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| 2. |
- Andersson, Gerhard, et al.
(författare)
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Evaluation of quality of life and symptoms after translabyrinthine acoustic neuroma surgery
- 1997
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Ingår i: AMERICAN JOURNAL OF OTOLOGY. - : LIPPINCOTT-RAVEN PUBL. - 0192-9763. ; 18:4, s. 421-426
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aimed to describe the consequences of acoustic neuroma surgery in terms of symptoms and quality of life. Study Design: This study was a retrospective case review. Setting: The surgery was conducted in Uppsala, Sweden. Patients: A co
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| 3. |
- Andersson, Gerhard, et al.
(författare)
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Tinnitus and translabyrinthine acoustic neuroma surgery
- 1997
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Ingår i: AUDIOLOGY AND NEURO-OTOLOGY. - : KARGER. - 1420-3030. ; 2:6, s. 403-409
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this investigation was to study the effects of translabyrinthine acoustic neuroma surgery on tinnitus in a consecutive sample of patients operated on between 1988 and 1994 in Uppsala (Sweden). A postal questionnaire was returned by 141 pat
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| 4. |
- Cetinic, I., et al.
(författare)
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Ultrasound Shear Wave Elastography, Shear Wave Dispersion and Attenuation Imaging of Pediatric Liver Disease with Histological Correlation
- 2022
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Ingår i: Children. - : MDPI AG. - 2227-9067. ; 9:5
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To evaluate the feasibility of multiple ultrasound markers for the non-invasive characterization of fibrosis, inflammation and steatosis in the liver in pediatric patients. Materials and methods: The quantitative ultrasound measures shear wave elastography (SWE), shear wave dispersion (SWD) and attenuation imaging (ATI) were compared and correlated with percutaneous liver biopsies and corresponding measures in a control cohort. Results: The median age of the 32 patients was 12.1 years (range 0.1-17.9), and that of the 15 controls was 11.8 years (range: 2.6-16.6). Results: There was a significant difference in SWE values between histologic grades of fibrosis (p = 0.003), with a positive correlation according to the grade (r = 0.7; p < 0.0001). Overall, a difference in SWD values between grades of inflammation was found (p = 0.009) but with a lack of correlation (r = 0.1; p = 0.67). Comparing inflammation grades 0-1 (median:13.6 m/s kHz [min; max; 8.4; 17.5]) versus grades 2-3 (16.3 m/s kHz [14.6; 24.2]) showed significant differences between the groups (p = 0.003). In the 30 individuals with a steatosis score of 0, ATI was measured in 23 cases with a median value of 0.56 dB/cm/MHz. Conclusion: Comprehensive ultrasound analysis was feasible to apply in children and has the potential to reflect the various components of liver affection non-invasively. Larger studies are necessary to conclude to what extent these image-based markers can classify the grade of fibrosis, inflammation and steatosis.
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| 7. |
- Johansson, J., et al.
(författare)
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- 2024
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Ingår i: European Journal of Human Genetics. - : SPRINGERNATURE. - 1018-4813 .- 1476-5438. ; 32:3, s. 333-341
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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.
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| 8. |
- Kelpsiene, Egle, et al.
(författare)
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Long-term exposure to nanoplastics reduces life-time in Daphnia magna
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Plastics are widely used in todays society leading to an accelerating amount of plastic waste entering natural ecosystems. Over time these waste products degrade to micro- and, eventually, nanoplastic particles. Therefore, the break-down of plastics may become a critical threat to aquatic ecosystems and several short term studies have demonstrated acute toxicity of nanoplastics on aquatic organisms. However, our knowledge about effects of chronic or life-time exposure on freshwater invertebrates remains elusive. Here, we demonstrate results from life-time exposure (103 days) of a common freshwater invertebrate, Daphnia magna, exposed to sub-lethal concentrations of polystyrene nanoparticles. 53 nm positively charged aminated polystyrene particles were lethal at concentration of 0.32 mg/L which is two magnitudes lower than previously used concentrations in short-term (24 h) tests. At this concentration the life-time of individuals was shortened almost three times. Negatively charged carboxylated 26 and 62 nm polystyrene particles, previously demonstrated to be non-toxic at 25 and 50 mg/L concentrations in short-term tests, were toxic to D. magna at all concentrations used in our long-term study. Although total reproductive output was not significantly affected at increasing concentrations of polystyrene nanoparticles, there was a decreasing trend in the number of offspring over their life-time. Hence, in order to understand how the potential future environmental problem of nanoplastic particles may affect biota, long-term or life-time studies resembling environmental concentrations should be performed in order to provide information for predictions of future scenarios in natural aquatic environments.
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| 9. |
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| 10. |
- Lesage, P, et al.
(författare)
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Environmental assessment of Brownfield rehabilitation using two different life cycle inventory models - Part 2: Case study
- 2007
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Ingår i: International Journal of Life Cycle Assessment. - : Springer Science and Business Media LLC. - 1614-7502 .- 0948-3349. ; 12:7, s. 497-513
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Tidskriftsartikel (refereegranskat)abstract
- Goal, Scope and Background. The principal aim of this paper is to evaluate the environmental attributes and consequences of a 'rehabilitation for residential redevelopment' scenario. It is contrasted to a non-intensive and low-cost 'exposure minimization' scenario, assumed to be the default intervention option to obtain compliance. This paper also aims to (1) quantitatively evaluate the relative environmental significance of primary, secondary and tertiary impacts, and (2) to compare conclusions obtained from attributional and from consequential LCA of the same decision. Main Features. An attributional LCA (ALCA) and a consequential LCA (CLCA) are used to compare the two radically different intervention options. The rehabilitation for residential redevelopment scenario involves 'dig and dump' remediation, infrastructure material recycling and site backfilling. The 'exposure minimization' scenario consists in covering the site with clean soil and subsequently idling the site. The functional unit allowing this comparison is the 'legal and appropriate intervention on 1 ha of the tracked brownfield'. The inventory analyses are done following the proposals in Part 1. The LCIA is done using IMPACT 2002+ method. Results and Conclusions. The ALCA results show no clear preference for either intervention option because of the trade-off between the benefits of decontamination and the impacts of the rehabilitation service system. The CLCA, on the other hand, unequivocally supports rehabilitation if it is followed by residential reuse, as long as the development of suburban sites is avoided. In these cases, tertiary environmental benefits dominate other types of impacts. It is concluded, that, when brownfield intervention decisions can affect the fate of the site, the scope of brownfield management LCA should always be expanded to account for tertiary impacts. Perspectives. The methodology proposed was restricted to a single site and to residential redevelopment. It is suggested that the general approach could be used for other types of brownfield redevelopments and for decisions affecting multiple brownfields.
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