| 1. |
- Chomutare, Taridzo, et al.
(author)
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Combining deep learning and fuzzy logic to predict rare ICD-10 codes from clinical notes
- 2022
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In: Proceedings - 2022 IEEE International Conference on Digital Health (ICDH 2022). - Piscataway : IEEE. - 9781665481496 ; , s. 163-168
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Conference paper (peer-reviewed)abstract
- Computer assisted coding (CAC) of clinical text into standardized classifications such as ICD-10 is an important challenge. For frequently used ICD-10 codes, deep learning approaches have been quite successful. For rare codes, however, the problem is still outstanding. To improve performance for rare codes, a pipeline is proposed that takes advantage of the ICD-10 code hierarchy to combine semantic capabilities of deep learning and the flexibility of fuzzy logic. The data used are discharge summaries in Swedish in the medical speciality of gastrointestinal diseases. Using our pipeline, fuzzy matching computation time is reduced and accuracy of the top 10 hits of the rare codes is also improved. While the method is promising, further work is required before the pipeline can be part of a usable prototype. Code repository: https://github.com/icd-coding/zeroshot.
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| 2. |
- Chon-Torres, Octavio Alfonso, et al.
(author)
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Astrobiocentrism : Reflections on challenges in the transition to a vision of life and humanity in space
- 2024
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In: International Journal of Astrobiology. - : Cambridge University Press. - 1473-5504 .- 1475-3006. ; 23:e6, s. 1-17
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Journal article (peer-reviewed)abstract
- Astrobiocentrism is a vision that places us in a scenario of confirmation of life in the universe, either as a second genesis or as an expansion of humanity in space. It manages to raise consistent arguments in relation to questions such as what would happen to knowledge if life were confirmed in the universe, how would this change the way we understand our place in the cosmos? Astrobiocentrism raises a series of reflections in the context of confirmed discovery, and it develops concepts that work directly with what would happen after irrefutable evidence has been obtained that we are not alone in space. Unlike biocentrism or ecocentrism, the astrobiocentric view is not limited to the Earth-centric perspective, and for it incorporates a multi-, inter- and transdisciplinary understanding. Therefore, the aim of this paper is to make a reflection on the astrobiocentric issues related to the challenges and problems of the discovery of life in the universe and the expansion of mankind into space. Here we explore some aspects of the transition from biogeocentrism to astrobiocentrism, astrobiosemiotics, homo mensura, moral community, planetary sustainability and astrotheology.
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| 3. |
- Coenen, J. W., et al.
(author)
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Long-term evolution of the impurity composition and impurity events with the ITER-like wall at JET
- 2013
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In: Nuclear Fusion. - : IOP Publishing. - 0029-5515 .- 1741-4326. ; 53:7, s. 073043-
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Journal article (peer-reviewed)abstract
- This paper covers aspects of long-term evolution of intrinsic impurities in the JET tokamak with respect to the newly installed ITER-like wall (ILW). At first the changes related to the change over from the JET-C to the JET-ILW with beryllium (Be) as the main wall material and tungsten (W) in the divertor are discussed. The evolution of impurity fluxes in the newly installed W divertor with respect to studying material migration is described. In addition, a statistical analysis of transient impurity events causing significant plasma contamination and radiation losses is shown. The main findings comprise a drop in carbon content (x20) (see also Brezinsek et al (2013 J. Nucl. Mater. 438 S303)), low oxygen content (x10) due to the Be first wall (Douai et al 2013 J. Nucl. Mater. 438 S1172-6) as well as the evolution of the material mix in the divertor. Initially, a short period of repetitive ohmic plasmas was carried out to study material migration (Krieger et al 2013 J. Nucl. Mater. 438 S262). After the initial 1600 plasma seconds the material surface composition is, however, still evolving. With operational time, the levels of recycled C are increasing slightly by 20% while the Be levels in the deposition-dominated inner divertor are dropping, hinting at changes in the surface layer material mix made of Be, C and W. A steady number of transient impurity events, consisting of W and constituents of inconel, is observed despite the increase in variation in machine operation and changes in magnetic configuration as well as the auxiliary power increase.
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| 4. |
- Sastre, Danuta, et al.
(author)
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Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease
- 2023
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In: Scientific Reports. - 2045-2322. ; 13:1
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Journal article (peer-reviewed)abstract
- Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, but no disease modifying therapies have been successful in clinical translation presenting a major unmet medical need. A promising target is alpha-synuclein or its aggregated form, which accumulates in the brain of PD patients as Lewy bodies. While it is not entirely clear which alpha-synuclein protein species is disease relevant, mere overexpression of alpha-synuclein in hereditary forms leads to neurodegeneration. To specifically address gene regulation of alpha-synuclein, we developed a CRISPR interference (CRISPRi) system based on the nuclease dead S. aureus Cas9 (SadCas9) fused with the transcriptional repressor domain Krueppel-associated box to controllably repress alpha-synuclein expression at the transcriptional level. We screened single guide (sg)RNAs across the SNCA promoter and identified several sgRNAs that mediate downregulation of alpha-synuclein at varying levels. CRISPRi downregulation of alpha-synuclein in iPSC-derived neuronal cultures from a patient with an SNCA genomic triplication showed functional recovery by reduction of oxidative stress and mitochondrial DNA damage. Our results are proof-of-concept in vitro for precision medicine by targeting the SNCA gene promoter. The SNCA CRISPRi approach presents a new model to understand safe levels of alpha-synuclein downregulation and a novel therapeutic strategy for PD and related alpha-synucleinopathies.
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| 5. |
- Tan, Xiao, et al.
(author)
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Associations between chronotype, MTNR1B genotype and risk of type 2 diabetes in UK Biobank
- 2020
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In: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 287:2, s. 189-196
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Journal article (peer-reviewed)abstract
- ObjectiveTo examine the association between the MTNR1B G risk allele, type 2 diabetes (T2D) and chronotype in the UK Biobank.MethodsData from the baseline investigation of the UK Biobank were utilized (n = 337 083 White British; mean age: 56.9 years; 54% women). MTNR1B rs10830963 was directly genotyped [CC (reference group), CG and GG]. Chronotype was divided into four categories: definitely morning (reference group); more morning than evening; more evening than morning; and definitely evening. Logistic regression analyses were performed to estimate odds ratios and 95% confidence intervals (CIs) for T2D, controlling for age, sex and other confounders.ResultsCarriers of the rs10830963 risk allele had a higher risk of T2D [CG vs. CC: OR (95% CI) 1.10 (1.07, 1.15); GG vs. CC: 1.21 (1.14, 1.29)]. Compared with definitely morning chronotype, participants with definitely evening chronotype exhibited the highest risk of T2D [1.25 (1.17, 1.33)]. Despite a nonsignificant interaction between chronotype and the risk allele [0.98 (0.94, 1.01), P = 0.176 for interaction term], we found that definitely evening chronotype (vs. definitely morning) was linked with a higher risk of T2D amongst CC and CG but not GG carriers. Additionally, we saw that the GG genotype (vs. CC) was associated with a higher risk of T2D across all chronotype categories, except for definitely evening.ConclusionOur findings suggest that the MTNR1B G risk allele and late chronotype increase the risk of T2D. The association between late chronotype and higher risk of T2D appears to vary across MTNR1B rs10830963 genotypes.
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