| 1. |
- Christesen, Henrik Thybo, et al.
(författare)
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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
- 2020
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 63:1
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Tidskriftsartikel (refereegranskat)abstract
- Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronounced proliferation of endocrine cells comprising >70% of the pancreatic tissue and a small pancreatoblastoma. Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. At two years’ age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an adrenal tumour were resected. pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. Quantitative fluorescent PCR with amplification of chromosome-specific DNA sequences for chromosomes 13, 18, 21 and X indicated GW-pUPD. A next generation sequencing panel with 303 SNPs on 21 chromosomes showed pUPD in both blood and pancreatic tissue. The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. MLID features included transient conjugated hyperbilirubinaemia and lack of macrosomia from BWS (pUPD6); and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. In conclusion, atypical pancreatic histology in apparently non-syndromic severe CHI patients may be the first clue to BWS and multi-syndromal CHI from GW-pUPD. Variations in the degree of mosaicism between tissues explained the phenotype.
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| 2. |
- Danielsson, Henrik, Professor, 1974-
(författare)
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Randomiserade kontrollerade studier av interventionsprogram för elever med tidiga läs- och matematiksvårigheter
- 2023
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Ingår i: Resultatdialog 2023. - : Vetenskapsrådet. - 9789189845107 ; , s. 15-18
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Forskningens syfte var att utveckla och utvärdera två interventioner för elever med tidiga lässvårigheter eller tidiga mattesvårigheter. Resultaten visade att bägge interventionerna hade en medelstor till stor effekt på förbättring för interventionsgrupperna direkt efter interventionerna. Ett år efter interventionerna hade de flesta av de positiva effekterna minskat till ungefär hälften.
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| 3. |
- Lindström-Sandahl, Hanna, 1979-, et al.
(författare)
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A randomized controlled study of a second grade numeracy intervention with Swedish students at‐risk of mathematics difficulties
- 2024
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Ingår i: British Journal of Educational Psychology. - : Wiley. - 0007-0998 .- 2044-8279.
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Tidskriftsartikel (refereegranskat)abstract
- Background: Early numeracy interventions including basicarithmetic are crucial for young students at risk for earlymathematics difficulties (MDs), yet few studies have evalu-ated numeracy interventions in second grade with a rand-omized controlled design.Aim: This pre- and post-test randomized controlled studyevaluated the effects of an intensive 9-week numeracy andarithmetic programme for second-grade students at risk forearly MDs. The focus of the programme was students’ foun-dational understanding of numbers and mathematical con-cepts and procedural fluency with arithmetic tasks.Sample: A total of 753 first-grade students from 21 schoolsin Sweden were screened for low achievement in numberknowledge and arithmetic.Methods: Students considered at risk for MDs (≤25 per-centile on two consecutive first-grade mathematics screen-ings) were individually randomized to an intervention group(n = 32) or control group (n = 30) at the beginning of secondgrade (7–8 years old). Trained teachers administered theone-to-one, explicit programme to intervention group stu-dents in elementary school settings. The intervention groupreceived numeracy instruction emphasizing foundationalmathematics concepts and procedures. Controls receivedteaching as usual with potential special education supportprovided by their schools.Results: The intervention group demonstrated significantlygreater improvements in conceptual knowledge, arithmeticcalculations and problem-solving compared to the controlgroup, with medium size effects observed.
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| 4. |
- Lindström-Sandahl, Hanna, 1979-
(författare)
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Early Elementary School Interventions in Reading and Mathematics
- 2024
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Supplemental special education support in reading and mathematics is essential for some children who struggle to learn basic reading or mathematics skills in their first years of schooling. Previous research shows that supplemental phonics and early numeracy and arithmetic instruction help students at risk for reading or mathematics difficulties. Few intervention studies have been conducted in the Swedish elementary school context evaluating the effectiveness of early reading and mathematics instruction, limiting evidence-based practices guiding special education in Sweden. This thesis aimed to develop and test the impact of two intensive instructional programs on word reading and reading comprehension skills and number knowledge, arithmetic and problem solving. Transfer-effects of training across the reading and mathematics domains and the long-term impact of the programs were also investigated. The study enrolled 753 first grade students who were screened for low performance (≤25th percentile) in decoding, spelling, number knowledge and arithmetic. To evaluate how the impact of the interventions differ from regular school instruction, students were randomized to intervention and control groups and pre-tested with extended assessment of reading and mathematics skills (n=32 vs. 30 in mathematics, n=34 vs. 34 in reading). Both interventions were implemented at the start of second grade. The intervention programs spanned 36 lessons of supplemental explicit, one-to-one instruction with a special education teacher. Control group students received support planned by their schools. The results were evaluated at post-test and followed-up after 1 year. Both programs indicated significant intervention effects at post-test compared with controls with the reading intervention showing medium impact on decoding and reading comprehension and a strong effect on word recognition. The mathematics intervention program displayed significant moderate impact on number knowledge, arithmetic and basic problem solving. For both interventions, these effects declined at follow-up one year later. In addition, no transfer across reading and mathematics interventions were found. A main conclusion drawn from these randomized controlled studies is that students’ performance in basic reading and mathematics can be substantially accelerated by a time-limited and intense effort, adding to the evidence-base of explicit phonics and early numeracy and arithmetic intervention as recommended practices also in a Swedish school context. As many previous studies have shown, intervention gains tend to fade over time. The longevity of intensive intervention impacts should be considered in post-intervention efforts to support learning. Alignment between supplemental programs and general classroom instruction is suggested.
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| 5. |
- Andreasson, M., et al.
(författare)
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Parkinson's disease with restless legs syndrome-an in vivo corneal confocal microscopy study
- 2021
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Ingår i: npj Parkinson's Disease. - : Springer Science and Business Media LLC. - 2373-8057. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Small fiber neuropathy (SFN) has been suggested as a trigger of restless legs syndrome (RLS). An increased prevalence of peripheral neuropathy has been demonstrated in Parkinson's disease (PD). We aimed to investigate, in a cross-sectional manner, whether SFN is overrepresented in PD patients with concurrent RLS relative to PD patients without RLS, using in vivo corneal confocal microscopy (IVCCM) and quantitative sensory testing (QST) as part of small fiber assessment. Study participants comprised of age- and sex-matched PD patients with (n = 21) and without RLS (n = 21), and controls (n = 13). Diagnosis of RLS was consolidated with the sensory suggested immobilization test. Assessments included nerve conduction studies (NCS), Utah Early Neuropathy Scale (UENS), QST, and IVCCM, with automated determination of corneal nerve fiber length (CNFL) and branch density (CNBD) from wide-area mosaics of the subbasal nerve plexus. Plasma neurofilament light (p-NfL) was determined as a measure of axonal degeneration. No significant differences were found between groups when comparing CNFL (p = 0.81), CNBD (p = 0.92), NCS (p = 0.82), and QST (minimum p = 0.54). UENS scores, however, differed significantly (p = 0.001), with post-hoc pairwise testing revealing higher scores in both PD groups relative to controls (p = 0.018 and p = 0.001). Analysis of all PD patients (n = 42) revealed a correlation between the duration of l-dopa therapy and CNBD (rho = -0.36, p = 0.022), and p-NfL correlated with UENS (rho = 0.35, p = 0.026) and NCS (rho = -0.51, p = 0.001). Small and large fiber neuropathy do not appear to be associated with RLS in PD. Whether peripheral small and/or large fiber pathology associates with central neurodegeneration in PD merits further longitudinal studies.
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| 6. |
- Bernardo, Ricardo, et al.
(författare)
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Combined solar and membrane drying technologies for sustainable fruit preservation in low-income countries – prototype development, modelling, and testing
- 2021
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Ingår i: Solar Energy Advances. - : Elsevier BV. - 2667-1131. ; 1
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Tidskriftsartikel (refereegranskat)abstract
- This investigation consisted of developing and evaluating solar dryers together with semi-permeable membrane pouches for drying juicy fruits in low-income tropical countries. Two design iterations were carried out including prototype modelling and testing. The latest developed solar dryers were a passive and an active solar dryer. Modelling was initially carried out mathematically using an equation solver software followed by computational fluid dynamics. Preliminary measurements were carried out on a small-scale solar dryer. Thereafter, full-scale models were developed and tested, both in laboratory and in real conditions in Mozambique. Results from modelling were validated against measurements in laboratory in Sweden and field trials in Mozambique. Prototype building and testing in Mozambique was undertaken in collaboration with local farmers and a university. Measurement results show that the dryers help to prevent microbial growth through increased temperatures. The drying flux was increased by 50% for the passive, and by 100% for the active solar dryers compared to the ambient controls that did not use a solar dryer. The total drying time was below four days for all pouches in the dryers. The active solar dryer was shown to have the shortest drying time and the highest capacity (more pouches) but also the highest costs. Mould growth and juice fermentation were observed on control pouches drying in open air. These problems were solved with the use of solar dryer technology. However, some challenges with the membrane pouches require further development including degradation of the membrane when exposed to direct sunlight.
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| 7. |
- Blomgren, Emma M.V., et al.
(författare)
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Intensive Data-Driven Model for Real-Time Observability in Low-Voltage Radial DSO Grids
- 2023
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Ingår i: Energies. - 1996-1073. ; 16:11
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Tidskriftsartikel (refereegranskat)abstract
- Increasing levels of distributed generation (DG), as well as changes in electricity consumption behavior, are reshaping power distribution systems. These changes might place particular stress on the secondary low-voltage (LV) distribution systems not originally designed for bi-directional power flows. Voltage violations, reverse power flow, and congestion are the main arising concerns for distribution system operators (DSOs), while observability in these grids is typically nonexistent or very low. The present paper addresses this issue by developing a method for nodal voltage estimation in unbalanced radial LV grids (at 0.4 kV). The workflow of the proposed method combines a data-driven grey-box modeling approach with generalized additive models (GAMs). Furthermore, the proposed method relies on experimental data from a real-world LV grid in Denmark and uses data input from only one measuring device per feeder. Predictions are evaluated by using a test data set of 31 days, which is more than twice the size of the training data set of 13 days. The prediction results show high accuracy at root mean squared errors (RMSEs) of 0.002–0.0004 p.u. The method also requires a short computation time (14 s for the first stage and 2 s for the second stage) that meets requirements for the practical, real-time monitoring of DSO grids.
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| 8. |
- Carlsson, Leo, 1992-
(författare)
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Applied Machine Learning in Steel Process Engineering : Using Supervised Machine Learning Models to Predict the Electrical Energy Consumption of Electric Arc Furnaces
- 2021
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The steel industry is in constant need of improving its production processes. This is partly due to increasing competition and partly due to environmental concerns. One commonly used method for improving these processes is through the act of modeling. Models are representations of the reality that can be used to study and test new processes and strategies without costly interventions. In recent years, Machine Learning (ML) has emerged as a promising modeling approach for the steel industry. This has partly been driven by the Industry 4.0 development, which highlights ML as one of the key technologies for its realization. However, these models are often difficult to interpret, which makes it impractical to validate if the model accurately represents reality. This can lead to a lack of trust in ML models by domain practitioners in the steel industry. Thus, the present work investigates the practical usefulness of ML models in the context steel process engineering. The chosen application to answer this research question is the prediction of the Electrical Energy (EE) consumption of Electric Arc Furnaces (EAF). The EAF process was chosen due to its widespread use in the steel industry and due to the difficulty to accurately model the EE consumption using physical modeling. In the present literature, the use of linear statistical models are commonly used even though the EE consumption is non-linearly dependant on multiple important EAF process variables. In addition, the literature does neither investigate the correlations between input variables nor attempts to find the most optimal model with respect to model complexity, predictive performance, stability, and generalizability. Furthermore, a consistent reporting of predictive performance metrics and interpreting the non-transparent models is lacking. These shortcomings motivated the development of a Model Construction methodology and a Model Evaluation methodology that eliminate these shortcomings by considering both the domain-specific (metallurgical) aspects as well as the challenges imposed by ML modeling. By using the developed methodologies, several important findings originated from the resulting ML models predicting the EE consumption of two disparate EAF. A high model complexity, governed by an elevated number of input variables and model coefficients, is not necessary to achieve a state-of-the-art predictive performance on test data. This was confirmed both by the extensive number of produced models and by the comparison of the selected models with the models reported in the literature. To improve the predictive performance of the models, the main focus should instead be on data quality improvements. Experts in both process metallurgy and the specific process under study must be utilized when developing practically useful ML models. They support both in the selection of input variables and in the evaluation of the contribution of the input variables on the EE consumption prediction in relation to established physico-chemical laws and experiences with the specific EAF under study. In addition, a data cleaning strategy performed by an expert at one of the two EAF resulted in the best performing model. The scrap melting process in the EAF is complex and therefore challenging to accurately model using physico-chemical modeling. Using ML modeling, it was demonstrated that a scrap categorization based on the surface-area-to-volume ratio of scrap produced ML models with the highest predictive performance. This agrees well with the physico-chemical phenomena that governs the melting of scrap; temperature gradients, alloying gradients, stirring velocity, and the freezing effect. Multiple different practical use cases of ML models were exemplified in the present work, since the model evaluation methodology demonstrated the possibility to reveal the true contributions by each input variable on the EE consumption. The most prominent example was the analysis of the contribution by various scrap categories on the EE consumption. Three of these scrap categories were confirmed by the steel plant engineers to be accurately interpreted by the model. However, to be able to draw specific conclusions, a higher model predictive performance is required. This can only be realized after significant data quality improvements. Lastly, the developed methodology is not limited to the case used in the present work. It can be used to develop supervised ML models for other processes in the steel industry. This is valuable for the steel industry moving forward in the Industry 4.0 development.
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| 9. |
- Forshamn, Henrik, 1968-
(författare)
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Tänka fritt är stort men tänka rätt är större Prolog : En självkritisk studie av juridisk metod i mötet med i tid och rum främmande juridik, med avseende på den rätta och den fria tankens vetenskapliga förutsättningar
- 2023
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Denna avhandling utgör ett rättsvetenskapligt bidrag till historievetenskapens källkritik. Det handlar om att sätta fokus på vad som händer med förståelsen av det förflutna, när historieskrivningen hamnar i händerna på juristen och dennes juridiska metod, med andra ord, när en av dessa självskolade historiker, juristen, lämnar en avgränsad juridik för att ta sig an en i tiden, eller rummet, främmande juridik, som juristen rent faktiskt inte har studerat, i egenskap av just i tiden, och rummet, främmande, och, som man har anledning att misstänka, läses med ögon, inskolade i en av tid och rum avgränsad, och därmed betingad, juridik. Därmed aktualiseras ett juridiskt korrekt förvridningsmoment, vilket på ett principiellt plan måste ske utan hänsyn till den berörda ickejuridiska kunskapsarten, exempelvis historievetenskapen. En sådan historieskrivning väcker självklara frågor om tendens, men inte hos källan, utan hos juristen, i egenskap av självskolad historiker. När den skolade historikern därför har att förhålla sig källkritiskt till den historiskt självskolade historikerns juridiska historieskrivning, saknar han ofta källkritiskt språk för detta. Avhandlingen föreslår bruket av ordet självkritik, för att sätta namn på tendenskritiken av den oskolade och självutnämnde historikern. Det är i detta avseende, som avhandlingen utgör ett bidrag till historievetenskapens källkritik. Det rättsvetenskapliga bidraget till historievetenskapens källkritik förmedlar även en förståelse av relationen mellan juridisk och humanistisk kunskap. Den fråga som avhandlingen har måst ställa sig är, i vad mån rättshistoria kan sägas utgöra en enhetlig disciplin, givet de instanser som de facto företräds av dagens rättshistoriker. Den skillnad som utåt sett anmäler sig mellan historikerns och juristens rättshistoria måste därmed granskas, för att utröna i vad mån, om alls, det föreligger förutsättningar för ett meningsfullt vetenskapligt samtal dem emellan. Avhandlingen föreslår att juridisk och historisk rättshistoria, utåt sett sammanförda inom ämnet rättshistoria, utgår från skilda vetenskapssyner, metoder och källkritiker, varför de bör betraktas som skilda kunskapsarter samt utgåendes skilda vetenskapliga grunder.
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| 10. |
- Guné, Henrik, et al.
(författare)
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Impact of ABO blood group on bleeding complications after surgery for acute type A aortic dissection
- 2021
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Ingår i: Blood Coagulation and Fibrinolysis. - 1473-5733. ; 32:4, s. 253-258
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Tidskriftsartikel (refereegranskat)abstract
- Excessive bleeding is a serious complication associated with impaired survival after surgery for acute type A aortic dissection (ATAAD). Different ABO blood groups are associated with variable levels of circulating von Willebrand factor and therefore potentially altered risks of surgical haemorrhage. The current study aimed to assess the impact of blood group on bleeding complications after ATAAD surgery. This was a retrospective cohort study including 336 patients surgically treated for ATAAD between January 2004 and January 2019. Patients with blood group O were compared with non-O patients. In total, 152 blood group O patients were compared with 184 non-O patients. There were no differences in rates of massive bleeding (27.0 vs. 25.5%, P = 0.767) or re-exploration for bleeding (16.4 vs. 13.0%, P = 0.379) in blood group O and non-O patients, respectively. Median chest tube output 12 h after surgery was 520 ml (350-815 ml) in blood group O and 490 ml (278-703 ml) in non-O patients (P = 0.229). Blood group O patients received more fibrinogen concentrate (6.1 ± 4.0 vs. 4.9 ± 3.3 g, P = 0.023) but administered units of packed red blood cells [5 (2-8) vs. 4 (2-9) U, P = 0.736], platelets [4 (2-4) vs. 3 (2-5) U, P = 0.521] or plasma [4 (1-7) vs. 4 (0-7) U, P = 0.562] were similar. This study could not demonstrate any association between blood group and bleeding after surgery for ATAAD. It cannot be ruled out that potential differences were levelled out by blood group O patients receiving significantly more fibrinogen concentrate.
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