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https://www.readbyqxmd.com/read/29502920/newborn-screening-history-current-status-and-future-directions
#1
REVIEW
Ayman W El-Hattab, Mohammed Almannai, V Reid Sutton
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce significant morbidity and mortality. Many of the conditions included in the newborn screening panels are inborn errors of metabolism; however, screening for endocrine, hematologic, immunologic, and cardiovascular diseases, and hearing loss is also included in many panels. Newborn screening tests are not diagnostic and therefore diagnostic testing is needed to confirm or exclude the suspected diagnosis...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29472518/mass-spectrometry-based-proteomics-reveals-potential-roles-of-nek9-and-map2k4-in-resistance-to-pi3k-inhibitors-in-triple-negative-breast-cancers
#2
Filip Mundt, Sandeep Rajput, Shunqiang Li, Kelly V Ruggles, Arshag D Mooradian, Philipp Mertins, Michael A Gillette, Karsten Krug, Zhanfang Guo, Jeremy Hoog, Petra Erdmann-Gilmore, Tina Primeau, Shixia Huang, Dean P Edwards, Xiaowei Wang, Xuya Wang, Emily Kawaler, D R Mani, Karl R Clauser, Feng Gao, Jingqin Luo, Sherri R Davies, Gary L Johnson, Kuan-Lin Huang, Christopher J Yoon, Li Ding, David Fenyö, Matthew J Ellis, R Reid Townsend, Jason M Held, Steven A Carr, Cynthia X Ma
Activation of phosphoinositide 3-kinase (PI3K) signaling is frequently observed in triple-negative breast cancer (TNBC), yet PI3K inhibitors have shown limited clinical activity. To investigate intrinsic and adaptive mechanisms of resistance, we analyzed a panel of patient-derived xenograft models of TNBC with varying responsiveness to buparlisib, a pan-PI3K inhibitor. In a subset of patient-derived xenografts, resistance was associated with incomplete inhibition of PI3K signaling and upregulated MAPK/MEK signaling in response to buparlisib...
February 22, 2018: Cancer Research
https://www.readbyqxmd.com/read/29357188/can-one-simple-questionnaire-assess-substance-related-and-behavioural-addiction-problems-results-of-a-proposed-new-screener-for-community-epidemiology
#3
Magdalen G Schluter, David C Hodgins, Jody Wolfe, T Cameron Wild
BACKGROUND AND AIMS: There is currently no well-validated measure that assesses a broad spectrum of substance-related and behavioural addictions in general populations. This study aimed to develop a brief self-attribution Screener for Substance and Behavioural Addictions (SSBA) to screen for 4 substances and 6 behaviours, and to compare its performance with established individual-behaviour screening instruments. DESIGN: A small, psychometrically optimal set of items to assess self-attributed indicators of addiction across alcohol, tobacco, cannabis, cocaine, gambling, shopping, videogaming, overeating, sexual activity, and over-working were identified from a broader pool that was developed using a lay epidemiology qualitative approach...
January 22, 2018: Addiction
https://www.readbyqxmd.com/read/29335277/adverse-effects-of-caffeinated-energy-drinks-among-youth-and-young-adults-in-canada-a-web-based-survey
#4
David Hammond, Jessica L Reid, Sara Zukowski
BACKGROUND: Energy drink consumption has increased dramatically among young Canadians, with anecdotal evidence of adverse health effects. There is a lack of population-based studies to examine the prevalence of adverse events from energy drinks, particularly among young people. The current study sought to assess adverse events from energy drinks among a population-based sample of youth and young adults in Canada. METHODS: An online survey was conducted in 2015 with a national sample of youth (aged 12-17 yr) and young adults (aged 18-24 yr) recruited from a consumer panel...
January 9, 2018: CMAJ Open
https://www.readbyqxmd.com/read/29298494/development-of-a-community-based-palliative-care-screening-tool-for-underserved-older-adults-with-chronic-illnesses
#5
Angela Ghesquiere, Daniel S Gardner, Caitlin McAfee, Cara Kenien, Elizabeth Capezuti, Elissa Kozlov, Jo Anne Sirey, M Carrington Reid
Although they experience high rates of chronic illness, low-income minority communities have traditionally underutilized palliative care services compared to whites and those with higher incomes. One reason for this trend is lack of screening by community providers. We utilized a community-based participatory research approach to develop and implement an innovative multidomain palliative care screening tool in aging service agencies. Participants were aging service providers and clients in the East and Central Harlem neighborhoods of New York City, which are characterized by high poverty, largely African American and Latino populations, disproportionally high rates of chronic conditions, and limited health-care access...
January 1, 2018: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/29296819/impact-of-genomic-alterations-on-outcomes-in-myelofibrosis-patients-undergoing-jak1-2-inhibitor-therapy
#6
Jay Y Spiegel, Caroline McNamara, James A Kennedy, Tony Panzarella, Andrea Arruda, Tracy Stockley, Mahadeo Sukhai, Mariam Thomas, Justyna Bartoszko, Jenny Ho, Nancy Siddiq, Dawn Maze, Aaron Schimmer, Andre Schuh, Hassan Sibai, Karen Yee, Jamie Claudio, Rebecca Devlin, Mark D Minden, Suzanne Kamel-Reid, Vikas Gupta
In myelofibrosis (MF), driver mutations in JAK2, MPL, or CALR impact survival and progression to blast phase, with the greatest risk conferred by triple-negative status. Subclonal mutations, including mutations in high-molecular risk (HMR) genes, such as ASXL1, EZH2, IDH1/2, and SRSF2 have also been associated with inferior prognosis. However, data evaluating the impact of next-generation sequencing in MF patients treated with JAK1/2 inhibitors are lacking. Using a 54-gene myeloid panel, we performed targeted sequencing on 100 MF patients treated with ruxolitinib (n = 77) or momelotinib (n = 23) and correlated mutational profiles with treatment outcomes...
September 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29223984/nccn-guidelines-insights-genetic-familial-high-risk-assessment-colorectal-version-3-2017
#7
Samir Gupta, Dawn Provenzale, Scott E Regenbogen, Heather Hampel, Thomas P Slavin, Michael J Hall, Xavier Llor, Daniel C Chung, Dennis J Ahnen, Travis Bray, Gregory Cooper, Dayna S Early, James M Ford, Francis M Giardiello, William Grady, Amy L Halverson, Stanley R Hamilton, Jason B Klapman, David W Larson, Audrey J Lazenby, Patrick M Lynch, Arnold J Markowitz, Robert J Mayer, Reid M Ness, Niloy Jewel Samadder, Moshe Shike, Shajanpeter Sugandha, Jennifer M Weiss, Mary A Dwyer, Ndiya Ogba
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the management of patients with high-risk syndromes associated with an increased risk of colorectal cancer (CRC). The NCCN Panel for Genetic/Familial High-Risk Assessment: Colorectal meets at least annually to assess comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on genes newly associated with CRC risk on multigene panels, the associated evidence, and currently recommended management strategies...
December 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29177603/impact-of-multi-gene-mutational-profiling-on-clinical-trial-outcomes-in-metastatic-breast-cancer
#8
Rossanna C Pezo, Tom W Chen, Hal K Berman, Anna M Mulligan, Albiruni A Razak, Lillian L Siu, David W Cescon, Eitan Amir, Christine Elser, David G Warr, Srikala S Sridhar, Celeste Yu, Lisa Wang, Tracy L Stockley, Suzanne Kamel-Reid, Philippe L Bedard
PURPOSE: Next-generation sequencing (NGS) has identified recurrent genomic alterations in metastatic breast cancer (MBC); however, the clinical utility of incorporating routine sequencing to guide treatment decisions in this setting is unclear. We examine the frequency of genomic alterations in MBC patients from academic and community hospitals and correlate with clinical outcomes. METHODS: MBC patients with good performance status were prospectively recruited at the Princess Margaret Cancer Centre (PM) in Canada...
February 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29151382/exposure-and-perceptions-of-marketing-for-caffeinated-energy-drinks-among-young-canadians
#9
David Hammond, Jessica L Reid
OBJECTIVE: To examine exposure to energy drink marketing among youth and young adults, and test perceptions of energy drink advertisements (ads) regarding target audience age and promoting energy drink use during sports. DESIGN: A between-group experiment randomly assigned respondents to view one of four energy drink ads (sport-themed or control) and assessed perceptions of the ad. Regression models examined marketing exposure and perceptions. SETTING: Online survey (2014)...
February 2018: Public Health Nutrition
https://www.readbyqxmd.com/read/29128266/molecular-profiling-of-patients-with-advanced-colorectal-cancer-princess-margaret-cancer-centre-experience
#10
Joanne W Chiu, Monika K Krzyzanowska, Stefano Serra, Jennifer J Knox, Neesha C Dhani, Helen Mackay, David Hedley, Malcolm Moore, Geoffrey Liu, Ronald L Burkes, Christine Brezden-Masley, Michael H Roehrl, Kenneth J Craddock, Ming-Sound Tsao, Tong Zhang, Celeste Yu, Suzanne Kamel-Reid, Lillian L Siu, Philippe L Bedard, Eric X Chen
BACKGROUND: Molecular aberrations in KRAS, NRAS, BRAF, and PIK3CA have been well-described in advanced colorectal cancer. The incidences of other mutations are less known. We report results of molecular profiling of advanced colorectal cancer in an academic cancer center. PATIENTS AND METHODS: Patients with advanced colorectal were enrolled in an institution-wide molecular profiling program. Profiling was performed on formalin-fixed paraffin embedded archival tissues using a customized MassArray panel (23 genes, 279 mutations) or the Illumina MiSeq TruSeq Cancer Panel (48 genes, 212 amplicons, ≥ 500× coverage) in a Clinical Laboratory Improvement Amendments-certified laboratory...
October 23, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29095123/charting-our-course-chaplain-documentation-as-a-performance-improvement-project
#11
Alexander Tartaglia, Timothy Ford, Diane Dodd-McCue, Christine Reid, Carolyn Hawley, Alma Hassell
This article presents the results of a 30-month process improvement initiative examining the spiritual assessment documentation patterns of staff chaplains as well as CPE residents and interns at an academic medical center. Preliminary examination of chaplain documentation patterns led to a multidimensional intervention to address perceived documentation limitations and enhance reliability. The intervention resulted in positive changes in documentation patterns as assessed by an expert panel of experienced chaplains...
November 2, 2017: Journal of Health Care Chaplaincy
https://www.readbyqxmd.com/read/28904746/discovery-and-characterization-of-single-nucleotide-polymorphisms-in-two-anadromous-alosine-fishes-of-conservation-concern
#12
Diana S Baetscher, Daniel J Hasselman, Kerry Reid, Eric P Palkovacs, John Carlos Garza
Freshwater habitat alteration and marine fisheries can affect anadromous fish species, and populations fluctuating in size elicit conservation concern and coordinated management. We describe the development and characterization of two sets of 96 single nucleotide polymorphism (SNP) assays for two species of anadromous alosine fishes, alewife and blueback herring (collectively known as river herring), that are native to the Atlantic coast of North America. We used data from high-throughput DNA sequencing to discover SNPs and then developed molecular genetic assays for genotyping sets of 96 individual loci in each species...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28891048/identifying-actionable-variants-using-next-generation-sequencing-in-patients-with-a-historical-diagnosis-of-undifferentiated-pleomorphic-sarcoma
#13
Jeremy Lewin, Swati Garg, Beatrice Y Lau, Brendan C Dickson, Frank Traub, Nalan Gokgoz, Anthony M Griffin, Peter C Ferguson, Irene L Andrulis, Hao-Wen Sim, Suzanne Kamel-Reid, Tracy L Stockley, Lillian L Siu, Jay S Wunder, Albiruni R A Razak
There are limited data regarding the molecular characterization of undifferentiated pleomorphic sarcomas (UPS; formerly malignant fibrous histiocytoma). This study aimed to investigate the utility of next generation sequencing (NGS) in UPS to identify subsets of patients who harbour actionable mutations. Patients diagnosed with UPS underwent pathological re-evaluation by a pathologist specializing in sarcoma. Tumor DNA was isolated from archived fresh frozen tissue samples and genotyped using NGS with the Illumina MiSeq TruSeq Amplicon Cancer Panel (48 genes, 212 amplicons)...
January 1, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28889351/multidimensional-phenotyping-of-breast-cancer-cell-lines-to-guide-preclinical-research
#14
Jodi M Saunus, Chanel E Smart, Jamie R Kutasovic, Rebecca L Johnston, Priyakshi Kalita-de Croft, Mariska Miranda, Esdy N Rozali, Ana Cristina Vargas, Lynne E Reid, Eva Lorsy, Sibylle Cocciardi, Tatjana Seidens, Amy E McCart Reed, Andrew J Dalley, Leesa F Wockner, Julie Johnson, Debina Sarkar, Marjan E Askarian-Amiri, Peter T Simpson, Kum Kum Khanna, Georgia Chenevix-Trench, Fares Al-Ejeh, Sunil R Lakhani
PURPOSE: Cell lines are extremely useful tools in breast cancer research. Their key benefits include a high degree of control over experimental variables and reproducibility. However, the advantages must be balanced against the limitations of modelling such a complex disease in vitro. Informed selection of cell line(s) for a given experiment now requires essential knowledge about molecular and phenotypic context in the culture dish. METHODS: We performed multidimensional profiling of 36 widely used breast cancer cell lines that were cultured under standardised conditions...
September 9, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28801348/incidental-detection-of-germline-variants-of-potential-clinical-significance-by-massively-parallel-sequencing-in-haematological-malignancies
#15
Costas K Yannakou, Kate Jones, Georgina L Ryland, Ella R Thompson, Gareth Reid, Michelle McBean, Alison Trainer, David Westerman, Piers Blombery
Massively parallel sequencing (MPS) technology has become routinely available for diagnosis, prognostication and therapeutic decision-making in haematological malignancies. However, increased throughput and wider coverage of genes can have unintended consequences. Germline variants of potential clinical significance (GVPCSs) detected during cancer testing may have implications for patients and families beyond the biological evaluation of a specific tumour. 721 reports generated from MPS panels used in the routine testing of myeloid and lymphoid malignancies were reviewed and variants within genes of potential germline relevance (TP53, RUNX1, GATA2 and WT1 in all contexts and CBL, KRAS and NRAS in the setting of juvenile myelomonocytic leukaemia) were analysed...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28755982/use-and-perceptions-of-caffeinated-energy-drinks-and-energy-shots-in-canada
#16
Danielle Wiggers, Jessica L Reid, Christine M White, David Hammond
INTRODUCTION: In Canada, energy drinks and energy shots are currently classified and regulated differently (food and drugs versus natural health products, respectively), on the assumption that they are used and perceived differently. The current study examined potential differences in use and perceptions of energy drinks and shots. METHODS: An online survey was conducted in 2015 using a national commercial online panel of youth and young adults aged 12-24 years (n=2,040 retained for analysis in 2016)...
July 26, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28726809/genomic-diagnostics-within-a-medically-underserved-population-efficacy-and-implications
#17
Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner, Erik G Puffenberger
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998 and 2015 remained undiagnosed after biochemical and molecular investigations. We generated WES data for probands and family members and vetted variants through rephenotyping, segregation analyses, and population studies.ResultsThe most common presentation was neurological disease (64%)...
January 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28616249/quality-of-care-for-patients-with-chronic-kidney-disease-in-the-primary-care-setting-a-retrospective-cohort-study-from-ontario-canada
#18
Danielle M Nash, Scott Brimble, Maureen Markle-Reid, Eric McArthur, Karen Tu, Gihad E Nesrallah, Allan Grill, Amit X Garg
BACKGROUND: Patients with chronic kidney disease may not be receiving recommended primary renal care. OBJECTIVE: To use recently established primary care quality indicators for chronic kidney disease to determine the proportion of patients receiving recommended renal care. DESIGN: Retrospective cohort study using administrative data with linked laboratory information. SETTING: The study was conducted in Ontario, Canada, from 2006 to 2012...
2017: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/28611480/expert-consensus-document-the-international-scientific-association-for-probiotics-and-prebiotics-isapp-consensus-statement-on-the-definition-and-scope-of-prebiotics
#19
REVIEW
Glenn R Gibson, Robert Hutkins, Mary Ellen Sanders, Susan L Prescott, Raylene A Reimer, Seppo J Salminen, Karen Scott, Catherine Stanton, Kelly S Swanson, Patrice D Cani, Kristin Verbeke, Gregor Reid
In December 2016, a panel of experts in microbiology, nutrition and clinical research was convened by the International Scientific Association for Probiotics and Prebiotics to review the definition and scope of prebiotics. Consistent with the original embodiment of prebiotics, but aware of the latest scientific and clinical developments, the panel updated the definition of a prebiotic: a substrate that is selectively utilized by host microorganisms conferring a health benefit. This definition expands the concept of prebiotics to possibly include non-carbohydrate substances, applications to body sites other than the gastrointestinal tract, and diverse categories other than food...
August 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28557600/integration-of-technical-bioinformatic-and-variant-assessment-approaches-in-the-validation-of-a-targeted-next-generation-sequencing-panel-for-myeloid-malignancies
#20
Mariam Thomas, Mahadeo A Sukhai, Tong Zhang, Roozbeh Dolatshahi, Djamel Harbi, Swati Garg, Maksym Misyura, Trevor Pugh, Tracy L Stockley, Suzanne Kamel-Reid
CONTEXT: - Detection of variants in hematologic malignancies is increasingly important because of a growing number of variants impacting diagnosis, prognosis, and treatment response, and as potential therapeutic targets. The use of next-generation sequencing technologies to detect variants in hematologic malignancies in a clinical diagnostic laboratory setting allows for efficient identification of routinely tested markers in multiple genes simultaneously, as well as the identification of novel and rare variants in other clinically relevant genes...
June 2017: Archives of Pathology & Laboratory Medicine
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