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Institution

University of Luxembourg

EducationLuxembourg, Luxembourg
About: University of Luxembourg is a education organization based out in Luxembourg, Luxembourg. It is known for research contribution in the topics: Population & European union. The organization has 4744 authors who have published 22175 publications receiving 381824 citations.


Papers
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Journal ArticleDOI
TL;DR: Next-generation sequencing results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing neurons.
Abstract: Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently). Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia. Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype. They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels. These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing neurons.

216 citations

Journal ArticleDOI
TL;DR: A computationally tractable, comprehensive molecular interaction map of Parkinson's disease that integrates pathways implicated in PD pathogenesis such as synaptic and mitochondrial dysfunction, impaired protein degradation, alpha-synuclein pathobiology and neuroinflammation is introduced.
Abstract: Parkinson's disease (PD) is a major neurodegenera- tivechronic disease,most likelycaused by a complex interplay of genetic and environmental factors. Information on various aspects of PD pathogenesis is rapidly increasing and needs to be efficiently organized, so that the resulting data is available for exploration and analysis. Here we introduce a computa- tionally tractable, comprehensive molecular interaction map of PD. This map integrates pathways implicated in PD pathogen- esis such as synaptic and mitochondrial dysfunction, impaired protein degradation, alpha-synuclein pathobiology and neuroinflammation. We also present bioinformatics tools for the analysis, enrichment and annotation of the map, allowing the research community to open new avenues in PD research. The PD map is accessible at http://minerva.uni.lu/pd_map.

215 citations

Journal ArticleDOI
TL;DR: Analysis of individuals with neurodevelopmental disorders (NDDs) with epilepsy identifies 33 genes with a significant excess of de novo variants, of which SNAP25 and GABRB2 had previously only limited evidence of disease association.
Abstract: Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent-offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.

214 citations

Journal ArticleDOI
TL;DR: This review examines whether psychological preparation has impact on the outcomes of postoperative pain, behavioural recovery, length of stay and negative affect in adults undergoing elective surgery under general anaesthetic.
Abstract: Background In a review and meta-analysis conducted in 1993, psychological preparation was found to be beneficial for a range of outcome variables including pain, behavioural recovery, length of stay and negative affect. Since this review, more detailed bibliographic searching has become possible, additional studies testing psychological preparation for surgery have been completed and hospital procedures have changed. The present review examines whether psychological preparation (procedural information, sensory information, cognitive intervention, relaxation, hypnosis and emotion-focused intervention) has impact on the outcomes of postoperative pain, behavioural recovery, length of stay and negative affect. Objectives To review the effects of psychological preparation on postoperative outcomes in adults undergoing elective surgery under general anaesthetic. Search methods We searched the Cochrane Register of Controlled Trials (CENTRAL 2014, Issue 5), MEDLINE (OVID SP) (1950 to May 2014), EMBASE (OVID SP) (1982 to May 2014), PsycINFO (OVID SP) (1982 to May 2014), CINAHL (EBESCOhost) (1980 to May 2014), Dissertation Abstracts (to May 2014) and Web of Science (1946 to May 2014). We searched reference lists of relevant studies and contacted authors to identify unpublished studies. We reran the searches in July 2015 and placed the 38 studies of interest in the ‘awaiting classification’ section of this review. Selection criteria We included randomized controlled trials of adult participants (aged 16 or older) undergoing elective surgery under general anaesthesia. We excluded studies focusing on patient groups with clinically diagnosed psychological morbidity. We did not limit the search by language or publication status. We included studies testing a preoperative psychological intervention that included at least one of these seven techniques: procedural information; sensory information; behavioural instruction; cognitive intervention; relaxation techniques; hypnosis; emotion-focused intervention. We included studies that examined any one of our postoperative outcome measures (pain, behavioural recovery, length of stay, negative affect) within one month post-surgery. Data collection and analysis One author checked titles and abstracts to exclude obviously irrelevant studies. We obtained full reports of apparently relevant studies; two authors fully screened these. Two authors independently extracted data and resolved discrepancies by discussion. Where possible we used random-effects meta-analyses to combine the results from individual studies. For length of stay we pooled mean differences. For pain and negative affect we used a standardized effect size (the standardized mean difference (SMD), or Hedges’g) to combine data from different outcome measures. If data were not available in a form suitable for meta-analysis we performed a narrative review. Main results Searches identified 5116 unique papers; we retrieved 827 for full screening. In this review, we included 105 studies from 115 papers, in which 10,302 participants were randomized. Mainly as a result of updating the search in July 2015, 38 papers are awaiting classification. Sixty-one of the 105 studies measured the outcome pain, 14 behavioural recovery, 58 length of stay and 49 negative affect. Participants underwent a wide range of surgical procedures, and a range of psychological components were used in interventions, frequently in combination. In the 105 studies, appropriate data were provided for the meta-analysis of 38 studies measuring the outcome postoperative pain (2713 participants), 36 for length of stay (3313 participants) and 31 for negative affect (2496 participants). We narratively reviewed the remaining studies (including the 14 studies with 1441 participants addressing behavioural recovery). When pooling the results for all types of intervention there was low quality evidence that psychological preparation techniques were associated with lower postoperative pain (SMD -0.20, 95% confidence interval (CI) -0.35 to -0.06), length of stay (mean difference -0.52 days, 95% CI - 0.82 to -0.22) and negative affect (SMD -0.35, 95% CI -0.54 to -0.16) compared with controls. Results tended to be similar for all categories of intervention, although there was no evidence that behavioural instruction reduced the outcome pain. However, caution must be exercised when interpreting the results because of heterogeneity in the types of surgery, interventions and outcomes. Narratively reviewed evidence for the outcome behavioural recovery provided very low quality evidence that psychological preparation, in particular behavioural instruction, may have potential to improve behavioural recovery outcomes, but no clear conclusions could be reached. Generally, the evidence suffered from poor reporting, meaning that few studies could be classified as having low risk of bias. Overall, we rated the quality of evidence for each outcome as ‘low’ because of the high level of heterogeneity in meta-analysed studies and the unclear risk of bias. In addition, for the outcome behavioural recovery, too few studies used robust measures and reported suitable data for meta-analysis, so we rated the quality of evidence as ‘very low’. Authors’ conclusions The evidence suggested that psychological preparation may be beneficial for the outcomes postoperative pain, behavioural recovery, negative affect and length of stay, and is unlikely to be harmful. However, at present, the strength of evidence is insufficient to reach firm conclusions on the role of psychological preparation for surgery. Further analyses are needed to explore the heterogeneity in the data, to identify more specifically when intervention techniques are of benefit. As the current evidence quality is low or very low, there is a need for well-conducted and clearly reported research.

213 citations

Journal ArticleDOI
TL;DR: This survey focuses on the characteristic of two main power management technologies:static power management systems that utilize low-power components to save the energy, and dynamic power management techniques that utilize software and power-scalable components to optimize the energy consumption.
Abstract: Two major constraints demand more consideration for energy efficiency in cluster computing: (a) operational costs, and (b) system reliability. Increasing energy efficiency in cluster systems will reduce energy consumption, excess heat, lower operational costs, and improve system reliability. Based on the energy-power relationship, and the fact that energy consumption can be reduced with strategic power management, we focus in this survey on the characteristic of two main power management technologies: (a) static power management (SPM) systems that utilize low-power components to save the energy, and (b) dynamic power management (DPM) systems that utilize software and power-scalable components to optimize the energy consumption. We present the current state of the art in both of the SPM and DPM techniques, citing representative examples. The survey is concluded with a brief discussion and some assumptions about the possible future directions that could be explored to improve the energy efficiency in cluster computing.

212 citations


Authors

Showing all 4893 results

NameH-indexPapersCitations
Jun Wang1661093141621
Leroy Hood158853128452
Andreas Heinz108107845002
Philippe Dubois101109848086
John W. Berry9735152470
Michael Müller9133326237
Bart Preneel8284425572
Bjorn Ottersten81105828359
Sander Kersten7924623985
Alexandre Tkatchenko7727126863
Rudi Balling7523819529
Lionel C. Briand7538024519
Min Wang7271619197
Stephen H. Friend7018453422
Ekhard K. H. Salje7058119938
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
202360
2022250
20211,671
20201,776
20191,710
20181,663