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Margaret D. Allen

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https://www.readbyqxmd.com/read/29109393/scalable-whole-exome-sequencing-of-cell-free-dna-reveals-high-concordance-with-metastatic-tumors
#1
Viktor A Adalsteinsson, Gavin Ha, Samuel S Freeman, Atish D Choudhury, Daniel G Stover, Heather A Parsons, Gregory Gydush, Sarah C Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S Merrill, Rebecca A Santiago, Edward P O'Connor, Seong H Jeong, Rachel Leeson, Rachel M Barry, Joseph F Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M Oliver, Lori Marini, Adrienne G Waks, Lauren C Harshman, Sara M Tolaney, Eliezer M Van Allen, Eric P Winer, Nancy U Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M Johannessen, Levi A Garraway, Todd R Golub, Jesse S Boehm, Nikhil Wagle, Gad Getz, J Christopher Love, Matthew Meyerson
Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing...
November 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#2
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29025028/cohort-profile-pregnancy-and-childhood-epigenetics-pace-consortium
#3
Janine F Felix, Bonnie R Joubert, Andrea A Baccarelli, Gemma C Sharp, Catarina Almqvist, Isabella Annesi-Maesano, Hasan Arshad, Nour Baïz, Marian J Bakermans-Kranenburg, Kelly M Bakulski, Elisabeth B Binder, Luigi Bouchard, Carrie V Breton, Bert Brunekreef, Kelly J Brunst, Esteban G Burchard, Mariona Bustamante, Leda Chatzi, Monica Cheng Munthe-Kaas, Eva Corpeleijn, Darina Czamara, Dana Dabelea, George Davey Smith, Patrick De Boever, Liesbeth Duijts, Terence Dwyer, Celeste Eng, Brenda Eskenazi, Todd M Everson, Fahimeh Falahi, M Daniele Fallin, Sara Farchi, Mariana F Fernandez, Lu Gao, Tom R Gaunt, Akram Ghantous, Matthew W Gillman, Semira Gonseth, Veit Grote, Olena Gruzieva, Siri E Håberg, Zdenko Herceg, Marie-France Hivert, Nina Holland, John W Holloway, Cathrine Hoyo, Donglei Hu, Rae-Chi Huang, Karen Huen, Marjo-Riitta Järvelin, Dereje D Jima, Allan C Just, Margaret R Karagas, Robert Karlsson, Wilfried Karmaus, Katerina J Kechris, Juha Kere, Manolis Kogevinas, Berthold Koletzko, Gerard H Koppelman, Leanne K Küpers, Christine Ladd-Acosta, Jari Lahti, Nathalie Lambrechts, Sabine A S Langie, Rolv T Lie, Andrew H Liu, Maria C Magnus, Per Magnus, Rachel L Maguire, Carmen J Marsit, Wendy McArdle, Erik Melén, Phillip Melton, Susan K Murphy, Tim S Nawrot, Lorenza Nisticò, Ellen A Nohr, Björn Nordlund, Wenche Nystad, Sam S Oh, Emily Oken, Christian M Page, Patrice Perron, Göran Pershagen, Costanza Pizzi, Michelle Plusquin, Katri Raikkonen, Sarah E Reese, Eva Reischl, Lorenzo Richiardi, Susan Ring, Ritu P Roy, Peter Rzehak, Greet Schoeters, David A Schwartz, Sylvain Sebert, Harold Snieder, Thorkild I A Sørensen, Anne P Starling, Jordi Sunyer, Jack A Taylor, Henning Tiemeier, Vilhelmina Ullemar, Marina Vafeiadi, Marinus H Van Ijzendoorn, Judith M Vonk, Annette Vriens, Martine Vrijheid, Pei Wang, Joseph L Wiemels, Allen J Wilcox, Rosalind J Wright, Cheng-Jian Xu, Zongli Xu, Ivana V Yang, Paul Yousefi, Hongmei Zhang, Weiming Zhang, Shanshan Zhao, Golareh Agha, Caroline L Relton, Vincent W V Jaddoe, Stephanie J London
No abstract text is available yet for this article.
September 13, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28723893/in-vivo-crispr-screening-identifies-ptpn2-as-a-cancer-immunotherapy-target
#4
Robert T Manguso, Hans W Pope, Margaret D Zimmer, Flavian D Brown, Kathleen B Yates, Brian C Miller, Natalie B Collins, Kevin Bi, Martin W LaFleur, Vikram R Juneja, Sarah A Weiss, Jennifer Lo, David E Fisher, Diana Miao, Eliezer Van Allen, David E Root, Arlene H Sharpe, John G Doench, W Nicholas Haining
Immunotherapy with PD-1 checkpoint blockade is effective in only a minority of patients with cancer, suggesting that additional treatment strategies are needed. Here we use a pooled in vivo genetic screening approach using CRISPR-Cas9 genome editing in transplantable tumours in mice treated with immunotherapy to discover previously undescribed immunotherapy targets. We tested 2,368 genes expressed by melanoma cells to identify those that synergize with or cause resistance to checkpoint blockade. We recovered the known immune evasion molecules PD-L1 and CD47, and confirmed that defects in interferon-γ signalling caused resistance to immunotherapy...
July 27, 2017: Nature
https://www.readbyqxmd.com/read/28715480/tales-of-diversity-genomic-and-morphological-characteristics-of-forty-six-arthrobacter-phages
#5
Karen K Klyczek, J Alfred Bonilla, Deborah Jacobs-Sera, Tamarah L Adair, Patricia Afram, Katherine G Allen, Megan L Archambault, Rahat M Aziz, Filippa G Bagnasco, Sarah L Ball, Natalie A Barrett, Robert C Benjamin, Christopher J Blasi, Katherine Borst, Mary A Braun, Haley Broomell, Conner B Brown, Zachary S Brynell, Ashley B Bue, Sydney O Burke, William Casazza, Julia A Cautela, Kevin Chen, Nitish S Chimalakonda, Dylan Chudoff, Jade A Connor, Trevor S Cross, Kyra N Curtis, Jessica A Dahlke, Bethany M Deaton, Sarah J Degroote, Danielle M DeNigris, Katherine C DeRuff, Milan Dolan, David Dunbar, Marisa S Egan, Daniel R Evans, Abby K Fahnestock, Amal Farooq, Garrett Finn, Christopher R Fratus, Bobby L Gaffney, Rebecca A Garlena, Kelly E Garrigan, Bryan C Gibbon, Michael A Goedde, Carlos A Guerrero Bustamante, Melinda Harrison, Megan C Hartwell, Emily L Heckman, Jennifer Huang, Lee E Hughes, Kathryn M Hyduchak, Aswathi E Jacob, Machika Kaku, Allen W Karstens, Margaret A Kenna, Susheel Khetarpal, Rodney A King, Amanda L Kobokovich, Hannah Kolev, Sai A Konde, Elizabeth Kriese, Morgan E Lamey, Carter N Lantz, Jonathan S Lapin, Temiloluwa O Lawson, In Young Lee, Scott M Lee, Julia Y Lee-Soety, Emily M Lehmann, Shawn C London, A Javier Lopez, Kelly C Lynch, Catherine M Mageeney, Tetyana Martynyuk, Kevin J Mathew, Travis N Mavrich, Christopher M McDaniel, Hannah McDonald, C Joel McManus, Jessica E Medrano, Francis E Mele, Jennifer E Menninger, Sierra N Miller, Josephine E Minick, Courtney T Nabua, Caroline K Napoli, Martha Nkangabwa, Elizabeth A Oates, Cassandra T Ott, Sarah K Pellerino, William J Pinamont, Ross T Pirnie, Marie C Pizzorno, Emilee J Plautz, Welkin H Pope, Katelyn M Pruett, Gabbi Rickstrew, Patrick A Rimple, Claire A Rinehart, Kayla M Robinson, Victoria A Rose, Daniel A Russell, Amelia M Schick, Julia Schlossman, Victoria M Schneider, Chloe A Sells, Jeremy W Sieker, Morgan P Silva, Marissa M Silvi, Stephanie E Simon, Amanda K Staples, Isabelle L Steed, Emily L Stowe, Noah A Stueven, Porter T Swartz, Emma A Sweet, Abigail T Sweetman, Corrina Tender, Katrina Terry, Chrystal Thomas, Daniel S Thomas, Allison R Thompson, Lorianna Vanderveen, Rohan Varma, Hannah L Vaught, Quynh D Vo, Zachary T Vonberg, Vassie C Ware, Yasmene M Warrad, Kaitlyn E Wathen, Jonathan L Weinstein, Jacqueline F Wyper, Jakob R Yankauskas, Christine Zhang, Graham F Hatfull
The vast bacteriophage population harbors an immense reservoir of genetic information. Almost 2000 phage genomes have been sequenced from phages infecting hosts in the phylum Actinobacteria, and analysis of these genomes reveals substantial diversity, pervasive mosaicism, and novel mechanisms for phage replication and lysogeny. Here, we describe the isolation and genomic characterization of 46 phages from environmental samples at various geographic locations in the U.S. infecting a single Arthrobacter sp. strain...
2017: PloS One
https://www.readbyqxmd.com/read/28714976/rare-coding-variants-in-plcg2-abi3-and-trem2-implicate-microglial-mediated-innate-immunity-in-alzheimer-s-disease
#6
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, W T Longstreth Jr, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28539196/effects-of-the-informed-health-choices-podcast-on-the-ability-of-parents-of-primary-school-children-in-uganda-to-assess-claims-about-treatment-effects-a-randomised-controlled-trial
#7
Daniel Semakula, Allen Nsangi, Andrew D Oxman, Matt Oxman, Astrid Austvoll-Dahlgren, Sarah Rosenbaum, Angela Morelli, Claire Glenton, Simon Lewin, Margaret Kaseje, Iain Chalmers, Atle Fretheim, Doris Tove Kristoffersen, Nelson K Sewankambo
BACKGROUND: As part of the Informed Health Choices project, we developed a podcast called The Health Choices Programme to help improve the ability of people to assess claims about the benefits and harms of treatments. We aimed to evaluate the effects of the podcast on the ability of parents of primary school children in Uganda to assess claims about the effects of treatments. METHODS: We did this randomised controlled trial in central Uganda. We recruited parents of children aged 10-12 years who were in their fifth year of school at 35 schools that were participating in a linked trial of the Informed Health Choices primary school resources...
July 22, 2017: Lancet
https://www.readbyqxmd.com/read/28539194/effects-of-the-informed-health-choices-primary-school-intervention-on-the-ability-of-children-in-uganda-to-assess-the-reliability-of-claims-about-treatment-effects-a-cluster-randomised-controlled-trial
#8
Allen Nsangi, Daniel Semakula, Andrew D Oxman, Astrid Austvoll-Dahlgren, Matt Oxman, Sarah Rosenbaum, Angela Morelli, Claire Glenton, Simon Lewin, Margaret Kaseje, Iain Chalmers, Atle Fretheim, Yunpeng Ding, Nelson K Sewankambo
BACKGROUND: Claims about what improves or harms our health are ubiquitous. People need to be able to assess the reliability of these claims. We aimed to evaluate an intervention designed to teach primary school children to assess claims about the effects of treatments (ie, any action intended to maintain or improve health). METHODS: In this cluster-randomised controlled trial, we included primary schools in the central region of Uganda that taught year-5 children (aged 10-12 years)...
July 22, 2017: Lancet
https://www.readbyqxmd.com/read/28521838/does-the-use-of-the-informed-healthcare-choices-ihc-primary-school-resources-improve-the-ability-of-grade-5-children-in-uganda-to-assess-the-trustworthiness-of-claims-about-the-effects-of-treatments-protocol-for-a-cluster-randomised-trial
#9
Allen Nsangi, Daniel Semakula, Andrew D Oxman, Matthew Oxman, Sarah Rosenbaum, Astrid Austvoll-Dahlgren, Laetitia Nyirazinyoye, Margaret Kaseje, Iain Chalmers, Atle Fretheim, Nelson K Sewankambo
BACKGROUND: The ability to appraise claims about the benefits and harms of treatments is crucial for informed health care decision-making. This research aims to enable children in East African primary schools (the clusters) to acquire and retain skills that can help them make informed health care choices by improving their ability to obtain, process and understand health information. The trial will evaluate (at the individual participant level) whether specially designed learning resources can teach children some of the key concepts relevant to appraising claims about the benefits and harms of health care interventions (treatments)...
May 18, 2017: Trials
https://www.readbyqxmd.com/read/28419856/adenoma-prevalence-in-blacks-and-whites-having-equal-adherence-to-screening-colonoscopy-the-national-colonoscopy-study
#10
Robin B Mendelsohn, Sidney J Winawer, Anjani Jammula, Glenn Mills, Paul Jordan, Michael J O'Brien, Georgia M Close, Michael Dorfman, Timothy R Church, Margaret T Mandelson, John Allen, Andrew Feld, Noah D Kauff, Georgia A Morgan, Julie M R Kumar, Victoria Serrano, Sharon Bayuga-Miller, Sara E Fischer, Deborah Kuk, Ann G Zauber
No abstract text is available yet for this article.
September 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28404607/interpreting-incidentally-identified-variants-in-genes-associated-with-catecholaminergic-polymorphic-ventricular-tachycardia-in-a-large-cohort-of-clinical-whole-exome-genetic-test-referrals
#11
Andrew P Landstrom, Andrew L Dailey-Schwartz, Jill A Rosenfeld, Yaping Yang, Margaret J McLean, Christina Y Miyake, Santiago O Valdes, Yuxin Fan, Hugh D Allen, Daniel J Penny, Jeffrey J Kim
BACKGROUND: The rapid expansion of genetic testing has led to increased utilization of clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being faced with assessing risk of disease vulnerability from incidentally identified genetic variants which is typified by variants found in genes associated with sudden death-predisposing catecholaminergic polymorphic ventricular tachycardia (CPVT). We sought to determine whether incidentally identified variants in genes associated with CPVT from WES clinical testing represent disease-associated biomarkers...
April 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28109313/can-an-educational-podcast-improve-the-ability-of-parents-of-primary-school-children-to-assess-the-reliability-of-claims-made-about-the-benefits-and-harms-of-treatments-study-protocol-for-a-randomised-controlled-trial
#12
Daniel Semakula, Allen Nsangi, Matt Oxman, Astrid Austvoll-Dahlgren, Sarah Rosenbaum, Margaret Kaseje, Laetitia Nyirazinyoye, Atle Fretheim, Iain Chalmers, Andrew D Oxman, Nelson K Sewankambo
BACKGROUND: Claims made about the effects of treatments are very common in the media and in the population more generally. The ability of individuals to understand and assess such claims can affect their decisions and health outcomes. Many people in both low- and high-income countries have inadequate aptitude to assess information about the effects of treatments. As part of the Informed Healthcare Choices project, we have prepared a series of podcast episodes to help improve people's ability to assess claims made about treatment effects...
January 21, 2017: Trials
https://www.readbyqxmd.com/read/28097368/incidence-of-and-risk-factors-for-skin-cancer-in-organ-transplant-recipients-in-the-united-states
#13
MULTICENTER STUDY
Giorgia L Garrett, Paul D Blanc, John Boscardin, Amanda Abramson Lloyd, Rehana L Ahmed, Tiffany Anthony, Kristin Bibee, Andrew Breithaupt, Jennifer Cannon, Amy Chen, Joyce Y Cheng, Zelma Chiesa-Fuxench, Oscar R Colegio, Clara Curiel-Lewandrowski, Christina A Del Guzzo, Max Disse, Margaret Dowd, Robert Eilers, Arisa Elena Ortiz, Caroline Morris, Spring K Golden, Michael S Graves, John R Griffin, R Samuel Hopkins, Conway C Huang, Gordon Hyeonjin Bae, Anokhi Jambusaria, Thomas A Jennings, Shang I Brian Jiang, Pritesh S Karia, Shilpi Khetarpal, Changhyun Kim, Goran Klintmalm, Kathryn Konicke, Shlomo A Koyfman, Charlene Lam, Peter Lee, Justin J Leitenberger, Tiffany Loh, Stefan Lowenstein, Reshmi Madankumar, Jacqueline F Moreau, Rajiv I Nijhawan, Shari Ochoa, Edit B Olasz, Elaine Otchere, Clark Otley, Jeremy Oulton, Parth H Patel, Vishal Anil Patel, Arpan V Prabhu, Melissa Pugliano-Mauro, Chrysalyne D Schmults, Sarah Schram, Allen F Shih, Thuzar Shin, Seaver Soon, Teresa Soriano, Divya Srivastava, Jennifer A Stein, Kara Sternhell-Blackwell, Stan Taylor, Allison Vidimos, Peggy Wu, Nicholas Zajdel, Daniel Zelac, Sarah T Arron
Importance: Skin cancer is the most common malignancy occurring after organ transplantation. Although previous research has reported an increased risk of skin cancer in solid organ transplant recipients (OTRs), no study has estimated the posttransplant population-based incidence in the United States. Objective: To determine the incidence and evaluate the risk factors for posttransplant skin cancer, including squamous cell carcinoma (SCC), melanoma (MM), and Merkel cell carcinoma (MCC) in a cohort of US OTRs receiving a primary organ transplant in 2003 or 2008...
March 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28067620/characterisation-of-the-opposing-effects-of-g6pd-deficiency-on-cerebral-malaria-and-severe-malarial-anaemia
#14
Geraldine M Clarke, Kirk Rockett, Katja Kivinen, Christina Hubbart, Anna E Jeffreys, Kate Rowlands, Muminatou Jallow, David J Conway, Kalifa A Bojang, Margaret Pinder, Stanley Usen, Fatoumatta Sisay-Joof, Giorgio Sirugo, Ousmane Toure, Mahamadou A Thera, Salimata Konate, Sibiry Sissoko, Amadou Niangaly, Belco Poudiougou, Valentina D Mangano, Edith C Bougouma, Sodiomon B Sirima, David Modiano, Lucas N Amenga-Etego, Anita Ghansah, Kwadwo A Koram, Michael D Wilson, Anthony Enimil, Jennifer Evans, Olukemi K Amodu, Subulade Olaniyan, Tobias Apinjoh, Regina Mugri, Andre Ndi, Carolyne M Ndila, Sophie Uyoga, Alexander Macharia, Norbert Peshu, Thomas N Williams, Alphaxard Manjurano, Nuno Sepúlveda, Taane G Clark, Eleanor Riley, Chris Drakeley, Hugh Reyburn, Vysaul Nyirongo, David Kachala, Malcolm Molyneux, Sarah J Dunstan, Nguyen Hoan Phu, Nguyen Ngoc Quyen, Cao Quang Thai, Tran Tinh Hien, Laurens Manning, Moses Laman, Peter Siba, Harin Karunajeewa, Steve Allen, Angela Allen, Timothy Me Davis, Pascal Michon, Ivo Mueller, Síle F Molloy, Susana Campino, Angeliki Kerasidou, Victoria J Cornelius, Lee Hart, Shivang S Shah, Gavin Band, Chris Ca Spencer, Tsiri Agbenyega, Eric Achidi, Ogobara K Doumbo, Jeremy Farrar, Kevin Marsh, Terrie Taylor, Dominic P Kwiatkowski
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plasmodium falciparum malaria, but the precise nature of the protective effecthas proved difficult to define as G6PD deficiency has multiple allelic variants with different effects in males and females, and it has heterogeneous effects on the clinical outcome of P. falciparum infection. Here we report an analysis of multiple allelic forms of G6PD deficiency in a large multi-centre case-control study of severe malaria, using the WHO classification of G6PD mutations to estimate each individual's level of enzyme activity from their genotype...
January 9, 2017: ELife
https://www.readbyqxmd.com/read/28004057/long-term-safety-and-efficacy-of-extended-interval-prophylaxis-with-recombinant-factor-ix-fc-fusion-protein-rfixfc-in-subjects-with-haemophilia-b
#15
K John Pasi, Kathelijn Fischer, Margaret Ragni, Beatrice Nolan, David J Perry, Roshni Kulkarni, Margareth Ozelo, Johnny Mahlangu, Amy D Shapiro, Ross I Baker, Carolyn M Bennett, Christopher Barnes, Johannes Oldenburg, Tadashi Matsushita, Huixing Yuan, Alejandra Ramirez-Santiago, Glenn F Pierce, Geoffrey Allen, Baisong Mei
The safety, efficacy, and prolonged half-life of recombinant factor IX Fc fusion protein (rFIXFc) were demonstrated in the Phase 3 B-LONG (adults/adolescents ≥12 years) and Kids B-LONG (children <12 years) studies of subjects with haemophilia B (≤2 IU/dl). Here, we report interim, long-term safety and efficacy data from B-YOND, the rFIXFc extension study. Eligible subjects who completed B-LONG or Kids B-LONG could enrol in B-YOND. There were four treatment groups: weekly prophylaxis (20-100 IU/kg every 7 days), individualised prophylaxis (100 IU/kg every 8-16 days), modified prophylaxis (further dosing personalisation to optimise prophylaxis), and episodic (on-demand) treatment...
December 22, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27776247/delay-discounting-in-opioid-use-disorder-differences-between-heroin-and-prescription-opioid-users
#16
Sterling L Karakula, Roger D Weiss, Margaret L Griffin, Allison M Borges, Allen J Bailey, R Kathryn McHugh
BACKGROUND: Among those with opioid use disorder, heroin use is associated with poorer prognosis relative to use of prescription opioids alone. However, relatively little is known about distinguishing features between those who use heroin relative to those who use prescription opioids. In the present study we evaluated differences in delay discounting in those with opioid use disorder based on primary opioid of use. Delay discounting is associated with a range of negative outcomes and is an important therapeutic target in this population...
December 1, 2016: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/27308046/crystal-structure-of-tris-pyridin-2-ylmeth-yl-amine-%C3%AE%C2%BA-4-n-copper-ii-bromide
#17
Emma C Bridgman, Megan M Doherty, Kaleigh A Ellis, Elizabeth A Homer, Taylor N Lashbrook, Margaret E Mraz, Gina C Pernesky, Emma M Vreeke, Kayode D Oshin, Allen G Oliver
In the asymmetric unit of the title compound, [CuBr(C18H18N4)]Br, there are three crystallographically independent cations. One of the cations exhibits positional disorder of the pyridin-2-yl-methyl groups over two sets of sites with refined occupancies of 0.672 (8) and 0.328 (8). The outer-sphere bromine counter-ion is severely disordered over multiple sites. In each cation, the Cu(II) ion is coordinated by the four N atoms of the tris-(pyridin-2-ylmeth-yl)amine ligand and one bromine and adopts a slightly distorted trigonal-bipyramidal geometry...
June 1, 2016: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/27276562/exome-sequencing-and-the-management-of-neurometabolic-disorders
#18
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R Baumgartner, Patricie Burda, Mary B Connolly, Jessie Cameron, Michelle Demos, Tammie Dewan, Janis Dionne, A Mark Evans, Jan M Friedman, Ian Garber, Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, Andre Mattman, Margaret McKinnon, Aspasia Michoulas, Daniel Metzger, Oluseye A Ogunbayo, Bojana Rakic, Jacob Rozmus, Peter Ruben, Bryan Sayson, Saikat Santra, Kirk R Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti-Furga, Stuart E Turvey, Margot I Van Allen, David Wishart, Jiang Wu, John Wu, Dimitrios Zafeiriou, Leo Kluijtmans, Ron A Wevers, Patrice Eydoux, Anna M Lehman, Hilary Vallance, Sylvia Stockler-Ipsiroglu, Graham Sinclair, Wyeth W Wasserman, Clara D van Karnebeek
BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level. METHODS: To uncover the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization of the discrete components of a patient's clinical and biochemical phenotype) with whole-exome sequencing analysis through a semiautomated bioinformatics pipeline in consecutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenotypes...
June 9, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27043413/acidic-chitinase-primes-the-protective-immune-response-to-gastrointestinal-nematodes
#19
Kevin M Vannella, Thirumalai R Ramalingam, Kevin M Hart, Rafael de Queiroz Prado, Joshua Sciurba, Luke Barron, Lee A Borthwick, Allen D Smith, Margaret Mentink-Kane, Sandra White, Robert W Thompson, Allen W Cheever, Kevin Bock, Ian Moore, Lori J Fitz, Joseph F Urban, Thomas A Wynn
Acidic mammalian chitinase (AMCase) is known to be induced by allergens and helminths, yet its role in immunity is unclear. Using AMCase-deficient mice, we show that AMCase deficiency reduced the number of group 2 innate lymphoid cells during allergen challenge but was not required for establishment of type 2 inflammation in the lung in response to allergens or helminths. In contrast, AMCase-deficient mice showed a profound defect in type 2 immunity following infection with the chitin-containing gastrointestinal nematodes Nippostrongylus brasiliensis and Heligmosomoides polygyrus bakeri...
May 2016: Nature Immunology
https://www.readbyqxmd.com/read/26921161/effects-of-a-video-on-organ-donation-consent-among-primary-care-patients-a-randomized-controlled-trial
#20
J Daryl Thornton, Catherine Sullivan, Jeffrey M Albert, Maria Cedeño, Bridget Patrick, Julie Pencak, Kristine A Wong, Margaret D Allen, Linda Kimble, Heather Mekesa, Gordon Bowen, Ashwini R Sehgal
BACKGROUND: Low organ donation rates remain a major barrier to organ transplantation. OBJECTIVE: We aimed to determine the effect of a video and patient cueing on organ donation consent among patients meeting with their primary care provider. DESIGN: This was a randomized controlled trial between February 2013 and May 2014. SETTING: The waiting rooms of 18 primary care clinics of a medical system in Cuyahoga County, Ohio...
August 2016: Journal of General Internal Medicine
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