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43,344 results on '"Russell, J."'

108. Interindividual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivors – a genome-wide association study: results from PanCareLIFE

Author

van der Perk, M.E. Madeleine, Broer, Linda, Yasui, Yutaka, Laven, Joop S.E., Robison, Leslie L., Tissing, Wim J.E., Versluys, Birgitta, Bresters, Dorine, Kaspers, Gertjan J.L., Lambalk, Cornelis B., Overbeek, Annelies, Loonen, Jacqueline J., Beerendonk, Catharina C.M., Byrne, Julianne, Berger, Claire, Clemens, Eva, van Dulmen-den Broeder, Eline, Dirksen, Uta, van der Pal, Helena J., de Vries, Andrica C.H., Winther, Jeanette Falck, Ranft, Andreas, Fosså, Sophie D., Grabow, Desiree, Muraca, Monica, Kaiser, Melanie, Kepák, Tomáš, Kruseova, Jarmila, Modan-Moses, Dalit, Spix, Claudia, Zolk, Oliver, Kaatsch, Peter, Kremer, Leontien C.M., Brooke, Russell J., Wang, Fan, Baedke, Jessica L., Uitterlinden, André G., Bos, Annelies M.E., van Leeuwen, Flora E., Ness, Kirsten K., Hudson, Melissa M., van der Kooi, Anne-Lotte L.F., and van den Heuvel-Eibrink, Marry M.

Published
2024
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112. Reduction of prevalence of patients meeting the criteria for metabolic syndrome with tirzepatide: a post hoc analysis from the SURPASS Clinical Trial Program

Author

Stephen J. Nicholls, Santiago Tofé, Carel W. le Roux, David A. D’Alessio, Russell J. Wiese, Imre Pavo, Katelyn Brown, Govinda J. Weerakkody, Meltem Zeytinoglu, and Irene C. Romera

Subjects
Metabolic syndrome, Type 2 diabetes, Tirzepatide, Incretin, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background Metabolic syndrome is characterized as the co-occurrence of interrelated cardiovascular risk factors, including insulin resistance, hyperinsulinemia, abdominal obesity, dyslipidemia and hypertension. Once weekly tirzepatide is approved in the US and EU for the treatment of type 2 diabetes (T2D) and obesity. In the SURPASS clinical trial program for T2D, tirzepatide demonstrated greater improvements in glycemic control, body weight reduction and other cardiometabolic risk factors versus placebo, subcutaneous semaglutide 1 mg, insulin degludec, and insulin glargine. This post hoc analysis assessed the effect of tirzepatide use on the prevalence of patients meeting the criteria for metabolic syndrome across SURPASS 1–5. Methods Metabolic syndrome was defined as having ≥ 3 of 5 criteria according to the US National Cholesterol Education Program: Adult Treatment Panel III. Analyses were based on on-treatment data at the primary endpoint from patients adherent to treatment (taking ≥ 75% study drug). A logistic regression model with metabolic syndrome status as the response variable, metabolic syndrome status at the baseline visit as an adjustment, and randomized treatment as fixed explanatory effect was used. The effect of tirzepatide use on the prevalence of patients meeting the criteria for metabolic syndrome by categorical weight loss, background medication and gender were assessed. Results In SURPASS, the prevalence of patients meeting the criteria for metabolic syndrome at baseline was 67–88% across treatment groups with reductions at the primary endpoint to 38–64% with tirzepatide versus 64–82% with comparators. Reductions in the prevalence of patients meeting the criteria for metabolic syndrome was significantly greater with all tirzepatide doses versus placebo, semaglutide 1 mg, insulin glargine, and insulin degludec (p

Published
2024
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113. The genetic architecture of youth anxiety: a study protocol

Author

Laina McAusland, Christie L. Burton, Alexa Bagnell, Khrista Boylan, Taylor Hatchard, Patricia Lingley-Pottie, Abdullah Al Maruf, Patrick McGrath, Amanda S. Newton, Karen Rowa, Russell J. Schachar, S-M Shaheen, Sam Stewart, Paul D. Arnold, Jennifer Crosbie, Manuel Mattheisen, Noam Soreni, S. Evelyn Stewart, and Sandra Meier

Subjects
Genetics, Anxiety disorders, Child & adolescent psychiatry, Psychiatry, RC435-571
Abstract

Abstract Background Anxiety disorders are the most common psychiatric problems among Canadian youth and typically have an onset in childhood or adolescence. They are characterized by high rates of relapse and chronicity, often resulting in substantial impairment across the lifespan. Genetic factors play an important role in the vulnerability toward anxiety disorders. However, genetic contribution to anxiety in youth is not well understood and can change across developmental stages. Large-scale genetic studies of youth are needed with detailed assessments of symptoms of anxiety disorders and their major comorbidities to inform early intervention or preventative strategies and suggest novel targets for therapeutics and personalization of care. Methods The Genetic Architecture of Youth Anxiety (GAYA) study is a Pan-Canadian effort of clinical and genetic experts with specific recruitment sites in Calgary, Halifax, Hamilton, Toronto, and Vancouver. Youth aged 10–19 (n = 13,000) will be recruited from both clinical and community settings and will provide saliva samples, complete online questionnaires on demographics, symptoms of mental health concerns, and behavioural inhibition, and complete neurocognitive tasks. A subset of youth will be offered access to a self-managed Internet-based cognitive behavioral therapy resource. Analyses will focus on the identification of novel genetic risk loci for anxiety disorders in youth and assess how much of the genetic risk for anxiety disorders is unique or shared across the life span. Discussion Results will substantially inform early intervention or preventative strategies and suggest novel targets for therapeutics and personalization of care. Given that the GAYA study will be the biggest genomic study of anxiety disorders in youth in Canada, this project will further foster collaborations nationally and across the world.

Published
2024
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114. Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis

Author

Abrar Ahmad, Lee-Ling Lim, Mario Luca Morieri, Claudia Ha-ting Tam, Feifei Cheng, Tinashe Chikowore, Monika Dudenhöffer-Pfeifer, Hugo Fitipaldi, Chuiguo Huang, Sarah Kanbour, Sudipa Sarkar, Robert Wilhelm Koivula, Ayesha A. Motala, Sok Cin Tye, Gechang Yu, Yingchai Zhang, Michele Provenzano, Diana Sherifali, Russell J. de Souza, Deirdre Kay Tobias, ADA/EASD PMDI, Maria F. Gomez, Ronald C. W. Ma, and Nestoras Mathioudakis

Subjects
Medicine
Abstract

Abstract Background Precision medicine has the potential to improve cardiovascular disease (CVD) risk prediction in individuals with Type 2 diabetes (T2D). Methods We conducted a systematic review and meta-analysis of longitudinal studies to identify potentially novel prognostic factors that may improve CVD risk prediction in T2D. Out of 9380 studies identified, 416 studies met inclusion criteria. Outcomes were reported for 321 biomarker studies, 48 genetic marker studies, and 47 risk score/model studies. Results Out of all evaluated biomarkers, only 13 showed improvement in prediction performance. Results of pooled meta-analyses, non-pooled analyses, and assessments of improvement in prediction performance and risk of bias, yielded the highest predictive utility for N-terminal pro b-type natriuretic peptide (NT-proBNP) (high-evidence), troponin-T (TnT) (moderate-evidence), triglyceride-glucose (TyG) index (moderate-evidence), Genetic Risk Score for Coronary Heart Disease (GRS-CHD) (moderate-evidence); moderate predictive utility for coronary computed tomography angiography (low-evidence), single-photon emission computed tomography (low-evidence), pulse wave velocity (moderate-evidence); and low predictive utility for C-reactive protein (moderate-evidence), coronary artery calcium score (low-evidence), galectin-3 (low-evidence), troponin-I (low-evidence), carotid plaque (low-evidence), and growth differentiation factor-15 (low-evidence). Risk scores showed modest discrimination, with lower performance in populations different from the original development cohort. Conclusions Despite high interest in this topic, very few studies conducted rigorous analyses to demonstrate incremental predictive utility beyond established CVD risk factors for T2D. The most promising markers identified were NT-proBNP, TnT, TyG and GRS-CHD, with the highest strength of evidence for NT-proBNP. Further research is needed to determine their clinical utility in risk stratification and management of CVD in T2D.

Published
2024
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115. Effective removal of iron, nutrients, micropollutants, and faecal bacteria in constructed wetlands cotreating mine water and sewage treatment plant effluent

Author

Jidapa Plaimart, Kishor Acharya, Adrian Blackburn, Wojciech Mrozik, Russell J. Davenport, and David Werner

Subjects
constructed wetlands, metals, nutrients, pathogens, river water, wastewater, Environmental technology. Sanitary engineering, TD1-1066
Abstract

Regulators in England and Wales have set new targets under the Environment Act 2021 for freshwater quality by 2038 that include halving the length of rivers polluted by harmful metals from abandoned mines and reducing phosphorus loadings from treated wastewater by 80%. In this context, an intriguing win–win opportunity exists in the removal of iron from abandoned mines and phosphate from small sewage treatment plants by coprecipitation in constructed wetlands (CWs). We investigated such a CW located at Lamesley, Northeast England, which cotreats abandoned coal mine and secondary-treated sewage treatment plant effluents. We assessed the removal of nutrients, heavy metals, organic micropollutants, and faecal coliforms by the CW, and characterized changes in the water bacteriology comprehensively using environmental DNA. The CW effectively removed ammonium-nitrogen, phosphorus, iron, and faecal coliforms by an average of 86, 74, 98, and 75%, respectively, to levels below or insignificantly different from those in the receiving river. The CW also effectively removed micropollutants such as acetaminophen, caffeine, and sulpiride by 70–100%. Molecular microbiology methods showed successful conversion of sewage and mine water microbiomes into a freshwater microbiome. Overall, the CW significantly reduced impacts on the rural water environment with minimal operational requirements. HIGHLIGHTS The CW removed iron from mine water and phosphorus from wastewater by coprecipitation.; The CW effectively removed nutrients, faecal bacteria, and micropollutants.; Dissolved Cu, Zn, Mn, and total dissolved solids were not effectively removed.; The CW converted mine water and sewage microbiomes into a freshwater microbiome.; The CW simultaneously addressed wastewater and mine water pollution issues.;

Published
2024
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119. Design and testing of a humanized porcine donor for xenotransplantation

Author

Anand, Ranjith P., Layer, Jacob V., Heja, David, Hirose, Takayuki, Lassiter, Grace, Firl, Daniel J., Paragas, Violette B., Akkad, Adam, Chhangawala, Sagar, Colvin, Robert B., Ernst, Russell J., Esch, Nicholas, Getchell, Kristen, Griffin, Alexandra K., Guo, Xiaoyun, Hall, Katherine C., Hamilton, Paula, Kalekar, Lokesh A., Kan, Yinan, Karadagi, Ahmad, Li, Feng, Low, Susan C., Matheson, Rudy, Nehring, Claudia, Otsuka, Ryo, Pandelakis, Matthew, Policastro, Robert A., Pols, Rebecca, Queiroz, Luis, Rosales, Ivy A., Serkin, William T., Stiede, Kathryn, Tomosugi, Toshihide, Xue, Yongqiang, Zentner, Gabriel E., Angeles-Albores, David, Chris Chao, J., Crabtree, Juliet N., Harken, Sierra, Hinkle, Nicole, Lemos, Tania, Li, Mailin, Pantano, Lorena, Stevens, Denise, Subedar, Omar D., Tan, Xiaoqing, Yin, Shiyi, Anwar, Imran J., Aufhauser, David, Capuano, Saverio, Kaufman, Dixon B., Knechtle, Stuart J., Kwun, Jean, Shanmuganayagam, Dhanansayan, Markmann, James F., Church, George M., Curtis, Mike, Kawai, Tatsuo, Youd, Michele E., and Qin, Wenning

Published
2023
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120. Universal DNA methylation age across mammalian tissues

Author

Lu, A. T., Fei, Z., Haghani, A., Robeck, T. R., Zoller, J. A., Li, C. Z., Lowe, R., Yan, Q., Zhang, J., Vu, H., Ablaeva, J., Acosta-Rodriguez, V. A., Adams, D. M., Almunia, J., Aloysius, A., Ardehali, R., Arneson, A., Baker, C. S., Banks, G., Belov, K., Bennett, N. C., Black, P., Blumstein, D. T., Bors, E. K., Breeze, C. E., Brooke, R. T., Brown, J. L., Carter, G. G., Caulton, A., Cavin, J. M., Chakrabarti, L., Chatzistamou, I., Chen, H., Cheng, K., Chiavellini, P., Choi, O. W., Clarke, S. M., Cooper, L. N., Cossette, M. L., Day, J., DeYoung, J., DiRocco, S., Dold, C., Ehmke, E. E., Emmons, C. K., Emmrich, S., Erbay, E., Erlacher-Reid, C., Faulkes, C. G., Ferguson, S. H., Finno, C. J., Flower, J. E., Gaillard, J. M., Garde, E., Gerber, L., Gladyshev, V. N., Gorbunova, V., Goya, R. G., Grant, M. J., Green, C. B., Hales, E. N., Hanson, M. B., Hart, D. W., Haulena, M., Herrick, K., Hogan, A. N., Hogg, C. J., Hore, T. A., Huang, T., Izpisua Belmonte, J. C., Jasinska, A. J., Jones, G., Jourdain, E., Kashpur, O., Katcher, H., Katsumata, E., Kaza, V., Kiaris, H., Kobor, M. S., Kordowitzki, P., Koski, W. R., Krützen, M., Kwon, S. B., Larison, B., Lee, S. G., Lehmann, M., Lemaitre, J. F., Levine, A. J., Li, C., Li, X., Lim, A. R., Lin, D. T. S., Lindemann, D. M., Little, T. J., Macoretta, N., Maddox, D., Matkin, C. O., Mattison, J. A., McClure, M., Mergl, J., Meudt, J. J., Montano, G. A., Mozhui, K., Munshi-South, J., Naderi, A., Nagy, M., Narayan, P., Nathanielsz, P. W., Nguyen, N. B., Niehrs, C., O’Brien, J. K., O’Tierney Ginn, P., Odom, D. T., Ophir, A. G., Osborn, S., Ostrander, E. A., Parsons, K. M., Paul, K. C., Pellegrini, M., Peters, K. J., Pedersen, A. B., Petersen, J. L., Pietersen, D. W., Pinho, G. M., Plassais, J., Poganik, J. R., Prado, N. A., Reddy, P., Rey, B., Ritz, B. R., Robbins, J., Rodriguez, M., Russell, J., Rydkina, E., Sailer, L. L., Salmon, A. B., Sanghavi, A., Schachtschneider, K. M., Schmitt, D., Schmitt, T., Schomacher, L., Schook, L. B., Sears, K. E., Seifert, A. W., Seluanov, A., Shafer, A. B. A., Shanmuganayagam, D., Shindyapina, A. V., Simmons, M., Singh, K., Sinha, I., Slone, J., Snell, R. G., Soltanmaohammadi, E., Spangler, M. L., Spriggs, M. C., Staggs, L., Stedman, N., Steinman, K. J., Stewart, D. T., Sugrue, V. J., Szladovits, B., Takahashi, J. S., Takasugi, M., Teeling, E. C., Thompson, M. J., Van Bonn, B., Vernes, S. C., Villar, D., Vinters, H. V., Wallingford, M. C., Wang, N., Wayne, R. K., Wilkinson, G. S., Williams, C. K., Williams, R. W., Yang, X. W., Yao, M., Young, B. G., Zhang, B., Zhang, Z., Zhao, P., Zhao, Y., Zhou, W., Zimmermann, J., Ernst, J., Raj, K., and Horvath, S.

Published
2023
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122. Analysis of a Tau Neutrino Origin for the Near-Horizon Air Shower Events Observed by the Fourth Flight of the Antarctic Impulsive Transient Antenna (ANITA)

Author

Prechelt, R., Wissel, S. A., Romero-Wolf, A., Burch, C., Gorham, P. W., Allison, P., Alvarez-Muñiz, J., Banerjee, O., Batten, L., Beatty, J. J., Belov, K., Besson, D. Z., Binns, W. R., Bugaev, V., Cao, P., Carvalho Jr., W., Chen, C. H., Chen, P., Chen, Y., Clem, J. M., Connolly, A., Cremonesi, L., Dailey, B., Deaconu, C., Dowkontt, P. F., Fox, B. D., Gordon, J. W. H., Hast, C., Hill, B., Hsu, S. Y., Huang, J. J., Hughes, K., Hupe, R., Israel, M. H., Liewer, K. M., Liu, T. C., Ludwig, A. B., Macchiarulo, L., Matsuno, S., McBride, K., Miki, C., Mulrey, K., Nam, J., Naudet, C., Nichol, R. J., Novikov, A., Oberla, E., Prohira, S., Rauch, B. F., Ripa, J., Roberts, J. M., Rotter, B., Russell, J. W., Saltzberg, D., Seckel, D., Schoorlemmer, H., Shiao, J., Stafford, S., Stockham, J., Stockham, M., Strutt, B., Sutherland, M. S., Varner, G. S., Vieregg, A. G., Wang, N., Wang, S. H., Zas, E., and Zeolla, A.

Subjects
Astrophysics - High Energy Astrophysical Phenomena, High Energy Physics - Experiment
Abstract

We study in detail the sensitivity of the Antarctic Impulsive Transient Antenna (ANITA) to possible $\nu_\tau$ point source fluxes detected via $\tau$-lepton-induced air showers. This investigation is framed around the observation of four upward-going extensive air shower events very close to the horizon seen in ANITA-IV. We find that these four upgoing events are not observationally inconsistent with $\tau$-induced EASs from Earth-skimming $\nu_\tau$, both in their spectral properties as well as in their observed locations on the sky. These four events, as well as the overall diffuse and point source exposure to Earth-skimming $\nu_\tau$, are also compared against published ultrahigh-energy neutrino limits from the Pierre Auger Observatory. While none of these four events occurred at sky locations simultaneously visible by Auger, the implied fluence necessary for ANITA to observe these events is in strong tension with limits set by Auger across a wide range of energies and is additionally in tension with ANITA's Askaryan in-ice neutrino channel above $10^{19}$ eV. We conclude by discussing some of the technical challenges with simulating and analyzing these near horizon events and the potential for future observatories to observe similar events., Comment: 19 pages, 22 figures, will be published in Physical Review D (PRD)

Published
2021
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126. Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Author

Thomas, Florian P, Brannagan, Thomas H, Butterfield, Russell J, Desai, Urvi, Habib, Ali A, Herrmann, David N, Eichinger, Katy J, Johnson, Nicholas E, Karam, Chafic, Pestronk, Alan, Quinn, Colin, Shy, Michael E, Statland, Jeffrey M, Subramony, Sub H, Walk, David, Stevens-Favorite, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, and Attie, Kenneth M

Subjects
Rare Diseases, Clinical Trials and Supportive Activities, Charcot-Marie-Tooth Disease, Neurosciences, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo determine whether locally acting ACE-083 is safe, well tolerated, and increases muscle volume, motor function, and quality of life (QoL) in adults with Charcot-Marie-Tooth disease (CMT) type 1.MethodsThis phase 2 study enrolled adults with CMT1 or CMTX (N=63). Part 1 was open-label and evaluated safety and tolerability of different dose levels of ACE-083 for use in Part 2. Part 2 was a randomized, placebo-controlled, 6-month study of 240 mg/muscle ACE-083 injected bilaterally in the tibialis anterior muscle, followed by a 6-month, open-label extension in which all patients received ACE-083. Pharmacodynamic endpoints included total muscle volume (TMV; primary endpoint), contractile muscle volume (CMV), and fat fraction. Additional secondary endpoints included 6-minute walk test, 10-meter walk/run, muscle strength, and QoL. Safety was assessed with treatment-emergent adverse events (TEAEs) and clinical laboratory tests.ResultsIn Part 1 (n=18), ACE-083 was generally safe and well tolerated at all dose levels, with no serious AEs, TEAEs ≥Grade 3, or death reported. In Part 2 (n=45 enrolled, n=44 treated), there was significantly greater change in TMV with ACE-083 compared with placebo (LS mean difference: 13.5%; p = 0.0096). There was significant difference between ACE-083 and placebo for CMV and change in ankle dorsiflexion strength. Fat fraction and all other functional outcomes were not significantly improved by ACE-083. Moderate-to-mild injection-site reactions were the most common TEAEs.ConclusionsDespite significantly increased TMV and CMV, patients with CMT receiving ACE-083 in tibialis anterior muscles did not demonstrate greater functional improvement compared with those receiving placebo.Classification of evidenceThis study provides Class II evidence that intramuscular ACE-083 is safe, well tolerated, and increases total muscle volume after 6 months of treatment in adults with CMT1 or CMTX.

Published
2022

127. Trump, Obama, Bush: Impacts of Presidential Elections on College Student Mental Health

Author

Merrill, Brett M., Vogeler, Heidi, Kirchhoefer, Jessica, Tass, Shannon, Erekson, Davey, Beecher, Mark, Worthen, Vaughn, Hobbs, Klint, Boardman, R. D., Bingham, Jennie, Bailey, Russell J., Cox, Jonathan C., Carney, Dever M., Kilcullen, J. Ryan, and Griner, Derek

Abstract

Research, media sources, and polls have identified negative effects associated with presidential elections. The aim of this research was to investigate associations between US presidential election results and mental health outcomes in university students. This investigation consisted of two independent studies. Study 1 analyzed data collected between the years 2000 and 2016 from students who utilized counseling services (N = 32,506) at a large, private, conservative institution in the western United States. Study 2 analyzed data collected between the years 2010 and 2016 from over 100 university counseling centers across the United States. Upon analyzing the quantitative and qualitative data, the results did not support the findings that presidential elections negatively impact the mental health outcomes of students who receive university counseling services. Furthermore, there was no detectable increase in student distress regardless of election year, age, ethnicity, gender, religion, relationship status, sexual orientation, geographic region, citizenship, and first-generation student status.

Published
2023
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128. Wearable Revolution: Predictive, Preventive, Personalized Medicine (PPPM) Par Excellence

Author

Andrews, Russell J., Golubnitschaja, Olga, Series Editor, Baban, Babak, Editorial Board Member, Bubnov, Rostylav, Editorial Board Member, Costigliola, Vincenzo, Editorial Board Member, Grech, Godfrey, Editorial Board Member, Mozaffari, Mahmood, Editorial Board Member, Parini, Paolo, Editorial Board Member, Paul, Friedermann, Editorial Board Member, Yoo, Byong Chul, Editorial Board Member, Zhan, Xianquan, Editorial Board Member, Andrews, Russell J., Editorial Board Member, Fröhlich, Holger, Editorial Board Member, Kokubo, Yoshihiro, Editorial Board Member, Krapfenbauer, Kurt, Editorial Board Member, Podbielska, Halina, Editorial Board Member, Tasker, R. Andrew, Editorial Board Member, Nardini, Christine, Editorial Board Member, Chaari, Lotfi, Editorial Board Member, Polivka Jr., Jiri, Editorial Board Member, Mandel, Silvia, Editorial Board Member, Erb, Carl, Editorial Board Member, Wang, Wei, Editorial Board Member, and Kapalla, Marko, editor

Published
2023
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129. Probing cool giants in unresolved galaxies using fluctuation eigenspectra: a demonstration using high-resolution MUSE observations of NGC 5128

Author

Smith, Russell J.

Subjects
Astrophysics - Astrophysics of Galaxies, Astrophysics - Solar and Stellar Astrophysics
Abstract

I describe and demonstrate a new approach to using spectroscopic data to exploit Poisson sampling fluctuations in unresolved stellar populations. The method is introduced using spectra predicted for independent samples of stars from a 10 Gyr population a using a simple stochastic spectral synthesis model. A principal components analysis shows that >99 per cent of the spectral variation in the red-optical can be attributed to just three "fluctuation eigenspectra", which can be related to the number of giant stars present in each sample, and their distribution along the isochrone. The first eigenspectrum effectively encodes the spectrum of the coolest giant branch stars, and is equivalent to the ratio between high- and low-flux pixels discussed in previous literature. The second and third eigenspectra carry higher-order information from which the giant-star spectral sequence can in principle be reconstructed. I demonstrate the method in practice using observations of part of NGC 5128, obtained with the MUSE narrow-field adaptive optics mode. The expected first eigenspectrum is easily recovered from the data, and closely matches the model results except for small differences around the Ca II triplet. The second eigenspectrum is below the noise level of the present observations. A future application of the method would be to the cores of giant ellipticals to probe the spectra of cool giant stars at high metallicity and with element abundance patterns not accessible in the Milky Way., Comment: MNRAS accepted

Published
2021
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130. A revision to the theory of organic fiducial inference

Author

Bowater, Russell J.

Subjects
Statistics - Other Statistics, Statistics - Methodology
Abstract

A principle is modified that underlies the theory of organic fiducial inference as this theory was presented in an earlier paper. This modification, which is arguably a natural one to make, allows Bayesian inference to sometimes have a minor role within the theory in question and, as a consequence, allows more information from the data to be incorporated into the way a full conditional fiducial density is defined in certain cases. The new version of the principle concerned is applied to examples that were analysed previously using the older version of this principle., Comment: Possibly the final version. arXiv admin note: text overlap with arXiv:1901.08589

Published
2021

131. Unified chemical theory of structure and bonding in elemental metals

Author

Sun, Yuanhui, Zhao, Lei, Pickard, Chris J., Hemley, Russell J., Zheng, Yonghao, and Miao, Maosheng

Subjects
Condensed Matter - Materials Science, Condensed Matter - Other Condensed Matter
Abstract

Most elemental metals under ambient conditions adopt simple structures such as BCC, FCC and HCP in specific groupings across the Periodic Table, and on compression, many of these elements undergo transitions to surprisingly complex structures, including open and low-symmetry phases not expected from conventional free-electron based theories of metals. First-principles calculations have been able to reproduce many observed structures and transitions, but a unified, predictive theory of bonding that underlies this behavior is not yet in hand. We propose a remarkably simple theory based on large-scale high-throughput calculations of the elements over a broad range of thermodynamic conditions. The results broaden the conventional concept of metallic bonding with a new perspective that both explains the stability of different simple structures as well as lower symmetry phases arising from electron localization at interstitial sites in these structures. The success of this simple framework reveals the important role of chemical interactions in governing the structures and electronic properties of simple metals.

Published
2021

132. A Little Bit of Carbon Can do a Lot for Superconductivity in H$_3$S

Author

Wang, Xiaoyu, Bi, Tiange, Hilleke, Katerina P., Lamichhane, Anmol, Hemley, Russell J., and Zurek, Eva

Subjects
Condensed Matter - Superconductivity
Abstract

First-principles calculations were carried out to provide a chemical basis for proposed structures associated with the recently reported room-temperature superconductivity in a carbonaceous sulfur hydride material under pressure. Calculations were performed on supercells of H$_3$S doped with 1.85-25\% carbon, corresponding to SH$_3$~$\rightarrow$~CH$_3$ or SH$_3$~$\rightarrow$~CH$_4$ substitutions, primarily at pressures of 270 GPa where the maximum critical temperature, $T_c$, has been reported. In the first type of substitution, the carbon atoms can be six-fold coordinated, stabilizing a CH$_6$ configuration within the cubic H$_3$S framework structure that forms under pressure. In the second, the carbon can be four-fold coordinated as methane intercalated into the H-S lattice, with or without an additional hydrogen in the framework. The results indicate that unusual local bonding configurations with respect to carbon can be stabilized under pressure. The doping breaks degenerate bands, lowering the density of states at the Fermi level ($N_F$), and localizing electrons in C-H bonds. Low levels of CH$_4$ doping do not increase $N_F$ to values as high as those calculated for $Im\bar{3}m$ H$_3$S, but they do result in a larger logarithmic average phonon frequency, and an electron-phonon coupling parameter comparable to that of $R3m$ H$_3$S. The $T_c$s estimated for carbon doping levels ranging from 1.85-5.7\% are compatible with experimental measurements for the C-S-H superconductor.

Published
2021
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134. Atypical Brain Aging and Its Association With Working Memory Performance in Major Depressive Disorder

Author

Adamson, Chris, Adler, Sophie, Alexander-Bloch, Aaron F., Anagnostou, Evdokia, Anderson, Kevin M., Areces-Gonzalez, Ariosky, Astle, Duncan E., Auyeung, Bonnie, Ayub, Muhammad, Bae, Jong Bin, Ball, Gareth, Baron-Cohen, Simon, Beare, Richard, Bedford, Saashi A., Benegal, Vivek, Bethlehem, Richard A.I., Beyer, Frauke, Blangero, John, Cábez, Manuel Blesa, Boardman, James P., Borzage, Matthew, Bosch-Bayard, Jorge F., Bourke, Niall, Bullmore, Edward T., Calhoun, Vince D., Chakravarty, Mallar M., Chen, Christina, Chertavian, Casey, Chetelat, Gaël, Chong, Yap S., Corvin, Aiden, Costantino, Manuela, Courchesne, Eric, Crivello, Fabrice, Cropley, Vanessa L., Crosbie, Jennifer, Crossley, Nicolas, Delarue, Marion, Delorme, Richard, Desrivieres, Sylvane, Devenyi, Gabriel, Di Biase, Maria A., Dolan, Ray, Donald, Kirsten A., Donohoe, Gary, Dorfschmidt, Lena, Dunlop, Katharine, Edwards, Anthony D., Elison, Jed T., Ellis, Cameron T., Elman, Jeremy A., Eyler, Lisa, Fair, Damien A., Fletcher, Paul C., Fonagy, Peter, Franz, Carol E., Galan-Garcia, Lidice, Gholipour, Ali, Giedd, Jay, Gilmore, John H., Glahn, David C., Goodyer, Ian M., Grant, P.E., Groenewold, Nynke A., Gudapati, Shreya, Gunning, Faith M., Gur, Raquel E., Gur, Ruben C., Hammill, Christopher F., Hansson, Oskar, Hedden, Trey, Heinz, Andreas, Henson, Richard N., Heuer, Katja, Hoare, Jacqueline, Holla, Bharath, Holmes, Avram J., Huang, Hao, Ipser, Jonathan, Jack, Clifford R., Jr., Jackowski, Andrea P., Jia, Tianye, Jones, David T., Jones, Peter B., Kahn, Rene S., Karlsson, Hasse, Karlsson, Linnea, Kawashima, Ryuta, Kelley, Elizabeth A., Kern, Silke, Kim, Ki-Woong, Kitzbichler, Manfred G., Kremen, William S., Lalonde, François, Landeau, Brigitte, Lerch, Jason, Lewis, John D., Li, Jiao, Liao, Wei, Liston, Conor, Lombardo, Michael V., Lv, Jinglei, Mallard, Travis T., Marcelis, Machteld, Mathias, Samuel R., Mazoyer, Bernard, McGuire, Philip, Meaney, Michael J., Mechelli, Andrea, Misic, Bratislav, Morgan, Sarah E., Mothersill, David, Ortinau, Cynthia, Ossenkoppele, Rik, Ouyang, Minhui, Palaniyappan, Lena, Paly, Leo, Pan, Pedro M., Pantelis, Christos, Park, Min Tae M., Paus, Tomas, Pausova, Zdenka, Paz-Linares, Deirel, Binette, Alexa Pichet, Pierce, Karen, Qian, Xing, Qiu, Anqi, Raznahan, Armin, Rittman, Timothy, Rodrigue, Amanda, Rollins, Caitlin K., Romero-Garcia, Rafael, Ronan, Lisa, Rosenberg, Monica D., Rowitch, David H., Salum, Giovanni A., Satterthwaite, Theodore D., Schaare, H. Lina, Schabdach, Jenna, Schachar, Russell J., Schöll, Michael, Schultz, Aaron P., Seidlitz, Jakob, Sharp, David, Shinohara, Russell T., Skoog, Ingmar, Smyser, Christopher D., Sperling, Reisa A., Stein, Dan J., Stolicyn, Aleks, Suckling, John, Sullivan, Gemma, Thyreau, Benjamin, Toro, Roberto, Traut, Nicolas, Tsvetanov, Kamen A., Turk-Browne, Nicholas B., Tuulari, Jetro J., Tzourio, Christophe, Vachon-Presseau, Étienne, Valdes-Sosa, Mitchell J., Valdes-Sosa, Pedro A., Valk, Sofie L., van Amelsvoort, Therese, Vandekar, Simon N., Vasung, Lana, Vértes, Petra E., Victoria, Lindsay W., Villeneuve, Sylvia, Villringer, Arno, Vogel, Jacob W., Wagstyl, Konrad, Wang, Yin-Shan S., Warfield, Simon K., Warrier, Varun, Westman, Eric, Westwater, Margaret L., Whalley, Heather C., White, Simon R., Witte, A. Veronica, Yang, Ning, Yeo, B.T. Thomas, Yun, Hyuk Jin, Zalesky, Andrew, Zar, Heather J., Zettergren, Anna, Zhou, Juan H., Ziauddeen, Hisham, Zimmerman, Dabriel, Zugman, Andre, Zuo, Xi-Nian N., Ho, Natalie C.W., Nogovitsyn, Nikita, Metzak, Paul, Ballester, Pedro L., Hassel, Stefanie, Rotzinger, Susan, Poppenk, Jordan, Lam, Raymond W., Taylor, Valerie H., Milev, Roumen, Frey, Benicio N., Harkness, Kate L., Addington, Jean, and Kennedy, Sidney H.

Published
2024
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138. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., and Sanna-Cherchi, Simone

Published
2023
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146. Early sex-dependent differences in metabolic profiles of overweight and adiposity in young children: a cross-sectional analysis

Author

Azab, Sandi M, Shanmuganathan, Meera, de Souza, Russell J, Kroezen, Zachary, Desai, Dipika, Williams, Natalie C, Morrison, Katherine M, Atkinson, Stephanie A, Teo, Koon K, Azad, Meghan B, Simons, Elinor, Moraes, Theo J, Mandhane, Piush J, Turvey, Stuart E, Subbarao, Padmaja, Britz-McKibbin, Philip, and Anand, Sonia S

Published
2023
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147. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Author

Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, and Flanigan, Kevin M

Subjects
Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity
Abstract

DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an important diagnostic step for patients who have negative genomic testing but abnormal dystrophin expression in muscle. In this study, muscle biopsies were evaluated from 19 patients with clinical features of a dystrophinopathy, but negative clinical DMD mutation analysis. Reverse transcription-polymerase chain reaction or high-throughput RNA sequencing methods identified 19 mutations with one of three pathogenic pseudoexon types: deep intronic point mutations, deletions or insertions, and translocations. In association with point mutations creating intronic splice acceptor sites, we observed the first examples of DMD pseudo 3'-terminal exon mutations causing high efficiency transcription termination within introns. This connection between splicing and premature transcription termination is reminiscent of U1 snRNP-mediating telescripting in sustaining RNA polymerase II elongation across large genes, such as DMD. We propose a novel classification of three distinct types of mutations identifiable by muscle RNA analysis, each of which differ in potential treatment approaches. Recognition and appropriate characterization may lead to therapies directed toward full-length dystrophin expression for some patients.

Published
2022

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