486 research outputs found

    (1)H-NMR analysis provides a metabolomic profile of patients with multiple sclerosis

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    OBJECTIVE: To investigate the metabolomic profiles of patients with multiple sclerosis (MS) and to define the metabolic pathways potentially related to MS pathogenesis. METHODS: Plasma samples from 73 patients with MS (therapy-free for at least 90 days) and 88 healthy controls (HC) were analyzed by (1)H-NMR spectroscopy. Data analysis was conducted with principal components analysis followed by a supervised analysis (orthogonal partial least squares discriminant analysis [OPLS-DA]). The metabolites were identified and quantified using Chenomx software, and the receiver operating characteristic (ROC) curves were calculated. RESULTS: The model obtained with the OPLS-DA identified predictive metabolic differences between the patients with MS and HC (R2X = 0.615, R2Y = 0.619, Q2 = 0.476; p < 0.001). The differential metabolites included glucose, 5-OH-tryptophan, and tryptophan, which were lower in the MS group, and 3-OH-butyrate, acetoacetate, acetone, alanine, and choline, which were higher in the MS group. The suitability of the model was evaluated using an external set of samples. The values returned by the model were used to build the corresponding ROC curve (area under the curve of 0.98). CONCLUSION: NMR metabolomic analysis was able to discriminate different metabolic profiles in patients with MS compared with HC. With the exception of choline, the main metabolic changes could be connected to 2 different metabolic pathways: tryptophan metabolism and energy metabolism. Metabolomics appears to represent a promising noninvasive approach for the study of M

    Correlation of Static Stress Changes and Earthquake Occurrence in

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    A systematic analysis is made of static Coulomb stress changes and earthquake occurrence in the area of the North Aegean Sea, Greece, in order to assess the prospect of using static stress changes to construct a regional earthquake likelihood model. The earthquake data set comprises all events of magnitude M ≥ 5.2 which have occurred since 1964. This is compared to the evolving stress field due to constant tectonic loading and perturbations due to coseismic slip associated with major earthquakes (M ≥ 6.4) over the same period. The stress was resolved for sixteen fault orientation classes, covering the observed focal mechanisms of all earthquakes in the region. Analysis using error diagrams shows that earthquake occurrence is better correlated with the constant tectonic loading component of the stress field than with the total stress field changes since 1964, and that little, if any, information on earthquake occurrence is lost if only the maximum of the tectonic loading over the fault orientation classes is considered. Moreover, the information on earthquake occurrence is actually increased by taking the maximum of the evolving stress field since 1964, and of its coseismic–slip component, over the fault orientation classes. The maximum, over fault orientation classes, of linear combinations of the tectonic loading and the evolving stress field is insignificantly better correlated with earthquake occurrence than the maximum of the tectonic loading by itself. A composite stress–change variable is constructed from ordering of the maximum tectonic loading component and the maximum coseismic–slip component, in order to optimize the correlation with earthquake occurrence. The results indicate that it would be difficult to construct a time–varying earthquake likelihood model from the evolving stress field that is more informative than a time–invariant model based on the constant tectonic loading

    Clinical course and features of persistent polyclonal B-cell lymphocytosis with BCL-6 amplification during pregnancy

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    Background: Persistent polyclonal B-cell lymphocytosis is a rare nonmalignant disorder characterized by mild persistent lymphocyte proliferation with possible evolution to aggressive lymphoma. Its biology is not well known, but it is characterized by a specific immunophenotype with rearrangement of the BCL-2/IGH gene, whereas amplification of the BCL-6 gene has rarely been reported. Given the paucity of reports, it has been hypothesized that this disorder is associated with poor pregnancy outcomes. Case report: To our knowledge, only two successful pregnancies have been described in women with this condition. We report the third successful pregnancy in a patient with PPBL and the first with amplification of the BCL-6 gene. Conclusions: PPBL is still a poorly understood clinical condition with insufficient data to demonstrate an adverse effect on pregnancy. The role of BCL-6 dysregulation in the pathogenesis of PPBL and its prognostic significance are still unknown. Evolution into aggressive clonal lymphoproliferative disorders is possible and prolonged hematologic follow-up is warranted in patients with this rare clinical disorder

    Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

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    Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpretation of genetic findings. The nonrandom association of both FSHD and WBS points at a gene co-expression network providing hints for the identification of modules and functionally enriched pathways in the two conditions

    Psychometric properties of the modified Yale Food Addiction Scale 2.0 in a large Brazilian sample

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    Objective: The field of food addiction has attracted growing research attention. The modified Yale Food Addiction Scale 2.0 (mYFAS 2.0) is a screening tool based on DSM-5 criteria for substance use disorders. However, there is no validated instrument to assess food addiction. Methods: The mYFAS 2.0 has been transculturally adapted to Brazilian Portuguese. The data for this study was obtained through an anonymous web-based research platform: participants provided socio- demographic data and answered Brazilian versions of the the mYFAS 2.0 and the Barratt Impulsivity Scale (BIS-11). Analysis included an assessment of the Brazilian mYFAS 2.0’s internal consistency reliability, factor structure, and convergent validity in relation to BIS-11 scores. Results: Overall, 7,639 participants were included (71.3% females; age: 27.2 6 7.9 years). The Brazilian mYFAS 2.0 had adequate internal consistency reliability (Cronbach’s alpha = 0.89). A single factor solution yielded the best goodness-of-fit parameters for both the continuous and categorical version of the mYFAS 2.0 in confirmatory factor analysis. In addition, mYFAS 2.0 correlated with BIS-11 total scores (Spearman’s rho = 0.26, p o 0.001) and subscores. Conclusion: The Brazilian mYFAS 2.0 demonstrated adequate psychometric properties in our sample; however, future studies should further evaluate its discriminant validity

    Chronic graft vs. host disease and hypogammaglobulinemia predict a lower immunological response to the BNT162b2 mRNA COVID-19 vaccine after allogeneic hematopoietic stem cell transplantation

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    Due to the high mortality rate of COVID-19, the assessment of BNT162b2 SARS-CoV-2 mRNA vaccine (Pfizer-BioNTech) efficacy in allogeneic hematopoietic stem cell transplant (HSCT) recipients is mandatory
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