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https://www.readbyqxmd.com/read/29915704/population-diversity-and-relatedness-in-sugarbirds-promeropidae-promerops-spp
#1
Evan S Haworth, Michael J Cunningham, Kathleen M Calf Tjorve
Sugarbirds are a family of two socially-monogamous passerine species endemic to southern Africa. Cape and Gurney's Sugarbird ( Promerops cafer and P. gurneyi ) differ in abundance, dispersion across their range and in the degree of sexual dimorphism in tail length, factors that affect breeding systems and potentially genetic diversity. According to recent data, P. gurneyi are in decline and revision of the species' IUCN conservation status to a threatened category may be warranted. It is therefore necessary to understand genetic diversity and risk of inbreeding in this species...
2018: PeerJ
https://www.readbyqxmd.com/read/29915664/approaches-to-manage-affordability-of-high-budget-impact-medicines-in-key-eu-countries
#2
REVIEW
Mathias Flume, Marc Bardou, Stefano Capri, Oriol Sola-Morales, David Cunningham, Lars-Ake Levin, Maarten J Postma, Nicolas Touchot
Background:  The launch of hepatitis C (HCV) drugs such as sofosbuvir or ledipasvir has fostered the question of affordability of novel high budget impact therapies even in countries with high domestic product. European countries have developed a variety of mechanisms to improve affordability of such therapies, including 'affordability thresholds', price volume agreements or caps on individual product sales, and special budgets for innovative drugs. While some of these mechanisms may help limit budget impact, there are still significant progresses to be made in the definition and implementation of approaches to ensure affordability, especially in health systems where the growth potential in drug spending and/or in the patient contribution to health insurance are limited...
2018: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/29915430/a-transcriptome-wide-association-study-of-229-000-women-identifies-new-candidate-susceptibility-genes-for-breast-cancer
#3
Lang Wu, Wei Shi, Jirong Long, Xingyi Guo, Kyriaki Michailidou, Jonathan Beesley, Manjeet K Bolla, Xiao-Ou Shu, Yingchang Lu, Qiuyin Cai, Fares Al-Ejeh, Esdy Rozali, Qin Wang, Joe Dennis, Bingshan Li, Chenjie Zeng, Helian Feng, Alexander Gusev, Richard T Barfield, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Myrto Barrdahl, Caroline Baynes, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Louise Brinton, Per Broberg, Sara Y Brucker, Barbara Burwinkel, Trinidad Caldés, Federico Canzian, Brian D Carter, J Esteban Castelao, Jenny Chang-Claude, Xiaoqing Chen, Ting-Yuan David Cheng, Hans Christiansen, Christine L Clarke, Margriet Collée, Sten Cornelissen, Fergus J Couch, David 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, Miriam Dwek, Diana M Eccles, Ursula Eilber, A Heather Eliassen, Christoph Engel, Mikael Eriksson, Laura Fachal, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Susan M Gapstur, Montserrat García-Closas, Mia M Gaudet, Maya Ghoussaini, Graham G Giles, Mark S Goldberg, David E Goldgar, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Emily Hallberg, Ute Hamann, Patricia Harrington, Alexander Hein, Belynda Hicks, Peter Hillemanns, Antoinette Hollestelle, Robert N Hoover, John L Hopper, Guanmengqian Huang, Keith Humphreys, David J Hunter, Anna Jakubowska, Wolfgang Janni, Esther M John, Nichola Johnson, Kristine Jones, Michael E Jones, Audrey Jung, Rudolf Kaaks, Michael J Kerin, Elza Khusnutdinova, Veli-Matti Kosma, Vessela N Kristensen, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Sara Lindström, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jan Lubinski, Craig Luccarini, Michael P Lux, Robert J MacInnis, Tom Maishman, Ivana Maleva Kostovska, Arto Mannermaa, JoAnn E Manson, Sara Margolin, Dimitrios Mavroudis, Hanne Meijers-Heijboer, Alfons Meindl, Usha Menon, Jeffery Meyer, Anna Marie Mulligan, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Sune F Nielsen, Børge G Nordestgaard, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Ross Prentice, Nadege Presneau, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Atocha Romero, Jane Romm, Anja Rudolph, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Rodney J Scott, Christopher G Scott, Sheila Seal, Mitul Shah, Martha J Shrubsole, Ann Smeets, Melissa C Southey, John J Spinelli, Jennifer Stone, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, William Tapper, Jack A Taylor, Mary Beth Terry, Daniel C Tessier, Abigail Thomas, Kathrin Thöne, Rob A E M Tollenaar, Diana Torres, Thérèse Truong, Michael Untch, Celine Vachon, David Van Den Berg, Daniel Vincent, Quinten Waisfisz, Clarice R Weinberg, Camilla Wendt, Alice S Whittemore, Hans Wildiers, Walter C Willett, Robert Winqvist, Alicja Wolk, Lucy Xia, Xiaohong R Yang, Argyrios Ziogas, Elad Ziv, Alison M Dunning, Paul D P Pharoah, Jacques Simard, Roger L Milne, Stacey L Edwards, Peter Kraft, Douglas F Easton, Georgia Chenevix-Trench, Wei Zheng
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas...
June 18, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29915381/a-genotype-specific-surgical-approach-for-patients-with-pfeiffer-syndrome-due-to-w290c-pathogenic-variant-in-fgfr2-is-associated-with-improved-developmental-outcomes-and-reduced-mortality
#4
Tara L Wenger, Richard A Hopper, Anna Rosen, Hannah M Tully, Michael L Cunningham, Amy Lee
PURPOSE: Among children with FGFR2-associated Pfeiffer syndrome, those with the W290C pathogenic variant (PV) are reported to have the worst clinical outcomes. Mortality is high, and severe neurocognitive impairment has been reported in all surviving patients. However, it is unclear whether these poor outcomes are an unavoidable consequence of the PV itself, or could be improved with a genotype-specific treatment approach. The purpose of this report is to describe the more intensive surgical approach used for each of the three patients with W290C PV in FGFR2 at our center, all of whom survived and have normal neurocognitive functioning...
June 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29912393/a-plausibly-causal-functional-lupus-associated-risk-variant-in-the-stat1-stat4-locus
#5
Zubin Patel, Xiaoming Lu, Daniel Miller, Carmy R Forney, Joshua Lee, Arthur Lynch, Connor Schroeder, Lois Parks, Albert F Magnusen, Xiaoting Chen, Mario Pujato, Avery Maddox, Erin E Zoller, Bahram Namjou, Hermine I Brunner, Michael Henrickson, Jennifer L Huggins, Adrienne H Williams, Julie T Ziegler, Mary E Comeau, Miranda C Marion, Stuart B Glenn, Adam Adler, Nan Shen, Swapan K Nath, Anne M Stevens, Barry I Freedman, Bernardo A Pons-Estel, Betty P Tsao, Chaim O Jacob, Diane L Kamen, Elizabeth E Brown, Gary S Gilkeson, Graciela S Alarcón, Javier Martin, John D Reveille, Juan-Manuel Anaya, Judith A James, Kathy L Sivils, Lindsey A Criswell, Luis M Vilá, Michelle Petri, R Hal Scofield, Robert P Kimberly, Jeffrey C Edberg, Rosalind Ramsey-Goldman, So-Young Bang, Hye-Soon Lee, Sang-Cheol Bae, Susan A Boackle, Deborah Cunninghame Graham, Timothy J Vyse, Joan T Merrill, Timothy B Niewold, Hannah C Ainsworth, Earl D Silverman, Michael H Weisman, Daniel J Wallace, Prithvi Raj, Joel M Guthridge, Patrick M Gaffney, Jennifer A Kelly, Marta E Alarcón-Riquelme, Carl D Langefeld, Edward K Wakeland, Kenneth M Kaufman, Matthew T Weirauch, John B Harley, Leah C Kottyan
Systemic Lupus Erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly-replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341...
April 18, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29910860/a-rare-cause-of-hematemesis
#6
Adnan Qureshi, Joanne Cunningham, Ravi Madhotra, Jafer Ali, Kamran Rostami
No abstract text is available yet for this article.
2018: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/29908797/when-should-complete-blood-count-tests-be-performed-in-primary-total-hip-arthroplasty-patients
#7
Beau J Kildow, Elizabeth P Howell, Vasili Karas, William T Baumgartner, Daniel J Cunningham, Cynthia L Green, Michael P Bolognesi, Thorsten M Seyler
BACKGROUND: Routine laboratory studies are often obtained following total hip arthroplasty (THA). Moreover, laboratory studies are often continued daily until the patient is discharged regardless of medical management. The purpose of this study was to investigate the use of routine complete blood count (CBC) tests following THA. Secondarily, the purpose was to identify patient factors associated with abnormal postoperative lab values. METHODS: This retrospective review identified 352 patients who underwent primary THA at a single institution from 2012 to 2014...
May 29, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29903544/the-impact-of-traumatic-experiences-on-risky-sexual-behaviors-in-black-and-white-young-adult-women
#8
Kimberly B Werner, Renee M Cunningham-Williams, Whitney Sewell, Arpana Agrawal, Vivia V McCutcheon, Mary Waldron, Andrew C Heath, Kathleen K Bucholz
BACKGROUND: Trauma exposure has been linked to risky sexual behavior (RSB), but few studies have examined the impact of distinct trauma types on RSB in one model or how the association with trauma and RSB may differ across race. PURPOSE: The objective of the current study was to examine the contribution of trauma exposure types to RSB-substance-related RSB and partner-related RSB identified through factor analysis-in young Black and White adult women. METHODS: We investigated the associations of multiple trauma types and RSB factor scores in participants from a general population sample of young adult female twins (n = 2,948)...
June 11, 2018: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
https://www.readbyqxmd.com/read/29898387/genomic-knockout-of-two-presumed-forelimb-tbx5-enhancers-reveals-they-are-nonessential-for-limb-development
#9
Thomas J Cunningham, Joseph J Lancman, Marie Berenguer, P Duc Si Dong, Gregg Duester
A standard approach in the identification of transcriptional enhancers is the use of transgenic animals carrying DNA elements joined to reporter genes inserted randomly in the genome. We examined elements near Tbx5, a gene required for forelimb development in humans and other vertebrates. Previous transgenic studies reported a mammalian Tbx5 forelimb enhancer located in intron 2 containing a putative retinoic acid response element and a zebrafish tbx5a forelimb (pectoral fin) enhancer located downstream that is conserved from fish to mammals...
June 12, 2018: Cell Reports
https://www.readbyqxmd.com/read/29897824/the-risk-of-cardiovascular-disease-end-stage-renal-disease-and-stroke-in-post-partum-women-and-their-fetuses-after-a-hypertensive-pregnancy
#10
Mark W Cunningham, Babbette D LaMarca
Women with hypertensive pregnancy complications are at greater risk of developing cardiovascular disease (CVD), metabolic diseases, stroke, and end-stage renal disease later in life. Pregnancy complications not only effect the mother's long-term health, but also the health of the fetus immediately after delivery and into adulthood. The health of the fetus until adulthood can be influenced by developmental programming, in which the fetus is exposed to insults that will ultimately affect the growth of the offspring and increase the offspring's risk of developing hypertension, coronary heart disease, metabolic disease, and chronic kidney disease in adulthood...
June 13, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29897404/progression-free-survival-at-24-months-pfs24-and-subsequent-outcome-for-patients-with-diffuse-large-b-cell-lymphoma-dlbcl-enrolled-on-randomized-clinical-trials
#11
M J Maurer, T M Habermann, Q Shi, N Schmitz, D Cunningham, M Pfreundschuh, J F Seymour, U Jaeger, C Haioun, H Tilly, H Ghesquieres, F Merli, M Ziepert, R Herbrecht, J Flament, T Fu, C R Flowers, B Coiffier
Background: Patients with diffuse large B-cell lymphoma treated with first-line anthracycline based immunochemotherapy and remaining in remission at two years have excellent outcomes. This study assessed overall survival (OS) stratified by progression-free survival at 24 months (PFS24) using individual patient data from patients with DLBCL enrolled in multi-center, international randomized clinical trials as part of the SEAL collaboration. Patients and Methods: PFS24 was defined as being alive and progression-free 24 months after study entry...
June 12, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29895892/large-scale-mapping-of-cortical-alterations-in-22q11-2-deletion-syndrome-convergence-with-idiopathic-psychosis-and-effects-of-deletion-size
#12
Daqiang Sun, Christopher R K Ching, Amy Lin, Jennifer K Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Hansen, Julio E Villalon-Reina, Xiaoping Qu, Rachel K Jonas, Therese van Amelsvoort, Geor Bakker, Wendy R Kates, Kevin M Antshel, Wanda Fremont, Linda E Campbell, Kathryn L McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M Murphy, Declan Murphy, Michael Craig, Jacob Vorstman, Ania Fiksinski, Sanne Koops, Kosha Ruparel, David R Roalf, Raquel E Gur, J Eric Schmitt, Tony J Simon, Naomi J Goodrich-Hunsaker, Courtney A Durdle, Anne S Bassett, Eva W C Chow, Nancy J Butcher, Fidel Vila-Rodriguez, Joanne Doherty, Adam Cunningham, Marianne B M van den Bree, David E J Linden, Hayley Moss, Michael J Owen, Kieran C Murphy, Donna M McDonald-McGinn, Beverly Emanuel, Theo G M van Erp, Jessica A Turner, Paul M Thompson, Carrie E Bearden
The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date...
June 13, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29894488/maternal-antibody-and-the-maintenance-of-a-lyssavirus-in-populations-of-seasonally-breeding-african-bats
#13
David T S Hayman, Angela D Luis, Olivier Restif, Kate S Baker, Anthony R Fooks, Clint Leach, Daniel L Horton, Richard Suu-Ire, Andrew A Cunningham, James L N Wood, Colleen T Webb
Pathogens causing acute disease and death or lasting immunity require specific spatial or temporal processes to persist in populations. Host traits, such as maternally-derived antibody (MDA) and seasonal birthing affect infection maintenance within populations. Our study objective is to understand how viral and host traits lead to population level infection persistence when the infection can be fatal. We collected data on African fruit bats and a rabies-related virus, Lagos bat virus (LBV), including through captive studies...
2018: PloS One
https://www.readbyqxmd.com/read/29894151/dark-classics-in-chemical-neuroscience-fentanyl
#14
S Mallory Burns, Christopher W Cunningham, Susan L Mercer
Fentanyl rose to prominence as an alternative analgesic to morphine nearly 50 years ago; today, fentanyl has re-emerged as a dangerous recreational substance. The increased potency and analgesic effect of fentanyl are advantageous in the treatment of pain but are also responsible for the rise in unintentional opioid overdose deaths. In response to this crisis, fentanyl, its analogues, and even precursors are under heightened regulatory scrutiny. Despite this controversial history, derivatization of fentanyl has resulted in numerous synthetic analogues that provide valuable insights into opioid receptor binding and signaling events...
June 12, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29889959/junctional-tourniquet-use-during-combat-operations-in-afghanistan-the-prehospital-trauma-registry-experience
#15
Steven G Schauer, Michael D April, Andrew D Fisher, Cord W Cunningham, Jennifer Gurney
BACKGROUND: Hemorrhage is the leading cause of potentially preventable death on the battlefield. Although the resurgence of limb tourniquets revolutionized hemorrhage control in combat casualties in the recent conflicts, the mortality rate for patients with junctional hemorrhage is still high. Junctional tourniquets (JTQs) offer a mechanism to address the high mortality rate. The success of these devices in the combat setting is unclear given a dearth of existing data. METHODS: From the Prehospital Trauma Registry (PHTR) and the Department of Defense Trauma Registry, we extracted cases of JTQ use in Afghanistan...
2018: Journal of Special Operations Medicine: a Peer Reviewed Journal for SOF Medical Professionals
https://www.readbyqxmd.com/read/29889956/prehospital-administration-of-antibiotic-prophylaxis-for-open-combat-wounds-in-afghanistan-2013-2014
#16
Steven G Schauer, Andrew D Fisher, Michael D April, Katherine A Stolper, Cord W Cunningham, Robert Carter, Jessie Renee D Fernandez, James A Pfaff
BACKGROUND: Military operations place injured Servicemembers at high risk for open wounds. Austere environments and initial wound contamination increase the risk for infection. Wound infections continue to cause significant morbidity among injured Servicemembers. Limited evidence suggests that early antibiotic therapy for open wounds reduces infection rates. METHODS: We obtained data from the Prehospital Trauma Registry (PHTR) from January 2013 through September 2014...
2018: Journal of Special Operations Medicine: a Peer Reviewed Journal for SOF Medical Professionals
https://www.readbyqxmd.com/read/29889952/management-of-suspected-tension-pneumothorax-in-tactical-combat-casualty-care-tccc-guidelines-change-17-02
#17
Frank K Butler, John B Holcomb, Stacy Shackelford, Harold R Montgomery, Shawn Anderson, Jeffrey S Cain, Howard R Champion, Cord W Cunningham, Warren C Dorlac, Brendon Drew, Kurt Edwards, John V Gandy, Elon Glassberg, Jennifer Gurney, Theodore Harcke, Donald A Jenkins, Jay Johannigman, Bijan S Kheirabadi, Russ S Kotwal, Lanny F Littlejohn, Matthew Martin, Edward L Mazuchowski, Edward J Otten, Travis Polk, Peter Rhee, Jason M Seery, Zsolt Stockinger, Jeremy Torrisi, Avi Yitzak, Ken Zafren, Scott P Zietlow
This change to the Tactical Combat Casualty Care (TCCC) Guidelines that updates the recommendations for management of suspected tension pneumothorax for combat casualties in the prehospital setting does the following things: (1) Continues the aggressive approach to suspecting and treating tension pneumothorax based on mechanism of injury and respiratory distress that TCCC has advocated for in the past, as opposed to waiting until shock develops as a result of the tension pneumothorax before treating. The new wording does, however, emphasize that shock and cardiac arrest may ensue if the tension pneumothorax is not treated promptly...
2018: Journal of Special Operations Medicine: a Peer Reviewed Journal for SOF Medical Professionals
https://www.readbyqxmd.com/read/29889847/a-transcriptomic-survey-of-the-impact-of-environmental-stress-on-response-to-dengue-virus-in-the-mosquito-aedes-aegypti
#18
David S Kang, Martin S Barron, Diane D Lovin, Joanne M Cunningham, Matthew W Eng, Dave D Chadee, Jun Li, David W Severson
Populations of Aedes aegypti naturally exhibit variable susceptibility to dengue viruses. This natural variation can be impacted by nutritional stress resulting from larval-stage crowding, indicating the influence of environment components on the adult mosquito immune response. In particular, larval crowding was previously shown to reduce the susceptibility of adult females of a Trinidad field isolate of A. aegypti to the dengue serotype 2 (JAM1409) virus. Here, we present the first whole transcriptome study to address the impact of environmental stress on A...
June 11, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29888473/-if-i-had-been-given-that-information-back-then-an-interpretive-description-exploring-the-information-needs-of-adults-with-cerebral-palsy-looking-back-on-their-transition-to-adulthood
#19
M Freeman, D Stewart, C E Cunningham, J W Gorter
BACKGROUND: Young people with cerebral palsy (CP) and their families have identified lack of information received during the transition to adulthood as a barrier to successful outcomes. To date, few studies have explored the information needs, preferences, timing, and method of provision from the perspective of individuals with CP. METHOD: The methodological approach to this qualitative study was interpretive description. Nine adults living with CP, between the ages of 20 and 40, were purposively recruited in Ontario, Canada, to explore, retrospectively, their information needs during the transition to adulthood...
June 11, 2018: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29886024/ivacaftor-treatment-of-cystic-fibrosis-in-children-aged-12-to-24-months-and-with-a-cftr-gating-mutation-arrival-a-phase-3-single-arm-study
#20
Margaret Rosenfeld, Claire E Wainwright, Mark Higgins, Linda T Wang, Charlotte McKee, Daniel Campbell, Simon Tian, Jennifer Schneider, Steve Cunningham, Jane C Davies
BACKGROUND: Ivacaftor is generally safe and effective in patients aged 2 years and older who have cystic fibrosis and specific CFTR mutations. We assessed its use in children aged 12 to <24 months. METHODS: The ARRIVAL study is a phase 3, single-arm, two-part, multicentre study. Eligible children were aged 12 to <24 months at enrolment and had a confirmed diagnosis of cystic fibrosis and a CFTR gating mutation on at least one allele and could participate in one or both parts of the study...
June 6, 2018: Lancet Respiratory Medicine
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