| 1. |
- Kanter-Smoler, Gunilla, et al.
(författare)
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Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization
- 2006
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Ingår i: Clin Gastroenterol Hepatol. - : Elsevier BV. - 1542-3565. ; 4:4, s. 499-506
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND & AIMS: Biallelic mutations in the base-excision repair gene MYH have recently been associated with recessive inheritance of multiple colorectal adenomas. An investigation and characterization of MYH mutations in Swedish patients were therefore carried out. METHODS: A set of 15 unrelated adenomatous polyposis coli (APC)-mutation negative patients from the Swedish Polyposis Registry was screened for germline mutations in the MYH gene. The patients were clinically characterized and compared with 43 APC-mutation positive probands diagnosed during the same period. RESULTS: Disease-causing biallelic MYH mutations were identified in 6 patients (40%). The mean age at diagnosis was 47.8 years versus 34.1 years in APC-mutation positive patients (P = .015). Colorectal cancer at diagnosis of polyposis was present in 67% (4/6) of the patients, and all were right-sided, compared with only 19% versus 12.5% right-sided cancer in APC-mutation positive patients. Upper gastrointestinal manifestations were diagnosed in 1 of 5 compared with 23 of 27 in APC-mutation positive patients (odds ratio, 23; 95% confidence interval, 2-263; P = .0086). One family exhibited apparent dominant inheritance of colorectal adenomatous polyposis. Two new pathogenic mutations, MYH p.G175E and p.P391L, were identified. The mutations are argued to introduce profound changes in substrate-recognizing domains of the protein. CONCLUSIONS: Biallelic MYH mutations, including 2 novel mutations, were found in a substantial number of the patients with multiple colorectal adenomas who were negative for APC-mutation. The examined MYH-mutation positive patients were found to have higher risks of colorectal cancer at diagnosis, right-sided location of cancers, and a significantly lower incidence of upper gastrointestinal manifestations, compared with APC-mutation positive patients.
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| 2. |
- Karlsson, Karolina, 1975, et al.
(författare)
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Technical complications following implant-supported restorative therapy performed in Sweden
- 2018
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Ingår i: Clinical Oral Implants Research. - : Wiley. - 0905-7161 .- 1600-0501. ; 29:6, s. 603-611
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveThe aim of this study was to evaluate the occurrence and consequences of technical complications in implant-supported restorative therapy. Material & MethodsThe occurrence and consequences of technical complications in implant-supported restorative therapy over a mean follow-up period of 5.3years were assessed based on documentation in files from 2,666 patients. Risk indicators were identified by the use of survival models, considering repeated events. Results were expressed as hazard ratios (HR) including 95% confidence intervals. ResultsTechnical complications occurred in 24.8% of the patients. Chipping and loss of retention were the most common, affecting 11.0% and 7.9% of supraconstructions, respectively, while implant-related complications (e.g., implant fracture) were rare. More than 50% of the affected patients experienced technical complications more than once and almost all reported complications led to interventions by a dental professional. The extent of the supraconstruction was the strongest risk indicator for both chipping (HR<0.2) and loss of retention (HR>3). ConclusionOver a 5-year period, technical complications in implant-supported restorative therapy occurred frequently and their management required professional intervention.
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| 3. |
- Bergström, Ann-Kristin, et al.
(författare)
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Contrasting plankton stoichiometry and nutrient regeneration in northern arctic and boreal lakes
- 2018
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Ingår i: Aquatic Sciences. - : Springer. - 1015-1621 .- 1420-9055. ; 80:2
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Tidskriftsartikel (refereegranskat)abstract
- Contrasting carbon: nitrogen: phosphorus (C: N: P) stoichiometry between phytoplankton and zooplankton affect consumer growth and phytoplankton nutrient limitation via nutrient recycling by zooplankton. However, no study has assessed how regional differences in terrestrial loadings of organic matter affect plankton N: P stoichiometry and recycling in systems with low N deposition and N-limited phytoplankton. We address this question by using data from 14 unproductive headwater arctic and boreal lakes. We found that boreal lakes had higher lake water-and seston C, N and P concentrations than arctic lakes, whereas seston C: N, C: P and N: P ratios did not differ among regions. Boreal zooplankton were also richer in N and P relative to C, with lower somatic N: P ratios, compared to arctic lakes. Consequently, the estimated N: P imbalances between seston and zooplankton were negative in arctic lakes, indicating zooplankton feeding on phytoplankton of suboptimal N content, resulting in low consumer driven N: P recycling (medians arctic sub-mid and high altitude lakes: 11 and 13). In boreal lakes, estimated N: P imbalance did not differ from zero, with a seston N: P stoichiometry matching the N: P requirements of zooplankton, which resulted in higher consumer driven N: P recycling (median 18). Our results imply that regional climate induced catchment differences, through enhanced terrestrial nutrient inputs, affect plankton stoichiometry by raising consumer N: P recycling ratio and changing zooplankton from being mainly N-(arctic) to NP co-limited (boreal). Browning of lakes, in regions with low N deposition, may therefore promote large-scale regional changes in plankton nutrient limitation with potential feedbacks on pelagic food webs.
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| 4. |
- Bergström, Ann-Kristin, et al.
(författare)
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N-limited consumer growth and low nutrient regeneration N:P ratios in lakes with low N deposition
- 2015
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Ingår i: Ecosphere. - 2150-8925 .- 2150-8925. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Nutrient limitation of primary producers and their consumers can have a large influence on ecosystem productivity. The nature and strength of nutrient limitation is driven both by external factors (e.g., nutrient loading) and internal processes (e.g., consumer-driven nutrient regeneration). Here we present results from a field study in 10 low productive headwater lakes in northern subarctic Sweden, where nitrogen (N) deposition is low and phytoplankton is primarily N-limited. We assessed the carbon:nitrogen:phosphorus (C:N:P) stoichiometry of seston and zooplankton and estimated the N:P ratio of consumer-driven nutrient regeneration. Based on stoichiometric models, the estimated elemental imbalances between seston and zooplankton suggest that zooplankton were mainly N-limited and regenerated nutrients with low N:P ratios (median 11.9, atomic ratio). The predicted N:P regeneration ratios were consistent with results from phytoplankton nutrient limitation bioassays in mid-summer, i.e., the N:P regeneration was predicted to be low when phytoplankton were N-limited, and high when phytoplankton were P-limited. During other seasons, when water discharge was high, nutrient loading from the surrounding catchments apparently had the strongest effect on phytoplankton nutrient limitation. We propose that lakes with higher N:P ratios than the open ocean is an effect of N deposition, that N-limitation of consumers and phytoplankton is further enhanced by low nutrient regeneration N:P ratios, and that in the absence of N deposition, lake and ocean N:P stoichiometry are similar.
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| 5. |
- Bergström, Ann-Kristin, et al.
(författare)
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Nitrogen deposition and warming – effects on phytoplankton nutrient limitation in subarctic lakes
- 2013
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Ingår i: Global Change Biology. - Hoboken, NJ : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 19:8, s. 2557-2568
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to predict the combined effects of enhanced nitrogen (N) deposition and warming on phytoplankton development in high latitude and mountain lakes. Consequently, we assessed, in a series of enclosureexperiments, how lake water nutrient stoichiometry and phytoplankton nutrient limitation varied over the growingseason in 11 lakes situated along an altitudinal/climate gradient with low N-deposition (<1 kg N ha1yr1) in northern subarctic Sweden. Short-term bioassay experiments with N- and P-additions revealed that phytoplankton inhigh-alpine lakes were more prone to P-limitation, and with decreasing altitude became increasingly N- andNP-colimited. Nutrient limitation was additionally most obvious in midsummer. There was also a strong positivecorrelation between phytoplankton growth and water temperature in the bioassays. Although excess nutrients wereavailable in spring and autumn, on these occasions growth was likely constrained by low water temperatures. Theseresults imply that enhanced N-deposition over the Swedish mountain areas will, with the exception of high-alpinelakes, enhance biomass and drive phytoplankton from N- to P-limitation. However, if not accompanied by warming,N-input from deposition will stimulate limited phytoplankton growth due to low water temperatures during largeparts of the growing season. Direct effects of warming, allowing increased metabolic rates and an extension of thegrowing season, seem equally crucial to synergistically enhance phytoplankton development in these lakes.
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| 6. |
- Botling, Johan, et al.
(författare)
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Biomarker Discovery in Non-Small Cell Lung Cancer : Integrating Gene Expression Profiling, Meta-analysis, and Tissue Microarray Validation
- 2013
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Ingår i: Clinical Cancer Research. - 1078-0432 .- 1557-3265. ; 19:1, s. 194-204
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Global gene expression profiling has been widely used in lung cancer research to identify clinically relevant molecular subtypes as well as to predict prognosis and therapy response. So far, the value of these multigene signatures in clinical practice is unclear, and the biologic importance of individual genes is difficult to assess, as the published signatures virtually do not overlap.Experimental Design: Here, we describe a novel single institute cohort, including 196 non-small lung cancers (NSCLC) with clinical information and long-term follow-up. Gene expression array data were used as a training set to screen for single genes with prognostic impact. The top 450 probe sets identified using a univariate Cox regression model (significance level P < 0.01) were tested in a meta-analysis including five publicly available independent lung cancer cohorts (n = 860).Results: The meta-analysis revealed 14 genes that were significantly associated with survival (P < 0.001) with a false discovery rate < 1%. The prognostic impact of one of these genes, the cell adhesion molecule 1 (CADM1), was confirmed by use of immunohistochemistry on tissue microarrays from 2 independent NSCLC cohorts, altogether including 617 NSCLC samples. Low CADM1 protein expression was significantly associated with shorter survival, with particular influence in the adenocarcinoma patient subgroup.Conclusions: Using a novel NSCLC cohort together with a meta-analysis validation approach, we have identified a set of single genes with independent prognostic impact. One of these genes, CADM1, was further established as an immunohistochemical marker with a potential application in clinical diagnostics. Clin Cancer Res; 19(1); 194-204. (c) 2012 AACR.
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| 7. |
- Giesler, Reiner, et al.
(författare)
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Catchment-scale dissolved carbon concentrations and exportestimates across six subarctic streams in northern Sweden
- 2014
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 11:2, s. 525-537
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Tidskriftsartikel (refereegranskat)abstract
- Climatic change is currently enhancing permafrost thawing and the flow of water through the landscape in subarctic and arctic catchments, with major consequences for the carbon export to aquatic ecosystems. We studied stream water carbon export in several tundra-dominated catchments in northern Sweden. There were clear seasonal differences in both dissolved organic carbon (DOC) and dissolved inorganic carbon (DIC) concentrations. The highest DOC concentrations occurred during the spring freshet while the highest DIC concentrations were always observed during winter baseflow conditions for the six catchments considered in this study. Long-term trends for the period 1982 to 2010 for one of the streams showed that DIC concentrations has increased by 9% during the 28 yr of measurement while no clear trend was found for DOC. Similar increasing trends were also found for conductivity, Ca and Mg. When trends were discretized into individual months, we found a significant linear increase in DIC concentrations with time for September, November and December. In these subarctic catchments, the annual mass of C exported as DIC was in the same order of magnitude as DOC; the average proportion of DIC to the total dissolved C exported was 61% for the six streams. Furthermore, there was a direct relationship between total runoff and annual dissolved carbon fluxes for these six catchments. These relationships were more prevalent for annual DIC exports than annual DOC exports in this region. Our results also highlight that both DOC and DIC can be important in high-latitude ecosystems. This is particularly relevant in environments where thawing permafrost and changes to subsurface ice due to global warming can influence stream water fluxes of C. The large proportion of stream water DIC flux also has implications on regional C budgets and needs to be considered in order to understand climate-induced feedback mechanisms across the landscape.
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| 8. |
- Jansson, Mats, et al.
(författare)
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Links between terrestrial primary production and bacterial production and respiration in lakes in a climate gradient in subarctic Sweden
- 2008
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Ingår i: Ecosystems (New York. Print). - : Springer Science and Business Media LLC. - 1432-9840 .- 1435-0629. ; 11, s. 367-376
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Tidskriftsartikel (refereegranskat)abstract
- We compared terrestrial net primary production (NPP) and terrestrial export of dissolved organic carbon (DOC) with lake water heterotrophic bacterial activity in 12 headwater lake catchments along an altitude gradient in subarctic Sweden. Modelled NPP declined strongly with altitude and annual air temperature decreases along the altitude gradient (6ºC between the warmest and the coldest catchment). Estimated terrestrial DOC export to the lakes was closely correlated to NPP. Heterotrophic bacterial production (BP) and respiration (BR) were mainly based on terrestrial organic carbon and strongly correlated with the terrestrial DOC export. Excess respiration over PP of the pelagic system was similar to net emission of CO2 in the lakes. BR and CO2 emission made up considerably higher shares of the terrestrial DOC input in warm lakes than in cold lakes, implying that respiration and the degree of net heterotrophy in the lakes were dependant not only on terrestrial export of DOC, but also on characteristics in the lakes which changed along the gradient and affected the bacterial metabolization of allochthonous DOC. The study showed close links between terrestrial primary production, terrestrial DOC export and bacterial activity in lakes and how these relationships were dependant on air temperature. Increases in air temperature in high latitude unproductive systems might have considerable consequences for lake water productivity and release of CO2 to the atmosphere, which are ultimately determined by terrestrial primary production.
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| 9. |
- Karlsson, Fredrik, 1975-, et al.
(författare)
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Articulatory closure proficiency in Parkinson's disease patients following deep brain stimulation of the subthalamic nucleus and caudal zona incerta.
- 2014
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Ingår i: Journal of Speech, Language and Hearing Research. - 1092-4388 .- 1558-9102. ; 57, s. 1178-1190
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVEThe present study aimed at comparing the effects of deep brain stimulation (DBS) treatment of the subthalamic nucleus (STN) and the caudal zona incerta (cZi) on Parkinson's disease patients' proficiency in achieving oral closure and release during plosive production. METHODS Nineteen patients were evaluated preoperatively and 12 months after DBS surgery. Nine patients were implanted in the STN, seven bilaterally and two unilaterally (left). Ten were bilaterally implanted in the cZi. Postoperative examinations were made off and on stimulation. All patients received simultaneous L-dopa treatment in all conditions. For a series of plosives extracted from a reading passage, absolute and relative measures of duration of frication and amplitude of plosive release were compared between conditions within each treatment group. RESULTS Relative duration of frication increased in voiceless plosives in the on stimulation condition in cZi patients. Similar trends were observed across the data set. Duration of pre-release frication and the release peak prominence increased in voiceless plosives on stimulation for both groups. CONCLUSIONS The increased release prominence suggests that patients achieved a stronger closure gesture due to DBS, but that the increased energy available resulted in increased frication.
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| 10. |
- Karlsson, Fredrik, 1975-, et al.
(författare)
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Control of phonatory onset and offset in Parkinson patients following deep brain stimulation of the subthalamic nucleus and caudal Zona Incerta
- 2012
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Ingår i: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 18:7, s. 824-827
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Tidskriftsartikel (refereegranskat)abstract
- Laryngeal hypokinesia is a common symptom in Parkinson’s disease (PD) that affects quality of life. Deep brain stimulation (DBS) is well recognized as a complementary method for treatment of motor symptoms in PD but the outcomes on patients’ control over phonatory alternation have yet not been clearly elucidated. The present study examined the effect of subthalamic nucleus STN-DBS (n=8, aged 51-72 yrs; median=63 yrs) and caudal Zona incerta cZi-DBS (n=8,aged 49-71 yrs; median=61 yrs) on control of onset and offset of phonation in connected speech. The patients were evaluated in a preoperatively (Med ON, 1.5 times the ordinary Levodopa dose) and 12 months postoperatively (Med ON, ordinary Levodopa dose). The results provided evidence of a progressive reduction in the ability to manifest alternations between voicing and voiceless states in a reading task. Mean proportion produced with inappropriate voicing increased from 47.6% to 55.3% and from 62.9% to 68.6% of the total duration for the two groups of patients between Pre-op and Post-op, Stim OFF evaluations. The medial and final parts of the fricative were more affected than the initial part, indicating an increased voicing lead into the following vowel. We propose that this reduction in phonatory control is be due to either progression of the disease, an effect of reduced Levodopa dosage or a microlesional effect. Patients’ proficiency in alternating between voiced and voiceless states in connected speech remained unaffected by both STN-DBS and cZi-DBS.
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