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Mark Daly

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https://www.readbyqxmd.com/read/27918777/global-regional-and-national-cancer-incidence-mortality-years-of-life-lost-years-lived-with-disability-and-disability-adjusted-life-years-for-32-cancer-groups-1990-to-2015-a-systematic-analysis-for-the-global-burden-of-disease-study
#1
Christina Fitzmaurice, Christine Allen, Ryan M Barber, Lars Barregard, Zulfiqar A Bhutta, Hermann Brenner, Daniel J Dicker, Odgerel Chimed-Orchir, Rakhi Dandona, Lalit Dandona, Tom Fleming, Mohammad H Forouzanfar, Jamie Hancock, Roderick J Hay, Rachel Hunter-Merrill, Chantal Huynh, H Dean Hosgood, Catherine O Johnson, Jost B Jonas, Jagdish Khubchandani, G Anil Kumar, Michael Kutz, Qing Lan, Heidi J Larson, Xiaofeng Liang, Stephen S Lim, Alan D Lopez, Michael F MacIntyre, Laurie Marczak, Neal Marquez, Ali H Mokdad, Christine Pinho, Farshad Pourmalek, Joshua A Salomon, Juan Ramon Sanabria, Logan Sandar, Benn Sartorius, Stephen M Schwartz, Katya A Shackelford, Kenji Shibuya, Jeff Stanaway, Caitlyn Steiner, Jiandong Sun, Ken Takahashi, Stein Emil Vollset, Theo Vos, Joseph A Wagner, Haidong Wang, Ronny Westerman, Hajo Zeeb, Leo Zoeckler, Foad Abd-Allah, Muktar Beshir Ahmed, Samer Alabed, Noore K Alam, Saleh Fahed Aldhahri, Girma Alem, Mulubirhan Assefa Alemayohu, Raghib Ali, Rajaa Al-Raddadi, Azmeraw Amare, Yaw Amoako, Al Artaman, Hamid Asayesh, Niguse Atnafu, Ashish Awasthi, Huda Ba Saleem, Aleksandra Barac, Neeraj Bedi, Isabela Bensenor, Adugnaw Berhane, Eduardo Bernabé, Balem Betsu, Agnes Binagwaho, Dube Boneya, Ismael Campos-Nonato, Carlos Castañeda-Orjuela, Ferrán Catalá-López, Peggy Chiang, Chioma Chibueze, Abdulaal Chitheer, Jee-Young Choi, Benjamin Cowie, Solomon Damtew, José das Neves, Suhojit Dey, Samath Dharmaratne, Preet Dhillon, Eric Ding, Tim Driscoll, Donatus Ekwueme, Aman Yesuf Endries, Maryam Farvid, Farshad Farzadfar, Joao Fernandes, Florian Fischer, Tsegaye Tewelde G/Hiwot, Alemseged Gebru, Sameer Gopalani, Alemayehu Hailu, Masako Horino, Nobuyuki Horita, Abdullatif Husseini, Inge Huybrechts, Manami Inoue, Farhad Islami, Mihajlo Jakovljevic, Spencer James, Mehdi Javanbakht, Sun Ha Jee, Amir Kasaeian, Muktar Sano Kedir, Yousef S Khader, Young-Ho Khang, Daniel Kim, James Leigh, Shai Linn, Raimundas Lunevicius, Hassan Magdy Abd El Razek, Reza Malekzadeh, Deborah Carvalho Malta, Wagner Marcenes, Desalegn Markos, Yohannes A Melaku, Kidanu G Meles, Walter Mendoza, Desalegn Tadese Mengiste, Tuomo J Meretoja, Ted R Miller, Karzan Abdulmuhsin Mohammad, Alireza Mohammadi, Shafiu Mohammed, Maziar Moradi-Lakeh, Gabriele Nagel, Devina Nand, Quyen Le Nguyen, Sandra Nolte, Felix A Ogbo, Kelechi E Oladimeji, Eyal Oren, Mahesh Pa, Eun-Kee Park, David M Pereira, Dietrich Plass, Mostafa Qorbani, Amir Radfar, Anwar Rafay, Mahfuzar Rahman, Saleem M Rana, Kjetil Søreide, Maheswar Satpathy, Monika Sawhney, Sadaf G Sepanlou, Masood Ali Shaikh, Jun She, Ivy Shiue, Hirbo Roba Shore, Mark G Shrime, Samuel So, Samir Soneji, Vasiliki Stathopoulou, Konstantinos Stroumpoulis, Muawiyyah Babale Sufiyan, Bryan L Sykes, Rafael Tabarés-Seisdedos, Fentaw Tadese, Bemnet Amare Tedla, Gizachew Assefa Tessema, J S Thakur, Bach Xuan Tran, Kingsley Nnanna Ukwaja, Benjamin S Chudi Uzochukwu, Vasiliy Victorovich Vlassov, Elisabete Weiderpass, Mamo Wubshet Terefe, Henock Gebremedhin Yebyo, Hassen Hamid Yimam, Naohiro Yonemoto, Mustafa Z Younis, Chuanhua Yu, Zoubida Zaidi, Maysaa El Sayed Zaki, Zerihun Menlkalew Zenebe, Christopher J L Murray, Mohsen Naghavi
Importance: Cancer is the second leading cause of death worldwide. Current estimates on the burden of cancer are needed for cancer control planning. Objective: To estimate mortality, incidence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs) for 32 cancers in 195 countries and territories from 1990 to 2015. Evidence Review: Cancer mortality was estimated using vital registration system data, cancer registry incidence data (transformed to mortality estimates using separately estimated mortality to incidence [MI] ratios), and verbal autopsy data...
December 3, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27915378/mother-infant-interactions-and-regional-brain-volumes-in-infancy-an-mri-study
#2
Vaheshta Sethna, Inês Pote, Siying Wang, Maria Gudbrandsen, Anna Blasi, Caroline McCusker, Eileen Daly, Emily Perry, Kerrie P H Adams, Maria Kuklisova-Murgasova, Paula Busuulwa, Sarah Lloyd-Fox, Lynne Murray, Mark H Johnson, Steven C R Williams, Declan G M Murphy, Michael C Craig, Grainne M McAlonan
It is generally agreed that the human brain is responsive to environmental influences, and that the male brain may be particularly sensitive to early adversity. However, this is largely based on retrospective studies of older children and adolescents exposed to extreme environments in childhood. Less is understood about how normative variations in parent-child interactions are associated with the development of the infant brain in typical settings. To address this, we used magnetic resonance imaging to investigate the relationship between observational measures of mother-infant interactions and regional brain volumes in a community sample of 3- to 6-month-old infants (N = 39)...
December 3, 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/27899611/the-exac-browser-displaying-reference-data-information-from-over-60-000-exomes
#3
Konrad J Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, Mark J Daly, Daniel G MacArthur
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large population datasets of genetic variation. We demonstrate its use for exome sequence data from 60 706 individuals in the Exome Aggregation Consortium (ExAC). The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27895137/successful-response-to-pegylated-interferon-alpha-in-a-recurrent-paraganglioma
#4
Thibault Bahougne, Alessio Imperiale, Gerlinde Averous, Gerard Chabrier, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Nassim Dali-Youcef, Rossella Libé, Eric Baudin, Catherine Roy, Herve Lang, Laurence Kessler
INTRODUCTION: Early and accurate identification of recurrences in patients with aggressive paraganglioma (PGL) poses significant challenges. Moreover, the most appropriate therapeutic strategy for recurrent PGL remains to be established. RESULTS: We report the case of 52-year-old man with a history of recurrent, sporadic, left retroperitoneal PGL that relapsed twice (at eight and nine years after the first surgical intervention). At the time of the second recurrence, 2-deoxy-2-[fluorine-18]fluoro-D-glucose (FDG) positron emission tomography/computed tomography (PET/CT) demonstrated a pathologically increased tracer uptake in multiple nodular lesions (10-15 mm in size) located close to the remnant of the left renal pedicle and in the left lombar paravertebral region...
November 28, 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27893259/adolescent-conscientiousness-predicts-lower-lifetime-unemployment
#5
Mark Egan, Michael Daly, Liam Delaney, Christopher J Boyce, Alex M Wood
Existing research on Big Five personality and unemployment has relied on personality measures elicited after the respondents had already spent years in the labor market, an experience that could change personality. We clarify the direction of influence by using the British Cohort Study (N = 4,206) to examine whether conscientiousness and other Big Five personality traits at age 16-17 predict unemployment over age 16-42. Our hypothesis that higher conscientiousness in adolescence would predict lower unemployment was supported...
November 28, 2016: Journal of Applied Psychology
https://www.readbyqxmd.com/read/27876817/a-framework-for-the-detection-of-de-novo-mutations-in-family-based-sequencing-data
#6
Laurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, Menachem Fromer, Wigard P Kloosterman, Kaitlin E Samocha, Benjamin M Neale, Mark J Daly, Eric Banks, Mark A DePristo, Paul Iw de Bakker
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from sequence data collected in parent-offspring trios. We compute the joint probability of the data given the genotype likelihoods in the individual family members, the known familial relationships and a prior probability for the mutation rate...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27860058/patient-experiences-of-a-bariatric-group-programme-for-managing-obesity-a-qualitative-interview-study
#7
Mark Tarrant, Sammyh S Khan, Claire V Farrow, Pooja Shah, Mark Daly, Katarina Kos
OBJECTIVES: People with obesity experience a range of physical and psychological ill-health outcomes. This study examined patients' experiences of a group-based programme for the management of morbid obesity delivered within the UK National Health Service. The focus of the study was on the emerging dynamic of the group and patients' perceptions of its impact on health outcomes. DESIGN: A qualitative interview study was conducted and involved patients recruited from a Tier 3 bariatric service in South West England...
November 17, 2016: British Journal of Health Psychology
https://www.readbyqxmd.com/read/27836010/inheritance-of-deleterious-mutations-at-both-brca1-and-brca2-in-an-international-sample-of-32-295-women
#8
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus
BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case"...
November 11, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27796716/association-of-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-modifier-of-breast-cancer-risk-at-locus-11q22-3
#9
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J Blok, Kristie Bobolis, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Maria A Caligo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Miguel De la Hoya, Kim De Leeneer, Orland Diez, Yuan Chun Ding, Riccardo Dolcetti, Susan M Domchek, Cecilia M Dorfling, Diana Eccles, Ros Eeles, Zakaria Einbeigi, Bent Ejlertsen, Christoph Engel, D Gareth Evans, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, William D Foulkes, George Fountzilas, Eitan Friedman, Debra Frost, Pamela Ganschow, Patricia A Ganz, Judy Garber, Simon A Gayther, Anne-Marie Gerdes, Gord Glendon, Andrew K Godwin, David E Goldgar, Mark H Greene, Jacek Gronwald, Eric Hahnen, Ute Hamann, Thomas V O Hansen, Steven Hart, John L Hays, Frans B L Hogervorst, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Walter Just, Katarzyna Kaczmarek, Beth Y Karlan, Carolien M Kets, Judy Kirk, Mieke Kriege, Yael Laitman, Maïté Laurent, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Niklas Loman, Jennifer T Loud, Siranoush Manoukian, Milena Mariani, Sylvie Mazoyer, Lesley McGuffog, Hanne E J Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Jan C Oosterwijk, Ana Osorio, Laura Papi, Sue Kyung Park, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez Segura, Paolo Peterlongo, Catherine M Phelan, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Matti A Rookus, Rita Katharina Schmutzler, Nicolas Sevenet, Payal D Shah, Christian F Singer, Thomas P Slavin, Katie Snape, Johanna Sokolowska, Ida Marie Heeholm Sønderstrup, Melissa Southey, Amanda B Spurdle, Zsofia Stadler, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Yen Tan, Muy-Kheng Tea, Manuel R Teixeira, Alex Teulé, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Nadine Tung, Ans M W van den Ouweland, Rob B van der Luijt, Klaartje van Engelen, Elizabeth J van Rensburg, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Juul T Wijnen, Timothy Rebbeck, Georgia Chenevix-Trench, Kenneth Offit, Fergus J Couch, Silje Nord, Douglas F Easton, Antonis C Antoniou, Jacques Simard
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2...
October 28, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27796292/quantifying-unobserved-protein-coding-variants-in-human-populations-provides-a-roadmap-for-large-scale-sequencing-projects
#10
James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Shamil Sunyaev, Mark Daly, Daniel G MacArthur
As new proposals aim to sequence ever larger collection of humans, it is critical to have a quantitative framework to evaluate the statistical power of these projects. We developed a new algorithm, UnseenEst, and applied it to the exomes of 60,706 individuals to estimate the frequency distribution of all protein-coding variants, including rare variants that have not been observed yet in the current cohorts. Our results quantified the number of new variants that we expect to identify as sequencing cohorts reach hundreds of thousands of individuals...
October 31, 2016: Nature Communications
https://www.readbyqxmd.com/read/27753744/healthy-life-years-lost-and-excess-bed-days-due-to-6-patient-safety-incidents-empirical-evidence-from-english-hospitals
#11
Katharina D Hauck, Shaolin Wang, Charles Vincent, Peter C Smith
BACKGROUND: There is little satisfactory evidence on the harm of safety incidents to patients, in terms of lost potential health and life-years. OBJECTIVE: To estimate the healthy life-years (HLYs) lost due to 6 incidents in English hospitals between the years 2005/2006 and 2009/2010, to compare burden across incidents, and estimate excess bed-days. RESEARCH DESIGN: The study used cross-sectional analysis of the medical records of all inpatients treated in 273 English hospitals...
October 6, 2016: Medical Care
https://www.readbyqxmd.com/read/27720260/dissonant-health-transition-in-the-states-of-mexico-1990-2013-a-systematic-analysis-for-the-global-burden-of-disease-study-2013
#12
Héctor Gómez-Dantés, Nancy Fullman, Héctor Lamadrid-Figueroa, Lucero Cahuana-Hurtado, Blair Darney, Leticia Avila-Burgos, Ricardo Correa-Rotter, Juan A Rivera, Simon Barquera, Eduardo González-Pier, Tania Aburto-Soto, Elga Filipa Amorin de Castro, Tonatiuh Barrientos-Gutiérrez, Ana C Basto-Abreu, Carolina Batis, Guilherme Borges, Ismael Campos-Nonato, Julio C Campuzano-Rincón, Alejandra de Jesús Cantoral-Preciado, Alejandra G Contreras-Manzano, Lucia Cuevas-Nasu, Vanessa V de la Cruz-Gongora, Jose L Diaz-Ortega, María de Lourdes García-García, Armando Garcia-Guerra, Teresita González de Cossío, Luz D González-Castell, Ileana Heredia-Pi, Marta C Hijar-Medina, Alejandra Jauregui, Aida Jimenez-Corona, Nancy Lopez-Olmedo, Carlos Magis-Rodríguez, Catalina Medina-Garcia, Maria E Medina-Mora, Fabiola Mejia-Rodriguez, Julio C Montañez, Pablo Montero, Alejandra Montoya, Grea L Moreno-Banda, Andrea Pedroza-Tobías, Rogelio Pérez-Padilla, Amado D Quezada, Vesta L Richardson-López-Collada, Horacio Riojas-Rodríguez, Maria J Ríos Blancas, Christian Razo-Garcia, Martha P Romero Mendoza, Tania G Sánchez-Pimienta, Luz M Sánchez-Romero, Astrid Schilmann, Edson Servan-Mori, Teresa Shamah-Levy, Martha M Téllez-Rojo, José L Texcalac-Sangrador, Haidong Wang, Theo Vos, Mohammad H Forouzanfar, Mohsen Naghavi, Alan D Lopez, Christopher J L Murray, Rafael Lozano
BACKGROUND: Child and maternal health outcomes have notably improved in Mexico since 1990, whereas rising adult mortality rates defy traditional epidemiological transition models in which decreased death rates occur across all ages. These trends suggest Mexico is experiencing a more complex, dissonant health transition than historically observed. Enduring inequalities between states further emphasise the need for more detailed health assessments over time. The Global Burden of Diseases, Injuries, and Risk Factors Study 2013 (GBD 2013) provides the comprehensive, comparable framework through which such national and subnational analyses can occur...
October 5, 2016: Lancet
https://www.readbyqxmd.com/read/27694993/ultra-rare-disruptive-and-damaging-mutations-influence-educational-attainment-in-the-general-population
#13
Andrea Ganna, Giulio Genovese, Daniel P Howrigan, Andrea Byrnes, Mitja I Kurki, Seyedeh M Zekavat, Christopher W Whelan, Mart Kals, Michel G Nivard, Alex Bloemendal, Jonathan M Bloom, Jacqueline I Goldstein, Timothy Poterba, Cotton Seed, Robert E Handsaker, Pradeep Natarajan, Reedik Mägi, Diane Gage, Elise B Robinson, Andres Metspalu, Veikko Salomaa, Jaana Suvisaari, Shaun M Purcell, Pamela Sklar, Sekar Kathiresan, Mark J Daly, Steven A McCarroll, Patrick F Sullivan, Aarno Palotie, Tõnu Esko, Christina M Hultman, Benjamin M Neale
Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants of YOE in the general population...
December 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27693742/a-new-steroidal-saponin-furotrilliumoside-from-trillium-tschonoskii-inhibits-lipopolysaccharide-induced-inflammation-in-raw264-7-cells-by-targeting-pi3k-akt-mark-and-nrf2-ho-1-pathways
#14
Ting Yan, Xiangyong Yu, Xianduo Sun, Dali Meng, Jing-Ming Jia
A new steroidal saponin, furotrilliumoside (FT) was isolated from the roots and rhizomes of Trillium tschonoskii Maxim. Its structure was elucidated on the basis of 1D- and 2D-NMR spectroscopic data as well as HR-ESI-MS analysis. FT showed superior activity of inhibiting NO production of RAW264.7 cells induced by lipopolysaccharide (LPS) in the preliminary biological screening. In order to develop novel therapeutic drug for acute and chronic inflammatory disorders, the anti-inflammatory activity and underlying mechanism of FT were investigated in LPS-induced RAW264...
September 28, 2016: Fitoterapia
https://www.readbyqxmd.com/read/27681292/corrigendum-meta-analysis-of-375-000-individuals-identifies-38-susceptibility-loci-for-migraine
#15
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte, Tobias Kurth, Andres Ingason, George McMahon, Lannie Ligthart, Gisela M Terwindt, Mikko Kallela, Tobias M Freilinger, Caroline Ran, Scott G Gordon, Anine H Stam, Stacy Steinberg, Guntram Borck, Markku Koiranen, Lydia Quaye, Hieab H H Adams, Terho Lehtimäki, Antti-Pekka Sarin, Juho Wedenoja, David A Hinds, Julie E Buring, Markus Schürks, Paul M Ridker, Maria Gudlaug Hrafnsdottir, Hreinn Stefansson, Susan M Ring, Jouke-Jan Hottenga, Brenda W J H Penninx, Markus Färkkilä, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C Heath, Pamela A F Madden, Nicholas G Martin, Grant W Montgomery, Mitja I Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea E Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Phil H Lee, Cynthia Sandor, Caleb Webber, Zameel Cader, Bertram Muller-Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, Andre G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Lynn Cherkas, Linda M Pedersen, Audun Stubhaug, Christopher S Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Folkmann Hansen, Thomas Werge, Jaakko Kaprio, Arpo J Aromaa, Olli Raitakari, M Arfan Ikram, Tim Spector, Marjo-Riitta Järvelin, Andres Metspalu, Christian Kubisch, David P Strachan, Michel D Ferrari, Andrea C Belin, Martin Dichgans, Maija Wessman, Arn M J M van den Maagdenberg, John-Anker Zwart, Dorret I Boomsma, George Davey Smith, Kari Stefansson, Nicholas Eriksson, Mark J Daly, Benjamin M Neale, Jes Olesen, Daniel I Chasman, Dale R Nyholt, Aarno Palotie
No abstract text is available yet for this article.
September 28, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27671671/land-use-transport-and-population-health-estimating-the-health-benefits-of-compact-cities
#16
Mark Stevenson, Jason Thompson, Thiago Hérick de Sá, Reid Ewing, Dinesh Mohan, Rod McClure, Ian Roberts, Geetam Tiwari, Billie Giles-Corti, Xiaoduan Sun, Mark Wallace, James Woodcock
Using a health impact assessment framework, we estimated the population health effects arising from alternative land-use and transport policy initiatives in six cities. Land-use changes were modelled to reflect a compact city in which land-use density and diversity were increased and distances to public transport were reduced to produce low motorised mobility, namely a modal shift from private motor vehicles to walking, cycling, and public transport. The modelled compact city scenario resulted in health gains for all cities (for diabetes, cardiovascular disease, and respiratory disease) with overall health gains of 420-826 disability-adjusted life-years (DALYs) per 100 000 population...
September 19, 2016: Lancet
https://www.readbyqxmd.com/read/27669728/epicardial-potentials-computed-from-the-body-surface-potential-map-using-inverse-electrocardiography-and-an-individualised-torso-model-improve-sensitivity-for-acute-myocardial-infarction-diagnosis
#17
Michael J Daly, Dewar D Finlay, Daniel Guldenring, Raymond R Bond, Aaron J McCann, Peter J Scott, Jennifer A Adgey, Mark T Harbinson
INTRODUCTION: Epicardial potentials (EPs) derived from the body surface potential map (BSPM) improve acute myocardial infarction (AMI) diagnosis. In this study, we compared EPs derived from the 80-lead BSPM using a standard thoracic volume conductor model (TVCM) with those derived using a patient-specific torso model (PSTM) based on body mass index (BMI). METHODS: Consecutive patients presenting to both the emergency department and pre-hospital coronary care unit between August 2009 and August 2011 with acute ischaemic-type chest pain at rest were enrolled...
September 26, 2016: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/27668286/characterization-of-candidate-genes-in-inflammatory-bowel-disease-associated-risk-loci
#18
Joanna M Peloquin, Gautam Goel, Lingjia Kong, Hailiang Huang, Talin Haritunians, R Balfour Sartor, Mark J Daly, Rodney D Newberry, Dermot P McGovern, Vijay Yajnik, Sergio A Lira, Ramnik J Xavier
GWAS have linked SNPs to risk of inflammatory bowel disease (IBD), but a systematic characterization of disease-associated genes has been lacking. Prior studies utilized microarrays that did not capture many genes encoded within risk loci or defined expression quantitative trait loci (eQTLs) using peripheral blood, which is not the target tissue in IBD. To address these gaps, we sought to characterize the expression of IBD-associated risk genes in disease-relevant tissues and in the setting of active IBD. Terminal ileal (TI) and colonic mucosal tissues were obtained from patients with Crohn's disease or ulcerative colitis and from healthy controls...
August 18, 2016: JCI Insight
https://www.readbyqxmd.com/read/27631547/what-is-the-optimal-range-of-medial-pocket-dissection-in-breast-augmentation-an-anatomical-study-of-chinese-women
#19
Shangshan Li, Chunjun Liu, Dali Mu, Minqiang Xin, Su Fu, Lin Chen, Jie Luan
BACKGROUND: The range of the medial dissection forbidden zone, defined as the no-touch zone in this study, is of great importance in breast augmentation. Currently, 30 mm of the no-touch zone is marked and the pocket dissection does not pass medial to this zone, which lacks anatomical evidence. This study aimed to determine the optimal range of the no-touch zone in breast augmentation by precisely locating relevant anatomical structures. METHODS: Preoperative multidetector-row CT angiography (MDCTA) was performed in 36 Chinese female patients who were to receive breast reconstruction...
December 2016: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/27626380/high-throughput-discovery-of-novel-developmental-phenotypes
#20
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, 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
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes...
September 14, 2016: Nature
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