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https://www.readbyqxmd.com/read/28095985/open-preperitoneal-groin-hernia-repair-with-mesh-a-qualitative-systematic-review
#1
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
#2
A Diociaiuti, G Zambruno, F Diomedi Camassei, G Di Zenzo, I Capolupo, F Stoppa, V Forziati, M El Hachem
The childhood variant of linear IgA bullous dermatosis (LABD) is characterized by blistering lesions of the perineum and perioral area with an annular or "rosette-like" arrangement, in addition to the pathognomonic linear IgA deposits along the cutaneous basement membrane zone (BMZ).(1) The disease mainly occurs in preschool children.(1) However, a handful of neonatal cases have been described, most of them presenting with severe mucosal involvement.(2-8) We report an additional case of neonatal LABD with life-threatening respiratory tract manifestations...
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
#3
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...
January 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28044960/transversus-abdominis-muscle-release-tar-for-large-incisional-hernia-repair
#4
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
#5
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...
December 21, 2016: 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
#6
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
#7
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
#8
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus
BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case"...
November 11, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27821315/current-perspectives-on-recommendations-for-brca-genetic-testing-in-ovarian-cancer-patients
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/27612987/upfront-autologous-stem-cell-transplantation-for-newly-diagnosed-elderly-multiple-myeloma-patients-a-prospective-multicenter-study
#16
Laurent Garderet, Eric Beohou, Denis Caillot, Anne Marie Stoppa, Cyrille Touzeau, Marie Lorraine Chretien, Lionel Karlin, Philippe Moreau, Jean Fontan, Didier Blaise, Emmanuelle Polge, Mor Seny Gueye, Souhila Ikhlef, Zora Marjanovic, Myriam Labopin, Mohamad Mohty
The feasibility and efficacy of high-dose melphalan followed by autologous hematopoietic stem cell transplantation in newly diagnosed elderly patients with multiple myeloma was analyzed prospectively. Fifty-six multiple myeloma patients, aged 65 years or over, from 6 French centers were studied. The induction therapy was bortezomib-based in combination with dexamethasone and either thalidomide, cyclophosphamide or lenalidomide, for 4-6 cycles. Peripheral blood stem cells were collected after high-dose cyclophosphamide plus G-CSF or G-CSF alone, with plerixafor if needed...
November 2016: Haematologica
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#17
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27584820/anterograde-fixation-module-for-posterior-acetabular-column-fracture-computer-assisted-determination-of-optimal-entry-point-angle-and-length-for-screw-insertion
#18
Yongqiang Xu, Chuangxin Lin, Lifeng Zhang, Miaoxiong Lin, Jianqiang Lai, Shenglu Cao, Geng Peng, Kai Feng, Ge Yan, Daozhang Cai, Gang Wang
BACKGROUND The aim of this study was to provide valid data for a plate-screw fixation model for fractured posterior-anterior columns of the acetabulum. MATERIAL AND METHODS Nineteen cadaveric bony hemi-pelvis specimens were obtained and 50 healthy adults were enrolled. The modified Stoppa approach and computed tomography (CT) imaging were used to collect the measured parameter data of the module. RESULTS The measured parameter data were as follows: OP, 0.96±0.32 cm in females and 0.92±0.16 cm in males (P>0...
September 1, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27583105/stoppa-approach-for-anterior-plate-fixation-in-unstable-pelvic-ring-injury
#19
Hyoung-Keun Oh, Suk Kyu Choo, Jung-Jae Kim, Mark Lee
BACKGROUND: The Stoppa (intrapelvic) approach has been introduced for the treatment of pelvic-acetabular fractures; it allows easy exposure of the pelvic brim, where the bone quality is optimal for screw fixation. The purpose of our study was to investigate the surgical outcomes of unstable pelvic ring injuries treated using the Stoppa approach for stable anterior ring fixation. METHODS: We analyzed 22 cases of unstable pelvic ring injury treated with plate fixation of the anterior ring with the Stoppa approach...
September 2016: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/27514841/the-biological-effects-and-clinical-implications-of-brca-mutations-where-do-we-go-from-here
#20
REVIEW
Dominique Stoppa-Lyonnet
BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination (HR). Cells that lack either BRCA1 or BRCA2 repair these lesions by alternative, more error-prone mechanisms. Individuals carrying germline pathogenic mutations in BRCA1 or BRCA2 are at highly elevated risk of developing breast and/or ovarian cancer. Genetic testing for germline pathogenic mutations in BRCA1 and BRCA2 has proved to be a valuable tool for determining eligibility for cancer screening and prevention programmes...
September 2016: European Journal of Human Genetics: EJHG
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