attributed to additive genetic variation, and the rest of the variation was mostly due to non-shared environmental influences. Importantly, the genetic influences on cannabis withdrawal almost completely (99%) overlapped with those on abuse/dependence. Conclusions We showed that cannabis withdrawal symptoms exist among cannabis users, and that cannabis withdrawal is moderately heritable. Genetic influences on cannabis withdrawal are the same as those influencing abuse/dependence. These results add to the wealth of literature that recommends the addition of cannabis withdrawal to the diagnosis of DSM-5 cannabis use disorders. PMID:23194657

Clustering and Genetic Algorithm Based Hybrid Flowshop Scheduling with Multiple Operations

Directory of Open Access Journals (Sweden)

Yingfeng Zhang

2014-01-01

Full Text Available This research is motivated by a flowshop scheduling problem of our collaborative manufacturing company for aeronautic products. The heat-treatment stage (HTS and precision forging stage (PFS of the case are selected as a two-stage hybrid flowshop system. In HTS, there are four parallel machines and each machine can process a batch of jobs simultaneously. In PFS, there are two machines. Each machine can install any module of the four modules for processing the workpeices with different sizes. The problem is characterized by many constraints, such as batching operation, blocking environment, and setup time and working time limitations of modules, and so forth. In order to deal with the above special characteristics, the clustering and genetic algorithm is used to calculate the good solution for the two-stage hybrid flowshop problem. The clustering is used to group the jobs according to the processing ranges of the different modules of PFS. The genetic algorithm is used to schedule the optimal sequence of the grouped jobs for the HTS and PFS. Finally, a case study is used to demonstrate the efficiency and effectiveness of the designed genetic algorithm.

A markerless protocol for genetic analysis of Aggregatibacter actinomycetemcomitans

Science.gov (United States)

Cheng, Ya-An; Jee, Jason; Hsu, Genie; Huang, Yanyan; Chen, Casey; Lin, Chun-Pin

2015-01-01

Background/Purpose The genomes of different Aggregatibacter actinomycetemcomitans strains contain many strain-specific genes and genomic islands (defined as DNA found in some but not all strains) of unknown functions. Genetic analysis for the functions of these islands will be constrained by the limited availability of genetic markers and vectors for A. actinomycetemcomitans. In this study we tested a novel genetic approach of gene deletion and restoration in a naturally competent A. actinomycetemcomitans strain D7S-1. Methods Specific genes’ deletion mutants and mutants restored with the deleted genes were constructed by a markerless loxP/Cre system. In mutants with sequential deletion of multiple genes loxP with different spacer regions were used to avoid unwanted recombinations between loxP sites. Results Eight single-gene deletion mutants, four multiple-gene deletion mutants, and two mutants with restored genes were constructed. No unintended non-specific deletion mutants were generated by this protocol. The protocol did not negatively affect the growth and biofilm formation of A. actinomycetemcomitans. Conclusion The protocol described in this study is efficient and specific for genetic manipulation of A. actinomycetemcomitans, and will be amenable for functional analysis of multiple genes in A. actinomycetemcomitans. PMID:24530245

Establishing politically feasible water markets: a multi-criteria approach.

Science.gov (United States)

Ballestero, Enrique; Alarcón, Silverio; García-Bernabeu, Ana

2002-08-01

A multiple criteria decision-making (MCDM) model to simulate the establishment of water markets is developed. The environment is an irrigated area governed by a non-profit agency, which is responsible for water production, allocation, and pricing. There is a traditional situation of historical rights, average-cost pricing for water allocation, large quantities of water used, and inefficiency. A market-oriented policy could be implemented by accounting for ecological and political objectives such as saving groundwater and safeguarding historical rights while promoting economic efficiency. In this paper, a problem is solved by compromise programming, a multi-criteria technique based on the principles of Simonian logic. The model is theoretically developed and applied to the Lorca region in Spain near the Mediterranean Sea.

régression linéaire multiple

African Journals Online (AJOL)

Mots clés: Alcools et phénols – Représentation numérique de la structure chimique – Facteur acentrique – Régression linéaire multiple – Modèle RSP hybride. English Title: Structure / acentric factor relationship of alcohols and phenols: genetic algorithm – multiple linear regression approach. English Abstract. The acentric ...

Multiple-Criteria Decision Support for a Sustainable Supply Chain: Applications to the Fashion Industry

Directory of Open Access Journals (Sweden)

Kim Leng Poh

2017-10-01

Full Text Available With increasing globalization and international cooperation, the importance of sustainability management across supply chains has received much attention by companies across various industries. Companies therefore strive to implement effective and integrated sustainable supply chain management initiatives to improve their operational and economic performance while also minimizing unnecessary damage to the environment and maintaining their social reputation and images. The paper presents an easy-to-use decision-support approach based on multiple-criteria decision-making (MCDM methodologies that aim to help companies develop effective models for timely decision-making involving sustainable supply chain management strategies. The proposed approach can be used by practitioners to ultimately build a comprehensive Analytic Network Process model that will adequately capture and reveal all the interrelationships and interdependency among the elements in the problem, which is often a very difficult task. To facilitate and simplify this complex process, we propose that hierarchical thinking be used first to structure the essences of the problem capturing only the major issues, and an Analytic Hierarchy Process (AHP model be built. Users can learn from the modeling process and gain much insight into the problem. The AHP can then be extended to an Analytic Network Process (ANP model so as to capture the relationships and interdependencies among the elements. Our approach can reduce the sustainable expertise, effort and information that are often needed to build an ANP model from scratch. We apply our approach to the evaluation of sustainable supply chain management strategies for the fashion industry. Three main dimensions of sustainability—environmental, economic and social—are considered. Based on the literature, we identified four alternative supply chain management strategies. It was found that the Reverse Logistics alternative appears to be the

Patterns of genetic diversity of the cryptogenic red alga Polysiphonia morrowii (Ceramiales, Rhodophyta) suggest multiple origins of the Atlantic populations.

Science.gov (United States)

Geoffroy, Alexandre; Destombe, Christophe; Kim, Byeongseok; Mauger, Stéphane; Raffo, María Paula; Kim, Myung Sook; Le Gall, Line

2016-08-01

The red alga Polysiphonia morrowii, native to the North Pacific (Northeast Asia), has recently been reported worldwide. To determine the origin of the French and Argentine populations of this introduced species, we compared samples from these two areas with samples collected in Korea and at Hakodate, Japan, the type locality of the species. Combined analyses of chloroplastic (rbcL) and mitochondrial (cox1) DNA revealed that the French and Argentine populations are closely related and differ substantially from the Korean and Japanese populations. The genetic structure of P. morrowii populations from South Atlantic and North Atlantic, which showed high haplotype diversity compared with populations from the North Pacific, suggested the occurrence of multiple introduction events from areas outside of the so-called native regions. Although similar, the French and Argentine populations are not genetically identical. Thus, the genetic structure of these two introduced areas may have been modified by cryptic and recurrent introduction events directly from Asia or from other introduced areas that act as introduction relays. In addition, the large number of private cytoplasmic types identified in the two introduced regions strongly suggests that local populations of P. morrowii existed before the recent detection of these invasions. Our results suggest that the most likely scenario is that the source population(s) of the French and Argentine populations was not located only in the North Pacific and/or that P. morrowii is a cryptogenic species.

The total cost of logistics in supplier selection, under conditions of multiple sourcing, multiple criteria and capacity constraint

Directory of Open Access Journals (Sweden)

Elnaz Bani

2016-06-01

Full Text Available This paper presents a mathematical model to solve a multi-objective decision making supplier selection problem. The proposed problem considers three objective functions: the first objective function minimizes the cost of purchasing the products while the second objective function minimizes the due dates and finally the third objective function maximizes the customer satisfaction. The resulted problem is formulated as mixed integer programming and, therefore, we use invasive weed optimization technique to solve the resulted problem. The performance of the proposed model is compared with NSGA II based on different criteria such as mean ideal distance and quality matrix. The preliminary results indicate that the proposed model performs relatively well compared with alternative method.

Multiple Criteria Decision Making Combined with VRP: A Categorized Bibliographic Study

Directory of Open Access Journals (Sweden)

Yahia Zare Mehrjerdi

2015-08-01

Full Text Available In this research author reviews references related to the topic of multi criterion (goal programming, multiple objective linear and nonlinear programming, bi-criterion programming, Multi Attribute Decision Making, Compromise Programming, Surrogate Worth Trade-off Method and various versions of vehicle routing problem (VRP, Multi depot VRP (MDVRP, VRP with time windows (VRPWTW, Stochastic VRP (SVRP, Capacitated VRP (CVRP, Fuzzy VRP (FVRP, Location VRP (LVRP, Backhauling VRP(BHVRP, Facility Location VRP (FLVRP, and Inventory control VRP (ICVRP. Although, VRP is a research area with rich research works and powerful researchers there found only 81 articles that relates various vehicle routing type problems with various multiple objectives techniques. This author found that there is no research done in some areas of VRP (i.e., FVRP, ICVRP, LRP and CVRP. It is interesting to see that this research area was completely an unattractive to master students (with zero research reported and a somewhat attractive area to doctoral students (with 6 researches reported. Among the many multi criterion programming techniques available only three of them (goal programming, bi-criterion programming, linear and nonlinear multi objective programming are being employed to solve the problem.

Self-Consistent Criteria for Evaluation of Neutron Interaction

International Nuclear Information System (INIS)

Henry, H.F.; Newlon, C.E.; Knight, J.R.

2007-01-01

New safe interaction criteria for containers of fissionable materials handled at the Oak Ridge Gaseous Diffusion Plant have been developed on the basis of an interaction theory using the basic concepts of a safe solid angle subtended by interacting containers, and the multiplication factor as determined by two-group theory for an individually safe containers The calculated results agree satisfactorily with experimental data obtained with identical interacting units involving both cylinders and slabs containing highly enriched uranium, the core compositions of which were varied between H/U-235 atomic ratios of 44.3 and 337. The application of the derived interaction criteria to items containing material with low moderation or low U-235 assay, and to containers for which nuclear safety is dependent upon control of the U-235 mass or U-235 concentration is discussed.

Unifying diseases from a genetic point of view: the example of the genetic theory of infectious diseases.

Science.gov (United States)

Darrason, Marie

2013-08-01

In the contemporary biomedical literature, every disease is considered genetic. This extension of the concept of genetic disease is usually interpreted either in a trivial or genocentrist sense, but it is never taken seriously as the expression of a genetic theory of disease. However, a group of French researchers defend the idea of a genetic theory of infectious diseases. By identifying four common genetic mechanisms (Mendelian predisposition to multiple infections, Mendelian predisposition to one infection, and major gene and polygenic predispositions), they attempt to unify infectious diseases from a genetic point of view. In this article, I analyze this explicit example of a genetic theory, which relies on mechanisms and is applied only to a specific category of diseases, what we call "a regional genetic theory." I have three aims: to prove that a genetic theory of disease can be devoid of genocentrism, to consider the possibility of a genetic theory applied to every disease, and to introduce two hypotheses about the form that such a genetic theory could take by distinguishing between a genetic theory of diseases and a genetic theory of Disease. Finally, I suggest that network medicine could be an interesting framework for a genetic theory of Disease.

New Genetic Insights and Therapy in Multiple Myeloma

NARCIS (Netherlands)

K.L. Wu

2007-01-01

textabstractIn the last decade, several significant advances in myeloma therapy have occurred with the pace of change accelerated with the introduction of new anti-myeloma agents. The approach to the treatment of multiple myeloma has become more complex with an array of therapeutic options,

Gestational diabetes mellitus: Confusion among medical doctors caused by multiple international criteria.

Science.gov (United States)

Agarwal, Mukesh M; Shah, Syed M; Al Kaabi, Juma; Saquib, Shabnam; Othman, Yusra

2015-06-01

The aim of this study was to appraise the current regional practices of screening, diagnosis and follow-up of gestational diabetes mellitus (GDM) because the approach to GDM is frequently inconsistent. A 21-item questionnaire was distributed to physicians taking care of pregnant women in seven hospitals in the United Arab Emirates and one hospital in Oman. Besides assessing their attitudes towards testing for GDM, the questionnaire assessed familiarity with the Hyperglycemia and Pregnancy Outcome study and the International Association of Diabetes in Pregnancy Study Groups GDM guidelines. One hundred and forty-eight (93%) of the 159 questionnaires distributed to the medical doctors (106 [72%] obstetricians and 42 [28%] internists) were returned. For GDM screening, six hospitals used five different tests; two hospitals utilized one single test. For GDM diagnosis, six hospitals employed the 2-h, 75-g oral glucose tolerance test (OGTT) (four different criteria) while two hospitals used the 3-h, 100-g OGTT (single criteria). For post-delivery follow-up, the 2-h, 75-g OGTT and fasting plasma glucose were accepted by 103 (70%) and 38 (26%) of the 148 medical doctors, respectively. Ninety-eight (69%) of 143 responding physicians were aware of the Hyperglycemia and Pregnancy Outcome study, while 85 (61%) of 140 responders were familiar with the guidelines of the International Association of Diabetes in Pregnancy Study Groups; this knowledge was independent of specialty, seniority, academia, years in practice or country trained. Although this study is parochial, its implications are global; that is, further education of caregivers would make the discordant approach to GDM (within and between hospitals) more harmonious and improve the obstetric care of pregnant women. © 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

Genetic and environmental interactions

International Nuclear Information System (INIS)

Strong, L.C.

1977-01-01

Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

Genetic association of multiple sclerosis with the marker rs391745 near the endogenous retroviral locus HERV-Fc1: analysis of disease subtypes

DEFF Research Database (Denmark)

Hansen, Bettina; Oturai, Annette Bang; Harbo, Hanne F

2011-01-01

We have previously described the occurrence of multiple sclerosis (MS) to be associated with human endogenous retroviruses, specifically the X-linked viral locus HERV-Fc1. The aim of this study was to investigate a possible association of the HERV-Fc1 locus with subtypes of MS. MS patients......-Fc1 locus (p = 0.003), while primary progressive disease was not. The ability to see genetic differences between subtypes of MS near this gene speaks for the involvement of the virus HERV-Fc1 locus in modifying the disease course of MS....

Review Article Genetics of obesity and its measures in India

Indian Academy of Sciences (India)

ANKUR SAINI

examine the current knowledge of genetic basis of obesity and its measures in .... criteria were followed: (a) studies published in English language journals, (b) ..... Most of the studies conducted in India lack information on lifestyle risk factors ...

Genetic architecture of carbon isotope composition and growth in Eucalyptus across multiple environments.

Science.gov (United States)

Bartholomé, Jérôme; Mabiala, André; Savelli, Bruno; Bert, Didier; Brendel, Oliver; Plomion, Christophe; Gion, Jean-Marc

2015-06-01

In the context of climate change, the water-use efficiency (WUE) of highly productive tree varieties, such as eucalypts, has become a major issue for breeding programmes. This study set out to dissect the genetic architecture of carbon isotope composition (δ(13) C), a proxy of WUE, across several environments. A family of Eucalyptus urophylla × E. grandis was planted in three trials and phenotyped for δ(13) C and growth traits. High-resolution genetic maps enabled us to target genomic regions underlying δ(13) C quantitative trait loci (QTLs) on the E. grandis genome. Of the 15 QTLs identified for δ(13) C, nine were stable across the environments and three displayed significant QTL-by-environment interaction, suggesting medium to high genetic determinism for this trait. Only one colocalization was found between growth and δ(13) C. Gene ontology (GO) term enrichment analysis suggested candidate genes related to foliar δ(13) C, including two involved in the regulation of stomatal movements. This study provides the first report of the genetic architecture of δ(13) C and its relation to growth in Eucalyptus. The low correlations found between the two traits at phenotypic and genetic levels suggest the possibility of improving the WUE of Eucalyptus varieties without having an impact on breeding for growth. © 2015 CIRAD. New Phytologist © 2015 New Phytologist Trust.

Use of multiple genetic markers in prediction of breeding values.

NARCIS (Netherlands)

Arendonk, van J.A.M.; Tier, B.; Kinghorn, B.P.

1994-01-01

Genotypes at a marker locus give information on transmission of genes from parents to offspring and that information can be used in predicting the individuals' additive genetic value at a linked quantitative trait locus (MQTL). In this paper a recursive method is presented to build the gametic

State-of-the-Art Prescriptive Criteria Weight Elicitation

Directory of Open Access Journals (Sweden)

Mona Riabacke

2012-01-01

Full Text Available Comparatively few of the vast amounts of decision analytical methods suggested have been widely spread in actual practice. Some approaches have nevertheless been more successful in this respect than others. Quantitative decision making has moved from the study of decision theory founded on a single criterion towards decision support for more realistic decision-making situations with multiple, often conflicting, criteria. Furthermore, the identified gap between normative and descriptive theories seems to suggest a shift to more prescriptive approaches. However, when decision analysis applications are used to aid prescriptive decision-making processes, additional demands are put on these applications to adapt to the users and the context. In particular, the issue of weight elicitation is crucial. There are several techniques for deriving criteria weights from preference statements. This is a cognitively demanding task, subject to different biases, and the elicited values can be heavily dependent on the method of assessment. There have been a number of methods suggested for assessing criteria weights, but these methods have properties which impact their applicability in practice. This paper provides a survey of state-of-the-art weight elicitation methods in a prescriptive setting.

Multi-criteria decision making on strategic selection of wind farms

Energy Technology Data Exchange (ETDEWEB)

Lee, Amy H.I. [Department of Industrial Engineering and System Management, Chung Hua University, Hsinchu (China); Chen, Hsing Hung [Faculty of Management and Administration, Macau University of Science and Technology, Taipa (Macau); Kang, He-Yau [Department of Industrial Engineering and Management, National Chin-Yi University of Technology, Taiping, Taichung (China)

2009-01-15

With maturity of advanced technologies and urgent requirement for maintaining a healthy environment with reasonable price, China is moving toward a trend of generating electricity from renewable wind resources. How to select a suitable wind farm becomes an important focus for stakeholders. This paper first briefly introduces wind farm and then develops its critical success criteria. A new multi-criteria decision-making (MCDM) model, based on the analytic hierarchy process (AHP) associated with benefits, opportunities, costs and risks (BOCR), is proposed to help select a suitable wind farm project. Multiple factors that affect the success of wind farm operations are analyzed by taking into account experts' opinions, and a performance ranking of the wind farms is generated. (author)

[The character of the morphological changes of the mucous membrane of the large intestine and the genetic polymorphism of IL-1RA, IL-1B, IL-4 TNFA in patient with irritable bowel syndrome].

Science.gov (United States)

Sarsenbaeva, A S; Ivanova, E L; Burmistrova, A L; Drozdov, I V

2013-01-01

The aim of this study was to evaluate the presence or absence of a relationship between the variants of the course of IBS and their association with genetic polymorphisms of genes and intergenic interaction of cytokines. The sample consisted of 81 patients, the diagnosis was verified according to the criteria of the Rome III, were isolated psychopathological, morphological complications, extra-intestinal symptoms. Polymorphism genotyping IL-1Ra, IL-b, IL-4, TNFa performed by PCR. Statistical treatment are a non-parametric analysis of multiple comparisons, hierarchical log-linear analysis. It is found out the relation between the clinical variants with morphological changes of the mucous membrane of the large intestine, the association between gender characteristics of patients with IBS is established and with genetic polymorphisms of cytokines.

Genetic complexity underlying hybrid male sterility in Drosophila.

OpenAIRE

Sawamura, Kyoichi; Roote, John; Wu, Chung-I; Yamamoto, Masa-Toshi

2004-01-01

Recent genetic analyses of closely related species of Drosophila have indicated that hybrid male sterility is the consequence of highly complex synergistic effects among multiple genes, both conspecific and heterospecific. On the contrary, much evidence suggests the presence of major genes causing hybrid female sterility and inviability in the less-related species, D. melanogaster and D. simulans. Does this contrast reflect the genetic distance between species? Or, generally, is the genetic b...

The immunogenetics of multiple sclerosis

DEFF Research Database (Denmark)

Svejgaard, A.

2008-01-01

with complex genetic backgrounds. HLA controls immune response genes and HLA associations indicate the involvement of autoimmunity. Multiple sclerosis (MS) was one of the first conditions proven to be HLA associated involving primarily HLA class II factors. We review how HLA studies give fundamental...

Synthesizing genetic sequential logic circuit with clock pulse generator.

Science.gov (United States)

Chuang, Chia-Hua; Lin, Chun-Liang

2014-05-28

Rhythmic clock widely occurs in biological systems which controls several aspects of cell physiology. For the different cell types, it is supplied with various rhythmic frequencies. How to synthesize a specific clock signal is a preliminary but a necessary step to further development of a biological computer in the future. This paper presents a genetic sequential logic circuit with a clock pulse generator based on a synthesized genetic oscillator, which generates a consecutive clock signal whose frequency is an inverse integer multiple to that of the genetic oscillator. An analogous electronic waveform-shaping circuit is constructed by a series of genetic buffers to shape logic high/low levels of an oscillation input in a basic sinusoidal cycle and generate a pulse-width-modulated (PWM) output with various duty cycles. By controlling the threshold level of the genetic buffer, a genetic clock pulse signal with its frequency consistent to the genetic oscillator is synthesized. A synchronous genetic counter circuit based on the topology of the digital sequential logic circuit is triggered by the clock pulse to synthesize the clock signal with an inverse multiple frequency to the genetic oscillator. The function acts like a frequency divider in electronic circuits which plays a key role in the sequential logic circuit with specific operational frequency. A cascaded genetic logic circuit generating clock pulse signals is proposed. Based on analogous implement of digital sequential logic circuits, genetic sequential logic circuits can be constructed by the proposed approach to generate various clock signals from an oscillation signal.

[Reflections about the efficiency criteria for cancer treatments during marketing authorization application].

Science.gov (United States)

Jeannin, Noémie; Blois-Da Conceição, Stéphanie; Protière, Christel

2013-03-01

Although clear and validated recommendations exist concerning the evaluation of cancer treatments at the international level, the criteria retained to obtain the marketing authorization (MA) are multiple and heterogeneous. This qualitative survey explores the opinion related to the assessment of cancer treatment among the several concerned population. By the way of semi-structured interviews, our aim was to elicit perceptions toward the criteria which should be retained during the process of MA, by patients, oncologists, members of the pharmaceutical industry, health decision-makers and general population. Our survey emphasizes the variability of the significations associated with the criteria of efficiency of cancer treatments according to the characteristics of the respondents. We also have observed some common expectations from patients and oncologists toward the economic and political aspect, but also from the whole respondents toward the importance of the comfort of the patients. Lastly, the necessity to define specific criteria related to clinical cases emerges.

Multiple paternity in reptiles: patterns and processes.

Science.gov (United States)

Uller, Tobias; Olsson, Mats

2008-06-01

The evolution of female promiscuity poses an intriguing problem as benefits of mating with multiple males often have to arise via indirect, genetic, effects. Studies on birds have documented that multiple paternity is common in natural populations but strong evidence for selection via female benefits is lacking. In an attempt to evaluate the evidence more broadly, we review studies of multiple paternity in natural populations of all major groups of nonavian reptiles. Multiple paternity has been documented in all species investigated so far and commonly exists in over 50% of clutches, with particularly high levels in snakes and lizards. Marine turtles and lizards with prolonged pair-bonding have relatively low levels of multiple paternity but levels are nevertheless higher than in many vertebrates with parental care. There is no evidence that high levels of polyandry are driven by direct benefits to females and the evidence that multiple paternity arises from indirect genetic benefits is weak. Instead, we argue that the most parsimonious explanation for patterns of multiple paternity is that it represents the combined effect of mate-encounter frequency and conflict over mating rates between males and females driven by large male benefits and relatively small female costs, with only weak selection via indirect benefits. A crucial step for researchers is to move from correlative approaches to experimental tests of assumptions and predictions of theory under natural settings, using a combination of molecular techniques and behavioural observations.

International consensus diagnostic criteria for neuromyelitis optica spectrum disorders

Science.gov (United States)

Banwell, Brenda; Bennett, Jeffrey L.; Cabre, Philippe; Carroll, William; Chitnis, Tanuja; de Seze, Jérôme; Fujihara, Kazuo; Greenberg, Benjamin; Jacob, Anu; Jarius, Sven; Lana-Peixoto, Marco; Levy, Michael; Simon, Jack H.; Tenembaum, Silvia; Traboulsee, Anthony L.; Waters, Patrick; Wellik, Kay E.

2015-01-01

Neuromyelitis optica (NMO) is an inflammatory CNS syndrome distinct from multiple sclerosis (MS) that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). Prior NMO diagnostic criteria required optic nerve and spinal cord involvement but more restricted or more extensive CNS involvement may occur. The International Panel for NMO Diagnosis (IPND) was convened to develop revised diagnostic criteria using systematic literature reviews and electronic surveys to facilitate consensus. The new nomenclature defines the unifying term NMO spectrum disorders (NMOSD), which is stratified further by serologic testing (NMOSD with or without AQP4-IgG). The core clinical characteristics required for patients with NMOSD with AQP4-IgG include clinical syndromes or MRI findings related to optic nerve, spinal cord, area postrema, other brainstem, diencephalic, or cerebral presentations. More stringent clinical criteria, with additional neuroimaging findings, are required for diagnosis of NMOSD without AQP4-IgG or when serologic testing is unavailable. The IPND also proposed validation strategies and achieved consensus on pediatric NMOSD diagnosis and the concepts of monophasic NMOSD and opticospinal MS. PMID:26092914

Genetic mutations in Gorlin-Goltz syndrome

OpenAIRE

Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga

2013-01-01

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

Genetic mutations in Gorlin-Goltz syndrome.

Science.gov (United States)

Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga

2013-07-01

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.

Comparison between different selection criteria in the genetic evaluation of Valle del Belice sheep

Directory of Open Access Journals (Sweden)

F. Firpo

2011-03-01

Full Text Available Lactation length in dairy sheep affects milk yield like other genetic and environmental factors. The length of the production period is affected by management decisions such as culling, mating and particularly ranking of animals with different parity and lambing in different months or seasons. Moreover the low heritability of lactation length (Barillet and Boichard, 1987; Dahlin et al., 1998 does not allow its use as a selection criterion. For this reason to achieve a good reliability in phenotypic and genetic evaluation of dairy species, production variability caused by systematic environmental effects must be removed. This is of particular interest for dairy sheep and goats reared in Sicily, where the typical production system is based on pasture, and related food availability is strongly affected by seasonal and annual climatic variations, which results in considerable variations in daily yields........

Priority setting of health interventions: the need for multi-criteria decision analysis.

NARCIS (Netherlands)

Baltussen, R.M.P.M.; Niessen, L.

2006-01-01

ABSTRACT: Priority setting of health interventions is often ad-hoc and resources are not used to an optimal extent. Underlying problem is that multiple criteria play a role and decisions are complex. Interventions may be chosen to maximize general population health, to reduce health inequalities of

Immunity traits in pigs: substantial genetic variation and limited covariation.

Directory of Open Access Journals (Sweden)

Laurence Flori

Full Text Available BACKGROUND: Increasing robustness via improvement of resistance to pathogens is a major selection objective in livestock breeding. As resistance traits are difficult or impossible to measure directly, potential indirect criteria are measures of immune traits (ITs. Our underlying hypothesis is that levels of ITs with no focus on specific pathogens define an individual's immunocompetence and thus predict response to pathogens in general. Since variation in ITs depends on genetic, environmental and probably epigenetic factors, our aim was to estimate the relative importance of genetics. In this report, we present a large genetic survey of innate and adaptive ITs in pig families bred in the same environment. METHODOLOGY/PRINCIPAL FINDINGS: Fifty four ITs were studied on 443 Large White pigs vaccinated against Mycoplasma hyopneumoniae and analyzed by combining a principal component analysis (PCA and genetic parameter estimation. ITs include specific and non specific antibodies, seric inflammatory proteins, cell subsets by hemogram and flow cytometry, ex vivo production of cytokines (IFNα, TNFα, IL6, IL8, IL12, IFNγ, IL2, IL4, IL10, phagocytosis and lymphocyte proliferation. While six ITs had heritabilities that were weak or not significantly different from zero, 18 and 30 ITs had moderate (0.10.4 heritability values, respectively. Phenotypic and genetic correlations between ITs were weak except for a few traits that mostly include cell subsets. PCA revealed no cluster of innate or adaptive ITs. CONCLUSIONS/SIGNIFICANCE: Our results demonstrate that variation in many innate and adaptive ITs is genetically controlled in swine, as already reported for a smaller number of traits by other laboratories. A limited redundancy of the traits was also observed confirming the high degree of complementarity between innate and adaptive ITs. Our data provide a genetic framework for choosing ITs to be included as selection criteria in multitrait selection

Neurofibromatosis type 1 and multiple sclerosis: Genetically related ...

African Journals Online (AJOL)

Neurofibromatosis type I (NF1) is an autosomal dominant disorder with involvement of both the cutaneous and nervous systems. Patients are susceptible to neurological complication in the form of tumors of the brain and spinal cord. Multiple sclerosis (MS) is a chronic autoimmune disease that affects the myelinated axons ...

Portfolio Evaluation for Professional Competence: Credentialing in Genetics for Nurses.

Science.gov (United States)

Cook, Sarah Sheets; Kase, Ron; Middelton, Lindsay; Monsen, Rita Black

2003-01-01

Describes the process used by the Credentialing Committee of the International Society of Nurses in Genetics to validate evaluation criteria for nursing portfolios using neural network programs. Illustrates how standards are translated into measurable competencies and provides a scoring guide. (SK)

Magnetic resonance imaging in the diagnostics of multiple sclerosis

International Nuclear Information System (INIS)

Larsen, J.P.; Tjoerstad, K.; Kaass, B.; Oedegaard, H.

1987-01-01

Multiple sclerosis is an important and frequent neurological disease and the diagnosis might be difficult. The clinical criteria of multiple sclerosis and the role of laboratory examinations in the diagnosis of the disease are discussed. In particular the help offered by the magnetic resonance imaging method is the subject of this paper. Three patients are reported and discussed

Genetic diversity in Trichomonas vaginalis.

Science.gov (United States)

Meade, John C; Carlton, Jane M

2013-09-01

Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

How Sensitive Is Genetic Data?

Science.gov (United States)

Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene

2017-12-01

The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

Designing a solar powered Stirling heat engine based on multiple criteria: Maximized thermal efficiency and power

International Nuclear Information System (INIS)

Ahmadi, Mohammad Hossein; Sayyaadi, Hoseyn; Dehghani, Saeed; Hosseinzade, Hadi

2013-01-01

Highlights: • Thermodynamic model of a solar-dish Stirling engine was presented. • Thermal efficiency and output power of the engine were simultaneously maximized. • A final optimal solution was selected using several decision-making methods. • An optimal solution with least deviation from the ideal design was obtained. • Optimal solutions showed high sensitivity against variation of system parameters. - Abstract: A solar-powered high temperature differential Stirling engine was considered for optimization using multiple criteria. A thermal model was developed so that the output power and thermal efficiency of the solar Stirling system with finite rate of heat transfer, regenerative heat loss, conductive thermal bridging loss, finite regeneration process time and imperfect performance of the dish collector could be obtained. The output power and overall thermal efficiency were considered for simultaneous maximization. Multi-objective evolutionary algorithms (MOEAs) based on the NSGA-II algorithm were employed while the solar absorber temperature and the highest and lowest temperatures of the working fluid were considered the decision variables. The Pareto optimal frontier was obtained and a final optimal solution was also selected using various decision-making methods including the fuzzy Bellman–Zadeh, LINMAP and TOPSIS. It was found that multi-objective optimization could yield results with a relatively low deviation from the ideal solution in comparison to the conventional single objective approach. Furthermore, it was shown that, if the weight of thermal efficiency as one of the objective functions is considered to be greater than weight of the power objective, lower absorber temperature and low temperature ratio should be considered in the design of the Stirling engine

Research on Innovating, Applying Multiple Paths Routing Technique Based on Fuzzy Logic and Genetic Algorithm for Routing Messages in Service - Oriented Routing

Directory of Open Access Journals (Sweden)

Nguyen Thanh Long

2015-02-01

Full Text Available MANET (short for Mobile Ad-Hoc Network consists of a set of mobile network nodes, network configuration changes very fast. In content based routing, data is transferred from source node to request nodes is not based on destination addresses. Therefore, it is very flexible and reliable, because source node does not need to know destination nodes. If We can find multiple paths that satisfies bandwidth requirement, split the original message into multiple smaller messages to transmit concurrently on these paths. On destination nodes, combine separated messages into the original message. Hence it can utilize better network resources, causes data transfer rate to be higher, load balancing, failover. Service Oriented Routing is inherited from the model of content based routing (CBR, combined with several advanced techniques such as Multicast, multiple path routing, Genetic algorithm to increase the data rate, and data encryption to ensure information security. Fuzzy logic is a logical field study evaluating the accuracy of the results based on the approximation of the components involved, make decisions based on many factors relative accuracy based on experimental or mathematical proof. This article presents some techniques to support multiple path routing from one network node to a set of nodes with guaranteed quality of service. By using these techniques can decrease the network load, congestion, use network resources efficiently.

Location Study of Solar Thermal Power Plant in the State of Pernambuco Using Geoprocessing Technologies and Multiple-Criteria Analysis

Directory of Open Access Journals (Sweden)

Verônica Wilma B. Azevêdo

2017-07-01

Full Text Available Solar Thermal Technology for the generation of electricity in large scale has been a reality in the world since the 1980s, when the first large-sized solar plants in the United States were introduced. Brazil presents great potential for the development of large-scale projects, although it is noted that the main barriers for the insertion of this technology in Brazilian market are the lack of incentives and goals and associated costs. In a way to contribute to the insertion of solar thermal technology in Brazil, this paper presents a macro-spatial approach, based on the use of Multiple-Criteria Decision Analysis and Geoprocessing, for the location of solar thermal power plants. The applied methodology for Pernambuco, located in the Northeast Region of Brazil, considered the implantation of parabolic trough solar power plant of 80 MW, operating only in solar mode, without heat storage. Based on performed analysis, it was confirmed that Pernambuco presents great potential for the installation of solar power plants, especially in the backlands of Pernambuco. Performed validations in the model demonstrate that the methodology attended the objective once the consistence between the assigned weights to the thematic layers, individually, and the final Map of site suitability were evidenced.

Analyzing Population Genetics Data: A Comparison of the Software

Science.gov (United States)

Choosing a software program for analyzing population genetic data can be a challenge without prior knowledge of the methods used by each program. There are numerous web sites listing programs by type of data analyzed, type of analyses performed, or other criteria. Even with programs categorized in ...

Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: Do we need a scoring system?

NARCIS (Netherlands)

Hofman, Nynke; Wilde, Arthur A.M.; Kääb, Stefan; Van Langen, Irene M.; Tanck, Michael W.T.; Mannens, Marcel M.A.M.; Hinterseer, Martin; Beckmann, Britt-Maria; Tan, Hanno L.

2007-01-01

Aims: Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to

Pediatric Multiple Sclerosis: Genes, Environment, and a Comprehensive Therapeutic Approach.

Science.gov (United States)

Cappa, Ryan; Theroux, Liana; Brenton, J Nicholas

2017-10-01

Pediatric multiple sclerosis is an increasingly recognized and studied disorder that accounts for 3% to 10% of all patients with multiple sclerosis. The risk for pediatric multiple sclerosis is thought to reflect a complex interplay between environmental and genetic risk factors. Environmental exposures, including sunlight (ultraviolet radiation, vitamin D levels), infections (Epstein-Barr virus), passive smoking, and obesity, have been identified as potential risk factors in youth. Genetic predisposition contributes to the risk of multiple sclerosis, and the major histocompatibility complex on chromosome 6 makes the single largest contribution to susceptibility to multiple sclerosis. With the use of large-scale genome-wide association studies, other non-major histocompatibility complex alleles have been identified as independent risk factors for the disease. The bridge between environment and genes likely lies in the study of epigenetic processes, which are environmentally-influenced mechanisms through which gene expression may be modified. This article will review these topics to provide a framework for discussion of a comprehensive approach to counseling and ultimately treating the pediatric patient with multiple sclerosis. Copyright © 2017 Elsevier Inc. All rights reserved.

Identifying the connective strength between model parameters and performance criteria

Directory of Open Access Journals (Sweden)

B. Guse

2017-11-01

Full Text Available In hydrological models, parameters are used to represent the time-invariant characteristics of catchments and to capture different aspects of hydrological response. Hence, model parameters need to be identified based on their role in controlling the hydrological behaviour. For the identification of meaningful parameter values, multiple and complementary performance criteria are used that compare modelled and measured discharge time series. The reliability of the identification of hydrologically meaningful model parameter values depends on how distinctly a model parameter can be assigned to one of the performance criteria. To investigate this, we introduce the new concept of connective strength between model parameters and performance criteria. The connective strength assesses the intensity in the interrelationship between model parameters and performance criteria in a bijective way. In our analysis of connective strength, model simulations are carried out based on a latin hypercube sampling. Ten performance criteria including Nash–Sutcliffe efficiency (NSE, Kling–Gupta efficiency (KGE and its three components (alpha, beta and r as well as RSR (the ratio of the root mean square error to the standard deviation for different segments of the flow duration curve (FDC are calculated. With a joint analysis of two regression tree (RT approaches, we derive how a model parameter is connected to different performance criteria. At first, RTs are constructed using each performance criterion as the target variable to detect the most relevant model parameters for each performance criterion. Secondly, RTs are constructed using each parameter as the target variable to detect which performance criteria are impacted by changes in the values of one distinct model parameter. Based on this, appropriate performance criteria are identified for each model parameter. In this study, a high bijective connective strength between model parameters and performance criteria

Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia.

Science.gov (United States)

Olesen, Angelina Patrick; Nor, Siti Nurani Mohd; Amin, Latifah

2016-02-01

While pre-implantation genetic diagnosis (PGD) is available and legal in Malaysia, there is an ongoing controversy debate about its use. There are few studies available on individuals' attitudes toward PGD, particularly among those who have a genetic disease, or whose children have a genetic disease. To the best of our knowledge, this is, in fact, the first study of its kind in Malaysia. We conducted in-depth interviews, using semi-structured questionnaires, with seven selected potential PGD users regarding their knowledge, attitudes and decisions relating to the use PGD. The criteria for selecting potential PGD users were that they or their children had a genetic disease, and they desired to have another child who would be free of genetic disease. All participants had heard of PGD and five of them were considering its use. The participants' attitudes toward PGD were based on several different considerations that were influenced by various factors. These included: the benefit-risk balance of PGD, personal experiences of having a genetic disease, religious beliefs, personal values and cost. The study's findings suggest that the selected Malaysian participants, as potential PGD users, were supportive but cautious regarding the use of PGD for medical purposes, particularly in relation to others whose experiences were similar. More broadly, the paper highlights the link between the participants' personal experiences and their beliefs regarding the appropriateness, for others, of individual decision-making on PGD, which has not been revealed by previous studies.

Parametric optimization of multiple quality characteristics in laser cutting of Inconel-718 by using hybrid approach of multiple regression analysis and genetic algorithm

Science.gov (United States)

Shrivastava, Prashant Kumar; Pandey, Arun Kumar

2018-06-01

Inconel-718 has found high demand in different industries due to their superior mechanical properties. The traditional cutting methods are facing difficulties for cutting these alloys due to their low thermal potential, lower elasticity and high chemical compatibility at inflated temperature. The challenges of machining and/or finishing of unusual shapes and/or sizes in these materials have also faced by traditional machining. Laser beam cutting may be applied for the miniaturization and ultra-precision cutting and/or finishing by appropriate control of different process parameter. This paper present multi-objective optimization the kerf deviation, kerf width and kerf taper in the laser cutting of Incone-718 sheet. The second order regression models have been developed for different quality characteristics by using the experimental data obtained through experimentation. The regression models have been used as objective function for multi-objective optimization based on the hybrid approach of multiple regression analysis and genetic algorithm. The comparison of optimization results to experimental results shows an improvement of 88%, 10.63% and 42.15% in kerf deviation, kerf width and kerf taper, respectively. Finally, the effects of different process parameters on quality characteristics have also been discussed.

Interacting effects of genetic variation for seed dormancy and flowering time on phenology, life history, and fitness of experimental Arabidopsis thaliana populations over multiple generations in the field.

Science.gov (United States)