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| 2. |
- Laine, Christine M., et al.
(författare)
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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- 2013
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 368:19, s. 1809-1816
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Tidskriftsartikel (refereegranskat)abstract
- This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T -> G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C -> A, p.Ser295(star). In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.
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| 3. |
- Huhtanen, JT, et al.
(författare)
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Deep learning accurately classifies elbow joint effusion in adult and pediatric radiographs
- 2022
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12:1, s. 11803-
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Tidskriftsartikel (refereegranskat)abstract
- Joint effusion due to elbow fractures are common among adults and children. Radiography is the most commonly used imaging procedure to diagnose elbow injuries. The purpose of the study was to investigate the diagnostic accuracy of deep convolutional neural network algorithms in joint effusion classification in pediatric and adult elbow radiographs. This retrospective study consisted of a total of 4423 radiographs in a 3-year period from 2017 to 2020. Data was randomly separated into training (n = 2672), validation (n = 892) and test set (n = 859). Two models using VGG16 as the base architecture were trained with either only lateral projection or with four projections (AP, LAT and Obliques). Three radiologists evaluated joint effusion separately on the test set. Accuracy, precision, recall, specificity, F1 measure, Cohen’s kappa, and two-sided 95% confidence intervals were calculated. Mean patient age was 34.4 years (1–98) and 47% were male patients. Trained deep learning framework showed an AUC of 0.951 (95% CI 0.946–0.955) and 0.906 (95% CI 0.89–0.91) for the lateral and four projection elbow joint images in the test set, respectively. Adult and pediatric patient groups separately showed an AUC of 0.966 and 0.924, respectively. Radiologists showed an average accuracy, sensitivity, specificity, precision, F1 score, and AUC of 92.8%, 91.7%, 93.6%, 91.07%, 91.4%, and 92.6%. There were no statistically significant differences between AUC's of the deep learning model and the radiologists (p value > 0.05). The model on the lateral dataset resulted in higher AUC compared to the model with four projection datasets. Using deep learning it is possible to achieve expert level diagnostic accuracy in elbow joint effusion classification in pediatric and adult radiographs. Deep learning used in this study can classify joint effusion in radiographs and can be used in image interpretation as an aid for radiologists.
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| 4. |
- Pihlstrom, S, et al.
(författare)
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A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells
- 2022
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Ingår i: Frontiers in molecular biosciences. - : Frontiers Media SA. - 2296-889X. ; 9, s. 1032026-
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Tidskriftsartikel (refereegranskat)abstract
- In this study, we developed an in vitro technique to transdifferentiate human dermal fibroblasts into osteoblast-like cells. Bone marrow-derived mesenchymal stem cells, the true progenitors of osteoblasts, were utilized as reference cell lines. We characterized the osteoblastic differentiation in the two cell types using transcriptomics and quantitative MS-based proteomics and phosphoproteomics. The osteoblastic-like phenotype was confirmed in both cell types by positive alkaline phosphatase and mineralization staining methods. In addition, both cell types showed altered gene and protein profiles in compliance with an osteoblastic differentiation.
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| 6. |
- Kelkka, T, et al.
(författare)
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Anti-COX-2 autoantibody is a novel biomarker of immune aplastic anemia
- 2022
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 36:9, s. 2317-2327
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Tidskriftsartikel (refereegranskat)abstract
- In immune aplastic anemia (IAA), severe pancytopenia results from the immune-mediated destruction of hematopoietic stem cells. Several autoantibodies have been reported, but no clinically applicable autoantibody tests are available for IAA. We screened autoantibodies using a microarray containing >9000 proteins and validated the findings in a large international cohort of IAA patients (n = 405) and controls (n = 815). We identified a novel autoantibody that binds to the C-terminal end of cyclooxygenase 2 (COX-2, aCOX-2 Ab). In total, 37% of all adult IAA patients tested positive for aCOX-2 Ab, while only 1.7% of the controls were aCOX-2 Ab positive. Sporadic non-IAA aCOX-2 Ab positive cases were observed among patients with related bone marrow failure diseases, multiple sclerosis, and type I diabetes, whereas no aCOX-2 Ab seropositivity was detected in the healthy controls, in patients with non-autoinflammatory diseases or rheumatoid arthritis. In IAA, anti-COX-2 Ab positivity correlated with age and the HLA-DRB1*15:01 genotype. 83% of the >40 years old IAA patients with HLA-DRB1*15:01 were anti-COX-2 Ab positive, indicating an excellent sensitivity in this group. aCOX-2 Ab positive IAA patients also presented lower platelet counts. Our results suggest that aCOX-2 Ab defines a distinct subgroup of IAA and may serve as a valuable disease biomarker.
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| 8. |
- Gowers, SG, et al.
(författare)
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Treatment aims and philosophy in the treatment of adolescent anorexia nervosa in Europe
- 2002
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Ingår i: European Eating Disorders Review. - : Wiley. - 1072-4133. ; 10:4, s. 271-280
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Tidskriftsartikel (refereegranskat)abstract
- This study describes the range of service provision and explores differences in treatment approaches and therapeutic aims, in the 12 countries participating in the European Union collaborative COST B6 Adolescent Project into the treatment of adolescent anorexia nervosa (AN). Following a number of group meetings, two questionnaires were administered, completed and returned by e-mail. The first questionnaire examined features of the services provided, including details of the numbers of patients seen, inpatient admission criteria and aspects of patient management. The second questionnaire contained a list Of 13 therapeutic aims, asking respondents to rank in order the six they considered most important in the first weeks of treatment. There was broad agreement between services concerning the need to offer a full spectrum of services in a range of settings. Nevertheless, there were significant differences in approaches, chiefly concerning the readiness to admit to hospital, the use of (individual or family) day units and the focus on weight restoration as opposed to therapeutic engagement. Copyright (C) 2002 John Wiley & Sons, Ltd and Eating Disorders Association.
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| 10. |
- Kanto, K, et al.
(författare)
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Minimal important difference and patient acceptable symptom state for pain, Constant-Murley score and Simple Shoulder Test in patients with subacromial pain syndrome
- 2021
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Ingår i: BMC medical research methodology. - : Springer Science and Business Media LLC. - 1471-2288. ; 21:1, s. 45-
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe results of clinical trials should be assessed for both statistical significance and importance of observed effects to patients. Minimal important difference (MID) is a threshold denoting a difference that is important to patients. Patient acceptable symptom state (PASS) is a threshold above which patients feel well.ObjectiveTo determine MID and PASS for common outcome instruments in patients with subacromial pain syndrome (SAPS).MethodsWe used data from the FIMPACT trial, a randomised controlled trial of treatment for SAPS that included 193 patients. The outcomes were shoulder pain at rest and on arm activity, both measured with the 0–100 mm visual analogue scale (VAS), the Constant-Murley score (CS), and the Simple Shoulder Test (SST). The transition question was a five-point global rating of change. We used three anchor-based methods to determine the MID for improvement: the receiver operating characteristic (ROC) curve, the mean difference of change and the mean change methods. For the PASS, we used the ROC and 75th percentile methods and calculated estimates using two different anchor question thresholds.ResultsDifferent MID methods yielded different estimates. The ROC method yielded the smallest estimates for MID: 20 mm for shoulder pain on arm activity, 10 points for CS and 1.5 points for SST, with good to excellent discrimination (areas under curve (AUCs) from 0.86 to 0.94). We could not establish a reliable MID for pain at rest. The PASS estimates were consistent between methods. The ROC method PASS thresholds using a conservative anchor question threshold were 2 mm for pain at rest, 9 mm for pain on activity, 80 points for CS and 11 points for SST, with AUCs from 0.74 to 0.83.ConclusionWe recommend the smallest estimate from different methods as the MID, because it is very unlikely that changes smaller than the smallest MID estimate are important to patients: 20 mm for pain VAS on arm activity, 10 points for CS and 1.5 points for SST. We recommend PASS estimates of 9 mm for pain on arm activity, 80 points for CS, and 11 points for SST.Trial registrationClinicalTrials.govNCT00428870 (first registered January 29, 2007).
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| 11. |
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| 12. |
- Toivonen, P, et al.
(författare)
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Cavum septum pellucidum and psychopathy
- 2013
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Ingår i: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 1472-1465. ; 203:2, s. 152-153
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Tidskriftsartikel (refereegranskat)abstract
- The presence of cavum septum pellucidum (CSP) has been reported to be a neurodevelopmental marker of psychopathy. We scanned 26 violent offenders and 25 controls; 2 offenders and 2 controls had CSP (8% in both groups). Thus, the presence of CSP is not a common or a unique feature of antisocial personality disorder or psychopathy.
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