| 1. |
- 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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| 2. |
- Speliotes, Elizabeth K., et al.
(författare)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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| 3. |
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1973. En träff med tidsandan
- 2008
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Ingår i: 1973. En träff med tidsandan. - Lund : Nordic Academic Press. - 9789189116979 ; , s. 11-21
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Barrdunge, Mats, 1956-
(författare)
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Upplysningens ljus i Norrland : Om fyra aktörer vid Härnösands gymnasium under 1700-talet
- 2024
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The purpose of this dissertation is to investigate the occurrence of Enlightenment ideas in the central Northern part of Sweden during the 18th century, focussing on a carefully chosen set of characters: one bishop and three senior lecturers at the gymnasium of Härnösand, in the province of Ångermanland. This dissertation uses a perspective of circulation of knowledge, inspired by the research field of history of knowledge. The methodological approach in this study is to use a complex thematic definition with eight different components of Enlightenment in the analysis of relevant texts and writings by selected characters, supplemented with a contextual perspective.A center for the ecclesiastical culture of learning in Norrland was Härnösand, and the gymnasium was Norrland´s only higher education institution, north of Gävle, for 200 years between 1650 and 1850. During the 18th century, three senior lecturers were employed there, each working for the dissemination of Enlightenment ideas, through both writing and practical action: Magnus Stridsberg (1696–1772), Nils Gissler (1715–1771) and Pehr Hellzén (1744–1811). At the same time as these, the diocese was governed by Bishop Olof Kiörning (1704–1778), who was also the Supervisor of the gymnasium. He was influenced by Enlightenment ideas and showed a strong interest in advanced agriculture and contributed to the church taking greater part in the social and economic development. The first lecturer, Magnus Stridsberg, created new methods in agriculture concerning soil mixing, manure production and grain nurseries, but has mainly been remembered for his threshing machine which came into general use in central Norrland during the second half of the 18th century. The next lecturer, Nils Gissler, was Norrland´s first provincial physician and introduced a scientific approach to practical medicine in the region. With the dissemination of knowledge and a great deal of personal commitment, he showed interest in mental illness and treated his patients in his own home. He laid the foundation for an infrastructure for public health care in the province. He was a member of the Swedish Academy of Sciences and wrote many scientific papers, and in modern times has received international scientific recognition for the discovery of the inverted barometer effect. The third lecturer, Pehr Hellzén, was a pre-industrial contractor in the sawmill and shipbuilding industry in central Norrland and founded the shipyard and shipping company Wifstavarf in 1798. Hellzén gave an important inaugural speech when the new gymnasium was built: Om uplysningens verkan på människors och samhällens sällhet (On the effect of Enlightenment on the happiness of people and societies), printed in Swedish 1794. He gave Härnösand a special role within the Enlightenment, described as a driving force behind the development of science, education and economic in the region.The Enlightenment that developed in Härnösand can be summarized as a Christian ‘utilism’ with clear Enlightenment traits such as reason, experience-based science, the dissemination of knowledge, humanity, social reforms, religious tolerance & religion of reason, and utility & virtue. It rested on an evangelical Lutheran foundation, it regarded the meaning of ‘utilism’ in a broader sense than just financial gain, and included central Enlightenment ideas.
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| 5. |
- Bock, David, 1976, et al.
(författare)
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Learning curve for robot-assisted laparoscopic radical prostatectomy in a large prospective multicentre study
- 2022
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Ingår i: Scandinavian Journal of Urology. - : Medical Journals Sweden AB. - 2168-1805 .- 2168-1813. ; 56:3, s. 182-190
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Tidskriftsartikel (refereegranskat)abstract
- Objective Differences in outcome after radical prostatectomy for prostate cancer can partly be explained by intersurgeon differences, where degree of experience is one important aspect. This study aims to define the learning curve of robot-assisted laparoscopic prostatectomy (RALP) regarding oncological and functional outcomes. Materials and methods Out of 4003 enrolled patients in the LAPPRO trial, 3583 met the inclusion criteria, of whom 885 were operated on by an open technique. In total, 2672 patients with clinically localized prostate cancer from seven Swedish centres were operated on by RALP and followed for 8 years (LAPPRO trial). Oncological outcomes were pathology-reported surgical margins and biochemical recurrence at 8 years. Functional outcomes included patient-reported urinary incontinence and erectile dysfunction at 3, 12 and 24 months. Experience was surgeon-reported experience before and during the study. The relationship between surgeon experience and functional outcomes and surgical margin status was analysed by mixed-effects logistic regression. Biochemical recurrence was analysed by Cox regression, with robust standard errors. Results The learning curve for positive surgical margins was relatively flat, with rates of 21% for surgeons who had performed 0-74 cases and 24% for surgeons with > 300 cases. Biochemical recurrence at 4 years was 11% (0-74 cases) and 13% (> 300 cases). Incontinence was stable over the learning curve, but erectile function improved at 2 years, from 38% (0-74 cases) to 53% (> 300 cases). Conclusions Analysis of the learning curve for surgeons performing RALP showed that erectile function improved with increasing number of procedures, which was not the case for oncological outcomes.
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| 6. |
- CARLSSON, STEFAN, 1987, et al.
(författare)
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Age at surgery, educational level and long-term urinary incontinence after radical prostatectomy
- 2011
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Ingår i: BJU International. - 1464-4096 .- 1464-410X. ; 108:10, s. 1572-1577
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE To identify predictors for long-term urinary leakage after radical prostatectomy. PATIENTS AND METHODS A consecutive series of 1411 patients who underwent radical prostatectomy (open surgery or robot-assisted laparoscopic surgery) at Karolinska University Hospital between 2002 and 2006 were invited to complete a study-specific questionnaire. Urinary leakage was defined as use of two or more pads per day. RESULTS Questionnaires were received from 1288 (91%) patients with a median follow-up of 2.2 years. Age at surgery predicts in an exponential manner long-term urinary incontinence at follow-up with an estimated relative increase of 6% per year. Among the oldest patients, 19% had urinary incontinence compared with 6% in the youngest age group, translating to a prevalence ratio of 2.4 (95% confidence interval [CI], 1.5-8.1). Low educational level, as compared with high, yielded an increased age-adjusted prevalence ratio of 2.5 (95% CI, 1.7-3.9). Patients who had undergone salvage radiation therapy had an increased prevalence of urinary incontinence (2.5; 95% CI, 1.6-3.8), as did those with respiratory disease (2.4; 95% CI, 1.3-4.4). Body mass index, prostate weight, presence of diabetes or previous transurethral resection did not appear to influence the prevalence of urinary incontinence. CONCLUSIONS In this series, a patient's age at radical prostatectomy influenced, in an exponential manner, his risk of long-term urinary incontinence. Other predictors are low educational level, salvage radiation therapy and respiratory disease. Intervention studies are needed to understand if these data are relevant to the prevalence of urinary leakage if a radical prostatectomy is postponed in an active monitoring programme.
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| 7. |
- Dirke, Karin Elisabet, 1967-, et al.
(författare)
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Avslutning : Döden i idéhistorisk spegel
- 2022
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Ingår i: Dödens idéhistoria. - Stockholm : Appell Förlag. - 9789198664409 ; , s. 297-309
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Dirke, Karin Elisabet, 1967-, et al.
(författare)
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Inledning
- 2022
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Ingår i: Dödens idéhistoria. - Stockholm : Appell Förlag. - 9789198664409 ; , s. 7-25
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- I Dödens idéhistoria undersöker nio skribenter den västerländska idévärldens dödsföreställningar från antiken till våra dagar. De visar hur döden har hanterats, förnekats och konfronterats genom historien och hur 1900-talet förändrade människors sätt att förhålla sig till döden på ett grundläggande plan. Här skildras historiska företeelser som förberedelser för döden, begravningsritualer och spiritistiska uppfattningar liksom hur man har sett på självmord och dödande av andra människor och djur.Författarna lyfter fram banden till religion, vetenskap, politik, moral och estetik. Mångfalden av infallsvinklar och de långa tidsperspektiven tydliggör hur föreställningar om döden är knutna till hur världsbilden förändras, till idéströmningar och till levnadsvillkor – samt hur förväntningarna på livet efter detta kan forma våra sätt att leva.
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| 9. |
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Dödens idéhistoria
- 2022
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- I Dödens idéhistoria undersöker nio skribenter den västerländska idévärldens dödsföreställningar från antiken till våra dagar. De visar hur döden har hanterats, förnekats och konfronterats genom historien och hur 1900-talet förändrade människors sätt att förhålla sig till döden på ett grundläggande plan. Här skildras historiska företeelser som förberedelser för döden, begravningsritualer och spiritistiska uppfattningar liksom hur man har sett på självmord och dödande av andra människor och djur.Författarna lyfter fram banden till religion, vetenskap, politik, moral och estetik. Mångfalden av infallsvinklar och de långa tidsperspektiven tydliggör hur föreställningar om döden är knutna till hur världsbilden förändras, till idéströmningar och till levnadsvillkor – samt hur förväntningarna på livet efter detta kan forma våra sätt att leva.
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| 10. |
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Humaniora i kunskapssamhället. En nordisk debattbok
- 2012
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- I det nuvarande kunskapssamhället tenderar kunskap att reduceras till ett medel för ekonomisk tillväxt och omedelbar praktisk nytta. Men humanistisk kunskap har större och viktigare uppgifter i samhället än så, till exempel att förmedla och kritiskt granska vårt kulturarv, utveckla förståelsen av olika kulturella uttryck och reflektera över vår historiska situation. Det är kunskap som är oumbärlig i ett demokratiskt samhälle i en globaliserad värld. Att se humanistisk kunskap i ett samhällsperspektiv synliggör såväl dess relevans som dess samhälleliga villkor. Texterna kastar sammantaget kritiskt ljus över forskningspolitiska tendenser, utmaningar och problem som humaniora står inför och ger konstruktiva alternativ. Antologin "Humaniora i kunskapssamhället" innehåller både vetenskapsfilosofiska och historiska perspektiv och drar nytta av ett flerårigt tvärdisciplinärt samarbete mellan nordiska forskare som koordinerats inom Nordiskt Sommaruniversitet med stöd från Nordiska Ministerrådet. Antologin riktar sig såväl till beslutsfattare som till forskare, studenter och andra som är intresserade av humanioras roll i samhället.
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