Declarative Modeling methodologies offer the designer the ability to describe a scene using abstract terms instead of precise geometric elements and properties. The price for this convenience is a ...large number of compliant geometric models, only a small subset of which is usually of practical interest for the designer. The task of solution evaluation can be tedious and time-consuming whereas the qualities that make these solutions stand out are not always straightforward. In the current work we outline the integration of a machine learning component, trained by user-approved solutions of previous descriptions, with a reconstruction component, able to discover relations and properties implied by the best solutions, into a unique module for description adaptation according to user preferences.
A new superconducting magnet test facility was created at the MIT Plasma Science and Fusion Center (PSFC) for the SPARC Toroidal Field Model Coil (TFMC) program. The facility was designed and ...constructed in parallel with the TFMC between 2019 and 2021, with capabilities and design approaches tailored to the needs of this project and its time line. The major components of the facility include a new cryostat (outer dimensions, 5.3 m × 3.7 m × 1.5 m) with open bore; a novel cooling system circulating supercritical helium in a closed loop to provide <inline-formula><tex-math notation="LaTeX">\sim</tex-math></inline-formula>600 W cooling power at <inline-formula><tex-math notation="LaTeX">\sim</tex-math></inline-formula>20 bar-a, <inline-formula><tex-math notation="LaTeX">\sim</tex-math></inline-formula>20 K; a 50-kA <inline-formula><tex-math notation="LaTeX">\pm</tex-math></inline-formula> 10-V power supply with supporting nitrogen-cooled high temperature superconductor (HTS) binary current leads operating at record currents, as well as VIPER-cable HTS cold bus; and a new instrumentation and programmable-logic-controller-based control system handling <inline-formula><tex-math notation="LaTeX">\sim</tex-math></inline-formula>650 input and output signals distributed between the facility and the test article. Substantial legacy infrastructure inherited from the PSFC's Alcator C-Mod tokamak program, including liquid nitrogen facilities and 10 MW of ac power, was instrumental in the rapid deployment of these new systems. Immediately after initial commissioning, the facility was used successfully to test the SPARC TFMC, operating the magnet in a campaign achieving 20 T on the coil, as well as a second campaign performing quench testing. The facility has since undergone several upgrades and has been used in campaigns of other test articles, and it is expected that the facility will remain a resource for the community for the foreseeable future to develop fusion magnets and related technology.
Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is
whose the role in the risk of developing DN remains ...questionable. In order to elucidate the contribution of
in DN progression in the context of type 2 diabetes mellitus (T2DM), we conducted an association study and meta-analysis of
genetic variants.
A total of 190 patients with DN, 150 T2DM (type 2 diabetes mellitus) patients without DN and 238 healthy controls were recruited. We selected five tag single-nucleotide polymorphisms (SNPs) from the HapMap. The generalized odds ratio (OR
) was calculated to estimate the risk on DN development. Subgroup analyses based on ethnicity and type of diabetes were also performed.
Both the present association study regarding
SNPs (rs2227667, rs2070682, rs1050813, rs2227690, rs2227692) did not found any significant association between
variants and DN and the meta-analysis of variant 4G>5G (rs1799889) did not also reveal a significant association between 4G>5G variant and DN in main and subgroup analyses.
In conclusion, the present association study and meta-analysis provides strong evidence that
genetic variant 4G>5G is not implicated in the risk or development of DN in Caucasians. Further studies in other populations remain to further investigate the role of this variant in the course of DN.
Somatic mutations in the isocitrate dehydrogenase genes
IDH1
and
IDH2
occur at high frequency in several tumour types. Even though these mutations are confined to distinct hotspots, we show that ...gliomas are the only tumour type with an exceptionally high percentage of IDH1
R132H
mutations. Patients harbouring IDH1
R132H
mutated tumours have lower levels of genome-wide DNA-methylation, and an associated increased gene expression, compared to tumours with other IDH1/2 mutations (“non-R132H IDH1/2 mutations”). This reduced methylation is seen in multiple tumour types and thus appears independent of the site of origin. For 1p/19q non-codeleted glioma (astrocytoma) patients, we show that this difference is clinically relevant: in samples of the randomised phase III CATNON trial, patients harbouring tumours with IDH mutations other than IDH1
R132H
have a better outcome (hazard ratio 0.41, 95% CI 0.24, 0.71,
p
= 0.0013). Such non-R132H IDH1/2-mutated tumours also had a significantly lower proportion of tumours assigned to prognostically poor DNA-methylation classes (
p
< 0.001). IDH mutation-type was independent in a multivariable model containing known clinical and molecular prognostic factors. To confirm these observations, we validated the prognostic effect of IDH mutation type on a large independent dataset. The observation that non-R132H IDH1/2-mutated astrocytomas have a more favourable prognosis than their IDH1
R132H
mutated counterpart indicates that not all IDH-mutations are identical. This difference is clinically relevant and should be taken into account for patient prognostication.
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