87,852 research outputs found
Diamond-Blackfan anaemia in the Italian population
No full textDiamond-Blackfan anaemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation; 30% of patients have congenital malformations. The link between these malformations and defective erythropoiesis is unclear: a defect in a molecule acting both on embryo development and haemopoiesis has been proposed. Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported. Many cases are sporadic. A DBA locus has been mapped on chromosome 19q13.2 (Gustavsson et al, 1997), but several families unlinked to this locus have also been reported (Gustavsson et al, 1998). This paper presents clinical, epidemiological and molecular data for DBA in the Italian population. Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA. There was evidently locus heterogeneity for DBA in this population. A new microdeletion was identified in one patient. Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene
Storsatsning p\ue5 Hantverkskunnandet
No full textCertifiering ges\ue4ll- och m\ue4starbrev f\uf6r murare finns med i en satsning ned syfte att st\ue4rka hantverkarrollen p\ue5 mur- och putsomr\ue5det. Detta skulle kunna st\ue5 modell f\uf6r liknande arbetet p\ue5 andra h\ue5ll inom byggsektorn, anser byggnadskonstrukt\uf6ren Tomas Gustavsson och lektorn Nils-Eric Anderso
Diamond-Blackfan anaemia in the Italian population
No full textDiamond-Blackfan anaemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation: 30% of patients have congenital malformations. The link between these malformations and defective erythropoiesis is unclear: a defect in a molecule acting both on embryo development and haemopoiesis has been proposed. Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported. Many cases are sporadic. A DBA locus has been mapped on chromosome 19q13.2 (Gustavsson et al, 1997), but several families unlinked to this locus have also been reported (Gustavsson et al, 1998). This paper presents clinical, epidemiological and molecular data for DBA in the Italian population. Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA. There was evidently locus heterogeneity for DBA in this population. A new microdeletion was identified in one patient. Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene
Ultra-low friction W-S-N solid lubricant coating
No full textW-S-N films were deposited by reactive magnetron sputtering from WS2 target in Ar/N2 atmosphere. Besides the standard evaluation of composition, structure, morphology, hardness and cohesion/adhesion, the core objective of this paper was to analyze coating tribological behavior. The chemical composition was 34 at.% N, 12 at.% O, 29 at.% W and 25 at.% S, and the as-deposited films were completely amorphous. The film thickness was 2.3 μm, including the approximately 300-nm thick adhesion improving titanium interlayer. The friction coefficient was lower than 0.003 when sliding in dry nitrogen. The coating showed remarkable wear resistance surviving more than 2 million laps on pin-on-dics. The excellent friction properties were attributed to the formation of a thin tungsten disulfide tribofilm on the top of the wear track of the coating and on the counterpart surface. Moreover, the coating showed ability to replenish damaged areas with solid lubricant. We demonstrated that a structural transformation of the coating from an amorphous-like to a gradient quasi-ordered structure and an ordered transfer layer formation improved mechanical properties and radically decreased friction and wear
Frictional behavior of self-adaptive nanostructural Mo-Se-C coatings in different sliding conditions
No full textSliding properties of Mo-Se-C coatings with two different carbon content deposited by magnetron sputtering were investigated in different sliding environments (argon, nitrogen, dry and humid air). Both coatings had a structure that was identified as randomly oriented structures of MoSe2 embedded into amorphous carbon matrix. The worn surfaces, i.e. the wear tracks and the wear scars of the balls, were analyzed by optical microscopy, Raman spectroscopy and scanning electron microscopy. The material transferred to the ball steel surfaces was almost exclusively MoSe2, whereas the wear tracks on the coatings were more complex, with areas rich in MoSe2 and areas similar to that of as-deposited coatings
Diamond-Blackfan anaemia in the Italian population
No full textDiamond-Blackfan anaemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation; 30% of patients have congenital malformations. The link between these malformations and defective erythropoiesis is unclear: a defect in a molecule acting both on embryo development and haemopoiesis has been proposed, Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported. Many cases are sporadic. A DBA locus has been mapped on chromosome 19q13.2 (Gustavsson et al, 1997), but several families unlinked to this locus have also been reported (Gustavsson et al, 1998).This paper presents clinical, epidemiological and molecular data for DBA in the Italian population, Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA. There was evidently locus heterogeneity for DBA in this population. A new microdeletion was identified in one patient. Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene
Participation in everyday life after stroke : development and evaluation of F@ce – a team-based, person-centred rehabilitation intervention supported by information and communication technology
No full textAIM: The general aim of this thesis was to generate knowledge about how Information and Communication technology (ICT) could be used in the rehabilitation process after stroke in order to develop and evaluate the feasibility of F@ce - a person-centred, team-based intervention, supported by ICT, to enable performance of daily activities and participation in everyday life for people after stroke.METHODS: Studies I and II were qualitative grounded theory studies that were performed to generate knowledge on people after stroke and health care professionals working with rehabilitation after stroke, regarding the experiences of using ICT. The third study was a secondary analysis of a previously performed randomised controlled trial, evaluating a client-centred activities of daily living (CADL) intervention, to analyse factors of importance for a positive outcome in participation after stroke. The knowledge generated in studies I-III combined with previous research was used to develop F@ce, a team-based, person-centred intervention for rehabilitation after stroke, that was supported by ICT. Study IV was an evaluation of the feasibility of using F@ce, and the study design, in terms of the recruitment process, outcome measures used, fidelity, adherence, acceptability and potential harms.RESULTS: People after stroke in study I described their drive to integrate ICT in their everyday lives after stroke. They used their mobile phones to feel safe, to stay connected to friends and family, and to improve physical and cognitive functions. They also used their computer for social networks, to manage daily occupations such as paying bills, online shopping and searching for information. The healthcare professionals in study II did not use ICT to any greater extent outside their office, however, they had a vision that ICT could be used as a platform for sharing information and collaboration within the rehabilitation process. The results from study III showed that within the control group (receiving usual ADL interventions) those with mild stroke and home-based rehabilitation had a better outcome in perceived participation compared to the intervention group, however, in the intervention group the difference between stroke severity and context of rehabilitation were not significant. This would indicate that the CADL intervention were specifically useful for those with moderate to severe stroke and those receiving rehabilitation at an in-patient unit. The feasibility testing of the newly developed F@ce intervention in study IV showed that it was feasible to use, and that the fidelity, adherence and acceptability of the intervention were good. The participants had positive outcomes in performance (n=4) and satisfaction with the performance (n=6) of daily activities according to Canadian Occupational Performance measure (COPM) and several participants had clinically significant improvements in different domains in the Stroke Impact Scale (SIS).CONCLUSION: The studies within this thesis enabled the development and evaluation of a new rehabilitation intervention, F@ce, using ICT which is relevant in this time, with the rapid digitalization in the society, healthcare and rehabilitation. The knowledge from the previously developed CADL study, along with the experiences of people after stroke and healthcare professionals’ use of ICT, and the modelling of F@ce together with stakeholders created a strong foundation for the new intervention. Using a team-based, person-centred intervention with the support of ICT seemed to enable people to perform daily activities and thus increase their participation in everyday life.List of scientific papersI. Martha Gustavsson, Charlotte Ytterberg, Mille Nabsen Marwaa, Kerstin Tham & Susanne Guidetti. Experiences of using information and communication technology within the first year after stroke – a grounded theory study. Disability and Rehabilitation. 2016, 40, 561-568. https://doi.org/10.1080/09638288.2016.1264012 II. Martha Gustavsson, Charlotte Ytterberg, Susanne Guidetti. Exploring future possibilities of using Information and Communication Technology in multidisciplinary rehabilitation after stroke – a grounded theory study. [Submitted]III. Martha Gustavsson, Susanne Guidetti, Gunilla Eriksson, Lena von Koch, Charlotte Ytterberg. Factors affecting outcome in participation one year after stroke: a secondary analysis of a randomised controlled trial. Journal of Rehabilitation Medicine. 2019, 51, 160-166. https://doi.org/10.2340/16501977-2523 IV. Martha Gustavsson, Charlotte Ytterberg, Kerstin Tham, Magnus Andersson, Uno Fors, Susanne Guidetti. A single group feasibility study of F@ceTM, a team based, person-centred intervention for rehabilitation after stroke supported by Information and Communication Technology. [Manuscript]</p
Variations on the Author
No full text“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Determinants of age-related brain iron accumulation and links to neurocognitive functions
No full textIron is crucial for development and normal functioning of the brain. With increasing age, it accumulates in the cells and can cause irreparable damage, affecting both the structure and function of the brain. Despite these findings, the factors which influence iron accumulates and the longitudinal effects of iron are still poorly understood. This doctoral thesis aimed to explore what influences brain iron accumulation in normal aging, and how this accumulation impacts molecular, and functional properties of the brain, and working-memory.Study I investigated if iron accumulation in striatum and DLPFC affected working memory change in normal aging, and if this accumulation and relationship to performance varied based on availability of dopamine, specified by COMT genotype status. We found that iron accumulated in both striatum and DLPFC. Greater iron accumulation in DLPFC was related to more deleterious change in working-memory performance. In addition, iron accumulation was amplified in older adults with presumably lowest levels of dopamine. These individuals were also driving the link between changes in iron and working-memory performance.Study II investigated if iron was linked to dopamine receptor availability and whether this association affected working memory. The study revealed that more iron was related to lower receptor availability in DLPFC and that this, coupled together with older age, contributed to reduced brain activity during a working-memory task. Additionally, the reduction in brain activity was in turn related to poorer task performance.Study III assessed (1) if brain iron content and accumulation were related to longitudinal changes in in brain activity during working-memory performance in normal aging, (2) potential association with glutamate, and (3) whether glutamate mitigated iron-brain activity relationship. In this study, we found that younger adults with initial elevated iron down-regulated more brain activity over a 3-year period, while performing the task. The results also showed a potential age-dependent relationship between iron and glutamate, such that younger adults with elevated iron content had more glutamate in DLPFC.Study IV explored biological and lifestyle factors that might influence iron accumulation in normal aging. Here, blood iron markers, physical activity, diet, and cardiovascular health significantly influenced brain iron content and accumulation. Furthermore, the associations between these factors and brain iron were influenced by age, highlighting the complexity of these relationships.Collectively, our studies show that age-related brain iron accumulation can be influenced by a number of factors, both modifiable and non-modifiable, such as lifestyle choices and genetic predisposition respectively. The potential to attenuate the accumulation of brain iron is essential, as we have also shown that iron can have deleterious effects on brain function and cognition older age. Finally, the links between iron and the dopaminergic system could partially explain age-related alterations, such as diminished receptor availability. Understanding the role of neurotransmitters on attenuating iron accumulation can pave the way for tailoring interventions in neurodegenerative disorders.List of scientific papersI. Gustavsson, J*., Papenberg, G*., Falahati, F., Laukka, E. J., & Kalpouzos, G. (2022). Contributions of the Catechol-O-Methyltransferase Val158Met Polymorphism to Changes in Brain Iron Across Adulthood and Their Relationships to Working Memory. Frontiers in Human Neuroscience. 16. *Authors contributed equally to this work as first authors. https://doi.org/10.3389/fnhum.2022.838228 II. Gustavsson, J., Johansson, J., Falahati, F., Andersson, M., Papenberg, G., Avelar-Pereira, B., Bäckman, L., Kalpouzos, G., & Salami, A. (2023). The irondopamine D1 coupling modulates neural signatures of working memory across adulthood. NeuroImage. 2023, 279:12323. https://doi.org/10.1016/j.neuroimage.2023.120323 III. Gustavsson, J., Falahati, F., Sitnikov, R., Manzouri, A., Papenberg, G., Salami, A., Persson, J., Kalpouzos, G. Influences of brain iron and glutamate on changes in brain activity during working memory in aging. [Manuscript]IV. Gustavsson, J., Ištvánfyová, Z., Papenberg, G., Falahati, F., Laukka, E. J., Lehtisalo, J., Mangialasche, F., Kalpouzos, G. Lifestyle, biological and genetic determinants of brain iron accumulation across adulthood. [Submitted]</p
A high-resolution TEM/EELS study of the effect of doping elements on the sliding mechanisms of sputtered WS2 coatings
No full textIt has been shown many times that cosputtering low-friction coatings of molybdenum disulfide (MoS2) and tungsten disulfide (WS2) with other elements can improve the structural, mechanical, and tribological properties. To achieve the lowest friction, MoS2 or WS2 should be doped with element(s) improving the hardness and density of the coatings. On the other hand, such elements, or their compounds, should not be present in the outermost molecular layers at the sliding interface. This article suggests that there are important differences between how MoS2 and WS2 coatings respond to or react with doping elements, despite the almost identical structure and behavior of the undoped materials. Two systems have been investigated by high-resolution transmission electron microscopy (HRTEM) and scanning TEM (STEM) electron energy loss spectroscopy (EELS), W-S-C-Cr and W-S-C-Ti, and showed significant amounts of oxides, which typically formed a layer just underneath the crystalline WS2 top layer. Further, carbon was almost completely absent in the tribofilms, despite the fact that the as-deposited coatings contained as much as 40–50 at% C. An interesting observation here is that WS2 basal planes surround or embed Fe wear particles, suggesting a relatively strong adhesion or a Fe-S chemical bonding between iron/steel and WS2. The result of this is that the wear particles become pacified and remain in the contact as low-friction materia
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