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https://www.readbyqxmd.com/read/28904746/discovery-and-characterization-of-single-nucleotide-polymorphisms-in-two-anadromous-alosine-fishes-of-conservation-concern
#1
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
#2
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 Siu, Jay S Wunder, Albiruni Ra 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)...
September 10, 2017: 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
#3
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
#4
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
#5
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
#6
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%)...
July 20, 2017: 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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28505002/immunohistochemical-classification-of-ampullary-carcinomas-critical-reappraisal-fails-to-confirm-prognostic-relevance-for-recently-proposed-panels-and-highlights-muc5ac-as-a-strong-prognosticator
#10
Yue Xue, Michelle D Reid, Serdar Balci, Brian Quigley, Takashi Muraki, Bahar Memis, Jun Xia, Ezgi Hacihasanoglu, Gabriela Bedolla, Burcin Pehlivanoglu, Grace E Kim, Takuma Tajiri, Nobuyike Ohike, Ritu Aneja, Alyssa M Krasinskas, Volkan Adsay
Recently, immunohistochemistry-based classifications of ampullary carcinomas have been proposed (Ang and colleagues [PMID: 24832159]; Chang and colleagues [PMID: 23439753]). In this study, the prognostic value of Ang/Chang panel markers (CK20, MUC1, MUC2, CDX2) as well as other markers (CK7, MUC5AC, and MUC6) were tested on full-faced sections of 136 ampullary carcinoma resections with substantial (>5 mm) invasion. Immunohistochemistry was correlated with both histologic classification (intestinal [INT], pancreatobiliary [PB], or nontubular based on ≥3/5 observer agreement) and clinical outcome...
July 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28500955/economic-evaluation-of-nurse-practitioner-and-clinical-nurse-specialist-roles-a-methodological-review
#11
Elena Lopatina, Faith Donald, Alba DiCenso, Ruth Martin-Misener, Kelley Kilpatrick, Denise Bryant-Lukosius, Nancy Carter, Kim Reid, Deborah A Marshall
BACKGROUND: Advanced practice nurses (e.g., nurse practitioners and clinical nurse specialists) have been introduced internationally to increase access to high quality care and to tackle increasing health care expenditures. While randomised controlled trials and systematic reviews have demonstrated the effectiveness of nurse practitioner and clinical nurse specialist roles, their cost-effectiveness has been challenged. The poor quality of economic evaluations of these roles to date raises the question of whether current economic evaluation guidelines are adequate when examining their cost-effectiveness...
May 4, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28490924/improving-molecular-testing-and-personalized-medicine-in-non-small-cell-lung-cancer-in-ontario
#12
C Lim, H S Sekhon, J C Cutz, D M Hwang, S Kamel-Reid, R F Carter, G da Cunha Santos, T Waddell, M Binnie, M Patel, N Paul, T Chung, A Brade, R El-Maraghi, C Sit, M S Tsao, N B Leighl
BACKGROUND: Although molecular testing has become standard in managing advanced nonsquamous non-small-cell lung cancer (nsclc), most patients undergo minimally invasive procedures, and the diagnostic tumour specimens available for testing are usually limited. A knowledge translation initiative to educate diagnostic specialists about sampling techniques and laboratory processes was undertaken to improve the uptake and application of molecular testing in advanced lung cancer. METHODS: A multidisciplinary panel of physician experts including pathologists, respirologists, interventional thoracic radiologists, thoracic surgeons, medical oncologists, and radiation oncologists developed a specialty-specific education program, adapting international clinical guidelines to the local Ontario context...
April 2017: Current Oncology
https://www.readbyqxmd.com/read/28448118/diamide-inhibitors-of-the-bacillus-subtilis-n-acetylglucosaminidase-lytg-that-exhibit-antibacterial-activity
#13
Saman Nayyab, Mary O'Connor, Jennifer Brewster, James Gravier, Mitchell Jamieson, Ethan Magno, Ryan D Miller, Drew Phelan, Keyana Roohani, Paul Williard, Amit Basu, Christopher W Reid
N-Acetylglucosaminidases (GlcNAcases) play an important role in the remodeling and recycling of bacterial peptidoglycan by degrading the polysaccharide backbone. Genetic deletions of autolysins can impair cell division and growth, suggesting an opportunity for using small molecule autolysin inhibitors both as tools for studying the chemical biology of autolysins and also as antibacterial agents. We report here the synthesis and evaluation of a panel of diamides that inhibit the growth of Bacillus subtilis. Two compounds, fgkc (21) and fgka (5), were found to be potent inhibitors (MIC 3...
June 9, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28357154/vaccine-hesitancy-in-search-of-the-risk-communication-comfort-zone
#14
Joshua Greenberg, Eve Dubé, Michelle Driedger
INTRODUCTION: This paper reports the findings of a national online survey to parents of children aged 5 and younger. The objectives of the study were to assess parental understanding of childhood immunizations, identify sources of information that they trust for vaccine-related content, assess where parents with young children stand on the key issues in the public debate about vaccination, and identify which risk communication messages are most effective for influencing the behaviours of vaccine hesitant parents...
March 3, 2017: PLoS Currents
https://www.readbyqxmd.com/read/28341590/guidelines-for-validation-of-next-generation-sequencing-based-oncology-panels-a-joint-consensus-recommendation-of-the-association-for-molecular-pathology-and-college-of-american-pathologists
#15
REVIEW
Lawrence J Jennings, Maria E Arcila, Christopher Corless, Suzanne Kamel-Reid, Ira M Lubin, John Pfeifer, Robyn L Temple-Smolkin, Karl V Voelkerding, Marina N Nikiforova
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish analytical validation best practice guidelines for NGS gene panel testing of somatic variants, a working group was convened by the Association of Molecular Pathology with liaison representation from the College of American Pathologists. These joint consensus recommendations address NGS test development, optimization, and validation, including recommendations on panel content selection and rationale for optimization and familiarization phase conducted before test validation; utilization of reference cell lines and reference materials for evaluation of assay performance; determining of positive percentage agreement and positive predictive value for each variant type; and requirements for minimal depth of coverage and minimum number of samples that should be used to establish test performance characteristics...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28329340/baseline-characteristics-of-participants-in-the-aspree-aspirin-in-reducing-events-in-the-elderly-study
#16
John J McNeil, Robyn L Woods, Mark R Nelson, Anne M Murray, Christopher M Reid, Brenda Kirpach, Elsdon Storey, Raj C Shah, Rory S Wolfe, Andrew M Tonkin, Anne B Newman, Jeff D Williamson, Jessica E Lockery, Karen L Margolis, Michael E Ernst, Walter P Abhayaratna, Nigel Stocks, Sharyn M Fitzgerald, Ruth E Trevaks, Suzanne G Orchard, Lawrence J Beilin, Geoffrey A Donnan, Peter Gibbs, Colin I Johnston, Richard H Grimm
Background: There are no primary prevention trials of aspirin with relevant geriatric outcomes in elderly people. ASPirin in Reducing Events in the Elderly (ASPREE) is a placebo-controlled trial of low-dose aspirin that will determine whether 5 years of daily 100-mg enteric-coated aspirin extends disability-free and dementia-free life in a healthy elderly population and whether these benefits outweigh the risks. Methods: Set in primary care, this randomized double-blind placebo-controlled trial has a composite primary endpoint of death, incident dementia or persistent physical disability...
January 20, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28217853/use-of-cytological-samples-of-metastatic-melanoma-for-ancillary-studies
#17
H M Ko, M A Saieg, G da Cunha Santos, S Kamel-Reid, S L Boerner, W R Geddie
OBJECTIVE: Fine needle aspiration (FNA) is widely used in the diagnosis of metastatic melanoma, both at initial presentation and in the setting of recurrent disease. The purpose of this study was to evaluate the performance of confirmatory immunohistochemistry (IHC) and molecular analysis of the BRAF mutation in cytological preparations of metastatic melanoma. METHODS: A 2-year retrospective review of pathology reports was performed on cytological samples of metastatic melanoma at the University Health Network (Toronto, Canada) and the Santa Casa Medical School (Sao Paulo, Brazil)...
February 20, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/28062115/genotype-matched-treatment-for-patients-with-advanced-type-i-epithelial-ovarian-cancer-eoc
#18
A Spreafico, A M Oza, B A Clarke, H J Mackay, P Shaw, M Butler, N C Dhani, S Lheureux, M K Wilson, S Welch, T Zhang, C Yu, T Stockley, L L Siu, S Kamel-Reid, P L Bedard
BACKGROUND: Genomic alterations that activate the MAPK signaling pathway frequently occur in Type I Epithelial Ovarian Cancers (EOCs). We evaluated therapeutic response outcomes in patients with type I EOC treated with genotype-matched therapy on clinical trials enrolled in a prospective molecular profiling program. MATERIAL AND METHODS: Formalin fixed paraffin embedded tumor tissues were prospectively screened for genomic alterations using MALDI-ToF mass-spectrometry platform or targeted sequencing using the Illumina MiSeq TruSeq Amplicon Cancer Panel...
February 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/27994733/identification-synthesis-and-biological-evaluation-of-the-major-human-metabolite-of-nlrp3-inflammasome-inhibitor-mcc950
#19
Manohar Salla, Mark S Butler, Ruby Pelingon, Geraldine Kaeslin, Daniel E Croker, Janet C Reid, Jong Min Baek, Paul V Bernhardt, Elizabeth M J Gillam, Matthew A Cooper, Avril A B Robertson
MCC950 is an orally bioavailable small molecule inhibitor of the NOD-like receptor pyrin domain-containing protein 3 (NLRP3) inflammasome that exhibits remarkable activity in multiple models of inflammatory disease. Incubation of MCC950 with human liver microsomes, and subsequent analysis by HPLC-MS/MS, revealed a major metabolite, where hydroxylation of MCC950 had occurred on the 1,2,3,5,6,7-hexahydro-s-indacene moiety. Three possible regioisomers were synthesized, and coelution using HPLC-MS/MS confirmed the structure of the metabolite...
December 8, 2016: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/27920973/consumption-of-caffeinated-energy-drinks-among-youth-and-young-adults-in-canada
#20
Jessica L Reid, Cassondra McCrory, Christine M White, Chantal Martineau, Pat Vanderkooy, Nancy Fenton, David Hammond
The growing market for caffeinated energy drinks (CEDs) has caused concern about excessive caffeine intake and potential adverse effects, particularly among young people. The current study examined patterns of CED consumption among youth and young adults in Canada, using data from a national online survey conducted in October 2014. Data from a non-probability sample of 2040 respondents aged 12-24 from a consumer panel was weighted to national proportions; measures of CED consumption were estimated, including prevalence, excessive daily consumption, and context for use (locations and reasons)...
March 2017: Preventive Medicine Reports
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