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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 Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration.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, 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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- Khodabandeh, E., et al.
(författare)
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CFD study of non-premixed swirling burners : Effect of turbulence models
- 2020
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Ingår i: Chinese Journal of Chemical Engineering. - : Elsevier BV. - 1004-9541 .- 2210-321X. ; 28:4, s. 1029-1038
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Tidskriftsartikel (refereegranskat)abstract
- This research investigates a numerical simulation of swirling turbulent non-premixed combustion. The effects on the combustion characteristics are examined with three turbulence models: namely as the Reynolds stress model, spectral turbulence analysis and Re-Normalization Group. In addition, the P-1 and discrete ordinate (DO) models are used to simulate the radiative heat transfer in this model. The governing equations associated with the required boundary conditions are solved using the numerical model. The accuracy of this model is validated with the published experimental data and the comparison elucidates that there is a reasonable agreement between the obtained values from this model and the corresponding experimental quantities. Among different models proposed in this research, the Reynolds stress model with the Probability Density Function (PDF) approach is more accurate (nearly up to 50%) than other turbulent models for a swirling flow field. Regarding the effect of radiative heat transfer model, it is observed that the discrete ordinate model is more precise than the P-1 model in anticipating the experimental behavior. This model is able to simulate the subcritical nature of the isothermal flow as well as the size and shape of the internal recirculation induced by the swirl due to combustion.
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- Niemi, Auli, et al.
(författare)
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Characterizing CO2 residual trapping in-situ by means of single-well push-pull experiments at Heletz, Israel, pilot injection site : experimental procedures and results of the experiments
- 2020
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Ingår i: International Journal of Greenhouse Gas Control. - : Elsevier BV. - 1750-5836 .- 1878-0148. ; 101
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Tidskriftsartikel (refereegranskat)abstract
- Two dedicated field experiments have been carried out at the Heletz, Israel pilot CO2 injection site. The objective has been to quantify the CO2 residual trapping in-situ, based on two distinctly different methods. Both experiments are based on the principle of a combination of hydraulic, thermal and/or tracer tests before and after creating the residually trapped zone of CO2 and using the difference in the responses of these tests to estimate the in-situ residual trapping. In Residual Trapping Experiment I (RTE I), carried out in autumn 2016, the main characterization test before and after the creation of the residually trapped zone were hydraulic withdrawal tests. In this experiment, the residually trapped zone was also created by fluid withdrawal, by first injecting CO2, then withdrawing fluids until CO2 was at residual saturation. The second experiment, Residual Trapping Experiment II (RTE II), was carried out autumn 2017. In this experiment, the residually trapped CO2 zone was created by CO2 injection, followed by the injection of CO2-saturated water, to push away the mobile CO2 and leave the residually trapped CO2 behind. In this test, the main reference test carried out before and after creating the residually trapped zone was injection and recovery of gas partitioning tracer Krypton. This paper presents the experimental procedures and results of these experiments. A hydraulic withdrawal test as a characterization method was robust and gave a clear signal. Given the difficulties in injecting water optimally saturated with CO2, in order not to dissolve the residually trapped CO2 or to create situations with excess mobile gas, withdrawal test may also be a generally preferable hydraulic testing method, in comparison to injection. The limitation of any hydraulic test is that it only gives an averaged value over the test section. At Heletz additional information about CO2 distribution was obtained based on thermal measurements and by monitoring the pressure difference between the two sensors in the bolehole. The latter could be used to estimate the amount of mobile CO2 in the well test section. Tracer experiments with gas partitioning tracers can in principle give more detailed information of CO2 residual distribution in the reservoir than hydraulic tests can, but are also far more complicated to carry out, involving sophisticated and sensitive equipment. In the Heletz case the optimal injection of CO2-saturated water turned out to be difficult to achieve. Creating the zone of residual saturation by means of fluid withdrawal rather than by injecting CO2-saturated water seemed a more robust approach. Monitoring the gas contents in the test interval gave good guidance on the state of the system. Model interpretations of the two experiments to obtain values for CO2 residual saturation are presented in companion papers in this same Special Edition.
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