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https://www.readbyqxmd.com/read/29351438/systematic-reviews-of-the-literature-a-better-way-of-addressing-basic-science-controversies
#1
Emma C O'Hagan, Sadis Matalon, Lee Ann Riesenberg
Systematic reviews have long been an important part of the clinical literature; however, they have been slower to take hold among basic scientists. In this editorial, we outline a number of reasons why systematic reviews should be used more widely in the basic sciences: as a means to more quickly and accurately identify success and failures, to understand how variations in methodology and models may affect research, to identify and mitigate bias, and to inform future research directions. The process of conducting a systematic review is briefly described and finally, recent examples of systematic reviews in the basic sciences are acknowledged...
January 4, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29350454/patterns-of-internet-based-health-information-seeking-in-adult-survivors-of-childhood-cancer
#2
Mechelle D Claridy, Melissa M Hudson, Lee Caplan, Pauline A Mitby, Wendy Leisenring, Selina A Smith, Leslie L Robison, Ann C Mertens
BACKGROUND: To assess where, when, and why survivors of childhood cancer seek health information. PROCEDURE: Data from the Childhood Cancer Survivor Study (CCSS) cohort (n = 1386) and Health Information National Trends Survey (n = 2385) were analyzed to determine the health information seeking strategies of childhood cancer survivors. Descriptive frequencies, χ2 analyses, t-tests, and multivariable logistic regression models were used. RESULTS: To seek health-related information for themselves, 54% (n = 742) of the childhood survivors reported using the Internet in the past 12 months, compared to 45% of the general population (adjusted OR: 2...
January 19, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29349868/workplace-alcohol-harm-reduction-intervention-in-australia-cluster-non-randomised-controlled-trial
#3
Ken Pidd, Ann Roche, Jacqui Cameron, Nicole Lee, Linda Jenner, Vinita Duraisingam
INTRODUCTION AND AIMS: The workplace holds substantial potential as an alcohol harm reduction and prevention setting. Few studies have rigorously examined strategies to reduce workplace alcohol-related harm. Hence, an in-situ 3 year trial of a comprehensive alcohol harm reduction intervention in Australian manufacturing workplaces was undertaken. DESIGN AND METHODS: Informed by a gap analysis, a multi-site trial was undertaken. Three manufacturing industry companies, located at four separate worksites, with a minimum of 100 employees were recruited through a local industry network...
January 18, 2018: Drug and Alcohol Review
https://www.readbyqxmd.com/read/29342269/a-silent-epidemic-the-prevalence-incidence-and-persistence-of-mycoplasma-genitalium-among-young-asymptomatic-high-risk-women-in-the-united-states
#4
Arlene C Seña, Jeannette Y Lee, Jane Schwebke, Susan S Philip, Harold C Wiesenfeld, Anne M Rompalo, Robert L Cook, Marcia M Hobbs
Background: Mycoplasma genitalium (MG) is a sexually transmitted infection (STI) that can result in pelvic inflammatory disease and adverse pregnancy outcomes. We analyzed data collected from a prospective study of asymptomatic bacterial vaginosis (BV) to determine the natural history of MG. Methods: Women aged 15-25 years, with ≥2 STI risk factors and asymptomatic BV were recruited from 10 sites throughout the United States. Vaginal swabs were collected at enrollment, and by home-based testing every 2 months over 12 months...
January 12, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29342134/chromosomal-instability-drives-metastasis-through-a-cytosolic-dna-response
#5
Samuel F Bakhoum, Bryan Ngo, Ashley M Laughney, Julie-Ann Cavallo, Charles J Murphy, Peter Ly, Pragya Shah, Roshan K Sriram, Thomas B K Watkins, Neil K Taunk, Mercedes Duran, Chantal Pauli, Christine Shaw, Kalyani Chadalavada, Vinagolu K Rajasekhar, Giulio Genovese, Subramanian Venkatesan, Nicolai J Birkbak, Nicholas McGranahan, Mark Lundquist, Quincey LaPlant, John H Healey, Olivier Elemento, Christine H Chung, Nancy Y Lee, Marcin Imielenski, Gouri Nanjangud, Dana Pe'er, Don W Cleveland, Simon N Powell, Jan Lammerding, Charles Swanton, Lewis C Cantley
Chromosomal instability is a hallmark of cancer that results from ongoing errors in chromosome segregation during mitosis. Although chromosomal instability is a major driver of tumour evolution, its role in metastasis has not been established. Here we show that chromosomal instability promotes metastasis by sustaining a tumour cell-autonomous response to cytosolic DNA. Errors in chromosome segregation create a preponderance of micronuclei whose rupture spills genomic DNA into the cytosol. This leads to the activation of the cGAS-STING (cyclic GMP-AMP synthase-stimulator of interferon genes) cytosolic DNA-sensing pathway and downstream noncanonical NF-κB signalling...
January 17, 2018: Nature
https://www.readbyqxmd.com/read/29325868/canadian-genome-wide-association-study-and-meta-analysis-confirm-hla-as-a-risk-factor-for-peanut-allergy-independent-of-asthma
#6
Yuka Asai, Aida Eslami, C Dorien van Ginkel, Loubna Akhabir, Ming Wan, David Yin, George Ellis, Moshe Ben-Shoshan, Ingo Marenholz, David Martino, Manuel A Ferreira, Katrina Allen, Bruce Mazer, Hans de Groot, Nicolette W de Jong, Roy Gerth van Wijk, Anthony E J Dubois, Sarah Grosche, Sarah Ashley, Franz Rüschendorf, Birgit Kalb, Kirsten Beyer, Markus M Nöthen, Young-Ae Lee, Rick Chin, Steven Cheuk, Joshua Hoffman, Eric Jorgensen, John S Witte, Ronald B Melles, Xiumei Hong, Xiaobin Wang, Jennie Hui, Arthur W Bill Musk, Michael Hunter, Alan L James, Gerard H Koppelman, Andrew J Sandford, Ann E Clarke, Denise Daley
No abstract text is available yet for this article.
January 8, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29325149/anatomy-of-a-hotspot-chain-and-seroepidemiology-of-ebola-virus-transmission-sukudu-sierra-leone-2015-16
#7
J Daniel Kelly, Mohamed Bailor Barrie, Annelies W Mesman, Sahr Karku, Komba Quiwa, Michael Drasher, Gabriel Warren Slough, Kerry Dierberg, Songor Koedoyoma, Christina P Lindan, James Holland Jones, Gabriel Chamie, Lee Worden, Bryan Greenhouse, Sheri D Weiser, Travis C Porco, George W Rutherford, Eugene T Richardson
Studies have yet to include minimally symptomatic Ebola virus (EBOV) infections and unrecognized Ebola virus disease (EVD) in Ebola-related transmission chains and epidemiologic risk estimates. We conducted a cross-sectional, sero-epidemiological survey from October 2015 to January 2016 among 221 individuals living in quarantined households from November 2014 to February 2015 during the Ebola outbreak in the village of Sukudu, Sierra Leone. Of 48 EBOV infected-persons, 25% (95%CI, 14-40%) had minimally symptomatic EBOV infections and 4% (95%CI, 1-14%) were unrecognized EVD cases...
January 9, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29306447/obstetric-and-gynecologic-ultrasound-curriculum-and-competency-assessment-in-residency-training-programs-consensus-report
#8
Alfred Abuhamad, Katherine K Minton, Carol B Benson, Trish Chudleigh, Lori Crites, Peter M Doubilet, Rita Driggers, Wesley Lee, Karen V Mann, James J Perez, Nancy C Rose, Lynn L Simpson, Ann Tabor, Beryl R Benacerraf
Ultrasound imaging has become integral to the practice of obstetrics and gynecology. With increasing educational demands and limited hours in residency programs, dedicated time for training and achieving competency in ultrasound has diminished substantially. The American Institute of Ultrasound in Medicine assembled a multisociety task force to develop a consensus-based, standardized curriculum and competency assessment tools for obstetric and gynecologic ultrasound training in residency programs. The curriculum and competency assessment tools were developed based on existing national and international guidelines for the performance of obstetric and gynecologic ultrasound examinations and thus are intended to represent the minimum requirement for such training...
January 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29297610/obstetric-and-gynecologic-ultrasound-curriculum-and-competency-assessment-in-residency-training-programs-consensus-report
#9
Alfred Abuhamad, Katherine K Minton, Carol B Benson, Trish Chudleigh, Lori Crites, Peter M Doubilet, Rita Driggers, Wesley Lee, Karen V Mann, James J Perez, Nancy C Rose, Lynn L Simpson, Ann Tabor, Beryl R Benacerraf
Ultrasound imaging has become integral to the practice of obstetrics and gynecology. With increasing educational demands and limited hours in residency programs, dedicated time for training and achieving competency in ultrasound has diminished substantially. The American Institute of Ultrasound in Medicine assembled a multisociety task force to develop a consensus-based, standardized curriculum and competency assessment tools for obstetric and gynecologic ultrasound training in residency programs. The curriculum and competency assessment tools were developed based on existing national and international guidelines for the performance of obstetric and gynecologic ultrasound examinations and thus are intended to represent the minimum requirement for such training...
January 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29296762/whole-exome-sequencing-in-evaluation-of-patients-with-venous-thromboembolism
#10
Eun-Ju Lee, Daniel J Dykas, Andrew D Leavitt, Rodney M Camire, Eduard Ebberink, Pablo García de Frutos, Kavitha Gnanasambandan, Sean X Gu, James A Huntington, Steven R Lentz, Koen Mertens, Christopher R Parish, Alireza R Rezaie, Peter P Sayeski, Caroline Cromwell, Noffar Bar, Stephanie Halene, Natalia Neparidze, Terri L Parker, Adrienne J Burns, Anne Dumont, Xiaopan Yao, Cassius Iyad Ochoa Chaar, Jean M Connors, Allen E Bale, Alfred Ian Lee
Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. We hypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE, focusing our analysis on a novel 55-gene extended thrombophilia panel that we compiled...
July 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29282788/mpv17-related-mitochondrial-dna-maintenance-defect-new-cases-and-review-of-clinical-biochemical-and-molecular-aspects
#11
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J Gambello, Pankaj Prasun, Saleem Raza, Hernando J Lyons, Manal Afqi, Mohammed A M Saleh, Eissa A Faqeih, Hamad I Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S Barbouth, Kei Murayama, Amit A Shah, Henry C Lin, Lee-Jun C Wong
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants...
December 27, 2017: Human Mutation
https://www.readbyqxmd.com/read/29282266/senior-high-cost-healthcare-users-resource-utilization-and-outcomes-a-protocol-of-a-retrospective-matched-cohort-study-in-canada
#12
Sergei Muratov, Justin Lee, Anne Holbrook, J Michael Paterson, Jason Robert Guertin, Lawrence Mbuagbaw, Tara Gomes, Wayne Khuu, Priscila Pequeno, Andrew P Costa, Jean-Eric Tarride
INTRODUCTION: Senior high-cost users (HCUs) are estimated to represent 60% of all HCUs in Ontario, Canada's most populous province. To improve our understanding of individual and health system characteristics related to senior HCUs, we will examine incident senior HCUs to determine their incremental healthcare utilisation and costs, characteristics of index hospitalisation episodes, mortality and their regional variation across Ontario. METHODS AND ANALYSIS: A retrospective, population-based cohort study using administrative healthcare records will be used...
December 26, 2017: BMJ Open
https://www.readbyqxmd.com/read/29277539/skin-wound-healing-is-accelerated-by-a-lipid-mixture-representing-major-lipid-components-of-chamaecyparis-obtusa-plant-extract
#13
Byung Eui Kim, Elena Goleva, Clifton F Hall, Sang Hyun Park, Un Ha Lee, Anne M Brauweiler, Joanne E Streib, Brittany N Richers, Gwuicheol Kim, Donald Y M Leung
In chronic non-healing wounds, the healing process is disrupted and wounds are often infected with bacteria. About 85% of lower extremity amputations in diabetes are attributed to deep infection of foot ulcers. Therefore, infection control is critical for wound care. In this study, we analyzed lipid composition of Chamaecyparis (C) obtusa extract, and describe the wound healing properties of its combination of ten major lipid components. A 10 lipid mixture upregulated HBD-3 and LL-37 through the olfactory receptor 2AT4, and induced phosphorylation of extracellular signal-regulated kinases and p38 mitogen-activated protein kinases in primary human keratinocytes...
December 22, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29273807/protein-altering-variants-associated-with-body-mass-index-implicate-pathways-that-control-energy-intake-and-expenditure-in-obesity
#14
Valérie Turcot, Yingchang Lu, Heather M Highland, Claudia Schurmann, Anne E Justice, Rebecca S Fine, Jonathan P Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L Young, Tamuno Alfred, Mary F Feitosa, Nicholas G D Masca, Alisa K Manning, Carolina Medina-Gomez, Poorva Mudgal, Maggie C Y Ng, Alex P Reiner, Sailaja Vedantam, Sara M Willems, Thomas W Winkler, Gonçalo Abecasis, Katja K Aben, Dewan S Alam, Sameer E Alharthi, Matthew Allison, Philippe Amouyel, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Lia E Bang, Inês Barroso, Lisa Bastarache, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Marco Brumat, Amber A Burt, Adam S Butterworth, Peter T Campbell, Stefania Cappellani, David J Carey, Eulalia Catamo, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der I Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, David S Crosslin, Gabriel Cuellar-Partida, Angela D'Eustacchio, John Danesh, Gail Davies, Paul I W Bakker, Mark C H Groot, Renée Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Martin Heijer, Anneke I Hollander, Hester M Ruijter, Joe G Dennis, Josh C Denny, Emanuele Angelantonio, Fotios Drenos, Mengmeng Du, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Todd L Edwards, David Ellinghaus, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, I Sadaf Farooqi, Jessica D Faul, Sascha Fauser, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Oscar H Franco, Andre Franke, Paul W Franks, Nele Friedrich, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Jane Gibson, Vilmantas Giedraitis, Anette P Gjesing, Penny Gordon-Larsen, Mathias Gorski, Hans-Jörgen Grabe, Struan F A Grant, Niels Grarup, Helen L Griffiths, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Jeff Haessler, Hakon Hakonarson, Anke R Hammerschlag, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Christian T Have, Caroline Hayward, Liang He, Nancy L Heard-Costa, Andrew C Heath, Iris M Heid, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Yao Hu, Paul L Huang, Jennifer E Huffman, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Yucheng Jia, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Sekar Kathiresan, Frank Kee, Lambertus A Kiemeney, Eric Kim, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Charles Kooperberg, Tellervo Korhonen, Peter Kovacs, Helena Kuivaniemi, Zoltán Kutalik, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Ethan M Lange, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Keng-Hung Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Yongmei Liu, Ken S Lo, Artitaya Lophatananon, Andrew J Lotery, Anu Loukola, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, Satu Männistö, Gaëlle Marenne, Angela L Mazul, Mark I McCarthy, Roberta McKean-Cowdin, Sarah E Medland, Karina Meidtner, Lili Milani, Vanisha Mistry, Paul Mitchell, Karen L Mohlke, Leena Moilanen, Marie Moitry, Grant W Montgomery, Dennis O Mook-Kanamori, Carmel Moore, Trevor A Mori, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Narisu Narisu, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Dale R Nyholt, Jeffrey R O'Connel, Michelle L O'Donoghue, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Nicholette D Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Tune H Pers, Thomas N Person, Annette Peters, Eva R B Petersen, Patricia A Peyser, Ailith Pirie, Ozren Polasek, Tinca J Polderman, Hannu Puolijoki, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Frida Renström, Myriam Rheinberger, Paul M Ridker, John D Rioux, Manuel A Rivas, David J Roberts, Neil R Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Yadav Sapkota, Naveed Sattar, Robert E Schoen, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati H Shah, Wayne H-H Sheu, Xueling Sim, Andrew J Slater, Kerrin S Small, Albert V Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kari Stefansson, Valgerdur Steinthorsdottir, Kathleen E Stirrups, Konstantin Strauch, Heather M Stringham, Michael Stumvoll, Liang Sun, Praveen Surendran, Amy J Swift, Hayato Tada, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Matti Uusitupa, Sander W Laan, Cornelia M Duijn, Nienke Leeuwen, Jessica van Setten, Mauno Vanhala, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Giovanni Veronesi, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Uwe Völker, Dragana Vuckovic, Lynne E Wagenknecht, Mark Walker, Lars Wallentin, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Erin B Ware, Nicholas J Wareham, Helen R Warren, Dawn M Waterworth, Jennifer Wessel, Harvey D White, Cristen J Willer, James G Wilson, Daniel R Witte, Andrew R Wood, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhou, Krina T Zondervan, Jerome I Rotter, John A Pospisilik, Fernando Rivadeneira, Ingrid B Borecki, Panos Deloukas, Timothy M Frayling, Guillaume Lettre, Kari E North, Cecilia M Lindgren, Joel N Hirschhorn, Ruth J F Loos
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR...
January 2018: Nature Genetics
https://www.readbyqxmd.com/read/29261173/the-who-what-and-why-of-research-participants-intentions-to-request-a-broad-range-of-secondary-findings-in-a-diagnostic-genomic-sequencing-study
#15
Christine Rini, Cynthia M Khan, Elizabeth Moore, Myra I Roche, James P Evans, Jonathan S Berg, Bradford C Powell, Giselle Corbie-Smith, Ann Katherine M Foreman, Ida Griesemer, Kristy Lee, Julianne M O'Daniel, Gail E Henderson
PurposeIn a diagnostic exome sequencing study (the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing project, NCGENES), we investigated adult patients' intentions to request six categories of secondary findings (SFs) with low or no medical actionability and correlates of their intentions.MethodsAt enrollment, eligible participants (n = 152) completed measures assessing their sociodemographic, clinical, and literacy-related characteristics. Prior to and during an in-person diagnostic result disclosure visit, they received education about categories of SFs they could request...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29258295/therapeutic-targeting-of-ependymoma-as-informed-by-oncogenic-enhancer-profiling
#16
Stephen C Mack, Kristian W Pajtler, Lukas Chavez, Konstantin Okonechnikov, Kelsey C Bertrand, Xiuxing Wang, Serap Erkek, Alexander Federation, Anne Song, Christine Lee, Xin Wang, Laura McDonald, James J Morrow, Alina Saiakhova, Patrick Sin-Chan, Qiulian Wu, Kulandaimanuvel Antony Michaelraj, Tyler E Miller, Christopher G Hubert, Marina Ryzhova, Livia Garzia, Laura Donovan, Stephen Dombrowski, Daniel C Factor, Betty Luu, Claudia L L Valentim, Ryan C Gimple, Andrew Morton, Leo Kim, Briana C Prager, John J Y Lee, Xiaochong Wu, Jennifer Zuccaro, Yuan Thompson, Borja L Holgado, Jüri Reimand, Susan Q Ke, Adam Tropper, Sisi Lai, Senthuran Vijayarajah, Sylvia Doan, Vaidehi Mahadev, Ana Fernandez Miñan, Susanne N Gröbner, Matthias Lienhard, Marc Zapatka, Zhiqin Huang, Kenneth D Aldape, Angel M Carcaboso, Peter J Houghton, Stephen T Keir, Till Milde, Hendrik Witt, Yan Li, Chao-Jun Li, Xiu-Wu Bian, David T W Jones, Ian Scott, Sheila K Singh, Annie Huang, Peter B Dirks, Eric Bouffet, James E Bradner, Vijay Ramaswamy, Nada Jabado, James T Rutka, Paul A Northcott, Mathieu Lupien, Peter Lichter, Andrey Korshunov, Peter C Scacheri, Stefan M Pfister, Marcel Kool, Michael D Taylor, Jeremy N Rich
Genomic sequencing has driven precision-based oncology therapy; however, the genetic drivers of many malignancies remain unknown or non-targetable, so alternative approaches to the identification of therapeutic leads are necessary. Ependymomas are chemotherapy-resistant brain tumours, which, despite genomic sequencing, lack effective molecular targets. Intracranial ependymomas are segregated on the basis of anatomical location (supratentorial region or posterior fossa) and further divided into distinct molecular subgroups that reflect differences in the age of onset, gender predominance and response to therapy...
December 20, 2017: Nature
https://www.readbyqxmd.com/read/29258292/corrigendum-phylogenetic-ctdna-analysis-depicts-early-stage-lung-cancer-evolution
#17
Christopher Abbosh, Nicolai J Birkbak, Gareth A Wilson, Mariam Jamal-Hanjani, Tudor Constantin, Raheleh Salari, John Le Quesne, David A Moore, Selvaraju Veeriah, Rachel Rosenthal, Teresa Marafioti, Eser Kirkizlar, Thomas B K Watkins, Nicholas McGranahan, Sophia Ward, Luke Martinson, Joan Riley, Francesco Fraioli, Maise Al Bakir, Eva Grönroos, Francisco Zambrana, Raymondo Endozo, Wenya Linda Bi, Fiona M Fennessy, Nicole Sponer, Diana Johnson, Joanne Laycock, Seema Shafi, Justyna Czyzewska-Khan, Andrew Rowan, Tim Chambers, Nik Matthews, Samra Turajlic, Crispin Hiley, Siow Ming Lee, Martin D Forster, Tanya Ahmad, Mary Falzon, Elaine Borg, David Lawrence, Martin Hayward, Shyam Kolvekar, Nikolaos Panagiotopoulos, Sam M Janes, Ricky Thakrar, Asia Ahmed, Fiona Blackhall, Yvonne Summers, Dina Hafez, Ashwini Naik, Apratim Ganguly, Stephanie Kareht, Rajesh Shah, Leena Joseph, Anne Marie Quinn, Phil A Crosbie, Babu Naidu, Gary Middleton, Gerald Langman, Simon Trotter, Marianne Nicolson, Hardy Remmen, Keith Kerr, Mahendran Chetty, Lesley Gomersall, Dean A Fennell, Apostolos Nakas, Sridhar Rathinam, Girija Anand, Sajid Khan, Peter Russell, Veni Ezhil, Babikir Ismail, Melanie Irvin-Sellers, Vineet Prakash, Jason F Lester, Malgorzata Kornaszewska, Richard Attanoos, Haydn Adams, Helen Davies, Dahmane Oukrif, Ayse U Akarca, John A Hartley, Helen L Lowe, Sara Lock, Natasha Iles, Harriet Bell, Yenting Ngai, Greg Elgar, Zoltan Szallasi, Roland F Schwarz, Javier Herrero, Aengus Stewart, Sergio A Quezada, Karl S Peggs, Peter Van Loo, Caroline Dive, C Jimmy Lin, Matthew Rabinowitz, Hugo J W L Aerts, Allan Hackshaw, Jacqui A Shaw, Bernhard G Zimmermann, Charles Swanton
This corrects the article DOI: 10.1038/nature22364.
December 20, 2017: Nature
https://www.readbyqxmd.com/read/29249690/jak-stat3-regulated-fatty-acid-%C3%AE-oxidation-is-critical-for-breast-cancer-stem-cell-self-renewal-and-chemoresistance
#18
Tianyi Wang, Johannes Francois Fahrmann, Heehyoung Lee, Yi-Jia Li, Satyendra C Tripathi, Chanyu Yue, Chunyan Zhang, Veronica Lifshitz, Jieun Song, Yuan Yuan, George Somlo, Rahul Jandial, David Ann, Samir Hanash, Richard Jove, Hua Yu
Cancer stem cells (CSCs) are critical for cancer progression and chemoresistance. How lipid metabolism regulates CSCs and chemoresistance remains elusive. Here, we demonstrate that JAK/STAT3 regulates lipid metabolism, which promotes breast CSCs (BCSCs) and cancer chemoresistance. Inhibiting JAK/STAT3 blocks BCSC self-renewal and expression of diverse lipid metabolic genes, including carnitine palmitoyltransferase 1B (CPT1B), which encodes the critical enzyme for fatty acid β-oxidation (FAO). Moreover, mammary-adipocyte-derived leptin upregulates STAT3-induced CPT1B expression and FAO activity in BCSCs...
December 13, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/29243415/compact-dual-mode-diffuse-optical-system-for-blood-perfusion-monitoring-in-a-porcine-model-of-microvascular-tissue-flaps
#19
Seung Yup Lee, Julia M Pakela, Michael C Helton, Karthik Vishwanath, Yooree G Chung, Noah J Kolodziejski, Christopher J Stapels, Daniel R McAdams, Daniel E Fernandez, James F Christian, Jameson O'Reilly, Dana Farkas, Brent B Ward, Stephen E Feinberg, Mary-Ann Mycek
In reconstructive surgery, the ability to detect blood flow interruptions to grafted tissue represents a critical step in preventing postsurgical complications. We have developed and pilot tested a compact, fiber-based device that combines two complimentary modalities-diffuse correlation spectroscopy (DCS) and diffuse reflectance spectroscopy-to quantitatively monitor blood perfusion. We present a proof-of-concept study on an in vivo porcine model (n=8). With a controllable arterial blood flow supply, occlusion studies (n=4) were performed on surgically isolated free flaps while the device simultaneously monitored blood flow through the supplying artery as well as flap perfusion from three orientations: the distal side of the flap and two transdermal channels...
December 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/29243012/use-of-a-unique-farmers-market-program-targeting-lower-income-community-members
#20
Brittany Lawrence, Anna E Greer, Anne Marie Zimeri, Daphne C Hernandez, SangNam Ahn, Shaakira Jones, Matthew Lee Smith
We examined use of a farmers' market that leverages community partnerships to provide free produce to lower-income persons. Participants (n = 422) were asked to complete a questionnaire and given an ID number, which was used to track market use from 2014 to 2015. Chi square tests were used to examine associations between 2014/2015 market use and reasons for market use, financial support received, and how attendees had learned about the market. Ordinal regression was used to identify household characteristics associated with increased market attendance...
December 14, 2017: Journal of Community Health
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