Search results for "BRB"

showing 3 items of 3 documents

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

2020

Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…

0301 basic medicinelcsh:QH426-470media_common.quotation_subjectNonsenseMutation MissenseEpilepsies Myoclonic030105 genetics & hereditymedicine.disease_causeClinical ReportsBBS4 gene03 medical and health sciencesEpilepsyDravet syndromeGeneticsMedicineMissense mutationHumansMolecular BiologyGeneGenetics (clinical)media_commonGenetic testingGeneticsMutationClinical Reportmedicine.diagnostic_testbusiness.industryGABRB3 GeneEpileptic EncephalopathiesWest Syndromemedicine.diseaseReceptors GABA-ADravet syndromelcsh:Genetics030104 developmental biologyPhenotypeCodon NonsenseChild PreschoolFemalebusinessMicrotubule-Associated Proteins
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An open-source GA framework for optimizing the seismic upgrading design of RC frames through BRBs

2022

Abstract Optimizing seismic upgrading interventions in reinforced concrete (RC) structures is a difficult task, due to the inner non-linearity of the analyses usually performed. Additionally, it is well known that the displacement demand to the structure depends from the mass and stiffness of the system, and consequently its definition cannot be made a-priori. This paper presents the application of a soft-computing method -i.e. Genetic Algorithm (GA)- for the shaping optimization of code-compliant seismic upgrading interventions on plane RC frames through Buckling-Restrained Braces (BRB). The metaheuristic procedure allows to minimize the cost while ensuring the required safety level, witho…

Mathematical optimizationComputer scienceMonte Carlo methodCrossoverStability (learning theory)StiffnessPython (programming language)Settore ICAR/09 - Tecnica Delle CostruzioniGenetic algorithmMutation (genetic algorithm)medicineBRB Genetic algorithm Optimization Seismic upgradingmedicine.symptomcomputerMetaheuristicCivil and Structural Engineeringcomputer.programming_languageEngineering Structures
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Genetic Optimization for the design of seismic retrofitting of plane RC frames with Buckling Restrained Braces (BRBs)

2021

The increasing development of computational power in modern digital devices has spread the use of structural optimization in design applications of different fields of engineering problems. This approach exposes engineers to challenging design procedures aimed to optimize all variables to satisfy the imposed requirements, finding the “optimal” solution. Despite this wide use, the application of optimization algorithms for the design of seismic retrofitting strategies becomes tougher, due to the difficulties in finding a mathematical expression which includes and combines all the key variables (i.e., cost, safety, sustainability, design) and the nonlinearity of the analysis. In this paper, t…

Settore ICAR/09 - Tecnica Delle CostruzioniBucklingPlane (geometry)business.industrySeismic retrofitStructural engineeringRc framesStructural optimiziation Genetic Algorithm Retrofitting BRBbusinessGeology
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