| 1. |
- Pekkinen, M., et al.
(författare)
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
- 2019
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Ingår i: Jci Insight. - : American Society for Clinical Investigation. - 2379-3708. ; 4:7
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Tidskriftsartikel (refereegranskat)abstract
- Mechanisms leading to osteoporosis are incompletely understood. Genetic disorders with skeletal fragility provide insight into metabolic pathways contributing to bone strength. We evaluated 6 families with rare skeletal phenotypes and osteoporosis by next-generation sequencing. In all the families, we identified a heterozygous variant in SGMS2, a gene prominently expressed in cortical bone and encoding the plasma membrane-resident sphingomyelin synthase SMS2. Four unrelated families shared the same nonsense variant, c.148C>T (p.Arg50*), whereas the other families had a missense variant, c.185T>G (p.IIe62Ser) or c.191T>G (p.Met64Arg). Subjects with p.Arg50* presented with childhood-onset osteoporosis with or without cranial sclerosis. Patients with p.IIe62Ser or p.Met64Arg had a more severe presentation, with neonatal fractures, severe short stature, and spondylometaphyseal dysplasial Several subjects had experienced peripheral facial nerve palsy or other neurological manifestations. Bone biopsies showed markedly altered bone material characteristics, including defective bone mineralization. Osteoclast formation and function in vitro was normal. While the p.Arg50* mutation yielded a catalytically inactive enzyme, p.IIe62Ser and p.Met64Arg each enhanced the rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum. SGMS2 pathogenic variants underlie a spectrum of skeletal conditions, ranging from isolated osteoporosis to complex skeletal dysplasia, suggesting a critical role for plasma membrane-bound sphingomyelin metabolism in skeletal homeostasis.
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| 2. |
- Feldman, H., et al.
(författare)
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Assessing the effects of intra-granule precipitation in a full-scale industrial anaerobic digester
- 2019
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Ingår i: Water Science and Technology. - : IWA Publishing. - 0273-1223 .- 1996-9732. ; 79:7, s. 1327-1337
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Tidskriftsartikel (refereegranskat)abstract
- In this paper, a multi-scale model is used to assess the multiple mineral precipitation potential in a full-scale anaerobic granular sludge system. Reactor behaviour is analysed under different operational conditions (addition/no addition of reject water from dewatering of lime-stabilized biomass) and periods of time (short/long term). Model predictions suggest that a higher contribution of reject water promotes the risk of intra-granule CaCO3 formation as a result of the increased quantity of calcium arriving with that stream combined with strong pH gradients within the biofilm. The distribution of these precipitates depends on: (i) reactor height; and (ii) granule size. The study also exposes the potential undesirable effects of the long-term addition of reject water (a decrease in energy recovery of 20% over a 100-day period), caused by loss in biomass activity (due to microbial displacement), and the reduced buffer capacity. This demonstrates how both short-term and long-term operational conditions may affect the formation of precipitates within anaerobic granules, and how it may influence methane production and consequently energy recovery.
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| 3. |
- Feldman, H, et al.
(författare)
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Modelling an industrial anaerobic granular reactor using a multi-scale approach
- 2017
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Ingår i: Water Research. - : Elsevier BV. - 0043-1354. ; 126, s. 488-500
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this paper is to show the results of an industrial project dealing with modelling of anaerobic digesters. A multi-scale mathematical approach is developed to describe reactor hydrodynamics, granule growth/distribution and microbial competition/inhibition for substrate/space within the biofilm. The main biochemical and physico-chemical processes in the model are based on the Anaerobic Digestion Model No 1 (ADM1) extended with the fate of phosphorus (P), sulfur (S) and ethanol (Et−OH). Wastewater dynamic conditions are reproduced and data frequency increased using the Benchmark Simulation Model No 2 (BSM2) influent generator. All models are tested using two plant data sets corresponding to different operational periods (#D1, #D2). Simulation results reveal that the proposed approach can satisfactorily describe the transformation of organics, nutrients and minerals, the production of methane, carbon dioxide and sulfide and the potential formation of precipitates within the bulk (average deviation between computer simulations and measurements for both #D1, #D2 is around 10%). Model predictions suggest a stratified structure within the granule which is the result of: 1) applied loading rates, 2) mass transfer limitations and 3) specific (bacterial) affinity for substrate. Hence, inerts (XI) and methanogens (Xac) are situated in the inner zone, and this fraction lowers as the radius increases favouring the presence of acidogens (Xsu,Xaa, Xfa) and acetogens (Xc4,Xpro). Additional simulations show the effects on the overall process performance when operational (pH) and loading (S:COD) conditions are modified. Lastly, the effect of intra-granular precipitation on the overall organic/inorganic distribution is assessed at: 1) different times; and, 2) reactor heights. Finally, the possibilities and opportunities offered by the proposed approach for conducting engineering optimization projects are discussed.
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| 4. |
- Flores-Alsina, X., et al.
(författare)
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Evaluation of anaerobic digestion post-treatment options using an integrated model-based approach
- 2019
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Ingår i: Water Research. - : Elsevier BV. - 0043-1354. ; 156, s. 264-276
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this paper is to present the main results of an engineering-research project dealing with model-based evaluation of waste streams treatment from a biotech company. This has been extensively done in domestic treatment systems, but is equally important, and with different challenges in industrial wastewater treatment. A new set of biological (activated sludge, anaerobic digestion), physicochemical (aqueous phase, precipitation, mass transfer) process models and model interfaces are required to describe removal of organics in an upflow anaerobic sludge blanket (UASB) reactor plus either traditional nitrification/denitrification (A 1 ) or partial nitritation (PN)/anammox (ANX) (A 2 ) processes. Model-based analysis shows that option A 1 requires a decrease in digestion energy recovery (E recovery ) in order to have enough organic substrate for subsequent post NO 3 reduction treatment (95 kWh.kg N −1 ). In contrast, A 2 in an aerobic granular sludge reactor allows for higher UASB conversion since N removal is carried out autotrophically. The study also reveals that the addition of an aerated pre-treatment unit prior to the PN/ANX (A 2 ) reactor promotes COD and H 2 S oxidation, CO 2 and CH 4 stripping, a pH increase (up to 8.5) and a reduction of the risk of intra-granular precipitation as well as sulfide inhibition. Simulations indicate clear differences regarding the microbial distribution/abundance within the biofilm in A 2 when comparing the two operational modes. Final results show the effects of different loading and operational conditions; dissolved oxygen (DO), Total Suspended Solids (TSS op ), energy recovery (E recovery ); on the overall process performance; N removal, aeration energy (E aeration ), net energy production (E recovery ); using response surfaces, highlighting the need of integrated approaches to avoid sub-optimal outcomes. The study shows the benefits of virtual plant simulation and demonstrates the potential of model-based evaluation when process engineers in industry have to decide between competing options.
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| 5. |
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| 6. |
- Cirgic, Emina, 1978, et al.
(författare)
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Discomfort, expectations, and experiences during treatment of large overjet with Andresen Activator or Prefabricated Functional Appliance: a questionnaire survey
- 2017
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Ingår i: Acta Odontologica Scandinavica. - : Informa UK Limited. - 0001-6357 .- 1502-3850. ; 75:3, s. 166-172
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Tidskriftsartikel (refereegranskat)abstract
- Background: The purpose of this study was to investigate the amount of functional and social discomfort experienced after 1 and 6 months of appliance wear, comparing a slightly modified Andresen Activator (AA) and a Prefabricated Functional Appliance (PFA).Methods: Ninety-seven patients randomly selected by lottery in an AA (40 subjects), and a PFA (57 subjects) group, with an Angle Class II, Division 1 malocclusion, were eligible for the study. One month and 6 months after start of treatment, a questionnaire, addressing discomfort, perception of treatment need and outcome, was used.Results: The response rate was 69% after 1 month, and 45% after 6 months. The most common discomfort reported was the appliance falling out during sleep' followed by 'difficulties in remembering it'. The only difference was for pain, which was experienced more extensively in the AA group after 1 month of treatment. The dentist appeared to have the greatest impact on the decision to initiate treatment. Teasing, because of appearance, occurred in 13% of the cases.Conclusions: No difference could be seen between groups for the experience of functional or social discomfort after 6 months of appliance use. Adequate time should be allowed for clarifying treatment difficulties, using treatment need as motivation.Practical implications: The PFA eliminates the need for taking impressions. Furthermore, it can be economically advantageous to both patients and clinicians.
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| 7. |
- Jonsson, J, et al.
(författare)
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Measuring precarious employment in Sweden: translation, adaptation and psychometric properties of the Employment Precariousness Scale (EPRES)
- 2019
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 9:9, s. e029577-
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Tidskriftsartikel (refereegranskat)abstract
- Precarious employment (PE) is a determinant of poor health and health inequality. However, the evidence of health consequences and mechanisms underlying the associations, are still limited due to a lack of a comprehensive multidimensional definition and measurement instrument. The Employment Precariousness Scale (EPRES) is a Spanish, multidimensional scale, developed to measure degree of PE. The aim of this study was to translate the EPRES-2010 into Swedish, adapt it to the Swedish context and to assess the psychometric properties of the Swedish EPRES.MethodEPRES was translated, adapted and implemented for data collection within the research project PRecarious EMployment in Stockholm (PREMIS). During 2016–2017, questionnaire data were collected from 483 non-standard employees in Stockholm, Sweden, sampled with web-based respondent-driven sampling. Analyses included item descriptive statistics, scale descriptive statistics and exploratory factor analysis.ResultsThe final EPRES-Se (Swedish version of the EPRES),consisted of six dimensions and 23 items. There was a high response rate to all items and response options. Global Cronbach’s alpha was 0.83. Subscales ‘vulnerability’, ‘rights’ and ‘exercise rights’ had reliability coefficients between α=0.78–0.89 and item-subscale correlations between r=0.48–0.78. ‘Temporariness’ had poor reliability (α=−0.08) and inter-item correlation (r=−0.04), while ‘disempowerment’ showed acceptable psychometric properties (α=0.5; r=0.34). Exploratory factor analysis confirmed the original EPRES factor structure.Conclusions‘Vulnerability’, ‘wages’, ‘rights’, ‘exercise rights’ and ‘disempowerment’ worked in the Swedish context; however, ‘temporariness’ would need revising before implementing the EPRES-Se in further research. Continued work and validation of EPRES-Se is encouraged. In order to enable international comparisons and multinational studies, similar studies in other European countries are also called for.
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| 8. |
- Kjellberg, Sara, et al.
(författare)
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Making research data possible : negotiating between disciplinary cultures, temporalities, data policies, professional interests and education and training
- 2016
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Ingår i: Proceedings of the 79th ASIS&T Annual Meeting. - : International Association of Computer Science and Information Technology Press. ; 53:1, s. 1-4
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Konferensbidrag (refereegranskat)abstract
- The workshop brings together differing perspectives on what makes research data possible. How data is made represents an on-going negotiation between a number of elements. It reflects, firstly, the nature of disciplines and the complex way this is linked to cultures of research data and data sharing. Secondly, data is made across the complex temporalities within different practices of its management. Thirdly, it increasingly reflects the influences of data policies: working at the international and national, down to institutional level. Fourthly, it is also shaped by the renegotiation of professional interests and relationships such as between librarians, computing services, archivists and research administrators. And, fifthly, data is being shaped within models of education and training of current and new information professionals. The panel seeks to bring together a diverse range of participants to explore appropriate theories and methodologies for work in this field, using a conversation cafe format, and based on discussions around the five elements.
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| 9. |
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| 10. |
- Lundin, A., et al.
(författare)
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The Association Between Self-Assessed Future Work Ability and Long-Term Sickness Absence, Disability Pension and Unemployment in a General Working Population : A 7-Year Follow-Up Study
- 2016
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Ingår i: Journal of occupational rehabilitation. - : Springer Science and Business Media LLC. - 1053-0487 .- 1573-3688. ; 26:2, s. 195-203
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Tidskriftsartikel (refereegranskat)abstract
- Purpose Work ability is commonly measured with self-assessments, in the form of indices or single items. The validity of these assessments lies in their predictive ability. Prospective studies have reported associations between work ability and sickness absence and disability pension, but few examined why these associations exist. Several correlates of work ability have been reported, but their mechanistic role is largely unknown. This study aims to investigate to what extent individual's own prognosis of work ability predicts labor market participation and whether this was due to individual characteristics and/or working conditions. Methods Self-assessed prognosis of work ability, 2 years from now, in the Stockholm Public Health Questionnaire (2002-2003) was linked to national registers on sickness absence, disability pension and unemployment up to year 2010. Effects were studied with Cox regression models. Results Of a total of 12,064 individuals 1466 reported poor work ability. There were 299 cases of disability pension, 1466 long-term sickness absence cases and 765 long-term unemployed during follow-up. Poor work ability increased the risk of long-term sickness absence (HR 2.25, CI 95 % 1.97-2.56), disability pension (HR 5.19, CI 95 % 4.07-6.62), and long-term unemployment (HR 2.18, CI 95 % 1.83-2.60). These associations were partially explained by baseline health conditions, physical and (less strongly) psychosocial aspects of working conditions. Conclusions Self-assessed poor ability predicted future long-term sickness absence, disability pension and long-term unemployment. Self-assessed poor work ability seems to be an indicator of future labor market exclusion of different kinds, and can be used in public health monitoring.
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