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Mark Daly

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https://www.readbyqxmd.com/read/29782352/an-update-on-the-management-of-pancreatic-neuroendocrine-tumors
#1
Limin Gao, Nikola S Natov, Kevin P Daly, Faisal Masud, Sadia Chaudhry, Mark J Sterling, Muhammad W Saif
Pancreatic neuroendocrine tumors (PNETs) are a rare and heterogeneous group of neoplasia and differ in their clinical presentation, behavior, and prognosis based on both histological features and cancer stage at the time of diagnosis. Although small-sized tumors can be surgically resected, locally advanced and metastatic tumors confer a poor prognosis. In addition, only limited treatment options are available to the latter group of patients with PNETs, such as hormonal analogs, cytotoxic agents, and targeted therapy...
May 8, 2018: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29773122/cost-effectiveness-of-the-controlled-temperature-chain-for-the-hepatitis-b-virus-birth-dose-vaccine-in-various-global-settings-a-modelling-study
#2
Nick Scott, Anna Palmer, Christopher Morgan, Olufunmilayo Lesi, C Wendy Spearman, Mark Sonderup, Margaret Hellard
BACKGROUND: The controlled temperature chain (CTC) strategy allows vaccines to be kept outside the cold chain for a short period of time. In remote rural areas, the CTC strategy for the hepatitis B virus (HBV) birth dose vaccination could improve its geographical coverage and timeliness of delivery, but with additional outreach costs. We assessed the cost-effectiveness of the CTC strategy for the HBV birth dose across six world regions and 72 countries according to their HBV prevalence, delivery costs, and birth dose coverage and timing...
June 2018: Lancet Global Health
https://www.readbyqxmd.com/read/29768457/choice-of-time-horizon-critical-in-estimating-costs-and-effects-of-changes-to-hiv-programmes
#3
Nicky McCreesh, Ioannis Andrianakis, Rebecca N Nsubuga, Mark Strong, Ian Vernon, Trevelyan J McKinley, Jeremy E Oakley, Michael Goldstein, Richard Hayes, Richard G White
BACKGROUND: Uganda changed its antiretroviral therapy guidelines in 2014, increasing the CD4 threshold for antiretroviral therapy initiation from 350 cells/μl to 500 cells/μl. We investigate what effect this change in policy is likely to have on HIV incidence, morbidity, and programme costs, and estimate the cost-effectiveness of the change over different time horizons. METHODS: We used a complex individual-based model of HIV transmission and antiretroviral therapy scale-up in Uganda...
2018: PloS One
https://www.readbyqxmd.com/read/29754102/early-psychological-interventions-for-posttraumatic-stress-depression-and-anxiety-after-traumatic-injury-a-systematic-review-and-meta-analysis
#4
REVIEW
Melita J Giummarra, Alyse Lennox, Gezelle Dali, Beth Costa, Belinda J Gabbe
The psychological impacts of injury have significant long-term implications on injury recovery. This review examined the effectiveness of interventions delivered within three months of injury on reducing the severity of posttraumatic stress disorder (PTSD), anxiety and depression symptoms. A systematic search of seven databases (PsycINFO, Medline, Web of Science, CINAHL, Embase, Scopus and Cochrane Library) identified 15,224 records. 212 full-text articles were retrieved, 26 studies were included in narrative synthesis, and 12 studies with lower risk of bias were included in meta-analyses...
May 5, 2018: Clinical Psychology Review
https://www.readbyqxmd.com/read/29751618/a-cost-benefit-analysis-of-an-active-travel-intervention-with-health-and-carbon-emission-reduction-benefits
#5
Ralph Chapman, Michael Keall, Philippa Howden-Chapman, Mark Grams, Karen Witten, Edward Randal, Alistair Woodward
Active travel (walking and cycling) is beneficial for people’s health and has many co-benefits, such as reducing motor vehicle congestion and pollution in urban areas. There have been few robust evaluations of active travel, and very few studies have valued health and emissions outcomes. The ACTIVE before-and-after quasi-experimental study estimated the net benefits of health and other outcomes from New Zealand’s Model Communities Programme using an empirical analysis comparing two intervention cities with two control cities...
May 11, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29731251/common-variant-burden-contributes-to-the-familial-aggregation-of-migraine-in-1-589-families
#6
Padhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Anneli Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Markus Färkkilä, Heiko Runz, Mark J Daly, Benjamin M Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1...
April 27, 2018: Neuron
https://www.readbyqxmd.com/read/29706349/haplotype-sharing-provides-insights-into-fine-scale-population-history-and-disease-in-finland
#7
Alicia R Martin, Konrad J Karczewski, Sini Kerminen, Mitja I Kurki, Antti-Pekka Sarin, Mykyta Artomov, Johan G Eriksson, Tõnu Esko, Giulio Genovese, Aki S Havulinna, Jaakko Kaprio, Alexandra Konradi, László Korányi, Anna Kostareva, Minna Männikkö, Andres Metspalu, Markus Perola, Rashmi B Prasad, Olli Raitakari, Oxana Rotar, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M Neale, Samuli Ripatti, Matti Pirinen, Mark J Daly
Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks. We assembled a comprehensive view of recent population history (≤100 generations), the timespan during which most rare-disease-causing alleles arose, by comparing pairwise haplotype sharing from 43,254 Finns to that of 16,060 Swedes, Estonians, Russians, and Hungarians from geographically and linguistically adjacent countries with different population histories...
April 25, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29700473/an-analytical-framework-for-whole-genome-sequence-association-studies-and-its-implications-for-autism-spectrum-disorder
#8
Donna M Werling, Harrison Brand, Joon-Yong An, Matthew R Stone, Lingxue Zhu, Joseph T Glessner, Ryan L Collins, Shan Dong, Ryan M Layer, Eirene Markenscoff-Papadimitriou, Andrew Farrell, Grace B Schwartz, Harold Z Wang, Benjamin B Currall, Xuefang Zhao, Jeanselle Dea, Clif Duhn, Carolyn A Erdman, Michael C Gilson, Rachita Yadav, Robert E Handsaker, Seva Kashin, Lambertus Klei, Jeffrey D Mandell, Tomasz J Nowakowski, Yuwen Liu, Sirisha Pochareddy, Louw Smith, Michael F Walker, Matthew J Waterman, Xin He, Arnold R Kriegstein, John L Rubenstein, Nenad Sestan, Steven A McCarroll, Benjamin M Neale, Hilary Coon, A Jeremy Willsey, Joseph D Buxbaum, Mark J Daly, Matthew W State, Aaron R Quinlan, Gabor T Marth, Kathryn Roeder, Bernie Devlin, Michael E Talkowski, Stephan J Sanders
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide variants, insertion/deletions, and all classes of structural variation from whole-genome sequencing (WGS). Integrating genomic annotations at the level of nucleotides, genes, and regulatory regions, we define 51,801 annotation categories. Analyses of 519 autism spectrum disorder families did not identify association with any categories after correction for 4,123 effective tests...
April 26, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29697771/burden-of-disease-studies-in-the-who-european-region-a-mapping-exercise
#9
Mark R O'Donovan, Christian Gapp, Claudia Stein
Background: The World Health Organization (WHO) and the Institute for Health Metrics and Evaluation (IHME) have produced numerous global burden of disease (GBD) estimates since the 1990s, using disability-adjusted life-years (DALYs). Here we attempt to identify studies that have either independent DALY estimates or build on the work of WHO and IHME, for the WHO European Region, categorize them by scope of disease analysis and geographic coverage, and briefly compare their methodology (age weighting, discounting and disability weights)...
April 25, 2018: European Journal of Public Health
https://www.readbyqxmd.com/read/29691392/medical-relevance-of-protein-truncating-variants-across-337-205-individuals-in-the-uk-biobank-study
#10
Christopher DeBoever, Yosuke Tanigawa, Malene E Lindholm, Greg McInnes, Adam Lavertu, Erik Ingelsson, Chris Chang, Euan A Ashley, Carlos D Bustamante, Mark J Daly, Manuel A Rivas
Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and find 27 associations between medical phenotypes and protein-truncating variants in genes outside the major histocompatibility complex. We perform phenome-wide analyses and directly measure the effect in homozygous carriers, commonly referred to as "human knockouts," across medical phenotypes for genes implicated as being protective against disease or associated with at least one phenotype in our study...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29650553/enduring-epigenetic-landmarks-define-the-cancer-microenvironment
#11
Ruth Pidsley, Mitchell G Lawrence, Elena Zotenko, Birunthi Niranjan, Aaron Statham, Jenny Song, Roman M Chabanon, Wenjia Qu, Hong Wang, Michelle Richards, Shalima S Nair, Nicola J Armstrong, Hieu T Nim, Melissa Papargiris, Preetika Balanathan, Hugh French, Timothy Peters, Sam Norden, Andrew Ryan, John Pedersen, James Kench, Roger J Daly, Lisa G Horvath, Phillip Stricker, Mark Frydenberg, Renea A Taylor, Clare Stirzaker, Gail P Risbridger, Susan J Clark
The growth and progression of solid tumors involves dynamic cross-talk between cancer epithelium and the surrounding microenvironment. To date, molecular profiling has largely been restricted to the epithelial component of tumors; therefore, features underpinning the persistent protumorigenic phenotype of the tumor microenvironment are unknown. Using whole-genome bisulfite sequencing, we show for the first time that cancer-associated fibroblasts (CAFs) from localized prostate cancer display remarkably distinct and enduring genome-wide changes in DNA methylation, significantly at enhancers and promoters, compared to nonmalignant prostate fibroblasts (NPFs)...
May 2018: Genome Research
https://www.readbyqxmd.com/read/29642816/damp-housing-gas-stoves-and-the-burden-of-childhood-asthma-in-australia
#12
Luke D Knibbs, Solomon Woldeyohannes, Guy B Marks, Christine T Cowie
OBJECTIVE: To determine the proportion of the national childhood asthma burden associated with exposure to dampness and gas stoves in Australian homes. DESIGN: Comparative risk assessment modelling study. Setting, participants: Australian children aged 14 years or less, 2011. MAIN OUTCOME MEASURES: The population attributable fractions (PAFs) and number of disability-adjusted life years (DALYs) for childhood asthma associated with exposure to damp housing and gas stoves...
April 16, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29593342/genetic-variants-and-pathways-implicated-in-a-pediatric-inflammatory-bowel-disease-cohort
#13
Kelly A Shaw, David J Cutler, David Okou, Anne Dodd, Bruce J Aronow, Yael Haberman, Christine Stevens, Thomas D Walters, Anne Griffiths, Robert N Baldassano, Joshua D Noe, Jeffrey S Hyams, Wallace V Crandall, Barbara S Kirschner, Melvin B Heyman, Scott Snapper, Stephen Guthery, Marla C Dubinsky, Jason M Shapiro, Anthony R Otley, Mark Daly, Lee A Denson, Subra Kugathasan, Michael E Zwick
In the United States, approximately 5% of individuals with inflammatory bowel disease (IBD) are younger than 20 years old. Studies of pediatric cohorts can provide unique insights into genetic architecture of IBD, which includes Crohn's disease (CD) and ulcerative colitis (UC). Large genome-wide association studies have found more than 200 IBD-associated loci but explain a minority of disease variance for CD and UC. We sought to characterize the contribution of rare variants to disease development, comparing exome sequencing of 368 pediatric IBD patients to publicly available exome sequencing (dbGaP) and aggregate frequency data (ExAC)...
March 28, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/29579332/late-therapeutic-intervention-with-a-respiratory-syncytial-virus-l-protein-polymerase-inhibitor-pc786-on-rsv-infection-in-human-airway-epithelium
#14
Daniel W Brookes, Matthew Coates, Heather Allen, Leah Daly, Samuel Constant, Song Huang, Mark Hows, Amanda Davis, Lindsey Cass, John Ayrton, Ian Knowles, Pete Strong, Garth W Rapeport, Kazuhiro Ito
BACKGROUND AND PURPOSE: Effective anti-respiratory syncytial virus (RSV) agents are still not available for clinical use. Current major targets are virus surface proteins, such as a fusion-protein involved in viral entry, but agents effective after RSV infection is established are required. The aim of study is to investigate the effects of late therapeutic intervention with a novel inhaled RSV polymerase inhibitor, PC786, on RSV infection in human airway epithelium. EXPERIMENTAL APPROACH: Air liquid interface (ALI) cultured bronchial or small airway epithelium was infected with RSVA2...
March 26, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29579042/genetic-variants-in-cellular-transport-do-not-affect-mesalamine-response-in-ulcerative-colitis
#15
Christopher J Moran, Hailiang Huang, Manuel Rivas, Jess L Kaplan, Mark J Daly, Harland S Winter
BACKGROUND AND AIMS: Mesalamine is commonly used to treat ulcerative colitis (UC). Although mesalamine acts topically, in vitro data suggest that intracellular transport is required for its beneficial effect. Genetic variants in mucosal transport proteins may affect this uptake, but the clinical relevance of these variants has not been studied. The aim of this study was to determine whether variants in genes involved in cellular transport affect the response to mesalamine in UC. METHODS: Subjects with UC from a 6-week clinical trial using multiple doses of mesalamine were genotyped using a genome-wide array that included common exome variants...
2018: PloS One
https://www.readbyqxmd.com/read/29564154/severity-and-burden-of-hand-foot-and-mouth-disease-in-asia-a-modelling-study
#16
Wee Ming Koh, Hishamuddin Badaruddin, Hanh La, Mark I-Cheng Chen, Alex R Cook
Background: Hand, foot and mouth disease (HFMD) affects millions of children across Asia annually, leading to an increase in implemented control policies such as surveillance, isolation and social distancing in affected jurisdictions. However, limited knowledge of disease burden and severity causes difficulty in policy optimisation as the associated economic cost cannot be easily estimated. We use a data synthesis approach to provide a comprehensive picture of HFMD disease burden, estimating infection risk, symptomatic rates, the risk of complications and death, and overall disability-adjusted life-year (DALY) losses, along with associated uncertainties...
2018: BMJ Global Health
https://www.readbyqxmd.com/read/29559475/germline-lysine-specific-demethylase-1-lsd1-kdm1a-mutations-confer-susceptibility-to-multiple-myeloma
#17
Xiaomu Wei, M Nieves Calvo-Vidal, Siwei Chen, Gang Wu, Maria V Revuelta, Jian Sun, Jinghui Zhang, Michael F Walsh, Kim E Nichols, Vijai Joseph, Carrie Snyder, Celine M Vachon, James D McKay, Shu-Ping Wang, David S Jayabalan, Lauren M Jacobs, Dina Becirovic, Rosalie G Waller, Mykyta Artomov, Agnes Viale, Jayeshkumar Patel, Jude Phillip, Selina Chen-Kiang, Karen Curtin, Mohamed Salama, Djordje Atanackovic, Ruben Niesvizky, Ola Landgren, Susan L Slager, Lucy A Godley, Jane Churpek, Judy E Garber, Kenneth C Anderson, Mark J Daly, Robert G Roeder, Charles Dumontet, Henry T Lynch, Charles G Mullighan, Nicola J Camp, Kenneth Offit, Robert J Klein, Haiyuan Yu, Leandro Cerchietti, Steven M Lipkin
Given the frequent and largely incurable occurrence of multiple myeloma, identification of germline genetic mutations that predispose cells to multiple myeloma may provide insight into disease etiology and the developmental mechanisms of its cell of origin, the plasma cell (PC). Here, we identified familial and early-onset multiple myeloma kindreds with truncating mutations in lysine-specific demethylase 1 (LSD1/KDM1A), an epigenetic transcriptional repressor that primarily demethylates histone H3 on lysine 4 and regulates hematopoietic stem cell self-renewal...
May 15, 2018: Cancer Research
https://www.readbyqxmd.com/read/29549319/publisher-correction-whole-genome-sequencing-in-psychiatric-disorders-the-wgspd-consortium
#18
Stephan J Sanders, Benjamin M Neale, Hailiang Huang, Donna M Werling, Joon-Yong An, Shan Dong, Goncalo Abecasis, P Alexander Arguello, John Blangero, Michael Boehnke, Mark J Daly, Kevin Eggan, Daniel H Geschwind, David C Glahn, David B Goldstein, Raquel E Gur, Robert E Handsaker, Steven A McCarroll, Roel A Ophoff, Aarno Palotie, Carlos N Pato, Chiara Sabatti, Matthew W State, A Jeremy Willsey, Steven E Hyman, Anjene M Addington, Thomas Lehner, Nelson B Freimer
In the version of this article initially published, the consortium authorship and corresponding authors were not presented correctly. In the PDF and print versions, the Whole Genome Sequencing for Psychiatric Disorders (WGSPD) consortium was missing from the author list at the beginning of the paper, where it should have appeared as the seventh author; it was present in the author list at the end of the paper, but the footnote directing readers to the Supplementary Note for a list of members was missing. In the HTML version, the consortium was listed as the last author instead of as the seventh, and the line directing readers to the Supplementary Note for a list of members appeared at the end of the paper under Author Information but not in association with the consortium name itself...
March 16, 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29529282/the-investment-case-for-hepatitis-b-and-c-in-south-africa-adaptation-and-innovation-in-policy-analysis-for-disease-program-scale-up
#19
Robert Hecht, Lindsey Hiebert, Wendy C Spearman, Mark W Sonderup, Teresa Guthrie, Timothy B Hallett, Shevanthi Nayagam, Homie Razavi, Shan Soe-Lin, Kgomotso Vilakazi-Nhlapo, Yogan Pillay, Stephen Resch
Even though WHO has approved global goals for hepatitis elimination, most countries have yet to establish programs for hepatitis B and C, which account for 320 million infections and over a million deaths annually. One reason for this slow response is the paucity of robust, compelling analyses showing that national HBV/HCV programs could have a significant impact on these epidemics and save lives in a cost-effective, affordable manner. In this context, our team used an investment case approach to develop a national hepatitis action plan for South Africa, grounded in a process of intensive engagement of local stakeholders...
May 1, 2018: Health Policy and Planning
https://www.readbyqxmd.com/read/29522175/rare-variant-gene-based-association-study-of-hereditary-melanoma-using-whole-exome-sequencing
#20
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw, Kristen Shannon, Evangelos S Gragoudas, Anne Marie Lane, Vivek Iyer, Julia A Newton-Bishop, D Timothy Bishop, Elizabeth A Holland, Graham J Mann, Tarjinder Singh, Mark J Daly, Hensin Tsao
Background: Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM). Methods: Using 11 990 jointly processed individual DNA samples, whole-exome sequencing was performed, followed by large-scale joint variant calling using GATK (Genome Analysis ToolKit)...
December 1, 2017: Journal of the National Cancer Institute
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