| 1. |
- Roos, Sara, 1979, et al.
(author)
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Subnormal levels of POLgA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia
- 2013
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 22:12, s. 2411-2422
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Journal article (peer-reviewed)abstract
- The POLG1 gene encodes the catalytic subunit of mitochondrial DNA (mtDNA) polymerase γ (POLγ). We here describe a sibling pair with adult-onset progressive external ophthalmoplegia, cognitive impairment and mitochondrial myopathy characterized by DNA depletion and multiple mtDNA deletions. The phenotype is due to compound heterozygous POLG1 mutations, T914P and the intron mutation c.3104 + 3A > T. The mutant genes produce POLγ isoforms with heterozygous phenotypes that fail to synthesize longer DNA products in vitro. However, exon skipping in the c.3104 + 3A > T mutant is not complete, and the presence of low levels of wild-type POLγ explains patient survival. To better understand the underlying pathogenic mechanisms, we characterized the effects of POLγ depletion in vitro and found that leading-strand DNA synthesis is relatively undisturbed. In contrast, initiation of lagging-strand DNA synthesis is ineffective at lower POLγ concentrations that uncouples leading strand from lagging-strand DNA synthesis. In vivo, this effect leads to prolonged exposure of the heavy strand in its single-stranded conformation that in turn can cause the mtDNA deletions observed in our patients. Our findings, thus, suggest a molecular mechanism explaining how POLγ mutations can cause mtDNA deletions in vivo.
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| 2. |
- Austeng, Dordi, et al.
(author)
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Incidence of and risk factors for neonatal morbidity after active perinatal care : extremely preterm infants study in Sweden (EXPRESS)
- 2010
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In: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 99:7, s. 978-992
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Journal article (peer-reviewed)abstract
- Aims: The aim of this study was to determine the incidence of neonatal morbidity in extremely preterm infants and to identify associated risk factors. Methods: Population based study of infants born before 27 gestational weeks and admitted for neonatal intensive care in Sweden during 2004-2007. Results: Of 638 admitted infants, 141 died. Among these, life support was withdrawn in 55 infants because of anticipation of poor long-term outcome. Of 497 surviving infants, 10% developed severe intraventricular haemorrhage (IVH), 5.7% cystic periventricular leucomalacia (cPVL), 41% septicaemia and 5.8% necrotizing enterocolitis (NEC); 61% had patent ductus arteriosus (PDA) and 34% developed retinopathy of prematurity (ROP) stage >= 3. Eighty-five per cent needed mechanical ventilation and 25% developed severe bronchopulmonary dysplasia (BPD). Forty-seven per cent survived to one year of age without any severe IVH, cPVL, severe ROP, severe BPD or NEC. Tocolysis increased and prolonged mechanical ventilation decreased the chances of survival without these morbidities. Maternal smoking and higher gestational duration were associated with lower risk of severe ROP, whereas PDA and poor growth increased this risk. Conclusion: Half of the infants surviving extremely preterm birth suffered from severe neonatal morbidities. Studies on how to reduce these morbidities and on the long-term health of survivors are warranted.
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| 3. |
- Berg, Elisabeth Gräslund, et al.
(author)
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Praktiker som gör skillnad : Om den verb-inriktade metoden
- 2013
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In: Historisk Tidskrift. - 0345-469X .- 2002-4827. ; 133:3, s. 335-354
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Journal article (peer-reviewed)abstract
- This article discusses the so-called verb-oriented method and its role in the research project Gender and Work in early modern Sweden (GaW), which is based at Uppsala University. It provides a presentation of the GaW-database, which has been designed to allow analysis according to the verb-method. Finally, the article points out that this method can be combined with a number of different theoretical approaches as long as the focus is on practices. It is therefore compatible with the approaches of e.g., Judith Butler, Michel de Certeau, and Amartya Sen. Work is defined as "time-use with the purpose of making a living" and the article discusses why data on time-use, or actual work activities, are better suited for research into early modern Swedish working life than other types of data. It shows that activities are usually described in the sources by verb-phrases, and explains how and from what sources verb-phrases are collected and analyzed within the project. In order to allow for generalizations the verb-method presupposes large amounts of data. This is the rationale for the GaW-database, which at present includes around 5000 verb-phrases and 75000 data posts.
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| 4. |
- Bernerstedt, Thomas, et al.
(author)
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3500 kyrkor : Problem eller möjlighet. 8 Restuareringsexempel
- 2014
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Reports (pop. science, debate, etc.)abstract
- I kyrkorna finner man de högsta kvaliteterna av arkitektur och konst som har stått i mänsklig makt att uppbringa. Kulturarvets värde är högt. Arkitektur är en konstart som förstärker funktionen/verksamheten – på samma sätt som t.ex. musik, poesi, skulptur eller måleri. Konstarterna går utöver funktionerna/verksamheterna, därför finns det alltid nya möjligheter att bearbeta. Restaureringskonstens uppgift är att tillvara arkitekturkvaliteterna, utveckla dem och förhöja dem. Det finns ungefär 3 500 kyrkor inom Svenska kyrkan, en tredjedel medeltida och entredjedel från 1950–60-talen. Sammantaget är det en komplex samling byggnader. Majoriteten av 6,4 miljoner medlemmar i Svenska kyrkan är intresserade av att kyrkobyggnaderna tas om hand. Färre säger sig vara intresserade av att aktivt delta i kyrkans kärnverksamhet. Men kyrkobyggnaden och verksamheten hänger samman; de enda byggnader som haft enoch samma användning i 1000 år är kyrkor. Att vårda och utveckla kyrkobyggnadsmiljöernaingår inte i kyrkans kärnverksamheter. Varför inte? Sedan relationsförändringen år 2000 då kyrkan skildes från staten har inga långsiktiga visioner eller strategier om förvaltningen av Sveriges mest tillgängliga kulturskatt framkommit. Inget drastiskt hände år 2000; antalet gudstjänstbesökare började minska långt tidigare. Varför ska vi vara så oroliga nu när vi inte var det förut? Våra kyrkor är i bättre skick än i något annat land i Europa, vi har aldrig haft det så bra som nu, ändå är det först nu som vi inte anser oss ha råd att sköta denna del av kulturarvet. Andra länder har en mängd olika sätt att finansiera och arbeta med kyrkobyggnader. Sverige har bara ett sätt, statsbidrag. En mängd oprövade möjligheter finns – ett gyllene ägg att förvalta! 20 studenter i Restaureringskonst har arbetat med kunskapsuppbyggnad i teori och praktik under året. Våra studier har innefattat tre innerstadskyrkor och fem andra kyrkor i Stockholms stift, praktiskt nåbara för våra studier. Vi är väl medvetna om de helt olikartade förutsättningar som finns i vårt avlånga land med Europas snabbaste urbaniseringstakt, även om vi haft ett begränsat antal fallstudier när vi tränat arbetsprocess och metodik. Året har förutom projektarbete omfattat föreläsningar, seminarier, workshops och studieresor inom restaureringshistoria, dokumentation med 3D-laserscanning, kulturhistoriskvärdering och analys, material och metoder för restaurering, gestaltning och bevarande,presentation och kommunikation. Av årets studenter är tio arkitekter, en ingenjör, sex antikvarier, två konservatorer och en förvaltare. Tack vare kursens blandade professioner är inledningdiskussionerna och det interna kunskapsutbytet en viktig del av utbildningen, liksom det nätverk som erbjuds genom inbjudna föreläsare och specialister inom praktisk restaurering och i forskningsfronten. Genom studiebesök och studieresor får studenterna kontakter ochintryck av hur restaurering tillämpas och diskuteras i olika sammanhang. I år har vi gjort studieresor till Tyskland och England samt inom Sverige. Kyrkan har i alla tider stått för högsta kvalitet i arkitektur och konst – årets kurs vill visa värdet av denna resurs och hur vi kan arbeta med uppgiften att upprätthålla och gärna öka kulturarvets kvaliteter genomrestaureringskonst.Vi tackar alla som bidragit till genomförandet av vår kurs i år; särskilt Stockholms stift och de församlingar som har gett oss tillgång till sina kyrkor.
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| 5. |
- Ekebergh, Margaretha, et al.
(author)
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The encounter between Caring Science and the Lifeworld
- 2012
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Conference paper (other academic/artistic)abstract
- Scientific knowledge is characterized by abstract descriptions and structures which are not identical to the lived reality. Scientific knowledge cannot directly be applied on the lived existence, without being transformed and adjusted to the individual’s very complex lifeworld. Learning in caring contexts is an encounter between the scientific knowledge of caring and the learner’s lifeworld. This encounter needs a support that has the potential to bring caring science to life and to start an intertwining process with the lifeworld that creates embodied knowledge. Lifeworld didactics are built on an approach about learning as an individual process and that learning takes its point of departure in the learner’s previous experiences, which accompanies the learning process. The challenges within lifeworld didactics is to be open and sensitive to the learner’s lifeworld and with tact support the development of a reflective attitude in the learning process. Lifeworld didactics strategies are of crucial importance in different caring contexts. This paper presents three lifeworld led phenomenological research projects that have focused on acquiring caring science knowledge in caring contexts, more precisely it is the encounter between caring science and the lifeworld. The research is within the framework of lifeworld didactics, but the three projects each have a special focus. The first illustrates how the learning and caring processes merge and become an intertwined phenomenon in nursing students’ learning. The research is carried out in Dedicated Educational Units (DEU), within psychiatric and orthopedic care. Three perspectives are illustrated in the project; that of the students, the supervisors and the patients. The overall aim is to develop a supervision model that has the potential to support the students’ learning processes as well as the patients’ caring processes. The second illustrates how the concepts ‘patient perspective’ and ‘patient participation’ can be implemented in a clinical setting for elderly patients in order to improve the quality of care. This project is inspired by Participatory Action Research and is built on collaboration between the university and the health care services. The aim is to develop reflective educational material in terms of filmed drama episodes, based on the result of two studies about elderly patients’ participation in team meetings. The third illustrates the perspective of lifeworld didactics in two phenomenological studies that focus on Students` learning in an encounter with patients and Students` learning on the way to becoming professional - supported by supervision in pairs of students. The findings show patterns of essential meanings that have specific significance in the art of supporting students` learning in clinical education. These are; the significance of responsibility, its extent and shape in relation to the supervisor’s ability to adopt a reflective supervising attitude and to be supportive enough but at the same time to not assume the responsibility. The learning process shows to be a challenge for students, where safety in pairs of students has a great significance when coping with the challenge to learn and develop.
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| 6. |
- Ekebergh, Margaretha, et al.
(author)
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The Encounter between Caring Sciences and the Lifeworld : The Art of Making Knowledge Alive and Embodied
- 2012
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Conference paper (peer-reviewed)abstract
- Scientific knowledge is characterized by abstract descriptions and structures, which are not identical to the lived reality. Scientific knowledge cannot directly be applied on the lived existence, without being transformed and adjusted to the individual’s very complex lifeworld. Learning in caring contexts is an encounter between the scientific knowledge of caring and the learner’s lifeworld. This encounter needs a support that has the potential to bring caring science to life and to start an intertwining process with the lifeworld that creates embodied knowledge. Lifeworld didactics are built on an approach about learning as an individual process and that learning takes its point of departure in the learner’s previous experiences, which accompanies the learning process. The challenges within lifeworld didactics are to be open and sensitive to the learner’s lifeworld and with tact support the development of a reflective attitude in the learning process. Lifeworld didactics strategies are of crucial importance in different caring contexts. This symposium presents three lifeworld led phenomenological research projects that have focused on acquiring caring science knowledge in caring contexts, more precisely it is the encounter between caring science and the lifeworld. The research is within the framework of lifeworld didactics, but the three projects each have a special focus.
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| 7. |
- Hrastinski, Stefan, et al.
(author)
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Mer om nätbaserad utbildning : Presentation av en bok
- 2012
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Conference paper (other academic/artistic)abstract
- Boken “Mer om nätbaserad utbildning: fördjupning och exempel” riktar sig till de som vill veta mer om nätbaserad utbildning. Den ger möjlighet till fördjupning inom olika sätt att använda nätet för utbildning och innehåller många exempel. Kapitlen går bland annat in på ämnen som sociala medier i undervisningen samt dialog, kamratgranskning, bedömning och handledning via nätet.Författarna har haft som målsättning att förmedla sin erfarenhet och aktuella forskningsresultat på ett lättbegripligt sätt. Däremot tror vi inte att det finns enkla lösningar. Utveckling av nätbaserad utbildning är komplext och innebär en mängd tekniska och pedagogiska utmaningar. Därför har vi snarare lagt fokus på att bidra till fördjupad förståelse och reflektion. Denna bok bygger till stor del på forskning men är även nära kopplad till författarnas erfarenhet och praktik.Boken vänder sig till lärare, studenter och andra som arbetar med utveckling av nätbaserad utbildning. Den kan läsas som en fortsättning till den mer grundläggande boken “Nätbaserad utbildning: en introduktion” och riktar sig således till läsare med förkunskaper i området. Till boken hör en webbplats med ytterligare material samt länkar för inspiration och vidare läsning.Stefan Hrastinski är redaktör. Bokens kapitel är skrivna av Fredrik Andersson, Olle Bälter, Anneli Edman, Agneta Hult, Jimmy Jaldemark, Tanvir Kawnine, Christina Keller, Ola J Lindberg, Monica Liljeström, Jörgen Lindh, Marie Mörndal, Anders D Olofsson, Ulf Olsson, Linda Reneland-Forsman, Eva Rydberg Fåhræus, Elisabeth Saalman och Johan Thorbiörnson.
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| 10. |
- Knowles, Charles H., et al.
(author)
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The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group
- 2010
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In: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 59:7, s. 882-887
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Journal article (peer-reviewed)abstract
- Objective Guidelines on histopathological techniques and reporting for adult and paediatric gastrointestinal neuromuscular pathology have been produced recently by an international working group (IWG). These addressed the important but relatively neglected areas of histopathological practice of the general pathologist, including suction rectal biopsy and full-thickness intestinal tissue. Recommendations were presented for the indications, safe acquisition of tissue, histological techniques, reporting and referral of such histological material. Design Consensual processes undertaken by the IWG and following established guideline decision group methodologies. Results and conclusion This report presents a contemporary and structured classification of gastrointestinal neuromuscular pathology based on defined histopathological criteria derived from the existing guidelines. In recognition of its origins and first presentation in London at the World Congress of Gastroenterology 2009, this has been named 'The London Classification'. The implementation of this classification should allow some diagnostic standardisation, but should necessarily be viewed as a starting point for future modification as new data become available.
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