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Mark Daly

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https://www.readbyqxmd.com/read/28736940/seven-year-olds-aggressive-choices-in-a-computer-game-can-be-predicted-in-infancy
#1
Dale F Hay, Mark K Johansen, Peter Daly, Salim Hashmi, Charlotte Robinson, Stephan Collishaw, Stephanie van Goozen
Concerns about the relationship between computer games and children's aggression have been expressed for decades, but it is not yet clear whether the content of such games evokes aggression or a prior history of aggression promotes children's interest in aggressive games. Two hundred and sixty-six 7-year-old children from a nationally representative longitudinal sample in the UK played a novel computer game (CAMGAME) in which the child's avatar encountered a series of social challenges that might evoke aggressive, prosocial or neutral behaviour...
July 24, 2017: Developmental Science
https://www.readbyqxmd.com/read/28693697/-therapeutic-residential-care-for-children-and-youth-a-consensus-statement-of-the-international-work-group-on-therapeutic-residential-care
#2
James K Whittaker, Lisa Holmes, Jorge F Del Valle, Frank Ainsworth, Tore Andreassen, James Anglin, Christopher Bellonci, David Berridge, Amaia Bravo, Cinzia Canali, Mark Courtney, Laurah Currey, Daniel Daly, Robbie Gilligan, Hans Grietens, Annemiek Harder, Martha Holden, Sigrid James, Andrew Kendrick, Erick Knorth, Mette Lausten, John Lyons, Eduardo Martin, Samantha McDermid, Patricia McNamara, Laura Palareti, Susan Ramsey, Kari Sisson, Richard Small, June Thoburn, Ronald Thompson, Anat Zeira
Therapeutic Residential Care for Children and Youth: A Consensus Statement of the International Work Group on Therapeutic Residential Care. In many developed countries around the world residential care interventions for children and adolescents have come under increasing scrutiny. Against this background an international summit was organised in England (spring 2016) with experts from 13 countries to reflect on therapeutic residential care (TRC). The following working definition of TRC was leading: “Therapeutic residential care involves the planful use of a purposefully constructed, multi-dimensional living environment designed to enhance or provide treatment, education, socialization, support, and protection to children and youth with identified mental health or behavioral needs in partnership with their families and in collaboration with a full spectrum of community based formal and informal helping resources”...
August 2017: Psicothema
https://www.readbyqxmd.com/read/28692346/the-validation-of-an-lc-ms-ms-assay-for-perhexiline-and-major-hydroxy-metabolites-and-its-application-to-therapeutic-monitoring-in-patient-plasma
#3
Patrick Camilleri, Duxi Zhang, Mark Midei, William Daly, James Copp, Cindy Flinn, Carl Luongo, Pirouz Shamszad
AIM: Perhexiline (PEX), being developed to treat hypertrophic cardiomyopathy, is toxic at levels above the therapeutic range. Plasma level monitoring is therefore essential. The absence of a UV-absorbing chromophore has in the past required quantitative analysis of PEX in plasma using lengthy derivatization methods, followed by HPLC and fluorescence detection. The routine and urgent analysis of a large number of patient plasma samples necessitates faster and reliable analytical methodology...
July 10, 2017: Bioanalysis
https://www.readbyqxmd.com/read/28677271/telomerase-reverse-transcriptase-germline-mutations-and-hepatocellular-carcinoma-in-patients-with-nonalcoholic-fatty-liver-disease
#4
Benedetta Donati, Alessandro Pietrelli, Piero Pingitore, Paola Dongiovanni, Andrea Caddeo, Lucy Walker, Guido Baselli, Serena Pelusi, Chiara Rosso, Ester Vanni, Ann Daly, Rosellina Margherita Mancina, Antonio Grieco, Luca Miele, Stefania Grimaudo, Antonio Craxi, Salvatore Petta, Laura De Luca, Silvia Maier, Giorgio Soardo, Elisabetta Bugianesi, Fabio Colli, Renato Romagnoli, Quentin M Anstee, Helen L Reeves, Anna Ludovica Fracanzani, Silvia Fargion, Stefano Romeo, Luca Valenti
In an increasing proportion of cases, hepatocellular carcinoma (HCC) develops in patients with nonalcoholic fatty liver disease (NAFLD). Mutations in telomerase reverse transcriptase (hTERT) are associated with familial liver diseases. The aim of this study was to examine telomere length and germline hTERT mutations as associated with NAFLD-HCC. In 40 patients with NAFLD-HCC, 45 with NAFLD-cirrhosis and 64 healthy controls, peripheral blood telomere length was evaluated by qRT-PCR and hTERT coding regions and intron-exon boundaries sequenced...
July 4, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28658384/increase-in-the-burden-of-dengue-in-brazil-and-federated-units-2000-and-2015-analysis-of-the-global-burden-of-disease-study-2015
#5
Valdelaine Etelvina Miranda de Araújo, Juliana Maria Trindade Bezerra, Frederico Figueiredo Amâncio, Valéria Maria de Azeredo Passos, Mariângela Carneiro
Objective: To describe the main metrics on dengue generated by Global Burden of Disease (GBD) Study 2015, for Brazil and its 27 federated units, in the years 2000 and 2015. Methods: The metrics described were: incidence and mortality rates by dengue, standardized by age, years of life lost (YLL), years lived with disability (YLD), and disability-adjusted life years (DALY) (in absolute frequency and age-standardized rates). The estimated metrics were presented with uncertainty intervals (UI 95%) for the years 2000 and 2015, accompanied by the relative percentages of changes...
May 2017: Revista Brasileira de Epidemiologia, Brazilian Journal of Epidemiology
https://www.readbyqxmd.com/read/28658209/fine-mapping-inflammatory-bowel-disease-loci-to-single-variant-resolution
#6
Hailiang Huang, Ming Fang, Luke Jostins, Maša Umićević Mirkov, Gabrielle Boucher, Carl A Anderson, Vibeke Andersen, Isabelle Cleynen, Adrian Cortes, François Crins, Mauro D'Amato, Valérie Deffontaine, Julia Dmitrieva, Elisa Docampo, Mahmoud Elansary, Kyle Kai-How Farh, Andre Franke, Ann-Stephan Gori, Philippe Goyette, Jonas Halfvarson, Talin Haritunians, Jo Knight, Ian C Lawrance, Charlie W Lees, Edouard Louis, Rob Mariman, Theo Meuwissen, Myriam Mni, Yukihide Momozawa, Miles Parkes, Sarah L Spain, Emilie Théâtre, Gosia Trynka, Jack Satsangi, Suzanne van Sommeren, Severine Vermeire, Ramnik J Xavier, Rinse K Weersma, Richard H Duerr, Christopher G Mathew, John D Rioux, Dermot P B McGovern, Judy H Cho, Michel Georges, Mark J Daly, Jeffrey C Barrett
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect millions of people worldwide. Genome-wide association studies have identified 200 inflammatory bowel disease-associated loci, but few have been conclusively resolved to specific functional variants. Here we report fine-mapping of 94 inflammatory bowel disease loci using high-density genotyping in 67,852 individuals. We pinpoint 18 associations to a single causal variant with greater than 95% certainty, and an additional 27 associations to a single variant with greater than 50% certainty...
July 13, 2017: Nature
https://www.readbyqxmd.com/read/28652462/protective-low-frequency-variants-for-preeclampsia-in-the-fms-related-tyrosine-kinase-1-gene-in-the-finnish-population
#7
A Inkeri Lokki, Emma Daly, Michael Triebwasser, Mitja I Kurki, Elisha D O Roberson, Paavo Häppölä, Kirsi Auro, Markus Perola, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Jane E Salmon, Seppo Meri, Mark Daly, John P Atkinson, Hannele Laivuori
Preeclampsia is a common pregnancy-specific vascular disorder characterized by new-onset hypertension and proteinuria during the second half of pregnancy. Predisposition to preeclampsia is in part heritable. It is associated with an increased risk of cardiovascular disease later in life. We have sequenced 124 candidate genes implicated in preeclampsia to pinpoint genetic variants contributing to predisposition to or protection from preeclampsia. First, targeted exomic sequencing was performed in 500 preeclamptic women and 190 controls from the FINNPEC cohort (Finnish Genetics of Preeclampsia Consortium)...
August 2017: Hypertension
https://www.readbyqxmd.com/read/28640769/physiological-profile-and-activity-pattern-of-minor-gaelic-football-players
#8
Bryan D Cullen, Mark T Roantree, Andrew L McCarren, David T Kelly, Paul L OʼConnor, Sarah M Hughes, Pat G Daly, Niall M Moyna
Cullen, BD, Roantree, M, McCarren, A, Kelly, DT, O'Connor, PL, Hughes, SM, Daly, PG, and Moyna1, NM. Physiological profile and activity pattern of minor Gaelic football players. J Strength Cond Res 31(7): 1811-1820, 2017-The purpose of this study was to evaluate the physiological profile and activity pattern in club- and county-level under-18 (U-18) Gaelic football players relative to playing position. Participants (n = 85) were analyzed during 17 official 15-a-side matches using global positioning system technology (SPI Pro X II; GPSports Systems, Canberra, Australia) and heart rate (HR) telemetry...
July 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28588975/economic-valuation-of-the-impact-of-a-large-surgical-charity-using-the-value-of-lost-welfare-approach
#9
Daniel Scott Corlew, Blake C Alkire, Dan Poenaru, John G Meara, Mark G Shrime
BACKGROUND: The assessment of the economic burden of surgical disease is integral to determining allocation of resources for health globally. We estimate the economic gain realised over an 11-year period resulting from a vertical surgical programme addressing cleft lip (CL) and cleft palate (CP). METHODS: The database from a large non-governmental organisation (Smile Train) over an 11-year period was analysed. Incidence-based disability-adjusted life years (DALYs) averted through the programme were calculated, discounted 3%, using disability weights from the Global Burden of Disease (GBD) study and an effectiveness factor for each surgical intervention...
November 2016: BMJ Global Health
https://www.readbyqxmd.com/read/28554474/the-retraction-of-the-protoplast-during-pcd-is-an-active-and-interruptible-calcium-flux-driven-process
#10
Joanna Kacprzyk, Niall P Brogan, Cara T Daly, Siamsa M Doyle, Mark Diamond, Elizabeth M Molony, Paul F McCabe
The protoplast retracts during apoptosis-like programmed cell death (AL-PCD) and, if this retraction is an active component of AL-PCD, it should be used as a defining feature for this type of programmed cell death. We used an array of pharmacological and genetic tools to test if the rates of protoplast retraction in cells undergoing AL-PCD can be modulated. Disturbing calcium flux signalling, ATP synthesis and mitochondrial permeability transition all inhibited protoplast retraction and often also the execution of the death programme...
July 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/28506297/cervical-cancer-treatment-costs-and-cost-effectiveness-analysis-of-human-papillomavirus-vaccination-in-vietnam-a-prime-modeling-study
#11
Hoang Van Minh, Nguyen Thi Tuyet My, Mark Jit
BACKGROUND: Cervical cancer is currently the leading cause of cancer mortality among women in South Vietnam and the second leading cause of cancer mortality in North Vietnam. Human papillomavirus (HPV) vaccination has the potential to substantially decrease this burden. The World Health Organization (WHO) recommends that a cost-effectiveness analysis of HPV vaccination is conducted before nationwide introduction. METHODS: The Papillomavirus Rapid Interface for Modeling and Economics (PRIME) model was used to evaluate the cost-effectiveness of HPV vaccine introduction...
May 15, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28504703/polygenic-transmission-disequilibrium-confirms-that-common-and-rare-variation-act-additively-to-create-risk-for-autism-spectrum-disorders
#12
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm, Thomas Werge, David M Hougaard, Jacob Taylor, David Skuse, Bernie Devlin, Richard Anney, Stephan J Sanders, Somer Bishop, Preben Bo Mortensen, Anders D Børglum, George Davey Smith, Mark J Daly, Elise B Robinson
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD...
July 2017: Nature Genetics
https://www.readbyqxmd.com/read/28496332/epithelial-to-mesenchymal-transition-correlates-with-gefitinib-resistance-in-nsclc-cells-and-the-liver-x-receptor-ligand-gw3965-reverses-gefitinib-resistance-through-inhibition-of-vimentin
#13
Yong Hu, Jialan Zang, Xiaobing Qin, Dali Yan, Haixia Cao, Leilei Zhou, Jie Ni, Shaorong Yu, Jianzhong Wu, Ji-Feng Feng
The role of epithelial-to-mesenchymal transition in cancer drug resistance is increasingly acknowledged. We examined whether epithelial-to-mesenchymal transition affects gefitinib resistance in non-small cell lung cancer (NSCLC) cells. Cell viability was detected by CCK-8 assay, VIM expression levels were determined by quantitative real-time polymerase chain reaction. Western blot and immunocytochemistry were performed to determine the protein expression level of vimentin. We observed morphologic differences between gefitinib-sensitive and -insensitive cells...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28494655/significant-locus-and-metabolic-genetic-correlations-revealed-in-genome-wide-association-study-of-anorexia-nervosa
#14
Laramie Duncan, Zeynep Yilmaz, Helena Gaspar, Raymond Walters, Jackie Goldstein, Verneri Anttila, Brendan Bulik-Sullivan, Stephan Ripke, Laura Thornton, Anke Hinney, Mark Daly, Patrick F Sullivan, Eleftheria Zeggini, Gerome Breen, Cynthia M Bulik
OBJECTIVE: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. METHOD: Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3) in 12 case-control cohorts comprising 3,495 anorexia nervosa cases and 10,982 controls, the authors performed standard association analysis followed by a meta-analysis across cohorts...
May 12, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28469926/primary-hypertrophic-osteoarthropathy-due-to-a-novel-slco2a1-mutation-masquerading-as-acromegaly
#15
Ruth Mangupli, Adrian F Daly, Elvia Cuauro, Paul Camperos, Jaime Krivoy, Albert Beckers
SUMMARY: A 20-year-old man with an 8-year history of progressive enlargement of his hands and feet, coarsening facial features, painful joints and thickened, oily skin was referred for investigation of acromegaly. On examination, the subject was of normal height and weight. He had markedly increased skin thickness around the forehead, eyelids and scalp with redundant skin folds. Bilateral painful knee swelling was accompanied by enlargement of the extremities, and his fingers were markedly clubbed...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28468605/universal-test-treat-and-keep-improving-art-retention-is-key-in-cost-effective-hiv-control-in-uganda
#16
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: With ambitious new UNAIDS targets to end AIDS by 2030, and new WHO treatment guidelines, there is increased interest in the best way to scale-up ART coverage. We investigate the cost-effectiveness of various ART scale-up options in Uganda. METHODS: Individual-based HIV/ART model of Uganda, calibrated using history matching. 22 ART scale-up strategies were simulated from 2016 to 2030, comprising different combinations of six single interventions (1. increased HIV testing rates, 2...
May 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28438507/cardiothoracic-transplant-recipient-mycoplasma-hominis-an-uncommon-infection-with-probable-donor-transmission
#17
Rahul Sampath, Robin Patel, Scott A Cunningham, Sana Arif, Richard C Daly, Andrew D Badley, Mark E Wylam
The role of infection with Mycoplasma hominis following cardiothoracic organ transplantation and its source of transmission have not been well-defined. Here, we identify and describe infection with M. hominis in patients following cardiothoracic organ transplantation after reviewing all cardiothoracic transplantations performed at our center between 1998 and July 2015. We found seven previously unreported cases of M. hominis culture positive infection all of whom presented with pleuritis, surgical site infection, and/or mediastinitis...
May 2017: EBioMedicine
https://www.readbyqxmd.com/read/28406212/human-knockouts-and-phenotypic-analysis-in-a-cohort-with-a-high-rate-of-consanguinity
#18
Danish Saleheen, Pradeep Natarajan, Irina M Armean, Wei Zhao, Asif Rasheed, Sumeet A Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H O'Donnell-Luria, Kaitlin E Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M Krauss, Daniel G MacArthur, Stacey Gabriel, Eric S Lander, Mark J Daly, Philippe Frossard, John Danesh, Daniel J Rader, Sekar Kathiresan
A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene function. Consanguineous unions are more likely to result in offspring carrying homozygous loss-of-function mutations. In Pakistan, consanguinity rates are notably high. Here we sequence the protein-coding regions of 10,503 adult participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS), designed to understand the determinants of cardiometabolic diseases in individuals from South Asia...
April 12, 2017: Nature
https://www.readbyqxmd.com/read/28372592/a-comparative-analysis-of-the-foamy-and-ortho-virus-capsid-structures-reveals-an-ancient-domain-duplication
#19
William R Taylor, Jonathan P Stoye, Ian A Taylor
BACKGROUND: The Spumaretrovirinae (foamy viruses) and the Orthoretrovirinae (e.g. HIV) share many similarities both in genome structure and the sequences of the core viral encoded proteins, such as the aspartyl protease and reverse transcriptase. Similarity in the gag region of the genome is less obvious at the sequence level but has been illuminated by the recent solution of the foamy virus capsid (CA) structure. This revealed a clear structural similarity to the orthoretrovirus capsids but with marked differences that left uncertainty in the relationship between the two domains that comprise the structure...
April 4, 2017: BMC Structural Biology
https://www.readbyqxmd.com/read/28369035/estimating-the-selective-effects-of-heterozygous-protein-truncating-variants-from-human-exome-data
#20
Christopher A Cassa, Donate Weghorn, Daniel J Balick, Daniel M Jordan, David Nusinow, Kaitlin E Samocha, Anne O'Donnell-Luria, Daniel G MacArthur, Mark J Daly, David R Beier, Shamil R Sunyaev
The evolutionary cost of gene loss is a central question in genetics and has been investigated in model organisms and human cell lines. In humans, tolerance of the loss of one or both functional copies of a gene is related to the gene's causal role in disease. However, estimates of the selection and dominance coefficients in humans have been elusive. Here we analyze exome sequence data from 60,706 individuals to make genome-wide estimates of selection against heterozygous loss of gene function. Using this distribution of selection coefficients for heterozygous protein-truncating variants (PTVs), we provide corresponding Bayesian estimates for individual genes...
May 2017: Nature Genetics
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