| 1. |
- Anthoni, Heidi, et al.
(author)
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A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
- 2007
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 16:6, s. 667-77
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Journal article (peer-reviewed)abstract
- DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families. The observed association was replicated in an independent set of 251 German families. Two overlapping risk haplotypes spanning 16 kb were identified in both sample sets separately as well as in a joint analysis. In the German sample set, the odds ratio for the most significantly associated haplotype increased with dyslexia severity from 2.2 to 5.2. The risk haplotypes are located in an intergenic region between FLJ13391 and MRPL19/C2ORF3. As no novel genes could be cloned from this region, we hypothesized that the risk haplotypes might affect long-distance regulatory elements and characterized the three known genes. MRPL19 and C2ORF3 are in strong LD and were highly co-expressed across a panel of tissues from regions of adult human brain. The expression of MRPL19 and C2ORF3, but not FLJ13391, were also correlated with the four dyslexia candidate genes identified so far (DYX1C1, ROBO1, DCDC2 and KIAA0319). Although several non-synonymous changes were identified in MRPL19 and C2ORF3, none of them significantly associated with dyslexia. However, heterozygous carriers of the risk haplotype showed significantly attenuated expression of both MRPL19 and C2ORF3, as compared with non-carriers. Analysis of C2ORF3 orthologues in four non-human primates suggested different evolutionary rates for primates when compared with the out-group. In conclusion, our data support MRPL19 and C2ORF3 as candidate susceptibility genes for DYX3.
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| 2. |
- Berg, Håkan, et al.
(author)
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Characterization of antibodies for quantitative determination of spiggin protein levels in male and female three-spined stickleback (Gasterosteus aculeatus)
- 2009
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In: Reproductive Biology and Endocrinology. - : BioMed Central (BMC). - 1477-7827. ; 7:1
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Journal article (peer-reviewed)abstract
- Spiggin is an adhesive glycoprotein produced in the kidney of sticklebacks during the breeding season and is subsequently secreted into the urinary bladder from where it is employed for nest building. Since the production of the protein has been shown to be under androgenic control, spiggin has been suggested to be a useful biomarker for androgenic substances in the environment. In this study, two polyclonal spiggin antibodies based on synthetic peptides and one polyclonal antibody directed against native spiggin have been characterized. The antibodies ability to identify spiggin was investigated by quantitative immunoassay. For both peptide antibodies the quantification range was determined to be between 1 and 80 ng spiggin and determination of renal spiggin levels from immature and mature males displayed a 15-fold increase in total spiggin content of the kidney resulting in a 6-fold increase in male kidney weight due to hypertrophy. The kidney somatic index (KSI) was found to correlate well with the total renal spiggin content and therefore it appears that KSI in sticklebacks could be used as an initial method to identify substances displaying androgenic effects. Furthermore, western blot analysis revealed that the polyclonal antibodies recognize different spiggin isoforms and that spiggin can be detected in the urinary bladder and kidney of both males and female sticklebacks. In order to develop a quantitative detection method for native spiggin it is necessary to produce a standard that can be used in a bioassay. Due to the adhesive and polymerization characteristics of spiggin the protein is difficult to use as a standard in bioassays. So far spiggin has been shown to exist in at least 14 isoforms, all of which contain polymerization domains. To overcome the solubility problem we have produced recombinant spiggin gamma, with only one polymerization domain, that can be expressed in E. coli. Western blot analysis demonstrated that the polyclonal antibodies were able to detect recombinant spiggin gamma protein in bacterial cell lysate, suggesting that it may be developed into a useful source of standard spiggin to be used for quantitative determination of androgen induced spiggin production in sticklebacks.
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| 3. |
- Heidbüchel, Hein, et al.
(author)
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Recommendations for participation in leisure-time physical activity and competitive sports in patients with arrhythmias and potentially arrhythmogenic conditions - Part 1 : Supraventricular arrhythmias and pacemakers
- 2006
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In: European Journal of Cardiovascular Prevention & Rehabilitation. - : Oxford University Press (OUP). - 1741-8267 .- 1741-8275. ; 13:4, s. 475-484
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Journal article (peer-reviewed)abstract
- This document by the Study Group on Sports Cardiology of the European Society of Cardiology extends on previous recommendations for sports participation for competitive athletes by also incorporating guidelines for those who want to perform recreational physical activity. For different supraventricular arrhythmias and arrhythmogenic conditions, a description of the relationship between the condition and physical activity is given, stressing how arrhythmias can be influenced by exertion or can be a reflection of the (patho)physiological cardiac adaptation to sports participation itself. The following topics are covered in this text: sinus bradycardia; atrioventricular nodal conduction disturbances; pacemakers; atrial premature beats; paroxysmal supraventricular tachycardia without pre-excitation; pre-excitation, asymptomatic or with associated arrhythmias (i.e. Wolff -Parkinson-White syndrome); atrial fibrillation; and atrial flutter. A related document discusses ventricular arrhythmias, channelopathies and implantable cardioverter defibrillators.
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| 4. |
- Hoffmann, Mikael, et al.
(author)
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Risk talk : rhetorical strategies in consultations on hormone replacement therap
- 2005
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In: Health, Risk and Society. - Hants, UK : Carfax Publishing. - 1369-8575 .- 1469-8331. ; 5:2, s. 139-154
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Journal article (peer-reviewed)abstract
- When analysing risk discussions in medical settings it is important to consider the specific activity type. In this qualitative study 20 first-time consultations by healthy women regarding hormone replacement therapy (HRT) in the menopause the risk discussion is asymmetrical with the doctors dominating. Despite being set up as a specific opportunity for women in the menopause to discuss problems and risks, it comes forth as a decision-making activity in a traditional medical setting. The consultations fulfil to a high extent the demands for informed decision making, but the risk discussions are recontextualised into a cost-benefit discourse with a typical implicit quantitative bias. The doctors use several different rhetorical strategies such as positive introduction of HRT, embedding drawbacks in positive introductions and/or exits thereby diminishing them. The word risk is avoided to a considerable extent and the term 'drawbacks' is used instead. The most obvious strategy is to move from the woman's symptoms to aspects of prevention, thus changing the discussion from the menopause and different strategies to cope with menopausal problems into a medically oriented discussion of pharmacological treatment alternatives. The 'change of life' in these talks is entirely conceptualised within a 'medical model'.
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| 5. |
- Ljungdahl, Jonas, 1979-
(author)
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Structure and properties of Vasa oak
- 2006
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Licentiate thesis (other academic/artistic)abstract
- The Vasa ship is not adequately supported. Measurements of the hull show that the ship deforms and rotate towards the port side. In addition, damages on the hull at support areas have been observed. The damages are due to high compressive loads. At damaged zones the support has been removed and the loads are thus transferred to adjacent support stanchions. In order to design an improved support, knowledge of the mechanical behaviour of the material is needed. In particular, radial modulus, strength and deformation mechanisms are of interest. In the present study, the mechanical behaviour of recent oak and oak from Vasa is studied. Furthermore, effects of PEG content, degradation and moisture on the properties of Vasa oak are investigated. Oak is characterized by a very abrupt change from earlywood to latewood, where the latewood is much denser than earlywood. Also present in oak are large rays in the radial direction of the wood. Small specimens were tested in compression using Digital Speckle Photography (DSP) in order to obtain strain fields of the whole specimen surface. This technique also provided data on failure mechanisms. Dynamic mechanical thermal analysis (DMTA) was performed to establish differences in moisture softening. In radial compression, modulus and strength of Vasa oak are reduced by 50% compared with recent oak. A significant change of failure mechanism is observed for Vasa oak. In recent oak, failure in radial compression is by continuous folds of rays in the earlywood followed by continued plastic collapse of the earlywood layer. In Vasa oak rays show a more brittle fracture in each earlywood region. DMTA results indicate no effect on moisture softening of Vasa oak from presence of PEG although more work is needed to confirm this. Moisture adsorption for PEG-extracted Vasa oak is not significantly higher than for recent oak below 60% RH, suggesting that the extent of degradation of Vasa oak is limited. Vasa oak containing PEG is much more hygroscopic than PEG-extracted Vasa oak already at 50%. This difference is increasing with increasing relative humidity.
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| 6. |
- True, H., et al.
(author)
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The design and performance of the European freight wagon standard suspensions
- 2005
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In: Am Soc Mech Eng Rail Transp Div Publ RTD. - 0791842290 - 9780791842294 ; , s. 9-18
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Conference paper (peer-reviewed)abstract
- In the paper we present the three most common European standard freight wagon suspensions. It is characteristic for the European suspensions that they are all primary suspensions without a bolster. The design and the function of their single elements are described. New results on the nature of dry friction and its influence on the damping characteristics are presented. Finally a few theoretical investigations of the dynamics of European freight wagons are surveyed with emphasis on the calculations of the critical speed. The results are compared with corresponding results for American wagons.
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