| 1. |
- Beecham, Ashley H, et al.
(författare)
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
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Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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| 2. |
- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 3. |
- Kallberg, Maria, 1964-
(författare)
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'The Emperor's New Clothes' Recordkeeping in a New Context
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis examines if and how information capture and documentation practices and the function of the public archive are changing in relation to archival concepts in contemporary administrative settings, as a result of e-government strategic development. The study aims for a holistic approach from the beginning of the life of the records to their long-term preservation.This research is situated in Sweden where the recordkeeping legislation takes a holistic approach: records management is understood as a dimension of the archival function and therefore records managers have not been recognised as a professional group, however recordkeeping practice involves two occupational groups: registrars and archivists. Swedish recordkeeping legislation is based on long administrative traditions in which the public right of free access to official documents is fundamental. Registration of official documents is important as the means of facilitating the citizens´ right to free access information and registrars are primarily responsible for this process, including classification. Archivists manage the full range of recordkeeping tasks, acting not only as custodians of repositories but also strategic experts on recordkeeping as well as auditing on behalf of the archival authority. The archive legally consists of all the ‘official documents’ created or received in the organisation.This is an explorative and documented case study that used several local government bodies (municipalities) for the data collection by document analysis and interviews. Swedish municipalities are particularly interesting because they are autonomous in relation to the national government, with complex organisational structures consisting of several politically controlled committees and administrative departments that implement political decisions and provide services to the public. The National Archives does not have any supervisory role or monitoring function over local governments, but it does publish guidelines on recordkeeping. Nevertheless, the municipalities are controlled to a large extent by the implemented policies decided at national level by the Government and Parliament. Therefore, national initiatives regarding e-government have impacted on the municipalities’ recordkeeping.A theoretical lens combining archival science and theory of professions has been chosen to analyse the observed changes in practice. The thesis analyses the issue of recordkeeping awareness in three arenas: the legal arena; the political arena; and the workplace arena in the light of the records continuum model.The research findings demonstrate a gap between the legal and workplace arenas caused by lack of recordkeeping awareness primarily within the political arena. Despite the holistic view of keeping archives expressed in the recordkeeping legislation, observed practice appears closer to a life cycle model than proactive continuum thinking and planning. A lack of recordkeeping legislation awareness in the wider organisation is potentially leading to a division between records management and archives management, jeopardising the continuum approach. Consequently registrars may in the future become more like records managers and archivists may be losing part of their professional jurisdiction. There is a strong focus on business benefits to the organisation rather than the wider view of democratic values and cultural heritage. As a result: archivists seem to suffer a lack of resources as well as skills in order to carry out their responsibilities. The future role of archival authorities such as the National Archives is unclear.
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| 4. |
- Kardon, Randy, et al.
(författare)
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Chromatic pupillometry in patients with retinitis pigmentosa
- 2011
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Ingår i: Ophthalmology. - : Elsevier BV. - 0161-6420 .- 1549-4713. ; 118:2, s. 376-381
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate the chromatic pupillary response as a means of assessing outer and inner retinal function in patients with retinitis pigmentosa (RP).DESIGN: Evaluation of diagnostic technology.PARTICIPANTS: Thirty-two patients with RP and visual loss and 43 normal subjects.METHODS: Patients were tested with a chromatic pupillometer using red and blue lights (1, 10, and 100 cd/m(2)), and their pupil responses were compared with those from 43 normal subjects (reported previously). Visual field and electroretinography (ERG) results were examined and compared with the pupil responses.MAIN OUTCOME MEASURES: The percent pupil contraction of the transient response to a low-intensity (1 cd/m(2)) blue light and high-intensity (100 cd/m(2)) red light and the sustained response to a high-intensity blue light was calculated for 1 eye of each subject.RESULTS: The pupil responses to red and blue light at all intensities were recordable in all patients except 1, whose pupil responded only to bright blue light. There was a significant difference of the pupil response between patients with RP and normal subjects in testing conditions that emphasized rod (1 cd/m(2) blue light) or cone (100 cd/m(2) red light) contribution (P<0.001). Patients with a non-recordable scotopic ERG showed significantly reduced pupil responses (P<0.001) to low-intensity blue light (1 cd/m(2)). Patients with a non-recordable or abnormal photopic ERG showed significantly reduced pupil responses (P<0.05) to high-intensity red light (100 cd/m(2)). Patients with a nonrecordable ERG had the most visual field loss and reduced pupil responses. Unexpectedly, patients with RP showed a slower re-dilation of the pupil after termination of bright blue light compared with red light, a pattern not observed in normal subjects.CONCLUSIONS: Pupil responses to red and blue light stimuli weighted to favor cone or rod input are significantly reduced in patients with RP but are still recordable in patients having a non-recordable ERG. In addition, outer photoreceptor disease appears to unmask a post-illumination pupillary constriction to bright blue light, most likely mediated by intrinsic activation of melanopsin ganglion cells. Chromatic pupillometry provides a novel, noninvasive method for following retinal functional status, particularly in patients with severe RP and non-recordable ERG.
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| 5. |
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Memory, mourning, landscape
- 2010
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- This volume sheds twenty-first-century light on the charged interactions between memory, mourning and landscape. A century after Freud, our understanding of how memory and mourning function continues to be challenged, revised and refined. Increasingly, scholarly attention is paid to the role of situation in memorialising, whether in commemorations of individuals or in marking the mass deaths of late modern warfare and disasters. Memory, Mourning, Landscape offers the nuanced insights provided by interdisciplinarity in nine essays by leading and up-and-coming academics from the fields of history, museum studies, literature, anthropology, architecture, law, geography, theology and archaeology. The vital visual element is reinforced with an illustrated coda by a practising artist. The result is a unique symbiotic dialogue which will speak to scholars from a range of disciplines.
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| 6. |
- Nilsson, R. Henrik, 1976, et al.
(författare)
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Improving ITS sequence data for identification of plant pathogenic fungi
- 2014
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Ingår i: Fungal Diversity. - : Springer Science and Business Media LLC. - 1560-2745 .- 1878-9129. ; 67:1, s. 11-19
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Tidskriftsartikel (refereegranskat)abstract
- Plant pathogenic fungi are a large and diverse assemblage of eukaryotes with substantial impacts on natural ecosystems and human endeavours. These taxa often have complex and poorly understood life cycles, lack observable, discriminatory morphological characters, and may not be amenable to in vitro culturing. As a result, species identification is frequently difficult. Molecular (DNA sequence) data have emerged as crucial information for the taxonomic identification of plant pathogenic fungi, with the nuclear ribosomal internal transcribed spacer (ITS) region being the most popular marker. However, international nucleotide sequence databases are accumulating numerous sequences of compromised or low-resolution taxonomic annotations and substandard technical quality, making their use in the molecular identification of plant pathogenic fungi problematic. Here we report on a concerted effort to identify high-quality reference sequences for various plant pathogenic fungi and to re-annotate incorrectly or insufficiently annotated public ITS sequences from these fungal lineages. A third objective was to enrich the sequences with geographical and ecological metadata. The results – a total of 31,954 changes – are incorporated in and made available through the UNITE database for molecular identification of fungi (http://unite.ut.ee), including standalone FASTA files of sequence data for local BLAST searches, use in the next-generation sequencing analysis platforms QIIME and mothur, and related applications. The present initiative is just a beginning to cover the wide spectrum of plant pathogenic fungi, and we invite all researchers with pertinent expertise to join the annotation effort.
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| 7. |
- Wang, Lu, et al.
(författare)
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Circulating 25-hydroxy-vitamin d and risk of cardiovascular disease : a meta-analysis of prospective studies
- 2012
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Ingår i: Circulation. Cardiovascular Quality and Outcomes. - 1941-7713 .- 1941-7705. ; 5:6, s. 819-829
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundVitamin D status has been linked to the risk of cardiovascular disease (CVD). However, the optimal 25-hydroxy-vitamin D (25[OH]-vitamin D) levels for potential cardiovascular health benefits remain unclear.Methods and ResultsWe searched MEDLINE and EMBASE from 1966 through February 2012 for prospective studies that assessed the association of 25(OH)-vitamin D concentrations with CVD risk. A total of 24 articles met our inclusion criteria, from which 19 independent studies with 6123 CVD cases in 65 994 participants were included for a meta-analysis. In a comparison of the lowest with the highest 25(OH)-vitamin D categories, the pooled relative risk was 1.52 (95% confidence interval, 1.30-1.77) for total CVD, 1.42 (95% confidence interval, 1.19-1.71) for CVD mortality, 1.38 (95% confidence interval, 1.21-1.57) for coronary heart disease, and 1.64 (95% confidence interval, 1.27-2.10) for stroke. These associations remained strong and significant when analyses were limited to studies that excluded participants with baseline CVD and were better controlled for season and confounding. We used a fractional polynomial spline regression analysis to assess the linearity of dose-response association between continuous 25(OH)-vitamin D and CVD risk. The CVD risk increased monotonically across decreasing 25(OH)-vitamin D below ≈60 nmol/L, with a relative risk of 1.03 (95% confidence interval, 1.00-1.06) per 25-nmol/L decrement in 25(OH)-vitamin D.ConclusionsThis meta-analysis demonstrated a generally linear, inverse association between circulating 25(OH)-vitamin D ranging from 20 to 60 nmol/L and risk of CVD. Further research is needed to clarify the association of 25(OH)-vitamin D higher than 60 nmol/L with CVD risk and assess causality of the observed associations.
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