| 1. |
- Fugier, Charlotte, et al.
(författare)
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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
- 2011
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Ingår i: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 17:6, s. 720-725
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) and myotonic dystrophy of type 1 (DM1) or of type 2 (DM2) are caused by the expression of mutant RNAs containing expanded CUG or CCUG repeats, respectively. These mutant RNAs sequester the splicing regulator Muscleblind-like-1 (MBNL1), resulting in specific misregulation of the alternative splicing of other pre-mRNAs. We found that alternative splicing of the bridging integrator-1 (BIN1) pre-mRNA is altered in skeletal muscle samples of people with CDM1, DM1 and DM2. BIN1 is involved in tubular invaginations of membranes and is required for the biogenesis of muscle T tubules, which are specialized skeletal muscle membrane structures essential for excitation-contraction coupling. Mutations in the BIN1 gene cause centronuclear myopathy, which shares some histopathological features with myotonic dystrophy. We found that MBNL1 binds the BIN1 pre-mRNA and regulates its alternative splicing. BIN1 missplicing results in expression of an inactive form of BIN1 lacking phosphatidylinositol 5-phosphate-binding and membrane-tubulating activities. Consistent with a defect of BIN1, muscle T tubules are altered in people with myotonic dystrophy, and membrane structures are restored upon expression of the normal splicing form of BIN1 in muscle cells of such individuals. Finally, reproducing BIN1 splicing alteration in mice is sufficient to promote T tubule alterations and muscle weakness, a predominant feature of myotonic dystrophy.
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| 2. |
- Danielsson, Henrik, et al.
(författare)
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A Systematic Review of Longitudinal Trajectories of Mental Health Problems in Children with Neurodevelopmental Disabilities
- 2024
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Ingår i: Journal of Developmental and Physical Disabilities. - : Springer. - 1056-263X .- 1573-3580. ; 36, s. 203-242
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Forskningsöversikt (refereegranskat)abstract
- To review the longitudinal trajectories - and the factors influencing their development - of mental health problems in children with neurodevelopmental disabilities. Systematic review methods were employed. Searches of six databases used keywords and MeSH terms related to children with neurodevelopmental disabilities, mental health problems, and longitudinal research. After the removal of duplicates, reviewers independently screened records for inclusion, extracted data (outcomes and influencing factors), and evaluated the risk of bias. Findings were tabulated and synthesized using graphs and a narrative. Searches identified 94,662 unique records, from which 49 publications were included. The median publication year was 2015. Children with attention deficit hyperactivity disorder were the most commonly included population in retrieved studies. In almost 50% of studies, trajectories of mental health problems changed by < 10% between the first and last time point. Despite multiple studies reporting longitudinal trajectories of mental health problems, greater conceptual clarity and consideration of the measures included in research is needed, along with the inclusion of a more diverse range of populations of children with neurodevelopmental disabilities.
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| 3. |
- Gineste, Charlotte, et al.
(författare)
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Enzymatically dissociated muscle fibers display rapid dedifferentiation and impaired mitochondrial calcium control
- 2022
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Ingår i: iScience. - : Elsevier. - 2589-0042. ; 25:12
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Tidskriftsartikel (refereegranskat)abstract
- Cells rapidly lose their physiological phenotype upon disruption of their extracellular matrix (ECM)-intracellular cytoskeleton interactions. By comparing adult mouse skeletal muscle fibers, isolated either by mechanical dissection or by collagenase-induced ECM digestion, we investigated acute effects of ECM disruption on cellular and mitochondrial morphology, transcriptomic signatures, and Ca2+ handling. RNA-sequencing showed striking differences in gene expression patterns between the two isolation methods with enzymatically dissociated fibers resembling myopathic phenotypes. Mitochondrial appearance was grossly similar in the two groups, but 3D electron microscopy revealed shorter and less branched mitochondria following enzymatic dissociation. Repeated contractions resulted in a prolonged mitochondrial Ca2+ accumulation in enzymatically dissociated fibers, which was partially prevented by cyclophilin inhibitors. Of importance, muscle fibers of mice with severe mitochondrial myopathy show pathognomonic mitochondrial Ca2+ accumulation during repeated contractions and this accumulation was concealed with enzymatic dissociation, making this an ambiguous method in studies of native intracellular Ca2+ fluxes.
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| 4. |
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| 5. |
- Lindblom, Sebastian, et al.
(författare)
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Lifestyle counseling in patients with hypertension in primary health care and its association with antihypertensive pharmacotherapy
- 2024
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Ingår i: The Journal of Clinical Hypertension. - 1524-6175 .- 1751-7176.
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Tidskriftsartikel (refereegranskat)abstract
- The study aimed to investigate differences in hypertensive- and cardio-preventive pharmacotherapy depending on if patients with hypertension received lifestyle counseling or not, including the difference between men and women. Data from the Region Stockholm VAL database was used to identify all patients with a hypertension diagnosis and had visited a primary health care center within the past five years. Data included registered diagnoses, pharmacotherapy, and codes for lifestyle counseling. Logistic regression adjusted for age and comorbidity (diabetes, stroke, coronary heart disease, atrial fibrillation, gout, obesity, heart failure) was used, presenting results as odds ratios (OR) with 99% confidence interval (CI). The study included 130,030 patients with hypertension; 63,402 men and 66,628 women. Patients receiving recommended lifestyle counseling were more frequently treated with three or more hypertensive drugs: women OR 1.38 (1.31, 1.45) and men = 1.36 (1.30, 1.43); certain drug classes: calcium antagonists: women 1.09 (1.04, 1.14) and men 1.11 (1.06, 1.16); thiazide diuretics: women 1.26 (1.20, 1.34) and men 1.25 (1.19, 1.32); and aldosterone antagonists: women 1.25 (1.12, 1.41) and men 1.49 (1.34, 1.65). Patients receiving recommended level of lifestyle counseling with concomitant coronary heart disease, atrial fibrillation, diabetes, or stroke were more frequently treated with statins than those who did not. Further, recommended lifestyle counseling was significantly associated with anticoagulant treatment in patients with atrial fibrillation. Lifestyle counseling according to recommendations in national guidelines was significantly associated with a more thorough pharmacological treatment of hypertension, statins, and antithrombotic drugs as well as anticoagulants, in both men and women.
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| 6. |
- Madsen, Esben Elholm, et al.
(författare)
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Motivational predictors of children's involvement in out-of-school activities : An application of a football program
- 2023
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Ingår i: Scandinavian Journal of Medicine and Science in Sports. - Chichester : Wiley-Blackwell Publishing Inc.. - 0905-7188 .- 1600-0838. ; 33:1, s. 72-83
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Tidskriftsartikel (refereegranskat)abstract
- The “11 for Health in Denmark” in-school educational football program has shown to have numerous positive physiological and psychological effects in 10- to 12-year-old schoolchildren. A key part of the successful application of the program, however, has not yet been examined, namely the motivational processes underlying participation and behavioral changes. This study examined such motivational processes (i.e., autonomous motivation, beliefs, and intentions) using the trans-contextual model (TCM) and investigated if the 11 for Health in Denmark program increased intentions to participate in physical activity (PA) outside of school in 10- to 12-year-old schoolchildren. Using a web-based questionnaire, Danish-speaking schoolchildren (N = 276 [boys, 50.4%]; Mage = 10.44, SD = 0.35) from three schools and seven classes completed TCM-based questionnaires at three time-points (weeks 0, 1, and 5) while participating in the 11 for Health in Denmark program. Single-indicator structural equation modeling was performed to examine goodness-of-fit and parameter estimates. A path analysis using maximum likelihood estimation was used to test the direct and indirect effects of the TCM model. The results partly supported a mediation sequence, as we found significant direct effects in eight of 13 motivational variables (β = −0.25–0.83, p <0.05), indirect effects in one of nine variables (β = 0.15, p < 0.01), but no effects with regard to PA behavior. Findings provide evidence for a motivational link between Danish-speaking schoolchildren's autonomous and controlled motivation from in school to out of school, and may inform future interventions promoting motivation and participation in out of school PA. © 2022 The Authors. Scandinavian Journal of Medicine & Science In Sports published by John Wiley & Sons Ltd.
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| 7. |
- Olsson, Anne-Charlotte, et al.
(författare)
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Jämförelse mellan järntilldelning via injektion alternativt järntorv (Torvojärn Extra) till smågrisar
- 2018
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Ingår i: LTV-fakultetens faktablad.
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Annan publikation (populärvet., debatt m.m.)abstract
- Grisar föds med en begränsad mängd järn och grisar som inte har tillgång till jord att böka i, måste ges järntillskott för att förebygga anemi och dålig tillväxt. Detta järntillskott kan ges på olika sätt. För att undersöka grisars järnstatus analyseras oftast blodets hemoglobinvärde (Hb). Värden kring 100-120 g/l anses normala, men rekommendationerna varierar. Att enbart använda Hb-värde som bedömningsgrund för grisens järnstatus är också något som kritiseras. Syftet i denna studie har varit att jämföra tillväxt och blodvärden (Hb) hos grisar som tilldelats järn antingen via injektion eller via produkten TorvoJärn Extra (Lantmännen Lantbruk). Tillväxt och Hb- värden hos tre grisar per kull (liten, medel och stor vid födelsen) har undersökts. Det konkluderas att resultaten genomgående visade på något lägre Hb-värden vid järntilldelning via TorvoJärn Extra jämfört med vid tilldelning av järn via injektion. För små och medelstora grisar kunde dock ingen signifikant negativ effekt på tillväxten av detta påvisas. För kategorin ”stora grisar” registrerades däremot en tendens (p=0,098) till något sämre tillväxt från födelse till utflyttning ur tillväxtavdelningen då grisarna inte fick järninjektion.
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| 8. |
- Parker, James, 1980-, et al.
(författare)
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The Variability in Kinematics and Carry in a Longitudinal Intra-individual Study of Elite Golfers
- 2016
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Ingår i: Abstracts. ; , s. 47-48
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Konferensbidrag (refereegranskat)abstract
- Purpose: To hit further and with high accuracy is important for success in the long game in golf. Even for very accomplished golfers a certain degree of between shot variance is evident even when trying to consistently repeat a successful shot. The consistency is determined by the biomechanics of the golfer, which influences club head speed (CHS) and position, and initial ball launch conditions, which in combination with environmental factors determine shot outcome. Previous research has identified several biomechanical variables associated with variance in CHS, including thorax rotation speed and lead arm speed (LAS). Pilot data from our laboratory have indicated moderate non-significant relationship between CHS and carry in elite male golfers when studied over time. Thus, the aim of this study was to explore the relationship between peak speed of the pelvis, thorax, and lead upper arm and carry over time, investigating both within and between session variability in elite male golfers.Methods: Six elite male golfers (handicap range -3 to +0.5) (age range 21-23 years) were included in this study. The golfers were studied on four separate occasions over a year. Each test occasion included a golf specific warm-up of the golfers’ choice, then subjects were instructed to hit five balls with their driver and use the swing that was as ‘normal ‘as possible. Data on swing kinematics was collected using a four sensor electromagnetic motion capture system at 120Hz (Polhemus Inc. USA). Nine landmarks were digitized to define segment lengths, orientations and joint axes. CHS and carry were collected using a launch monitor (Trackman3e, v.3.2, Trackman, Denmark). The swing events were determined from sensors on the club; top of backswing was determined when the club changes direction from backswing to downswing. Impact was determined when the clubhead reaches the horizontal position equivalent to where it was at address. Angular velocities and displacements of the pelvis, thorax, and lead arm were calculated using standard biomechanics principles in conjunction with advanced motion measurement software (AMM 3D, USA). No data smoothing techniques were used before data analysis. IBM SPSS v.22 was used to analyse the data through hierarchical multilevel modelling (MLM). First a baseline model without predictors was run, then MLM was repeated with predictors where the first level of the data contained carry and kinematic data from each shot (within session level). At the second level, the carry scores were nested within sessions and analysed between sessions. Lastly, at the third level, the sessions were nested within players (between players). Carry was used as outcome variable and kinematics as predictor variables with a probability level of 0.05.Results: Initially MLM baseline model for carry only, was tested) without predictors. The results showed a statistical significant intercept (Estimate = 226.24, p<.001). Intraclass correlations (ICC) suggested that 32.5% of the variance in carry were present within sessions (level 1), whilst 38.0% were attributed to differences in carry between sessions (level 2). Results from the second MLM generated an improved model fit (-2 LL & BIC) where peak speeds of the pelvis, thorax, and lead upper arm were included as fixed effect covariates on level 1. The result showed that peak LAS was a statistically significant predictor of carry (β=.17, p=.001) whereas peek speed of neither thorax (β=-.04, p=.364) nor pelvis (β=.02, p=.673) had any statistically significant relationship with carry.Discussion: The present study found that 32.5% of variation in shot consistency can be explained at the within session level (influenced by for example variance in centeredness of impact), and 38% of variation in shot consistency can be explained at the between session level (influenced by for example environmental factors). Furthermore, LAS was the only significant predictor of within session variance in carry. Our results indicated peak LAS speed as a predictor of within session variance in carry and this is partly supported by previous research who found golfers with higher arm speed had higher ball velocity than golfers with lower arm speed(Healy et al., 2011). However, results from our pilot study differ from previous research which reports a relationship between peak thorax speed and driver performance. The difference could be due to our results being based on longitudinal data at intra-individual level, whereas previous studies have used a cross-sectional study design, different analysis methods and reported at an inter-individual level. In conclusion, our preliminary data show that within session LAS is a predictor of carry distance when the objective is shot consistency. Practitioners may consider training strategies to optimize arm speed when improve driving consistency among elite golfers. ReferencesHealy, A., Moran, K. A., Dickson, J., Hurley, C., Smeaton, A. F., O'Connor, N. E., . . . Chockalingam, N. (2011). Analysis of the 5 iron golf swing when hitting for maximum distance. Journal of sports sciences, 29(10), 1079-1088.
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| 9. |
- Rahmati, Kobra, et al.
(författare)
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A comparison of serum and EDTA plasma in the measurement of glutamic acid decarboxylase autoantibodies (GADA) and autoantibodies to islet antigen-2 (IA-2A) using the RSR radioimmunoassay (RIA) and enzyme linked immunosorbent assay (ELISA) kits.
- 2008
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Ingår i: Clinical Laboratory. - 1433-6510. ; 54:7-8, s. 227-235
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Glutamic acid decarboxylase antibodies (GADA) and tyrosine phosphatase antibodies (islet antigen-2 antibodies; IA-2A) are used in clinical practise to identify type 1 diabetes. METHODS: GADA and IA-2A were measured with RSR-ELISA kits in samples from 76 newly diagnosed type 1 diabetic children and 120 healthy controls. The aim was to evaluate performance of RSR-ELISA kits for GADA and IA-2A when serum and Ca2+ treated plasma were used. RESULTS: GADA achieved high area under the curve (AUC) both for serum 0.95 (95% CI 0.90-0.99) and for Ca2+ treated plasma 0.95 (95% CI 0.91-0.99). At specificity 98%, sensitivity was 84% for serum and 87% for Ca2+ treated plasma. IA-2A achieved AUC 0.92 (95% CI 0.87-0.97) for serum and 0.94 (95% CI 0.90-0.98) for Ca2+ treated plasma. Using the lowest standard (15 WHO-Units/ml) as cut-off, specificity for serum was 100% and for Ca2+ treated plasma 99% with sensitivity 74% in both cases. Sensitivity was higher in ELISA compared to RIA (74%; p = 0.0080) for GADA measurement and similar for ELISA and RIA IA-2A measurements (76%; p = 0.50). CONCLUSION: Both RSR-ELISAs, GADA and IA-2A showed excellent performance for serum as well as for Ca2+ treated plasma.
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