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https://www.readbyqxmd.com/read/28628784/identifying-populations-sensitive-to-environmental-chemicals-by-simulating-toxicokinetic-variability
#1
Caroline L Ring, Robert G Pearce, R Woodrow Setzer, Barbara A Wetmore, John F Wambaugh
The thousands of chemicals present in the environment (USGAO, 2013) must be triaged to identify priority chemicals for human health risk research. Most chemicals have little of the toxicokinetic (TK) data that are necessary for relating exposures to tissue concentrations that are believed to be toxic. Ongoing efforts have collected limited, in vitro TK data for a few hundred chemicals. These data have been combined with biomonitoring data to estimate an approximate margin between potential hazard and exposure...
June 16, 2017: Environment International
https://www.readbyqxmd.com/read/28626918/marinesco-bodies-and-substantia-nigra-neuron-density-in-parkinson-s-disease
#2
Robert D Abbott, James S Nelson, G Webster Ross, Jane H Uyehara-Lock, Caroline M Tanner, Kamal H Masaki, Lenore J Launer, Lon R White, Helen Petrovitch
AIM: Marinesco bodies (MB) are intranuclear inclusions in pigmented neurons of the substantia nigra (SN). While rare in children, frequency increases with normal aging and is high in Alzheimer's disease, dementia with Lewy bodies, and other neurodegenerative disorders. Coinciding with the age-related rise in MB frequency is initiation of cell death among SN neurons. Whether MB have a role in this process is unknown. Our aim is to examine the association of MB with SN neuron density in Parkinson's disease (PD) in the Honolulu-Asia Aging Study...
June 19, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28625807/evidence-for-altered-levels-of-immunoglobulin-d-in-the-nasal-airway-mucosa-of-patients-with-chronic-rhinosinusitis
#3
Jin-Young Min, Jayakar V Nayak, Kathryn E Hulse, Whitney W Stevens, Paul A Raju, Julia H Huang, Lydia A Suh, Griet A Van Roey, James E Norton, Roderick G Carter, Caroline P E Price, Ava R Weibman, Ali R Rashan, Eliver E Ghosn, Zara M Patel, Tetsuya Homma, David B Conley, Kevin C Welch, Stephanie Shintani-Smith, Anju T Peters, Leslie C Grammer, Kathleen E Harris, Atsushi Kato, Peter H Hwang, Robert C Kern, Leonore A Herzenberg, Robert P Schleimer, Bruce K Tan
BACKGROUND: Immunoglobulin D (IgD) is an enigmatic antibody isotype best known when co-expressed with IgM on naïve B cells. However, elevated soluble IgD (sIgD) and increased IgD(+)IgM(-) B cell populations have been described in the human upper respiratory mucosa. OBJECTIVE: We assessed whether levels of sIgD and IgD(+) B cells are altered in nasal tissue from patients with chronic rhinosinusitis (CRS). We further characterized IgD(+) B cell populations and explored clinical and local inflammatory factors associated with tissue sIgD levels...
June 15, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28624615/cell-size-dependent-transcription-of-flc-and-its-antisense-long-non-coding-rna-coolair-explain-cell-to-cell-expression-variation
#4
Robert Ietswaart, Stefanie Rosa, Zhe Wu, Caroline Dean, Martin Howard
Single-cell quantification of transcription kinetics and variability promotes a mechanistic understanding of gene regulation. Here, using single-molecule RNA fluorescence in situ hybridization and mathematical modeling, we dissect cellular RNA dynamics for Arabidopsis FLOWERING LOCUS C (FLC). FLC expression quantitatively determines flowering time and is regulated by antisense (COOLAIR) transcription. In cells without observable COOLAIR expression, we quantify FLC transcription initiation, elongation, intron processing, and lariat degradation, as well as mRNA release from the locus and degradation...
June 8, 2017: Cell Systems
https://www.readbyqxmd.com/read/28619957/chronic-pulmonary-aspergillosis-complicating-sarcoidosis
#5
Yurdagül Uzunhan, Hilario Nunes, Florence Jeny, Maxime Lacroix, Sophie Brun, Pierre-Yves Brillet, Emmanuel Martinod, Marie-France Carette, Diane Bouvry, Caroline Charlier, Fanny Lanternier, Carole Planès, Abdellatif Tazi, Olivier Lortholary, Robert P Baughman, Dominique Valeyre
Chronic pulmonary aspergillosis (CPA) complicating sarcoidosis (SA) is associated with high mortality, and there is a lack of clarity regarding the relative contributions of SA or CPA.This was a retrospective single-centre study on CPA-SA.In total, 65 patients (44 men), aged 41.4±13.5 and 48.3±11.9 years at the time of SA and CPA diagnoses, respectively, were included between 1980 and 2015. Of these, 64 had fibrocystic SA, most often advanced, with composite physiological index (CPI) >40 (65% of patients) and pulmonary hypertension (PH) (31%), and 41 patients (63%) were treated for SA (corticosteroids or immunosuppressive drugs)...
June 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28611198/phase-i-dose-escalation-and-expansion-study-of-the-braf-inhibitor-encorafenib-lgx818-in-metastatic-braf-mutant-melanoma
#6
Jean-Pierre Delord, Caroline Robert, Marta Nyakas, Grant A McArthur, Ragini Kudchakar, Amit Mahipal, Yasuhide Yamada, Ryan J Sullivan, Ana Arance, Richard F Kefford, Matteo S Carlino, Manuel Hidalgo, Carlos Gomez-Roca, Daniela Michel, Abdelkader Seroutou, Vassilios Aslanis, Giordano Caponigro, Darrin Stuart, Laure Moutouh-de Parseval, Tim Demuth, Reinhard Dummer
Purpose: Encorafenib, a selective BRAF-inhibitor (BRAFi), has a pharmacological profile that is distinct from that of other clinically active BRAFis. We evaluated encorafenib in a phase I study in patients with BRAFi treatment-naive and pretreated BRAF-mutant melanoma. <p>Experimental Design: The pharmacological activity of encorafenib was first characterized preclinically. Encorafenib monotherapy was then tested across a range of once-daily (QD; 50-700mg) or twice-daily (75-150mg) regimens in a phase I, open-label, dose-escalation and -expansion study in adult patients with histologically confirmed advanced/metastatic BRAF-mutant melanoma...
June 13, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28609321/change-in-lung-volume-following-thoracoscopic-anterior-spinal-fusion-surgery-a-3-dimensional-computed-tomography-investigation
#7
Caroline G Yu, Caroline A Grant, Maree T Izatt, Robert D Labrom, Geoffrey N Askin, Clayton J Adam, J Paige Little
STUDY DESIGN: Lung volumes and thoracic anatomy were measured from low-dose computed tomography (CT) scans preoperatively and 2 years following thoracoscopic anterior spinal fusion (TASF) for adolescent idiopathic scoliosis (AIS). OBJECTIVE: The aim of this study was to assess changes in lung volume after TASF surgical correction. SUMMARY OF BACKGROUND DATA: AIS patients are known to have decreased pulmonary function as a consequence of their spinal and ribcage deformity...
June 15, 2017: Spine
https://www.readbyqxmd.com/read/28604926/ads-5102-amantadine-extended-release-capsules-for-levodopa-induced-dyskinesia-in-parkinson-disease-ease-lid-study-a-randomized-clinical-trial
#8
Rajesh Pahwa, Caroline M Tanner, Robert A Hauser, Stuart H Isaacson, Paul A Nausieda, Daniel D Truong, Pinky Agarwal, Keith L Hull, Kelly E Lyons, Reed Johnson, Mary Jean Stempien
Importance: Medical treatment of levodopa-induced dyskinesia (LID) in Parkinson disease (PD) is an unmet need. Objective: To evaluate the efficacy and safety of ADS-5102 (amantadine) extended-release 274-mg capsules for treatment of LID in patients with PD. Design, Setting, and Participants: A randomized, double-blind, placebo-controlled clinical trial was conducted between May 7, 2014, and July 22, 2015, at 44 North American sites among patients with PD treated with levodopa who experienced at least 1 hour of troublesome dyskinesia per day with at least mild functional impact...
June 12, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28604265/a-multi-professional-educational-intervention-to-improve-and-sustain-respondents-confidence-to-deliver-palliative-care-a-mixed-methods-study
#9
Elizabeth Reed, Jennifer Todd, Sally Lawton, Robert Grant, Clair Sadler, Jane Berg, Caroline Lucas, Max Watson
BACKGROUND: Education has been highlighted as fundamental in equipping healthcare professionals with essential knowledge and skills to provide good end-of-life care. Multiprofessional educational programmes have a positive influence on knowledge, attitude and confidence but few have sought to understand the longer term impact on care delivery. The European Certificate in Essential Palliative Care is an 8-week home-study-based programme for healthcare professionals and is currently run in nine centres...
June 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/28597400/gynecologic-oncologists-attitudes-and-practices-relating-to-integrative-medicine-results-of-a-nationwide-ago-survey
#10
Evelyn Klein, Matthias W Beckmann, Werner Bader, Cosima Brucker, Gustav Dobos, Dorothea Fischer, Volker Hanf, Annette Hasenburg, Sebastian M Jud, Matthias Kalder, Marion Kiechle, Sherko Kümmel, Andreas Müller, Myrjam-Alice T Müller, Daniela Paepke, Andre-Robert Rotmann, Florian Schütz, Anton Scharl, Petra Voiss, Markus Wallwiener, Claudia Witt, Carolin C Hack
PURPOSE: The growing popularity and acceptance of integrative medicine is evident both among patients and among the oncologists treating them. As little data are available regarding health-care professionals' knowledge, attitudes, and practices relating to the topic, a nationwide online survey was designed. METHODS: Over a period of 11 weeks (from July 15 to September 30, 2014) a self-administered, 17-item online survey was sent to all 676 members of the Research Group on Gynecological Oncology (Arbeitsgemeinschaft Gynäkologische Onkologie) in the German Cancer Society...
June 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28594918/obesity-metabolic-factors-and-risk-of-different-histological-types-of-lung-cancer-a-mendelian-randomization-study
#11
Robert Carreras-Torres, Mattias Johansson, Philip C Haycock, Kaitlin H Wade, Caroline L Relton, Richard M Martin, George Davey Smith, Demetrius Albanes, Melinda C Aldrich, Angeline Andrew, Susanne M Arnold, Heike Bickeböller, Stig E Bojesen, Hans Brunnström, Jonas Manjer, Irene Brüske, Neil E Caporaso, Chu Chen, David C Christiani, W Jay Christian, Jennifer A Doherty, Eric J Duell, John K Field, Michael P A Davies, Michael W Marcus, Gary E Goodman, Kjell Grankvist, Aage Haugen, Yun-Chul Hong, Lambertus A Kiemeney, Erik H F M van der Heijden, Peter Kraft, Mikael B Johansson, Stephen Lam, Maria Teresa Landi, Philip Lazarus, Loïc Le Marchand, Geoffrey Liu, Olle Melander, Sungshim L Park, Gad Rennert, Angela Risch, Eric B Haura, Ghislaine Scelo, David Zaridze, Anush Mukeriya, Milan Savić, Jolanta Lissowska, Beata Swiatkowska, Vladimir Janout, Ivana Holcatova, Dana Mates, Matthew B Schabath, Hongbing Shen, Adonina Tardon, M Dawn Teare, Penella Woll, Ming-Sound Tsao, Xifeng Wu, Jian-Min Yuan, Rayjean J Hung, Christopher I Amos, James McKay, Paul Brennan
BACKGROUND: Assessing the relationship between lung cancer and metabolic conditions is challenging because of the confounding effect of tobacco. Mendelian randomization (MR), or the use of genetic instrumental variables to assess causality, may help to identify the metabolic drivers of lung cancer. METHODS AND FINDINGS: We identified genetic instruments for potential metabolic risk factors and evaluated these in relation to risk using 29,266 lung cancer cases (including 11,273 adenocarcinomas, 7,426 squamous cell and 2,664 small cell cases) and 56,450 controls...
2017: PloS One
https://www.readbyqxmd.com/read/28592387/dabrafenib-plus-trametinib-in-patients-with-braf-v600-mutant-melanoma-brain-metastases-combi-mb-a-multicentre-multicohort-open-label-phase-2-trial
#12
Michael A Davies, Philippe Saiag, Caroline Robert, Jean-Jacques Grob, Keith T Flaherty, Ana Arance, Vanna Chiarion-Sileni, Luc Thomas, Thierry Lesimple, Laurent Mortier, Stergios J Moschos, David Hogg, Iván Márquez-Rodas, Michele Del Vecchio, Céleste Lebbé, Nicolas Meyer, Ying Zhang, Yingjie Huang, Bijoyesh Mookerjee, Georgina V Long
BACKGROUND: Dabrafenib plus trametinib improves clinical outcomes in BRAF(V600)-mutant metastatic melanoma without brain metastases; however, the activity of dabrafenib plus trametinib has not been studied in active melanoma brain metastases. Here, we report results from the phase 2 COMBI-MB trial. Our aim was to build on the current body of evidence of targeted therapy in melanoma brain metastases through an evaluation of dabrafenib plus trametinib in patients with BRAF(V600)-mutant melanoma brain metastases...
June 2, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28591196/trajectories-of-dementia-related-cognitive-decline-in-a-large-mental-health-records-derived-patient-cohort
#13
Elizabeth Baker, Ehtesham Iqbal, Caroline Johnston, Matthew Broadbent, Hitesh Shetty, Robert Stewart, Robert Howard, Stephen Newhouse, Mizanur Khondoker, Richard J B Dobson
BACKGROUND: Modeling trajectories of decline can help describe the variability in progression of cognitive impairment in dementia. Better characterisation of these trajectories has significant implications for understanding disease progression, trial design and care planning. METHODS: Patients with at least three Mini-mental State Examination (MMSE) scores recorded in the South London and Maudsley NHS Foundation Trust Electronic Health Records, UK were selected (N = 3441) to form a retrospective cohort...
2017: PloS One
https://www.readbyqxmd.com/read/28574190/flow-aligned-single-shot-fiber-diffraction-using-a-femtosecond-x-ray-free-electron-laser
#14
David Popp, N Duane Loh, Habiba Zorgati, Umesh Ghoshdastider, Lu Ting Liow, Magdalena I Ivanova, Mårten Larsson, Daniel P DePonte, Richard Bean, Kenneth R Beyerlein, Cornelius Gati, Dominik Oberthuer, David Arnlund, Gisela Brändén, Peter Berntsen, Duilio Cascio, Leonard M G Chavas, Joe P J Chen, Ke Ding, Holger Fleckenstein, Lars Gumprecht, Rajiv Harimoorthy, Estelle Mossou, Michael R Sawaya, Aaron S Brewster, Johan Hattne, Nicholas K Sauter, Marvin Seibert, Carolin Seuring, Francesco Stellato, Thomas Tilp, David S Eisenberg, Marc Messerschmidt, Garth J Williams, Jason E Koglin, Lee Makowski, Rick P Millane, Trevor Forsyth, Sébastien Boutet, Thomas A White, Anton Barty, Henry Chapman, Swaine L Chen, Mengning Liang, Richard Neutze, Robert C Robinson
A major goal for X-ray free-electron laser (XFEL) based science is to elucidate structures of biological molecules without the need for crystals. Filament systems may provide some of the first single macromolecular structures elucidated by XFEL radiation, since they contain one-dimensional translational symmetry and thereby occupy the diffraction intensity region between the extremes of crystals and single molecules. Here, we demonstrate flow alignment of as few as 100 filaments (Escherichia coli pili, F-actin, and amyloid fibrils), which when intersected by femtosecond X-ray pulses result in diffraction patterns similar to those obtained from classical fiber diffraction studies...
June 2, 2017: Cytoskeleton
https://www.readbyqxmd.com/read/28571569/erratum-to-acupuncture-to-improve-live-birth-rates-for-women-undergoing-in-vitro-fertilization-a-protocol-for-a-randomized-controlled-trial
#15
Caroline A Smith, Sheryl de Lacey, Michael Chapman, Julie Ratcliffe, Robert J Norman, Neil Johnson, Gavin Sacks, Jane Lyttleton, Clare Boothroyd
No abstract text is available yet for this article.
June 1, 2017: Trials
https://www.readbyqxmd.com/read/28570507/trends-in-prevalence-of-advanced-hiv-disease-at-antiretroviral-therapy-enrollment-10-countries-2004-2015
#16
Andrew F Auld, Ray W Shiraishi, Ikwo Oboho, Christine Ross, Moses Bateganya, Valerie Pelletier, Jacob Dee, Kesner Francois, Nirva Duval, Mayer Antoine, Chris Delcher, Gracia Desforges, Mark Griswold, Jean Wysler Domercant, Nadjy Joseph, Varough Deyde, Yrvel Desir, Joelle Deas Van Onacker, Ermane Robin, Helen Chun, Isaac Zulu, Ishani Pathmanathan, E Kainne Dokubo, Spencer Lloyd, Rituparna Pati, Jonathan Kaplan, Elliot Raizes, Thomas Spira, Kiren Mitruka, Aleny Couto, Eduardo Samo Gudo, Francisco Mbofana, Melissa Briggs, Charity Alfredo, Carla Xavier, Alfredo Vergara, Ndapewa Hamunime, Simon Agolory, Gram Mutandi, Naemi N Shoopala, Souleymane Sawadogo, Andrew L Baughman, Adebobola Bashorun, Ibrahim Dalhatu, Mahesh Swaminathan, Dennis Onotu, Solomon Odafe, Oseni Omomo Abiri, Henry H Debem, Hank Tomlinson, Velephi Okello, Peter Preko, Trong Ao, Caroline Ryan, George Bicego, Peter Ehrenkranz, Harrison Kamiru, Harriet Nuwagaba-Biribonwoha, Gideon Kwesigabo, Angela A Ramadhani, Kahemele Ng'wangu, Patrick Swai, Mohamed Mfaume, Ramadhani Gongo, Deborah Carpenter, Timothy D Mastro, Carol Hamilton, Julie Denison, Fred Wabwire-Mangen, Olivier Koole, Kwasi Torpey, Seymour G Williams, Robert Colebunders, Julius N Kalamya, Alice Namale, Michelle R Adler, Bridget Mugisa, Sundeep Gupta, Sharon Tsui, Eric van Praag, Duc B Nguyen, Sheryl Lyss, Yen Le, Abu S Abdul-Quader, Nhan T Do, Modest Mulenga, Sebastian Hachizovu, Owen Mugurungi, Beth A Tippett Barr, Elizabeth Gonese, Tsitsi Mutasa-Apollo, Shirish Balachandra, Stephanie Behel, Trista Bingham, Duncan Mackellar, David Lowrance, Tedd V Ellerbrock
Monitoring prevalence of advanced human immunodeficiency virus (HIV) disease (i.e., CD4+ T-cell count <200 cells/μL) among persons starting antiretroviral therapy (ART) is important to understand ART program outcomes, inform HIV prevention strategy, and forecast need for adjunctive therapies.*(,)(†)(,)(§) To assess trends in prevalence of advanced disease at ART initiation in 10 high-burden countries during 2004-2015, records of 694,138 ART enrollees aged ≥15 years from 797 ART facilities were analyzed...
June 2, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28566273/an-expanded-genome-wide-association-study-of-type-2-diabetes-in-europeans
#17
Robert A Scott, Laura J Scott, Reedik Mägi, Letizia Marullo, Kyle J Gaulton, Marika Kaakinen, Natalia Pervjakova, Tune H Pers, Andrew D Johnson, John D Eicher, Anne U Jackson, Teresa Ferreira, Yeji Lee, Clement Ma, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Lu Qi, Natalie R Van Zuydam, Anubha Mahajan, Han Chen, Peter Almgren, Ben F Voight, Harald Grallert, Martina Müller-Nurasyid, Janina S Ried, William N Rayner, Neil Robertson, Lennart C Karssen, Elisabeth M van Leeuwen, Sara M Willems, Christian Fuchsberger, Phoenix Kwan, Tanya M Teslovich, Pritam Chanda, Man Li, Yingchang Lu, Christian Dina, Dorothee Thuillier, Loic Yengo, Longda Jiang, Thomas Sparso, Hans A Kestler, Himanshu Chheda, Lewin Eisele, Stefan Gustafsson, Mattias Frånberg, Rona J Strawbridge, Rafn Benediktsson, Astradur B Hreidarsson, Augustine Kong, Gunnar Sigurðsson, Nicola D Kerrison, Jian'an Luan, Liming Liang, Thomas Meitinger, Michael Roden, Barbara Thorand, Tõnu Esko, Evelin Mihailov, Caroline Fox, Ching-Ti Liu, Denis Rybin, Bo Isomaa, Valeriya Lyssenko, Tiinamaija Tuomi, David J Couper, James S Pankow, Niels Grarup, Christian T Have, Marit E Jørgensen, Torben Jørgensen, Allan Linneberg, Marilyn C Cornelis, Rob M van Dam, David J Hunter, Peter Kraft, Qi Sun, Sarah Edkins, Katharine R Owen, John Rb Perry, Andrew R Wood, Eleftheria Zeggini, Juan Tajes-Fernandes, Goncalo R Abecasis, Lori L Bonnycastle, Peter S Chines, Heather M Stringham, Heikki A Koistinen, Leena Kinnunen, Bengt Sennblad, Thomas W Mühleisen, Markus M Nöthen, Sonali Pechlivanis, Damiano Baldassarre, Karl Gertow, Steve E Humphries, Elena Tremoli, Norman Klopp, Julia Meyer, Gerald Steinbach, Roman Wennauer, Johan G Eriksson, Satu Mӓnnistö, Leena Peltonen, Emmi Tikkanen, Guillaume Charpentier, Elodie Eury, Stéphane Lobbens, Bruna Gigante, Karin Leander, Olga McLeod, Erwin P Bottinger, Omri Gottesman, Douglas Ruderfer, Matthias Blüher, Peter Kovacs, Anke Tonjes, Nisa M Maruthur, Chiara Scapoli, Raimund Erbel, Karl-Heinz Jöckel, Susanne Moebus, Ulf de Faire, Anders Hamsten, Michael Stumvoll, Panagiotis Deloukas, Peter J Donnelly, Timothy M Frayling, Andrew T Hattersley, Samuli Ripatti, Veikko Salomaa, Nancy L Pedersen, Bernhard O Boehm, Richard N Bergman, Francis S Collins, Karen L Mohlke, Jaakko Tuomilehto, Torben Hansen, Oluf Pedersen, Inês Barroso, Lars Lannfelt, Erik Ingelsson, Lars Lind, Cecilia M Lindgren, Stephane Cauchi, Philippe Froguel, Ruth Jf Loos, Beverley Balkau, Heiner Boeing, Paul W Franks, Aurelio Barricarte Gurrea, Domenico Palli, Yvonne T van der Schouw, David Altshuler, Leif C Groop, Claudia Langenberg, Nicholas J Wareham, Eric Sijbrands, Cornelia M van Duijn, Jose C Florez, James B Meigs, Eric Boerwinkle, Christian Gieger, Konstantin Strauch, Andres Metspalu, Andrew D Morris, Colin Na Palmer, Frank B Hu, Unnur Thorsteinsdottir, Kari Stefansson, Josée Dupuis, Andrew P Morris, Michael Boehnke, Mark I McCarthy, Inga Prokopenko
To characterise type 2 diabetes (T2D) associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D cases and 132,532 controls of European ancestry after imputation using the 1000 Genomes multi-ethnic reference panel. Promising association signals were followed-up in additional data sets (of 14,545 or 7,397 T2D cases and 38,994 or 71,604 controls). We identified 13 novel T2D-associated loci (p<5×10(-8)), including variants near the GLP2R, GIP, and HLA-DQA1 genes...
May 31, 2017: Diabetes
https://www.readbyqxmd.com/read/28561662/systemic-therapy-options-for-patients-with-unresectable-melanoma
#18
Melinda Yushak, Paul Chapman, Caroline Robert, Ragini Kudchadkar
There has been a therapeutic revolution in the treatment of metastatic melanoma over the past decade. Patients presenting with inoperable disease have several therapeutic options, which can include both targeted and immune therapy. Immune checkpoint inhibitors have demonstrated an improvement in overall survival and led to some durable responses. However, toxicity, especially in combination regimens, can be severe. Adverse events should be anticipated, diagnosed as early as possible, monitored, and managed...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28555406/investigation-of-previously-implicated-genetic-variants-in-chronic-tic-disorders-a-transmission-disequilibrium-test-approach
#19
Mohamed Abdulkadir, Douglas Londono, Derek Gordon, Thomas V Fernandez, Lawrence W Brown, Keun-Ah Cheon, Barbara J Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca Garcia-Delgar, Donald L Gilbert, Dorothy E Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Kirsten Müller-Vahl, Alexander Münchau, Tara L Murphy, Kerstin J Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H Zinner, Robert A King, Jay A Tischfield, Gary A Heiman, Pieter J Hoekstra, Andrea Dietrich
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort...
May 29, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28552196/whole-genome-sequencing-coupled-to-imputation-discovers-genetic-signals-for-anthropometric-traits
#20
Ioanna Tachmazidou, Dániel Süveges, Josine L Min, Graham R S Ritchie, Julia Steinberg, Klaudia Walter, Valentina Iotchkova, Jeremy Schwartzentruber, Jie Huang, Yasin Memari, Shane McCarthy, Andrew A Crawford, Cristina Bombieri, Massimiliano Cocca, Aliki-Eleni Farmaki, Tom R Gaunt, Pekka Jousilahti, Marjolein N Kooijman, Benjamin Lehne, Giovanni Malerba, Satu Männistö, Angela Matchan, Carolina Medina-Gomez, Sarah J Metrustry, Abhishek Nag, Ioanna Ntalla, Lavinia Paternoster, Nigel W Rayner, Cinzia Sala, William R Scott, Hashem A Shihab, Lorraine Southam, Beate St Pourcain, Michela Traglia, Katerina Trajanoska, Gialuigi Zaza, Weihua Zhang, María S Artigas, Narinder Bansal, Marianne Benn, Zhongsheng Chen, Petr Danecek, Wei-Yu Lin, Adam Locke, Jian'an Luan, Alisa K Manning, Antonella Mulas, Carlo Sidore, Anne Tybjaerg-Hansen, Anette Varbo, Magdalena Zoledziewska, Chris Finan, Konstantinos Hatzikotoulas, Audrey E Hendricks, John P Kemp, Alireza Moayyeri, Kalliope Panoutsopoulou, Michal Szpak, Scott G Wilson, Michael Boehnke, Francesco Cucca, Emanuele Di Angelantonio, Claudia Langenberg, Cecilia Lindgren, Mark I McCarthy, Andrew P Morris, Børge G Nordestgaard, Robert A Scott, Martin D Tobin, Nicholas J Wareham, Paul Burton, John C Chambers, George Davey Smith, George Dedoussis, Janine F Felix, Oscar H Franco, Giovanni Gambaro, Paolo Gasparini, Christopher J Hammond, Albert Hofman, Vincent W V Jaddoe, Marcus Kleber, Jaspal S Kooner, Markus Perola, Caroline Relton, Susan M Ring, Fernando Rivadeneira, Veikko Salomaa, Timothy D Spector, Oliver Stegle, Daniela Toniolo, André G Uitterlinden, Inês Barroso, Celia M T Greenwood, John R B Perry, Brian R Walker, Adam S Butterworth, Yali Xue, Richard Durbin, Kerrin S Small, Nicole Soranzo, Nicholas J Timpson, Eleftheria Zeggini
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates...
June 1, 2017: American Journal of Human Genetics
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