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- Bouakaze, Caroline, et al.
(author)
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Predicting haplogroups using a versatile machine learning program (PredYMaLe) on a new mutationally balanced 32 Y-STR multiplex (CombYplex) : Unlocking the full potential of the human STR mutation rate spectrum to estimate forensic parameters
- 2020
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In: Forensic Science International. - : Elsevier BV. - 1872-4973 .- 1878-0326. ; 48
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Journal article (peer-reviewed)abstract
- We developed a new mutationally well-balanced 32 Y-STR multiplex (CombYplex) together with a machine learning (ML) program PredYMaLe to assess the impact of STR mutability on haplogourp prediction, while respecting forensic community criteria (high DC/HD). We designed CombYplex around two sub-panels M1 and M2 characterized by average and high-mutation STR panels. Using these two sub-panels, we tested how our program PredYmale reacts to mutability when considering basal branches and, moving down, terminal branches. We tested first the discrimination capacity of CombYplex on 996 human samples using various forensic and statistical parameters and showed that its resolution is sufficient to separate haplogroup classes. In parallel, PredYMaLe was designed and used to test whether a ML approach can predict haplogroup classes from Y-STR profiles. Applied to our kit, SVM and Random Forest classifiers perform very well (average 97 %), better than Neural Network (average 91 %) and Bayesian methods (< 90 %). We observe heterogeneity in haplogroup assignation accuracy among classes, with most haplogroups having high prediction scores (99-100 %) and two (E1b1b and G) having lower scores (67 %). The small sample sizes of these classes explain the high tendency to misclassify the Y-profiles of these haplogroups; results were measurably improved as soon as more training data were added. We provide evidence that our ML approach is a robust method to accurately predict haplogroups when it is combined with a sufficient number of markers, well-balanced mutation rate Y-STR panels, and large ML training sets. Further research on confounding factors (such as CNV-STR or gene conversion) and ideal STR panels in regard to the branches analysed can be developed to help classifiers further optimize prediction scores.
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| 3. |
- Smith, Ruben, et al.
(author)
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Increased basal ganglia binding of 18F-AV-1451 in patients with progressive supranuclear palsy
- 2017
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In: Movement Disorders. - : Wiley. - 0885-3185. ; 32:1, s. 108-114
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Journal article (peer-reviewed)abstract
- Background: Progressive supranuclear palsy (PSP) is difficult to diagnose accurately. The recently developed tau PET tracers may improve the diagnostic work-up of PSP. Methods: Regional tau accumulation was studied using 18F-AV-1451 PET in 11 patients with PSP and 11 age-matched healthy controls in the Swedish BioFinder study. Results: 18F-AV-1451 standard uptake volume ratios were significantly higher in the basal ganglia in PSP patients when compared with controls (globus pallidus 1.75 vs 1.50; putamen 1.51 vs 1.35). Retention in the basal ganglia was correlated with age in both groups (r=.43-.78, P<.05). In PSP, we observed a significant correlation between clinical deterioration measured with the PSP rating scale and standard uptake volume ratios in the globus pallidus (r=.74, P<.05). However, no 18F-AV-1451 retention was observed in the cerebral cortex or white matter of either PSP patients or controls, and autoradiography did not reveal any specific binding of AV-1451 to PSP tau aggregates. Conclusion: We found higher 18F-AV-1451 retention in the basal ganglia of PSP patients when compared with healthy elderly controls, but also increases with age in both controls and patients. As a result of the overlap in retention between diagnostic groups and the age-dependent increase present also in controls, 18F-AV-1451 PET might not reliably distinguish individual patients with PSP from controls. However, further studies are needed to evaluate whether 18F-AV-1451 PET might be useful as a progression marker in clinical PSP trials.
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| 4. |
- Brusman, Mats, 1966-
(author)
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Den verkliga staden? : Norrköpings innerstad mellan urbana idéer och lokala identiteter
- 2008
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Doctoral thesis (other academic/artistic)abstract
- This dissertation studies how city planning is affected by notions on urbanity and ideas of the value of local places. Empirically, the dissertation deals with the development of the city of Norrköping in the 1990’s and the early 2000’s. The physical urban environment is formed with influences from general ideas of what a city is and should be, but also out of conceptions of the unique local place. The local history is an important factor for understanding the possibilities and obstacles in contemporary city planning. Theoretically, the dissertation is inspired by geographic, historical and sociological perspectives on space and time. Henri Lefebvre’s spatial triad is a central reference. The dissertation focus on three places in the city of Norrköping; Söder Tull, Skvallertorget and Nya Torget. Through a broad archival material and interviews with planners, politicians and other actors, the development of the places in 1990-2005 is analyzed in the light of urban development in Norrköping in the industrial and post-industrial eras.
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- de-Wahl Granelli, Anne, 1970, et al.
(author)
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Screening for duct-dependant congenital heart disease with pulse oximetry: a critical evaluation of strategies to maximize sensitivity
- 2005
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In: Acta Paediatr. - 0803-5253. ; 94:11, s. 1590-1596
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Journal article (peer-reviewed)abstract
- AIM: To evaluate the feasibility of detecting duct-dependent congenital heart disease before hospital discharge by using pulse oximetry. DESIGN: Case-control study. SETTING: A supra-regional referral centre for paediatric cardiac surgery in Sweden. PATIENTS: 200 normal term newborns with echocardiographically normal hearts (median age 1.0 d) and 66 infants with critical congenital heart disease (CCHD; median age 3 d). METHODS: Pulse oximetry was performed in the right hand and one foot using a new-generation pulse oximeter (NGoxi) and a conventional-technology oximeter (CToxi). RESULTS: With the NGoxi, normal newborns showed a median postductal saturation of 99% (range 94-100%); intra-observer variability showed a mean difference of 0% (SD 1.3%), and inter-observer variability was 0% (SD 1.5%). The CToxi recorded a significantly greater proportion of postductal values below 95% (41% vs 1%) in the normal newborns compared with NGoxi (p<0.0001). The CCHD group showed a median postductal saturation of 90% (45-99%) with the NGoxi. Analysis of distributions suggested a screening cut-off of <95%; however, this still gave 7/66 false-negative patients, all with aortic arch obstruction. Best sensitivity was obtained by adding one further criterion: saturation of <95% in both hand and foot or a difference of >+/-3% between hand and foot. These combined criteria gave a sensitivity of 98.5%, specificity of 96.0%, positive predictive value of 89.0% and negative predictive value of 99.5%. CONCLUSION: Systematic screening for CCHD with high accuracy requires a new-generation oximeter, and comparison of saturation values from the right hand and one foot substantially improves the detection of CCHD.
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| 6. |
- Smeds, Emilia
(author)
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Citizen Epistemologies as the Driver of Public Plaza Equity in New York City
- 2023
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In: Planning Theory & Practice. - 1464-9357 .- 1470-000X. ; 24:5, s. 703-708
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Journal article (peer-reviewed)abstract
- Inequitable access to open public space has been debated for decades in New York City, as a high-density context where much of the city’s land surface is taken up by streets dominated by motor vehicles. In 2008, a new era in the city’s public space provision began with the launch of the NYC Department of Transportation’s Plaza Program, focused on the creation of new pedestrian plazas fashioned from street space formerly dedicated to traffic. By 2017, the Program had expanded from one to over 70 plazas city-wide and continues to operate using a ‘tactical urbanism’ approach with temporary materials like paint and planters. Drawing on fieldwork conducted in 2019 (Smeds, Citation2021), this essay describes how citizens’ epistemologies surrounding Diversity Plaza in the Jackson Heights neighbourhood became a key driver for the reform of NYC’s Plaza Program towards greater public space equity. Based on this case, I argue that citizens’ struggles for epistemic justice can pave the way for realising greater distributive and procedural justice in transitions towards post-car cities.
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