| 1. |
- Becker, Kerstin, et al.
(författare)
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability : further delineation of the 6q14 microdeletion syndrome and review of the literature
- 2012
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 55:8-9, s. 490-497
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Tidskriftsartikel (refereegranskat)abstract
- Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
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| 2. |
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| 3. |
- Bruno, Karl, 1985, et al.
(författare)
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Virtually being there: Human aspects of shore-based ship assistance
- 2010
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Ingår i: WMU Journal of Maritime Affairs. - 1651-436X .- 1654-1642. ; 9:1, s. 81-92
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Tidskriftsartikel (refereegranskat)abstract
- Shore-based ship assistance is a topic that increasingly is attracting attention from the maritime community. Subjects such as shore-based pilotage and VTS are often discussed and there is technological and political pressure towards more extensive forms of such assistance. Perhaps less often mentioned, but not less important, is the human side of these subjects. The present paper examines two of the central concerns for the people who actually work within today's VTS centers, namely communication and trust. The study consisted of a literature review, study visits, observations and interviews. Communication and trust are found to be closely related, and one main finding is that adapting one's means of communication to the context can be a very powerful (and necessary) tool for the creation of trust. Another important result is that the ability of the shore-based operator to see the situation from the viewpoint of the crew is crucial for the creation and maintenance of trust.
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| 4. |
- Hampel, Harald, et al.
(författare)
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Perspective on Future Role of Biological Markers in Clinical Therapy Trials of Alzheimer's Disease: A Long-Range Point of View Beyond 2020.
- 2014
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Ingår i: Biochemical pharmacology. - : Elsevier BV. - 1873-2968 .- 0006-2952. ; 88:4, s. 426-449
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Tidskriftsartikel (refereegranskat)abstract
- Recent advances in understanding the molecular mechanisms underlying various paths towards the pathogenesis of Alzheimer's disease (AD) has begun to provide new insight for interventions to modify disease progression. The evolving knowledge gained from multidisciplinary basic research has begun to identify new concepts for treatments and distinct classes of therapeutic targets; as well as putative disease-modifying compounds that are now being tested in clinical trials. There is a mounting consensus that such disease modifying compounds and/or interventions are more likely to be effectively administered as early as possible in the cascade of pathogenic processes preceding and underlying the clinical expression of AD. The budding sentiment is that "treatments" need to be applied before various molecular mechanisms converge into an irreversible pathway leading to morphological, metabolic and functional alterations that characterize the pathophysiology of AD. In light of this, biological indicators of pathophysiological mechanisms are desired to chart and detect AD throughout the asymptomatic early molecular stages into the prodromal and early dementia phase. A major conceptual development in the clinical AD research field was the recent proposal of new diagnostic criteria, which specifically incorporate the use of biomarkers as defining criteria for preclinical stages of AD. This paradigm shift in AD definition, conceptualization, operationalization, detection and diagnosis represents novel fundamental opportunities for the modification of interventional trial designs. This perspective summarizes not only present knowledge regarding biological markers but also unresolved questions on the status of surrogate indicators for detection of the disease in asymptomatic people and diagnosis of AD.
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| 5. |
- 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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| 6. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 7. |
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| 8. |
- Larsen, Katarina, 1974-, et al.
(författare)
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Vetenskaplig publicering som strategi för industrisamarbete (Scientific publication as a strategy for collaboration with industry)
- 2011
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Ingår i: Forskningspolitikk. - 0333-0273 .- 0805-8210. ; :4, s. 22-23
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Kunskapsproduktionen vid industriellt inriktade forskningsinstitut sker i samverkan med aktörer som universitet och företag. En studie av ett svensk institut, Ytkemiska institutet (YKI), visar hur forskningsinstitut i vår tid strategiskt utvecklar nya roller i ett föränderligt forskningslandskap. Publicering och samarbeten i projekt är ett av de strategiska redskapen för att höja synlighet och attraktivitet och för att positionera institutet bland kunder och hos finansiärer.
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| 9. |
- Praetorius, Gesa, 1980-, et al.
(författare)
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Enacting Reliability : First steps to define safety in the VTS domain
- 2010
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Ingår i: Proceedings of the International Conference on Human Performance at Sea, HPAS 2010.
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Konferensbidrag (refereegranskat)abstract
- Although the term maritime safety is widely used in the maritime industry, there is no exact definition of what it entails. An explorative study of the VTS domain has been conducted to approach the concept of maritime safety. Four VTS centres were visited and 16 VTS operators were interviewed and observed to derive insights in how maritime safety is constructed from the perspective of an operator. Further, definitions of maritime safety by central actors in the maritime domain have been investigated through a literature study and several interviews. The results indicate that there is no common definition of the term maritime safety. The organisations generally identify maritime safety as an overall goal or an umbrella term for measures such as traffic separation schemes or fairway design. In contrast to this, VTS operators consider maritime safety as a context-dependent condition that is shaped by their own actions. Risk and safety therefore are assessed based on situational factors, such as traffic density and geography, as well as on the individual experiences. We conclude that there is a gap concerning the understanding and definition of maritime safety between most of the central actors (regulators, administrative bodies etc.) and the VTS operators.
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| 10. |
- Praetorius, Gesa, 1980, et al.
(författare)
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The context matters: Maritime safety in the Vessel Traffic Service (VTS) Domain
- 2010
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Ingår i: Reliability, Risk and Safety. Back to the Future (Proceedings of ESREL 2010). - : CRC Press. - 9780415604277 ; , s. 1773-1780
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Konferensbidrag (refereegranskat)abstract
- Vessel Traffic Service (VTS) is a service to the maritime community implemented to promote and improve maritime safety. In recent years VTS has become a topic of increased interest for maritime stakeholders and the general public. To derive insights on how maritime safety is constructed in the VTS domain this exploratory study was conducted. Four VTS centres were visited and 15 VTS operators were interviewed and observed at work. Further, a focus group interview with 8 VTS operators with focus on decision support tools in the VTS domain was conducted. The results of the study indicate that VTS operators define maritime safety as context-dependent a condition which is formed by their individual actions. Regulations and guidelines exist, but do not shape the daily work of the operators as much as their own experience and expertise. Safety arises in the interaction between the individual actor and others; it is influenced by contextual aspects, such as traffic density or weather conditions, rather than by what is stated by the regulating organisation.
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