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- Moghadasi, Setareh, et al.
(författare)
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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- 2018
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Ingår i: Journal of Medical Genetics. - : BMJ PUBLISHING GROUP. - 0022-2593 .- 1468-6244. ; 55:1, s. 15-20
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Tidskriftsartikel (refereegranskat)abstract
- Background: We previously showed that the BRCA1 variant c. 5096G> A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1* R1699Q carriers.Methods: Data were collected from 129 BRCA1* R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions.Results: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83).Conclusion: O ur results confirm that BRCA1* R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingooophorectomy should be considered based on family history.
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- Rodriguez-Palmero, Agusti, et al.
(författare)
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DLG4-related synaptopathy : a new rare brain disorder
- 2021
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899
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Tidskriftsartikel (refereegranskat)abstract
- PurposePostsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.ResultsThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.ConclusionThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.
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- Moghadasi, Ramin, et al.
(författare)
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Determining Gas Re-Mobilization and Critical Saturation : From Field Scale CO2 Injection Experiments to Pore-Scale Modelling
- 2022
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Ingår i: Proceedings of the 16th Greenhouse Gas Control Technologies Conference (GHGT-16) 23-24 Oct 2022. - : Greenhouse Gas Control Technologies (GHGT).
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Konferensbidrag (refereegranskat)abstract
- Residual trapping is a key mechanism in geological CO2 storage, which is quantitively characterized by residual gas saturation (Sgr). Remobilization of residually trapped CO2 can occur during pressure depletion, which can take place due to dissipation of near wellbore pressure build-up or any type of leakage. The occurrence of remobilization is characterized quantitively by critical gas saturation (Sgc). In this study, we present the first ever field-scale observations of trapped gas remobilization in the context of CO2 storage. We then present the preliminary results from pore-network modelling (PNM) study using a 3D network constructed from a series of X-ray computed tomography (CT) on Heletz sandstone. Our findings provide a multi-scale insight into the remobilization process in the context of CO2 storage and outline future work in terms of modelling the process to achieve a better assessment of stability of CO2 residual trapping in long-terms.
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- Moghadasi, Ramin, et al.
(författare)
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Determining residual gas remobilization and critical saturation in geological CO2 storage by pore-scale modelling
- 2022
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Remobilization of residually trapped CO2 as a result of pressure depletion occurs inherently at the pore-scale but affects the long-term stability of the residual trapping of CO2 at larger scales. In this study, pore-network modelling (PNM) is used to investigate this phenomenon under pressure depletion conditions. 3D networks of Bentheimer and Heletz sandstone as well as statistically generated generic 2D and 3D networks are used. The gas remobilization does occur at a higher gas saturation than residual saturation, so-called critical saturation. The difference is denoted as mobilization saturation, which varies according to the network properties (e.g., dimensionality) and the processes/mechanisms involved. Slightly smaller values are obtained for 3D networks due to the higher order of geometric connectivity between the pores and the effects of gravity. Regardless of the network types and properties, Ostwald ripening tends to slightly increase the mobilization saturation, thereby enhancing the security of residual trapping. Moreover, a significant hysteresis and reduction in gas relative permeability is observed during the depletion process, implying slow reconnection of the trapped gas clusters. These observations are safety enhancing features, due to which the remobilization of the residual trapped CO2 is delayed. The results, which are consistent with our previous analysis of field-scale Heletz experiments, have important implications for underground gas and CO2 storage. In the context of geological CO2 storage, they provide important insights into the fate of residual trapping in both the short and long term.
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- Moghadasi, Ramin, et al.
(författare)
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Pore-scale characterization of residual gas remobilization in CO2 geological storage
- 2023
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Ingår i: Advances in Water Resources. - : Elsevier. - 0309-1708 .- 1872-9657. ; 179
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Tidskriftsartikel (refereegranskat)abstract
- A decrease in reservoir pressure can lead to remobilization of residually trapped CO2. In this study, the pore-scale processes related to trapped CO2 remobilization under pressure depletion were investigated with the use of highresolution 3D X-ray microtomography. The distribution of CO2 in the pore space of Bentheimer sandstone was measured after waterflooding at a fluid pressure of 10 MPa, and then at pressures of 8, 6 and 5 MPa. At each stage CO2 was produced, implying that swelling of the gas phase and exsolution allowed the gas to reconnect and flow. After production, the gas reached a new position of equilibrium where it may be trapped again. At the end of the experiment, we imaged the sample again after 30 hours. Firstly, the results showed that an increase in saturation beyond the residual value was required to remobilize the gas, which is consistent with earlier field-scale results. Additionally, Ostwald ripening and continuing exsolution lead to a significant change in fluid saturation: transport of dissolved gas in the aqueous phase to equilibriate capillary pressure led to reconnection of the gas and its flow upwards under gravity. The implications for CO2 storage are discussed: an increase in saturation beyond the residual value is required to mobilize the gas, but Ostwald ripening can allow local reconnection of hitherto trapped gas, thus enhancing migration and may reduce the amount of CO2 that can be capillary trapped in storage operations.
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- Moghadasi, Ramin, et al.
(författare)
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Pore-scale characterization of residual phase remobilization in geological CO2 storage using X-ray microtomography and pore-network modelling
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- In this study, the pore-scale characteristics of trapped CO2 remobilization under pressure depletion conditions were studied with the use of 3D X-ray microtomography and pore-network modelling. Three-dimensional X-ray microtomographic images of a sandstone sample with a voxel size of 3.83 mm were acquired from which a pore network was extracted. Experimental results show that trapped CO2 remobilization during pressure depletion is an intermittent process in nature, due to which the CO2 relative permeability is significantly reduced. This serves as a safety enhancing feature as it delays CO2 remobilization and migration. Ostwald ripening plays a significant role in the CO2 phase redistribution, which could potentially lead to remobilization even in the absence of pressure depletion. According to the pore network simulation results, weakly wetting conditions enhances the reconnection of the trapped CO2 ganglia, which in turn promotes the remobilization of the trapped phase. The simulation and experimental results agree in terms of the saturation increment needed to remobilize the CO2 – approximately 0.06 – and the pressure at which the CO2 connects – around 7 MPa. The findings of the current study provide valuable insights into the pore-scale aspects of trapped phase remobilization, a phenomenon that affects the fate of CO2 residual trapping in both the short and long term.
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