| 31. |
- Chubb, Daniel, et al.
(författare)
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Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:10, s. 366-1221
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Tidskriftsartikel (refereegranskat)abstract
- To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 individuals with multiple myeloma (cases) and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P = 8.70 x 10(-14)), 6p21.33 (rs2285803, PSORS1C2, P = 9.67 x 10(-11)), 17p11.2 (rs4273077, TNFRSF13B, P = 7.67 x 10(-9)) and 22q13.1 (rs877529, CBX7, P = 7.63 x 10(-16)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition.
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| 32. |
- Danielski, Itai, 1973-, et al.
(författare)
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Air source heat pumps and their role in the Swedish energy system
- 2012
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Ingår i: Support your future today; Turning environmental problems into business opportunities.
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Konferensbidrag (refereegranskat)abstract
- Newly produced air source heat pumps can provide heat energy from outdoor air at temperature as low as -20°C. As a result they could be utilized during most days of the year even in the cold Nordic climates. The drawback of air source heat pumps is the reduction in efficiency as the outdoor air become colder, resulting in lower heat supply in times when it is most needed. Despite its inverse relationship between efficiency and outdoor temperature, air source heat pumps were installed in 57000 detached houses in Sweden during 2010 alone, which is 3% of the total detached houses stock. That makes air source heat pumps the most sold heating technology for detached houses in Sweden during 2010, 1.6 times more than the number of installations of ground source heat pump and 3 times more than the number of connections of detached houses to district heating during the same year. Similar trends can be found in other Nordic countries.This study compares the use of an air source heat pump with other existing commercial technologies in detached houses and analyzes the impacts on primary energy use, on final energy use, on electricity production and on costs benefits for house owners. It was found that converting existing electric heated Swedish detaches houses to district heating with biomass based CHP or bed-rock heat pump could reduce the use of resources, which could benefit Sweden as a society. Converting electric heated Swedish detaches houses to district heating or pellets stove could reduce power demand and level out the power demand load curve. That would benefit utilities of power supply as it could secure power supply. However cost effectiveness in one of most important drivers for house owners of detached houses to choose energy efficiency measures. For that reason house owners may most likely benefit by the installation of air-source heat pumps.
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| 33. |
- Danielski, Itai, 1973-
(författare)
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Energy performance of residential buildings : projecting, monitoring and evaluating
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Energy security and climate change mitigation have been discussed in Sweden since the oil crisis in the 1970s. Sweden has since then increased its share of renewable energy resources to reach the highest level among the EU member states, but is still among the countries with the highest primary energy use per capita. Not least because of that, increasing energy efficiency is important and it is part of the Swedish long term environmental objectives. Large potential for improving energy efficiency can be found in the building sector, mainly in the existing building stock but also in new constructions.Buildings hold high costs for construction, service and maintenance. Still, their energy efficiency and thermal performance are rarely validated after construction or renovation. As energy efficiency become an important aspects in building design there is a need for accurate tools for assessing the energy performance both before and after building construction. In this thesis criteria for energy efficiency in new residential buildings are studied. Several building design aspects are discussed with regards to final energy efficiency, energy supply-demand interactions and social aspects. The results of this thesis are based on energy modelling, energy measurements and one questionnaire survey. Several existing residential buildings were used as case studies.The results show that pre-occupancy calculations of specific final energy demand in residential buildings is too rough an indicator to explicitly steer towards lower final energy use in the building sector. Even post occupancy monitoring of specific final energy demand does not always provide a representative image of the energy efficiency of buildings and may result with large variation among buildings with similar thermal efficiency. A post occupancy method of assessing thermal efficiency of building fabrics using thermography is presented. The thermal efficiency of buildings can be increased by design with low shape factor. The shape factor was found to have a significant effect on the final energy demand of buildings and on the use of primary energy. In Nordic climates, atria in multi-storey apartment buildings is a design that have a potential to increase both energy efficiency (by lower shape factor) and enhance social interactions among the occupants.
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| 34. |
- Danielski, Itai, et al.
(författare)
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Heated atrium in multi-storey apartment buildings, a design with potential to enhance energy efficiency and to facilitate social interactions
- 2016
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Ingår i: Building and Environment. - : Elsevier. - 0360-1323 .- 1873-684X. ; 106, s. 352-364
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Tidskriftsartikel (refereegranskat)abstract
- The design concept of conditioned atria gains increasing popularity in commercial and service buildings all over the world, but is still not a common building design in the residential sector. This study investigates the potential of such design in residential buildings in Nordic climates as means to enhance both energy efficiency as well as social interaction among residents. Energy modelling was used to compare energy efficiency among designs of residential buildings with and without atrium and to identify important design parameters. Social interaction was analysed, based on a survey evaluating the perception of residents living in an existing multi-storey apartment building designed with a heated atrium in the north of Sweden.The results show that heated atrium in Nordic climates have a potential to reduce the total final energy demand while at the same time increase the conditioned space of the building. To positively impact energy efficiency, the atrium should fulfil three requirements: (i) it should be designed to reduce the shape factor for the whole building; (ii) it should have the minimum glazed area that comply with the building requirements concerning natural light and visual comfort; and (iii) adjustable solar shading should be installed in the atrium’s façades to avoid unwanted overheating. The survey results indicate that the additional space created by the atrium has a potential to facilitate and promote social interaction among residents and to increases a sense of neighbourliness and belongingness, which are often discussed as important parameters in relation to social sustainability.
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| 35. |
- Danielski, Itai, et al.
(författare)
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The impact of the shape factor on final energy demand in residential buildings in nordic climates
- 2012
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Ingår i: World Renewable Energy Forum, WREF 2012, Including World Renewable Energy Congress XII and Colorado Renewable Energy Society (CRES) Annual Conference. - 9781622760923 ; , s. 4260-4264
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The shape factor of a building is the ratio between its envelope area and its volume. Buildings with a higher shape factor have a larger surface area in proportion to their volume, which results in larger heat losses in cold climates. This study analyzes the impact of the shape factor on the final energy demand by using five existing apartment buildings with different values of shape factor. Each building was simulated for twelve different scenarios: three thermal envelope scenarios and four climate zones. The differences in shape factor between the buildings were found to have a large impact and accounted for 10%-20% of their final energy demand. The impact of the shape factor was reduced with warmer climates and ceased with average outdoor temperature 11ºC-14ºC depending on the thermal envelope performance of the buildings.
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| 36. |
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| 37. |
- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 38. |
- Di Stazio, Mariateresa, et al.
(författare)
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TBL1Y : a new gene involved in syndromic hearing loss
- 2019
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:3, s. 466-474
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/ total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.
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| 39. |
- Dimopoulos, Meletios A., et al.
(författare)
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Safety and efficacy of pomalidomide plus low-dose dexamethasone in STRATUS (MM-010) : A phase 3b study in refractory multiple myeloma
- 2016
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 128:4, s. 497-503
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Tidskriftsartikel (refereegranskat)abstract
- Patients with relapsed and/or refractory multiple myeloma (RRMM) have poor prognosis. The STRATUS study assessed safety and efficacy of pomalidomide plus low-dose dexamethasone in the largest cohort to date of patients with RRMM. Patients who failed treatment with bortezomib and lenalidomide and had adequate prior alkylator therapy were eligible. Pomalidomide 4 mg was given on days 1-21 of 28-day cycles with low-dose dexamethasone 40 mg (20 mg for patients aged >75 years) on days 1, 8, 15, and 22 until progressive disease or unacceptable toxicity. Safety was the primary end point; secondary end points included overall response rate (ORR), duration of response (DOR), progression-free survival (PFS), and overall survival (OS). Among 682 patients enrolled, median age was 66 years, and median time since diagnosis was 5.3 years. Median number of prior regimens was 5. Most patients were refractory to both lenalidomide and bortezomib (80.2%). Median follow-up was 16.8 months; median duration of treatment was 4.9 months. Most frequent grade 3/4 treatment-emergent adverse events were hematologic (neutropenia [49.7%], anemia [33.0%], and thrombocytopenia [24.1%]). Most common grade 3/4 nonhematologic toxicities were pneumonia (10.9%) and fatigue (5.9%). Grade 3/4 venous thromboembolism and peripheral neuropathy were rare (1.6% each). The ORR was 32.6%, and the median DOR was 7.4 months. Median PFS and OS were 4.6 months and 11.9 months, respectively. We present the largest trial to date evaluating pomalidomide plus low-dose dexamethasone in patients with RRMM, further confirming that this regimen offers clinically meaningful benefit and is generally well tolerated. www.Clinicaltrials.gov identifier NCT01712789.
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| 40. |
- Elefante, Arianna, et al.
(författare)
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Detecting beam offsets in laser welding of closed-square-butt joints by wavelet analysis of an optical process signal
- 2019
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Ingår i: Optics and Laser Technology. - : Elsevier BV. - 0030-3992 .- 1879-2545. ; 109, s. 178-185
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Tidskriftsartikel (refereegranskat)abstract
- Robotized laser beam welding of closed-square-butt joints is sensitive to the positioning of the laser beam with respect to the joint since even a small offset may result in a detrimental lack of sidewall fusion. An evaluation of a system using a photodiode aligned coaxial to the processing laser beam confirms the ability to detect variations of the process conditions, such as when there is an evolution of an offset between the laser beam and the joint. Welding with different robot trajectories and with the processing laser operating in both continuous and pulsed mode provided data for this evaluation. The detection method uses wavelet analysis of the photodetector signal that carries information of the process condition revealed by the plasma plume optical emissions during welding. This experimental data have been evaluated offline. The results show the potential of this detection method that is clearly beneficial for the development of a system for welding joint tracking.
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