| 1. |
- Kamstrup, P, et al.
(författare)
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Biomarkers of Clot Activation and Degradation and Risk of Future Major Cardiovascular Events in Acute Exacerbation of COPD: A Cohort Sub-Study in a Randomized Trial Population
- 2022
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Ingår i: Biomedicines. - : MDPI AG. - 2227-9059. ; 10:8
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Tidskriftsartikel (refereegranskat)abstract
- Cardiovascular diseases are common in patients with chronic obstructive pulmonary disease (COPD). Clot formation and resolution secondary to systemic inflammation may be a part of the explanation. The aim was to determine whether biomarkers of clot formation (products of von Willebrand Factor formation and activation) and clot resolution (product of fibrin degeneration) during COPD exacerbation predicted major cardiovascular events (MACE). The cohort was based on clinical data and biobank plasma samples from a trial including patients admitted with an acute exacerbation of COPD (CORTICO-COP). Neo-epitope biomarkers of formation and the activation of von Willebrand factor (VWF-N and V-WFA, respectively) and cross-linked fibrin degradation (X-FIB) were assessed using ELISAs in EDTA plasma at the time of acute admission, and analyzed for time-to-first MACE within 36 months, using multivariable Cox proportional hazards models. In total, 299/318 participants had samples available for analysis. The risk of MACE for patients in the upper quartile of each biomarker versus the lower quartile was: X-FIB: HR 0.98 (95% CI 0.65–1.48), VWF-N: HR 1.56 (95% CI 1.07–2.27), and VWF-A: HR 0.78 (95% CI 0.52–1.16). Thus, in COPD patients with an acute exacerbation, VWF-N was associated with future MACE and warrants further studies in a larger population.
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| 2. |
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| 3. |
- Abbasloo, A., et al.
(författare)
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Interactive formation of statistical hypotheses in diffusion tensor imaging
- 2019
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Ingår i: Eurographics Workshop on Visual Computing for Biology and Medicine, VCBM 2019. - 9783038680819 ; , s. 33-43
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Konferensbidrag (refereegranskat)abstract
- When Diffusion Tensor Imaging (DTI) is used in clinical studies, statistical hypothesis testing is the standard approach to establish significant differences between groups, such as patients and healthy controls. However, diffusion tensors contain six degrees of freedom, and the most commonly used univariate tests reduce them to a single scalar, such as Fractional Anisotropy. Multivariate tests that account for the full tensor information have been developed, but have not been widely adopted in practice. Based on analyzing the limitations of existing univariate and multivariate tests, we argue that it is beneficial to use a more flexible, steerable test. Therefore, we introduce a test that can be customized to include any subset of tensor attributes that are relevant to the analysis task at hand. We also present a visual analytics system that supports the exploratory task of customizing it to a specific scenario. Our system closely integrates quantitative analysis with suitable visualizations. It links spatial and abstract views to reveal clusters of strong differences, to relate them to the affected anatomical structures, and to visually compare the results of different tests. A use case is presented in which our system leads to the formation of several new hypotheses about the effects of systemic lupus erythematosus on water diffusion in the brain.
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| 4. |
- Gialluisi, A, et al.
(författare)
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
- 2019
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 77-
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Tidskriftsartikel (refereegranskat)abstract
- Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.
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| 5. |
- Gialluisi, A, et al.
(författare)
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Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
- 2021
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Ingår i: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 26:7, s. 3004-3017
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Tidskriftsartikel (refereegranskat)abstract
- Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10−6) enrichment of associations at the gene level, forLOC388780(20p13; uncharacterized gene), and forVEPH1(3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (atpT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase;p = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63];p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45];p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30];p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96];p = 5 × 10−4), educational attainment (0.86[0.82; 0.91];p = 2 × 10−7), and intelligence (0.72[0.68; 0.76];p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.
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| 8. |
- Schriever, T, et al.
(författare)
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Residual flexion deformity after scaphoid nonunion surgery: 7-year follow-up study
- 2023
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Ingår i: The Journal of hand surgery, European volume. - : SAGE Publications. - 2043-6289. ; 48:1, s. 20-26
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Tidskriftsartikel (refereegranskat)abstract
- The clinical implication of a residual flexion deformity following surgery for scaphoid nonunion is unclear. Sixty-three patients who underwent scaphoid nonunion surgery were assessed after a mean of 7 years (range 5–10) to analyse the outcomes based on the presence of residual scaphoid deformity. Primary outcome was Disabilities of the Arm, Shoulder and Hand score. Secondary outcomes were Patient-Rated Wrist Evaluation score, wrist range of motion and strength. Patients were dichotomized to residual deformity or no deformity. Scaphoid deformity was calculated from CT scans based on the median difference between the height–length ratio of the operated versus the uninjured scaphoid. There were no differences between residual deformity ( n = 33) and no deformity ( n = 30) in any outcome variables, except for wrist extension which was slightly worse in the deformity group. The deformity group had a greater number of radiographic osteoarthritis, but all cases were mild, and osteoarthritis did not correlate to a worse outcome. We conclude that residual scaphoid deformity has no relevant negative impact on mid-term wrist function. Level of evidence: IV
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