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| 2. |
- Lango Allen, Hana, et al.
(author)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Journal article (peer-reviewed)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 3. |
- Odak, I., et al.
(author)
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Teachers’ Social and Emotional Competencies : A Lever for Social and Emotional Learning in Schools
- 2023
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In: Sociologija i Prostor. - : Institute for Social Research Zagreb. - 1846-5226. ; 61:1, s. 105-122
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Journal article (peer-reviewed)abstract
- The present paper focuses on social and emotional learning, and highlights empirical findings on its importance for teachers, students and schools. The importance of social and emotional learning in school settings has been a central focus of research for the last 30 years. The development of teachers’ social and emotional competencies has been an essential factor for improving social and emotional learning of students. Only when teachers are able to create a school climate in which students feel included and welcome, students can develop and enhance their social and emotional competencies. In this paper, we outline the main conceptual frameworks on social and emotional learning, emphasizing the CASEL framework, relevant for both young people and adults. We proceed by focusing on teachers’ social and emotional competencies, as teachers are one of the key figures for fostering and developing social and emotional competencies in school settings. Afterwards, we address the issue of development of teachers’ social and emotional competencies in various settings. The last part of the paper links teachers’ and students’ social and emotional competencies. We stress the importance of teachers’ social and emotional competencies for healthy teacher-student relationships, and students’ well-being and academic achievement. As teachers also need support for the development of these competencies, we advocate for comprehensive school-wide approach, in order to ensure the successful implementation of social and emotional learning in classrooms.
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| 4. |
- Boecker, W., et al.
(author)
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Differentiation and histogenesis of syringomatous tumour of the nipple and low-grade adenosquamous carcinoma: evidence for a common origin
- 2014
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In: Histopathology. - : Wiley. - 0309-0167 .- 1365-2559. ; 65:1, s. 9-23
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Journal article (peer-reviewed)abstract
- Aims: Syringomatous tumour of the nipple and low-grade adenosquamous carcinoma (LGAdSC) of the breast are regarded as distinct entities. To clarify the nature of these two lesions, we compared the expression of different lineage/differentiation markers in 12 syringomatous tumours of the nipple, nine LGAdSCs, and normal breast epithelium. Methods and results: Using triple immunofluorescence labelling and quantitative RT-PCR for keratins, p63, and smooth muscle actin, we demonstrated that syringomatous tumour and LGAdSC contain p63+/K5/14+ tumour cells, K10+ squamous cells, and K8/18+ glandular cells, with intermediary cells being found in both lineages. Identical p63+/K5/14+ cells were also found in the normal breast duct epithelium. Conclusions: Our data provide evidence that syringomatous tumour of the nipple and LGAdSC are identical or nearly identical lesions. They contain p63+/K5/14+ cells as the key cells from which the K10+ squamous lineage and the K8/18+ glandular lineage arise. On the basis of our findings in normal breast tissue and associated benign lesions, we suggest that p63+/K5/14+ cells of the normal breast duct epithelium or early related cells might play a key role in the neoplastic transformation of both syringomatous tumour and LGAdSC. We propose that the differentiation patterns found in both lesions reflect the early ontogenetic stages of the normal breast epithelium.
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| 5. |
- Elisak, M., et al.
(author)
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Anti-NMDAR Antibodies in Demyelinating Diseases
- 2017
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In: Ceska a Slovenska Neurologie a Neurochirurgie. - : Care Comm. - 1210-7859 .- 1802-4041. ; 80:3, s. 332-335
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Journal article (peer-reviewed)abstract
- Introduction: Antibodies against N-methyl D-aspartate receptor (anti-NMDAR) are directly pathogenic autoantibodies associated with encephalitis. Cases reporting the presence of anti-NMDAR antibodies associated with a demyelinating disease have been published, some without symptoms of NMDAR encephalitis. The aim of our study was to describe characteristics of a demyelinating disease in patients with anti-NMDAR antibodies. Material and methods: Anti-NMDAR antibodies were investigated in the serum and cerebrospinal fluid of patients with clinically suspected autoimmune encephalitis by indirect immunofluorescence using cell-based assay on fixed cells transfected for the antigen. The clinical course and MRI findings consistent with a demyelinating disease were assessed in accordance with the current diagnostic criteria. Results: Eleven patients with autoimmune encephalitis and positive anti-NMDAR were identified between 2012 to 2015. Ten of them met criteria of NMDAR encephalitis, one patient had an acute onset (de novo status epilepticus) with MRI and CSF findings corresponding with acute disseminated encephalomyelitis and regression following corticosteroid treatment. Subsequently, due to MRI dynamics, this patient met the criteria of multiple sclerosis. One patient with NMDAR encephalitis developed an optic neuritis 20 months later and MRI showed demyelinating changes with dissemination in time and space. Following corticosteroid and azathioprine treatment, the patient is clinically stable but with persisting MRI disease activity. In both patients, demyelinating lesions were also identified in the spinal cord. Conclusion: In patients with an atypical manifestation of a demyelinating disease (prominent psychiatric or cognitive symptoms, seizures or extrapyramidal signs) anti-NMDAR testing should be performed and an appropriate immunotherapy should be started in positive cases. In some patients, NMDAR encephalitis may result in an onset of a demyelinating disease.
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| 6. |
- Bailey, S. C. C., et al.
(author)
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Obtaining accurate mean velocity measurements in high Reynolds number turbulent boundary layers using Pitot tubes
- 2013
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In: Journal of Fluid Mechanics. - : Cambridge University Press (CUP). - 0022-1120 .- 1469-7645. ; 715, s. 642-670
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Journal article (peer-reviewed)abstract
- This article reports on one component of a larger study on measurement of the zero-pressure-gradient turbulent flat plate boundary layer, in which a detailed investigation was conducted of the suite of corrections required for mean velocity measurements performed using Pitot tubes. In particular, the corrections for velocity shear across the tube and for blockage effects which occur when the tube is in close proximity to the wall were investigated using measurements from Pitot tubes of five different diameters, in two different facilities, and at five different Reynolds numbers ranging from Reθ = 11 100 to 67 000. Only small differences were found amongst commonly used corrections for velocity shear, but improvements were found for existing near-wall proximity corrections. Corrections for the nonlinear averaging of the velocity fluctuations were also investigated, and the results compared to hot-wire data taken as part of the same measurement campaign. The streamwise turbulence-intensity correction was found to be of comparable magnitude to that of the shear correction, and found to bring the hot-wire and Pitot results into closer agreement when applied to the data, along with the other corrections discussed and refined here.
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| 9. |
- Kobulashvili, T., et al.
(author)
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Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery
- 2016
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In: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311. ; 38, s. 38-45
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Journal article (peer-reviewed)abstract
- Purpose: The European Union-funded E-PILEPSY network aims to improve awareness of, and accessibility to, epilepsy surgery across Europe. In this study we assessed current clinical practices in epilepsy monitoring units (EMUs) in the participating centers. Method: A 60-item web-based survey was distributed to 25 centers (27 EMUs) of the E-PILEPSY network across 22 European countries. The questionnaire was designed to evaluate the characteristics of EMUs, including organizational aspects, admission, and observation of patients, procedures performed, safety issues, cost, and reimbursement. Results: Complete responses were received from all (100%) EMUs surveyed. Continuous observation of patients was performed in 22 (81%) EMUs during regular working hours, and in 17 EMUs (63%) outside of regular working hours. Fifteen (56%) EMUs requested a signed informed consent before admission. All EMUs performed tapering/withdrawal of antiepileptic drugs, 14 (52%) prior to admission to an EMU. Specific protocols on antiepileptic drugs (AED) tapering were available in four (15%) EMUs. Standardized Operating Procedures (SOP) for the treatment of seizure clusters and status epilepticus were available in 16 (59%). Safety measures implemented by EMUs were: alarm seizure buttons in 21 (78%), restricted patient's ambulation in 19 (70%), guard rails in 16 (59%), and specially designated bathrooms in 7 (26%). Average costs for one inpatient day in EMU ranged between 100 and 2200 Euros. Conclusion: This study shows a considerable diversity in the organization and practice patterns across European epilepsy monitoring units. The collected data may contribute to the development and implementation of evidence-based recommended practices in LTM services across Europe. (C) 2016 The Authors. Published by Elsevier Ltd. on behalf of British Epilepsy Association.
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| 10. |
- Markhus, R., et al.
(author)
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EEG in fitness to drive evaluations in people with epilepsy - Considerable variations across Europe
- 2020
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In: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311. ; 79, s. 56-60
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Journal article (peer-reviewed)abstract
- Purpose: Epilepsy patients consider driving issues to be one of their most serious concerns. Ideally, decisions regarding fitness to drive should be based upon thorough evaluations by specialists in epilepsy care. In 2009, an EU directive was published aiming to harmonize evaluation practices within European countries, but, despite these recommendations, whether all epileptologists use the same criteria is unclear. We therefore conducted this study to investigate routine practices on how epileptologists at European epilepsy centers evaluate fitness to drive. Methods: A questionnaire was sent to 63 contact persons identified through the European Epi-Care and the Epilepsy network. The questionnaire addressed how fitness-to-drive evaluations were conducted, the involvement of different professionals, the use and interpretation of EEG, and opinions on existing regulations and guidelines. Results: The questionnaire was completed by 35 participants (56 % response rate). Results showed considerable variation regarding test routines and the emphasis placed on the occurrence and extent of epileptiform discharges revealed by EEG. 82 % of the responders agreed that there was a need for more research on how to better evaluate fitness-to-drive in people with epilepsy, and 89 % agreed that regulations on fitness to drive evaluations should be internationally coordinated. Conclusion: Our survey showed considerable variations among European epileptologists regarding use of EEG and how findings of EEG pathology should be assessed in fitness-to-drive evaluations. There is a clear need for more research on this issue and international guidelines on how such evaluations should be carried out would be of value.
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| 11. |
- Mouthaan, B. E., et al.
(author)
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Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe
- 2016
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In: Epilepsia. - : Wiley. - 0013-9580. ; 57:5, s. 770-776
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Journal article (peer-reviewed)abstract
- Objective: In 2014 the European Union-funded E-PILEPSY project was launched to improve awareness of, and accessibility to, epilepsy surgery across Europe. We aimed to investigate the current use of neuroimaging, electromagnetic source localization, and imaging postprocessing procedures in participating centers. Methods: A survey on the clinical use of imaging, electromagnetic source localization, and postprocessing methods in epilepsy surgery candidates was distributed among the 25 centers of the consortium. A descriptive analysis was performed, and results were compared to existing guidelines and recommendations. Results: Response rate was 96%. Standard epilepsy magnetic resonance imaging (MRI) protocols are acquired at 3 Tesla by 15 centers and at 1.5 Tesla by 9 centers. Three centers perform 3T MRI only if indicated. Twenty-six different MRI sequences were reported. Six centers follow all guideline-recommended MRI sequences with the proposed slice orientation and slice thickness or voxel size. Additional sequences are used by 22 centers. MRI postprocessing methods are used in 16 centers. Interictal positron emission tomography (PET) is available in 22 centers; all using 18F-fluorodeoxyglucose (FDG). Seventeen centers perform PET postprocessing. Single-photon emission computed tomography (SPECT) is used by 19 centers, of which 15 perform postprocessing. Four centers perform neither PET nor SPECT in children. Seven centers apply magnetoencephalography (MEG) source localization, and nine apply electroencephalography (EEG) source localization. Fourteen combinations of inverse methods and volume conduction models are used. Significance: We report a large variation in the presurgical diagnostic workup among epilepsy surgery centers across Europe. This diversity underscores the need for highquality systematic reviews, evidence-based recommendations, and harmonization of available diagnostic presurgical methods.
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| 12. |
- Samie, M., et al.
(author)
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Near wall coherence in wall-bounded flows and implications for flow control
- 2020
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In: International Journal of Heat and Fluid Flow. - : Elsevier B.V.. - 0142-727X .- 1879-2278. ; 86
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Journal article (peer-reviewed)abstract
- Opposition-control of the energetic cycle of near wall streaks in wall-bounded turbulence, using numerical approaches, has shown promise for drag reduction. For practical implementation, real-time opposition control is only realizable if there is a degree of coherence between the turbulent velocities passing a sensor and the target point within the flow; for practicality, a sensor (and actuator) should be wall-based to avoid parasitic drag. As such, we here inspect the feasibility of real-time control of the near wall cycle, by considering the coherence between a measurable wall-quantity, being the wall-shear stress fluctuations, and the streamwise and wall-normal velocity fluctuations in a turbulent boundary layer. Synchronized spatial and temporal velocity data from two direct numerical simulations and a fine large eddy simulation at Reτ≈590 and 2000 are employed. This study shows that the spectral energy of the streamwise velocity fluctuations that is stochastically incoherent with wall signals is independent of Reynolds number in the near wall region (up to the viscous-scaled wall-normal height z+≈20). Consequently, the streamwise energy-fraction that is stochastically wall-coherent grows with Reynolds number due to the increasing range of energetic large scales. This thus implies that a wall-based control system has the ability to manipulate a larger portion of the total turbulence energy at off-wall locations, at higher Reynolds numbers, while the efficacy of predicting/targeting the small scales of the near wall cycle remains indifferent with varying Reynolds number. Coherence values of 0.55 and 0.4 were found between the streamwise and wall-normal velocity fluctuations at the near wall peak in the energy spectrogram, respectively, and the streamwise fluctuating friction velocity. These coherence values, which are considerably lower than 1 (maximum possible coherence) suggest that a closed-loop drag reduction scheme targeting near wall cycle streaks alone (based on sensed friction velocity fluctuations) will be of limited success in practice.
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| 13. |
- Schmitt, F. C., et al.
(author)
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Standardisierter Computer-basiert- o rganisierter Report des EEG (SCORE) - Eine strukturierende Form der EEG-Befundung
- 2018
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In: Klinische Neurophysiologie. - : Georg Thieme Verlag KG. - 1434-0275 .- 1439-4081. ; 49:2, s. 1-18
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Journal article (peer-reviewed)abstract
- A taskforce formed in 2013 by the International Federation of Clinical Neurophysiology developed an EEG terminology with international consensus. In the following, the result - the second version of Standardized Computer-based Organized Reporting of EEG (SCORE) will be summarised. The terminology was tested in clinical practice using a software package (SCORE-EEG) applied to over 12,000 EEGs. The selection of terms is context-dependent: the initial selection determines which further options are available. A report is automatically generated and individual features are fed into a database. SCORE contains specialised modules for reporting on epileptic seizures, as well as for characteristic neonatal and intensive care EEG features. SCORE is a useful tool not only for outpatient, clinical and research settings, but also for quality control, data sharing and education.
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| 14. |
- Terracciano, A, et al.
(author)
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National character does not reflect mean personality trait levels in 49 cultures
- 2005
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In: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 310:5745, s. 96-100
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Journal article (peer-reviewed)abstract
- Most people hold beliefs about personality characteristics typical of members of their own and others' cultures. These perceptions of national character may be generalizations from personal experience, stereotypes with a "kernel of truth," or inaccurate stereotypes. We obtained national character ratings of 3989 people from 49 cultures and compared them with the average personality scores of culture members assessed by observer ratings and self-reports. National character ratings were reliable but did not converge with assessed traits. Perceptions of national character thus appear to be unfounded stereotypes that may serve the function of maintaining a national identity.
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| 15. |
- Tsuji, Y., et al.
(author)
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Amplitude modulation of pressure in turbulent boundary layer
- 2015
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In: 9th International Symposium on Turbulence and Shear Flow Phenomena, TSFP 2015. - : TSFP-9. - 9780000000002
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Conference paper (peer-reviewed)abstract
- The interaction between large and small scale motions from the point of pressure fluctuation is studied. Using the small pressure probe, both the static pressure and wall pressure fluctuations were measured inside the zeropressure gradient boundary layer at relatively high Reynolds numbers. How the large scales in outside affect the small scales near wall is analyzed by means of statistical method. High amplitude positive and negative pressure fluctuations are also analyzed which associate with coherent motions inside the boundary layer. Another interesting aspect is the amplitude modulations of pressure and this topic is reported in this paper.
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| 16. |
- Tsuji, Y., et al.
(author)
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Pressure fluctuation in high-Reynolds-number turbulent boundary layer : Results from experiments and DNS
- 2012
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In: Journal of Turbulence. - : Informa UK Limited. - 1468-5248. ; 13:50, s. 1-19
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Journal article (peer-reviewed)abstract
- We have developed a small pressure probe and measured both static pressure and wall pressure simultaneously in turbulent boundary layers up to Reynolds numbers based on the momentum thickness Rθ ≃ 44,620. The measurements were performed at large experimental facilities in Sweden, Australia, and Japan.We find that the measured pressure data are contaminated by the artificial background noise induced by test section and are also affected by the flow boundary conditions. By analyzing data from different wind tunnels acquired at the same Reynolds number, we evaluate the effect of background noises and boundary conditions on the pressure statistics. We also compare the experimental results with results of direct numerical simulations and discuss differences in boundary conditions between real and simulated wind tunnels.
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