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https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#1
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29071503/corrections-to-use-of-the-boadicea-web-application-in-clinical-practice-appraisals-by-clinicians-from-various-countries
#2
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 article "Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries" written by 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, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 16th June 2017 without open access...
October 25, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29058716/identification-of-ten-variants-associated-with-risk-of-estrogen-receptor-negative-breast-cancer
#3
Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Christine B Ambrosone, Christopher I Amos, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Norbert Arnold, Kristan J Aronson, Bernd Auber, Paul L Auer, Margreet G E M Ausems, Jacopo Azzollini, François Bacot, Judith Balmaña, Monica Barile, Laure Barjhoux, Rosa B Barkardottir, Myrto Barrdahl, Daniel Barnes, Daniel Barrowdale, Caroline Baynes, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Yves-Jean Bignon, Kathleen R Blazer, Marinus J Blok, Carl Blomqvist, William Blot, Kristie Bobolis, Bram Boeckx, Natalia V Bogdanova, Anders Bojesen, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Aniko Bozsik, Angela R Bradbury, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Brigitte Bressac-de Paillerets, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Joan Brunet, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Jinyoung Byun, Qiuyin Cai, Trinidad Caldés, Maria A Caligo, Ian Campbell, Federico Canzian, Olivier Caron, Angel Carracedo, Brian D Carter, J Esteban Castelao, Laurent Castera, Virginie Caux-Moncoutier, Salina B Chan, Jenny Chang-Claude, Stephen J Chanock, Xiaoqing Chen, Ting-Yuan David Cheng, Jocelyne Chiquette, Hans Christiansen, Kathleen B M Claes, Christine L Clarke, Thomas Conner, Don M Conroy, Jackie Cook, Emilie Cordina-Duverger, Sten Cornelissen, Isabelle Coupier, Angela Cox, David G Cox, Simon S Cross, Katarina Cuk, Julie M Cunningham, Kamila Czene, Mary B Daly, Francesca Damiola, Hatef Darabi, Rosemarie Davidson, Kim De Leeneer, Peter Devilee, Ed Dicks, Orland Diez, Yuan Chun Ding, Nina Ditsch, Kimberly F Doheny, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Stéphane Dubois, Pierre-Antoine Dugué, Martine Dumont, Alison M Dunning, Lorraine Durcan, Miriam Dwek, Bernd Dworniczak, Diana Eccles, Ros Eeles, Hans Ehrencrona, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, A Heather Eliassen, Christoph Engel, Mikael Eriksson, Laura Fachal, Laurence Faivre, Peter A Fasching, Ulrike Faust, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, William D Foulkes, Eitan Friedman, Lin Fritschi, Debra Frost, Marike Gabrielson, Pragna Gaddam, Marilie D Gammon, Patricia A Ganz, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, José A García-Sáenz, Mia M Gaudet, Marion Gauthier-Villars, Andrea Gehrig, Vassilios Georgoulias, Anne-Marie Gerdes, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Paul Goodfellow, Mark H Greene, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Daphne Gschwantler-Kaulich, Pascal Guénel, Qi Guo, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Emily Hallberg, Ute Hamann, Nathalie Hamel, Susan Hankinson, Thomas V O Hansen, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Catherine S Healey, Alexander Hein, Sonja Helbig, Alex Henderson, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Shirley Hodgson, Frans B Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Bob Hoover, John L Hopper, Chunling Hu, Guanmengqian Huang, Peter J Hulick, Keith Humphreys, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Motoki Iwasaki, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Uffe Birk Jensen, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Karin Kast, Renske Keeman, Michael J Kerin, Carolien M Kets, Machteld Keupers, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela N Kristensen, Torben A Kruse, Ava Kwong, Anne-Vibeke Lænkholm, Yael Laitman, Fiona Lalloo, Diether Lambrechts, Keren Landsman, Christine Lasset, Conxi Lazaro, Loic Le Marchand, Julie Lecarpentier, Andrew Lee, Eunjung Lee, Jong Won Lee, Min Hyuk Lee, Flavio Lejbkowicz, Fabienne Lesueur, Jingmei Li, Jenna Lilyquist, Anne Lincoln, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Jennifer T Loud, Jan Lubinski, Craig Luccarini, Michael Lush, Robert J MacInnis, Tom Maishman, Enes Makalic, Ivana Maleva Kostovska, Kathleen E Malone, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, John W M Martens, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, Sylvie Mazoyer, Catriona McLean, Hanne Meijers-Heijboer, Primitiva Menéndez, Jeffery Meyer, Hui Miao, Austin Miller, Nicola Miller, Gillian Mitchell, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Sue Nadesan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Dieter Niederacher, Sune F Nielsen, Børge G Nordestgaard, Aaron Norman, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, Kai-Ren Ong, Jan C Oosterwijk, Nick Orr, Ana Osorio, V Shane Pankratz, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Rachel Lloyd, Inge Søkilde Pedersen, Bernard Peissel, Ana Peixoto, Jose I A Perez, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Mila Pinchev, Dijana Plaseska-Karanfilska, Bruce Poppe, Mary E Porteous, Ross Prentice, Nadege Presneau, Darya Prokofieva, Elizabeth Pugh, Miquel Angel Pujana, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Kerstin Rhiem, Andrea Richardson, Gustavo C Rodriguez, Atocha Romero, Jane Romm, Matti A Rookus, Anja Rudolph, Thomas Ruediger, Emmanouil Saloustros, Joyce Sanders, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Lukas Schwentner, Christopher Scott, Rodney J Scott, Sheila Seal, Leigha Senter, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xin Sheng, Hermela Shimelis, Martha J Shrubsole, Xiao-Ou Shu, Lucy E Side, Christian F Singer, Christof Sohn, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Christa Stegmaier, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Harald Surowy, Christian Sutter, Anthony Swerdlow, Csilla I Szabo, Rulla M Tamimi, Yen Y Tan, Jack A Taylor, Maria-Isabel Tejada, Maria Tengström, Soo H Teo, Mary B Terry, Daniel C Tessier, Alex Teulé, Kathrin Thöne, Darcy L Thull, Maria Grazia Tibiletti, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Martine Tranchant, Thérèse Truong, Kathy Tucker, Nadine Tung, Jonathan Tyrer, Hans-Ulrich Ulmer, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Alessandra Viel, Joseph Vijai, Daniel Vincent, Jason Vollenweider, Lisa Walker, Zhaoming Wang, Shan Wang-Gohrke, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Jelle Wesseling, Alice S Whittemore, Juul T Wijnen, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Xiaohong R Yang, Drakoulis Yannoukakos, Daniela Zaffaroni, Wei Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Kristin K Zorn, Manuela Gago-Dominguez, Arto Mannermaa, Håkan Olsson, Manuel R Teixeira, Jennifer Stone, Kenneth Offit, Laura Ottini, Sue K Park, Mads Thomassen, Per Hall, Alfons Meindl, Rita K Schmutzler, Arnaud Droit, Gary D Bader, Paul D P Pharoah, Fergus J Couch, Douglas F Easton, Peter Kraft, Georgia Chenevix-Trench, Montserrat García-Closas, Marjanka K Schmidt, Antonis C Antoniou, Jacques Simard
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies...
October 23, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29041098/design-and-characterization-of-a-p-n-well-spad-array-in-150nm-cmos-process-erratum
#4
Hesong Xu, Lucio Pancheri, Gian-Franco Dalla Betta, David Stoppa
An erratum is presented to correct a reference mistake in Table 1 in Sect. 4 of [Opt. Express25, 12765 (2017)].
August 7, 2017: Optics Express
https://www.readbyqxmd.com/read/29018922/long-term-follow-up-of-retromuscular-incisional-hernia-repairs-recurrence-and-quality-of-life
#5
Peder Rogmark, Sam Smedberg, Agneta Montgomery
PURPOSE: Incisional hernia repair (IHR) with a mesh is necessary to achieve low recurrence rates and pain relief. In the short term, quality of life (QoL) is restored by IHR. Two centers pioneered the IHR in Sweden with the highly standardized Rives-Stoppa technique using a retromuscular mesh. We assessed long-term follow-up of recurrence rate and QoL. METHODS: Medical records were searched for IHRs performed from 1998 to 2006 and included living patients with midline repairs...
October 10, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28981872/telomere-length-atm-mutation-status-and-cancer-risk-in-ataxia-telangiectasia-families
#6
Anne-Laure Renault, Noura Mebirouk, Eve Cavaciuti, Dorothée Le Gal, Julie Lecarpentier, Catherine Dubois d'Enghien, Anthony Laugé, Marie-Gabrielle Dondon, Martine Labbé, Gaetan Lesca, Dominique Leroux, Laurence Gladieff, Claude Adenis, Laurence Faivre, Brigitte Gilbert-Dussardier, Alain Lortholary, Jean-Pierre Fricker, Karin Dahan, Jacques-Olivier Bay, Michel Longy, Bruno Buecher, Nicolas Janin, Hélène Zattara, Pascaline Berthet, Audrey Combès, Isabelle Coupier, Janet Hall, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
Recent studies have linked constitutive telomere length (TL) to aging-related diseases including cancer at different sites. ATM participates in the signaling of telomere erosion, and inherited mutations in ATM have been associated with increased risk of cancer, particularly breast cancer. The goal of this study was to investigate whether carriage of an ATM mutation and TL interplay to modify cancer risk in ataxia-telangiectasia (A-T) families.The study population consisted of 284 heterozygous ATM mutation carriers (HetAT) and 174 non-carriers (non-HetAT) from 103 A-T families...
October 1, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28975873/associations-between-asthma-and-sensitization-to-pet-or-pollen-allergens-in-young-swedish-twins-the-stoppa-study
#7
Cecilia Lindemalm, Björn Nordlund, Anne K Örtqvist, Cecilia Lundholm, Marianne van Hage, Tong Gong, Catarina Almqvist
BACKGROUND: An association between childhood asthma and IgE sensitization has been established, but our understanding of the genetic and environmental contribution to it is incomplete. Our aim was to estimate the associations and dose-response relationship between asthma and sensitization to airborne allergens in Swedish 9- to 14-year-old twins. Additionally, we aimed to explore the importance of familial confounding from shared genes and environment using co-twin controls. METHODS: In the STOPPA cohort, 752 same-sex twin children were screened with Phadiatop® (Thermo Fisher Scientific; Pharmacia, Uppsala, Sweden); if positive further analysis of IgE antibodies to airborne allergens of pets (cat, horse, dog), pollens (birch, timothy, mugwort), mites, and mold were performed...
October 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28954295/risk-of-serous-endometrial-carcinoma-in-women-with-pathogenic-brca1-2-variant-after-risk-reducing-salpingo-oophorectomy
#8
Claire Saule, Emmanuelle Mouret-Fourme, Adrien Briaux, Véronique Becette, Roman Rouzier, Claude Houdayer, Dominique Stoppa-Lyonnet
It has recently been shown that the risk of a rare subtype of endometrial carcinoma (serous type) in women carrying a germline BRCA1/2 pathogenic variant is increased. We assessed the incidence of serous endometrial carcinoma in an independent prospective cohort study of 369 BRCA1/2 women (1779 woman-years of follow-up) who underwent risk-reducing salpingo-oophorectomy by laparoscopy. This occurrence in two BRCA1 carriers led us to estimate that BRCA1/2 carriers present a higher risk than the control population (standardized incidence ratio = 32...
February 1, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28951640/minimally-invasive-plate-osteosynthesis-on-anterior-pelvic-ring-injury-and-anterior-column-acetabular-fracture
#9
Hadisoebroto Dilogo Ismail, Yoshi Pratama Djaja, Jessica Fiolin
INTRODUCTION: In performing surgery for fractures of the pelvis and acetabulum, various surgical approaches have been introduced with their own advantages and drawbacks. The extensile nature of ilioinguinal approach gives excellent exposure but was related to wound healing problems. Modified stoppa has a higher difficulty and poses a risk for neurovascular injury. In this study, we elaborate our experience using the Modified Stoppa approach with additional lateral window while adding few modifications to simplify the procedure and facilitate future implant removal...
July 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28930856/the-role-of-ultrasonography-in-examination-of-the-stability-of-tile-b2-pelvic-fractures-7-case-reports-and-a-literature-review
#10
REVIEW
Bin-Fei Zhang, Hong Zhang, Peng-Fei Wang, Hu Wang, Jin-Lai Lei, Ya-Hui Fu, Yu-Xuan Cong, Hai Huang, Xiao-Ming Huo, Yan Zhuang, Kun Zhang
BACKGROUND: Determining whether a Tile-B2 pelvic fracture is stable is very challenging. We sought to identify the role of ultrasonography in determining the stability of Tile-B2 pelvic fractures. METHODS: We collected the clinical data of patients with Tile-B2 pelvic fractures who presented at Xi'an Hong-Hui Hospital between June 1, 2016, and August 5, 2016. The treatment strategy of each patient was determined by a team of senior surgeons in the department. A single sinologist observed the movement of the fracture sites in patients during rest, under compression, and during separation to determine fracture stability...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28929593/efficacy-of-anthracycline-taxane-based-neo-adjuvant-chemotherapy-on-triple-negative-breast-cancer-in-brca1-brca2-mutation-carriers
#11
Lucie Bignon, Jean-Pierre Fricker, Catherine Nogues, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Olivier Caron, Alain Lortholary, Laurence Faivre, Christine Lasset, Veronique Mari, Paul Gesta, Laurence Gladieff, Akila Hamimi, Thierry Petit, Michel Velten
This study aims to estimate the pathologic complete response (pCR) rate after neo-adjuvant chemotherapy and to compare disease-free survival (DFS) and overall survival (OS) between pCR and non-pCR groups of patients with triple-negative breast cancer (TNBC) and deleterious BRCA1 or BRCA2 mutation. We carried out a retrospective analysis of 53 patients including 46 BRCA1, 6 BRCA2, and 1 combined BRCA1 and BRCA2 mutation. All patients had been diagnosed with triple-negative breast cancer (TNBC) between 1997 and 2014...
September 19, 2017: Breast Journal
https://www.readbyqxmd.com/read/28916979/ventral-hernia-repair-with-poly-4-hydroxybutyrate-mesh
#12
Margaret A Plymale, Daniel L Davenport, Adam Dugan, Amanda Zachem, John Scott Roth
BACKGROUND: Biomaterial research has made available a biologically derived fully resorbable poly-4-hydroxybutyrate (P4HB) mesh for use in ventral and incisional hernia repair (VIHR). This study evaluates outcomes of patients undergoing VIHR with P4HB mesh. METHODS: An IRB-approved prospective pilot study was conducted to assess clinical and quality of life (QOL) outcomes for patients undergoing VIHR with P4HB mesh. Perioperative characteristics were defined. Clinical outcomes, employment status, QOL using 12-item short form survey (SF-12), and pain assessments were followed for 24 months postoperatively...
September 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28915830/biological-effects-of-combined-resveratrol-and-vitamin-d3-on-ovarian-tissue
#13
Francesca Uberti, Vera Morsanuto, Silvio Aprile, Sabrina Ghirlanda, Ian Stoppa, Andrea Cochis, Giorgio Grosa, Lia Rimondini, Claudio Molinari
BACKGROUND: Resveratrol (3,5,4'-trihydroxy-trans-stilbene) is a natural antioxidant polyphenol able to exert a wide range of biological effect on several tissues. Despite its important beneficial properties, it has a low water solubility, which limits its therapeutic applications in humans. Resveratrol also acts as a phytoestrogen that modulates estrogen receptor (ER)-mediated transcription. In addition, it has been shown that ovarian tissues benefit greatly from vitamin D3, which exerts its beneficial effects through VDR receptors...
September 15, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28837157/biallelic-truncating-fancm-mutations-cause-early-onset-cancer-but-not-fanconi-anemia
#14
Massimo Bogliolo, Dominique Bluteau, James Lespinasse, Roser Pujol, Nadia Vasquez, Catherine Dubois d'Enghien, Dominique Stoppa-Lyonnet, Thierry Leblanc, Jean Soulier, Jordi Surrallés
PurposeMutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia (FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene. Here we report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer and toxicity to chemotherapy but did not present congenital malformations or any hematological phenotype suggestive of FA...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28819700/sporadic-endometrial-adenocarcinoma-with-mmr-deficiency-due-to-biallelic-msh2-somatic-mutations
#15
Bruno Buecher, Antoine De Pauw, Louis Bazire, Claude Houdayer, Alice Fievet, Virginie Moncoutier, Fereshteh Farkhondeh, Samia Melaabi, Dominique Stoppa Lyonnet, Lisa Golmard
The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigenetic silencing of MLH1 gene. It is also observed in virtually all tumors occurring in patients with Lynch syndrome by monoallelic germline mutation in one of the MMR genes. The determination of this phenotype (dMMR vs...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28808345/minimally-invasive-treatment-of-both-column-acetabular-fractures-through-the-stoppa-combined-with-iliac-fossa-approach
#16
Ruipeng Zhang, Yingchao Yin, Shilun Li, Zhiyong Hou, Juan Wang, Wei Chen, Yingze Zhang
Both-column fractures are the most complicated group of acetabular fractures. Although great progress of surgical technique has been made, the choice of approach is controversial. All the fragments could be exposed and managed through combined ilioinguinal and Kocher-Langenbeck (IL+KL) approaches, which has been widely used to conduct the both-column fractures. However, the clinical popularization may be restricted for high rate of complication. Most internal area of the hemipelvis could be exposed through Stoppa combined with iliac fossa (S+IF) approach...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28807416/phthalates-heavy-metals-and-pahs-in-an-overpopulated-coastal-region-inferences-from-abruzzo-central-italy
#17
Francesco Stoppa, Mariangela Schiazza, Jacopo Pellegrini, Francesco Antonio Ambrosio, Gianluigi Rosatelli, Maria R D'Orsogna
Phthalates are an emerging class of environmental pollutants whose distribution and effects in aquatic environments are not well characterized. We analyzed intertidal and emerged beach sediments from the Abruzzo coastline, along the Adriatic Sea, finding significant phthalate concentrations in marine sediments. Phthalate baseline levels in the intertidal environment, marked by substantial interplay of sediment, water and air, were determined. We used statistical rank methods to select representative phthalate compositions, for which we derived risk levels for ingestion, dermal absorption and inhalation...
August 12, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28770534/antidepressant-induced-acute-liver-injury-a-case-control-study-in-an-italian-inpatient-population
#18
Carmen Ferrajolo, Cristina Scavone, Monia Donati, Oscar Bortolami, Giovanna Stoppa, Domenico Motola, Alfredo Vannacci, Alessandro Mugelli, Roberto Leone, Annalisa Capuano
INTRODUCTION: Pre-marketing clinical trials show that antidepressant-induced liver injury seems to be a rare adverse event. Because of short follow-up trial duration, the incidence of liver injury due to antidepressant use could be underestimated. OBJECTIVES: We aimed to quantify the risk of acute liver injury associated with antidepressant use through a case-control analysis among an inpatient population. METHODS: A multicenter study was carried out in nine Italian hospitals from October 2010 to January 2014, within the DILI-IT (Drug-Induced Liver Injury in Italy) study project...
August 2, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28751562/impact-of-prior-therapy-on-the-efficacy-and-safety-of-oral-ixazomib-lenalidomide-dexamethasone-vs-placebo-lenalidomide-dexamethasone-in-patients-with-relapsed-refractory-multiple-myeloma-in-tourmaline-mm1
#19
María-Victoria Mateos, Tamas Masszi, Norbert Grzasko, Markus Hansson, Irwindeep Sandhu, Ludek Pour, Luísa Viterbo, Sharon R Jackson, Anne-Marie Stoppa, Peter Gimsing, Mehdi Hamadani, Gabriela Borsaru, Deborah Berg, Jianchang Lin, Alessandra Di Bacco, Helgi van de Velde, Paul G Richardson, Philippe Moreau
Prior treatment exposure in patients with relapsed/refractory multiple myeloma may affect outcomes with subsequent therapies. We analyzed efficacy and safety according to prior treatment in the phase 3 TOURMALINE-MM1 study of ixazomib-lenalidomide-dexamethasone (ixazomib-Rd) versus placebo-Rd. Patients with relapsed/refractory multiple myeloma received ixazomib-Rd or placebo-Rd. Efficacy and safety were evaluated in subgroups defined according to type (proteasome inhibitor [PI] and immunomodulatory drug) and number (1 vs...
October 2017: Haematologica
https://www.readbyqxmd.com/read/28727632/a-prospective-randomized-controlled-trial-comparing-quality-of-life-following-endoscopic-totally-extraperitoneal-tep-versus-open-stoppa-inguinal-hernioplasty
#20
Jitendra K Kushwaha, Loreno E Enny, Akshay Anand, Abhinav A Sonkar, Awanish Kumar, Harvinder S Pahwa
In inguinal hernia surgery, quality of life (QOL) has emerged as a striking issue. Evidence suggests better QOL of patients operated with laparoscopic procedure as compared with open anterior hernia repairs. However data are scarce with relation to open posterior repair in terms of QOL issues. A prospective randomized single-blind study from November 2014 to October 2015 including all patients who underwent elective primary endoscopic [totally extraperitoneal (TEP)] or open Stoppa inguinal hernia repair was undertaken...
August 2017: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
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