| 1. |
- Johansson, J., et al.
(författare)
-
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- 2024
-
Ingår i: European Journal of Human Genetics. - : SPRINGERNATURE. - 1018-4813 .- 1476-5438. ; 32:3, s. 333-341
-
Tidskriftsartikel (refereegranskat)abstract
- RNA binding motif protein X-linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene's importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvement of other hnRNP G domains in intellectual disability remain unknown. In the current study, we present the underlying genetic and molecular cause of Gustavson syndrome. Gustavson syndrome was first reported in 1993 in a large Swedish five-generation family presented with profound X-linked intellectual disability and an early death. Extensive genomic analyses of the family revealed hemizygosity for a novel in-frame deletion in RBMX in affected individuals (NM_002139.4; c.484_486del, p.(Pro162del)). Carrier females were asymptomatic and presented with skewed X-chromosome inactivation, indicating silencing of the pathogenic allele. Affected individuals presented minor phenotypic overlap with Shashi syndrome, indicating a different disease-causing mechanism. Investigation of the variant effect in a neuronal cell line (SH-SY5Y) revealed differentially expressed genes enriched for transcription factors involved in RNA polymerase II transcription. Prediction tools and a fluorescence polarization assay imply a novel SH3-binding motif of hnRNP G, and potentially a reduced affinity to SH3 domains caused by the deletion. In conclusion, we present a novel in-frame deletion in RBMX segregating with Gustavson syndrome, leading to disturbed RNA polymerase II transcription, and potentially reduced SH3 binding. The results indicate that disruption of different protein domains affects the severity of RBMX-associated intellectual disabilities.
|
|
| 2. |
- Johansson, S., et al.
(författare)
-
Coherent light source based on sum-frequency mixing
- 2005
-
Patent (populärvet., debatt m.m.)abstract
- A method and a device for generating visible coherent radiation is disclosed. The visible coherent radiation is generated by sum-frequency mixing of a first fundamental beam from a diode laser and a second fundamental beam from a diode-pumped solid-state laser. The mixing is performed by means of a quasi-phasematching element provided within the resonant cavity of the solid-state laser. The first fundamental beam is stabilized by providing feedback to the diode laser.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Åberg, F., et al.
(författare)
-
Cancer After Liver Transplantation in Children and Young Adults: A Population-Based Study From 4 Nordic Countries
- 2018
-
Ingår i: Liver Transplantation. - : Ovid Technologies (Wolters Kluwer Health). - 1527-6465 .- 1527-6473. ; 24:9, s. 1252-1259
-
Tidskriftsartikel (refereegranskat)abstract
- Cancer after liver transplantation (LT) constitutes a threat also for young recipients, but cancer risk factors are usually absent in children and large studies on the cancer risk profile in young LT recipients are scarce. Data of patients younger than 30 years who underwent LT during the period 1982‐2013 in the Nordic countries were linked with respective national cancer registries to calculate standardized incidence ratios (SIRs). A total of 37 cancer cases were observed in 923 patients with 7846 person‐years of follow‐up. The SIR for all cancer types, compared with the matched general population, was 9.8 (12.4 for males and 7.8 for females). Cumulative incidence of cancer adjusted for the competing risk of death was 2% at 10 years, 6% at 20 years, and 22% at 25 years after LT. Non‐Hodgkin lymphoma was the most common cancer type (n = 14) followed by colorectal (n = 4) and hepatocellular cancer (n = 4). Age was a significant risk factor for cancer, and the absolute risk of most cancers (except for lymphoma) increased considerably in young adults older than 20 years. The cancer risk pattern is different in pediatric and young LT patients compared with adult recipients. The striking increase in cancer incidence in young adulthood after the second decade of life deserves further consideration in transition programs.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Ekvall, K., et al.
(författare)
-
Cross phase modulation artifact in liquid phase transient absorption spectroscopy
- 2000
-
Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 87:5, s. 2340-2352
-
Tidskriftsartikel (refereegranskat)abstract
- We present experimental results for the cross phase modulation (xpm) induced transient absorption signal in a 1 mm thick fused silica plate using a white light continuum as a probe. The fused silica plate mimics the entrance window of a commercial flow cell commonly used in liquid-phase transient absorption measurements. The experimental results are compared with those obtained theoretically by numerically solving the set of nonlinear coupled wave equations describing the propagation of the pump and the probe. The simulations allow for the different group velocities of the pump and probe pulses, and include the influence of the first and second order dispersion on the continuum probe. From the calculations the physical origin of the complex oscillatory feature observed around the zero time delay of each wavelength of the (chirped) continuum has been accurately identified. The influence of propagation effects arising from the finite thickness of the sample is discussed in great detail, and the necessity to work with thin samples, preferably free-flowing jets, is emphasized. The good agreement between theory and experiment indicates that the xpm artifact may be useful for characterizing the continuum probe, in particular its chirp.
|
|
| 11. |
|
|
| 12. |
- Ekvall, S., et al.
(författare)
-
Mutation in NRAS in familial Noonan syndrome - case report and review of the literature
- 2015
-
Ingår i: Bmc Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 16
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. Case presentation: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing. The result revealed a recurrent mutation in NRAS, c.179G > A (p.G60E), in the index patient. This mutation was inherited from the index patient's father, who also showed signs of NS. Conclusions: We describe clinical features in this family and review the literature for genotype-phenotype correlations for NS patients with mutations in NRAS. Neither of affected individuals in this family presented with juvenile myelomonocytic leukemia (JMML), which together with previously published results suggest that the risk for NS individuals with a germline NRAS mutation developing JMML is not different from the proportion seen in other NS cases. Interestingly, 50 % of NS individuals with an NRAS mutation (including our family) present with lentigines and/or Cafe-au-lait spots. This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. The clinical and genetic heterogeneity observed in RASopathies is a challenge for genetic testing. However, next-generation sequencing technology, which allows screening of a large number of genes simultaneously, will facilitate an early and accurate diagnosis of patients with RASopathies.
|
|
| 13. |
- Ekvall, S., et al.
(författare)
-
Object recognition and pose estimation using color cooccurrence histograms and geometric modeling
- 2005
-
Ingår i: Image and Vision Computing. - : Elsevier BV. - 0262-8856 .- 1872-8138. ; 23:11, s. 943-955
-
Tidskriftsartikel (refereegranskat)abstract
- Robust techniques for object recognition and pose estimation are essential for robotic manipulation and object grasping. In this paper, a novel approach for object recognition and pose estimation based on color cooccurrence histograms and geometric modelling is presented. The particular problems addressed are: (i) robust recognition of objects in natural scenes, (ii) estimation of partial pose using an appearance based approach, and (iii) complete 6DOF model based pose estimation and tracking using geometric models. Our recognition scheme is based on the color cooccurrence histograms embedded in a classical learning framework that facilitates a 'winner-takes-all' strategy across different views and scales. The hypotheses generated in the recognition stage provide the basis for estimating the orientation of the object around the vertical axis. This prior, incomplete pose information is subsequently made precise by a technique that facilitates a geometric model of the object to estimate and continuously track the complete 6DOF pose of the object. Major contributions of the proposed system are the ability to automatically initiate an object tracking process, its robustness and invariance towards scaling and translations as well as the computational efficiency since both recognition and pose estimation rely on the same representation of the object. The performance of the system is evaluated in a domestic environment with changing lighting and background conditions on a set of everyday objects.
|
|
| 14. |
- Ekvall, Tomas, et al.
(författare)
-
Opportunities of consequential and attributional modelling in life cycle assessment of wastewater and sludge management.
- 2019
-
Ingår i: Journal of Cleaner Production. - 0959-6526 .- 1879-1786. ; :222, s. 242-251
-
Tidskriftsartikel (refereegranskat)abstract
- Despite general agreement on the importance of adjusting each life cycle assessment (LCA) to its goal, the methodological choices in previously published LCAs on wastewater and sludge management systems are surprisingly similar, even when the information sought in the studies most likely differ. We argue that the potential of LCA may not currently be fully utilised, partly due to particular methodological challenges arising in both attributional and consequential LCAs for this type of systems. By developing the theory for handling of allocation problems in attributional LCAs, and by elaborating on the different possible foreseeable consequences in consequential LCA, we aim to facilitate both attributional and consequential LCAs, and to show the importance of this choice for a specific wastewater and sludge management system.
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
- Rebizer, G, et al.
(författare)
-
Life Cycle Assessment – Part 1: Framework, Goal & Scope Definition, Inventory Analysis, and Applications
- 2004
-
Ingår i: Environment International. ; 30:5, s. 701-720
-
Tidskriftsartikel (refereegranskat)abstract
- AbstractSustainable development requires methods, and tools, to measure and compare the environmental impacts of human activities for the provision of goods and services (both of which are summarized under the term products). Environmental impacts include those from emissions into the environment and through the consumption of resources, as well as other interventions (e.g. land use) associated with providing products that occur when extracting resources, producing materials, manufacturing the products, during consumption/use, and at the products end-of-life (collection/sorting, reuse, recycling, waste disposal). These emissions and consumptions contribute to a wide range of impacts, such as climate change, stratospheric ozone depletion, tropospheric ozone (smog) creation, eutrophication, acidification, toxicological stress on human health and ecosystems, the depletion of resources, water use, land use, and noise among others. A clear need, therefore, exists to be proactive and to provide complimentary insights, apart from current regulatory practices, to help reduce such impacts. Practitioners and researchers from many domains come together in life cycle assessment (LCA) to calculate indicators of the aforementioned potential environmental impacts that are linked to products - supporting the identification of opportunities for pollution prevention and reductions in resource consumption while taking the entire product life cycle into consideration. This paper, Part 1 in a series of 2, introduces the LCA framework and procedure, outlines how to define and model a products life cycle, and provides an overview of available methods and tools for tabulating and compiling associated emissions and resource consumption data in a life cycle inventory. It also discusses the application of LCA in industry and policy-making. The second paper, by Pennington et al. (2003), highlights the key features, summarises available approaches, and outlines the key challenges of assessing the aforementioned inventory data in terms of contributions to environmental impacts (life cycle impact assessment).
|
|
| 19. |
- Röshammar, Daniel, 1979, et al.
(författare)
-
Non-linear mixed effects modeling of antiretroviral drug response after administration of lopinavir, atazanavir and efavirenz containing regimens to treatment-naive HIV-1 infected patients
- 2011
-
Ingår i: Journal of Pharmacokinetics and Pharmacodynamics. - : Springer Science and Business Media LLC. - 1567-567X .- 1573-8744. ; 38:6, s. 727-742
-
Tidskriftsartikel (refereegranskat)abstract
- The objective of this analysis was to compare three methods of handling HIV-RNA data below the limit of quantification (LOQ) when describing the time-course of antiretroviral drug response using a drug-disease model. Treatment naive Scandinavian HIV-positive patients (n = 242) were randomized to one of three study arms. Two nucleoside reverse transcriptase inhibitors were administrated in combination with 400/100 mg lopinavir/ritonavir twice daily, 300/100 mg atazanavir/ritonavir once a day or 600 mg efavirenz once a day. The viral response was monitored at screening, baseline and at 1, 2, 3, 4, 12, 24, 48, 96, 120, and 144 weeks after study initiation. Data up to 400 days was fitted using a viral dynamics non-linear mixed effects drug-disease model in NONMEM. HIV-RNA data below LOQ of 50 copies/ml plasma (39%) was omitted, replaced by LOQ/2 or included in the analysis using a likelihood-based method (M3 method). Including data below LOQ using the M3 method substantially improved the model fit. The drug response parameter expressing the fractional inhibition of viral replication was on average (95% CI) estimated to 0.787 (0.721-0.864) for lopinavir and atazanavir treatment arms and 0.868 (0.796-0.923) for the efavirenz containing regimen. At 400 days after treatment initiation 90% (76-100) of the lopinavir and atazanavir treated patients were predicted to have undetectable viral levels and 96% (89-100%) for the efavirenz containing treatment. Including viral data below the LOQ rather than omitting or replacing data provides advantages such as better model predictions and less biased parameter estimates which are of importance when quantifying antiretroviral drug response.
|
|
| 20. |
|
|
| 21. |
- Sellgren, S, et al.
(författare)
-
Nursing staff turnover: does leadership matter?
- 2007
-
Ingår i: Leadership in health services (Bradford, England). - : Emerald. - 1751-1879. ; 20:3, s. 169-83
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of this paper is to study the relation between leadership behaviour of nursing managers and staff turnover with respect to the intervening variables “work climate” and “job satisfaction”.Design/methodology/approachThree different well‐documented questionnaires were used to assess perceived leadership behaviour, work climate and job satisfaction. Data on staff turnover were collected from a computerized follow‐up system. Different statistical analyses such as correlation analyses, regression analyses and analyses of variance were performed in order to explore the relations.FindingsThe results show strong correlations between leadership behaviour, work climate and job satisfaction. No significant direct relation between leadership behaviour and staff turnover was shown. Staff turnover shows statistically significant correlations with the job satisfaction variable “feeling” (p≤0.005), and the work climate variables “challenge” and “playfulness” (p≤0.001).Practical implicationsIn order to limit staff turnover, decision makers should put effort into recruiting and retaining managers that perform very well according to the needs of staff. Managers that are both relations‐oriented and production‐oriented, can manage change and are able to stimulate the staff with challenges have the best opportunities to achieve low staff turnover.Originality/valueTo the best of the authors' knowledge there is no study published that explores the influence of leadership behaviour, including the dimension “change”, on staff turnover in relation to intervening intrinsic factors of job satisfaction and creative work climate in nursing.
|
|
| 22. |
- Sundén, A., et al.
(författare)
-
Hip complaints differ across age and sex : A population-based reference data for the Hip disability and Osteoarthritis Outcome Score (HOOS)
- 2018
-
Ingår i: Health and Quality of Life Outcomes. - : Springer Science and Business Media LLC. - 1477-7525. ; 16:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The Hip disability and Osteoarthritis Outcome Score (HOOS) is a self-administered hip-specific questionnaire intended to evaluate symptoms and functional limitations, and it is commonly used to evaluate interventions in individuals with hip dysfunction or hip osteoarthritis. The HOOS consists of 43 questions in five subscales: Pain, Symptoms, Function in daily living, Function in sport and recreation and Hip-Related Quality of Life. This study aimed to establish population-based reference values for the HOOS and to describe the variation of hip-related symptoms in an adult population. Methods: The HOOS questionnaire was mailed to 840 individuals aged 18-84 years randomly retrieved from a national population record for the Skåne region of Southern Sweden. Results: The overall response rate was 67%. Older women and men consistently reported more hip-related complaints than those younger. There were significant differences between the oldest and the youngest age groups in all five subscales in women and men. Conclusions: Hip-related pain, symptoms, activity of daily life and quality of life varied with age and sex in this population-based cohort. Our findings show the importance of using age- and sex-matched reference values for evaluation of outcomes after interventions due to hip-related problems.
|
|
| 23. |
|
|
