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https://www.readbyqxmd.com/read/30239611/white-matter-diffusion-alterations-precede-symptom-onset-in-autosomal-dominant-alzheimer-s-disease
#1
Miguel Ángel Araque Caballero, Marc Suárez-Calvet, Marco Duering, Nicolai Franzmeier, Tammie Benzinger, Anne M Fagan, Randall J Bateman, Clifford R Jack, Johannes Levin, Martin Dichgans, Mathias Jucker, Celeste Karch, Colin L Masters, John C Morris, Michael Weiner, Martin Rossor, Nick C Fox, Jae-Hong Lee, Stephen Salloway, Adrian Danek, Alison Goate, Igor Yakushev, Jason Hassenstab, Peter R Schofield, Christian Haass, Michael Ewers
White matter alterations are present in the majority of patients with Alzheimer's disease type dementia. However, the spatiotemporal pattern of white matter changes preceding dementia symptoms in Alzheimer's disease remains unclear, largely due to the inherent diagnostic uncertainty in the preclinical phase and increased risk of confounding age-related vascular disease and stroke in late-onset Alzheimer's disease. In early-onset autosomal-dominantly inherited Alzheimer's disease, participants are destined to develop dementia, which provides the opportunity to assess brain changes years before the onset of symptoms, and in the absence of ageing-related vascular disease...
September 19, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30237575/factors-influencing-ncgenes-research-participants-requests-for-non-medically-actionable-secondary-findings
#2
Myra I Roche, Ida Griesemer, Cynthia M Khan, Elizabeth Moore, Feng-Chang Lin, Julianne M O'Daniel, Ann Katherine M Foreman, Kristy Lee, Bradford C Powell, Jonathan S Berg, James P Evans, Gail E Henderson, Christine Rini
PURPOSE: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals' intentions to learn this information, but few report the decisions they made and why. METHODS: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non-medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret...
September 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30224681/development-of-a-novel-hsp90-inhibitor-nct-50-as-a-potential-anticancer-agent-for-the-treatment-of-non-small-cell-lung-cancer
#3
Seung Yeob Hyun, Huong Thuy Le, Cong-Truong Nguyen, Young-Sik Yong, Hye-Jin Boo, Ho Jin Lee, Ji-Sun Lee, Hye-Young Min, Jihyae Ann, Jie Chen, Hyun-Ju Park, Jeewoo Lee, Ho-Young Lee
Despite the development of advanced therapeutic regimens such as molecular targeted therapy and immunotherapy, the 5-year survival of patients with lung cancer is still less than 20%, suggesting the need to develop additional treatment strategies. The molecular chaperone heat shock protein 90 (Hsp90) plays important roles in the maturation of oncogenic proteins and thus has been considered as an anticancer therapeutic target. Here we show the efficacy and biological mechanism of a Hsp90 inhibitor NCT-50, a novobiocin-deguelin analog hybridizing the pharmacophores of these known Hsp90 inhibitors...
September 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30215381/treatment-correlates-of-successful-outcomes-in-pulmonary-multidrug-resistant-tuberculosis-an-individual-patient-data-meta-analysis
#4
Nafees Ahmad, Shama D Ahuja, Onno W Akkerman, Jan-Willem C Alffenaar, Laura F Anderson, Parvaneh Baghaei, Didi Bang, Pennan M Barry, Mayara L Bastos, Digamber Behera, Andrea Benedetti, Gregory P Bisson, Martin J Boeree, Maryline Bonnet, Sarah K Brode, James C M Brust, Ying Cai, Eric Caumes, J Peter Cegielski, Rosella Centis, Pei-Chun Chan, Edward D Chan, Kwok-Chiu Chang, Macarthur Charles, Andra Cirule, Margareth Pretti Dalcolmo, Lia D'Ambrosio, Gerard de Vries, Keertan Dheda, Aliasgar Esmail, Jennifer Flood, Gregory J Fox, Mathilde Fréchet-Jachym, Geisa Fregona, Regina Gayoso, Medea Gegia, Maria Tarcela Gler, Sue Gu, Lorenzo Guglielmetti, Timothy H Holtz, Jennifer Hughes, Petros Isaakidis, Leah Jarlsberg, Russell R Kempker, Salmaan Keshavjee, Faiz Ahmad Khan, Maia Kipiani, Serena P Koenig, Won-Jung Koh, Afranio Kritski, Liga Kuksa, Charlotte L Kvasnovsky, Nakwon Kwak, Zhiyi Lan, Christoph Lange, Rafael Laniado-Laborín, Myungsun Lee, Vaira Leimane, Chi-Chiu Leung, Eric Chung-Ching Leung, Pei Zhi Li, Phil Lowenthal, Ethel L Maciel, Suzanne M Marks, Sundari Mase, Lawrence Mbuagbaw, Giovanni B Migliori, Vladimir Milanov, Ann C Miller, Carole D Mitnick, Chawangwa Modongo, Erika Mohr, Ignacio Monedero, Payam Nahid, Norbert Ndjeka, Max R O'Donnell, Nesri Padayatchi, Domingo Palmero, Jean William Pape, Laura J Podewils, Ian Reynolds, Vija Riekstina, Jérôme Robert, Maria Rodriguez, Barbara Seaworth, Kwonjune J Seung, Kathryn Schnippel, Tae Sun Shim, Rupak Singla, Sarah E Smith, Giovanni Sotgiu, Ganzaya Sukhbaatar, Payam Tabarsi, Simon Tiberi, Anete Trajman, Lisa Trieu, Zarir F Udwadia, Tjip S van der Werf, Nicolas Veziris, Piret Viiklepp, Stalz Charles Vilbrun, Kathleen Walsh, Janice Westenhouse, Wing-Wai Yew, Jae-Joon Yim, Nicola M Zetola, Matteo Zignol, Dick Menzies
BACKGROUND: Treatment outcomes for multidrug-resistant tuberculosis remain poor. We aimed to estimate the association of treatment success and death with the use of individual drugs, and the optimal number and duration of treatment with those drugs in patients with multidrug-resistant tuberculosis. METHODS: In this individual patient data meta-analysis, we searched MEDLINE, Embase, and the Cochrane Library to identify potentially eligible observational and experimental studies published between Jan 1, 2009, and April 30, 2016...
September 8, 2018: Lancet
https://www.readbyqxmd.com/read/30194818/refining-the-phenotype-associated-with-gnb1-mutations-clinical-data-on-18-newly-identified-patients-and-review-of-the-literature
#5
Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G Bilancia, Keri Ramsey, Nicole G Griffin, Louise Bier, Megan T Cho, Monica Rosello, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte Haug, Erin L Heinzen, Tristan T Sands, Vinodh Narayanan, Michelle Primiano, Vimla S Aggarwal, Francisca Millan, Shannon G Sattler-Holtrop, Alfonso Caro-Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y Kroes, Stephanie Sacharow, Nick Stong, Pablo Lapunzina, Michael C Schneider, Nancy J Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monica Weiss, Samantha Doyle, Alejandro Iglesias, Francisco Martinez, Fiona Mckenzie, Carmen Orellana, Koen L I van Gassen, Maria Palomares, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel-Vanagaite, Maria Hafström, Gunnar Houge, David B Goldstein, Kwame Anyane-Yeboa
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non-ambulatory and nonverbal. The most observed substitution affects the p...
September 8, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30185882/genetic-determinants-of-telomere-length-in-african-american-youth
#6
Andrew M Zeiger, Marquitta J White, Celeste Eng, Sam S Oh, Jonathan Witonsky, Pagé C Goddard, Maria G Contreras, Jennifer R Elhawary, Donglei Hu, Angel C Y Mak, Eunice Y Lee, Kevin L Keys, Lesly-Anne Samedy, Oona Risse-Adams, Joaquín Magaña, Scott Huntsman, Sandra Salazar, Adam Davis, Kelley Meade, Emerita Brigino-Buenaventura, Michael A LeNoir, Harold J Farber, Kirsten Bibbins-Domingo, Luisa N Borrell, Esteban G Burchard
Telomere length (TL) is associated with numerous disease states and is affected by genetic and environmental factors. However, TL has been mostly studied in adult populations of European or Asian ancestry. These studies have identified 34 TL-associated genetic variants recently used as genetic proxies for TL. The generalizability of these associations to pediatric populations and racially diverse populations, specifically of African ancestry, remains unclear. Furthermore, six novel variants associated with TL in a population of European children have been identified but not validated...
September 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30180168/the-human-lymph-node-microenvironment-unilaterally-regulates-t-cell-activation-and-differentiation
#7
Konstantin Knoblich, Sara Cruz Migoni, Susan M Siew, Elizabeth Jinks, Baksho Kaul, Hannah C Jeffery, Alfie T Baker, Muath Suliman, Katerina Vrzalikova, Hisham Mehenna, Paul G Murray, Francesca Barone, Ye H Oo, Philip N Newsome, Gideon Hirschfield, Deirdre Kelly, Steven P Lee, Biju Parekkadan, Shannon J Turley, Anne L Fletcher
The microenvironment of lymphoid organs can aid healthy immune function through provision of both structural and molecular support. In mice, fibroblastic reticular cells (FRCs) create an essential T-cell support structure within lymph nodes, while human FRCs are largely unstudied. Here, we show that FRCs create a regulatory checkpoint in human peripheral T-cell activation through 4 mechanisms simultaneously utilised. Human tonsil and lymph node-derived FRCs constrained the proliferation of both naïve and pre-activated T cells, skewing their differentiation away from a central memory T-cell phenotype...
September 2018: PLoS Biology
https://www.readbyqxmd.com/read/30177781/body-mass-index-diabetes-and-intrahepatic-cholangiocarcinoma-risk-the-liver-cancer-pooling-project-and-meta-analysis
#8
Jessica L Petrick, Jake E Thistle, Anne Zeleniuch-Jacquotte, Xuehong Zhang, Jean Wactawski-Wende, Alison L Van Dyke, Meir J Stampfer, Rashmi Sinha, Howard D Sesso, Catherine Schairer, Lynn Rosenberg, Thomas E Rohan, Kim Robien, Mark P Purdue, Jenny N Poynter, Julie R Palmer, Christina C Newton, Martha S Linet, Linda M Liao, I-Min Lee, Jill Koshiol, Cari M Kitahara, Jonathan N Hofmann, Barry I Graubard, Edward Giovannucci, J Michael Gaziano, Susan M Gapstur, Neal D Freedman, Dawn Q Chong, Andrew T Chan, Julie E Buring, Laura E Beane Freeman, Peter T Campbell, Katherine A McGlynn
OBJECTIVE: Obesity and diabetes are associated with an increased liver cancer risk. However, most studies have examined all primary liver cancers or hepatocellular carcinoma, with few studies evaluating intrahepatic cholangiocarcinoma (ICC), the second most common type of liver cancer. Thus, we examined the association between obesity and diabetes and ICC risk in a pooled analysis and conducted a systematic review/meta-analysis of the literature. DESIGN: For the pooled analysis, we utilized the Liver Cancer Pooling Project, a consortium of 13 US-based, prospective cohort studies with data from 1,541,143 individuals (ICC cases n = 414)...
September 3, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/30177038/activated-protein-c-as-disease-modifying-therapy-in-antenatal-preeclampsia-an-open-label-single-arm-safety-and-efficacy-trial
#9
Peter von Dadelszen, Laura A Magee, Samantha J Benton, Yuxiang Hu, J Mark Ansermino, Bruce Carleton, Cedric Carter, M Joanne Douglas, Patricia A Janssen, Shoo K Lee, Peter C K Leung, Jing Li, Ying MacNab, Beth A Payne, Gang Peng, Marc Rodger, M Amanda Skoll, Anne Synnes, Keith R Walley, James A Russell
OBJECTIVES: Preeclampsia is characterized by maternal systemic inflammation and coagulation activation, akin to the sepsis syndrome. Recombinant human activated protein C (rhAPC; drotrecogin alfa [activated]) may modify disease progression to safely prolong pregnancies and improve perinatal outcomes. Both maternal and perinatal risks are highest remote from term. STUDY DESIGN: Open-label, single arm safety and efficacy trial of rhAPC in consenting pregnant women with severe early-onset preeclampsia...
July 2018: Pregnancy Hypertension
https://www.readbyqxmd.com/read/30147447/biotime-a-database-of-biodiversity-time-series-for-the-anthropocene
#10
Maria Dornelas, Laura H Antão, Faye Moyes, Amanda E Bates, Anne E Magurran, Dušan Adam, Asem A Akhmetzhanova, Ward Appeltans, José Manuel Arcos, Haley Arnold, Narayanan Ayyappan, Gal Badihi, Andrew H Baird, Miguel Barbosa, Tiago Egydio Barreto, Claus Bässler, Alecia Bellgrove, Jonathan Belmaker, Lisandro Benedetti-Cecchi, Brian J Bett, Anne D Bjorkman, Magdalena Błażewicz, Shane A Blowes, Christopher P Bloch, Timothy C Bonebrake, Susan Boyd, Matt Bradford, Andrew J Brooks, James H Brown, Helge Bruelheide, Phaedra Budy, Fernando Carvalho, Edward Castañeda-Moya, Chaolun Allen Chen, John F Chamblee, Tory J Chase, Laura Siegwart Collier, Sharon K Collinge, Richard Condit, Elisabeth J Cooper, J Hans C Cornelissen, Unai Cotano, Shannan Kyle Crow, Gabriella Damasceno, Claire H Davies, Robert A Davis, Frank P Day, Steven Degraer, Tim S Doherty, Timothy E Dunn, Giselda Durigan, J Emmett Duffy, Dor Edelist, Graham J Edgar, Robin Elahi, Sarah C Elmendorf, Anders Enemar, S K Morgan Ernest, Rubén Escribano, Marc Estiarte, Brian S Evans, Tung-Yung Fan, Fabiano Turini Farah, Luiz Loureiro Fernandes, Fábio Z Farneda, Alessandra Fidelis, Robert Fitt, Anna Maria Fosaa, Geraldo Antonio Daher Correa Franco, Grace E Frank, William R Fraser, Hernando García, Roberto Cazzolla Gatti, Or Givan, Elizabeth Gorgone-Barbosa, William A Gould, Corinna Gries, Gary D Grossman, Julio R Gutierréz, Stephen Hale, Mark E Harmon, John Harte, Gary Haskins, Donald L Henshaw, Luise Hermanutz, Pamela Hidalgo, Pedro Higuchi, Andrew Hoey, Gert Van Hoey, Annika Hofgaard, Kristen Holeck, Robert D Hollister, Richard Holmes, Mia Hoogenboom, Chih-Hao Hsieh, Stephen P Hubbell, Falk Huettmann, Christine L Huffard, Allen H Hurlbert, Natália Macedo Ivanauskas, David Janík, Ute Jandt, Anna Jażdżewska, Tore Johannessen, Jill Johnstone, Julia Jones, Faith A M Jones, Jungwon Kang, Tasrif Kartawijaya, Erin C Keeley, Douglas A Kelt, Rebecca Kinnear, Kari Klanderud, Halvor Knutsen, Christopher C Koenig, Alessandra R Kortz, Kamil Král, Linda A Kuhnz, Chao-Yang Kuo, David J Kushner, Claire Laguionie-Marchais, Lesley T Lancaster, Cheol Min Lee, Jonathan S Lefcheck, Esther Lévesque, David Lightfoot, Francisco Lloret, John D Lloyd, Adrià López-Baucells, Maite Louzao, Joshua S Madin, Borgþór Magnússon, Shahar Malamud, Iain Matthews, Kent P McFarland, Brian McGill, Diane McKnight, William O McLarney, Jason Meador, Peter L Meserve, Daniel J Metcalfe, Christoph F J Meyer, Anders Michelsen, Nataliya Milchakova, Tom Moens, Even Moland, Jon Moore, Carolina Mathias Moreira, Jörg Müller, Grace Murphy, Isla H Myers-Smith, Randall W Myster, Andrew Naumov, Francis Neat, James A Nelson, Michael Paul Nelson, Stephen F Newton, Natalia Norden, Jeffrey C Oliver, Esben M Olsen, Vladimir G Onipchenko, Krzysztof Pabis, Robert J Pabst, Alain Paquette, Sinta Pardede, David M Paterson, Raphaël Pélissier, Josep Peñuelas, Alejandro Pérez-Matus, Oscar Pizarro, Francesco Pomati, Eric Post, Herbert H T Prins, John C Priscu, Pieter Provoost, Kathleen L Prudic, Erkki Pulliainen, B R Ramesh, Olivia Mendivil Ramos, Andrew Rassweiler, Jose Eduardo Rebelo, Daniel C Reed, Peter B Reich, Suzanne M Remillard, Anthony J Richardson, J Paul Richardson, Itai van Rijn, Ricardo Rocha, Victor H Rivera-Monroy, Christian Rixen, Kevin P Robinson, Ricardo Ribeiro Rodrigues, Denise de Cerqueira Rossa-Feres, Lars Rudstam, Henry Ruhl, Catalina S Ruz, Erica M Sampaio, Nancy Rybicki, Andrew Rypel, Sofia Sal, Beatriz Salgado, Flavio A M Santos, Ana Paula Savassi-Coutinho, Sara Scanga, Jochen Schmidt, Robert Schooley, Fakhrizal Setiawan, Kwang-Tsao Shao, Gaius R Shaver, Sally Sherman, Thomas W Sherry, Jacek Siciński, Caya Sievers, Ana Carolina da Silva, Fernando Rodrigues da Silva, Fabio L Silveira, Jasper Slingsby, Tracey Smart, Sara J Snell, Nadejda A Soudzilovskaia, Gabriel B G Souza, Flaviana Maluf Souza, Vinícius Castro Souza, Christopher D Stallings, Rowan Stanforth, Emily H Stanley, José Mauro Sterza, Maarten Stevens, Rick Stuart-Smith, Yzel Rondon Suarez, Sarah Supp, Jorge Yoshio Tamashiro, Sukmaraharja Tarigan, Gary P Thiede, Simon Thorn, Anne Tolvanen, Maria Teresa Zugliani Toniato, Ørjan Totland, Robert R Twilley, Gediminas Vaitkus, Nelson Valdivia, Martha Isabel Vallejo, Thomas J Valone, Carl Van Colen, Jan Vanaverbeke, Fabio Venturoli, Hans M Verheye, Marcelo Vianna, Rui P Vieira, Tomáš Vrška, Con Quang Vu, Lien Van Vu, Robert B Waide, Conor Waldock, Dave Watts, Sara Webb, Tomasz Wesołowski, Ethan P White, Claire E Widdicombe, Dustin Wilgers, Richard Williams, Stefan B Williams, Mark Williamson, Michael R Willig, Trevor J Willis, Sonja Wipf, Kerry D Woods, Eric J Woehler, Kyle Zawada, Michael L Zettler, Thomas Hickler
Motivation: The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included: The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive...
July 2018: Global Ecology and Biogeography: a Journal of Macroecology
https://www.readbyqxmd.com/read/30144560/metabolic-engineering-of-corynebacterium-glutamicum-for-the-production-of-glutaric-acid-a-c5-dicarboxylic-acid-platform-chemical
#11
Hee Taek Kim, Tae Uk Khang, Kei-Anne Baritugo, Sung Min Hyun, Kyoung Hee Kang, Sol Hee Jung, Bong Keun Song, Kyungmoon Park, Min-Kyu Oh, Gi Bae Kim, Hyun Uk Kim, Sang Yup Lee, Si Jae Park, Jeong Chan Joo
Corynebacterium glutamicum was metabolically engineered for the production of glutaric acid, a C5 dicarboxylic acid that can be used as platform building block chemicals including nylon and plasticizer. C. glutamicum gabT and gabD genes and Pseudomonas putida davT and davD genes encoding 5-aminovalerate transaminase and glutarate semialdehyde dehydrogenase, respectively, were examined in C. glutamicum for the construction of a glutaric acid bio-synthesis pathway along with P. putida davB and davA genes encoding lysine 2-monooxygenase and delta-aminovaleramidase, respectively...
August 22, 2018: Metabolic Engineering
https://www.readbyqxmd.com/read/30139491/improving-the-use-of-primary-prevention-implantable-cardioverter-defibrillators-therapy-with-validated-patient-centric-risk-estimates
#12
Wayne C Levy, Anne S Hellkamp, Daniel B Mark, Jeanne E Poole, Ramin Shadman, Todd F Dardas, Jill Anderson, George Johnson, Daniel P Fishbein, Kerry L Lee, David T Linker, Gust H Bardy
OBJECTIVES: The authors previously developed the Seattle Proportional Risk Model (SPRM) in systolic heart failure patients without implantable cardioverter-defibrillators (ICDs)to predict the proportion of deaths that were sudden. They subsequently validated the SPRM in 2 observational ICD data sets. The objectives in the present study were to determine whether this validated model could improve identification of clinically important variations in the expected magnitude of ICD survival benefit by using a pivotal randomized trial of primary prevention ICD therapy...
August 2018: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/30134598/rs495139-in-the-tyms-enosf1-region-and-risk-of-ovarian-carcinoma-of-mucinous-histology
#13
Linda E Kelemen, Madalene Earp, Brooke L Fridley, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein, Diether Lambrechts, Sandrina Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Mary Anne Rossing, Jennifer A Doherty, Jenny Chang-Claude, Sabine Behrens, Kirsten B Moysich, Rikki Cannioto, Shashikant Lele, Kunle Odunsi, Marc T Goodman, Yurii B Shvetsov, Pamela J Thompson, Lynne R Wilkens, Thilo Dörk, Natalia Antonenkova, Natalia Bogdanova, Peter Hillemanns, Ingo B Runnebaum, Andreas du Bois, Philipp Harter, Florian Heitz, Ira Schwaab, Ralf Butzow, Liisa M Pelttari, Heli Nevanlinna, Francesmary Modugno, Robert P Edwards, Joseph L Kelley, Roberta B Ness, Beth Y Karlan, Jenny Lester, Sandra Orsulic, Christine Walsh, Susanne K Kjaer, Allan Jensen, Julie M Cunningham, Robert A Vierkant, Graham G Giles, Fiona Bruinsma, Melissa C Southey, Michelle A T Hildebrandt, Dong Liang, Karen Lu, Xifeng Wu, Thomas A Sellers, Douglas A Levine, Joellen M Schildkraut, Edwin S Iversen, Kathryn L Terry, Daniel W Cramer, Shelley S Tworoger, Elizabeth M Poole, Elisa V Bandera, Sara H Olson, Irene Orlow, Liv Cecilie Vestrheim Thomsen, Line Bjorge, Camilla Krakstad, Ingvild L Tangen, Lambertus A Kiemeney, Katja K H Aben, Leon F A G Massuger, Anne M van Altena, Tanja Pejovic, Yukie Bean, Melissa Kellar, Linda S Cook, Nhu D Le, Angela Brooks-Wilson, Jacek Gronwald, Cezary Cybulski, Anna Jakubowska, Jan Lubiński, Nicolas Wentzensen, Louise A Brinton, Jolanta Lissowska, Estrid Hogdall, Svend Aage Engelholm, Claus Hogdall, Lene Lundvall, Lotte Nedergaard, Paul D P Pharoah, Ed Dicks, Honglin Song, Jonathan P Tyrer, Iain McNeish, Nadeem Siddiqui, Karen Carty, Rosalind Glasspool, James Paul, Ian G Campbell, Diana Eccles, Alice S Whittemore, Valerie McGuire, Joseph H Rothstein, Weiva Sieh, Steven A Narod, Catherine M Phelan, John R McLaughlin, Harvey A Risch, Hoda Anton-Culver, Argyrios Ziogas, Usha Menon, Simon A Gayther, Aleksandra Gentry-Maharaj, Susan J Ramus, Anna H Wu, Celeste Leigh Pearce, Alice W Lee, Malcolm C Pike, Jolanta Kupryjanczyk, Agnieszka Podgorska, Joanna Plisiecka-Halasa, Wlodzimierz Sawicki, Ellen L Goode, Andrew Berchuck
Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3' gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report...
August 21, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30133930/a-transdiagnostic-dimensional-approach-towards-a-neuropsychological-assessment-for-addiction-an-international-delphi-consensus-study
#14
Murat Yücel, Erin Oldenhof, Serge Ahmed, David Belin, Joel Billieux, Henrietta Bowden-Jones, Adrian Carter, Samuel R Chamberlain, Luke Clark, Jason Connor, Mark Daglish, Geert Dom, Pinhas Dannon, Theodora Duka, Maria Jose Fernandez-Serrano, Matt Field, Ingmar Franken, Rita Z Goldstein, Raul Gonzalez, Anneke Goudriaan, Jon E Grant, Matthew J Gullo, Rob Hester, David Hodgins, Bernard Le Foll, Rico S C Lee, Anne Lingford-Hughes, Valentina Lorenzetti, Scott J Moeller, Marcus R Munafò, Brian Odlaug, Marc N Potenza, Rebecca Segrave, Zsuzsika Sjoerds, Nadia Solowij, Wim van den Brink, Ruth J Van Holst, Valerie Voon, Reinout Wiers, Leonardo F Fontenelle, Antonio Verdejo-Garcia
BACKGROUND: The U.S. National Institutes of Mental Health Research Domain Criteria (RDoC) seek to stimulate research into biologically validated neuropsychological dimensions across mental illness symptoms and diagnoses. The RDoC framework comprises 39 functional constructs designed to be revised and refined, with the overall goal to improve diagnostic validity and treatments. This study aimed to reach a consensus among experts in the addiction field on the 'primary' RDoC constructs most relevant to substance and behavioural addictions...
August 22, 2018: Addiction
https://www.readbyqxmd.com/read/30124884/genetic-and-transcriptomic-variation-linked-to-neutrophil-granulocyte-macrophage-colony-stimulating-factor-signaling-in-pediatric-crohn-s-disease
#15
Lee A Denson, Ingrid Jurickova, Rebekah Karns, Kelly A Shaw, David J Cutler, David Okou, C Alexander Valencia, Anne Dodd, Kajari Mondal, Bruce J Aronow, Yael Haberman, Aaron Linn, Adam Price, Ramona Bezold, Kathleen Lake, Kimberly Jackson, Thomas D Walters, Anne Griffiths, Robert N Baldassano, Joshua D Noe, Jeffrey S Hyams, Wallace V Crandall, Barbara S Kirschner, Melvin B Heyman, Scott Snapper, Stephen L Guthery, Marla C Dubinsky, Neal S Leleiko, Anthony R Otley, Ramnik J Xavier, Christine Stevens, Mark J Daly, Michael E Zwick, Subra Kugathasan
Background: Granulocyte-macrophage colony-stimulating factor auto-antibodies (GMAbs) suppress neutrophil-extrinsic GM-CSF signaling and increase risk for stricturing behavior in Crohn's disease (CD). We aimed to define clinical, genomic, and functional associations with neutrophil-intrinsic GM-CSF signaling. Methods: Missense mutations in CSF2RA, CSF2RB, JAK2, STAT5A, and STAT5B were identified using whole-exome sequencing in 543 pediatric inflammatory bowel disease (IBD) patients...
August 13, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/30108311/whole-exome-sequencing-study-identifies-novel-rare-and-common-alzheimer-s-associated-variants-involved-in-immune-response-and-transcriptional-regulation
#16
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, Yuning Chen, Kara L Hamilton-Nelson, William S Bush, William J Salerno, Daniel Lancour, Yiyi Ma, Alan E Renton, Edoardo Marcora, John J Farrell, Yi Zhao, Liming Qu, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W Beecham, Jennifer E Below, Dominique Campion, Camille Charbonnier, Jaeyoon Chung, Paul K Crane, Carlos Cruchaga, L Adrienne Cupples, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Lucinda Fulton, Stacey B Gabriel, Emmanuelle Genin, Richard A Gibbs, Alison Goate, Benjamin Grenier-Boley, Namrata Gupta, Jonathan L Haines, Aki S Havulinna, Seppo Helisalmi, Mikko Hiltunen, Daniel P Howrigan, M Arfan Ikram, Jaakko Kaprio, Jan Konrad, Amanda Kuzma, Eric S Lander, Mark Lathrop, Terho Lehtimäki, Honghuang Lin, Kari Mattila, Richard Mayeux, Donna M Muzny, Waleed Nasser, Benjamin Neale, Kwangsik Nho, Gaël Nicolas, Devanshi Patel, Margaret A Pericak-Vance, Markus Perola, Bruce M Psaty, Olivier Quenez, Farid Rajabli, Richard Redon, Christiane Reitz, Anne M Remes, Veikko Salomaa, Chloe Sarnowski, Helena Schmidt, Michael Schmidt, Reinhold Schmidt, Hilkka Soininen, Timothy A Thornton, Giuseppe Tosto, Christophe Tzourio, Sven J van der Lee, Cornelia M van Duijn, Badri Vardarajan, Weixin Wang, Ellen Wijsman, Richard K Wilson, Daniela Witten, Kim C Worley, Xiaoling Zhang, Celine Bellenguez, Jean-Charles Lambert, Mitja I Kurki, Aarno Palotie, Mark Daly, Eric Boerwinkle, Kathryn L Lunetta, Anita L Destefano, Josée Dupuis, Eden R Martin, Gerard D Schellenberg, Sudha Seshadri, Adam C Naj, Myriam Fornage, Lindsay A Farrer
The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants...
August 14, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30107861/levels-and-correlates-of-nutritional-status-of-women-of-childbearing-age-in-rural-bangladesh
#17
Rasheda Khanam, Anne Shee Cc Lee, Malathi Ram, M A Quaiyum, Nazma Begum, Allysha Choudhury, Parul Christian, Luke C Mullany, Abdullah H Baqui
OBJECTIVE: The present study examined the prevalence of and risk factors for malnutrition in a population-based cohort of women of childbearing age in rural Bangladesh. DESIGN: A cross-sectional study that collected pre-pregnancy weight, height, and data on selected risk factors for nutritional status of women. SETTING: The study was conducted in Sylhet District of Bangladesh. SUBJECTS: Study subjects included 13 230 non-pregnant women of childbearing age...
August 15, 2018: Public Health Nutrition
https://www.readbyqxmd.com/read/30062043/personalized-behavior-change-program-for-glaucoma-patients-with-poor-adherence-a-pilot-interventional-cohort-study-with-a-pre-post-design
#18
Paula Anne Newman-Casey, Leslie M Niziol, Chamisa K Mackenzie, Kenneth Resnicow, Paul P Lee, David C Musch, Michele Heisler
Background: About half of people with glaucoma do not adhere to their recommended medications. Interventions for other chronic conditions have successfully utilized reminder systems and motivational interviewing (MI)-based counseling. This study was designed to pilot a personalized intervention that leverages these strategies to assess their impact on medication adherence in glaucoma patients. Methods: Glaucoma patients taking ≥ 1 medication will be pre-screened by telephone survey for adherence to their medication(s)...
2018: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/30057029/de-novo-variants-in-the-f-box-protein-fbxo11-in-20-individuals-with-a-variable-neurodevelopmental-disorder
#19
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M A Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B Santani, Ajoy Sarkar, Ingrid E Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D Symonds, Elaine H Zackai, André Reis, Heinrich Sticht, Christiane Zweier
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies...
August 2, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30055682/a-summative-evaluation-of-productivity-and-accomplishments-of-robert-wood-johnson-foundation-nurse-faculty-scholars-program-participants
#20
Gordon Lee Gillespie, C Ann Gakumo, Diane Von Ah, Daniel J Pesut, Rosa M Gonzalez-Guarda, Tami Thomas
From 2008 to 2017, the Robert Wood Johnson Foundation Nurse Faculty Scholars Program inspired, developed, and supported cohorts of next generation national leaders in academic nursing through career development awards. With support from mentors, scholars in the program created individual development plans focused on scholarship, teaching, service, and leadership. The curriculum of the scholar development program combined goals and objectives related to leadership development, enhancement of nursing education skills, and focused programs of research and scholarship...
July 2018: Journal of Professional Nursing: Official Journal of the American Association of Colleges of Nursing
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