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https://www.readbyqxmd.com/read/28632866/risks-of-breast-ovarian-and-contralateral-breast-cancer-for-brca1-and-brca2-mutation-carriers
#1
Karoline B Kuchenbaecker, John L Hopper, Daniel R Barnes, Kelly-Anne Phillips, Thea M Mooij, Marie-José Roos-Blom, Sarah Jervis, Flora E van Leeuwen, Roger L Milne, Nadine Andrieu, David E Goldgar, Mary Beth Terry, Matti A Rookus, Douglas F Easton, Antonis C Antoniou, Lesley McGuffog, D Gareth Evans, Daniel Barrowdale, Debra Frost, Julian Adlard, Kai-Ren Ong, Louise Izatt, Marc Tischkowitz, Ros Eeles, Rosemarie Davidson, Shirley Hodgson, Steve Ellis, Catherine Nogues, Christine Lasset, Dominique Stoppa-Lyonnet, Jean-Pierre Fricker, Laurence Faivre, Pascaline Berthet, Maartje J Hooning, Lizet E van der Kolk, Carolien M Kets, Muriel A Adank, Esther M John, Wendy K Chung, Irene L Andrulis, Melissa Southey, Mary B Daly, Saundra S Buys, Ana Osorio, Christoph Engel, Karin Kast, Rita K Schmutzler, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Michael L Friedlander, Sue-Anne McLachlan, Eva Machackova, Lenka Foretova, Yen Y Tan, Christian F Singer, Edith Olah, Anne-Marie Gerdes, Brita Arver, Håkan Olsson
Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. Design, Setting, and Participants: Prospective cohort study of 6036 BRCA1 and 3820 BRCA2 female carriers (5046 unaffected and 4810 with breast or ovarian cancer or both at baseline) recruited in 1997-2011 through the International BRCA1/2 Carrier Cohort Study, the Breast Cancer Family Registry and the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through family clinics (94%) and population-based studies (6%)...
June 20, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28625311/cancers-de-l%C3%A2-ovaire-brca-mut%C3%A3-consultation-d%C3%A2-oncog%C3%A3-n%C3%A3-tique-et-prescription-des-inhibiteurs-de-parp
#2
Laurence Gladieff, Dominique Stoppa Lyonnet, Alain Lortholary, Alexandra Leary, Catherine Genestie, Isabelle Ray-Coquard
GENETIC COUNSELING AND PARP INHIBITORS PRESCRIPTION: Upon the availability of the PARP inhibitors in relapsed ovarian carcinoma, the pathways of the oncogenetic counseling were modified. Any research for a constitutional alteration of the BRCA1 and BRCA2 genes must be accompanied by an oncogenetic counseling. BRCA testing is recommended from the diagnosis to every woman with an ovarian or fallopian tube or peritoneum of high grade adenocarcinoma, whatever the age at the diagnosis and her family history. In case of sensitive relapse or potential inclusion in a clinical trial and in the absence of preliminary constitutional research, the oncogenetic counseling is organized according to a fast track pathway and a somatic analysis can be realized in parallel...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28623477/use-of-the-boadicea-web-application-in-clinical-practice-appraisals-by-clinicians-from-various-countries
#3
Anne Brédart, Jean-Luc Kop, Antonis C Antoniou, Alex P Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
The 'BOADICEA' Web Application (BWA) used to assess breast cancer risk, is currently being further developed, to integrate additional genetic and non-genetic factors. We surveyed clinicians' perceived acceptability of the existing BWA v3. An online survey was conducted through the BOADICEA website, and the British, Dutch, French and Swedish genetics societies. Cross-sectional data from 443 participants who provided at least 50% responses were analysed. Respondents varied in age and, clinical seniority, but mainly comprised women (77%) and genetics professionals (82%)...
June 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28592523/germline-cdkn2a-p16ink4a-mutations-contribute-to-genetic-determinism-of-sarcoma
#4
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N'Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets
BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology. METHODS AND RESULTS: We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in CDKN2A tumour suppressor gene. We searched for individuals with sarcoma among 474 melanoma-prone families with a CDKN2A-/+ genotype and for CDKN2A mutations in 190 TP53-negative LFL families where the index case was a sarcoma...
June 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28591319/self-reported-high-cholesterol-prevalence-in-the-brazilian-population-analysis-of-the-2013-national-health-survey
#5
Paulo A Lotufo, Raul D Santos, Andrei C Sposito, Marcelo Bertolami, Jose Rocha-Faria, M Cristina Izar, Celia Szwarcwald, Rogério R Prado, Sheila R Stoppa, Deborah C Malta, Isabela M Bensenor
Background: Data on the prevalence of dyslipidemia in Brazil are scarce, with surveys available only for some towns. Objective: To evaluate the prevalence of the self-reported medical diagnosis of high cholesterol in the Brazilian adult population by use of the 2013 National Health Survey data. Methods: Descriptive study assessing the 2013 National Health Survey data, a household-based epidemiological survey with a nationally representative sample and self-reported information...
May 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28579700/acute-intrapelvic-cup-migration-advantages-of-adyuvant-stoppa-approach-for-implant-removal-reconstruction-a-case-report
#6
Murcia-Asensio Antonio, Ferrero-Manzanal Francisco, Lax-Pérez Raquel, Miguel Angel Suárez-Suárez, Emilio José Salmerón Martínez
No abstract text is available yet for this article.
September 2017: Journal of Orthopaedics
https://www.readbyqxmd.com/read/28525912/clinicopathologic-characteristics-of-endometrial-cancer-in-lynch-syndrome-a-french-multicenter-study
#7
Léa Rossi, Marie-Aude Le Frere-Belda, Pierre Laurent-Puig, Bruno Buecher, Antoine De Pauw, Dominique Stoppa-Lyonnet, Geoffroy Canlorbe, Olivier Caron, Bruno Borghese, Chrystelle Colas, Hélène Delhomelle, Nathalie Chabbert-Buffet, Sophie Grandjouan, Fabrice Lecuru, Anne-Sophie Bats
BACKGROUND: Limited data exist on Lynch syndrome (LS)-related endometrial cancer (EC) features. Amsterdam criteria II, commonly used, have poor sensitivity for detection of LS, which is underdiagnosed. AIM: The aim of this study was to describe the clinical and pathological features of LS-related EC among mutation-proven patients. METHODS: We conducted a retrospective study from 1977 to 2013 in 5 hospitals. The inclusion criteria were patients who had a primary EC associated to LS proven by a germline mutation...
June 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28477109/atm-gene-mutation-detection-techniques-and-functional-analysis
#8
Guillaume Rieunier, Catherine Dubois D'Enghien, Alice Fievet, Dorine Bellanger, Dominique Stoppa-Lyonnet, Marc-Henri Stern
Ataxia Telangiectasia (A-T) is caused by biallelic inactivation of the Ataxia Telangiectasia Mutated (ATM) gene, due to nonsense or missense mutations, small insertions/deletions (indels), splicing alterations, and large genomic rearrangements. After establishing A-T clinical diagnosis, a molecular confirmation is needed, based on the detection of one of these loss-of-function mutations in at least one allele. In most cases, the pathogenicity of the detected mutations is sufficient to make a definitive diagnosis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28470924/reversed-differential-cyanosis-during-veno-arterial-extracorporeal-membrane-oxygenation-in-infants-the-reevaluation-of-an-old-phenomenon
#9
Matteo Di Nardo, Francesca Stoppa, Piero David, Roberto Lorusso, Vito Marco Ranieri, Luciana Mascia
No abstract text is available yet for this article.
May 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/28448241/prediction-of-breast-and-prostate-cancer-risks-in-male-brca1-and-brca2-mutation-carriers-using-polygenic-risk-scores
#10
Julie Lecarpentier, Valentina Silvestri, Karoline B Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, Andrew Lee, Ali Amin Al Olama, Jonathan P Tyrer, Melissa Southey, Esther M John, Thomas A Conner, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Linda Steele, Yuan Chun Ding, Susan L Neuhausen, Thomas V O Hansen, Ana Osorio, Jeffrey N Weitzel, Angela Toss, Veronica Medici, Laura Cortesi, Ines Zanna, Domenico Palli, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Alessandra Viel, Giulia Cini, Giuseppe Damante, Stefania Tommasi, Paolo Peterlongo, Florentia Fostira, Ute Hamann, D Gareth Evans, Alex Henderson, Carole Brewer, Diana Eccles, Jackie Cook, Kai-Ren Ong, Lisa Walker, Lucy E Side, Mary E Porteous, Rosemarie Davidson, Shirley Hodgson, Debra Frost, Julian Adlard, Louise Izatt, Ros Eeles, Steve Ellis, Marc Tischkowitz, Andrew K Godwin, Alfons Meindl, Andrea Gehrig, Bernd Dworniczak, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Eric Hahnen, Jan Hauke, Kerstin Rhiem, Karin Kast, Norbert Arnold, Nina Ditsch, Shan Wang-Gohrke, Barbara Wappenschmidt, Dorothea Wand, Christine Lasset, Dominique Stoppa-Lyonnet, Muriel Belotti, Francesca Damiola, Laure Barjhoux, Sylvie Mazoyer, Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, Kathleen B M Claes, Miguel de la Hoya, Vanesa Garcia-Barberan, Trinidad Caldes, Pedro Perez Segura, Johanna I Kiiski, Kristiina Aittomäki, Sofia Khan, Heli Nevanlinna, Christi J van Asperen, Tibor Vaszko, Miklos Kasler, Edith Olah, Judith Balmaña, Sara Gutiérrez-Enríquez, Orland Diez, Alex Teulé, Angel Izquierdo, Esther Darder, Joan Brunet, Jesús Del Valle, Lidia Feliubadalo, Miquel Angel Pujana, Conxi Lazaro, Adalgeir Arason, Bjarni A Agnarsson, Oskar Th Johannsson, Rosa B Barkardottir, Elisa Alducci, Silvia Tognazzo, Marco Montagna, Manuel R Teixeira, Pedro Pinto, Amanda B Spurdle, Helene Holland, Jong Won Lee, Min Hyuk Lee, Jihyoun Lee, Sung-Won Kim, Eunyoung Kang, Zisun Kim, Priyanka Sharma, Timothy R Rebbeck, Joseph Vijai, Mark Robson, Anne Lincoln, Jacob Musinsky, Pragna Gaddam, Yen Y Tan, Andreas Berger, Christian F Singer, Jennifer T Loud, Mark H Greene, Anna Marie Mulligan, Gord Glendon, Irene L Andrulis, Amanda Ewart Toland, Leigha Senter, Anders Bojesen, Henriette Roed Nielsen, Anne-Bine Skytte, Lone Sunde, Uffe Birk Jensen, Inge Sokilde Pedersen, Lotte Krogh, Torben A Kruse, Maria A Caligo, Sook-Yee Yoon, Soo-Hwang Teo, Anna von Wachenfeldt, Dezheng Huo, Sarah M Nielsen, Olufunmilayo I Olopade, Katherine L Nathanson, Susan M Domchek, Christa Lorenchick, Rachel C Jankowitz, Ian Campbell, Paul James, Gillian Mitchell, Nick Orr, Sue Kyung Park, Mads Thomassen, Kenneth Offit, Fergus J Couch, Jacques Simard, Douglas F Easton, Georgia Chenevix-Trench, Rita K Schmutzler, Antonis C Antoniou, Laura Ottini
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray...
April 27, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28398078/fetal-growth-and-childhood-lung-function-in-the-stoppa-twin-study
#11
Anne K Örtqvist, Vilhelmina Ullemar, Cecilia Lundholm, Ralf Kuja-Halkola, Patrik K E Magnusson, Paul Lichtenstein, Jenny Hallberg, Catarina Almqvist
Rationale Associations between fetal growth restriction and lung function impairment could be due to gestational age, shared (familial) genetic and environmental factors. Objectives To study the association between fetal growth and lung function in childhood, while taking gestational age and familial factors into account. Methods Firstly, full cohort analyses of twins were performed to study the association between birth weight, gestational age and fetal growth and lung function (forced expiratory volume in first second (FEV1), forced vital capacity (FVC) and FEV1/FVC) in z-scores before (n=520) and after (n=539) bronchodilator treatment...
April 11, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28398055/accurate-vibrational-rotational-parameters-and-infrared-intensities-of-1-bromo-1-fluoroethene-a-joint-experimental-analysis-and-ab-initio-study
#12
Andrea Pietropolli Charmet, Paolo Stoppa, Santi Giorgianni, Julien Bloino, Nicola Tasinato, Ivan Carnimeo, Malgorzata Biczysko, Cristina Puzzarini
The medium-resolution gas-phase infrared (IR) spectra of 1-bromo-1-fluoroethene (BrFC═CH2, 1,1-C2H2BrF) were investigated in the range 300-6500 cm(-1), and the vibrational analysis led to the assignment of all fundamentals as well as many overtone and combination bands up to three quanta, thus giving an accurate description of its vibrational structure. Integrated band intensity data were determined with high precision from the measurements of their corresponding absorption cross sections. The vibrational analysis was supported by high-level ab initio investigations...
May 4, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/28363183/progrip-self-gripping-mesh-in-rives-stoppa-repair-are-there-any-differences-in-outcomes-versus-a-retromuscular-polypropylene-mesh-fixed-with-sutures-a-case-series-study
#13
José Bueno-Lledó, Antonio Torregrosa, Brenda Arguelles, Omar Carreño, Providencia García, Santiago Bonafé, José Iserte
BACKGROUND: Rives-Stoppa repair is widely accepted technique in large midline IH, and appears to be advantageous compared to other surgical techniques concerning complications and recurrence rates. The aim of this case series study was to analyze 1-year outcomes in patients with IH treated with Progrip self-gripping mesh compared to polypropylene (PPL) mesh fixed with sutures during the Rives-Stoppa technique. METHODS: Between June 2014 and June 2015, we performed a prospective comparative non-randomized (case series) analysis between 25 patients with IH using retromuscular Progrip self-gripping mesh and 25 patients with retromuscular PPL mesh fixed with sutures, under Rives-Stoppa repair...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28350543/mondo-a-neutron-tracker-for-particle-therapy-secondary-emission-characterisation
#14
M Marafini, L Gasparini, R Mirabelli, D Pinci, V Patera, A Sciubba, E Spiriti, D Stoppa, G Traini, A Sarti
Tumour control is performed in particle therapy using particles and ions, whose high irradiation precision enhances the effectiveness of the treatment, while sparing the healthy tissue surrounding the target volume. Dose range monitoring devices using photons and charged particles produced by the beam interacting with the patient's body have already been proposed, but no attempt has been made yet to exploit the detection of the abundant neutron component. Since neutrons can release a significant dose far away from the tumour region, precise measurements of their flux, production energy and angle distributions are eagerly sought in order to improve the treatment planning system (TPS) software...
April 21, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28346442/identification-of-12-new-susceptibility-loci-for-different-histotypes-of-epithelial-ovarian-cancer
#15
Catherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, Siddhartha P Kar, Kate Lawrenson, Stacey J Winham, Joe Dennis, Ailith Pirie, Marjorie J Riggan, Ganna Chornokur, Madalene A Earp, Paulo C Lyra, Janet M Lee, Simon Coetzee, Jonathan Beesley, Lesley McGuffog, Penny Soucy, Ed Dicks, Andrew Lee, Daniel Barrowdale, Julie Lecarpentier, Goska Leslie, Cora M Aalfs, Katja K H Aben, Marcia Adams, Julian Adlard, Irene L Andrulis, Hoda Anton-Culver, Natalia Antonenkova, Gerasimos Aravantinos, Norbert Arnold, Banu K Arun, Brita Arver, Jacopo Azzollini, Judith Balmaña, Susana N Banerjee, Laure Barjhoux, Rosa B Barkardottir, Yukie Bean, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Marcus Q Bernardini, Michael J Birrer, Line Bjorge, Amanda Black, Kenneth Blankstein, Marinus J Blok, Clara Bodelon, Natalia Bogdanova, Anders Bojesen, Bernardo Bonanni, Åke Borg, Angela R Bradbury, James D Brenton, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Fiona Bruinsma, Joan Brunet, Bruno Buecher, Ralf Butzow, Saundra S Buys, Trinidad Caldes, Maria A Caligo, Ian Campbell, Rikki Cannioto, Michael E Carney, Terence Cescon, Salina B Chan, Jenny Chang-Claude, Stephen Chanock, Xiao Qing Chen, Yoke-Eng Chiew, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Thomas Conner, Linda S Cook, Jackie Cook, Daniel W Cramer, Julie M Cunningham, Aimee A D'Aloisio, Mary B Daly, Francesca Damiola, Sakaeva Dina Damirovna, Agnieszka Dansonka-Mieszkowska, Fanny Dao, Rosemarie Davidson, Anna DeFazio, Capucine Delnatte, Kimberly F Doheny, Orland Diez, Yuan Chun Ding, Jennifer Anne Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Laure Dossus, Mercedes Duran, Matthias Dürst, Bernd Dworniczak, Diana Eccles, Todd Edwards, Ros Eeles, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, Steve Ellis, Mingajeva Elvira, Kevin H Eng, Christoph Engel, D Gareth Evans, Peter A Fasching, Sarah Ferguson, Sandra Fert Ferrer, James M Flanagan, Zachary C Fogarty, Renée T Fortner, Florentia Fostira, William D Foulkes, George Fountzilas, Brooke L Fridley, Tara M Friebel, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, María J García, Vanesa Garcia-Barberan, Andrea Gehrig, Aleksandra Gentry-Maharaj, Anne-Marie Gerdes, Graham G Giles, Rosalind Glasspool, Gord Glendon, Andrew K Godwin, David E Goldgar, Teodora Goranova, Martin Gore, Mark H Greene, Jacek Gronwald, Stephen Gruber, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Holly R Harris, Jan Hauke, Alexander Hein, Alex Henderson, Michelle A T Hildebrandt, Peter Hillemanns, Shirley Hodgson, Claus K Høgdall, Estrid Høgdall, Frans B L Hogervorst, Helene Holland, Maartje J Hooning, Karen Hosking, Ruea-Yea Huang, Peter J Hulick, Jillian Hung, David J Hunter, David G Huntsman, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Edwin S Iversen, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Mats Jernetz, Allan Jensen, Uffe Birk Jensen, Esther M John, Sharon Johnatty, Michael E Jones, Päivi Kannisto, Beth Y Karlan, Anthony Karnezis, Karin Kast, Catherine J Kennedy, Elza Khusnutdinova, Lambertus A Kiemeney, Johanna I Kiiski, Sung-Won Kim, Susanne K Kjaer, Martin Köbel, Reidun K Kopperud, Torben A Kruse, Jolanta Kupryjanczyk, Ava Kwong, Yael Laitman, Diether Lambrechts, Nerea Larrañaga, Melissa C Larson, Conxi Lazaro, Nhu D Le, Loic Le Marchand, Jong Won Lee, Shashikant B Lele, Arto Leminen, Dominique Leroux, Jenny Lester, Fabienne Lesueur, Douglas A Levine, Dong Liang, Clemens Liebrich, Jenna Lilyquist, Loren Lipworth, Jolanta Lissowska, Karen H Lu, Jan Lubinński, Craig Luccarini, Lene Lundvall, Phuong L Mai, Gustavo Mendoza-Fandiño, Siranoush Manoukian, Leon F A G Massuger, Taymaa May, Sylvie Mazoyer, Jessica N McAlpine, Valerie McGuire, John R McLaughlin, Iain McNeish, Hanne Meijers-Heijboer, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Melissa A Merritt, Roger L Milne, Gillian Mitchell, Francesmary Modugno, Joanna Moes-Sosnowska, Melissa Moffitt, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Katherine L Nathanson, Lotte Nedergaard, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kunle Odunsi, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Curtis Olswold, David M O'Malley, Kai-Ren Ong, N Charlotte Onland-Moret, Nicholas Orr, Sandra Orsulic, Ana Osorio, Domenico Palli, Laura Papi, Tjoung-Won Park-Simon, James Paul, Celeste L Pearce, Inge Søkilde Pedersen, Petra H M Peeters, Bernard Peissel, Ana Peixoto, Tanja Pejovic, Liisa M Pelttari, Jennifer B Permuth, Paolo Peterlongo, Lidia Pezzani, Georg Pfeiler, Kelly-Anne Phillips, Marion Piedmonte, Malcolm C Pike, Anna M Piskorz, Samantha R Poblete, Timea Pocza, Elizabeth M Poole, Bruce Poppe, Mary E Porteous, Fabienne Prieur, Darya Prokofyeva, Elizabeth Pugh, Miquel Angel Pujana, Pascal Pujol, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Kerstin Rhiem, Patricia Rice, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Cristina Rodríguez-Antona, Jane Romm, Matti A Rookus, Mary Anne Rossing, Joseph H Rothstein, Anja Rudolph, Ingo B Runnebaum, Helga B Salvesen, Dale P Sandler, Minouk J Schoemaker, Leigha Senter, V Wendy Setiawan, Gianluca Severi, Priyanka Sharma, Tameka Shelford, Nadeem Siddiqui, Lucy E Side, Weiva Sieh, Christian F Singer, Hagay Sobol, Honglin Song, Melissa C Southey, Amanda B Spurdle, Zsofia Stadler, Doris Steinemann, Dominique Stoppa-Lyonnet, Lara E Sucheston-Campbell, Grzegorz Sukiennicki, Rebecca Sutphen, Christian Sutter, Anthony J Swerdlow, Csilla I Szabo, Lukasz Szafron, Yen Y Tan, Jack A Taylor, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Kathryn L Terry, Pamela J Thompson, Liv Cecilie Vestrheim Thomsen, Darcy L Thull, Laima Tihomirova, Anna V Tinker, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Alicia Tone, Britton Trabert, Ruth C Travis, Antonia Trichopoulou, Nadine Tung, Shelley S Tworoger, Anne M van Altena, David Van Den Berg, Annemarie H van der Hout, Rob B van der Luijt, Mattias Van Heetvelde, Els Van Nieuwenhuysen, Elizabeth J van Rensburg, Adriaan Vanderstichele, Raymonda Varon-Mateeva, Ana Vega, Digna Velez Edwards, Ignace Vergote, Robert A Vierkant, Joseph Vijai, Athanassios Vratimos, Lisa Walker, Christine Walsh, Dorothea Wand, Shan Wang-Gohrke, Barbara Wappenschmidt, Penelope M Webb, Clarice R Weinberg, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Juul T Wijnen, Lynne R Wilkens, Alicja Wolk, Michelle Woo, Xifeng Wu, Anna H Wu, Hannah Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Kristin K Zorn, Steven A Narod, Douglas F Easton, Christopher I Amos, Joellen M Schildkraut, Susan J Ramus, Laura Ottini, Marc T Goodman, Sue K Park, Linda E Kelemen, Harvey A Risch, Mads Thomassen, Kenneth Offit, Jacques Simard, Rita Katharina Schmutzler, Dennis Hazelett, Alvaro N Monteiro, Fergus J Couch, Andrew Berchuck, Georgia Chenevix-Trench, Ellen L Goode, Thomas A Sellers, Simon A Gayther, Antonis C Antoniou, Paul D P Pharoah
To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC...
May 2017: Nature Genetics
https://www.readbyqxmd.com/read/28342820/injury-of-the-obturator-nerve-in-the-modified-stoppa-approach-for-acetabular-fractures
#16
J W Kim, H C Shon, J H Park
INTRODUCTION: The modified Stoppa approach for acetabular fractures has become popular. However, the possibility of injury to the obturator nerve with this approach has not been sufficiently considered. We have experienced a case of nerve entrapment in severely displaced fractures. Therefore, we performed a retrospective study to: (1) evaluate the incidence of obturator nerve injury in the modified Stoppa approach for acetabular fractures; (2) analyze the relationship between the extent of displacement of the quadrilateral plate and injury to the obturator nerve...
March 22, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28293859/supporting-disclosure-of-genetic-information-to-family-members-professional-practice-and-timelines-in-cancer-genetics
#17
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
#18
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
#19
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
#20
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
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