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Mark Daly

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https://www.readbyqxmd.com/read/29158528/fine-mapping-of-genetic-loci-driving-spontaneous-clearance-of-hepatitis-c-virus-infection
#1
Hailiang Huang, Priya Duggal, Chloe L Thio, Rachel Latanich, James J Goedert, Alessandra Mangia, Andrea L Cox, Gregory D Kirk, Shruti Mehta, Jasneet Aneja, Laurent Alric, Sharyne M Donfield, Matthew E Cramp, Salim I Khakoo, Leslie H Tobler, Michael Busch, Graeme J Alexander, Hugo R Rosen, Brian R Edlin, Florencia P Segal, Georg M Lauer, David L Thomas, Mark J Daly, Raymond T Chung, Arthur Y Kim
Approximately three quarters of acute hepatitis C (HCV) infections evolve to a chronic state, while one quarter are spontaneously cleared. Genetic predispositions strongly contribute to the development of chronicity. We have conducted a genome-wide association study to identify genomic variants underlying HCV spontaneous clearance using ImmunoChip in European and African ancestries. We confirmed two previously reported significant associations, in the IL28B/IFNL4 and the major histocompatibility complex (MHC) regions, with spontaneous clearance in the European population...
November 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29144450/corrigendum-high-throughput-discovery-of-novel-developmental-phenotypes
#2
Mary E Dickinson, Ann M Flenniken, Xiao Ji, Lydia Teboul, Michael D Wong, Jacqueline K White, Terrence F Meehan, Wolfgang J Weninger, Henrik Westerberg, Hibret Adissu, Candice N Baker, Lynette Bower, James M Brown, L Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J Daly, James M Denegre, Brendan Doe, Mary E Dolan, Sarah M Edie Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R Horner, Chih-Wei Hsu, Sara J Johnson, Sowmya Kalaga, Lance C Keith, Louise Lanoue, Thomas N Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L McElwee, Susan Newbigging Lauryl M J Nutter, Kevin A Peterson, Ramiro Ramirez-Solis, Douglas J Rowland, Edward Ryder, Kaitlin E Samocha, John R Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B West, Leeyean Wong, Atsushi Yoshiki, Wolfgang Wurst, Daniel G MacArthur, Glauco P Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C Skarnes, Monica J Justice, Helen E Parkinson, Mark Moore, Sara Wells, Robert E Braun, Karen L Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R Mark Henkelman, Steve D M Brown, David J Adams, K C Kent Lloyd, Colin McKerlie, Arthur L Beaudet, Maja Bućan Stephen A Murray
This corrects the article DOI: 10.1038/nature19356.
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29125192/long-term-outcomes-among-2-year-survivors-of-autologous-hematopoietic-cell-transplantation-for-hodgkin-and-diffuse-large-b-cell-lymphoma
#3
Regina M Myers, Brian T Hill, Bronwen E Shaw, Soyoung Kim, Heather R Millard, Minoo Battiwalla, Navneet S Majhail, David Buchbinder, Hillard M Lazarus, Bipin N Savani, Mary E D Flowers, Anita D'Souza, Matthew J Ehrhardt, Amelia Langston, Jean A Yared, Robert J Hayashi, Andrew Daly, Richard F Olsson, Yoshihiro Inamoto, Adriana K Malone, Zachariah DeFilipp, Steven P Margossian, Anne B Warwick, Samantha Jaglowski, Amer Beitinjaneh, Henry Fung, Kimberly A Kasow, David I Marks, Jana Reynolds, Keith Stockerl-Goldstein, Baldeep Wirk, William A Wood, Mehdi Hamadani, Prakash Satwani
BACKGROUND: Autologous hematopoietic cell transplantation (auto-HCT) is a standard therapy for relapsed classic Hodgkin lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL); however, long-term outcomes are not well described. METHODS: This study analyzed survival, nonrelapse mortality, late effects, and subsequent malignant neoplasms (SMNs) in 1617 patients who survived progression-free for ≥2 years after auto-HCT for cHL or DLBCL between 1990 and 2008. The median age at auto-HCT was 40 years; the median follow-up was 10...
November 10, 2017: Cancer
https://www.readbyqxmd.com/read/29096948/the-lancet-countdown-on-health-and-climate-change-from-25-years-of-inaction-to-a-global-transformation-for-public-health
#4
REVIEW
Nick Watts, Markus Amann, Sonja Ayeb-Karlsson, Kristine Belesova, Timothy Bouley, Maxwell Boykoff, Peter Byass, Wenjia Cai, Diarmid Campbell-Lendrum, Jonathan Chambers, Peter M Cox, Meaghan Daly, Niheer Dasandi, Michael Davies, Michael Depledge, Anneliese Depoux, Paula Dominguez-Salas, Paul Drummond, Paul Ekins, Antoine Flahault, Howard Frumkin, Lucien Georgeson, Mostafa Ghanei, Delia Grace, Hilary Graham, Rébecca Grojsman, Andy Haines, Ian Hamilton, Stella Hartinger, Anne Johnson, Ilan Kelman, Gregor Kiesewetter, Dominic Kniveton, Lu Liang, Melissa Lott, Robert Lowe, Georgina Mace, Maquins Odhiambo Sewe, Mark Maslin, Slava Mikhaylov, James Milner, Ali Mohammad Latifi, Maziar Moradi-Lakeh, Karyn Morrissey, Kris Murray, Tara Neville, Maria Nilsson, Tadj Oreszczyn, Fereidoon Owfi, David Pencheon, Steve Pye, Mahnaz Rabbaniha, Elizabeth Robinson, Joacim Rocklöv, Stefanie Schütte, Joy Shumake-Guillemot, Rebecca Steinbach, Meisam Tabatabaei, Nicola Wheeler, Paul Wilkinson, Peng Gong, Hugh Montgomery, Anthony Costello
No abstract text is available yet for this article.
October 30, 2017: Lancet
https://www.readbyqxmd.com/read/29073062/small-molecule-inhibitors-directly-target-card9-and-mimic-its-protective-variant-in-inflammatory-bowel-disease
#5
Elizaveta S Leshchiner, Jason S Rush, Michael A Durney, Zhifang Cao, Vlado Dančík, Benjamin Chittick, Huixian Wu, Adam Petrone, Joshua A Bittker, Andrew Phillips, Jose R Perez, Alykhan F Shamji, Virendar K Kaushik, Mark J Daly, Daniel B Graham, Stuart L Schreiber, Ramnik J Xavier
Advances in human genetics have dramatically expanded our understanding of complex heritable diseases. Genome-wide association studies have identified an allelic series of CARD9 variants associated with increased risk of or protection from inflammatory bowel disease (IBD). The predisposing variant of CARD9 is associated with increased NF-κB-mediated cytokine production. Conversely, the protective variant lacks a functional C-terminal domain and is unable to recruit the E3 ubiquitin ligase TRIM62. Here, we used biochemical insights into CARD9 variant proteins to create a blueprint for IBD therapeutics and recapitulated the mechanism of the CARD9 protective variant using small molecules...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29059683/association-analysis-identifies-65-new-breast-cancer-risk-loci
#6
Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemaçon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D French, Xiao Qing Chen, Laura Fachal, Karen McCue, Amy E McCart Reed, Maya Ghoussaini, Jason S Carroll, Xia Jiang, Hilary Finucane, Marcia Adams, Muriel A Adank, Habibul Ahsan, Kristiina Aittomäki, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Banu Arun, Paul L Auer, François Bacot, Myrto Barrdahl, Caroline Baynes, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Judith S Brand, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Louise Brinton, Per Broberg, Ian W Brock, Annegien Broeks, Angela Brooks-Wilson, Sara Y Brucker, Thomas Brüning, Barbara Burwinkel, Katja Butterbach, Qiuyin Cai, Hui Cai, Trinidad Caldés, Federico Canzian, Angel Carracedo, Brian D Carter, Jose E Castelao, Tsun L Chan, Ting-Yuan David Cheng, Kee Seng Chia, Ji-Yeob Choi, Hans Christiansen, Christine L Clarke, Margriet Collée, Don M Conroy, Emilie Cordina-Duverger, Sten Cornelissen, David G Cox, Angela Cox, Simon S Cross, Julie M Cunningham, Kamila Czene, Mary B Daly, Peter Devilee, Kimberly F Doheny, Thilo Dörk, Isabel Dos-Santos-Silva, Martine Dumont, Lorraine Durcan, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Carolina Ellberg, Mingajeva Elvira, Christoph Engel, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Valerie Gaborieau, Marike Gabrielson, Manuela Gago-Dominguez, Yu-Tang Gao, Susan M Gapstur, José A García-Sáenz, Mia M Gaudet, Vassilios Georgoulias, Graham G Giles, Gord Glendon, Mark S Goldberg, David E Goldgar, Anna González-Neira, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Ute Hamann, Nathalie Hamel, Susan Hankinson, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Dona N Ho, Antoinette Hollestelle, Maartje J Hooning, Robert N Hoover, John L Hopper, Ming-Feng Hou, Chia-Ni Hsiung, Guanmengqian Huang, Keith Humphreys, Junko Ishiguro, Hidemi Ito, Motoki Iwasaki, Hiroji Iwata, Anna Jakubowska, Wolfgang Janni, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Yoshio Kasuga, Michael J Kerin, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Veli-Matti Kosma, Vessela N Kristensen, Ute Krüger, Ava Kwong, Diether Lambrechts, Loic Le Marchand, Eunjung Lee, Min Hyuk Lee, Jong Won Lee, Chuen Neng Lee, Flavio Lejbkowicz, Jingmei Li, Jenna Lilyquist, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Craig Luccarini, Michael P Lux, Edmond S K Ma, Robert J MacInnis, Tom Maishman, Enes Makalic, Kathleen E Malone, Ivana Maleva Kostovska, Arto Mannermaa, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, Shivaani Mariapun, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, James McKay, Catriona McLean, Hanne Meijers-Heijboer, Alfons Meindl, Primitiva Menéndez, Usha Menon, Jeffery Meyer, Hui Miao, Nicola Miller, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Sune F Nielsen, Dong-Young Noh, Børge G Nordestgaard, Aaron Norman, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Curtis Olswold, Nick Orr, V Shane Pankratz, Sue K Park, Tjoung-Won Park-Simon, Rachel Lloyd, Jose I A Perez, Paolo Peterlongo, Julian Peto, Kelly-Anne Phillips, Mila Pinchev, Dijana Plaseska-Karanfilska, Ross Prentice, Nadege Presneau, Darya Prokofyeva, Elizabeth Pugh, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Gadi Rennert, Hedy S Rennert, Valerie Rhenius, Atocha Romero, Jane Romm, Kathryn J Ruddy, Thomas Rüdiger, Anja Rudolph, Matthias Ruebner, Emiel J T Rutgers, Emmanouil Saloustros, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Rodney J Scott, Christopher Scott, Sheila Seal, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Grace Sheng, Mark E Sherman, Martha J Shrubsole, Xiao-Ou Shu, Ann Smeets, Christof Sohn, Melissa C Southey, John J Spinelli, Christa Stegmaier, Sarah Stewart-Brown, Jennifer Stone, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Rulla Tamimi, Jack A Taylor, Maria Tengström, Soo H Teo, Mary Beth Terry, Daniel C Tessier, Somchai Thanasitthichai, Kathrin Thöne, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Shoichiro Tsugane, Hans-Ulrich Ulmer, Giske Ursin, Michael Untch, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Lizet van der Kolk, Rob B van der Luijt, Daniel Vincent, Jason Vollenweider, Quinten Waisfisz, Shan Wang-Gohrke, Clarice R Weinberg, Camilla Wendt, Alice S Whittemore, Hans Wildiers, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Taiki Yamaji, Xiaohong R Yang, Cheng Har Yip, Keun-Young Yoo, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Sunil R Lakhani, Antonis C Antoniou, Arnaud Droit, Irene L Andrulis, Christopher I Amos, Fergus J Couch, Paul D P Pharoah, Jenny Chang-Claude, Per Hall, David J Hunter, Roger L Milne, Montserrat García-Closas, Marjanka K Schmidt, Stephen J Chanock, Alison M Dunning, Stacey L Edwards, Gary D Bader, Georgia Chenevix-Trench, Jacques Simard, Peter Kraft, Douglas F Easton
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10(-8)...
November 2, 2017: Nature
https://www.readbyqxmd.com/read/29059179/cost-effectiveness-of-adding-indoor-residual-spraying-to-case-management-in-afghan-refugee-settlements-in-northwest-pakistan-during-a-prolonged-malaria-epidemic
#7
Natasha Howard, Lorna Guinness, Mark Rowland, Naeem Durrani, Kristian S Hansen
INTRODUCTION: Financing of malaria control for displaced populations is limited in scope and duration, making cost-effectiveness analyses relevant but difficult. This study analyses cost-effectiveness of adding prevention through targeted indoor residual spraying (IRS) to case management in Afghan refugee settlements in Pakistan during a prolonged malaria epidemic. METHODS/FINDINGS: An intervention study design was selected, taking a societal perspective. Provider and household costs of vector control and case management were collected from provider records and community survey...
October 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29058716/identification-of-ten-variants-associated-with-risk-of-estrogen-receptor-negative-breast-cancer
#8
Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Christine B Ambrosone, Christopher I Amos, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Norbert Arnold, Kristan J Aronson, Bernd Auber, Paul L Auer, Margreet G E M Ausems, Jacopo Azzollini, François Bacot, Judith Balmaña, Monica Barile, Laure Barjhoux, Rosa B Barkardottir, Myrto Barrdahl, Daniel Barnes, Daniel Barrowdale, Caroline Baynes, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Yves-Jean Bignon, Kathleen R Blazer, Marinus J Blok, Carl Blomqvist, William Blot, Kristie Bobolis, Bram Boeckx, Natalia V Bogdanova, Anders Bojesen, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Aniko Bozsik, Angela R Bradbury, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Brigitte Bressac-de Paillerets, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Joan Brunet, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Jinyoung Byun, Qiuyin Cai, Trinidad Caldés, Maria A Caligo, Ian Campbell, Federico Canzian, Olivier Caron, Angel Carracedo, Brian D Carter, J Esteban Castelao, Laurent Castera, Virginie Caux-Moncoutier, Salina B Chan, Jenny Chang-Claude, Stephen J Chanock, Xiaoqing Chen, Ting-Yuan David Cheng, Jocelyne Chiquette, Hans Christiansen, Kathleen B M Claes, Christine L Clarke, Thomas Conner, Don M Conroy, Jackie Cook, Emilie Cordina-Duverger, Sten Cornelissen, Isabelle Coupier, Angela Cox, David G Cox, Simon S Cross, Katarina Cuk, Julie M Cunningham, Kamila Czene, Mary B Daly, Francesca Damiola, Hatef Darabi, Rosemarie Davidson, Kim De Leeneer, Peter Devilee, Ed Dicks, Orland Diez, Yuan Chun Ding, Nina Ditsch, Kimberly F Doheny, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Stéphane Dubois, Pierre-Antoine Dugué, Martine Dumont, Alison M Dunning, Lorraine Durcan, Miriam Dwek, Bernd Dworniczak, Diana Eccles, Ros Eeles, Hans Ehrencrona, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, A Heather Eliassen, Christoph Engel, Mikael Eriksson, Laura Fachal, Laurence Faivre, Peter A Fasching, Ulrike Faust, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, William D Foulkes, Eitan Friedman, Lin Fritschi, Debra Frost, Marike Gabrielson, Pragna Gaddam, Marilie D Gammon, Patricia A Ganz, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, José A García-Sáenz, Mia M Gaudet, Marion Gauthier-Villars, Andrea Gehrig, Vassilios Georgoulias, Anne-Marie Gerdes, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Paul Goodfellow, Mark H Greene, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Daphne Gschwantler-Kaulich, Pascal Guénel, Qi Guo, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Emily Hallberg, Ute Hamann, Nathalie Hamel, Susan Hankinson, Thomas V O Hansen, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Catherine S Healey, Alexander Hein, Sonja Helbig, Alex Henderson, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Shirley Hodgson, Frans B Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Bob Hoover, John L Hopper, Chunling Hu, Guanmengqian Huang, Peter J Hulick, Keith Humphreys, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Motoki Iwasaki, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Uffe Birk Jensen, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Karin Kast, Renske Keeman, Michael J Kerin, Carolien M Kets, Machteld Keupers, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela N Kristensen, Torben A Kruse, Ava Kwong, Anne-Vibeke Lænkholm, Yael Laitman, Fiona Lalloo, Diether Lambrechts, Keren Landsman, Christine Lasset, Conxi Lazaro, Loic Le Marchand, Julie Lecarpentier, Andrew Lee, Eunjung Lee, Jong Won Lee, Min Hyuk Lee, Flavio Lejbkowicz, Fabienne Lesueur, Jingmei Li, Jenna Lilyquist, Anne Lincoln, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Jennifer T Loud, Jan Lubinski, Craig Luccarini, Michael Lush, Robert J MacInnis, Tom Maishman, Enes Makalic, Ivana Maleva Kostovska, Kathleen E Malone, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, John W M Martens, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, Sylvie Mazoyer, Catriona McLean, Hanne Meijers-Heijboer, Primitiva Menéndez, Jeffery Meyer, Hui Miao, Austin Miller, Nicola Miller, Gillian Mitchell, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Sue Nadesan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Dieter Niederacher, Sune F Nielsen, Børge G Nordestgaard, Aaron Norman, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, Kai-Ren Ong, Jan C Oosterwijk, Nick Orr, Ana Osorio, V Shane Pankratz, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Rachel Lloyd, Inge Søkilde Pedersen, Bernard Peissel, Ana Peixoto, Jose I A Perez, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Mila Pinchev, Dijana Plaseska-Karanfilska, Bruce Poppe, Mary E Porteous, Ross Prentice, Nadege Presneau, Darya Prokofieva, Elizabeth Pugh, Miquel Angel Pujana, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Kerstin Rhiem, Andrea Richardson, Gustavo C Rodriguez, Atocha Romero, Jane Romm, Matti A Rookus, Anja Rudolph, Thomas Ruediger, Emmanouil Saloustros, Joyce Sanders, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Lukas Schwentner, Christopher Scott, Rodney J Scott, Sheila Seal, Leigha Senter, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xin Sheng, Hermela Shimelis, Martha J Shrubsole, Xiao-Ou Shu, Lucy E Side, Christian F Singer, Christof Sohn, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Christa Stegmaier, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Harald Surowy, Christian Sutter, Anthony Swerdlow, Csilla I Szabo, Rulla M Tamimi, Yen Y Tan, Jack A Taylor, Maria-Isabel Tejada, Maria Tengström, Soo H Teo, Mary B Terry, Daniel C Tessier, Alex Teulé, Kathrin Thöne, Darcy L Thull, Maria Grazia Tibiletti, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Martine Tranchant, Thérèse Truong, Kathy Tucker, Nadine Tung, Jonathan Tyrer, Hans-Ulrich Ulmer, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Alessandra Viel, Joseph Vijai, Daniel Vincent, Jason Vollenweider, Lisa Walker, Zhaoming Wang, Shan Wang-Gohrke, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Jelle Wesseling, Alice S Whittemore, Juul T Wijnen, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Xiaohong R Yang, Drakoulis Yannoukakos, Daniela Zaffaroni, Wei Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Kristin K Zorn, Manuela Gago-Dominguez, Arto Mannermaa, Håkan Olsson, Manuel R Teixeira, Jennifer Stone, Kenneth Offit, Laura Ottini, Sue K Park, Mads Thomassen, Per Hall, Alfons Meindl, Rita K Schmutzler, Arnaud Droit, Gary D Bader, Paul D P Pharoah, Fergus J Couch, Douglas F Easton, Peter Kraft, Georgia Chenevix-Trench, Montserrat García-Closas, Marjanka K Schmidt, Antonis C Antoniou, Jacques Simard
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies...
October 23, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29027109/scenarios-to-manage-the-hepatitis-c-disease-burden-and-associated-economic-impact-of-treatment-in-turkey
#9
Necati Örmeci, Simten Malhan, İsmail Balık, Gül Ergör, Homie Razavi, Sarah Robbins
BACKGROUND: Hepatitis C virus (HCV) infection is a significant health problem. The aim of this study is to evaluate the cost-effectiveness of HCV treatment and estimate its economic burden in Turkey. METHODS: An Excel-based disease progression model was used to estimate the HCV-infected population for 2015-2030. Direct costs in US dollars (USD) including diagnostic, laboratory, and healthcare costs were provided by experts in the country. Indirect costs were estimated as lost productivity using the World Health Organization (WHO) disability-adjusted life years (DALYs) metric from the Global Burden of Disease study...
October 12, 2017: Hepatology International
https://www.readbyqxmd.com/read/28983069/fine-scale-genetic-structure-in-finland
#10
Sini Kerminen, Aki S Havulinna, Garrett Hellenthal, Alicia R Martin, Antti-Pekka Sarin, Markus Perola, Aarno Palotie, Veikko Salomaa, Mark J Daly, Samuli Ripatti, Matti Pirinen
Coupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference data sets become available. We study such a reference data set for Finland containing 2376 such individuals from the FINRISK Study survey of 1997 both of whose parents were born close to each other. This sampling strategy focuses on the population structure present in Finland before the 1950s. By using the recent haplotype-based methods ChromoPainter (CP) and FineSTRUCTURE (FS) we reveal a highly geographically clustered genetic structure in Finland and report its connections to the settlement history as well as to the current dialectal regions of the Finnish language...
October 5, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28951123/quantitative-multiphoton-microscopy-of-murine-urinary-bladder-morphology-during-in-situ-uniaxial-loading
#11
Jack Hornsby, Donna M Daly, David Grundy, Fangzhou Cheng, Anne M Robertson, Paul N Watton, Mark S Thompson
Urodynamic tests are the gold standard for the diagnosis of bladder dysfunction, and the mechanical compliance of the bladder is an important parameter in these tests. The bladder wall has a layered structure, differentially affected by pathology, so knowledge of the contribution and role of these layers and their constituents to overall bladder compliance will enhance interpretation of these clinical tests. In this study we document the functional morphology of the detrusor and lamina propria of the murine bladder wall using a custom in-situ tensile loading system under multiphoton microscopy (MPM) observation in unloaded state and under incremental uniaxial stretch...
December 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28917976/low-molecular-weight-fucoidan-ameliorates-hindlimb-ischemic-injury-in-type-2-diabetic-rats
#12
Zhiqiang Wang, Tiantian Liu, Xiaoping Chen, Hongjie You, Quanbin Zhang, Jingyi Xue, Yuanyuan Zheng, Dali Luo
ETHNOPHARMACOLOGICAL RELEVANCE: Low molecular weight fucoidan (LMWF), extracted from Laminaria japonica Areschoug, is a traditional Chinese medicine, commonly used to alleviate edema, particularly for feet with numbness and pain. AIM OF THE STUDY: Diabetic mellitus (DM) patients are at high risk of developing peripheral arterial disease (PAD). Individuals with DM and PAD co-morbidity have a much higher risk of critical limb ischemia. LMWF showed several beneficial effects, such as anti-inflammation, anti-thrombosis, and enhancing revascularization...
September 14, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28899316/road-safety-serious-injuries-remain-a-major-unsolved-problem
#13
Ben Beck, Peter A Cameron, Mark C Fitzgerald, Rodney T Judson, Warwick Teague, Ronan A Lyons, Belinda J Gabbe
OBJECTIVE: To investigate temporal trends in the incidence, mortality, disability-adjusted life-years (DALYs), and costs of health loss caused by serious road traffic injury. DESIGN, SETTING AND PARTICIPANTS: A retrospective review of data from the population-based Victorian State Trauma Registry and the National Coronial Information System on road traffic-related deaths (pre- and in-hospital) and major trauma (Injury Severity Score > 12) during 2007-2015.Main outcomes and measures: Temporal trends in the incidence of road traffic-related major trauma, mortality, DALYs, and costs of health loss, by road user type...
September 18, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28854172/discovery-of-stimulation-responsive-immune-enhancers-with-crispr-activation
#14
Dimitre R Simeonov, Benjamin G Gowen, Mandy Boontanrart, Theodore L Roth, John D Gagnon, Maxwell R Mumbach, Ansuman T Satpathy, Youjin Lee, Nicolas L Bray, Alice Y Chan, Dmytro S Lituiev, Michelle L Nguyen, Rachel E Gate, Meena Subramaniam, Zhongmei Li, Jonathan M Woo, Therese Mitros, Graham J Ray, Gemma L Curie, Nicki Naddaf, Julia S Chu, Hong Ma, Eric Boyer, Frederic Van Gool, Hailiang Huang, Ruize Liu, Victoria R Tobin, Kathrin Schumann, Mark J Daly, Kyle K Farh, K Mark Ansel, Chun J Ye, William J Greenleaf, Mark S Anderson, Jeffrey A Bluestone, Howard Y Chang, Jacob E Corn, Alexander Marson
The majority of genetic variants associated with common human diseases map to enhancers, non-coding elements that shape cell-type-specific transcriptional programs and responses to extracellular cues. Systematic mapping of functional enhancers and their biological contexts is required to understand the mechanisms by which variation in non-coding genetic sequences contributes to disease. Functional enhancers can be mapped by genomic sequence disruption, but this approach is limited to the subset of enhancers that are necessary in the particular cellular context being studied...
September 7, 2017: Nature
https://www.readbyqxmd.com/read/28833619/cost-effective-options-for-the-prevention-and-management-of-gastrointestinal-and-liver-disease-in-the-asia-pacific-region
#15
REVIEW
Ian C Roberts-Thomson, Thomas Lung
The Asia-Pacific region contains more than half of the world's population and is markedly heterogeneous in relation to income levels and the provision of public and private health services. For low-income countries, the major health priorities are child and maternal health. In contrast, priorities for high-income countries include vascular disease, cancer, diabetes, dementia and mental health disorders as well as chronic inflammatory disorders such as hepatitis B and hepatitis C. Cost-effectiveness analyses are methods for assessing the gains in health relative to the costs of different health interventions...
August 17, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28778113/educational-and-vocational-goal-disruption-in-adolescent-and-young-adult-cancer-survivors
#16
Janine Vetsch, Claire E Wakefield, Brittany C McGill, Richard J Cohn, Sarah J Ellis, Natalie Stefanic, Susan M Sawyer, Brad Zebrack, Ursula M Sansom-Daly
OBJECTIVE: Cancer in adolescents and young adults (AYAs) can interrupt important developmental milestones. Absence from school and time lost from work, together with the physical impacts of treatment on energy and cognition, can disrupt educational and vocational goals. The purpose of this paper is to report on AYA cancer survivors' experiences of reintegration into school and/or work and to describe perceived changes in their educational and vocational goals. METHODS: AYAs recruited from seven hospitals in Australia, aged 15-26years and ≤24months post-treatment, were interviewed using the Psychosocial Adjustment to Illness Scale (PAIS)...
August 4, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28778040/health-impacts-related-to-urban-and-transport-planning-a-burden-of-disease-assessment
#17
Natalie Mueller, David Rojas-Rueda, Xavier Basagaña, Marta Cirach, Tom Cole-Hunter, Payam Dadvand, David Donaire-Gonzalez, Maria Foraster, Mireia Gascon, David Martinez, Cathryn Tonne, Margarita Triguero-Mas, Antònia Valentín, Mark Nieuwenhuijsen
INTRODUCTION: Until now, estimates of the Global Burden of Disease (GBD) have mainly been produced on national or regional levels. These general estimates, however, are less useful for city governments who have to take decisions on local scales. To address this gap, we focused on the city-level burden of disease (BD) due to exposures affected by urban and transport planning. We conducted a BD assessment using the Urban and Transport Planning Health Impact Assessment (UTOPHIA) tool to estimate annual preventable morbidity and disability-adjusted life-years (DALYs) under compliance with international exposure recommendations for physical activity (PA), exposure to air pollution, noise, heat, and access to green spaces in Barcelona, Spain...
October 2017: Environment International
https://www.readbyqxmd.com/read/28736940/seven-year-olds-aggressive-choices-in-a-computer-game-can-be-predicted-in-infancy
#18
Dale F Hay, Mark K Johansen, Peter Daly, Salim Hashmi, Charlotte Robinson, Stephan Collishaw, Stephanie van Goozen
Concerns about the relationship between computer games and children's aggression have been expressed for decades, but it is not yet clear whether the content of such games evokes aggression or a prior history of aggression promotes children's interest in aggressive games. Two hundred and sixty-six 7-year-old children from a nationally representative longitudinal sample in the UK played a novel computer game (CAMGAME) in which the child's avatar encountered a series of social challenges that might evoke aggressive, prosocial or neutral behaviour...
July 24, 2017: Developmental Science
https://www.readbyqxmd.com/read/28693697/-therapeutic-residential-care-for-children-and-youth-a-consensus-statement-of-the-international-work-group-on-therapeutic-residential-care
#19
James K Whittaker, Lisa Holmes, Jorge F Del Valle, Frank Ainsworth, Tore Andreassen, James Anglin, Christopher Bellonci, David Berridge, Amaia Bravo, Cinzia Canali, Mark Courtney, Laurah Currey, Daniel Daly, Robbie Gilligan, Hans Grietens, Annemiek Harder, Martha Holden, Sigrid James, Andrew Kendrick, Erick Knorth, Mette Lausten, John Lyons, Eduardo Martin, Samantha McDermid, Patricia McNamara, Laura Palareti, Susan Ramsey, Kari Sisson, Richard Small, June Thoburn, Ronald Thompson, Anat Zeira
Therapeutic Residential Care for Children and Youth: A Consensus Statement of the International Work Group on Therapeutic Residential Care. In many developed countries around the world residential care interventions for children and adolescents have come under increasing scrutiny. Against this background an international summit was organised in England (spring 2016) with experts from 13 countries to reflect on therapeutic residential care (TRC). The following working definition of TRC was leading: “Therapeutic residential care involves the planful use of a purposefully constructed, multi-dimensional living environment designed to enhance or provide treatment, education, socialization, support, and protection to children and youth with identified mental health or behavioral needs in partnership with their families and in collaboration with a full spectrum of community based formal and informal helping resources”...
August 2017: Psicothema
https://www.readbyqxmd.com/read/28692346/the-validation-of-an-lc-ms-ms-assay-for-perhexiline-and-major-hydroxy-metabolites-and-its-application-to-therapeutic-monitoring-in-patient-plasma
#20
Patrick Camilleri, Duxi Zhang, Mark Midei, William Daly, James Copp, Cindy Flinn, Carl Luongo, Pirouz Shamszad
AIM: Perhexiline (PEX), being developed to treat hypertrophic cardiomyopathy, is toxic at levels above the therapeutic range. Plasma level monitoring is therefore essential. The absence of a UV-absorbing chromophore has in the past required quantitative analysis of PEX in plasma using lengthy derivatization methods, followed by HPLC and fluorescence detection. The routine and urgent analysis of a large number of patient plasma samples necessitates faster and reliable analytical methodology...
July 10, 2017: Bioanalysis
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