2,451 results on '"Bernard, J-P"'
Search Results
2. A warm Neptune’s methane reveals core mass and vigorous atmospheric mixing
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Sing, David K., Rustamkulov, Zafar, Thorngren, Daniel P., Barstow, Joanna K., Tremblin, Pascal, Alves de Oliveira, Catarina, Beck, Tracy L., Birkmann, Stephan M., Challener, Ryan C., Crouzet, Nicolas, Espinoza, Néstor, Ferruit, Pierre, Giardino, Giovanna, Gressier, Amélie, Lee, Elspeth K. H., Lewis, Nikole K., Maiolino, Roberto, Manjavacas, Elena, Rauscher, Bernard J., Sirianni, Marco, and Valenti, Jeff A.
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- 2024
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3. Persistence of left atrial thrombus in patients with hypertrophic cardiomyopathy and atrial fibrillation
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Burczak, Daniel R., Scott, Christopher G., Julakanti, Raghav R., Kara Balla, Abdalla, Swain, William H., Ismail, Khaled, Geske, Jeffrey B., Killu, Ammar M., Deshmukh, Abhishek J., MacIntyre, Ciorsti J., Ommen, Steve R., Nkomo, Vuyisile T., Gersh, Bernard J., Noseworthy, Peter A., and Siontis, Konstantinos C.
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- 2024
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4. Persona preparedness: a survey instrument for measuring the organizational readiness for deploying personas
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Salminen, Joni, Nielsen, Lene, Bahloul, Malik, Jørgensen, Rasmus Grønlund, Santos, João M., Jung, Soon-Gyo, and Jansen, Bernard J.
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- 2024
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5. Enhancing the Motivation to Teach in the Context of Teacher Shortages: Teacher Candidates' Perceptions of Clinical Educators' Practices in a Professional Development School
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Logan Rutten and Bernard J. Badiali
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As teacher shortages persist in parts of the United States, clinically based teacher educators could play a role in addressing the problem by utilizing practices that enhance (rather than diminish) teacher candidates' motivation to teach. Using self-determination theory as a lens for looking at clinical experiences, this study asked how 12 teacher candidates in a Professional Development School (PDS) perceived clinical educators enhancing their motivation. Findings indicated that clinical educators enhanced motivation using six distinctive practices: "Opening Space", "Affirming Practice", "Learning Visibly", "Seeking Voice", "Accepting Ideas", and "Being Present". These findings' implications for clinical educators and future research are examined.
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- 2024
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6. Identifying longitudinal cognitive resilience from cross-sectional amyloid, tau, and neurodegeneration
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Boyle, Rory, Townsend, Diana L., Klinger, Hannah M., Scanlon, Catherine E., Yuan, Ziwen, Coughlan, Gillian T., Seto, Mabel, Shirzadi, Zahra, Yau, Wai-Ying Wendy, Jutten, Roos J., Schneider, Christoph, Farrell, Michelle E., Hanseeuw, Bernard J., Mormino, Elizabeth C., Yang, Hyun-Sik, Papp, Kathryn V., Amariglio, Rebecca E., Jacobs, Heidi I. L., Price, Julie C., Chhatwal, Jasmeer P., Schultz, Aaron P., Properzi, Michael J., Rentz, Dorene M., Johnson, Keith A., Sperling, Reisa A., Hohman, Timothy J., Donohue, Michael C., and Buckley, Rachel F.
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- 2024
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7. Amyloid-PET imaging predicts functional decline in clinically normal individuals
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Quenon, Lisa, Collij, Lyduine E., Garcia, David Vállez, Lopes Alves, Isadora, Gérard, Thomas, Malotaux, Vincent, Huyghe, Lara, Gispert, Juan Domingo, Jessen, Frank, Visser, Pieter Jelle, den Braber, Anouk, Ritchie, Craig W., Boada, Mercè, Marquié, Marta, Vandenberghe, Rik, Luckett, Emma S., Schöll, Michael, Frisoni, Giovanni B., Buckley, Christopher, Stephens, Andrew, Altomare, Daniele, Ford, Lisa, Birck, Cindy, Mett, Anja, Gismondi, Rossella, Wolz, Robin, Grootoonk, Sylke, Manber, Richard, Shekari, Mahnaz, Lhommel, Renaud, Dricot, Laurence, Ivanoiu, Adrian, Farrar, Gill, Barkhof, Frederik, and Hanseeuw, Bernard J.
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- 2024
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8. Lower in vivo locus coeruleus integrity is associated with lower cortical thickness in older individuals with elevated Alzheimer’s pathology: a cohort study
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Engels-Domínguez, Nina, Koops, Elouise A., Hsieh, Stephanie, Wiklund, Emma E., Schultz, Aaron P., Riphagen, Joost M., Prokopiou, Prokopis C., Hanseeuw, Bernard J., Rentz, Dorene M., Sperling, Reisa A., Johnson, Keith A., and Jacobs, Heidi I. L.
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- 2024
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9. Pannexin 1 dysregulation in Duchenne muscular dystrophy and its exacerbation of dystrophic features in mdx mice
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Freeman, Emily, Langlois, Stéphanie, Leyba, Marcos F., Ammar, Tarek, Léger, Zacharie, McMillan, Hugh J., Renaud, Jean-Marc, Jasmin, Bernard J., and Cowan, Kyle N.
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- 2024
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10. CD38 genetic variation is associated with increased personal distress to an emotional stimulus
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Procyshyn, Tanya L., Leclerc Bédard, Laury-Ann, Crespi, Bernard J., and Bartz, Jennifer A.
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- 2024
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11. Finetuning Analytics Information Systems for a Better Understanding of Users: Evidence of Personification Bias on Multiple Digital Channels
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Jansen, Bernard J., Jung, Soon-gyo, and Salminen, Joni
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- 2024
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12. Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
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Chan, James M., Clendenning, Mark, Joseland, Sharelle, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Walker, Romy, Como, Julia, Preston, Susan, Chai, Shuyi Marci, Chu, Yen Lin, Meyers, Aaron L., Pope, Bernard J., Duggan, David, Fink, J. Lynn, Macrae, Finlay A., Rosty, Christophe, Winship, Ingrid M., Jenkins, Mark A., and Buchanan, Daniel D.
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- 2024
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13. A Novel Frailty Index Can Predict the Short-Term Outcomes of Esophagectomy in Older Patients with Esophageal Cancer
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Thomas Boerner, Marisa Sewell, Amy L. Tin, Andrew J. Vickers, Caitlin Harrington-Baksh, Manjit S. Bains, Matthew J. Bott, Bernard J. Park, Smita Sihag, David R. Jones, Robert J. Downey, Armin Shahrokni, and Daniela Molena
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frailty ,novel scoring system ,older patients ,esophagectomy ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: Frailty, rather than age, is associated with postoperative morbidity and mortality. We sought to determine whether preoperative frailty as defined by a novel scoring system could predict the outcomes among older patients undergoing esophagectomy. Methods: We identified patients 65 years or older who underwent esophagectomy between 2011 and 2021 at our institution. Frailty was assessed using the MSK-FI, which consists of 1 component related to functional status and 10 medical comorbidities. We used a multivariable logistic regression model to test for the associations between frailty and short-term outcomes, with continuous frailty score as the predictor and additionally adjusted for age and Eastern Cooperative Oncology Group performance status. Results: In total, 447 patients were included in the analysis (median age of 71 years [interquartile range, 68–75]). Most of the patients underwent neoadjuvant treatment (81%), an Ivor Lewis esophagectomy (86%), and minimally invasive surgery (55%). A total of 22 patients (4.9%) died within 90 days of surgery, 144 (32%) had a major complication, 81 (19%) were readmitted, and 31 (7.2%) were discharged to a facility. Of the patients who died within 90 days, 19 had a major complication, yielding a failure-to-rescue rate of 13%. The risk of 30-day major complications (OR, 1.24 [95% CI, 1.09–1.41]; p = 0.001), readmissions (OR, 1.31 [95% CI, 1.13–1.52]; p < 0.001), and discharge to a facility (OR, 1.86 [95% CI, 1.49–2.37]; p < 0.001) increased with increasing frailty. Frailty and 90-day mortality were not associated. Conclusions: Frailty assessment during surgery decision-making can identify patients with a high risk of morbidity.
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- 2024
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14. Neurocysticercosis Prevalence and Characteristics in Communities of Sinda District in Zambia: A Cross-Sectional Study
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Gideon Zulu, Dominik Stelzle, Sarah Gabriël, Chiara Trevisan, Inge Van Damme, Chishimba Mubanga, Veronika Schmidt, Bernard J. Ngowi, Tamara M. Welte, Pascal Magnussen, Charlotte Ruether, Agnes Fleury, Pierre Dorny, Emmanuel Bottieau, Isaac K. Phiri, Kabemba E. Mwape, Andrea S. Winkler, and the SOLID consortium
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Taenia solium ,Cysticercosis ,Neurocysticercosis ,Point-of-care test ,Zambia ,Prevalence ,Public aspects of medicine ,RA1-1270 - Abstract
Abstract Background This study aimed at describing the epidemiology of (neuro)cysticercosis as well as its clinical and radiological characteristics in a Taenia solium endemic district of Zambia. Methods This was part of a cross-sectional community-based study conducted in Sinda district to evaluate an antibody-detecting T. solium point-of-care (TS POC) test for taeniosis and (neuro)cysticercosis. All TS POC cysticercosis positive (CC+) participants and a subset of the TS POC cysticercosis negative (CC-) received a clinical evaluation and cerebral computed tomography (CT) examination for neurocysticercosis (NCC) diagnosis and staging. Results Of the 1249 participants with a valid TS POC test result, 177 (14%) were TS POC CC+ . Cysticercosis sero-prevalence was estimated to be 20.1% (95% confidence intervals [CI] 14.6–27.0%). In total, 233 participants received a CT examination (151 TS POC CC+ , 82 TS POC CC-). Typical NCC lesions were present in 35/151 (23%) TS POC CC+ , and in 10/82 (12%) TS POC CC- participants. NCC prevalence was 13.5% (95% CI 8.4–21.1%) in the study population and 38.0% (95% CI 5.2–87.4%) among people reporting epileptic seizures. Participants with NCC were more likely to experience epileptic seizures (OR = 3.98, 95% CI 1.34–11.78, p = 0.01) than those without NCC, although only 7/45 (16%) people with NCC ever experienced epileptic seizures. The number of lesions did not differ by TS POC CC status (median: 3 [IQR 1–6] versus 2.5 [IQR 1–5.3], p = 0.64). Eight (23%) of the 35 TS POC CC+ participants with NCC had active stage lesions; in contrast none of the TS POC CC- participants was diagnosed with active NCC. Conclusion NCC is common in communities in the Eastern province of Zambia, but a large proportion of people remain asymptomatic.
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- 2024
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15. Identifying longitudinal cognitive resilience from cross-sectional amyloid, tau, and neurodegeneration
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Rory Boyle, Diana L. Townsend, Hannah M. Klinger, Catherine E. Scanlon, Ziwen Yuan, Gillian T. Coughlan, Mabel Seto, Zahra Shirzadi, Wai-Ying Wendy Yau, Roos J. Jutten, Christoph Schneider, Michelle E. Farrell, Bernard J. Hanseeuw, Elizabeth C. Mormino, Hyun-Sik Yang, Kathryn V. Papp, Rebecca E. Amariglio, Heidi I. L. Jacobs, Julie C. Price, Jasmeer P. Chhatwal, Aaron P. Schultz, Michael J. Properzi, Dorene M. Rentz, Keith A. Johnson, Reisa A. Sperling, Timothy J. Hohman, Michael C. Donohue, Rachel F. Buckley, and for the Alzheimer’s Disease Neuroimaging Initiative
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Longitudinal analysis ,Alzheimer’s disease ,Amyloid ,Tau ,PET ,MRI ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background Leveraging Alzheimer’s disease (AD) imaging biomarkers and longitudinal cognitive data may allow us to establish evidence of cognitive resilience (CR) to AD pathology in-vivo. Here, we applied latent class mixture modeling, adjusting for sex, baseline age, and neuroimaging biomarkers of amyloid, tau and neurodegeneration, to a sample of cognitively unimpaired older adults to identify longitudinal trajectories of CR. Methods We identified 200 Harvard Aging Brain Study (HABS) participants (mean age = 71.89 years, SD = 9.41 years, 59% women) who were cognitively unimpaired at baseline with 2 or more timepoints of cognitive assessment following a single amyloid-PET, tau-PET and structural MRI. We examined latent class mixture models with longitudinal cognition as the dependent variable and time from baseline, baseline age, sex, neocortical Aβ, entorhinal tau, and adjusted hippocampal volume as independent variables. We then examined group differences in CR-related factors across the identified subgroups from a favored model. Finally, we applied our favored model to a dataset from the Alzheimer’s Disease Neuroimaging Initiative (ADNI; n = 160, mean age = 73.9 years, SD = 7.6 years, 60% women). Results The favored model identified 3 latent subgroups, which we labelled as Normal (71% of HABS sample), Resilient (22.5%) and Declining (6.5%) subgroups. The Resilient subgroup exhibited higher baseline cognitive performance and a stable cognitive slope. They were differentiated from other groups by higher levels of verbal intelligence and past cognitive activity. In ADNI, this model identified a larger Normal subgroup (88.1%), a smaller Resilient subgroup (6.3%) and a Declining group (5.6%) with a lower cognitive baseline. Conclusion These findings demonstrate the value of data-driven approaches to identify longitudinal CR groups in preclinical AD. With such an approach, we identified a CR subgroup who reflected expected characteristics based on previous literature, higher levels of verbal intelligence and past cognitive activity.
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- 2024
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16. Amyloid-PET imaging predicts functional decline in clinically normal individuals
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Lisa Quenon, Lyduine E. Collij, David Vállez Garcia, Isadora Lopes Alves, Thomas Gérard, Vincent Malotaux, Lara Huyghe, Juan Domingo Gispert, Frank Jessen, Pieter Jelle Visser, Anouk den Braber, Craig W. Ritchie, Mercè Boada, Marta Marquié, Rik Vandenberghe, Emma S. Luckett, Michael Schöll, Giovanni B. Frisoni, Christopher Buckley, Andrew Stephens, Daniele Altomare, Lisa Ford, Cindy Birck, Anja Mett, Rossella Gismondi, Robin Wolz, Sylke Grootoonk, Richard Manber, Mahnaz Shekari, Renaud Lhommel, Laurence Dricot, Adrian Ivanoiu, Gill Farrar, Frederik Barkhof, Bernard J. Hanseeuw, and the AMYPAD Consortium
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Amyloid-PET ,Centiloid ,Preclinical Alzheimer ,Functional decline ,Instrumental activities of daily living ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background There is good evidence that elevated amyloid-β (Aβ) positron emission tomography (PET) signal is associated with cognitive decline in clinically normal (CN) individuals. However, it is less well established whether there is an association between the Aβ burden and decline in daily living activities in this population. Moreover, Aβ-PET Centiloids (CL) thresholds that can optimally predict functional decline have not yet been established. Methods Cross-sectional and longitudinal analyses over a mean three-year timeframe were performed on the European amyloid-PET imaging AMYPAD-PNHS dataset that phenotypes 1260 individuals, including 1032 CN individuals and 228 participants with questionable functional impairment. Amyloid-PET was assessed continuously on the Centiloid (CL) scale and using Aβ groups (CL 50 = Aβ+). Functional abilities were longitudinally assessed using the Clinical Dementia Rating (Global-CDR, CDR-SOB) and the Amsterdam Instrumental Activities of Daily Living Questionnaire (A-IADL-Q). The Global-CDR was available for the 1260 participants at baseline, while baseline CDR-SOB and A-IADL-Q scores and longitudinal functional data were available for different subsamples that had similar characteristics to those of the entire sample. Results Participants included 765 Aβ- (61%, Mdn age = 66.0, IQR age = 61.0–71.0; 59% women), 301 Aβ± (24%; Mdn age = 69.0, IQR age = 64.0–75.0; 53% women) and 194 Aβ+ individuals (15%, Mdn age = 73.0, IQR age = 68.0–78.0; 53% women). Cross-sectionally, CL values were associated with CDR outcomes. Longitudinally, baseline CL values predicted prospective changes in the CDR-SOB (b CL*Time = 0.001/CL/year, 95% CI [0.0005,0.0024], p = .003) and A-IADL-Q (b CL*Time = -0.010/CL/year, 95% CI [-0.016,-0.004], p = .002) scores in initially CN participants. Increased clinical progression (Global-CDR > 0) was mainly observed in Aβ+ CN individuals (HR Aβ+ vs Aβ- = 2.55, 95% CI [1.16,5.60], p = .020). Optimal thresholds for predicting decline were found at 41 CL using the CDR-SOB (b Aβ+ vs Aβ- = 0.137/year, 95% CI [0.069,0.206], p
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- 2024
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17. Lower in vivo locus coeruleus integrity is associated with lower cortical thickness in older individuals with elevated Alzheimer’s pathology: a cohort study
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Nina Engels-Domínguez, Elouise A. Koops, Stephanie Hsieh, Emma E. Wiklund, Aaron P. Schultz, Joost M. Riphagen, Prokopis C. Prokopiou, Bernard J. Hanseeuw, Dorene M. Rentz, Reisa A. Sperling, Keith A. Johnson, and Heidi I. L. Jacobs
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Locus coeruleus ,Cortical thickness ,Neurodegeneration ,Brain structure ,MRI ,PiB-PET ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background Autopsy work indicates that the widely-projecting noradrenergic pontine locus coeruleus (LC) is among the earliest regions to accumulate hyperphosphorylated tau, a neuropathological Alzheimer’s disease (AD) hallmark. This early tau deposition is accompanied by a reduced density of LC projections and a reduction of norepinephrine’s neuroprotective effects, potentially compromising the neuronal integrity of LC’s cortical targets. Previous studies suggest that lower magnetic resonance imaging (MRI)-derived LC integrity may signal cortical tissue degeneration in cognitively healthy, older individuals. However, whether these observations are driven by underlying AD pathology remains unknown. To that end, we examined potential effect modifications by cortical beta-amyloid and tau pathology on the association between in vivo LC integrity, as quantified by LC MRI signal intensity, and cortical neurodegeneration, as indexed by cortical thickness. Methods A total of 165 older individuals (74.24 ± 9.72 years, ~ 60% female, 10% cognitively impaired) underwent whole-brain and dedicated LC 3T-MRI, Pittsburgh Compound-B (PiB, beta-amyloid) and Flortaucipir (FTP, tau) positron emission tomography. Linear regression analyses with bootstrapped standard errors (n = 2000) assessed associations between bilateral cortical thickness and i) LC MRI signal intensity and, ii) LC MRI signal intensity interacted with cortical FTP or PiB (i.e., EC FTP, IT FTP, neocortical PiB) in the entire sample and a low beta-amyloid subsample. Results Across the entire sample, we found a direct effect, where lower LC MRI signal intensity was associated with lower mediolateral temporal cortical thickness. Evaluation of potential effect modifications by FTP or PiB revealed that lower LC MRI signal intensity was related to lower cortical thickness, particularly in individuals with elevated (EC, IT) FTP or (neocortical) PiB. The latter result was present starting from subthreshold PiB values. In low PiB individuals, lower LC MRI signal intensity was related to lower EC cortical thickness in the context of elevated EC FTP. Conclusions Our findings suggest that LC-related cortical neurodegeneration patterns in older individuals correspond to regions representing early Braak stages and may reflect a combination of LC projection density loss and emergence of cortical AD pathology. This provides a novel understanding that LC-related cortical neurodegeneration may signal downstream consequences of AD-related pathology, rather than being exclusively a result of aging.
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- 2024
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18. Multi-task photonic reservoir computing: wavelength division multiplexing for parallel computing with a silicon microring resonator
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Bernard J. Giron Castro, Christophe Peucheret, Darko Zibar, and Francesco Da Ros
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reservoir computing ,parallel computing ,microring resonator ,neuromorphic photonics ,wavelength division multiplexing ,Technology - Abstract
Nowadays, as the ever-increasing demand for more powerful computing resources continues, alternative advanced computing paradigms are under extensive investigation. Significant effort has been made to deviate from conventional Von Neumann architectures. In-memory computing has emerged in the field of electronics as a possible solution to the infamous bottleneck between memory and computing processors, which reduces the effective throughput of data. In photonics, novel schemes attempt to collocate the computing processor and memory in a single device. Photonics offers the flexibility of multiplexing streams of data not only spatially and in time, but also in frequency or, equivalently, in wavelength, which makes it highly suitable for parallel computing. Here, we numerically show the use of time and wavelength division multiplexing (WDM) to solve four independent tasks at the same time in a single photonic chip, serving as a proof of concept for our proposal. The system is a time-delay reservoir computing (TDRC) based on a microring resonator (MRR). The addressed tasks cover different applications: Time-series prediction, waveform signal classification, wireless channel equalization, and radar signal prediction. The system is also tested for simultaneous computing of up to 10 instances of the same task, exhibiting excellent performance. The footprint of the system is reduced by using time-division multiplexing of the nodes that act as the neurons of the studied neural network scheme. WDM is used for the parallelization of wavelength channels, each addressing a single task. By adjusting the input power and frequency of each optical channel, we can achieve levels of performance for each of the tasks that are comparable to those quoted in state-of-the-art reports focusing on single-task operation. We also quantify the memory capacity and nonlinearity of each parallelized RC and relate these properties to the performance of each task. Finally, we provide insight into the impact of the feedback mechanism on the performance of the system.
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- 2024
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19. The evolutionary basis of elevated testosterone in women with polycystic ovary syndrome: an overview of systematic reviews of the evidence
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Aiden Bushell and Bernard J. Crespi
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polycystic ovary syndrome ,evolution ,testosterone ,strength ,muscularity ,dominance ,Reproduction ,QH471-489 ,Medicine (General) ,R5-920 - Abstract
Polycystic ovary syndrome (PCOS) exhibits high prevalence and heritability despite causing negative impacts on fertility and fecundity. Previous hypotheses have postulated that some PCOS-associated traits, especially above-average levels of testosterone, were associated with benefits in ancestral environments. As such, PCOS would represent, in part, a maladaptive extreme of adaptations related to relatively high testosterone. To evaluate this hypothesis, we conducted a series of systematic literature reviews on the associations of testosterone levels, and prenatal testosterone metrics, with measures of strength, robustness, muscularity, and athleticism in females. We also systematically reviewed the literature on associations of testosterone with dominance in females and reviewed archaeological evidence concerning female strength and muscularity and its correlates. The main findings were fivefold: (1) elevated testosterone levels were generally associated with higher strength, muscularity and athleticism in females; (2) females with PCOS showed notable evidence of increased strength, muscularity, and athleticism compared to controls; (3) females with higher testosterone levels exhibited clear evidence of high dominance, (4) despite evidence that higher testosterone is linked with higher bone mineral density in healthy females, PCOS was not clearly associated with this phenotype; and (5) archaeological evidence from osteology, and data from some current small-scale societies, indicated that females often exhibit substantial levels of muscularity. Overall, the hypothesis that relatively high levels of testosterone are associated with benefits to females in some contexts was largely supported. These results provide evidence for the “maladaptive extremes of adaptation” model, with implications for treatment of females with PCOS and for future research.
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- 2024
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20. Hydrogen Jet Flame Control by Global Mode
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Wawrzak, Agnieszka, Wawrzak, Karol, Boguslawski, Andrzej, Tyliszczak, Artur, and Geurts, Bernard J.
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- 2024
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21. The management of marketing talent
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Jaworski, Bernard J.
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- 2023
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22. How can algorithms help in segmenting users and customers? A systematic review and research agenda for algorithmic customer segmentation
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Salminen, Joni, Mustak, Mekhail, Sufyan, Muhammad, and Jansen, Bernard J.
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- 2023
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23. Pannexin 1 dysregulation in Duchenne muscular dystrophy and its exacerbation of dystrophic features in mdx mice
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Emily Freeman, Stéphanie Langlois, Marcos F. Leyba, Tarek Ammar, Zacharie Léger, Hugh J. McMillan, Jean-Marc Renaud, Bernard J. Jasmin, and Kyle N. Cowan
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Duchenne muscular dystrophy ,Myoblast ,Myofiber ,Pannexin 1 ,Skeletal muscle ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background Duchenne muscular dystrophy (DMD) is associated with impaired muscle regeneration, progressive muscle weakness, damage, and wasting. While the cause of DMD is an X-linked loss of function mutation in the gene encoding dystrophin, the exact mechanisms that perpetuate the disease progression are unknown. Our laboratory has demonstrated that pannexin 1 (Panx1 in rodents; PANX1 in humans) is critical for the development, strength, and regeneration of male skeletal muscle. In normal skeletal muscle, Panx1 is part of a multiprotein complex with dystrophin. We and others have previously shown that Panx1 levels and channel activity are dysregulated in various mouse models of DMD. Methods We utilized myoblast cell lines derived from DMD patients to assess PANX1 expression and function. To investigate how Panx1 dysregulation contributes to DMD, we generated a dystrophic (mdx) mouse model that lacks Panx1 (Panx1 −/− /mdx). In depth characterization of this model included histological analysis, as well as locomotor, and physiological tests such as muscle force and grip strength assessments. Results Here, we demonstrate that PANX1 levels and channel function are reduced in patient-derived DMD myoblast cell lines. Panx1 −/− /mdx mice have a significantly reduced lifespan, and decreased body weight due to lean mass loss. Their tibialis anterior were more affected than their soleus muscles and displayed reduced mass, myofiber loss, increased centrally nucleated myofibers, and a lower number of muscle stem cells compared to that of Panx1 +/+ /mdx mice. These detrimental effects were associated with muscle and locomotor functional impairments. In vitro, PANX1 overexpression in patient-derived DMD myoblasts improved their differentiation and fusion. Conclusions Collectively, our findings suggest that PANX1/Panx1 dysregulation in DMD exacerbates several aspects of the disease. Moreover, our results suggest a potential therapeutic benefit to increasing PANX1 levels in dystrophic muscles.
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- 2024
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24. The necessity of preoperative planning and nodule localization in the modern era of thoracic surgeryCentral Message
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Stijn Vanstraelen, MD, Gaetano Rocco, MD, Bernard J. Park, MD, and David R. Jones, MD
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3D planning ,localization ,segmentectomy ,sublobar resection ,small pulmonary nodules ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 ,Surgery ,RD1-811 - Published
- 2024
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25. The incremental contribution of mobile cone-beam computed tomography to the tool–lesion relationship during shape-sensing robotic-assisted bronchoscopy
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Bryan C. Husta, Anu Menon, Reza Bergemann, I-Hsin Lin, Jaclyn Schmitz, Rastko Rakočević, Tejaswi R. Nadig, Prasad S. Adusumilli, Jason A. Beattie, Robert P. Lee, Bernard J. Park, Gaetano Rocco, Matthew J. Bott, Mohit Chawla, and Or Kalchiem-Dekel
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Medicine - Abstract
Introduction This study aims to answer the question of whether adding mobile cone-beam computed tomography (mCBCT) imaging to shape-sensing robotic-assisted bronchoscopy (ssRAB) translates into a quantifiable improvement in the tool–lesion relationship. Methods Data from 102 peripheral lung lesions with ≥2 sequential mCBCT orbital spins and from 436 lesions with 0–1 spins were prospectively captured and retrospectively analysed. The primary outcome was the tool–lesion relationship status across the first and the last mCBCT spins. Secondary outcomes included 1) the change in distance between the tip of the sampling tool and the centre of the lesion between the first and the last spins and 2) the per-lesion diagnostic yield. Results Compared to lesions requiring 0–1 spins, lesions requiring ≥2 spins were smaller and had unfavourable bronchus sign and intra-operative sonographic view. On the first spin, 54 lesions (53%) were designated as non-tool-in-lesion (non-TIL) while 48 lesions (47%) were designated as TIL. Of the 54 initially non-TIL cases, 49 (90%) were converted to TIL status by the last spin. Overall, on the last spin, 96 out of 102 lesions (94%) were defined as TIL and six out of 102 lesions (6%) were defined as non-TIL (p
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- 2024
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26. Ten‐Year Trend of Oral Anticoagulation Use in Postoperative and Nonpostoperative Atrial Fibrillation in Routine Clinical Practice
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Xiaoxi Yao, Holly K. Van Houten, Konstantinos C. Siontis, Paul A. Friedman, Robert D. McBane, Bernard J. Gersh, and Peter A. Noseworthy
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adherence ,oral anticoagulation ,postoperative atrial fibrillation ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background The study aimed to describe the patterns and trends of initiation, discontinuation, and adherence of oral anticoagulation (OAC) in patients with new‐onset postoperative atrial fibrillation (POAF), and compare with patients newly diagnosed with non‐POAF. Methods and Results This retrospective cohort study identified patients newly diagnosed with atrial fibrillation or flutter between 2012 and 2021 using administrative claims data from OptumLabs Data Warehouse. The POAF cohort included 118 366 patients newly diagnosed with atrial fibrillation or flutter within 30 days after surgery. The non‐POAF cohort included the remaining 315 832 patients who were newly diagnosed with atrial fibrillation or flutter but not within 30 days after a surgery. OAC initiation increased from 28.9% to 44.0% from 2012 to 2021 in POAF, and 37.8% to 59.9% in non‐POAF; 12‐month medication adherence increased from 47.0% to 61.8% in POAF, and 59.7% to 70.4% in non‐POAF. The median time to OAC discontinuation was 177 days for POAF, and 242 days for non‐POAF. Patients who saw a cardiologist within 90 days of the first atrial fibrillation or flutter diagnosis, regardless of POAF or non‐POAF, were more likely to initiate OAC (odds ratio, 2.92 [95% CI, 2.87–2.98]; P
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- 2024
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27. Daylight Saving Time Practice and the Rate of Adverse Cardiovascular Events in the United States: A Probabilistic Assessment in a Large Nationwide Study
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Benjamin A. Satterfield, MD, PhD, Ozan Dikilitas, MD, Holly Van Houten, BA, Xiaoxi Yao, PhD, MPH, and Bernard J. Gersh, MBChB, DPhil
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Medicine (General) ,R5-920 - Abstract
We investigated the association of daylight saving time (DST) transitions with the rates of adverse cardiovascular events in a large, US-based nationwide study. The study cohort included 36,116,951 unique individuals from deidentified administrative claims data of the OptumLabs Data Warehouse. There were 74,722 total adverse cardiovascular events during DST transition and the control weeks (2 weeks before and after) in spring and autumn of 2015-2019. We used Bayesian hierarchical Poisson regression models to estimate event rate ratios representing the ratio of composite adverse cardiovascular event rates between DST transition and control weeks. There was an average increase of 3% (95% uncertainty interval, −3% to −10%) and 4% (95% uncertainty interval, −2% to −12%) in adverse cardiovascular event rates during Monday and Friday of the spring DST transition, respectively. The probability of this being associated with a moderate-to-large increase in the event rates (estimate event rate ratio, >1.10) was estimated to be less than 6% for Monday and Friday, and less than 1% for the remaining days. During autumn DST transition, the probability of any decrease in adverse cardiovascular event rates was estimated to be less than 46% and a moderate-to-large decrease in the event rates to be less than 4% across all days. Results were similar when adjusted by age. In conclusion, spring DST transition had a suggestive association with a minor increase in adverse cardiovascular event rates but with a very low estimated probability to be of clinical importance. Our findings suggest that DST transitions are unlikely to meaningfully impact the rate of cardiovascular events.
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- 2024
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28. Exploring Social Media Privacy Concerns: A Comprehensive Survey Study Across 16 Middle Eastern and North African Countries
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Ali Farooq, Joni Salminen, Justin D. Martin, Kholoud Aldous, Soon-Gyo Jung, and Bernard J. Jansen
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Social media ,privacy ,Middle East ,North Africa ,MENA ,privacy concerns ,Electrical engineering. Electronics. Nuclear engineering ,TK1-9971 - Abstract
The wide use of social media raises numerous privacy concerns, with limited studies of the Middle East and North Africa (MENA) region. This study presents an in-depth analysis of social media privacy concerns in sixteen MENA countries, a timely and important topic in an under-studied region. A census-representative sample (N = 8140) was collected using an online panel survey from Algeria (n = 551), Bahrain (n = 453), Egypt (n = 522), Iraq (n = 526), Jordan (n = 580), Kuwait (n = 459), Lebanon (n = 485), Libya (n = 486), Morocco (n = 530), Oman (n = 471), Palestine (n = 486), Qatar (n = 489), Saudi Arabia (n = 521), Tunisia (n = 574), United Arab Emirates (n = 479), and Yemen (n = 528). Results show multi-level privacy differences in the Gulf, Levant, and North Africa regions, among countries in a region, and within a country based on gender, age, educational level, and resident status (expat vs. national). Results show the concerns and attitudes towards social media privacy in the MENA region, identifying factors contributing to these perceptions with implications for developing platforms and policies to address the unique privacy concerns of social media users in the MENA region.
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- 2024
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29. CD38 genetic variation is associated with increased personal distress to an emotional stimulus
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Tanya L. Procyshyn, Laury-Ann Leclerc Bédard, Bernard J. Crespi, and Jennifer A. Bartz
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Medicine ,Science - Abstract
Abstract Genetic variation in CD38—a putative oxytocin pathway gene—has been linked to higher oxytocin levels, empathy, and sensitive parenting, but also to more negative interpersonal outcomes (e.g., alienation from friends and family, poorer romantic relationship quality). To reconcile these seemingly contradictory findings, we drew upon the idea that CD38 variation may heighten social-emotional sensitivity and, consequently, make individuals prone to negative emotions in distressing interpersonal situations. To test this hypothesis, we performed a secondary analysis of a dataset including participants’ (n = 171; 94 females) empathic concern (“sympathetic”) and distress-related (“anxious”) responses to an emotional video. Distress responses were higher for the CD38 rs3796863 AA/AC group vs. the CC group (p = 0.03, η2 = 0.027); however, there was no significant effect of genotype for empathic concern responses to the video or for indices of trait empathy. These findings provide preliminary evidence that, in the face of an interpersonal stressor, CD38 genetic variation may predict more self-focused, aversive emotional reactions. More broadly, this finding highlights the need to adopt a more nuanced perspective in which the influence of oxytocin system variation (assessed by oxytocin-related genetic variation) should be considered in light of the social context.
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- 2024
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30. Double-stranded RNA prevents and cures infection by rust fungi
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Rebecca M. Degnan, Louise S. Shuey, Julian Radford-Smith, Donald M. Gardiner, Bernard J. Carroll, Neena Mitter, Alistair R. McTaggart, and Anne Sawyer
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Biology (General) ,QH301-705.5 - Abstract
Abstract Fungal pathogens that impact perennial plants or natural ecosystems require management strategies beyond fungicides and breeding for resistance. Rust fungi, some of the most economically and environmentally important plant pathogens, have shown amenability to double-stranded RNA (dsRNA) mediated control. To date, dsRNA treatments have been applied prior to infection or together with the inoculum. Here we show that a dsRNA spray can effectively prevent and cure infection by Austropuccinia psidii (cause of myrtle rust) at different stages of the disease cycle. Significant reductions in disease coverage were observed in plants treated with dsRNA targeting essential fungal genes 48 h pre-infection through to 14 days post-infection. For curative treatments, improvements in plant health and photosynthetic capacity were seen 2–6 weeks post-infection. Two-photon microscopy suggests inhibitory activity of dsRNA on intercellular hyphae or haustoria. Our results show that dsRNA acts both preventively and curatively against myrtle rust disease, with treated plants recovering from severe infection. These findings have immediate potential in the management of the more than 10-year epidemic of myrtle rust in Australia.
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- 2023
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31. Double-stranded RNA prevents and cures infection by rust fungi
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Degnan, Rebecca M., Shuey, Louise S., Radford-Smith, Julian, Gardiner, Donald M., Carroll, Bernard J., Mitter, Neena, McTaggart, Alistair R., and Sawyer, Anne
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- 2023
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32. Specific post-translational modifications of soluble tau protein distinguishes Alzheimer’s disease and primary tauopathies
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Kyalu Ngoie Zola, Nathalie, Balty, Clémence, Pyr dit Ruys, Sébastien, Vanparys, Axelle A. T., Huyghe, Nicolas D. G., Herinckx, Gaëtan, Johanns, Manuel, Boyer, Emilien, Kienlen-Campard, Pascal, Rider, Mark H., Vertommen, Didier, and Hanseeuw, Bernard J.
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- 2023
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33. A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
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Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.
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- 2023
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34. Politics on YouTube: Detecting Online Group Polarization Based on News Videos’ Comments
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Raghvendra Mall, Mridul Nagpal, Joni Salminen, Hind Almerekhi, Soon-gyo Jung, and Bernard J. Jansen
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History of scholarship and learning. The humanities ,AZ20-999 ,Social Sciences - Abstract
Technology-mediated group toxicity polarization is a major socio-technological issue of our time. For better large-scale monitoring of polarization among social media news content, we quantify the toxicity of news video comments using a Toxicity Polarization Score. For polarizing news videos, our premise is that the comments’ toxicity approximates either an “M” or “U” shaped distribution—that is, there is unevenly balanced toxicity among the comments. We evaluate our premises through a case study using a dataset of ~180,000 YouTube comments on ~3,700 real news videos from an international online news organization. Toward polarization-mitigating information systems, we build a predictive machine learning model to score the toxicity polarization of news content even when its comments are disabled or not available, as it is a current trend among news publishers to disable comments. Findings imply that the most engaging news content is also often the most polarizing, which we associate with increasing research on clickbait content and the detrimental effect of attention-based metrics on the health of online social media communities, especially news communities.
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- 2024
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35. The unsolved problem of solar-wind turbulence
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Charles W. Smith and Bernard J. Vasquez
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instabilities ,magnetic fields ,solar wind ,sun: heliosphere ,turbulence ,waves ,Astronomy ,QB1-991 ,Geophysics. Cosmic physics ,QC801-809 - Abstract
The solar wind forms the largest wind tunnel for plasma and magnetofluid turbulence that is accessible to Earth. It evolves from what is thought to be a turbulent source that continues to drive nonlinear turbulent dynamics as it expands outward via large-scale, energy-containing wind shear and shocks. In the outer heliosphere, once the gradients in the flow have coalesced and they no longer provide an adequate source for the turbulence, the excitation of wave energy by the injection of interstellar pickup ions becomes the dominant source of energy that continues to drive the turbulence. While there are established formalisms for the determination of the strength of the turbulence and the evolution of the turbulent spectra is well-established, the actual nonlinear dynamics that are responsible for its formation and evolution remain unresolved and the subject of considerable debate. We examine the evidence and attempt to illuminate the various theories while demonstrating what is needed to resolve the debates and bring the subject of plasma turbulence into a new level of understanding.
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- 2024
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36. The gut microbiome and sociability
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Katherine T. Weber, Bernard J. Varian, and Susan E. Erdman
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L. reuteri ,oxytocin ,autism spectrum disorder ,gut-brain-axis ,probiotic ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
The human gut microbiome plays an important role in the maturation of the neural, immune, and endocrine systems. Research data from animal models shows that gut microbiota communicate with the host's brain in an elaborate network of signaling pathways, including the vagus nerve. Part of the microbiome's influence extends to the behavioral and social development of its host. As a social species, a human's ability to communicate with others is imperative to their survival and quality of life. Current research explores the gut microbiota's developmental influence as well as how these gut-brain pathways can be leveraged to alleviate the social symptoms associated with various neurodevelopmental and psychiatric diseases. One intriguing vein of research in animal models centers on probiotic treatment, which leads to downstream increased circulation of endogenous oxytocin, a neuropeptide hormone relevant to sociability. Further research may lead to therapeutic applications in humans, particularly in the early stages of their lives.
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- 2024
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37. Thoracolumbar spine trauma: a guide for the FRCS examination
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Hwang, Z., Abdalla, M., Ajayi, B., Bernard, J., Bishop, T., and Lui, D. F.
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- 2023
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38. Reducing radiation exposure and cancer risk for children with scoliosis: EOS the new gold standard
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Rose, L. D., Williams, R., Ajayi, B., Abdalla, M., Bernard, J., Bishop, T., Papadakos, N., and Lui, D. F.
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- 2023
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39. Correction to: Finetuning Analytics Information Systems for a Better Understanding of Users: Evidence of Personification Bias on Multiple Digital Channels
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Jansen, Bernard J., Jung, Soon‑gyo, and Salminen, Joni
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- 2024
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40. Evolving concepts of the vulnerable atherosclerotic plaque and the vulnerable patient: implications for patient care and future research
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Gaba, Prakriti, Gersh, Bernard J., Muller, James, Narula, Jagat, and Stone, Gregg W.
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- 2023
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41. Specific post-translational modifications of soluble tau protein distinguishes Alzheimer’s disease and primary tauopathies
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Nathalie Kyalu Ngoie Zola, Clémence Balty, Sébastien Pyr dit Ruys, Axelle A. T. Vanparys, Nicolas D. G. Huyghe, Gaëtan Herinckx, Manuel Johanns, Emilien Boyer, Pascal Kienlen-Campard, Mark H. Rider, Didier Vertommen, and Bernard J. Hanseeuw
- Subjects
Science - Abstract
Abstract Tau protein aggregates in several neurodegenerative disorders, referred to as tauopathies. The tau isoforms observed in post mortem human brain aggregates is used to classify tauopathies. However, distinguishing tauopathies ante mortem remains challenging, potentially due to differences between insoluble tau in aggregates and soluble tau in body fluids. Here, we demonstrated that tau isoforms differ between tauopathies in insoluble aggregates, but not in soluble brain extracts. We therefore characterized post-translational modifications of both the aggregated and the soluble tau protein obtained from post mortem human brain tissue of patients with Alzheimer’s disease, cortico-basal degeneration, Pick’s disease, and frontotemporal lobe degeneration. We found specific soluble signatures for each tauopathy and its specific aggregated tau isoforms: including ubiquitination on Lysine 369 for cortico-basal degeneration and acetylation on Lysine 311 for Pick’s disease. These findings provide potential targets for future development of fluid-based biomarker assays able to distinguish tauopathies in vivo.
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- 2023
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42. Knowledge and misconceptions about epilepsy among people with epilepsy and their caregivers attending mental health clinics: A qualitative study in Taenia solium endemic pig‐keeping communities in Tanzania
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Charles E Makasi, Andrew M Kilale, Bernard J Ngowi, Yakobo Lema, Victor Katiti, Michael J Mahande, Elizabeth F. Msoka, Dominik Stelzle, Andrea S Winkler, and Blandina T. Mmbaga
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CYSTINET‐Africa ,neurocysticercosis ,seizures ,Taenia solium ,Tanzania ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Objective Taenia solium (T. solium) neurocysticercosis (NCC) affects the central nervous system and is associated with 30% of acquired epilepsy in some endemic areas. Epilepsy is a stigmatizing disease in many societies and people with epilepsy (PWE) and their families experience discrimination. This study aimed to explore the knowledge, perceptions, and experiences of epilepsy among PWE and their caregivers attending mental health clinics. Methods In T. solium endemic areas of Tanzania, PWE and their caregivers attending mental health clinics were identified and their informed consent was sought prior to study participation. In‐depth interviews were conducted in Swahili language and analyzed thematically. The coding was undertaken by two independent researchers using NVivo (Version 12, QSR International). Results Thirty‐eight participants were interviewed. Three themes were identified during the analysis, namely, knowledge about epilepsy; perception of epilepsy; and experience with epilepsy among PWE and their caregivers. Participants commonly defined epilepsy as a “falling disease,” perceived to be caused by witchcraft, and were unaware of the association between T. solium and epilepsy. Stigmatization of epilepsy was reported as a problem. Reported treatment patterns after the initial onset of epilepsy varied widely; however, patients usually began treatment with traditional healing methods, and only later opted for biomedical treatment. Patients had generally poor adherence to antiseizure medication, which could be caused by inadequate knowledge or irregular supply. Significance Level of knowledge about epilepsy was low, and NCC was not mentioned as a cause of epilepsy among participants. Epilepsy was generally perceived to be the result of witchcraft, evil spirits, or curses. Health education is needed, including an explanation of the model of T. solium transmission and the insistence on hygiene measures. This could reduce the number of new infections with T. solium, improve access to prompt biomedical treatment, and improve the lives of PWE.
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- 2023
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43. Effects of a passive upper-body exoskeleton on whole-body kinematics, leg muscle activity, and discomfort during a carrying task.
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Gabriela Garcia, Paul Gonzalo Arauz, Isabel Alvarez, Nicolas Encalada, Shirley Vega, Marco Baldo, and Bernard J Martin
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Medicine ,Science - Abstract
ObjectiveTo compare whole-body kinematics, leg muscle activity, and discomfort while performing a 10-min carrying task with and without a passive upper-body exoskeleton (CarrySuitⓇ), for both males and females.BackgroundDiverse commercial passive exoskeletons have appeared on the market claiming to assist lifting or carrying task. However, evidence of their impact on kinematics, muscle activity, and discomfort while performing these tasks are necessary to determine their benefits and/or limitations.MethodSixteen females and fourteen males carried a 15kg load with and without a passive exoskeleton during 10-min over a round trip route, in two non-consecutive days. Whole-body kinematics and leg muscle activity were evaluated for each condition. In addition, leg discomfort ratings were quantified before and immediately after the task.ResultsThe gastrocnemius and vastus lateralis muscle activity remained constant over the task with the exoskeleton. Without the exoskeleton a small decrease of gastrocnemius median activation was observed regardless of sex, and a small increase in static vastus lateralis activation was observed only for females. Several differences in sagittal, frontal, and transverse movements' ranges of motion were found between conditions and over the task. With the exoskeleton, ROM in the sagittal plane increased over time for the right ankle and pelvis for both sexes, and knees for males only. Thorax ROMs in the three planes were higher for females only when using the exoskeleton. Leg discomfort was lower with the exoskeleton than without.ConclusionThe results revealed a positive impact on range of motion, leg muscle activity, and discomfort of the tested exoskeleton.
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- 2024
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44. Staufen1 controls mitochondrial metabolism via HIF2α in embryonal rhabdomyosarcoma and promotes tumorigenesis
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Almasi, Shekoufeh, SarmastiEmami, Sahar, Baird, Stephen, Ning, Zhibin, Figeys, Daniel, Côté, Jocelyn, Cowan, Kyle N., and Jasmin, Bernard J.
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- 2023
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45. Taxonomic re-evaluation of African anuran trypanosomes with the redescription and molecular diagnosis of Trypanosoma (Trypanosoma) nelspruitense Laveran, 1904 and Trypanosoma (Haematomonas) grandicolor Pienaar, 1962
- Author
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Bernard J. Jordaan, Louis H. du Preez, and Edward C. Netherlands
- Subjects
Amietia delalandii ,blood parasite ,frog ,molecular characterization ,morphometrics ,phylogeny ,Xenopus laevis ,Biochemistry ,QD415-436 ,Infectious and parasitic diseases ,RC109-216 ,Microbiology ,QR1-502 - Abstract
The aquatic and terrestrial clades of species of Trypanosoma could provide insight into the evolutionary history of the genus, as well as complementary information for biomedical studies of medically and economically important species of Trypanosoma. The ecological interactions and phylogeny of aquatic trypanosomes are currently not well-understood, mostly due to their complex life cycles and a deficiency of data. The species of Trypanosoma from African anuran hosts are of the least understood taxa in the genus. Trypanosomes were collected from South African frogs and subjected to morphological and phylogenetic analyses. This study redescribes Trypanosoma (Trypanosoma) nelspruitense Laveran, 1904 and Trypanosoma (Haematomonas) grandicolor Pienaar, 1962, with morphological and molecular data. The present study aims to create a platform for further future research on African anuran trypanosomes.
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- 2023
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46. A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
- Author
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Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, and for the Family Cancer Clinics of Australia
- Subjects
Suspected Lynch syndrome ,DNA mismatch repair deficiency ,Colorectal cancer ,Endometrial cancer ,Sebaceous skin tumor ,Lynch syndrome ,Medicine - Abstract
Abstract Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (SLS). SLS cases (n = 135) were recruited from Family Cancer Clinics across Australia and New Zealand. Targeted panel sequencing was performed on tumor (n = 137; 80×CRCs, 33×ECs and 24xSSTs) and matched blood-derived DNA to assess for microsatellite instability status, tumor mutation burden, COSMIC tumor mutational signatures and to identify germline and somatic MMR gene variants. MMR immunohistochemistry (IHC) and MLH1 promoter methylation were repeated. In total, 86.9% of the 137 SLS tumors could be resolved into established subtypes. For 22.6% of these resolved SLS cases, primary MLH1 epimutations (2.2%) as well as previously undetected germline MMR pathogenic variants (1.5%), tumor MLH1 methylation (13.1%) or false positive dMMR IHC (5.8%) results were identified. Double somatic MMR gene mutations were the major cause of dMMR identified across each tumor type (73.9% of resolved cases, 64.2% overall, 70% of CRC, 45.5% of ECs and 70.8% of SSTs). The unresolved SLS tumors (13.1%) comprised tumors with only a single somatic (7.3%) or no somatic (5.8%) MMR gene mutations. A tumor-focused testing approach reclassified 86.9% of SLS into Lynch syndrome, sporadic dMMR or MMR-proficient cases. These findings support the incorporation of tumor sequencing and alternate MLH1 methylation assays into clinical diagnostics to reduce the number of SLS patients and provide more appropriate surveillance and screening recommendations.
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- 2023
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47. Association between acute disease severity and one-year quality of life among post-hospitalisation COVID-19 patients: Coalition VII prospective cohort study
- Author
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Rosa, Regis Goulart, Cavalcanti, Alexandre Biasi, Azevedo, Luciano César Pontes, Veiga, Viviane Cordeiro, de Souza, Denise, dos Santos, Rosa da Rosa Minho, Schardosim, Raíne Fogliati de Carli, Rech, Gabriela Soares, Trott, Geraldine, Schneider, Daniel, Robinson, Caroline Cabral, Haubert, Tainá Aparecida, Pallaoro, Victoria Emanuele Lobo, Brognoli, Liége Gregoletto, de Souza, Ana Paula, Costa, Lauren Sezerá, Barroso, Bruna Machado, Pelliccioli, Melissa Pezzetti, Gonzaga, Janine, Studier, Nicole dos Santos, Dagnino, Ana Paula Aquistapase, Neto, Juliana de Mesquita, da Silva, Sabrina Souza, Gimenes, Bruna dos Passos, dos Santos, Vanessa Brzoskowski, Estivalete, Gabriel Pozza Muller, Pellegrino, Carolina de Moraes, Polanczyk, Carisi Anne, Kawano-Dourado, Letícia, Tomazini, Bruno Martins, Lisboa, Thiago Costa, Teixeira, Cassiano, Zampieri, Fernando Godinho, Zavascki, Alexandre Prehn, Gersh, Bernard J., Avezum, Álvaro, Machado, Flávia Ribeiro, Berwanger, Otavio, Lopes, Renato Delascio, and Falavigna, Maicon
- Published
- 2023
- Full Text
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48. Development and Implementation of a Low-Cost Desktop Learning Module for Double Pipe Heat Exchange
- Author
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Reynolds, Olivia May, Khan, Aminul Islam, Thiessen, David B., Dutta, Prashanta, Adesope, Olusola O., and Van Wie, Bernard J.
- Abstract
The development, testing, and classroom implementation of a low-cost, reproducible, desktop sized, highly visual double-pipe heat exchanger are presented. Quantitative measurements with the module reveal its usefulness for demonstrating basic and advanced convective heat transfer theory while worksheet-guided inquiries promote student engagement. Results from students' conceptual and motivational assessments show the module and associated activities improve student conceptual understanding and student confidence and engagement.
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- 2022
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49. QUBIC Experiment Toward the First Light
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D’Alessandro, G., Battistelli, E. S., de Bernardis, P., De Petris, M., Gamboa Lerena, M. M., Grandsire, L., Hamilton, J.-Ch., Marnieros, S., Masi, S., Mennella, A., Mousset, L., O’Sullivan, C., Piat, M., Tartari, A., Torchinsky, S. A., Voisin, F., Zannoni, M., Ade, P., Alberro, J. G., Almela, A., Amico, G., Arnaldi, L. H., Auguste, D., Aumont, J., Azzoni, S., Banfi, S., Baù, A., Bélier, B., Bennett, D., Bergé, L., Bernard, J.-Ph., Bersanelli, M., Bigot-Sazy, M.-A., Bonaparte, J., Bonis, J., Bunn, E., Burke, D., Buzi, D., Cavaliere, F., Chanial, P., Chapron, C., Charlassier, R., Cobos Cerutti, A. C., Columbro, F., Coppolecchia, A., De Gasperis, G., De Leo, M., Dheilly, S., Duca, C., Dumoulin, L., Etchegoyen, A., Fasciszewski, A., Ferreyro, L. P., Fracchia, D., Franceschet, C., Ganga, K. M., García, B., García Redondo, M. E., Gaspard, M., Gayer, D., Gervasi, M., Giard, M., Gilles, V., Giraud-Heraud, Y., Gómez Berisso, M., González, M., Gradziel, M., Hampel, M. R., Harari, D., Henrot-Versillé, S., Incardona, F., Jules, E., Kaplan, J., Kristukat, C., Lamagna, L., Loucatos, S., Louis, T., Maffei, B., Marty, W., Mattei, A., May, A., McCulloch, M., Mele, L., Melo, D., Montier, L., Mundo, L. M., Murphy, J. A., Murphy, J. D., Nati, F., Olivieri, E., Oriol, C., Paiella, A., Pajot, F., Passerini, A., Pastoriza, H., Pelosi, A., Perbost, C., Perciballi, M., Pezzotta, F., Piacentini, F., Piccirillo, L., Pisano, G., Platino, M., Polenta, G., Prêle, D., Presta, G., Puddu, R., Rambaud, D., Rasztocky, E., Ringegni, P., Romero, G. E., Salum, J. M., Schillaci, A., Scóccola, C. G., Scully, S., Spinelli, S., Stankowiak, G., Stolpovskiy, M., Supanitsky, A. D., Thermeau, J.-P., Timbie, P., Tomasi, M., Tucker, G., Tucker, C., Viganò, D., Vittorio, N., Wicek, F., Wright, M., and Zullo, A.
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- 2022
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50. Optimal advertising for a generalized Vidale–Wolfe response model
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Yang, Yanwu, Feng, Baozhu, Salminen, Joni, and Jansen, Bernard J.
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- 2022
- Full Text
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