| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
- Khatri, C, et al.
(författare)
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Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
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Tidskriftsartikel (refereegranskat)abstract
- Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
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| 6. |
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| 7. |
- Boen, Rune, et al.
(författare)
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Beyond the global brain differences : intraindividual variability differences in 1q21.1 distal and 15q11.2 bp1-bp2 deletion carriers
- 2024
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Ingår i: Biological Psychiatry. - 0006-3223 .- 1873-2402. ; 95:2, s. 147-160
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Tidskriftsartikel (refereegranskat)abstract
- Background: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.Methods: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.Results: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.Conclusions: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.
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| 8. |
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| 9. |
- Nunes, A, et al.
(författare)
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Using structural MRI to identify bipolar disorders - 13 site machine learning study in 3020 individuals from the ENIGMA Bipolar Disorders Working Group
- 2020
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Ingår i: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 25:9, s. 2130-2143
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Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorders (BDs) are among the leading causes of morbidity and disability. Objective biological markers, such as those based on brain imaging, could aid in clinical management of BD. Machine learning (ML) brings neuroimaging analyses to individual subject level and may potentially allow for their diagnostic use. However, fair and optimal application of ML requires large, multi-site datasets. We applied ML (support vector machines) to MRI data (regional cortical thickness, surface area, subcortical volumes) from 853 BD and 2167 control participants from 13 cohorts in the ENIGMA consortium. We attempted to differentiate BD from control participants, investigated different data handling strategies and studied the neuroimaging/clinical features most important for classification. Individual site accuracies ranged from 45.23% to 81.07%. Aggregate subject-level analyses yielded the highest accuracy (65.23%, 95% CI = 63.47–67.00, ROC-AUC = 71.49%, 95% CI = 69.39–73.59), followed by leave-one-site-out cross-validation (accuracy = 58.67%, 95% CI = 56.70–60.63). Meta-analysis of individual site accuracies did not provide above chance results. There was substantial agreement between the regions that contributed to identification of BD participants in the best performing site and in the aggregate dataset (Cohen’s Kappa = 0.83, 95% CI = 0.829–0.831). Treatment with anticonvulsants and age were associated with greater odds of correct classification. Although short of the 80% clinically relevant accuracy threshold, the results are promising and provide a fair and realistic estimate of classification performance, which can be achieved in a large, ecologically valid, multi-site sample of BD participants based on regional neurostructural measures. Furthermore, the significant classification in different samples was based on plausible and similar neuroanatomical features. Future multi-site studies should move towards sharing of raw/voxelwise neuroimaging data.
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| 10. |
- Sonderby, Ida E., et al.
(författare)
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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
- 2020
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Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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| 11. |
- Sønderby, Ida E., et al.
(författare)
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
- 2021
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Ingår i: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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| 12. |
- van der Meer, Dennis, et al.
(författare)
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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
- 2020
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Ingår i: JAMA psychiatry. - : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 77:4, s. 420-430
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Tidskriftsartikel (refereegranskat)abstract
- Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019.Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks.Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.
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| 13. |
- Akselsson, Roland, et al.
(författare)
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Application of Proton Induced X-Ray Emission Analysis to the St. Louis Regional Air Pollution Study
- 1975
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Ingår i: Advances in X-Ray Analysis. ; 18, s. 588-597
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Tidskriftsartikel (refereegranskat)abstract
- The St Louis aerosol was sampled during the period 16-22 August 1973 simultaneously at two locations using cascade impactors for sequential 12-hour samples. The six particle size fractions of each sampling were individually analyzed using PIXE for elements from S to Br and beyond and for heavy elements including Pb which permitted time variations of concentrations and particle size distributions to be followed and related to meteorological changes during the sampling period. In addition, the data were compared with average levels of the elements in coastal north Florida and maritime Bermuda as well as at a third St. Louis site. From this it appeared that some of the concentrations in St. Louis were at natural levels whereas others appeared to be higher and linked to air pollution sources. These relationships and others in this study may lead to criteria for distinguishing between pollutants and natural background in urban aerosols.
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| 14. |
- Kaufmann, Henry C, et al.
(författare)
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Non-Linear Least Squares Analysis of Proton-Induced X-Ray Emission Data
- 1975
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Ingår i: Advances in X-Ray Analysis. - Boston, MA : Springer US. ; 18, s. 353-361
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Tidskriftsartikel (refereegranskat)abstract
- A Fortran program for analysis of spectra obtained in proton induced x-ray emission spectroscopy is under development. The first version is working and some results are shown. The program uses a model which describes the physics involved in the analysis. The continuum is described by an exponentially decreasing function representing secondary electron induced bremsstrahlung and a constant approximating different Compton scattering processes. Absorption effects are also included. All parameters in the model are fitted simultaneously. About 100 test runs have been made with good results. The continuum was accurately fitted for each spectrum. Other advantages are reliability, speed, and the fact that the program is easily adaptable to a small computer with 16K memory.
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| 15. |
- Kaufmann, Henry C, et al.
(författare)
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REX: A Computer Program for PIXE Spectrum Resolution of Aerosols
- 1976
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Ingår i: Advances in X-Ray Analysis. ; 19, s. 355-366
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Tidskriftsartikel (refereegranskat)abstract
- REX is a Fortran program for analysis of spectra obtained in PIXE analysis. The underlying model is still under development; however, one year of experience has demonstrated REX’s capability to be a fast reliable tool. The modeling of the different components and effects of the physical model is briefly discussed. Evidence is shown that secondary effects mostly due to Compton-scattering in and around the detector are important factors. In order to assure that heavy elements are recorded with sufficient sensitivity during short bombardment times, low energy X-rays are suppressed but not completely absorbed by use of a Mylar absorber with a hole. Such an absorber sometimes introduces severe problems for other techniques of spectrum analysis. However, to REX there is only the job to find the transmission curve of the absorber.
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| 16. |
- Kaufmann, Henry C., et al.
(författare)
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REX - A Computer Programme for PIXE Analysis
- 1977
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - 0167-5087. ; 142:1-2, s. 251-257
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Tidskriftsartikel (refereegranskat)abstract
- The implementation of a physics-based model for non-linear least-squares analysis of proton-induced X-ray emission spectra via a Fortran programme REX is discussed. The modelling of distinct spectral components and of the physical effects involved is briefly discussed. Results are presented in graphical and tabular form. The limitations of the present model are discussed and future refinements indicated.
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| 17. |
- Orsini, Celso Q, et al.
(författare)
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Variation of Elemental Composition with Particle Size in the St. Louis Aerosol
- 1977
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - 0167-5087. ; 142:1-2, s. 91-96
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Tidskriftsartikel (refereegranskat)abstract
- Detailed particle size distribution of elemental constituents have been determined in the St. Louis aerosol by sampling with cascade impactors for particles >0.25 μm aerodynamic diameter and by analyzing using proton-induced X-ray emission, PIXE, for S, Cl, K, Ca, Ti, Mn, Fe, Zn, Br, and Pb. Two rooftop sites were selected for intensive sampling in industrial and residential locations in St. Louis during February 1974, every 12 h for a 7 d period which included clear, rainy, and snowy weather regimes. The data could be compared with the results of a similar study of the St. Louis aerosol during August 1973 when the weather was generally warm and without rain. Both data sets could also be compared with results of studies of Tallahassee, situated in coastal north Florida, and the north Atlantic marine atmosphere of Bermuda. Although variation in elemental concentrations and their size distributions were observed which could be associated with local weather conditions during the February sampling period, the data set was sufficiently large for meaningful average characteristics to be computed. As examples, two elements of pollution importance, sulfur and iron, show the following comparison between St. Louis and the Florida and Atlantic locations: Sulfur in all data sets was most abundant in the smallest particle size classes. Winter and summer concentration in St. Louis air were the same within a factor of two but generally exceeded north Florida concentrations. Bermuda concentrations were intermediate between St. Louis and north Florida, except for largest particles where sea spray derived material was present. The results reflect the importance of gas phase conversion to particulate forms of sulfur, e.g. sulfate, in all three locations. Iron concentrations in St. Louis generally exceeded those in north Florida for smallest particles and to a lesser extent for larger sizes. Concentrations in Bermuda were about 10-fold lower than in St. Louis for all particle sizes. The results reflect the terrestrial dust origin of iron and also suggest that iron is partially pollution-derived in the St. Louis atmosphere, especially in smaller size ranges.
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| 18. |
- Winchester, John W, et al.
(författare)
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Trace Metals in the St. Louis Aerosol
- 1974
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Ingår i: Proceedings of the Second International Conference on Nuclear Methods in Environmental Research. ; , s. 385-394
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Konferensbidrag (refereegranskat)abstract
- The elemental composition of the St. Louis aerosol has been investigated at rooftop sites in south and central locations in the city as part of the August, 1973 field season of the Regional Air Pollution Study of the U.S. Environmental Protection Agency. Sampling by 5-stage cascade impactor with backup filter permits analysis by proton-induced x-ray emission (PIXE) of size fractions of aerodynamic diameter >4, >2m >1, >0.5, >0.25, <0.25µm for elements 16S to 35Br by K x-ray detection and 82Pb by L x-rays. The aerosol study indicates the following: 1. Particle size distributions of S, Cl, K, Ca, Ti, V, Mn, Fe, Cu, Zn, Br, and Pb can be measured in samples from 0.7 m3 of air collected over 12-hour intervals at 1 liter/min flow rate, with precision of single analyses generally 10-30%, except near the nanogram detection limit. 2. Some elements, e.g. Ca, Fe, Ti, K show a tendency for highest concentrations in air measured in largest particle size fractions, and the pattern of distribution of concentration with size is relatively invariant. Predominantly dispersion source processes may account for their entry into the atmosphere. 3. Other elements, e.g. S, Pb, Zn, have substantial proportions of their atmospheric concentrations on smallest particles and show greater variability in particle size distribution patterns, suggesting aerosol formation processes of vapor condensation at high or low temperatures. 4. During 16-22 August 1973 an atmospheric change occurred from a period of low speed and mostly southerly air flow, with evident haze and air pollution, to higher speed and westerly shifting to easterly air flow, with improved visibility and air quality. The change was associated with drops in concentrations of Ti, Fe, Ca, K, and S but not Zn or Pb at the south site and Ti but not the other elements at the central site. Transport of air pollution from industrial sources south of the city is indicated. 5. The central site showed diurnal variation during the first period where concentrations of Ti, Fe, Ca, K, and S were higher in samples taken from midnight to noon than in those from noon to midnight. Variations were greatest for intermediate sized particles.
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