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- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)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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- Odak, I., et al.
(författare)
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Teachers’ Social and Emotional Competencies : A Lever for Social and Emotional Learning in Schools
- 2023
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Ingår i: Sociologija i Prostor. - : Institute for Social Research Zagreb. - 1846-5226. ; 61:1, s. 105-122
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Tidskriftsartikel (refereegranskat)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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- Boecker, W., et al.
(författare)
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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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Ingår i: Histopathology. - : Wiley. - 0309-0167 .- 1365-2559. ; 65:1, s. 9-23
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Tidskriftsartikel (refereegranskat)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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- Elisak, M., et al.
(författare)
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Anti-NMDAR Antibodies in Demyelinating Diseases
- 2017
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Ingår i: Ceska a Slovenska Neurologie a Neurochirurgie. - : Care Comm. - 1210-7859 .- 1802-4041. ; 80:3, s. 332-335
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Tidskriftsartikel (refereegranskat)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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- Bailey, S. C. C., et al.
(författare)
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Obtaining accurate mean velocity measurements in high Reynolds number turbulent boundary layers using Pitot tubes
- 2013
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Ingår i: Journal of Fluid Mechanics. - : Cambridge University Press (CUP). - 0022-1120 .- 1469-7645. ; 715, s. 642-670
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Tidskriftsartikel (refereegranskat)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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- Kobulashvili, T., et al.
(författare)
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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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Ingår i: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311. ; 38, s. 38-45
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Tidskriftsartikel (refereegranskat)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.
(författare)
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EEG in fitness to drive evaluations in people with epilepsy - Considerable variations across Europe
- 2020
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Ingår i: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311. ; 79, s. 56-60
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Tidskriftsartikel (refereegranskat)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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