| 1. |
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| 2. |
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| 3. |
- Ballan, M., et al.
(författare)
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Nuclear physics midterm plan at Legnaro National Laboratories (LNL)
- 2023
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Ingår i: European Physical Journal Plus. - 2190-5444. ; 138:8, s. 3-26
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Tidskriftsartikel (refereegranskat)abstract
- The next years will see the completion of the radioactive ion beam facility SPES (Selective Production of Exotic Species) and the upgrade of the accelerators complex at Istituto Nazionale di Fisica Nucleare – Legnaro National Laboratories (LNL) opening up new possibilities in the fields of nuclear structure, nuclear dynamics, nuclear astrophysics, and applications. The nuclear physics community has organised a workshop to discuss the new physics opportunities that will be possible in the near future by employing state-of-the-art detection systems. A detailed discussion of the outcome from the workshop is presented in this report.
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| 4. |
- Nguyen, Thanh N, et al.
(författare)
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Global Impact of the COVID-19 Pandemic on Stroke Volumes and Cerebrovascular Events: A 1-Year Follow-up.
- 2023
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Ingår i: Neurology. - 1526-632X. ; 100:4
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Tidskriftsartikel (refereegranskat)abstract
- Declines in stroke admission, IV thrombolysis (IVT), and mechanical thrombectomy volumes were reported during the first wave of the COVID-19 pandemic. There is a paucity of data on the longer-term effect of the pandemic on stroke volumes over the course of a year and through the second wave of the pandemic. We sought to measure the effect of the COVID-19 pandemic on the volumes of stroke admissions, intracranial hemorrhage (ICH), IVT, and mechanical thrombectomy over a 1-year period at the onset of the pandemic (March 1, 2020, to February 28, 2021) compared with the immediately preceding year (March 1, 2019, to February 29, 2020).We conducted a longitudinal retrospective study across 6 continents, 56 countries, and 275 stroke centers. We collected volume data for COVID-19 admissions and 4 stroke metrics: ischemic stroke admissions, ICH admissions, IVT treatments, and mechanical thrombectomy procedures. Diagnoses were identified by their ICD-10 codes or classifications in stroke databases.There were 148,895 stroke admissions in the 1 year immediately before compared with 138,453 admissions during the 1-year pandemic, representing a 7% decline (95% CI [95% CI 7.1-6.9]; p < 0.0001). ICH volumes declined from 29,585 to 28,156 (4.8% [5.1-4.6]; p < 0.0001) and IVT volume from 24,584 to 23,077 (6.1% [6.4-5.8]; p < 0.0001). Larger declines were observed at high-volume compared with low-volume centers (all p < 0.0001). There was no significant change in mechanical thrombectomy volumes (0.7% [0.6-0.9]; p = 0.49). Stroke was diagnosed in 1.3% [1.31-1.38] of 406,792 COVID-19 hospitalizations. SARS-CoV-2 infection was present in 2.9% ([2.82-2.97], 5,656/195,539) of all stroke hospitalizations.There was a global decline and shift to lower-volume centers of stroke admission volumes, ICH volumes, and IVT volumes during the 1st year of the COVID-19 pandemic compared with the prior year. Mechanical thrombectomy volumes were preserved. These results suggest preservation in the stroke care of higher severity of disease through the first pandemic year.This study is registered under NCT04934020.
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| 5. |
- Böhm, Johann, et al.
(författare)
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
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Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
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Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
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| 6. |
- Bell, Taylor, et al.
(författare)
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Nightside clouds and disequilibrium chemistry on the hot Jupiter WASP-43b
- 2024
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Ingår i: Nature Astronomy. - 2397-3366. ; 8:7, s. 879-898
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Tidskriftsartikel (refereegranskat)abstract
- Hot Jupiters are among the best-studied exoplanets, but it is still poorly understood how their chemical composition and cloud properties vary with longitude. Theoretical models predict that clouds may condense on the nightside and that molecular abundances can be driven out of equilibrium by zonal winds. Here we report a phase-resolved emission spectrum of the hot Jupiter WASP-43b measured from 5 μm to 12 μm with the JWST’s Mid-Infrared Instrument. The spectra reveal a large day–night temperature contrast (with average brightness temperatures of 1,524 ± 35 K and 863 ± 23 K, respectively) and evidence for water absorption at all orbital phases. Comparisons with three-dimensional atmospheric models show that both the phase-curve shape and emission spectra strongly suggest the presence of nightside clouds that become optically thick to thermal emission at pressures greater than ~100 mbar. The dayside is consistent with a cloudless atmosphere above the mid-infrared photosphere. Contrary to expectations from equilibrium chemistry but consistent with disequilibrium kinetics models, methane is not detected on the nightside (2σ upper limit of 1–6 ppm, depending on model assumptions). Our results provide strong evidence that the atmosphere of WASP-43b is shaped by disequilibrium processes and provide new insights into the properties of the planet’s nightside clouds. However, the remaining discrepancies between our observations and our predictive atmospheric models emphasize the importance of further exploring the effects of clouds and disequilibrium chemistry in numerical models.
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| 7. |
- Concepcion Gil-Rodriguez, Maria, et al.
(författare)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
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Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
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Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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| 8. |
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| 9. |
- Keasar, Chen, et al.
(författare)
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An analysis and evaluation of the WeFold collaborative for protein structure prediction and its pipelines in CASP11 and CASP12
- 2018
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Ingår i: Scientific Reports. - : NATURE PUBLISHING GROUP. - 2045-2322. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Every two years groups worldwide participate in the Critical Assessment of Protein Structure Prediction (CASP) experiment to blindly test the strengths and weaknesses of their computational methods. CASP has significantly advanced the field but many hurdles still remain, which may require new ideas and collaborations. In 2012 a web-based effort called WeFold, was initiated to promote collaboration within the CASP community and attract researchers from other fields to contribute new ideas to CASP. Members of the WeFold coopetition (cooperation and competition) participated in CASP as individual teams, but also shared components of their methods to create hybrid pipelines and actively contributed to this effort. We assert that the scale and diversity of integrative prediction pipelines could not have been achieved by any individual lab or even by any collaboration among a few partners. The models contributed by the participating groups and generated by the pipelines are publicly available at the WeFold website providing a wealth of data that remains to be tapped. Here, we analyze the results of the 2014 and 2016 pipelines showing improvements according to the CASP assessment as well as areas that require further adjustments and research.
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| 10. |
- Krishnan, U., et al.
(författare)
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The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia-tracheoesophageal fistula
- 2023
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Ingår i: Nature Reviews Gastroenterology & Hepatology. - 1759-5045. ; 20, s. 735-755
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Tidskriftsartikel (refereegranskat)abstract
- Oesophageal atresia-tracheoesophageal fistula (EA-TEF) is a common congenital digestive disease. Patients with EA-TEF face gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life issues in childhood, adolescence and adulthood. Although consensus guidelines exist for the management of gastrointestinal, nutritional, surgical and respiratory problems in childhood, a systematic approach to the care of these patients in adolescence, during transition to adulthood and in adulthood is currently lacking. The Transition Working Group of the International Network on Oesophageal Atresia (INoEA) was charged with the task of developing uniform evidence-based guidelines for the management of complications through the transition from adolescence into adulthood. Forty-two questions addressing the diagnosis, treatment and prognosis of gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life complications that patients with EA-TEF face during adolescence and after the transition to adulthood were formulated. A systematic literature search was performed based on which recommendations were made. All recommendations were discussed and finalized during consensus meetings, and the group members voted on each recommendation. Expert opinion was used when no randomized controlled trials were available to support the recommendation. The list of the 42 statements, all based on expert opinion, was voted on and agreed upon. Currently, systematic care for adults and adolescents with oesophageal atresia-tracheoesophageal fistula (EA-TEF) as they transition into adulthood is lacking. A multidisciplinary group of experts structured this Consensus Statement offering guidelines for the care of adolescents and adults with EA-TEF during transition.
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| 11. |
- Bationo, C. S., et al.
(författare)
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Spatio-temporal analysis and prediction of malaria cases using remote sensing meteorological data in Diébougou health district, Burkina Faso, 2016–2017
- 2021
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Ingår i: Scientific Reports. - : Nature Research. - 2045-2322. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Malaria control and prevention programs are more efficient and cost-effective when they target hotspots or select the best periods of year to implement interventions. This study aimed to identify the spatial distribution of malaria hotspots at the village level in Diébougou health district, Burkina Faso, and to model the temporal dynamics of malaria cases as a function of meteorological conditions and of the distance between villages and health centres (HCs). Case data for 27 villages were collected in 13 HCs. Meteorological data were obtained through remote sensing. Two synthetic meteorological indicators (SMIs) were created to summarize meteorological variables. Spatial hotspots were detected using the Kulldorf scanning method. A General Additive Model was used to determine the time lag between cases and SMIs and to evaluate the effect of SMIs and distance to HC on the temporal evolution of malaria cases. The multivariate model was fitted with data from the epidemic year to predict the number of cases in the following outbreak. Overall, the incidence rate in the area was 429.13 cases per 1000 person-year with important spatial and temporal heterogeneities. Four spatial hotspots, involving 7 of the 27 villages, were detected, for an incidence rate of 854.02 cases per 1000 person-year. The hotspot with the highest risk (relative risk = 4.06) consisted of a single village, with an incidence rate of 1750.75 cases per 1000 person-years. The multivariate analysis found greater variability in incidence between HCs than between villages linked to the same HC. The time lag that generated the better predictions of cases was 9 weeks for SMI1 (positively correlated with precipitation variables) and 16 weeks for SMI2 (positively correlated with temperature variables. The prediction followed the overall pattern of the time series of reported cases and predicted the onset of the following outbreak with a precision of less than 3 weeks. This analysis of malaria cases in Diébougou health district, Burkina Faso, provides a powerful prospective method for identifying and predicting high-risk areas and high-transmission periods that could be targeted in future malaria control and prevention campaigns.
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| 12. |
- Demol, P., et al.
(författare)
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Improved many-body expansions from eigenvector continuation
- 2020
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Ingår i: Physical Review C. - 2469-9985 .- 2469-9993. ; 101:4
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Tidskriftsartikel (refereegranskat)abstract
- Quantum many-body theory has witnessed tremendous progress in various fields, ranging from atomic and solid-state physics to quantum chemistry and nuclear structure. Due to the inherent computational burden linked to the ab initio treatment of microscopic fermionic systems, it is desirable to obtain accurate results through low-order perturbation theory. In atomic nuclei, however, effects such as strong short-range repulsion between nucleons can spoil the convergence of the expansion and make the reliability of perturbation theory unclear. Mathematicians have devised an extensive machinery to overcome the problem of divergent expansions by making use of so-called resummation methods. In large-scale many-body applications, such schemes are often of limited use since no a priori analytical knowledge of the expansion is available. We present here eigenvector continuation as an alternative resummation tool that is both efficient and reliable because it is based on robust and simple mathematical principles.
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| 13. |
- Hakonen, Aron, 1970, et al.
(författare)
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Hand-Held Femtogram Detection of Hazardous Picric Acid with Hydrophobic Ag Nanopillar SERS Substrates and Mechanism of Elasto-Capillarity
- 2017
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Ingår i: ACS Sensors. - : American Chemical Society (ACS). - 2379-3694. ; 2:2, s. 198-202
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Tidskriftsartikel (refereegranskat)abstract
- Picric acid (PA) is a severe environmental and security risk due to its unstab e, toxic, and explosive properties. It is also challenging to detect in trace amounts and in situ because of its highly acidic and anionic character. Here, we assess sensing of PA under nonlaboratory conditions using surface-enhanced Raman scattering (SERS) silver nanopillar substrates and handheld Raman spectroscopy equipment. The advancing elasto-capillarity effects are explained by molecular dynamics simulations. We obtain a SERS PA detection limit on the order of 20 ppt, corresponding attomole amounts, which together with the simple analysis methodology demonstrates that the presented approach is highly competitive for ultrasensitive analysis in the field.
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| 14. |
- Konda, Srinivasa Rao, et al.
(författare)
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Influence of embedded NiO-nanoparticles on the nonlinear absorption of tungsten disulfide nanolayers
- 2023
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Ingår i: Optical materials (Amsterdam). - : Elsevier. - 0925-3467 .- 1873-1252. ; 138
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Tidskriftsartikel (refereegranskat)abstract
- 2D transition metal dichalcogenides possess fascinating properties due to their direct bandgap, strong spin-orbit coupling, and promising electronic/mechanical properties. In this work, we synthesized pure tungsten disulfide (WS2) nanolayers and NiO nanoparticles (NPs) decorated in few-layered WS2 and measured the third-order nonlinear optical properties using femtosecond Z-scan measurements. The open aperture Z-scan data illustrated that the inclusion of NiO nanoparticles into the WS2 layers increases the nonlinear absorption at 800 and 400 nm wavelengths. Furthermore, we observed the switchability of the nonlinear absorption from saturable absorption to two-photon absorption or reverse saturable absorption by changing the pump intensity. Thus, the embedded NiO NPs played a crucial role in the variation of intensity-dependent nonlinear absorption mechanism of WS2 nanolayers and thus can be helpful for various optical applications such as laser pulse compression and optical limiting to prevent over-exposure of protective photosensitive sensors by intense ultrashort laser pulses.
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| 15. |
- Stuiver, M., et al.
(författare)
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The Governance of Multi-Use Platforms at Sea for Energy Production and Aquaculture: Challenges for Policy Makers in European Seas
- 2016
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Ingår i: Sustainability. - : MDPI AG. - 2071-1050. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- European seas are encountering an upsurge in competing marine activities and infrastructures. Traditional exploitation such as fisheries, tourism, transportation, and oil production are accompanied by new sustainable economic activities such as offshore windfarms, aquaculture, and tidal and wave energy. One proposed solution to overcome possible competing claims at sea lies in combining these economic activities as part of Multi-Use Platforms at Sea (MUPS). MUPS can be understood as areas at sea, designated for a combination of activities, either completely integrated in a platform or in shared marine space. MUPS can potentially benefit from each other in terms of infrastructure, maintenance, etc. Developing MUPS in the marine environment demands adequate governance. In this article, we investigate four European sites to find out how governance arrangements may facilitate or complicate MUPs. In particular, we apply a framework specifying policy, economic, social, technical, environmental, and legal (PESTEL) factors to explore governance arrangements in four case study sites in different sea basins around Europe ( the Mediterranean Sea, the Atlantic Ocean, the North Sea, and the Baltic Sea). The article concludes with policy recommendations on a governance regime for facilitating the development of MUPS in the future.
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| 19. |
- Mörén, Lina, 1985-, et al.
(författare)
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Metabolomic screening of tumor tissue and serum in glioma patients reveals diagnostic and prognostic information
- 2015
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Ingår i: Metabolites. - : MDPI. - 2218-1989 .- 2218-1989. ; 5:3, s. 502-520
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Tidskriftsartikel (refereegranskat)abstract
- Glioma grading and classification, today based on histological features, is not always easy to interpret and diagnosis partly relies on the personal experience of the neuropathologists. The most important feature of the classification is the aimed correlation between tumor grade and prognosis. However, in the clinical reality, large variations exist in the survival of patients concerning both glioblastomas and low-grade gliomas. Thus, there is a need for biomarkers for a more reliable classification of glioma tumors as well as for prognosis. We analyzed relative metabolite concentrations in serum samples from 96 fasting glioma patients and 81 corresponding tumor samples with different diagnosis (glioblastoma, oligodendroglioma) and grade (World Health Organization (WHO) grade II, III and IV) using gas chromatography-time of flight mass spectrometry (GC-TOFMS). The acquired data was analyzed and evaluated by pattern recognition based on chemometric bioinformatics tools. We detected feature patterns in the metabolomics data in both tumor and serum that distinguished glioblastomas from oligodendrogliomas (p(tumor) = 2.46 × 10(-8), p(serum) = 1.3 × 10(-5)) and oligodendroglioma grade II from oligodendroglioma grade III (p(tumor) = 0.01, p(serum) = 0.0008). Interestingly, we also found patterns in both tumor and serum with individual metabolite features that were both elevated and decreased in patients that lived long after being diagnosed with glioblastoma compared to those who died shortly after diagnosis (p(tum)(o)(r) = 0.006, p(serum) = 0.004; AUROCC(tumor) = 0.846 (0.647-1.000), AUROCC(serum) = 0.958 (0.870-1.000)). Metabolic patterns could also distinguish long and short survival in patients diagnosed with oligodendroglioma (p(tumor) = 0.01, p(serum) = 0.001; AUROCC(tumor) = 1 (1.000-1.000), AUROCC(serum) = 1 (1.000-1.000)). In summary, we found different metabolic feature patterns in tumor tissue and serum for glioma diagnosis, grade and survival, which indicates that, following further verification, metabolomic profiling of glioma tissue as well as serum may be a valuable tool in the search for latent biomarkers for future characterization of malignant glioma.
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