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https://www.readbyqxmd.com/read/28986452/care-in-specialized-centers-and-data-sharing-increase-agreement-in-hypertrophic-cardiomyopathy-genetic-test-interpretation
#1
Aisha Furqan, Patricia Arscott, Francesca Girolami, Allison L Cirino, Michelle Michels, Sharlene M Day, Iacopo Olivotto, Carolyn Y Ho, Euan Ashley, Eric M Green, Colleen Caleshu
BACKGROUND: Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed. METHODS AND RESULTS: We examined the frequency, causes, and resolution of discordant variant classifications in the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a consortium of international centers with expertise in the clinical management and genetic architecture of hypertrophic cardiomyopathy...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28977353/incremental-value-of-right-heart-metrics-and-exercise-performance-to-well-validated-risk-scores-in-dilated-cardiomyopathy
#2
Kegan J Moneghetti, Genevieve Giraldeau, Matthew T Wheeler, Yukari Kobayashi, Bojan Vrtovec, David Boulate, Tatiana Kuznetsova, Ingela Schnittger, Joseph C Wu, Jonathan Myers, Euan Ashley, Francois Haddad
Aims: Risk stratification in heart failure (HF) relies on several established clinical risk scores, however, myocardial deformation, right heart metrics, and exercise performance have not usually been considered. This study sought to assess the incremental value of advanced echocardiographic and cardiopulmonary exercise testing (CPX) parameters to validated risk scores in HF. Methods and results: The Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC) and Metabolic Exercise Test Data Combined with Cardiac and Kidney Indexes (MECKI) scores were applied to 208 ambulatory patients with dilated cardiomyopathy (DCM) who completed echocardiography in conjunction with CPX as part of the Stanford Exercise Testing registry...
July 21, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28935153/load-dependent-effects-of-apelin-on-murine-cardiomyocytes
#3
Remi Peyronnet, Christian Bollensdorff, Rebecca A Capel, Eva A Rog-Zielinska, Christopher E Woods, David N Charo, Oleg Lookin, Giovanni Fajardo, Michael Ho, Thomas Quertermous, Euan A Ashley, Peter Kohl
The apelin peptide is described as one of the most potent inotropic agents, produced endogenously in a wide range of cells, including cardiomyocytes. Despite positive effects on cardiac contractility in multicellular preparations, as well as indications of cardio-protective actions in several diseases, its effects and mechanisms of action at the cellular level are incompletely understood. Here, we report apelin effects on dynamic mechanical characteristics of single ventricular cardiomyocytes, isolated from mouse models (control, apelin-deficient [Apelin-KO], apelin-receptor KO mouse [APJ-KO]), and rat...
September 18, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28918895/a-method-for-determining-exercise-oscillatory-ventilation-in-heart-failure-prognostic-value-and-practical-implications
#4
Baruch Vainshelboim, Aisha Amin, Jeffrey W Christle, Shreyas Hebbal, Euan A Ashley, Jonathan Myers
BACKGROUND: Exercise oscillatory ventilation (EOV) has been shown to be a powerful prognostic marker in chronic heart failure (CHF). However, EOV is poorly defined, its measurement lacks standardization and it is underutilized in clinical practice. The purpose of this pilot study was to investigate the prognostic value of a modified definition of EOV in patients with CHF. METHODS: Eighty-nine CHF patients (56.5±8.4years) (64% NYHA class III-IV) underwent cardiopulmonary exercise testing...
September 14, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28856136/impact-of-a-genetic-risk-score-for-coronary-artery-disease-on-reducing-cardiovascular-risk-a-pilot-randomized-controlled-study
#5
Joshua W Knowles, Shirin Zarafshar, Aleksandra Pavlovic, Benjamin A Goldstein, Sandra Tsai, Jin Li, Michael V McConnell, Devin Absher, Euan A Ashley, Michaela Kiernan, John P A Ioannidis, Themistocles L Assimes
PURPOSE: We tested whether providing a genetic risk score (GRS) for coronary artery disease (CAD) would serve as a motivator to improve adherence to risk-reducing strategies. METHODS: We randomized 94 participants with at least moderate risk of CAD to receive standard-of-care with (N = 49) or without (N = 45) their GRS at a subsequent 3-month follow-up visit. Our primary outcome was change in low density lipoprotein cholesterol (LDL-C) between the 3- and 6-month follow-up visits (ΔLDL-C)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28802509/value-of-strain-imaging-and-maximal-oxygen-consumption-in-patients-with-hypertrophic-cardiomyopathy
#6
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...
October 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28798026/navigating-genetic-and-phenotypic-uncertainty-in-left-ventricular-noncompaction
#7
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
#8
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)...
August 2017: Echocardiography
https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Victoria N Parikh, Euan A Ashley
No abstract text is available yet for this article.
January 31, 2017: Circulation
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