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1.
  • Allentoft, Morten E., et al. (författare)
  • Population genomics of post-glacial western Eurasia
  • 2024
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
  • Tidskriftsartikel (refereegranskat)abstract
    • Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
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2.
  • Barrie, William, et al. (författare)
  • Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations
  • 2024
  • Ingår i: NATURE. - 0028-0836 .- 1476-4687. ; 625:7994
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiple sclerosis (MS) is a neuro-inflammatory and neurodegenerative disease that is most prevalent in Northern Europe. Although it is known that inherited risk for MS is located within or in close proximity to immune-related genes, it is unknown when, where and how this genetic risk originated1. Here, by using a large ancient genome dataset from the Mesolithic period to the Bronze Age2, along with new Medieval and post-Medieval genomes, we show that the genetic risk for MS rose among pastoralists from the Pontic steppe and was brought into Europe by the Yamnaya-related migration approximately 5,000 years ago. We further show that these MS-associated immunogenetic variants underwent positive selection both within the steppe population and later in Europe, probably driven by pathogenic challenges coinciding with changes in diet, lifestyle and population density. This study highlights the critical importance of the Neolithic period and Bronze Age as determinants of modern immune responses and their subsequent effect on the risk of developing MS in a changing environment. Analysis of a large ancient genome dataset shows that genetic risk for multiple sclerosis rose in steppe pastoralists, providing insight into how genetic ancestry from the Neolithic and Bronze Age has shaped modern immune responses.
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3.
  • Kljajić, Marizela, et al. (författare)
  • Children Treated for Nonsyndromic Craniosynostosis Exhibit Average Adaptive Behavior Skills with Only Minor Shortcomings
  • 2021
  • Ingår i: Plastic and reconstructive surgery. - 1529-4242. ; 147:2, s. 453-464
  • Tidskriftsartikel (refereegranskat)abstract
    • Copyright © 2021 by the American Society of Plastic Surgeons. BACKGROUND: Adaptive behavior skills are important when assessing cognitive functions related to daily life; however, few studies have assessed these skills in patients treated for nonsyndromic craniosynostosis. In this study, the authors assessed the adaptive behavior skills of children treated for craniosynostosis and examined whether their outcomes are related to surgical technique. METHODS: The Adaptive Behavior Assessment System, 2nd Edition, parent report was used for children (age, 7 to 16 years) treated for sagittal (n = 41), metopic (n = 24), and other rare synostoses (n = 8). Background data, including intelligence quotient, were controlled for confounders. RESULTS: All evaluated children treated for craniosynostosis were estimated as lower in all aspects of adaptive behavior skills (full-scale, conceptual, social, and practical composites; effect size, 0.36 to 0.44) as compared with norms. The sagittal group showed shortcomings in social composite (effect size, 0.48) and subscales measuring self-care and self-direction, although no difference was observed between spring-assisted surgery and pi-plasty regarding outcomes of adaptive behavior skills. In addition, children treated for metopic synostosis showed results indicating shortcomings with adaptive behavior according to the full-scale, conceptual, and social composites (effect size, 0.53 to 0.61) relative to norms. Furthermore, attrition analysis revealed no significant differences between responders (rate, 80.2 percent) and nonresponders. CONCLUSION: These results found that children treated for craniosynostosis display average adaptive behavior skills, and that the two surgical techniques used to treat sagittal synostosis did not differ in their behavioral outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.
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4.
  • Kljajić, Marizela, et al. (författare)
  • Health-related quality of life of children treated for non-syndromic craniosynostosis
  • 2023
  • Ingår i: Journal of Plastic Surgery and Hand Surgery. - 2000-656X. ; 57:1-6
  • Tidskriftsartikel (refereegranskat)abstract
    • Health-related quality of life (HRQoL) allows the acquisition of the subjective perspective of patients regarding their health and function; yet a very few studies have been evaluated HRQoL of patients treated for craniosynostosis (CS). In this retrospective, descriptive cohort study, school-aged children (7–16 years) treated for non-syndromic CS were assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales. Seventy-three patients and their parents responded to the PedsQL (response rate: 80.2%). Patients generally estimated average HRQoL with no difference compared to the normal population sample. Further, no difference in HRQoL was found between treated sagittal (SS) or metopic synostosis. In the SS group, surgical methods involving spring-assisted surgery and pi-plasty were unrelated to HRQoL outcomes. Additionally, HRQoL was highly correlated with intelligence quotient (IQ, r = 0.42; p = 0.0004) and adaptive behavior skills (ABAS, r = 0.57; p = 0.0001). Furthermore, differences were observed in estimated physical function (p = 0.002) and school function (p = 0.012) between self- and proxy reports (i.e. parents estimated child HRQoL as higher than did the children). Children treated for CS have a generally average HRQoL, and neither CS type nor surgical method influenced HRQoL outcomes. Moreover, children and parents estimated HRQoL differently, suggesting the importance of using both self- and proxy reporting in patient-reported measures. HRQoL was strongly related to IQ and ABAS, indicating that the PedsQL can be used as a screening instrument to identify craniofacial patients in need of further psychological assessment.
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5.
  • Kljajić, Marizela, et al. (författare)
  • Sustained attention and vigilance of children treated for sagittal and metopic craniosynostosis.
  • 2020
  • Ingår i: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. - : Informa UK Limited. - 1744-4136. ; 26:4, s. 475-488
  • Tidskriftsartikel (refereegranskat)abstract
    • Attention problems are common in patients with craniosynostosis. Craniosynostosis is a rare condition, studies face challenges of selection bias, small sample sizes, and wide age ranges. The aim of the study was to assess the sustained attention and vigilance of children treated for sagittal and metopic craniosynostosis. To reduce selection bias, we included children that had previously undergone surgery for craniosynostosis, were between 8 and 16years, and lived close to the craniofacial centre. The Connors Continuous Performance Test (3rd edition) was used to measure sustained attention and vigilance (n =61; response rate: 76.3%). Attrition analysis revealed no differences between responding and non-responding groups regarding background variables. One identified difference between the SS (n =28) and MS (n =23) groups involved significantly better performance by the SS group in the hit-reaction time (HRT) test relative to the MS group (p<0.05). Compared with the norms, the SS group showed significantly worse response style, detectability, omissions, commissions, perseverations, HRT response speed (HRT-SD), HRT inter-stimulus interval change (HRT-iC) (p<0.01 for all), and variability (p<0.05). The MS group showed significantly worse detectability, HRT-SD, variability (p<0.01 for all), commissions, perseverations and HRT-iC (p<0.05 for all) as compared with norms. No differences regarding attention was detected for the two different surgical techniques used for correction of sagittal synostosis. There were shortcomings in sustained attention and vigilance as compared with the norms in the SS and MS groups, although the deviations were small.
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6.
  • Sand, Tommy, 1982, et al. (författare)
  • A Comparison of the Oxidation and Nitridation Properties of Selected Chromia- and Alumina-Forming Alloys at 800 degrees C
  • 2022
  • Ingår i: Oxidation of Metals. - : Springer Science and Business Media LLC. - 1573-4889 .- 0030-770X. ; 98:1-2, s. 163-178
  • Tidskriftsartikel (refereegranskat)abstract
    • Three FeCrAl alloys and two chromia-formers (a stainless steel, and a Ni-base alloy) have been exposed in four environments (dry air, air + 20% H2O, 20% H-2 + 20% H2O + Ar and 95% N-2 + 5% H-2) for 168 h at 800 degrees C. The corroded samples were investigated by SEM/EDS, XRD and gravimetry, and the formation of CrO2(OH)(2)(g) was measured as a function of time using a denuder technique. The Fe-base alloy formed a Cr-rich protective oxide scale in dry air and wet air but suffered break-away oxidation in 20% H-2 + 20% H2O + Ar. In contrast, the Ni-base alloy suffered extensive NiO formation and internal oxidation in dry air and wet air but formed a protective chromia scale in 20% H-2 + 20% H2O. All three FeCrAl alloys formed protective alumina scales in dry air, wet air and 20% H-2 + 20% H2O + Ar. The FeCrAl alloy Kanthal APMT was severely nitrided in the 95% N-2 + 5% H-2 environment due to defects in the oxide scale associated with RE-rich inclusions which allowed nitrogen to enter the alloy. In contrast, the two Cr-lean FeCrAl alloys Kanthal EF101 and Kanthal EF100 did not suffer nitridation at all.
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7.
  • Sand, Tommy, 1982, et al. (författare)
  • Efficacy of an external chromia layer in reducing nitridation of high temperature alloys
  • 2022
  • Ingår i: Corrosion Science. - : Elsevier BV. - 0010-938X. ; 197
  • Tidskriftsartikel (refereegranskat)abstract
    • Six high temperature alloys have been exposed in N2/H2 environments at 900 °C. In order to study the efficacy of a chromia barrier layer against nitrogen ingress, experiments were performed in two environments having the same N2/H2 ratio but slightly different water content, chromia formation being spontaneous in one case only. The samples were evaluated by SEM/STEM/EDX, XRD, gravimetry and GD-OES. The presence of an external chromia scale reduced nitridation of the alloy by 50–95%. Furthermore, in the presence of a continuous alumina layer no nitridation of the alloy was detected.
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8.
  • Sand, Tommy, 1982, et al. (författare)
  • Exploring the Effect of Silicon on the High Temperature Corrosion of Lean FeCrAl Alloys in Humid Air
  • 2021
  • Ingår i: Oxidation of Metals. - : Springer Science and Business Media LLC. - 1573-4889 .- 0030-770X. ; 95:3-4, s. 221-238
  • Tidskriftsartikel (refereegranskat)abstract
    • A new approach to reduce the chromium and aluminium concentrations in FeCrAl alloys without significantly impairing corrosion resistance is to alloy with 1-2 wt.% silicon. This paper investigates the "silicon effect" on oxidation by comparing the oxidation behavior and scale microstructure of two FeCrAl alloys, one alloyed with silicon and the other not, in dry and wet air at 600 degrees C and 800 degrees C. Both alloys formed thin protective oxide scales and the Cr-evaporation rates were small. In wet air at 800 degrees C the Si-alloyed FeCrAl formed an oxide scale containing mullite and tridymite together with alpha- and gamma-alumina. It is suggested that the reported improvement of the corrosion resistance of Al- and Cr-lean FeCrAl's by silicon alloying is caused by the appearance of Si-rich phases in the scale.
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9.
  • Schrenk, Dieter, et al. (författare)
  • Risk to human health related to the presence of perfluoroalkyl substances in food.
  • 2020
  • Ingår i: EFSA journal. European Food Safety Authority. - : Wiley. - 1831-4732. ; 18:9
  • Tidskriftsartikel (refereegranskat)abstract
    • The European Commission asked EFSA for a scientific evaluation on the risks to human health related to the presence of perfluoroalkyl substances (PFASs) in food. Based on several similar effects in animals, toxicokinetics and observed concentrations in human blood, the CONTAM Paneldecided to perform the assessment for the sum of four PFASs: PFOA, PFNA, PFHxS and PFOS. These made up half of the lower bound (LB) exposure to those PFASs with available occurrence data, the remaining contribution being primarily from PFASs with short half-lives. Equal potencies were assumed for the four PFASs included in the assessment. The mean LB exposure in adolescents and adult age groups ranged from 3 to 22, the 95th percentile from 9 to 70 ng/kg body weight (bw) per week. Toddlers and 'other children' showed a twofold higher exposure. Upper bound exposure was 4- to 49-fold higher than LB levels, but the latter were considered more reliable. 'Fish meat', 'Fruit and fruit products' and 'Eggs and egg products' contributed most to the exposure. Based on available studies in animals and humans, effects on the immune system were considered the most critical for the risk assessment. From a human study, a lowest BMDL 10 of 17.5 ng/mL for the sum of the four PFASs in serum was identified for 1-year-old children. Using PBPK modelling, this serum level of 17.5 ng/mL in children was estimated to correspond to long-term maternal exposure of 0.63 ng/kg bw per day. Since accumulation over time is important, a tolerable weekly intake (TWI) of 4.4 ng/kg bw per week was established. This TWI also protects against other potential adverse effects observed in humans. Based on the estimated LB exposure, but also reported serum levels, the CONTAM Panelconcluded that parts of the European population exceed this TWI, which is of concern.
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10.
  • Sundberg, Jonas, et al. (författare)
  • Expression of p53, p63, podoplanin and Ki-67 in recurring versus non-recurring oral leukoplakia.
  • 2021
  • Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Oral leukoplakia (OL), a potentially malignant disorder, recurs in 40% of cases after surgical removal. Recurrence is a risk factor for malignant transformation. We aimed to examine the prognostic significance of four biomarkers related to cell proliferation: p53, p63, podoplanin (PDPN) and Ki-67 in predicting recurrence. Formalin-fixed-paraffin-embedded specimens from excised OL (n=73, 33 recurrent; 40 non-recurrent) were collected in a prospective study. Immunohistochemistry was used to visualise expression of p53, p63, PDPN and Ki-67. Image analysis software was used for quantification of p53-, p63- and Ki-67-expressing cells, while PDPN was analysed visually. The expression of all four proteins were higher in recurrent compared with non-recurrent OL, only expression of p53 was statistically significant. In uni- and multivariable Cox regression analyses of individual markers, expression of p63 was significantly associated with higher recurrence risk (p=0.047). OL with a combined high expression of both p53 and p63 had a significantly higher risk to recur [Log Rank, p=0.036; multivariate Cox, HR: 2.48 (1.13-5.44; p=0.024)]. Combination of p53 and p63 expression may be used as a prognostic biomarker for recurrence of OL.
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11.
  • Sundberg, Jonas, et al. (författare)
  • High-risk human papillomavirus in patients with oral leukoplakia and oral squamous cell carcinoma-A multi-centre study in Sweden, Brazil and Romania.
  • 2021
  • Ingår i: Oral Diseases. - : Wiley. - 1354-523X .- 1601-0825. ; 27:2, s. 183-192
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: Although causal associations between oral leukoplakia (OL), oral squamous cell carcinoma (OSCC) and high-risk human papillomavirus (HR-HPV) have been speculated upon in several reports, conclusive evidence has not been presented. This study investigates whether the number of cases of HR-HPV in OL has increased over time and whether the prevalence of HR-HPV-positive OL differs in various parts of the world.PATIENTS AND METHODS: A total of 432 patients with OL from Sweden, Brazil and Romania were analysed. Patients were divided into historical (1992-2002) and contemporary (2011-2017) cohorts from the respective countries. Seventeen patients with OL developed oral squamous cell carcinoma (OSCC). A real-time PCR assay, targeting HPV sub-types 6,11,16,18,31,33,35,39,45,52,56,58 and 59, was performed to detect HR-HPV in patients with OL.RESULTS: In the Swedish and Romanian cohorts, none of the investigated HPV sub-types were detected. In the Brazilian cohorts, five patients with OL (3%) were positive for HR-HPV, including four patients from the contemporary cohort (HPV 16, 31, 33) and one from the historical cohort (HPV 11). All the cases of OL that transformed into OSCC were HR-HPV-negative, as were the corresponding tumours.CONCLUSIONS: In summary, the prevalence of HR-HPV in OL is low in all the tested countries, and the incidence has not changed over time. HR-HPV in OL does not seem to be a driver of oncogenesis.
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12.
  • Yangui, Aymen, 1987, et al. (författare)
  • Phosphor Thermometry of Alumina-Forming High-Temperature Alloys Using Luminescent Rare-Earth Ions in YAG: Proof of Concept Using a Dispersion of Ce 3+ -Doped YAG Particles in a FeCrAl Alloy
  • 2023
  • Ingår i: ECS Journal of Solid State Science and Technology. - : The Electrochemical Society. - 2162-8777 .- 2162-8769. ; 12:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Most high-temperature processes require monitoring and controlling temperature, preferably with high precision and good lateral resolution. Here we evaluate the use of the technique commonly known as phosphor thermometry, which exploits the temperature dependent photoluminescence from an inorganic phosphor, for the determination of the temperature of a composite material consisting of the metallic alloy FeCrAl dispersed with phosphor particles of yttrium aluminum garnet (Y3Al5O12, YAG) doped with a small amount of luminescent Ce3+ ions (YAG:Ce3+). The results show that with some optimization and by changing the dopant ion, YAG based phosphor particles offer a unique opportunity to measure the surface temperature of metal alloys with high precision and high lateral resolution, all the way up to the maximum working temperature of alumina-forming high temperature alloys at ca. 1300 °C.
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