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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29142027/underestimation-of-risk-of-carotid-subclinical-atherosclerosis-by-cardiovascular-risk-scores-in-patients-with-psoriatic-arthritis
#2
Jiayun Shen, Steven H Lam, Qing Shang, Chun-Kwok Wong, Edmund K Li, Priscilla Wong, Emily W Kun, Isaac T Cheng, Martin Li, Tena K Li, Tracy Y Zhu, Jack Jock-Wai Lee, Mimi Chang, Alex Pui-Wai Lee, Lai-Shan Tam
OBJECTIVE: To test the performances of established cardiovascular (CV) risk scores in discriminating subclinical atherosclerosis (SCA) in patients with psoriatic arthritis. METHODS: These scores were calculated: Framingham risk score (FRS), QRISK2, Systematic COronary Risk Evaluation (SCORE), 10-year atherosclerotic cardiovascular disease risk algorithm (ASCVD) from the American College of Cardiology and the American Heart Association, and the European League Against Rheumatism (EULAR)-recommended modified versions (by 1...
November 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/29135799/peripapillary-pachychoroid-syndrome
#3
Nopasak Phasukkijwatana, K Bailey Freund, Rosa Dolz-Marco, Mayss Al-Sheikh, Pearse A Keane, Catherine A Egan, Sandeep Randhawa, Jay M Stewart, Qingyun Liu, Alex P Hunyor, Allan Kreiger, Aaron Nagiel, Robert Lalane, Mansour Rahimi, Won Ki Lee, Lee Merrill Jampol, David Sarraf
PURPOSE: To describe the features of peripapillary pachychoroid syndrome (PPS), a novel pachychoroid disease spectrum (PDS) entity. METHODS: Medical records of 31 eyes (16 patients) with choroidal thickening associated with intraretinal and/or subretinal fluid in the nasal macula extending from the disk were reviewed (patients with PPS). Choroidal thickness was compared with 2 age-matched cohorts: typical PDS (17 eyes with central serous chorioretinopathy or pachychoroid neovasculopathy) and 19 normal eyes...
November 10, 2017: Retina
https://www.readbyqxmd.com/read/29135795/families-and-the-juvenile-justice-system-considerations-for-family-based-interventions
#4
Bita Amani, Norweeta G Milburn, Susana Lopez, Angela Young-Brinn, Lourdes Castro, Alex Lee, Eraka Bath
We conducted focus groups with defense lawyers, clinicians, and education advocates to gather their perspectives on families' experiences with the juvenile justice system. Our quantitative descriptive analysis identified a range of themes such as discussions about the poor treatment of families as well as recommendations for a shifting of power to families. These perspectives may provide insights about the context in which families are expected to participate in interventions, meet probationary demands, and provide for their youth's well-being...
January 2018: Family & Community Health
https://www.readbyqxmd.com/read/29134691/direct-probing-of-polarization-charge-at-nanoscale-level
#5
Owoong Kwon, Daehee Seol, Dongkyu Lee, Hee Han, Ionela Lindfors-Vrejoiu, Woo Lee, Stephen Jesse, Ho Nyung Lee, Sergei V Kalinin, Marin Alexe, Yunseok Kim
Ferroelectric materials possess spontaneous polarization that can be used for multiple applications. Owing to a long-term development of reducing the sizes of devices, the preparation of ferroelectric materials and devices is entering the nanometer-scale regime. Accordingly, to evaluate the ferroelectricity, there is a need to investigate the polarization charge at the nanoscale. Nonetheless, it is generally accepted that the detection of polarization charges using a conventional conductive atomic force microscopy (CAFM) without a top electrode is not feasible because the nanometer-scale radius of an atomic force microscopy (AFM) tip yields a very low signal-to-noise ratio...
November 14, 2017: Advanced Materials
https://www.readbyqxmd.com/read/29120638/discovery-and-optimization-of-potent-cell-active-pyrazole-based-inhibitors-of-lactate-dehydrogenase-ldh
#6
Ganesha Rai, Kyle R Brimacombe, Bryan T Mott, Daniel J Urban, Xin Hu, Shyh-Ming Yang, Tobie D Lee, Dorian M Cheff, Jennifer Kouznetsova, Gloria A Benavides, Katie Pohida, Eric J Kuenstner, Diane K Luci, Christine M Lukacs, Douglas R Davies, David M Dranow, Hu Zhu, Gary Sulikowski, William J Moore, Gordon M Stott, Andrew J Flint, Matthew D Hall, Victor M Darley-Usmar, Leonard M Neckers, Chi V Dang, Alex G Waterson, Anton Simeonov, Ajit Jadhav, David J Maloney
We report the discovery and medicinal chemistry optimization of a novel series of pyrazole-based inhibitors of human lactate dehydrogenase (LDH). Utilization of a quantitative high-throughput screening paradigm facilitated hit identification, while structure-based design and multiparameter optimization enabled the development of compounds with potent enzymatic and cell-based inhibition of LDH enzymatic activity. Lead compounds such as 63 exhibit low nM inhibition of both LDHA and LDHB, submicromolar inhibition of lactate production, and inhibition of glycolysis in MiaPaCa2 pancreatic cancer and A673 sarcoma cells...
November 9, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29119455/ct-brain-artefact-due-to-air-bubbles-in-the-oil-cooling-system-characteristic-band-like-configuration-on-sagittal-reformatted-image
#7
Simon Sin Man Wong, James Siu Wai Cheung, Tom Wai Kin Lee, Chris Siu Chun Tsai, Alex Wing Hung Ng
PURPOSE: To retrospectively review the imaging characteristics of CT artefacts due to air bubbles within the oil cooling system of the X-ray tube housing. MATERIALS AND METHODS: Air bubbles were introduced into the oil cooling system of the X-ray tube housing during tube replacement in one of the CT scanners in the authors' institution. All 126 CT brain studies performed in this period were retrospectively reviewed. One hundred and four studies were negative for artefacts...
November 8, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/29118096/the-sgc-beyond-structural-genomics-redefining-the-role-of-3d-structures-by-coupling-genomic-stratification-with-fragment-based-discovery
#8
REVIEW
Anthony R Bradley, Aude Echalier, Michael Fairhead, Claire Strain-Damerell, Paul Brennan, Alex N Bullock, Nicola A Burgess-Brown, Elisabeth P Carpenter, Opher Gileadi, Brian D Marsden, Wen Hwa Lee, Wyatt Yue, Chas Bountra, Frank von Delft
The ongoing explosion in genomics data has long since outpaced the capacity of conventional biochemical methodology to verify the large number of hypotheses that emerge from the analysis of such data. In contrast, it is still a gold-standard for early phenotypic validation towards small-molecule drug discovery to use probe molecules (or tool compounds), notwithstanding the difficulty and cost of generating them. Rational structure-based approaches to ligand discovery have long promised the efficiencies needed to close this divergence; in practice, however, this promise remains largely unfulfilled, for a host of well-rehearsed reasons and despite the huge technical advances spearheaded by the structural genomics initiatives of the noughties...
November 8, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/29113349/the-role-of-egfr-double-minutes-in-modulating-the-response-of-malignant-gliomas-to-radiotherapy
#9
Yi-Hong Zhou, Yumay Chen, Yuanjie Hu, Liping Yu, Katherine Tran, Erich Giedzinski, Ning Ru, Alex Gau, Francine Pan, Jiao Qiao, Naomi Atkin, Khang Chi Ly, Nathan Lee, Eric R Siegel, Mark E Linskey, Ping Wang, Charles Limoli
EGFR amplification in cells having double minute chromosomes (DM) is commonly found in glioblastoma multiforme (GBM); however, how much it contributes to the current failure to treat GBM successfully is unknown. We studied two syngeneic primary cultures derived from a GBM with and without cells carrying DM, for their differential molecular and metabolic profiles, in vivo growth patterns, and responses to irradiation (IR). Each cell line has a distinct molecular profile consistent with an invasive "go" (with DM) or angiogenic "grow" phenotype (without DM) demonstrated in vitro and in intracranial xenograft models...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29108121/hepatitis-c-and-human-immunodeficiency-virus-co-infection-in-the-era-of-direct-acting-antiviral-agents-no-longer-a-difficult-to-treat-population
#10
Cameron Sikavi, Phillip H Chen, Alex D Lee, Elena G Saab, Gina Choi, Sammy Saab
BACKGROUND: The treatment of chronic hepatitis C (HCV) in human immunodeficiency virus 1 (HIV) infected individuals has been historically marked by low sustained virologic response (SVR) rates in comparison to those without HIV infection, resulting in the Food and Drug Administration (FDA) labeling those coinfected as a "special population with an unmet medical need." OBJECTIVES: We systematically reviewed the treatment of chronic HCV infection in those infected with HIV...
November 6, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29103923/artemether-does-not-turn-%C3%AE-cells-into-%C3%AE-cells
#11
Talitha van der Meulen, Sharon Lee, Els Noordeloos, Cynthia J Donaldson, Michael W Adams, Glyn M Noguchi, Alex M Mawla, Mark O Huising
Pancreatic α cells retain considerable plasticity and can, under the right circumstances, transdifferentiate into functionally mature β cells. In search of a targetable mechanistic basis, a recent paper suggested that the widely used anti-malaria drug artemether suppresses the α cell transcription factor Arx to promote transdifferentiation into β cells. However, key initial experiments in this paper were carried out in islet cell lines, and most subsequent validation experiments implied transdifferentiation without direct demonstration of α to β cell conversion...
November 1, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/29096718/stress-amplifies-sex-differences-in-primate-prefrontal-profiles-of-gene-expression
#12
Alex G Lee, Megan Hagenauer, Devin Absher, Kathleen E Morrison, Tracy L Bale, Richard M Myers, Stanley J Watson, Huda Akil, Alan F Schatzberg, David M Lyons
BACKGROUND: Stress is a recognized risk factor for mood and anxiety disorders that occur more often in women than men. Prefrontal brain regions mediate stress coping, cognitive control, and emotion. Here, we investigate sex differences and stress effects on prefrontal cortical profiles of gene expression in squirrel monkey adults. METHODS: Dorsolateral, ventrolateral, and ventromedial prefrontal cortical regions from 18 females and 12 males were collected after stress or no-stress treatment conditions...
November 2, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/29095980/pedigreejs-a-web-based-graphical-pedigree-editor
#13
Tim Carver, Alex P Cunningham, Chantal Babb de Villiers, Andrew Lee, Simon Hartley, Marc Tischkowitz, Fiona M Walter, Douglas F Easton, Antonis C Antoniou
Motivation: The collection, management and visualisation of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they are time consuming to capture, and can be difficult to build, manipulate and visualise graphically. Several standalone graphical pedigree editors and drawing applications exist but there are no freely available lightweight graphical pedigree editors that can be easily configured and incorporated into web applications...
October 31, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29093271/combined-inhibition-of-atypical-pkc-and-histone-deacetylase-1-is-cooperative-in-basal-cell-carcinoma-treatment
#14
Amar N Mirza, Micah A Fry, Nicole M Urman, Scott X Atwood, Jon Roffey, Gregory R Ott, Bin Chen, Alex Lee, Alexander S Brown, Sumaira Z Aasi, Tyler Hollmig, Mark A Ator, Bruce D Dorsey, Bruce R Ruggeri, Craig A Zificsak, Marina Sirota, Jean Y Tang, Atul Butte, Ervin Epstein, Kavita Y Sarin, Anthony E Oro
Advanced basal cell carcinomas (BCCs) circumvent Smoothened (SMO) inhibition by activating GLI transcription factors to sustain the high levels of Hedgehog (HH) signaling required for their survival. Unfortunately, there is a lack of efficacious therapies. We performed a gene expression-based drug repositioning screen in silico and identified the FDA-approved histone deacetylase (HDAC) inhibitor, vorinostat, as a top therapeutic candidate. We show that vorinostat only inhibits proliferation of BCC cells in vitro and BCC allografts in vivo at high dose, limiting its usefulness as a monotherapy...
November 2, 2017: JCI Insight
https://www.readbyqxmd.com/read/29062027/harnessing-a-catalytic-lysine-residue-for-the-one-step-preparation-of-homogeneous-antibody-drug-conjugates
#15
Alex R Nanna, Xiuling Li, Even Walseng, Lee Pedzisa, Rebecca S Goydel, David Hymel, Terrence R Burke, William R Roush, Christoph Rader
Current strategies to produce homogeneous antibody-drug conjugates (ADCs) rely on mutations or inefficient conjugation chemistries. Here we present a strategy to produce site-specific ADCs using a highly reactive natural buried lysine embedded in a dual variable domain (DVD) format. This approach is mutation free and drug conjugation proceeds rapidly at neutral pH in a single step without removing any charges. The conjugation chemistry is highly robust, enabling the use of crude DVD for ADC preparation. In addition, this strategy affords the ability to precisely monitor the efficiency of drug conjugation with a catalytic assay...
October 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/29061535/pharmacodynamic-monitoring-predicts-outcomes-of-ccr5-blockade-as-gvhd-prophylaxis
#16
Austin P Huffman, Lee P Richman, Lisa Crisalli, Alex Ganetsky, David L Porter, Robert H Vonderheide, Ran Reshef
Blocking lymphocyte trafficking after allogeneic hematopoietic stem cell transplantation is a promising strategy to prevent graft-versus-host disease (GVHD) while preserving the graft-versus-tumor response. Maraviroc, a CCR5 antagonist, has shown promise in clinical trials, presumably by disrupting the migration of effector cells to GVHD target organs. We describe a phosphoflow assay to quantify CCR5 blockade during treatment with maraviroc and used it to evaluate 28 patients in a phase II study. We found that insufficient blockade of CCR5 was associated with significantly worse overall survival (HR=10...
October 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29059262/quantifying-microvascular-abnormalities-with-increasing-severity-of-diabetic-retinopathy-using-optical-coherence-tomography-angiography
#17
Peter L Nesper, Philipp K Roberts, Alex C Onishi, Haitao Chai, Lei Liu, Lee M Jampol, Amani A Fawzi
Purpose: We quantified retinal and choriocapillaris microvascular changes in healthy control eyes and different stages of diabetic retinopathy (DR) using optical coherence tomography angiography (OCTA). Methods: This retrospective cross-sectional study included 137 eyes of 86 patients with different stages of DR and 44 eyes of 26 healthy age-matched controls. Participants were imaged with a commercial OCTA device (RTVue-XR Avanti). We analyzed the superficial (SCP) and deep (DCP) retinal capillary plexus, the full retina, and choriocapillaris for the following OCTA parameters: foveal avascular zone, vessel density, percent area of nonperfusion (PAN), and adjusted flow index (AFI)...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29058716/identification-of-ten-variants-associated-with-risk-of-estrogen-receptor-negative-breast-cancer
#18
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/29046434/aristolochic-acids-and-their-derivatives-are-widely-implicated-in-liver-cancers-in-taiwan-and-throughout-asia
#19
Alvin W T Ng, Song Ling Poon, Mi Ni Huang, Jing Quan Lim, Arnoud Boot, Willie Yu, Yuka Suzuki, Saranya Thangaraju, Cedric C Y Ng, Patrick Tan, See-Tong Pang, Hao-Yi Huang, Ming-Chin Yu, Po-Huang Lee, Sen-Yung Hsieh, Alex Y Chang, Bin T Teh, Steven G Rozen
Many traditional pharmacopeias include Aristolochia and related plants, which contain nephrotoxins and mutagens in the form of aristolochic acids and similar compounds (collectively, AA). AA is implicated in multiple cancer types, sometimes with very high mutational burdens, especially in upper tract urothelial cancers (UTUCs). AA-associated kidney failure and UTUCs are prevalent in Taiwan, but AA's role in hepatocellular carcinomas (HCCs) there remains unexplored. Therefore, we sequenced the whole exomes of 98 HCCs from two hospitals in Taiwan and found that 78% showed the distinctive mutational signature of AA exposure, accounting for most of the nonsilent mutations in known cancer driver genes...
October 18, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29035626/performance-evaluation-of-poly-urethane-foam-packed-bed-chemical-scrubber-for-the-oxidative-absorption-of-nh3-and-h2s-gases
#20
Grace M Nisola, Kris Niño G Valdehuesa, Alex V Anonas, Kristine Rose M Ramos, Won-Keun Lee, Wook-Jin Chung
The feasibility of open-pore polyurethane (PU) foam as packing material for wet chemical scrubber was tested for NH3 and H2S removals. The foam is inexpensive, light-weight, highly porous (low pressure drop) and provides large surface area per unit volume, which are desirable properties for enhanced gas/liquid mass transfer. Conventional HCl/HOCl (for NH3) and NaOH/NaOCl (for H2S) scrubbing solutions were used to absorb and oxidize the gases. Assessment of the wet chemical scrubbers reveals that pH and ORP levels are important to maintain the gas removal efficiencies >95%...
October 16, 2017: Journal of Environmental Science and Health. Part A, Toxic/hazardous Substances & Environmental Engineering
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