Search results for " algorithm"

showing 10 items of 2538 documents

Inheritance and variable expression in Rubinstein-Taybi syndrome.

2010

Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…

ProbandMaleRiskAdolescentDNA Mutational AnalysisMutation MissenseBiologyVariable ExpressionGenetic HeterogeneityGeneticsmedicineMissense mutationHumansPoint MutationFamilyAlleleGenetics (clinical)GeneticsRubinstein-Taybi SyndromeRubinstein–Taybi syndromeGenetic heterogeneityMosaicismPoint mutationmedicine.diseaseCREB-Binding ProteinPedigreePhenotypeChild PreschoolMutation (genetic algorithm)FemaleAmerican journal of medical genetics. Part A
researchProduct

Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia.

2020

Familial defective apolipoprotein (apo) B (FDB) and familial hypercholesterolaemia (FH) are the two common genetic conditions that cause hypercholesterolaemia. R3531C mutation of the APOB gene is a rare cause of FDB. Individuals with both FDB and FH are rare. A 51-year-old man with hypercholesterolaemia (11.4 mmol/L) and his family were studied. Low-density lipoprotein (LDL) receptor (LDLR) and APOB genes were analysed by direct sequencing. LDL of four subjects were studied in a fibroblast LDL receptor-binding displacement assay. We found a mutation of the LDLR gene (p.Y398X) in the proband and in four other family members: the p.R3531C APOB gene mutation was also found in the proband, his …

ProbandMalemedicine.medical_specialtyApolipoprotein B030204 cardiovascular system & hematologyCompound heterozygosityHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compoundFDB35310302 clinical medicineInternal medicineInternal MedicinemedicineHumans030212 general & internal medicineApolipoproteins Bdouble heterozygotebiologybusiness.industryCholesterolLDL receptornutritional and metabolic diseasesHeterozygote advantageMiddle AgedEndocrinologychemistryItalyReceptors LDLLDL receptorMutation (genetic algorithm)Mutationfamilial hypercholesterolaemiabiology.proteinlipids (amino acids peptides and proteins)businessLipoproteinInternal medicine journalReferences
researchProduct

Genotype–phenotype correlation in a new Fabry-disease-causing mutation

2019

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…

Probandmedicine.medical_specialtyAbdominal painMedicine (General)α-galactosidase ACase ReportLeft ventricular hypertrophyGastroenterologyclassical manifestationR5-920Internal medicinemedicineGLA geneFabry diseasemedicine.diagnostic_testbusiness.industryCardiac arrhythmiaGeneral MedicineFabry disease ; α-galactosidase A ; GLA gene ; novel mutation ; classical manifestationmedicine.diseaseFabry diseaseHyperintensityMutation (genetic algorithm)<i>GLA</i> geneRenal biopsymedicine.symptomnovel mutationbusiness
researchProduct

Decentralization and heterogeneity in complex adaptative systems

2015

Purpose – Following a bacterial-based modeling approach, the authors want to model and analyze the impact of both decentralization and heterogeneity on group behavior and collective learning. The paper aims to discuss these issues. Design/methodology/approach – Inspired by bacterial conjugation, the authors have defined an artificial society in which agents’ strategies adapt to changes in resources location, allowing migration, and survival in a dynamic sugarscape-like scenario. To study the impact of these variables the authors have simulated a scenario in which resources are limited and localized. The authors also have defined three constraints in genetic information processing (inhibiti…

Process managementInformation theoryComputer scienceArtificial societyIntelligent agentsEmergenceInformation theorycomputer.software_genreSocial systemsTheoretical Computer ScienceIntelligent agentAutopoiesisComputer Science (miscellaneous)AdaptationComplex adaptive systemAdaptation (computer science)Engineering (miscellaneous)business.industryInformation processingCollaborative learningBiblioteconomía y DocumentaciónControl and Systems EngineeringMutation (genetic algorithm)Artificial intelligencebusinesscomputerSocial Sciences (miscellaneous)
researchProduct

ERP lifecycle: When to retire your ERP system?

2011

Published version of a chapter in the book: Enterprise information systems, vol 219, part 3, 168-177. Also available from the publisher at: http://dx.doi.org/10.1007/978-3-642-24358-5_17 A lot of research has been undertaken focusing on ERP systems lifecycles, but very little paid attention to retirement. ERP retirement means the replacement of an ERP with another. The aim of this research paper is to investigate why and when should organizations retire their ERP systems. A convenience case study of an SME has been selected from Egypt. The case study under investigation has retired their local ERP system and replaced it with SAP ERP. Results of our analysis indicated that reasons of retirem…

Process managementProcess (engineering)Computer scienceVDP::Social science: 200::Library and information science: 320::Information and communication systems: 321Maturity (finance)ERP retirement lifecycle case studySelection (genetic algorithm)Management
researchProduct

ERP Lifecycle

2000

A lot of research has been undertaken focusing on ERP systems lifecycles, but very little paid attention to retirement. ERP retirement means the replacement of an ERP with another. The aim of this research paper is to investigate why and when should organizations retire their ERP systems. A convenience case study of a SME has been selected from Egypt. The case study under investigation has retired their local ERP system and replaced it with SAP ERP. Results of the analysis indicate that reasons of retirement were: wrong selection, users were not involved in the selection process, and lack of an official implementation methodology. This is considered a new finding since main stream literatur…

Process managementProcess (engineering)Strategy and ManagementInformation systemOperations managementBusinessLibrary and Information SciencesBusiness and International ManagementMaturity (finance)Selection (genetic algorithm)Information Resources Management Journal
researchProduct

Quantum Query Algorithms for Conjunctions

2010

Every Boolean function can be presented as a logical formula in conjunctive normal form. Fast algorithm for conjunction plays significant role in overall algorithm for computing arbitrary Boolean function. First, we present a quantum query algorithm for conjunction of two bits. Our algorithm uses one quantum query and correct result is obtained with a probability p = 4/5, that improves the previous result. Then, we present the main result - generalization of our approach to design efficient quantum algorithms for computing conjunction of two Boolean functions. Finally, we demonstrate another kind of an algorithm for conjunction of two bits, that has a correct answer probability p = 9/10. Th…

Product termTheoretical computer scienceParity functionAnd-inverter graphMaximum satisfiability problemQuantum phase estimation algorithmBoolean expressionQuantum algorithmBoolean functionAlgorithmMathematics
researchProduct

Economic lot scheduling on multiple production lines with resource constraints

2003

Abstract This paper deals with the multiple production line economic lot scheduling problem, where some items cannot be produced concurrently since they compete for some discrete resources. In particular, cyclic schedules are sought for a problem where identical production lines are present, lost sales are allowed, and minimization of the long-range production, setup, inventory, and shortage penalty costs are required. A heuristic procedure for this problem is introduced, a numerical example is worked out and some computational experiments are presented.

Production lineEconomics and EconometricsMathematical optimizationResource constraintsScheduling (production processes)Management Science and Operations ResearchGeneral Business Management and AccountingIndustrial and Manufacturing EngineeringEconomic lot scheduling problemFair-share schedulingGenetic algorithm schedulingEconomicsMinificationHeuristicsInternational Journal of Production Economics
researchProduct

The linear saturated decentralized strategy for constrained flow control is asymptotically optimal

2013

We present an algorithm for constrained network flow control in the presence of an unknown demand. Our algorithm is decentralized in the sense that it is implemented by a team of agents, each controlling just the flow on a single arc of the network based only on the buffer levels at the nodes at the extremes of the arc, while ignoring the actions of other agents and the network topology. We prove that our algorithm is also stabilizing and steady-state optimal. Specifically, we show that it asymptotically produces the minimum-norm flow. We finally generalize our algorithm to networks with a linear dynamics and we prove that certain least-square optimality properties still hold.

Production-distribution systemsOptimizationMathematical optimizationRobust controlUncertain systemsMinimum normNetwork topologyMinimum norm flowControl theoryElectric network topologyConstrained flowUncertain systemsElectrical and Electronic EngineeringMathematicsFlow control (data)Network topologyAsymptotically optimalRobust control; OptimizationUncertain systemEthernet flow controlAsymptotically optimal Constrained flow Distributed flow control Minimum norm Network optimization Network topology Production-distribution systems Steady-state optimal; Algorithms Electric network topology Flow control Uncertain systems; OptimizationProduction-distribution systemFlow controlAsymptotically optimal algorithmControl and Systems EngineeringSteady-state optimalMinimum-cost flow problemDistributed flow controlRobust controlNetwork optimization; Distributed flow control; Production-distribution systems; Uncertain systems; Minimum norm flowNetwork optimizationAlgorithms
researchProduct

Profiling in Algorithm-Based Decisions: An African Perspective

2023

The chapter explores the experience of algorithm-based decisions in Africa, and how non-African players are using artificial intelligence to enhance their presence in Africa. The chapter then looks at how some of the legal systems of Africa are adapting to deal with this phenomenon in the related jurisdictions.

Profiling Algorithm-Based Decisions Comparative law African law
researchProduct