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- Benton, S., et al.
(author)
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Impact of Next-generation Sequencing on Interobserver Agreement and Diagnosis of Spitzoid Neoplasms
- 2021
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In: American Journal of Surgical Pathology. - : Ovid Technologies (Wolters Kluwer Health). - 0147-5185 .- 1532-0979. ; 45:12, s. 1597-1605
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Journal article (peer-reviewed)abstract
- Atypical Spitzoid melanocytic tumors are diagnostically challenging. Many studies have suggested various genomic markers to improve classification and prognostication. We aimed to assess whether next-generation sequencing studies using the Tempus xO assay assessing mutations in 1711 cancer-related genes and performing whole transcriptome mRNA sequencing for structural alterations could improve diagnostic agreement and accuracy in assessing neoplasms with Spitzoid histologic features. Twenty expert pathologists were asked to review 70 consultation level cases with Spitzoid features, once with limited clinical information and again with additional genomic information. There was an improvement in overall agreement with additional genomic information. Most significantly, there was increase in agreement of the diagnosis of conventional melanoma from moderate (kappa=0.470, SE=0.0105) to substantial (kappa=0.645, SE=0.0143) as measured by an average Cohen kappa. Clinical follow-up was available in all 70 cases which substantiated that the improved agreement was clinically significant. Among 3 patients with distant metastatic disease, there was a highly significant increase in diagnostic recognition of the cases as conventional melanoma with genomics (P<0.005). In one case, none of 20 pathologists recognized a tumor with BRAF and TERT promoter mutations associated with fatal outcome as a conventional melanoma when only limited clinical information was provided, whereas 60% of pathologists correctly diagnosed this case when genomic information was also available. There was also a significant improvement in agreement of which lesions should be classified in the Spitz category/WHO Pathway from an average Cohen kappa of 0.360 (SE=0.00921) to 0.607 (SE=0.0232) with genomics.
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- Dickstein, D. L., et al.
(author)
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Brain and blood biomarkers of tauopathy and neuronal injury in humans and rats with neurobehavioral syndromes following blast exposure
- 2021
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In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 26
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Journal article (peer-reviewed)abstract
- Traumatic brain injury (TBI) is a risk factor for the later development of neurodegenerative diseases that may have various underlying pathologies. Chronic traumatic encephalopathy (CTE) in particular is associated with repetitive mild TBI (mTBI) and is characterized pathologically by aggregation of hyperphosphorylated tau into neurofibrillary tangles (NFTs). CTE may be suspected when behavior, cognition, and/or memory deteriorate following repetitive mTBI. Exposure to blast overpressure from improvised explosive devices (IEDs) has been implicated as a potential antecedent for CTE amongst Iraq and Afghanistan Warfighters. In this study, we identified biomarker signatures in rats exposed to repetitive low-level blast that develop chronic anxiety-related traits and in human veterans exposed to IED blasts in theater with behavioral, cognitive, and/or memory complaints. Rats exposed to repetitive low-level blasts accumulated abnormal hyperphosphorylated tau in neuronal perikarya and perivascular astroglial processes. Using positron emission tomography (PET) and the [F-18]AV1451 (flortaucipir) tau ligand, we found that five of 10 veterans exhibited excessive retention of [F-18]AV1451 at the white/gray matter junction in frontal, parietal, and temporal brain regions, a typical localization of CTE tauopathy. We also observed elevated levels of neurofilament light (NfL) chain protein in the plasma of veterans displaying excess [F-18]AV1451 retention. These findings suggest an association linking blast injury, tauopathy, and neuronal injury. Further study is required to determine whether clinical, neuroimaging, and/or fluid biomarker signatures can improve the diagnosis of long-term neuropsychiatric sequelae of mTBI.
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- Gato, Jorge, et al.
(author)
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Psychosocial Effects of the COVID-19 Pandemic and Mental Health among LGBTQ+ Young Adults : A Cross-Cultural Comparison across Six Nations
- 2021
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In: Journal of Homosexuality. - : Haworth Press. - 0091-8369 .- 1540-3602. ; 68:4, s. 612-630
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Journal article (peer-reviewed)abstract
- Across the world, people have seen their lives interrupted by the COVID-19 pandemic. Using an online survey, we explored how the psychosocial effects of the pandemic affected the mental health of LGBTQ+ young adults who were confined with their parents during the lockdown period (N = 1,934), from six countries: Portugal, UK, Italy, Brazil, Chile, and Sweden. South American participants experienced more negative psychosocial effects of the pandemic. Depression and anxiety were higher among participants who were younger, not working, living in Europe and who reported feeling more emotionally affected by the pandemic, uncomfortable at home, or isolated from non-LGBTQ friends. Not attending higher education predicted depression while not being totally confined at home, residing habitually with parents, and fearing more future infection predicted anxiety. LGBTQ+ community groups, as well as health and educational services should remain particularly attentive to the needs of LGBTQ+ young adults during health crises.
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| 8. |
- Llewellyn, R. D. O., et al.
(author)
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Establishing the Maximum Collectivity in Highly Deformed N = Z Nuclei
- 2020
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In: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 124:15
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Journal article (peer-reviewed)abstract
- The lifetimes of the first excited 2(+) states in the N = Z nuclei Zr-80, Y-78, and Sr-76 have been measured using the gamma-ray line shape method following population via nucleon-knockout reactions from intermediate-energy rare-isotope beams. The extracted reduced electromagnetic transition strengths yield new information on where the collectivity is maximized and provide evidence for a significant, and as yet unexplained, odd-odd vs even-even staggering in the observed values. The experimental results are analyzed in the context of state-of-the-art nuclear density-functional model calculations.
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- Llewellyn, R. D. O., et al.
(author)
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Spectroscopy of proton-rich Zr-79 : Mirror energy differences in the highly-deformed fpg shell
- 2020
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In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 811
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Journal article (peer-reviewed)abstract
- Energy differences between isobaric analogue states have been extracted for the A = 79, Zr-79/Y-79 mirror pair following their population via nucleon-knockout reactions from intermediate-energy rare-isotope beams. These are the heaviest nuclei where such measurements have been made to date. The deduced mirror energy differences (MED) are compared with predictions from a new density-functional based approach, incorporating isospin-breaking effects of both Coulomb and nuclear charge-symmetry breaking and configuration mixing.
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