Genome-wide linkage analysis of families with primary hyperhidrosis

in PLoS ONE (2020)

Primary focal hyperhidrosis (PFH, OMIM %144110) is a genetically influenced condition characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general population, dependent on ... [more ▼]

Primary focal hyperhidrosis (PFH, OMIM %144110) is a genetically influenced condition characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general population, dependent on ethnicity. The aetiology of PFH remains unclear but an autosomal dominant mode of inheritance, incomplete penetrance and variable phenotypes have been reported. In our study, nine pedigrees (50 affected, 53 non-affected individuals) were included. Clinical characterisation was performed at the German Hyperhidrosis Centre, Munich, by using physiological and psychological questionnaires. Genome-wide parametric linkage analysis with GeneHunter was performed based on the Illumina genome-wide SNP arrays. Haplotypes were constructed using easyLINKAGE and visualised via HaploPainter. Whole-exome sequencing (WES) with 100x coverage in 31 selected members (24 affected, 7 non-affected) from our pedigrees was achieved by next generation sequencing. We identified four genome-wide significant loci, 1q41-1q42.3, 2p14-2p13.3, 2q21.2-2q23.3 and 15q26.3-15q26.3 for PFH. Three pedigrees map to a shared locus at 2q21.2-2q23.3, with a genome-wide significant LOD score of 3.45. The chromosomal region identified here overlaps with a locus at chromosome 2q22.1-2q31.1 reported previously. Three families support 1q41-1q42.3 (LOD = 3.69), two families share a region identical by descent at 2p14-2p13.3 (LOD = 3.15) and another two families at 15q26.3 (LOD = 3.01). Thus, our results point to considerable genetic heterogeneity. WES did not reveal any causative variants, suggesting that variants or mutations located outside the coding regions might be involved in the molecular pathogenesis of PFH. We suggest a strategy based on whole-genome or targeted next generation sequencing to identify causative genes or variants for PFH. [less ▲]

Metaheuristics for the Online Printing Shop Scheduling Problem

in European Journal of Operational Research (2020)

In this work, the online printing shop scheduling problem introduced in (Lunardi et al., Mixed Integer Linear Programming and Constraint Programming Models for the Online Printing Shop Scheduling Problem ... [more ▼]

In this work, the online printing shop scheduling problem introduced in (Lunardi et al., Mixed Integer Linear Programming and Constraint Programming Models for the Online Printing Shop Scheduling Problem, Computers & Operations Research, to appear) is considered. This challenging real scheduling problem, that emerged in the nowadays printing industry, corresponds to a flexible job shop scheduling problem with sequencing flexibility; and it presents several complicating specificities such as resumable operations, periods of unavailability of the machines, sequence-dependent setup times, partial overlapping between operations with precedence constraints, and fixed operations, among others. A local search strategy and metaheuristic approaches for the problem are proposed and evaluated. Based on a common representation scheme, trajectory and populational metaheuristics are considered. Extensive numerical experiments with large-sized instances show that the proposed methods are suitable for solving practical instances of the problem; and that they outperform a half-heuristic-half-exact off-the-shelf solver by a large extent. Numerical experiments with classical instances of the flexible job shop scheduling problem show that the introduced methods are also competitive when applied to this particular case. [less ▲]

Competence-Orientation in Teaching Physical Education

in Peters, Michael A. (Ed.) Encyclopedia of Teacher Education (2020)

In recent years, curriculum development has shifted to competence-oriented approaches in many European countries and beyond. Contents of the respective competence-oriented curricula may vary depending on ... [more ▼]

In recent years, curriculum development has shifted to competence-oriented approaches in many European countries and beyond. Contents of the respective competence-oriented curricula may vary depending on the specific cultural, social and political background, and accordingly also on the individual decision-makers. They may however comprehensively be defined as “a curriculum that emphasizes the complex outcomes of a learning process (i.e. knowledge, skills and attitudes to be applied by learners), rather than mainly focused on what learners are expected to learn about in terms of traditionally defined content” (UNESCO-International Bureau of Education, 2012). Competence-based curricula are thus criteria-based and goals-oriented, flexible and adaptive to students’ and school contexts. They have in common that learning outcomes are considered as an essential evidence of having acquired competencies. Further, they attest to the effectiveness of education systems at delivering quality education and effective learning. What learners can acquire, however, depends not only on a clear definition of intended competencies and learning outcomes. It is also related to questions like how the learning contents are packaged and presented, how they are taught, where they are taught and acquired, how learners are facilitated, and also how their acquisition is verified (UNESCO-International Bureau of Education, 2012). National and regional policies and curricula thus only pave the way to competence-oriented teaching. They can however only be successful if they are accepted and well implemented by the teacher and if they take place in a positive learning environment (UNESCO-International Bureau of Education, 2012). Accordingly, subject didactics in physical education like in any other subject have to cover two roles: contributing to determine educational standards and developing concepts for competence-oriented teaching (Gogoll & Kurz, 2013). Having this double mission in mind, this chapter is opening by exploring what competence-orientation means, first in general and secondly, more specifically, in physical education classes. It continues by transferring the theoretical knowledge into the practical implementation of competence-oriented tasks. To conclude, a critical glance is thrown on the concept of competence-orientation in physical education. [less ▲]

Remuneration Debacle at the International Criminal Court: Should ICC Judges Get a Pay Rise? Part I

E-print/Working paper (2020)

IWalk tours in Esch and Luxembourg city

Computer development (2020)

L-Isoaspartyl methyltransferase deficiency in zebrafish leads to impaired calcium signaling in the brain

in Frontiers in Genetics (2020)

Subcortical Neural Generators of the Envelope-Following Response in Sleeping Children: A Transfer Function Analysis

in Hearing Research (2020)

Wind Music during the Nazi occupation in Luxembourg from 1940 to 1944

Scientific Conference (2020, December 18)

From 1940 to 1944 Luxembourg was governed by the National Socialist regime. Besides the many human destinies, social life also had to bear the consequences. The keyword is "Gleichschaltung" (co-ordination ... [more ▼]

From 1940 to 1944 Luxembourg was governed by the National Socialist regime. Besides the many human destinies, social life also had to bear the consequences. The keyword is "Gleichschaltung" (co-ordination). In my lecture, I will provide some examples to show how this abusive and arbitrary interference affected the activities of the music associations. [less ▲]

Large Scale Parallel Simulation For Extended Discrete Element Method

Doctoral thesis (2020)

Numerical models are commonly used to simulate or model physical processes such as weather forecasts, fluid action, rocket trajectory, building designs, or biomass combustion. These simulations are ... [more ▼]

Numerical models are commonly used to simulate or model physical processes such as weather forecasts, fluid action, rocket trajectory, building designs, or biomass combustion. These simulations are immensely complex and require a hefty amount of time and computation, making it impossible to run on a standard modern laptop in a reasonable and fair period. This research work targets large-scale and parallel simulations of DEM and DEM-CFD couplings using high-performance computing techniques and optimizations. This thesis aims to analyze, contribute, and apply the DEM approach using the XDEM multi-Physics toolbox to physical processes that have been reluctant to be used due to their required computational resources and time. The first step of this work is to analyze and investigate the performance bottlenecks of the XDEM software. Therefore, the latter has been profiled and some critical parts as the contact detection were identified as the main bottlenecks of the software. A benchmark has also been set up to assess each bottleneck part’s performance using a baseline case. This step is crucial as it defines the general guidelines to follow in optimizing any application in general. A complete framework has been developed from scratch and aims to test and compare several contact detection algorithms and implementations. The framework, which also has a parallel version, has been used to select an appropriate algorithm and implementation for the XDEM software. The link-cell approach, combined with a new Verlet list concept, proved to be the best option for significantly reducing the contact detection part’s computational time. The Verlet buffer concept developed during this thesis takes the particle flow regime into account when selecting the skin margin to enhance the algorithm’s efficiency further. In order to target the high-performance computers for large-scale simulations, a full hybrid distributed-shared memory parallelization has been introduced by adding a fine-grain OpenMP implementation layer to the existing MPI approach. A shared memory parallelization allows taking full advantage of personal workstations with modern CPU architecture. On the other hand, a hybrid approach is one of the best ways to fully exploit the computing node capacities of our modern CPU clusters that mainly have a NUMA architecture. Macro-benchmarking performance analysis showed that we could entirely exploit 80% (speed-up) of 85 computing nodes representing 2380 cores on the ULHPC supercomputer. Finally, a life-size biomass combustion furnace is developed and used as an application test to demonstrate the complex and heavy cases that the XDEM software can accommodate at this time. The furnace is the combustion chamber of a 16 MW geothermal steam super-heater, partoftheEnelGreenPower"Cornia2." powerplant located in Italy. It proves that DEM, in general, and XDEM in particular, can be used for real case applications that discourage users due to their complexity and especially the time required to deliver the outcome results. [less ▲]

A Case Driven Study of the Use of Time Series Classification for Flexibility in Industry 4.0

in Sensors (2020), 20(24),

With the Industry 4.0 paradigm comes the convergence of the Internet Technologies and Operational Technologies, and concepts, such as Industrial Internet of Things (IIoT), cloud manufacturing, Cyber ... [more ▼]

With the Industry 4.0 paradigm comes the convergence of the Internet Technologies and Operational Technologies, and concepts, such as Industrial Internet of Things (IIoT), cloud manufacturing, Cyber-Physical Systems (CPS), and so on. These concepts bring industries into the big data era and allow for them to have access to potentially useful information in order to optimise the Overall Equipment Effectiveness (OEE); however, most European industries still rely on the Computer-Integrated Manufacturing (CIM) model, where the production systems run as independent systems (i.e., without any communication with the upper levels). Those production systems are controlled by a Programmable Logic Controller, in which a static and rigid program is implemented. This program is static and rigid in a sense that the programmed routines cannot evolve over the time unless a human modifies it. However, to go further in terms of flexibility, we are convinced that it requires moving away from the aforementioned old-fashioned and rigid automation to a ML-based automation, i.e., where the control itself is based on the decisions that were taken by ML algorithms. In order to verify this, we applied a time series classification method on a scale model of a factory using real industrial controllers, and widened the variety of parts the production line has to treat. This study shows that satisfactory results can be obtained only at the expense of the human expertise (i.e., in the industrial process and in the ML process). [less ▲]