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Margaret 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/29016858/maternal-bmi-at-the-start-of-pregnancy-and-offspring-epigenome-wide-dna-methylation-findings-from-the-pregnancy-and-childhood-epigenetics-pace-consortium
#4
Gemma C Sharp, Lucas A Salas, Claire Monnereau, Catherine Allard, Paul Yousefi, Todd M Everson, Jon Bohlin, Zongli Xu, Rae-Chi Huang, Sarah E Reese, Cheng-Jian Xu, Nour Baïz, Cathrine Hoyo, Golareh Agha, Ritu Roy, John W Holloway, Akram Ghantous, Simon K Merid, Kelly M Bakulski, Leanne K Küpers, Hongmei Zhang, Rebecca C Richmond, Christian M Page, Liesbeth Duijts, Rolv T Lie, Phillip E Melton, Judith M Vonk, Ellen A Nohr, ClarLynda Williams-DeVane, Karen Huen, Sheryl L Rifas-Shiman, Carlos Ruiz-Arenas, Semira Gonseth, Faisal I Rezwan, Zdenko Herceg, Sandra Ekström, Lisa Croen, Fahimeh Falahi, Patrice Perron, Margaret R Karagas, Bilal M Quraishi, Matthew Suderman, Maria C Magnus, Vincent W V Jaddoe, Jack A Taylor, Denise Anderson, Shanshan Zhao, Henriette A Smit, Michele J Josey, Asa Bradman, Andrea A Baccarelli, Mariona Bustamante, Siri E Håberg, Göran Pershagen, Irva Hertz-Picciotto, Craig Newschaffer, Eva Corpeleijn, Luigi Bouchard, Debbie A Lawlor, Rachel L Maguire, Lisa F Barcellos, George Davey Smith, Brenda Eskenazi, Wilfried Karmaus, Carmen J Marsit, Marie-France Hivert, Harold Snieder, M Daniele Fallin, Erik Melén, Monica C Munthe-Kaas, Hasan Arshad, Joseph L Wiemels, Isabella Annesi-Maesano, Martine Vrijheid, Emily Oken, Nina Holland, Susan K Murphy, Thorkild I A Sørensen, Gerard H Koppelman, John P Newnham, Allen J Wilcox, Wenche Nystad, Stephanie J London, Janine F Felix, Caroline L Relton
Pre-pregnancy maternal obesity is associated with adverse offspring outcomes at birth and later in life. Individual studies have shown that epigenetic modifications such as DNA methylation could contribute. Within the Pregnancy and Childhood Epigenetics (PACE) Consortium, we meta-analysed the association between pre-pregnancy maternal BMI and methylation at over 450,000 sites in newborn blood DNA, across 19 cohorts (9,340 mother-newborn pairs). We attempted to infer causality by comparing the effects of maternal versus paternal BMI and incorporating genetic variation...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28973574/allantoin-crystal-formation-in-bagrada-hilaris-burmeister-heteroptera-pentatomidae-females
#5
M Guadalupe Rojas, Michael J Grodowitz, Joseph Reibenspies, Darcy A Reed, Thomas M Perring, Margaret L Allen
Bagrada hilaris is a polyphagous herbivore reported as an invasive pest in the United States. During the course of dissecting Burmeister hilaris unique crystals were observed in both the midgut and oviducts. Crystals were identified using X-ray diffraction techniques. Both acicular (i.e., needle-like, slender, and/or tapered) and cubic (i.e., cube shaped) crystals were observed in six of 75 individuals examined (8.0%). The crystals were mainly observed in females (6.7%), followed by males (1.3%) with no crystals observed in the minimal number of nymphs examined (0%)...
May 1, 2017: Journal of Insect Science
https://www.readbyqxmd.com/read/28817590/reconstructing-asian-faunal-introductions-to-eastern-africa-from-multi-proxy-biomolecular-and-archaeological-datasets
#6
Mary E Prendergast, Michael Buckley, Alison Crowther, Laurent Frantz, Heidi Eager, Ophélie Lebrasseur, Rainer Hutterer, Ardern Hulme-Beaman, Wim Van Neer, Katerina Douka, Margaret-Ashley Veall, Eriéndira M Quintana Morales, Verena J Schuenemann, Ella Reiter, Richard Allen, Evangelos A Dimopoulos, Richard M Helm, Ceri Shipton, Ogeto Mwebi, Christiane Denys, Mark Horton, Stephanie Wynne-Jones, Jeffrey Fleisher, Chantal Radimilahy, Henry Wright, Jeremy B Searle, Johannes Krause, Greger Larson, Nicole L Boivin
Human-mediated biological exchange has had global social and ecological impacts. In sub-Saharan Africa, several domestic and commensal animals were introduced from Asia in the pre-modern period; however, the timing and nature of these introductions remain contentious. One model supports introduction to the eastern African coast after the mid-first millennium CE, while another posits introduction dating back to 3000 BCE. These distinct scenarios have implications for understanding the emergence of long-distance maritime connectivity, and the ecological and economic impacts of introduced species...
2017: PloS One
https://www.readbyqxmd.com/read/28723893/in-vivo-crispr-screening-identifies-ptpn2-as-a-cancer-immunotherapy-target
#7
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
#8
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
#9
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/28675119/what-do-patients-want-from-otolaryngologists-a-discrete-choice-experiment
#10
Matthew R Naunheim, Vinay K Rathi, Margaret L Naunheim, Blake C Alkire, Allen C Lam, Phillip C Song, Mark G Shrime
Objectives Patient preferences are crucial for the delivery of patient-centered care. Discrete choice experiments (DCEs) are an emerging quantitative methodology used for understanding these preferences. In this study, we employed DCE techniques to understand the preferences of patients presenting for an ear, nose, and throat clinic visit. Study Design DCE. Setting Decision science laboratory. Methods A DCE survey of 5 attributes-wait time, physician experience, physician personality, utilization of visit time, and cost/copayment-was constructed with structured qualitative interviews with patients...
October 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28579911/impact-of-the-lymphatic-filariasis-control-program-towards-elimination-of-filariasis-in-vanuatu-1997-2006
#11
Tammy Allen, Fasihah Taleo, Patricia M Graves, Peter Wood, George Taleo, Margaret C Baker, Mark Bradley, Kazuyo Ichimori
BACKGROUND: Lymphatic filariasis (LF) occurs when filarial parasites are transmitted to humans through mosquitoes. The filarial worms affect the lymphatic system which leads to abnormal enlargement of body parts, chronic pain, disability, and social discrimination. In 1999, a commitment was made to eliminate LF from the Pacific Region by 2010. The Pacific Program to Eliminate LF began, with Vanuatu being one of the 16 endemic countries included in this program. METHODS: In 1997/1998 a LF prevalence baseline survey was conducted to determine the need for mass drug administration (MDA) in Vanuatu...
2017: Tropical Medicine and Health
https://www.readbyqxmd.com/read/28554067/merging-contemporary-learning-theory-with-mental-health-promotion-to-produce-an-effective-schools-based-program
#12
Margaret McAllister, Bruce Allen Knight, Cathie Withyman
Approximately three quarters of all major mental disorders begin in adolescence. Finding ways to buffer against stress, access social support and connection and flexibly draw upon a range of coping mechanisms are vital strategies that young people can use to promote mental health and wellbeing and to navigate this turbulent life transition successfully. Within Australia, like other parts of the world such as the UK and the USA, it is a sad reality that when young people do become distressed they are not self-caring or supporting others effectively, and not seeking or receiving appropriate help...
July 2017: Nurse Education in Practice
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
#13
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
#14
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/28535127/modeling-virus-coinfection-to-inform-management-of-maize-lethal-necrosis-in-kenya
#15
Frank M Hilker, Linda J S Allen, Vrushali A Bokil, Cheryl J Briggs, Zhilan Feng, Karen A Garrett, Louis J Gross, Frédéric M Hamelin, Michael J Jeger, Carrie A Manore, Alison G Power, Margaret G Redinbaugh, Megan A Rúa, Nik J Cunniffe
Maize lethal necrosis (MLN) has emerged as a serious threat to food security in sub-Saharan Africa. MLN is caused by coinfection with two viruses, Maize chlorotic mottle virus and a potyvirus, often Sugarcane mosaic virus. To better understand the dynamics of MLN and to provide insight into disease management, we modeled the spread of the viruses causing MLN within and between growing seasons. The model allows for transmission via vectors, soil, and seed, as well as exogenous sources of infection. Following model parameterization, we predict how management affects disease prevalence and crop performance over multiple seasons...
August 1, 2017: Phytopathology
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
#16
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
#17
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
#18
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/28378354/ecological-regime-shift-drives-declining-growth-rates-of-sea-turtles-throughout-the-west-atlantic
#19
Karen A Bjorndal, Alan B Bolten, Milani Chaloupka, Vincent S Saba, Cláudio Bellini, Maria A G Marcovaldi, Armando J B Santos, Luis Felipe Wurdig Bortolon, Anne B Meylan, Peter A Meylan, Jennifer Gray, Robert Hardy, Beth Brost, Michael Bresette, Jonathan C Gorham, Stephen Connett, Barbara Van Sciver Crouchley, Mike Dawson, Deborah Hayes, Carlos E Diez, Robert P van Dam, Sue Willis, Mabel Nava, Kristen M Hart, Michael S Cherkiss, Andrew G Crowder, Clayton Pollock, Zandy Hillis-Starr, Fernando A Muñoz Tenería, Roberto Herrera-Pavón, Vanessa Labrada-Martagón, Armando Lorences, Ana Negrete-Philippe, Margaret M Lamont, Allen M Foley, Rhonda Bailey, Raymond R Carthy, Russell Scarpino, Erin McMichael, Jane A Provancha, Annabelle Brooks, Adriana Jardim, Milagros López-Mendilaharsu, Daniel González-Paredes, Andrés Estrades, Alejandro Fallabrino, Gustavo Martínez-Souza, Gabriela M Vélez-Rubio, Ralf H Boulon, Jaime A Collazo, Robert Wershoven, Vicente Guzmán Hernández, Thomas B Stringell, Amdeep Sanghera, Peter B Richardson, Annette C Broderick, Quinton Phillips, Marta Calosso, John A B Claydon, Tasha L Metz, Amanda L Gordon, Andre M Landry, Donna J Shaver, Janice Blumenthal, Lucy Collyer, Brendan J Godley, Andrew McGowan, Matthew J Witt, Cathi L Campbell, Cynthia J Lagueux, Thomas L Bethel, Lory Kenyon
Somatic growth is an integrated, individual-based response to environmental conditions, especially in ectotherms. Growth dynamics of large, mobile animals are particularly useful as bio-indicators of environmental change at regional scales. We assembled growth rate data from throughout the West Atlantic for green turtles, Chelonia mydas, which are long-lived, highly migratory, primarily herbivorous mega-consumers that may migrate over hundreds to thousands of kilometers. Our dataset, the largest ever compiled for sea turtles, has 9690 growth increments from 30 sites from Bermuda to Uruguay from 1973 to 2015...
April 4, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28333909/notes-from-the-field-obstetric-tetanus-in-an-unvaccinated-woman-after-a-home-birth-delivery-kentucky-2016
#20
Anna Q Yaffee, David L Day, Glenda Bastin, Mary Powell, Sandra Melendez, Nancy Allen, Julie Miracle, Margaret Jones, Robert Brawley
No abstract text is available yet for this article.
March 24, 2017: MMWR. Morbidity and Mortality Weekly Report
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