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https://www.readbyqxmd.com/read/28802509/value-of-strain-imaging-and-maximal-oxygen-consumption-in-patients-with-hypertrophic-cardiomyopathy
#1
Kegan J Moneghetti, Davide Stolfo, Jeffrey W Christle, Yukari Kobayashi, Gherardo Finocchiaro, Gianfranco Sinagra, Jonathan Myers, Euan A Ashley, Francois Haddad, Matthew T Wheeler
Longitudinal strain (LS) has been shown to be predictive of outcome in hypertrophic cardiomyopathy (HC). Percent predicted peak oxygen uptake (ppVO2), among other cardiopulmonary exercise testing (CPX) metrics, is a strong predictor of prognosis in HC. However, there has been limited investigation into the combination of LS and CPX metrics. This study sought to determine how LS and parameters of exercise performance contribute to prognosis in HC. One hundred and thirty-one consecutive patients with HC who underwent CPX and stress echocardiography were included...
July 17, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28798026/navigating-genetic-and-phenotypic-uncertainty-in-left-ventricular-noncompaction
#2
EDITORIAL
June-Wha Rhee, Megan E Grove, Euan A Ashley
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28681553/contractile-reserve-and-cardiopulmonary-exercise-parameters-in-patients-with-dilated-cardiomyopathy-the-two-dimensions-of-exercise-testing
#3
Kegan J Moneghetti, Yukari Kobayashi, Jeffrey W Christle, Miyuki Ariyama, Bojan Vrtovec, Tatiana Kouznetsova, Andrew Wilson, Euan Ashley, Matthew T Wheeler, Johnathan Myers, Francois Haddad
BACKGROUND: Left ventricular (LV) contractile reserve assessed using imaging and cardiopulmonary exercise testing (CPX) has been shown to predict outcome in patients with dilated cardiomyopathy (DCM). Few clinical studies have, however, analyzed the relationship between them. METHODS: A cohort of 75 ambulatory patients with DCM underwent stress treadmill echocardiography with CPX. LV contractile reserve was calculated as absolute change (ΔLVEF=LVEFpeak -LVEFrest ) and percent change (%LVEF=[(LVEFpeak -LVEFrest )/LVEFpeak) ]×100) in LVEF, circumferential and longitudinal strain (LS)...
July 6, 2017: Echocardiography
https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#4
Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford, Euan A Ashley
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28538708/accuracy-in-wrist-worn-sensor-based-measurements-of-heart-rate-and-energy-expenditure-in-a-diverse-cohort
#5
Anna Shcherbina, C Mikael Mattsson, Daryl Waggott, Heidi Salisbury, Jeffrey W Christle, Trevor Hastie, Matthew T Wheeler, Euan A Ashley
The ability to measure physical activity through wrist-worn devices provides an opportunity for cardiovascular medicine. However, the accuracy of commercial devices is largely unknown. The aim of this work is to assess the accuracy of seven commercially available wrist-worn devices in estimating heart rate (HR) and energy expenditure (EE) and to propose a wearable sensor evaluation framework. We evaluated the Apple Watch, Basis Peak, Fitbit Surge, Microsoft Band, Mio Alpha 2, PulseOn, and Samsung Gear S2. Participants wore devices while being simultaneously assessed with continuous telemetry and indirect calorimetry while sitting, walking, running, and cycling...
May 24, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28411191/delivering-clinical-grade-sequencing-and-genetic-test-interpretation-for-cardiovascular-medicine
#6
Andrew R Harper, Victoria N Parikh, Rachel L Goldfeder, Colleen Caleshu, Euan A Ashley
No abstract text is available yet for this article.
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28382529/a-comparison-of-methods-for-determining-the-ventilatory-threshold-implications-for-surgical-risk-stratification
#7
Baruch Vainshelboim, Shravan Rao, Khin Chan, Ricardo M Lima, Euan A Ashley, Jonathan Myers
PURPOSE: The ventilatory threshold (VT) is an objective physiological marker of the capacity of aerobic endurance that has good prognostic applications in preoperative settings. Nevertheless, determining the VT can be challenging due to physiological and methodological issues, especially in evaluating surgical risk. The purpose of the current study was to compare different methods of determining VT and to highlight the implications for assessing perioperative risk. METHODS: Our study entailed analysis of 445 treadmill cardiopulmonary exercise tests from 140 presurgical candidates with an aortic abdominal aneurysm (≥3...
June 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28377168/a-reference-equation-for-normal-standards-for-vo2-max-analysis-from-the-fitness-registry-and-the-importance-of-exercise-national-database-friend-registry
#8
REVIEW
Jonathan Myers, Leonard A Kaminsky, Ricardo Lima, Jeffrey W Christle, Euan Ashley, Ross Arena
Existing normal standards for maximal oxygen uptake (VO2 max) are problematic because they tend to be population specific, lack normal distribution and portability, and are poorly represented by women. The objective of the current study was to apply the Fitness Registry and the Importance of Exercise: A National Data Base (FRIEND) Registry to improve upon previous regression formulas for normal standards for VO2 max using treadmill testing. Maximal treadmill tests were performed in 7783 healthy men and women (20-79years; maximal RER >1...
June 2017: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/28370331/left-atrial-function-and-phenotypes-in-asymmetric-hypertrophic-cardiomyopathy
#9
Yukari Kobayashi, Matthew Wheeler, Gherardo Finocchiaro, Miyuki Ariyama, Yuhei Kobayashi, Marco V Perez, David Liang, Tatiana Kuznetsova, Ingela Schnittger, Euan Ashley, Francois Haddad
BACKGROUND: Few studies have analyzed changes in left atrial (LA) function associated with different phenotypes of asymmetric hypertrophic cardiomyopathy (HCM). We sought to demonstrate the association of impairments in LA function with disease phenotype in patients with obstructive and nonobstructive HCM. METHODS: From Stanford Cardiomyopathy Registry, we randomly selected 50 age-/sex-matched healthy controls, 35 patients with nonobstructive HCM (HCM 1), 35 patients with obstructive HCM (HCM 2), and 35 patients with obstructive HCM requiring septal reduction therapy (HCM 3)...
April 1, 2017: Echocardiography
https://www.readbyqxmd.com/read/28328508/hapiso-an-accurate-method-for-the-haplotype-specific-isoforms-reconstruction-from-long-single-molecule-reads
#10
Serghei Mangul, Taegyun Harry Yang, Farhad Hormozdiari, Alexandra Marie Dainis, Elizabeth Tseng, Euan A Ashley, Alex Zelikovsky, Eleazar Eskin
Sequencing of RNA provides the possibility to study an individual's transcriptome landscape and determine allelic expression ratios. Single-molecule protocols generate multi-kilobase reads longer than most transcripts, allowing sequencing of complete haplotype isoforms. This allows partitioning the reads into two parental haplotypes. While the read length of the single-molecule protocols is long, the relatively high error rate limits the ability to accurately detect the genetic variants and assemble them into the haplotype-specific isoforms...
March 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28306757/effect-of-moderate-intensity-exercise-training-on-peak-oxygen-consumption-in-patients-with-hypertrophic-cardiomyopathy-a-randomized-clinical-trial
#11
RANDOMIZED CONTROLLED TRIAL
Sara Saberi, Matthew Wheeler, Jennifer Bragg-Gresham, Whitney Hornsby, Prachi P Agarwal, Anil Attili, Maryann Concannon, Annika M Dries, Yael Shmargad, Heidi Salisbury, Suwen Kumar, Jonathan J Herrera, Jonathan Myers, Adam S Helms, Euan A Ashley, Sharlene M Day
Importance: Formulating exercise recommendations for patients with hypertrophic cardiomyopathy is challenging because of concern about triggering ventricular arrhythmias and because a clinical benefit has not been previously established in this population. Objective: To determine whether moderate-intensity exercise training improves exercise capacity in adults with hypertrophic cardiomyopathy. Design, Setting, and Participants: A randomized clinical trial involving 136 patients with hypertrophic cardiomyopathy was conducted between April 2010 and October 2015 at 2 academic medical centers in the United States (University of Michigan Health System and Stanford University Medical Center)...
April 4, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28249147/informed-consent
#12
REVIEW
Christine Grady, Steven R Cummings, Michael C Rowbotham, Michael V McConnell, Euan A Ashley, Gagandeep Kang
This multipart review provides an overview of innovative approaches to improving and expanding the informed consent process for researchers and participants, along with short essays covering specific areas of innovation. The Changing Face of Informed Consent. Christine Grady, R.N. Ph.D. In the..
March 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28215031/orexin-a-missing-link-between-sleep-disorders-and-heart-failure
#13
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...
April 2017: Current Heart Failure Reports
https://www.readbyqxmd.com/read/28157539/the-undiagnosed-diseases-network-accelerating-discovery-about-health-and-disease
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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