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https://www.readbyqxmd.com/read/28293859/supporting-disclosure-of-genetic-information-to-family-members-professional-practice-and-timelines-in-cancer-genetics
#1
Benjamin Derbez, Antoine de Pauw, Dominique Stoppa-Lyonnet, Sandrine de Montgolfier
Disclosure of genetic information within families is one of the longstanding questions under scrutiny in the field of genetics. Most of the probands entrusted with family disclosure succeed in this task, but there are still many problematic cases where it proves difficult. How can professionals help probands disclose this information? What levers can they activate to foster the diffusion of genetic information within families? In the context of a new legal framework concerning this question in France, this paper offers a comprehensive view of the process of genetic counselling in a cancer genetics department...
March 14, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28248207/biallelic-inactivation-of-rev7-is-associated-with-fanconi-anemia
#2
Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d'Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D D'Andrea, Jean Soulier
No abstract text is available yet for this article.
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28246617/modified-stoppa-approach-versus-ilioinguinal-approach-for-anterior-acetabular-fractures-a-systematic-review-and-meta-analysis
#3
REVIEW
Sanjay Meena, Pankaj Kumar Sharma, Samarth Mittal, Jyoti Sharma, Buddhadev Chowdhury
INTRODUCTION: Modified Stoppa approach was introduced as an alternative to ilioinguinal approach for management of anterior fractures of acetabulum in order to reduce complications of the latter. However, the efficacy of either approach over other is not well established. The aim of this meta-analysis is to compare the efficacy of modified stoppa and ilioinguinal approach in the management of acetabular fractures in terms of a) quality of reduction achieved b) complication rates c) functional outcomes d) operative time e) intra-operative blood loss...
January 2017: Bulletin of Emergency and Trauma
https://www.readbyqxmd.com/read/28242066/insertion-of-psoas-minor-tendon-at-pelvic-brim-a-novel-anatomic-landmark-for-extra-articular-screw-placement-through-stoppa-approach
#4
Ruipeng Zhang, Zhiyong Hou, Liping Zhang, Yingchao Yin, Wei Chen, Yingze Zhang
BACKGROUND: The psoas minor partially inserted to the superior pelvic brim. And the plate used to fix the acetabular fracture has always been positioned at the pelvic brim after reduction through the Stoppa approach. However, there are few studies depicting the clinical significance of the psoas minor. The purpose of this paper was to explore the relationship between the insertion of the psoas minor tendon at the pelvic brim (IPMTPB) and screw placement through the Stoppa approach. MATERIALS AND METHODS: Fifteen cadavers were dissected for adequate exposure to IPMTPB in our study...
February 21, 2017: Injury
https://www.readbyqxmd.com/read/28216064/internal-fixation-of-acetabular-fractures-in-an-older-population-using-the-timi-approach-midterm-results-of-a-prospective-study
#5
Rene Aigner, Ralf Hellige, Sabine Knippel, Ludwig Oberkircher, Steffen Ruchholtz, Benjamin Buecking
INTRODUCTION: The incidence of geriatric acetabular fractures continues to increase due to demographic changes. In the elderly, anterior column fractures are common, and standard approaches are associated with a considerable risk for surgery-associated complications. Therefore, a minimally invasive approach was developed in our department. The aim of this study was to examine early and mid-term results regarding the use of this novel two-incision minimally invasive (TIMI) approach in patients aged over 55 years with acetabular fractures...
February 3, 2017: Injury
https://www.readbyqxmd.com/read/28095985/open-preperitoneal-groin-hernia-repair-with-mesh-a-qualitative-systematic-review
#6
REVIEW
Kristoffer Andresen, Jacob Rosenberg
BACKGROUND: For the repair of inguinal hernias, several surgical methods have been presented where the purpose is to place a mesh in the preperitoneal plane through an open access. The aim of this systematic review was to describe preperitoneal repairs with emphasis on the technique. DATA SOURCES: A systematic review was conducted and reported according to the PRISMA statement. PubMed, Cochrane library and Embase were searched systematically. Studies were included if they provided clinical data with more than 30 days follow up following repair of an inguinal hernia with an open preperitoneal mesh technique...
January 10, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28079922/iga-tracheobronchial-deposits-underlie-respiratory-compromise-in-neonatal-linear-iga-bullous-dermatosis
#7
LETTER
A Diociaiuti, G Zambruno, F Diomedi Camassei, G Di Zenzo, I Capolupo, F Stoppa, V Forziati, M El Hachem
No abstract text is available yet for this article.
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28065853/sitagliptin-inhibit-human-lymphocytes-proliferation-and-th1-th17-differentiation-in-vitro
#8
Marcelo Maia Pinheiro, Caroline Lais Stoppa, Claudete Justina Valduga, Cristina Eunice Okuyama, Renata Gorjão, Regina Mara Silva Pereira, Susana Nogueira Diniz
Dipeptidyl peptidase-4 (DPP-4) inhibitors are a new class of anti-diabetic agents that are widely used in clinical practice to improve glycemic control in patients with type 2 diabetes. DPP-4 is also known as lymphocyte cell surface protein, CD26, and plays an important role in T-cell immunity. Recent studies suggest that DPP-4 inhibitors improve beta-cell function and attenuate autoimmunity in type 1 diabetic mouse models. To investigate the direct effect of DPP4 in immune response, human peripheral blood mononuclear cells (PBMC) from healthy volunteers were obtained by Ficoll gradient and cultivated in the absence (control) or presence of phytohemagglutinin (PHA), or stimulated with PHA and treated with sitagliptin...
March 30, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28044960/transversus-abdominis-muscle-release-tar-for-large-incisional-hernia-repair
#9
Valentin Oprea, Victor Gheorghe Radu, Doru Moga
Background: complex ventral hernia repair is a frequent and challenging topic. Reconstructive techniques are numerous but most of them are unable to achieve the goals of hernioplasty. Posterior component separation with transverses abdominis muscle release (TAR) is a novel approach that offers a solution for complex ventral hernias. METHOD: The posterior rectus sheath is incised and the retrorectus plane is developed. In a modification of the Rives-Stoppa technique, the transversus abdominis is released medial to the linea semilunaris to expose a broad plane that extends from the central tendon of the diaphragm superiorly, to the space of Retzius inferiorly, and laterally to the retro-peritoneum...
November 2016: Chirurgia
https://www.readbyqxmd.com/read/28000698/mosaicism-and-prenatal-diagnosis-options-insights-from-retinoblastoma
#10
Catherine Dehainault, Lisa Golmard, Gaël A Millot, Agathe Charpin, Anthony Laugé, Julien Tarabeux, Isabelle Aerts, Nathalie Cassoux, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Claude Houdayer
In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On the other hand, a pre-zygotic mutation transmitted by an unaffected mosaic parent implies recurrent risks in offspring. To better estimate the contribution of pre- and post-zygotic events, we analysed 124 consecutive bilateral retinoblastoma probands, carrying a heterozygous RB1 pathogenic variant and their unaffected, non-carrier parents...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27958526/coincidence-detection-of-spatially-correlated-photon-pairs-with-a-monolithic-time-resolving-detector-array
#11
Manuel Unternährer, Bänz Bessire, Leonardo Gasparini, David Stoppa, André Stefanov
We demonstrate coincidence measurements of spatially entangled photons by means of a multi-pixel based detection array. The sensor, originally developed for positron emission tomography applications, is a fully digital 8×16 silicon photomultiplier array allowing not only photon counting but also per-pixel time stamping of the arrived photons with an effective resolution of 265 ps. Together with a frame rate of 500 kfps, this property exceeds the capabilities of conventional charge-coupled device cameras which have become of growing interest for the detection of transversely correlated photon pairs...
December 12, 2016: Optics Express
https://www.readbyqxmd.com/read/27942876/quantitative-assessment-of-the-impacts-of-stoppa-repair-and-total-extraperitoneal-repair-on-the-lower-extremity-muscular-functions-in-cases-of-unilateral-inguinal-hernia-a-randomized-controlled-study
#12
N Akgül, M Yaprak, V Doğru, N Balci, C Arici, A Mesci
PURPOSE: Choosing the best operative technique for unilateral inguinal hernia is a challenge for surgeons. Therefore, anticipating loss of strength in the lower extremity muscles could be the initial step to make the right decision. To this end, this prospective randomized controlled study compared the physical activity parameters of the lower extremity muscles in patients who underwent total extraperitoneal repair (TEP) and Stoppa repair. METHODS: Fifty patients with unilateral inguinal hernia who were 18-65 years of age were admitted to a single institution in a metropolitan city in Turkey...
December 10, 2016: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/27836010/inheritance-of-deleterious-mutations-at-both-brca1-and-brca2-in-an-international-sample-of-32-295-women
#13
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/27821315/current-perspectives-on-recommendations-for-brca-genetic-testing-in-ovarian-cancer-patients
#14
Ignace Vergote, Susana Banerjee, Anne-Marie Gerdes, Christi van Asperen, Christian Marth, Fatima Vaz, Isabelle Ray-Coquard, Dominique Stoppa-Lyonnet, Antonio Gonzalez-Martin, Jalid Sehouli, Nicoletta Colombo
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients...
November 4, 2016: European Journal of Cancer
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
#15
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...
January 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27729323/serum-free-light-chains-not-urine-specimens-should-be-used-to-evaluate-response-in-light-chain-multiple-myeloma
#16
Thomas Dejoie, Jill Corre, Helene Caillon, Cyrille Hulin, Aurore Perrot, Denis Caillot, Eileen Boyle, Marie-Lorraine Chretien, Jean Fontan, Karim Belhadj, Sabine Brechignac, Olivier Decaux, Laurent Voillat, Philippe Rodon, Olivier Fitoussi, Carla Araujo, Lotfi Benboubker, Charlotte Fontan, Mourad Tiab, Pascal Godmer, Odile Luycx, Olivier Allangba, Jean-Michel Pignon, Jean-Gabriel Fuzibet, Laurence Legros, Anne Marie Stoppa, Mamoun Dib, Brigitte Pegourie, Frederique Orsini-Piocelle, Lionel Karlin, Bertrand Arnulf, Murielle Roussel, Laurent Garderet, Mohamad Mohty, Nathalie Meuleman, Chantal Doyen, Pascal Lenain, Margaret Macro, Xavier Leleu, Thierry Facon, Philippe Moreau, Michel Attal, Herve Avet-Loiseau
Guidelines for monitoring multiple myeloma (MM) patients expressing light chains only (light-chain MM [LCMM]) rely on measurements of monoclonal protein in urine. Alternatively, serum free light chain (sFLC) measurements have better sensitivity over urine methods, however, demonstration that improved sensitivity provides any clinical benefit is lacking. Here, we compared performance of serum and urine measurements in 113 (72κ, 41λ) newly diagnosed LCMM patients enrolled in the Intergroupe Francophone du Myélome (IFM) 2009 trial...
December 22, 2016: Blood
https://www.readbyqxmd.com/read/27728955/laparoscopic-stapled-sublay-repair-with-self-gripping-mesh-a-simplified-technique-for-minimally-invasive-extraperitoneal-ventral-hernia-repair
#17
Alexandra M Moore, Lisa N Anderson, David C Chen
INTRODUCTION: Minimally invasive laparoscopic and robotic techniques for ventral hernia repair have evolved to achieve the benefits and minimize the limitations of both the open Rives-Stoppa sublay mesh repair and laparoscopic intraperitoneal onlay mesh (IPOM) repair. By combining the principles of a retromuscular repair with the benefits of a minimally invasive approach, these techniques attempt to decrease recurrence, increase functionality, exclude mesh from the viscera, limit infection and wound complications, and minimize pain...
October 26, 2016: Surgical Technology International
https://www.readbyqxmd.com/read/27696847/study-of-the-vibrational-spectra-and-absorption-cross-sections-of-1-chloro-1-fluoroethene-by-a-joint-experimental-and-ab-initio-approach
#18
Andrea Pietropolli Charmet, Paolo Stoppa, Nicola Tasinato, Santi Giorgianni, Alberto Gambi
The gas-phase infrared spectra of 1-chloro-1-fluoroethene (geminal chloro-fluoroethene, ClFC=CH2, 1,1-C2H2ClF) were recorded at medium resolution in the range 400 - 6400 cm(-1) and the vibrational analysis led to revise the previous assignments for the ν11 (A'' symmetry), ν2 (A' symmetry) and ν1 (A' symmetry) bands. Besides the fundamentals, all the most relevant spectral features were interpreted in terms of overtone and combination bands, thus obtaining an accurate description of the vibrational structure of ClFC=CH2...
October 3, 2016: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/27672464/traumatic-testicular-dislocation-associated-with-lateral-compression-pelvic-ring-injury-and-t-shaped-acetabulum-fracture
#19
Daniel Howard Wiznia, Mike Wang, Chang Yeon-Kim, Paul Tomaszewski, Michael P Leslie
We report a case of a unilateral testicular dislocation to the superficial inguinal region associated with a lateral compression type pelvic ring injury (OTA classification 61-C3.3a2, b2, c3) and left T-shaped acetabulum fracture (OTA classification 62-B2) in a 44-year-old male who was in a motorcycle accident. The testicular dislocation was noted during the emergency department primary survey, and its location and viability were verified with ultrasound. The testicle was isolated during surgical stabilization of the left acetabulum through a Pfannenstiel incision and modified-Stoppa approach and returned through the inguinal canal to the scrotum...
2016: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/27633797/brca-share-a-collection-of-clinical-brca-gene-variants
#20
Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S Weymouth, Alecia Willis, Marcia Eisenberg, Charles M Strom
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories...
December 2016: Human Mutation
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