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https://www.readbyqxmd.com/read/30643258/genome-wide-association-analyses-of-risk-tolerance-and-risky-behaviors-in-over-1-million-individuals-identify-hundreds-of-loci-and-shared-genetic-influences
#1
Richard Karlsson Linnér, Pietro Biroli, Edward Kong, S Fleur W Meddens, Robbee Wedow, Mark Alan Fontana, Maël Lebreton, Stephen P Tino, Abdel Abdellaoui, Anke R Hammerschlag, Michel G Nivard, Aysu Okbay, Cornelius A Rietveld, Pascal N Timshel, Maciej Trzaskowski, Ronald de Vlaming, Christian L Zünd, Yanchun Bao, Laura Buzdugan, Ann H Caplin, Chia-Yen Chen, Peter Eibich, Pierre Fontanillas, Juan R Gonzalez, Peter K Joshi, Ville Karhunen, Aaron Kleinman, Remy Z Levin, Christina M Lill, Gerardus A Meddens, Gerard Muntané, Sandra Sanchez-Roige, Frank J van Rooij, Erdogan Taskesen, Yang Wu, Futao Zhang, Adam Auton, Jason D Boardman, David W Clark, Andrew Conlin, Conor C Dolan, Urs Fischbacher, Patrick J F Groenen, Kathleen Mullan Harris, Gregor Hasler, Albert Hofman, Mohammad A Ikram, Sonia Jain, Robert Karlsson, Ronald C Kessler, Maarten Kooyman, James MacKillop, Minna Männikkö, Carlos Morcillo-Suarez, Matthew B McQueen, Klaus M Schmidt, Melissa C Smart, Matthias Sutter, A Roy Thurik, André G Uitterlinden, Jon White, Harriet de Wit, Jian Yang, Lars Bertram, Dorret I Boomsma, Tõnu Esko, Ernst Fehr, David A Hinds, Magnus Johannesson, Meena Kumari, David Laibson, Patrik K E Magnusson, Michelle N Meyer, Arcadi Navarro, Abraham A Palmer, Tune H Pers, Danielle Posthuma, Daniel Schunk, Murray B Stein, Rauli Svento, Henning Tiemeier, Paul R H J Timmers, Patrick Turley, Robert J Ursano, Gert G Wagner, James F Wilson, Jacob Gratten, James J Lee, David Cesarini, Daniel J Benjamin, Philipp D Koellinger, Jonathan P Beauchamp
Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated ([Formula: see text] ~ 0...
January 14, 2019: Nature Genetics
https://www.readbyqxmd.com/read/30643251/association-studies-of-up-to-1-2-million-individuals-yield-new-insights-into-the-genetic-etiology-of-tobacco-and-alcohol-use
#2
Mengzhen Liu, Yu Jiang, Robbee Wedow, Yue Li, David M Brazel, Fang Chen, Gargi Datta, Jose Davila-Velderrain, Daniel McGuire, Chao Tian, Xiaowei Zhan, Hélène Choquet, Anna R Docherty, Jessica D Faul, Johanna R Foerster, Lars G Fritsche, Maiken Elvestad Gabrielsen, Scott D Gordon, Jeffrey Haessler, Jouke-Jan Hottenga, Hongyan Huang, Seon-Kyeong Jang, Philip R Jansen, Yueh Ling, Reedik Mägi, Nana Matoba, George McMahon, Antonella Mulas, Valeria Orrù, Teemu Palviainen, Anita Pandit, Gunnar W Reginsson, Anne Heidi Skogholt, Jennifer A Smith, Amy E Taylor, Constance Turman, Gonneke Willemsen, Hannah Young, Kendra A Young, Gregory J M Zajac, Wei Zhao, Wei Zhou, Gyda Bjornsdottir, Jason D Boardman, Michael Boehnke, Dorret I Boomsma, Chu Chen, Francesco Cucca, Gareth E Davies, Charles B Eaton, Marissa A Ehringer, Tõnu Esko, Edoardo Fiorillo, Nathan A Gillespie, Daniel F Gudbjartsson, Toomas Haller, Kathleen Mullan Harris, Andrew C Heath, John K Hewitt, Ian B Hickie, John E Hokanson, Christian J Hopfer, David J Hunter, William G Iacono, Eric O Johnson, Yoichiro Kamatani, Sharon L R Kardia, Matthew C Keller, Manolis Kellis, Charles Kooperberg, Peter Kraft, Kenneth S Krauter, Markku Laakso, Penelope A Lind, Anu Loukola, Sharon M Lutz, Pamela A F Madden, Nicholas G Martin, Matt McGue, Matthew B McQueen, Sarah E Medland, Andres Metspalu, Karen L Mohlke, Jonas B Nielsen, Yukinori Okada, Ulrike Peters, Tinca J C Polderman, Danielle Posthuma, Alexander P Reiner, John P Rice, Eric Rimm, Richard J Rose, Valgerdur Runarsdottir, Michael C Stallings, Alena Stančáková, Hreinn Stefansson, Khanh K Thai, Hilary A Tindle, Thorarinn Tyrfingsson, Tamara L Wall, David R Weir, Constance Weisner, John B Whitfield, Bendik Slagsvold Winsvold, Jie Yin, Luisa Zuccolo, Laura J Bierut, Kristian Hveem, James J Lee, Marcus R Munafò, Nancy L Saccone, Cristen J Willer, Marilyn C Cornelis, Sean P David, David A Hinds, Eric Jorgenson, Jaakko Kaprio, Jerry A Stitzel, Kari Stefansson, Thorgeir E Thorgeirsson, Gonçalo Abecasis, Dajiang J Liu, Scott Vrieze
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1 . They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11 . In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk...
January 14, 2019: Nature Genetics
https://www.readbyqxmd.com/read/30639323/complex-compound-inheritance-of-lethal-lung-developmental-disorders-due-to-disruption-of-the-tbx-fgf-pathway
#3
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C Mefford, Jennifer N Dines, Katie Golden-Grant, Katrina Dipple, Amanda S Freed, Kathleen A Leppig, Megan Dishop, David Mowat, Bruce Bennetts, Andrew J Gifford, Martin A Weber, Anna F Lee, Cornelius F Boerkoel, Tina M Bartell, Catherine Ward-Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jelena Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaelle André, Eric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A Scott, Chester W Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K Grange, John A Phillips, Jean P Pfotenhauer, Shalini N Jhangiani, Claudia G Gonzaga-Jauregui, Wendy K Chung, Galen M Schauer, Mark H Lipson, Catherine L Mercer, Arie van Haeringen, Qian Liu, Edwina Popek, Zeynep H Coban Akdemir, James R Lupski, Przemyslaw Szafranski, Bertrand Isidor, Cedric Le Caignec, Paweł Stankiewicz
Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals...
January 2, 2019: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30635416/sequential-evolution-of-virulence-and-resistance-during-clonal-spread-of-community-acquired-methicillin-resistant-staphylococcus-aureus
#4
Richard Copin, William E Sause, Yi Fulmer, Divya Balasubramanian, Sophie Dyzenhaus, Jamil M Ahmed, Krishan Kumar, John Lees, Anna Stachel, Jason C Fisher, Karl Drlica, Michael Phillips, Jeffrey N Weiser, Paul J Planet, Anne-Catrin Uhlemann, Deena R Altman, Robert Sebra, Harm van Bakel, Jennifer Lighter, Victor J Torres, Bo Shopsin
The past two decades have witnessed an alarming expansion of staphylococcal disease caused by community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA). The factors underlying the epidemic expansion of CA-MRSA lineages such as USA300, the predominant CA-MRSA clone in the United States, are largely unknown. Previously described virulence and antimicrobial resistance genes that promote the dissemination of CA-MRSA are carried by mobile genetic elements, including phages and plasmids. Here, we used high-resolution genomics and experimental infections to characterize the evolution of a USA300 variant plaguing a patient population at increased risk of infection to understand the mechanisms underlying the emergence of genetic elements that facilitate clonal spread of the pathogen...
January 11, 2019: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30633339/peptoids-advance-multidisciplinary-research-and-undergraduate-education-in-parallel-sequence-effects-on-conformation-and-lipid-interactions
#5
Christian J Jimenez, Jiacheng Tan, Kalli M Dowell, Gillian E Gadbois, Cameron A Read, Nicole Burgess, Jesus E Cervantes, Shannon Chan, Anmol Jandaur, Tara Karanik, Jaenic J Lee, Mikaela C Ley, Molly McGeehan, Ann McMonigal, Kira L Palazzo, Samantha A Parker, Andre Payman, Maritza Soria, Lauren Verheyden, Vivian T Vo, Jennifer Yin, Anna L Calkins, Amelia A Fuller, Grace Y Stokes
Peptoids are versatile peptidomimetic molecules with wide-ranging applications from drug discovery to materials science. An understanding of peptoid sequence features that contribute to both their three-dimensional structures and their interactions with lipids will expand functions of peptoids in varied fields. Furthermore, these topics capture the enthusiasm of undergraduate students who prepare and study diverse peptoids in laboratory coursework and/or in faculty led research. Here, we present the synthesis and study of 21 peptoids with varied functionality, including 19 tripeptoids and 2 longer oligomers...
January 11, 2019: Biopolymers
https://www.readbyqxmd.com/read/30624691/knowledge-of-late-effects-risks-and-healthcare-responsibility-in-adolescents-and-young-adults-treated-for-childhood-cancer
#6
Jennifer L Lee, Ana Gutierrez-Colina, Rebecca Williamson Lewis, Karen Wasilewski-Masker, Lillian R Meacham, Ann C Mertens, Jordan Gilleland Marchak
Objective: This study aimed to examine the level and predictors of knowledge of late effects risks from childhood cancer treatment in adolescent and young adult (AYA) survivors. Methods: Seventy-three AYAs, aged 14-21, completed measures of knowledge of late effect risks, executive functioning, and responsibility for health self-management. Sixty-seven parents of these AYA survivors (91.7%) also participated. Results: Survivors demonstrated poor knowledge of their unique risks for treatment-related late effects, with a mean accurate knowledge score of 54...
January 8, 2019: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/30612739/recirculating-intestinal-iga-producing-cells-regulate-neuroinflammation-via-il-10
#7
Olga L Rojas, Anne-Katrin Pröbstel, Elisa A Porfilio, Angela A Wang, Marc Charabati, Tian Sun, Dennis S W Lee, Georgina Galicia, Valeria Ramaglia, Lesley A Ward, Leslie Y T Leung, Ghazal Najafi, Khashayar Khaleghi, Beatriz Garcillán, Angela Li, Rickvinder Besla, Ikbel Naouar, Eric Y Cao, Pailin Chiaranunt, Kyle Burrows, Hannah G Robinson, Jessica R Allanach, Jennifer Yam, Helen Luck, Daniel J Campbell, David Allman, David G Brooks, Michio Tomura, Ryan Baumann, Scott S Zamvil, Amit Bar-Or, Marc S Horwitz, Daniel A Winer, Arthur Mortha, Fabienne Mackay, Alexandre Prat, Lisa C Osborne, Clinton Robbins, Sergio E Baranzini, Jennifer L Gommerman
Plasma cells (PC) are found in the CNS of multiple sclerosis (MS) patients, yet their source and role in MS remains unclear. We find that some PC in the CNS of mice with experimental autoimmune encephalomyelitis (EAE) originate in the gut and produce immunoglobulin A (IgA). Moreover, we show that IgA+ PC are dramatically reduced in the gut during EAE, and likewise, a reduction in IgA-bound fecal bacteria is seen in MS patients during disease relapse. Removal of plasmablast (PB) plus PC resulted in exacerbated EAE that was normalized by the introduction of gut-derived IgA+ PC...
December 21, 2018: Cell
https://www.readbyqxmd.com/read/30606716/circulating-high-sensitivity-c-reactive-protein-concentrations-and-risk-of-lung-cancer-nested-case-control-study-within-lung-cancer-cohort-consortium
#8
David C Muller, Tricia L Larose, Allison Hodge, Florence Guida, Arnulf Langhammer, Kjell Grankvist, Klaus Meyer, Qiuyin Cai, Alan A Arslan, Anne Zeleniuch-Jacquotte, Demetrius Albanes, Graham G Giles, Howard D Sesso, I-Min Lee, J Michael Gaziano, Jian-Min Yuan, Judith Hoffman Bolton, Julie E Buring, Kala Visvanathan, Loic Le Marchand, Mark P Purdue, Neil E Caporaso, Øivind Midttun, Per M Ueland, Ross L Prentice, Stephanie J Weinstein, Victoria L Stevens, Wei Zheng, William J Blot, Xiao-Ou Shu, Xuehong Zhang, Yong-Bing Xiang, Woon-Puay Koh, Kristian Hveem, Cynthia A Thomson, Mary Pettinger, Gunnar Engström, Hans Brunnström, Roger L Milne, Meir J Stampfer, Jiali Han, Mikael Johansson, Paul Brennan, Gianluca Severi, Mattias Johansson
OBJECTIVES: To conduct a comprehensive analysis of prospectively measured circulating high sensitivity C reactive protein (hsCRP) concentration and risk of lung cancer overall, by smoking status (never, former, and current smokers), and histological sub-type. DESIGN: Nested case-control study. SETTING: 20 population based cohort studies in Asia, Europe, Australia, and the United States. PARTICIPANTS: 5299 patients with incident lung cancer, with individually incidence density matched controls...
January 3, 2019: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/30605544/proceedings-of-the-american-college-of-rheumatology-association-of-physicians-of-great-britain-and-ireland-connective-tissue-disease-associated-interstitial-lung-disease-summit-a-multidisciplinary-approach-to-address-challenges-and-opportunities
#9
Aryeh Fischer, Mary E Strek, Vincent Cottin, Paul F Dellaripa, Elana J Bernstein, Kevin K Brown, Sonye K Danoff, Oliver Distler, Nik Hirani, Kirk D Jones, Dinesh Khanna, Joyce S Lee, David A Lynch, Toby M Maher, Ann B Millar, Ganesh Raghu, Richard M Silver, Virginia D Steen, Elizabeth R Volkmann, Ronan H Mullan, David N O'Dwyer, Seamas C Donnelly
No abstract text is available yet for this article.
January 3, 2019: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/30605491/the-influence-of-obesity-related-factors-in-the-etiology-of-renal-cell-carcinoma-a-mendelian-randomization-study
#10
Mattias Johansson, Robert Carreras-Torres, Ghislaine Scelo, Mark P Purdue, Daniela Mariosa, David C Muller, Nicolas J Timpson, Philip C Haycock, Kevin M Brown, Zhaoming Wang, Yuanqing Ye, Jonathan N Hofmann, Matthieu Foll, Valerie Gaborieau, Mitchell J Machiela, Leandro M Colli, Peng Li, Jean-Guillaume Garnier, Helene Blanche, Anne Boland, Laurie Burdette, Egor Prokhortchouk, Konstantin G Skryabin, Meredith Yeager, Sanja Radojevic-Skodric, Simona Ognjanovic, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, Cezary Cybulski, Eleonora Fabianova, Viorel Jinga, Jolanta Lissowska, Jan Lubinski, Marie Navratilova, Peter Rudnai, Simone Benhamou, Geraldine Cancel-Tassin, Olivier Cussenot, Elisabete Weiderpass, Börje Ljungberg, Raviprakash Tumkur Sitaram, Christel Häggström, Fiona Bruinsma, Susan J Jordan, Gianluca Severi, Ingrid Winship, Kristian Hveem, Lars J Vatten, Tony Fletcher, Susanna C Larsson, Alicja Wolk, Rosamonde E Banks, Peter J Selby, Douglas F Easton, Gabriella Andreotti, Laura E Beane Freeman, Stella Koutros, Satu Männistö, Stephanie Weinstein, Peter E Clark, Todd L Edwards, Loren Lipworth, Susan M Gapstur, Victoria L Stevens, Hallie Carol, Matthew L Freedman, Mark M Pomerantz, Eunyoung Cho, Kathryn M Wilson, J Michael Gaziano, Howard D Sesso, Neal D Freedman, Alexander S Parker, Jeanette E Eckel-Passow, Wen-Yi Huang, Richard J Kahnoski, Brian R Lane, Sabrina L Noyes, David Petillo, Bin Tean Teh, Ulrike Peters, Emily White, Garnet L Anderson, Lisa Johnson, Juhua Luo, Julie Buring, I-Min Lee, Wong-Ho Chow, Lee E Moore, Timothy Eisen, Marc Henrion, James Larkin, Poulami Barman, Bradley C Leibovich, Toni K Choueiri, G Mark Lathrop, Jean-Francois Deleuze, Marc Gunter, James D McKay, Xifeng Wu, Richard S Houlston, Stephen J Chanock, Caroline Relton, J Brent Richards, Richard M Martin, George Davey Smith, Paul Brennan
BACKGROUND: Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as proxies for putative risk factors and evaluated their relation to RCC risk in a mendelian randomization (MR) framework. This methodology limits bias due to confounding and is not affected by reverse causation. METHODS AND FINDINGS: Genetic markers associated with obesity measures, blood pressure, lipids, type 2 diabetes, insulin, and glucose were initially identified as instrumental variables, and their association with RCC risk was subsequently evaluated in a genome-wide association study (GWAS) of 10,784 RCC patients and 20,406 control participants in a 2-sample MR framework...
January 2019: PLoS Medicine
https://www.readbyqxmd.com/read/30604506/proceedings-of-the-american-college-of-rheumatology-association-of-physicians-of-great-britain-and-ireland-connective-tissue-disease-associated-interstitial-lung-disease-summit-a-multidisciplinary-approach-to-address-challenges-and-opportunities
#11
Aryeh Fischer, Mary E Strek, Vincent Cottin, Paul F Dellaripa, Elana J Bernstein, Kevin K Brown, Sonye K Danoff, Oliver Distler, Nik Hirani, Kirk D Jones, Dinesh Khanna, Joyce S Lee, David A Lynch, Toby M Maher, Ann B Millar, Ganesh Raghu, Richard M Silver, Virginia D Steen, Elizabeth R Volkmann, Ronan H Mullan, David N O'Dwyer, Seamas C Donnelly
No abstract text is available yet for this article.
January 3, 2019: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/30601983/variation-in-care-in-the-management-of-children-with-crohn-s-disease-data-from-a-multicenter-inception-cohort-study
#12
Chenthan Krishnakumar, Cortney R Ballengee, Chunyan Liu, Mi-Ok Kim, Susan S Baker, Robert N Baldassano, Stanley A Cohen, Wallace V Crandall, Lee A Denson, Marla C Dubinsky, Jonathan Evans, Ranjana Gokhale, Anne Griffiths, Stephen L Guthery, Maria Oliva-Hemker, Melvin B Heyman, David Keljo, Richard Kellermayer, Neal S Leleiko, David R Mack, James F Markowitz, Dedrick E Moulton, Joshua D Noe, Anthony R Otley, Ashish S Patel, Marian Pfefferkorn, Shervin Rabizadeh, Joel R Rosh, Scott Snapper, Thomas D Walters, David Ziring, Kajari Mondal, Michael D Kappelman, Jeffrey S Hyams, Subra Kugathasan
Background: Variation in care is common in medical practice. Reducing variation in care is shown to improve quality and increase favorable outcomes in chronic diseases. We sought to identify factors associated with variation in care in children with newly diagnosed Crohn's disease (CD). Methods: Prospectively collected data from a 28-site multicenter inception CD cohort were analyzed for variations in diagnostic modalities, treatment, and follow-up monitoring practices, along with complicated disease outcomes over 3 years in 1046 children...
January 2, 2019: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/30601841/genetic-variants-in-genes-related-to-inflammation-apoptosis-and-autophagy-in-breast-cancer-risk
#13
Johanna M Schuetz, Anne Grundy, Derrick G Lee, Agnes S Lai, Lindsay C Kobayashi, Harriet Richardson, Jirong Long, Wei Zheng, Kristan J Aronson, John J Spinelli, Angela R Brooks-Wilson
BACKGROUND: Inflammation contributes to breast cancer development through its effects on cell damage. This damage is usually dealt with by key genes involved in apoptosis and autophagy pathways. METHODS: We tested 206 single nucleotide polymorphisms (SNPs) in 54 genes related to inflammation, apoptosis and autophagy in a population-based breast cancer study of women of European (658 cases and 795 controls) and East Asian (262 cases and 127 controls) descent. Logistic regression was used to estimate odds ratios for breast cancer risk, and case-only analysis to compare breast cancer subtypes (defined by ER/PR/HER2 status), with adjustment for confounders...
2019: PloS One
https://www.readbyqxmd.com/read/30600189/factors-associated-with-boarding-and-length-of-stay-for-pediatric-mental-health-emergency-visits
#14
Jennifer A Hoffmann, Anne M Stack, Michael C Monuteaux, Romy Levin, Lois K Lee
OBJECTIVE: To determine demographic and clinical risk factors associated with boarding (length of stay ≥24 h) for pediatric mental health emergency department (ED) visits. METHODS: This is a retrospective cross-sectional analysis of mental health visits identified by diagnosis codes for children 5-18 years old presenting to a tertiary pediatric ED in 2016. We performed multivariate logistic regression to identify demographic and clinical factors associated with boarding...
December 23, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/30598549/an-atlas-of-genetic-influences-on-osteoporosis-in-humans-and-mice
#15
John A Morris, John P Kemp, Scott E Youlten, Laetitia Laurent, John G Logan, Ryan C Chai, Nicholas A Vulpescu, Vincenzo Forgetta, Aaron Kleinman, Sindhu T Mohanty, C Marcelo Sergio, Julian Quinn, Loan Nguyen-Yamamoto, Aimee-Lee Luco, Jinchu Vijay, Marie-Michelle Simon, Albena Pramatarova, Carolina Medina-Gomez, Katerina Trajanoska, Elena J Ghirardello, Natalie C Butterfield, Katharine F Curry, Victoria D Leitch, Penny C Sparkes, Anne-Tounsia Adoum, Naila S Mannan, Davide S K Komla-Ebri, Andrea S Pollard, Hannah F Dewhurst, Thomas A D Hassall, Michael-John G Beltejar, Douglas J Adams, Suzanne M Vaillancourt, Stephen Kaptoge, Paul Baldock, Cyrus Cooper, Jonathan Reeve, Evangelia E Ntzani, Evangelos Evangelou, Claes Ohlsson, David Karasik, Fernando Rivadeneira, Douglas P Kiel, Jonathan H Tobias, Celia L Gregson, Nicholas C Harvey, Elin Grundberg, David Goltzman, David J Adams, Christopher J Lelliott, David A Hinds, Cheryl L Ackert-Bicknell, Yi-Hsiang Hsu, Matthew T Maurano, Peter I Croucher, Graham R Williams, J H Duncan Bassett, David M Evans, J Brent Richards
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with estimated BMD (eBMD), in ~1.2 million individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds ratio (OR) = 58, P = 1 × 10-75 ) from cell-specific features, including chromatin conformation and accessible chromatin sites...
December 31, 2018: Nature Genetics
https://www.readbyqxmd.com/read/30595373/associations-of-mitochondrial-and-nuclear-mitochondrial-variants-and-genes-with-seven-metabolic-traits
#16
Aldi T Kraja, Chunyu Liu, Jessica L Fetterman, Mariaelisa Graff, Christian Theil Have, Charles Gu, Lisa R Yanek, Mary F Feitosa, Dan E Arking, Daniel I Chasman, Kristin Young, Symen Ligthart, W David Hill, Stefan Weiss, Jian'an Luan, Franco Giulianini, Ruifang Li-Gao, Fernando P Hartwig, Shiow J Lin, Lihua Wang, Tom G Richardson, Jie Yao, Eliana P Fernandez, Mohsen Ghanbari, Mary K Wojczynski, Wen-Jane Lee, Maria Argos, Sebastian M Armasu, Ruteja A Barve, Kathleen A Ryan, Ping An, Thomas J Baranski, Suzette J Bielinski, Donald W Bowden, Ulrich Broeckel, Kaare Christensen, Audrey Y Chu, Janie Corley, Simon R Cox, Andre G Uitterlinden, Fernando Rivadeneira, Cheryl D Cropp, E Warwick Daw, Diana van Heemst, Lisa de Las Fuentes, He Gao, Ioanna Tzoulaki, Tarunveer S Ahluwalia, Renée de Mutsert, Leslie S Emery, A Mesut Erzurumluoglu, James A Perry, Mao Fu, Nita G Forouhi, Zhenglong Gu, Yang Hai, Sarah E Harris, Gibran Hemani, Steven C Hunt, Marguerite R Irvin, Anna E Jonsson, Anne E Justice, Nicola D Kerrison, Nicholas B Larson, Keng-Hung Lin, Latisha D Love-Gregory, Rasika A Mathias, Joseph H Lee, Matthias Nauck, Raymond Noordam, Ken K Ong, James Pankow, Amit Patki, Alison Pattie, Astrid Petersmann, Qibin Qi, Rasmus Ribel-Madsen, Rebecca Rohde, Kevin Sandow, Theresia M Schnurr, Tamar Sofer, John M Starr, Adele M Taylor, Alexander Teumer, Nicholas J Timpson, Hugoline G de Haan, Yujie Wang, Peter E Weeke, Christine Williams, Hongsheng Wu, Wei Yang, Donglin Zeng, Daniel R Witte, Bruce S Weir, Nicholas J Wareham, Henrik Vestergaard, Stephen T Turner, Christian Torp-Pedersen, Evie Stergiakouli, Wayne Huey-Herng Sheu, Frits R Rosendaal, M Arfan Ikram, Oscar H Franco, Paul M Ridker, Thomas T Perls, Oluf Pedersen, Ellen A Nohr, Anne B Newman, Allan Linneberg, Claudia Langenberg, Tuomas O Kilpeläinen, Sharon L R Kardia, Marit E Jørgensen, Torben Jørgensen, Thorkild I A Sørensen, Georg Homuth, Torben Hansen, Mark O Goodarzi, Ian J Deary, Cramer Christensen, Yii-Der Ida Chen, Aravinda Chakravarti, Ivan Brandslund, Klaus Bonnelykke, Kent D Taylor, James G Wilson, Santiago Rodriguez, Gail Davies, Bernardo L Horta, Bharat Thyagarajan, D C Rao, Niels Grarup, Victor G Davila-Roman, Gavin Hudson, Xiuqing Guo, Donna K Arnett, Caroline Hayward, Dhananjay Vaidya, Dennis O Mook-Kanamori, Hemant K Tiwari, Daniel Levy, Ruth J F Loos, Abbas Dehghan, Paul Elliott, Afshan N Malik, Robert A Scott, Diane M Becker, Mariza de Andrade, Michael A Province, James B Meigs, Jerome I Rotter, Kari E North
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear genes (MT-nDNA). In the CHARGEmtDNA+ Consortium, we studied genetic associations of mtDNA and MT-nDNA associations with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, and HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation and imputation of mtDNA variants was followed by single-variant and gene-based association testing...
December 21, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30588148/evaluating-the-impact-of-national-education-in-pediatric-palliative-care-the-quality-of-care-collaborative-australia
#17
Penelope J Slater, Anthony R Herbert, Sarah J Baggio, Leigh A Donovan, Alison M McLarty, Julie A Duffield, Lee-Anne C Pedersen, Jacqueline K Duc, Angela M Delaney, Susan A Johnson, Melissa G Heywood, Charlotte A Burr
Purpose: The Quality of Care Collaborative Australia (QuoCCA) provided pediatric palliative care education across Australia with the aim of improving the quality of services. The education was delivered through a collaboration of six tertiary pediatric palliative care services, through funding for Nurse Educators, Medical Fellows, a National Allied Health Educator, and national project staff. Methods: Pre- and post-education surveys were completed by participants immediately following the education, and confidence and knowledge were measured along nine domains related to the care of the child and family, including managing a new referral, symptom management, medications, preparing the family, and using local agencies...
2018: Advances in Medical Education and Practice
https://www.readbyqxmd.com/read/30584639/dissemination-of-a-novel-framework-to-improve-blood-culture-use-in-pediatric-critical-care
#18
Charlotte Z Woods-Hill, Laura Lee, Anping Xie, Anne F King, Annie Voskertchian, Sybil A Klaus, Michelle M Smith, Marlene R Miller, Elizabeth A Colantuoni, James C Fackler, Aaron M Milstone
Introduction: Single center work demonstrated a safe reduction in unnecessary blood culture use in critically ill children. Our objective was to develop and implement a customizable quality improvement framework to reduce unnecessary blood culture testing in critically ill children across diverse clinical settings and various institutions. Methods: Three pediatric intensive care units (14 bed medical/cardiac; 28 bed medical; 22 bed cardiac) in 2 institutions adapted and implemented a 5-part Blood Culture Improvement Framework, supported by a coordinating multidisciplinary team...
September 2018: Pediatric Quality & Safety
https://www.readbyqxmd.com/read/30580808/expanding-the-spectrum-of-baf-related-disorders-de-novo-variants-in-smarcc2-cause-a-syndrome-with-intellectual-disability-and-developmental-delay
#19
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C Spillmann, Jennifer A Sullivan, Vandana Shashi, Yong-Hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F Buckley, Anne Turner, Wendy D Jones, Peter M van Hasselt, Floris C Hofstede, Koen L I van Gassen, Alice S Brooks, Marjon A van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D Krantz, Jennifer M Tarpinian, Jill A Rosenfeld, Brendan H Lee, Philippe M Campeau
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo...
January 3, 2019: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30579849/epigenome-wide-meta-analysis-of-dna-methylation-and-childhood-asthma
#20
Sarah E Reese, Cheng-Jian Xu, Herman T den Dekker, Mi Kyeong Lee, Sinjini Sikdar, Carlos Ruiz-Arenas, Simon K Merid, Faisal I Rezwan, Christian M Page, Vilhelmina Ullemar, Phillip E Melton, Sam S Oh, Ivana V Yang, Kimberley Burrows, Cilla Söderhäll, Dereje D Jima, Lu Gao, Ryan Arathimos, Leanne K Küpers, Matthias Wielscher, Peter Rzehak, Jari Lahti, Catherine Laprise, Anne-Marie Madore, James Ward, Brian D Bennett, Tianyuan Wang, Douglas A Bell, Judith M Vonk, Siri E Håberg, Shanshan Zhao, Robert Karlsson, Elysia Hollams, Donglei Hu, Adam J Richards, Anna Bergström, Gemma C Sharp, Janine F Felix, Mariona Bustamante, Olena Gruzieva, Rachel L Maguire, Frank Gilliland, Nour Baïz, Ellen A Nohr, Eva Corpeleijn, Sylvain Sebert, Wilfried Karmaus, Veit Grote, Eero Kajantie, Maria C Magnus, Anne K Örtqvist, Celeste Eng, Andrew H Liu, Inger Kull, Vincent W V Jaddoe, Jordi Sunyer, Juha Kere, Cathrine Hoyo, Isabella Annesi-Maesano, Syed Hasan Arshad, Berthold Koletzko, Bert Brunekreef, Elisabeth B Binder, Katri Räikkönen, Eva Reischl, John W Holloway, Marjo-Riitta Jarvelin, Harold Snieder, Nabila Kazmi, Carrie V Breton, Susan K Murphy, Göran Pershagen, Josep Maria Anto, Caroline L Relton, David A Schwartz, Esteban G Burchard, Rae-Chi Huang, Wenche Nystad, Catarina Almqvist, A John Henderson, Erik Melén, Liesbeth Duijts, Gerard H Koppelman, Stephanie J London
BACKGROUND: Epigenetic mechanisms, including methylation, may contribute to childhood asthma. Identifying DNA methylation profiles in asthma may inform disease pathogenesis. OBJECTIVE: To identify differential DNA methylation in newborns and children related to childhood asthma. METHODS: Within the Pregnancy And Childhood Epigenetics (PACE) consortium, we performed epigenome-wide meta-analyses of school-age asthma in relation to CpG methylation (Illumina450K) in blood measured either in newborns, in prospective analyses, or cross-sectionally, in school-age children...
December 20, 2018: Journal of Allergy and Clinical Immunology
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