Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). Results: Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific diseaseassociated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. Conclusions: To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance

Static and Dynamic Analysis of Linear Piezoelectric Structures Using Higher Order Shear Deformation Theories

This paper explores the effects of shear deformation on piezoelectric materials and structures that often serve as substrate layers of multilayer composite sensors and actuators. Based on higher-order shear elastic deformation and electric potential distribution theories, a general mathematical model is derived. Governing equations and the associated boundary conditions for a piezoelectric beam are developed using a generalized Hamilton’s principle. The static and dynamic behavior of the piezoelectric structure is investigated. A bending problem in static analysis and a free vibration problem in dynamic analysis are solved. The obtained results are in very good agreement with the results of the exact two dimensional solution available in the literature

Modelling and simulation of controlled smart structures

Summarization: A finite element analysis for modelling the dynamic response of laminate composite plates with adhesive and piezoelectric layers is presented. The formulation is based on a partial layerwise displacement theory which includes the peel and shear stiffness of the adhesive. The layers are modeled using the first-order shear deformation plate theory. Numerical examples show that the present model can well predict both the global and local responses such as mechanical displacements, modal frequencies, all in good agreement with those from the literatureΠαρουσιάστηκε στο: 9th HSTAM International Congress on Mechanic

Modal shape control of smart composite beams using piezoelectric actuators

Summarization: A new finite element formulation for laminated structures with bonded piezoelectric patches that can also handle coupled analysis is developed. The developed FE model can handle smart patches embedded in asymmetrically stacked laminated composite beams. These developed elements are used to perform dynamic analysis and modal shape control to a cantilever smart beam. Numerical results are presented to show the optimal locations and optimal values of electrical voltages in the actuators to achieve modal shape.Παρουσιάστηκε στο: 10th HSTAM International Congress on Mechanic

Numerical experiments on smart beams and plates

Summarization: Smart composite beams and plates with embedded piezoelectric sensors and actuators are considered. After a short presentation of the mechanical models and their discretization, we focus on problems of active structural control and identification. In particular we solve, using various algorithms, robust optimal control problems and damage identification tasks.Παρουσιάστηκε στο: European Conference on Smart Systems , Volume: Topics on Mathematics for Smart Systems, World Scientifi

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study

10.1002/ajmg.b.30980American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics1531220-228AJMG