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https://www.readbyqxmd.com/read/28215031/orexin-a-missing-link-between-sleep-disorders-and-heart-failure
#1
REVIEW
Stephen Pan, Carolina S Cabral, Euan A Ashley, Marco V Perez
PURPOSE OF REVIEW: Sleep disorders represent a significant comorbidity in the heart failure population, and there is mounting evidence that treatment of sleep disorders such as obstructive sleep apnea can significantly improve cardiac function. However, the link between these two disorders is still not entirely clear. RECENT FINDINGS: Recently, a novel neurohormonal pathway has been elucidated involving signaling molecules now collectively known as the orexins, which have been implicated in regulating autonomic function during sleep/wake cycles...
February 18, 2017: Current Heart Failure Reports
https://www.readbyqxmd.com/read/28157539/the-undiagnosed-diseases-network-accelerating-discovery-about-health-and-disease
#2
Rachel B Ramoni, John J Mulvihill, David R Adams, Patrick Allard, Euan A Ashley, Jonathan A Bernstein, William A Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T McCray, Vandana Shashi, Cynthia J Tifft, Anastasia L Wise
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund supports the Undiagnosed Diseases Network (UDN) as an exemplar of this model of precise diagnosis. Its goals are to forge a strategy to accelerate the diagnosis of rare or previously unrecognized diseases, to improve recommendations for clinical management, and to advance research, especially into disease mechanisms...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28137961/next-generation-sequencing-in-cardiovascular-disease-present-clinical-applications-and-the-horizon-of-precision-medicine
#3
Victoria N Parikh, Euan A Ashley
No abstract text is available yet for this article.
January 31, 2017: Circulation
https://www.readbyqxmd.com/read/28050602/exome-sequencing-identifies-de-novo-pathogenic-variants-in-fbn1-and-trps1-in-a-patient-with-a-complex-connective-tissue-phenotype
#4
Diane B Zastrow, Patricia A Zornio, Annika Dries, Jennefer Kohler, Liliana Fernandez, Daryl Waggott, Magdalena Walkiewicz, Christine M Eng, Melanie A Manning, Ellyn Farrelly, Paul G Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27973671/feasibility-of-obtaining-measures-of-lifestyle-from-a-smartphone-app-the-myheart-counts-cardiovascular-health-study
#5
Michael V McConnell, Anna Shcherbina, Aleksandra Pavlovic, Julian R Homburger, Rachel L Goldfeder, Daryl Waggot, Mildred K Cho, Mary E Rosenberger, William L Haskell, Jonathan Myers, Mary Ann Champagne, Emmanuel Mignot, Martin Landray, Lionel Tarassenko, Robert A Harrington, Alan C Yeung, Euan A Ashley
Importance: Studies have established the importance of physical activity and fitness, yet limited data exist on the associations between objective, real-world physical activity patterns, fitness, sleep, and cardiovascular health. Objectives: To assess the feasibility of obtaining measures of physical activity, fitness, and sleep from smartphones and to gain insights into activity patterns associated with life satisfaction and self-reported disease. Design, Setting, and Participants: The MyHeart Counts smartphone app was made available in March 2015, and prospective participants downloaded the free app between March and October 2015...
January 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/27916176/functional-assessment-and-transplantation-of-the-donor-heart-after-circulatory-death
#6
Simon J Messer, Richard G Axell, Simon Colah, Paul A White, Marian Ryan, Aravinda A Page, Barbora Parizkova, Kamen Valchanov, Christopher W White, Darren H Freed, Euan Ashley, John Dunning, Martin Goddard, Jayan Parameshwar, Christopher J Watson, Thomas Krieg, Ayyaz Ali, Steven Tsui, Stephen R Large
BACKGROUND: After a severe shortage of brain-dead donors, the demand for heart transplantation has never been greater. In an attempt to increase organ supply, abdominal and lung transplant programs have turned to the donation after circulatory-determined death (DCD) donor. However, because heart function cannot be assessed after circulatory death, DCD heart transplantation was deemed high risk and never adopted routinely. We report a novel method of functional assessment of the DCD heart resulting in a successful clinical program...
December 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/27814364/deep-learning-automates-the-quantitative-analysis-of-individual-cells-in-live-cell-imaging-experiments
#7
David A Van Valen, Takamasa Kudo, Keara M Lane, Derek N Macklin, Nicolas T Quach, Mialy M DeFelice, Inbal Maayan, Yu Tanouchi, Euan A Ashley, Markus W Covert
Live-cell imaging has opened an exciting window into the role cellular heterogeneity plays in dynamic, living systems. A major critical challenge for this class of experiments is the problem of image segmentation, or determining which parts of a microscope image correspond to which individual cells. Current approaches require many hours of manual curation and depend on approaches that are difficult to share between labs. They are also unable to robustly segment the cytoplasms of mammalian cells. Here, we show that deep convolutional neural networks, a supervised machine learning method, can solve this challenge for multiple cell types across the domains of life...
November 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27681629/early-somatic-mosaicism-is-a-rare-cause-of-long-qt-syndrome
#8
James Rush Priest, Charles Gawad, Kristopher M Kahlig, Joseph K Yu, Thomas O'Hara, Patrick M Boyle, Sridharan Rajamani, Michael J Clark, Sarah T K Garcia, Scott Ceresnak, Jason Harris, Sean Boyle, Frederick E Dewey, Lindsey Malloy-Walton, Kyla Dunn, Megan Grove, Marco V Perez, Norma F Neff, Richard Chen, Katsuhide Maeda, Anne Dubin, Luiz Belardinelli, John West, Christian Antolik, Daniela Macaya, Thomas Quertermous, Natalia A Trayanova, Stephen R Quake, Euan A Ashley
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel NaV1.5 encoded by SCN5A, NM_000335:c.5284G > T predicting p.(V1762L), but read depth was insufficient to be diagnostic. Exome sequencing of the trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband...
October 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27582424/in-vivo-post-cardiac-arrest-myocardial-dysfunction-is-supported-by-ca2-calmodulin-dependent-protein-kinase-ii-mediated-calcium-long-term-potentiation-and-mitigated-by-alda-1-an-agonist-of-aldehyde-dehydrogenase-type-2
#9
Christopher E Woods, Ching Shang, Fouad Taghavi, Peter Downey, Adrian Zalewski, Gabriel R Rubio, Jing Liu, Julian R Homburger, Zachary Grunwald, Wei Qi, Christian Bollensdorff, Porama Thanaporn, Ayyaz Ali, R Kirk Riemer, Peter Kohl, Daria Mochly-Rosen, Edward Gerstenfeld, Stephen Large, Ziad A Ali, Euan A Ashley
BACKGROUND: Survival after sudden cardiac arrest is limited by postarrest myocardial dysfunction, but understanding of this phenomenon is constrained by a lack of data from a physiological model of disease. In this study, we established an in vivo model of cardiac arrest and resuscitation, characterized the biology of the associated myocardial dysfunction, and tested novel therapeutic strategies. METHODS: We developed rodent models of in vivo postarrest myocardial dysfunction using extracorporeal membrane oxygenation resuscitation followed by invasive hemodynamics measurement...
September 27, 2016: Circulation
https://www.readbyqxmd.com/read/27528417/towards-precision-medicine
#10
Euan A Ashley
There is great potential for genome sequencing to enhance patient care through improved diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential, genomics strategies that have been developed for genetic discovery - including DNA-sequencing technologies and analysis algorithms - need to be adapted to fit clinical needs. This will require the optimization of alignment algorithms, attention to quality-coverage metrics, tailored solutions for paralogous or low-complexity areas of the genome, and the adoption of consensus standards for variant calling and interpretation...
August 16, 2016: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/27373587/alterations-in-cardiac-mechanics-following-ultra-endurance-exercise-insights-from-left-and-right-ventricular-area-deformation-loops
#11
Rachel Lord, Keith George, John Somauroo, Mike Stembridge, Nikhil Jain, Martin D Hoffman, Rob Shave, Francois Haddad, Euan Ashley, Helen Jones, David Oxborough
BACKGROUND: The aim of this study was to use novel area-deformation (ε) loops to interrogate the interaction between the right ventricular (RV) and left ventricular (LV) mechanics following a 100-mile endurance run. METHODS: Fifteen participants (mean body mass, 70.1 ± 8.8 kg; mean age, 40 ± 8 years) were recruited for the study. Echocardiography was performed before the race, after the race, and 6 hours into recovery. RV and LV area and longitudinal ε were assessed using standard and speckle-tracking echocardiography...
September 2016: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/27324065/taming-the-genome-towards-better-genetic-test-interpretation
#12
Colleen Caleshu, Euan A Ashley
Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease-gene specific guidelines, and computational analyses using big data.
June 20, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27256036/interdisciplinary-psychosocial-care-for-families-with-inherited-cardiovascular-diseases
#13
REVIEW
Colleen Caleshu, Nadine A Kasparian, Katharine S Edwards, Laura Yeates, Christopher Semsarian, Marco Perez, Euan Ashley, Christian J Turner, Joshua W Knowles, Jodie Ingles
Inherited cardiovascular diseases pose unique and complex psychosocial challenges for families, including coming to terms with life-long cardiac disease, risk of sudden death, grief related to the sudden death of a loved one, activity restrictions, and inheritance risk to other family members. Psychosocial factors impact not only mental health but also physical health and cooperation with clinical recommendations. We describe an interdisciplinary approach to the care of families with inherited cardiovascular disease, in which psychological care provided by specialized cardiac genetic counselors, nurses, and psychologists is embedded within the cardiovascular care team...
October 2016: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27247418/multidimensional-structure-function-relationships-in-human-%C3%AE-cardiac-myosin-from-population-scale-genetic-variation
#14
Julian R Homburger, Eric M Green, Colleen Caleshu, Margaret S Sunitha, Rebecca E Taylor, Kathleen M Ruppel, Raghu Prasad Rao Metpally, Steven D Colan, Michelle Michels, Sharlene M Day, Iacopo Olivotto, Carlos D Bustamante, Frederick E Dewey, Carolyn Y Ho, James A Spudich, Euan A Ashley
Myosin motors are the fundamental force-generating elements of muscle contraction. Variation in the human β-cardiac myosin heavy chain gene (MYH7) can lead to hypertrophic cardiomyopathy (HCM), a heritable disease characterized by cardiac hypertrophy, heart failure, and sudden cardiac death. How specific myosin variants alter motor function or clinical expression of disease remains incompletely understood. Here, we combine structural models of myosin from multiple stages of its chemomechanical cycle, exome sequencing data from two population cohorts of 60,706 and 42,930 individuals, and genetic and phenotypic data from 2,913 patients with HCM to identify regions of disease enrichment within β-cardiac myosin...
14, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27099173/a-research-roadmap-for-next-generation-sequencing-informatics
#15
REVIEW
Russ B Altman, Snehit Prabhu, Arend Sidow, Justin M Zook, Rachel Goldfeder, David Litwack, Euan Ashley, George Asimenos, Carlos D Bustamante, Katherine Donigan, Kathleen M Giacomini, Elaine Johansen, Natalia Khuri, Eunice Lee, Xueying Sharon Liang, Marc Salit, Omar Serang, Zivana Tezak, Dennis P Wall, Elizabeth Mansfield, Taha Kass-Hout
Next-generation sequencing technologies are fueling a wave of new diagnostic tests. Progress on a key set of nine research challenge areas will help generate the knowledge required to advance effectively these diagnostics to the clinic.
April 20, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27058611/de-novo-and-rare-variants-at-multiple-loci-support-the-oligogenic-origins-of-atrioventricular-septal-heart-defects
#16
James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining analysis of 987 individuals (discovery cohort of 59 affected trios and 59 control trios, and a replication cohort of 100 affected singletons and 533 unaffected singletons) we observe variation at novel and known loci related to a specific cardiac malformation the atrioventricular septal defect (AVSD)...
April 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27027796/exploratory-insights-from-the-right-sided-electrocardiogram-following-prolonged-endurance-exercise
#17
Rachel Lord, Keith George, John Somauroo, Nikhil Jain, Kristin Reese, Martin D Hoffman, Francois Haddad, Euan Ashley, Helen Jones, David Oxborough
BACKGROUND: Prolonged strenuous exercise has a profound effect on cardiac function. The right heart may be more susceptible to this imposition; yet, right-sided chest leads have not been utilised in this setting. METHODS: Thirty highly trained athletes at the 2014 Western States 100-mile Endurance Run from Squaw Valley to Auburn, California (body mass 68 ± 12 kg, age 45 ± 10 years, 57 ± 15 miles per week) were recruited for the study. Pre- and post-race, a right-sided 12-lead ECG was obtained and data were extracted for P, R and S waves, J point, ST segment and T wave amplitude...
November 2016: European Journal of Sport Science
https://www.readbyqxmd.com/read/26966283/effect-of-lossy-compression-of-quality-scores-on-variant-calling
#18
Idoia Ochoa, Mikel Hernaez, Rachel Goldfeder, Tsachy Weissman, Euan Ashley
Recent advancements in sequencing technology have led to a drastic reduction in genome sequencing costs. This development has generated an unprecedented amount of data that must be stored, processed, and communicated. To facilitate this effort, compression of genomic files has been proposed. Specifically, lossy compression of quality scores is emerging as a natural candidate for reducing the growing costs of storage. A main goal of performing DNA sequencing in population studies and clinical settings is to identify genetic variation...
March 10, 2016: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/26932475/medical-implications-of-technical-accuracy-in-genome-sequencing
#19
Rachel L Goldfeder, James R Priest, Justin M Zook, Megan E Grove, Daryl Waggott, Matthew T Wheeler, Marc Salit, Euan A Ashley
BACKGROUND: As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently published a set of benchmark SNV, indel, and homozygous reference genotypes for the pilot whole genome NIST Reference Material based on the NA12878 genome. METHODS: We examine the relationship between human genome complexity and genes/variants reported to be associated with human disease...
March 2, 2016: Genome Medicine
https://www.readbyqxmd.com/read/26926154/impact-of-septal-reduction-on-left-atrial-size-and-diastole-in-hypertrophic-cardiomyopathy
#20
Gherardo Finocchiaro, Francois Haddad, Yukari Kobayashi, David Lee, Aleksandra Pavlovic, Ingela Schnittger, Gianfranco Sinagra, Emma Magavern, Jonathan Myers, Victor Froelicher, Joshua W Knowles, Euan Ashley
BACKGROUND AND AIMS: Both myectomy and alcohol septal ablation (ASA) can substantially reduce left ventricular (LV) outflow obstruction, relieve symptoms, and improve outcomes in hypertrophic cardiomyopathy (HCM). It is unclear whether septal reduction decreases left atrial (LA) size and improves diastolic function. The aim of this study was to analyze the consequences of septal reduction on LA size and diastolic function in a cohort of patients with HCM. METHODS: Forty patients (mean age: 50 ± 14, male sex 64%) with HCM who underwent septal reduction (myectomy or alcohol septal ablation) were studied...
May 2016: Echocardiography
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