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https://www.readbyqxmd.com/read/28214153/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation
#1
José Marçalo, Luiz Menezes Falcão
A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#2
Bárbara Cardoso, Inês Gomes, Petra Loureiro, Conceição Trigo, Fátima Ferreira Pinto
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#3
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207570/international-survey-of-critically-ill-children-with-acute-neurologic-insults-the-prevalence-of-acute-critical-neurological-disease-in-children-a-global-epidemiological-assessment-study
#4
Ericka L Fink, Patrick M Kochanek, Robert C Tasker, John Beca, Michael J Bell, Robert S B Clark, Jamie Hutchison, Monica S Vavilala, Anthony Fabio, Derek C Angus, R Scott Watson
OBJECTIVE: The international scope of critical neurologic insults in children is unknown. Our objective was to assess the prevalence and outcomes of children admitted to PICUs with acute neurologic insults. DESIGN: Prospective study. SETTING: Multicenter (n = 107 PICUs) and multinational (23 countries, 79% in North America and Europe). PATIENTS: Children 7 days to 17 years old admitted to the ICU with new traumatic brain injury, stroke, cardiac arrest, CNS infection or inflammation, status epilepticus, spinal cord injury, hydrocephalus, or brain mass...
February 15, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28204831/tachycardia-bradycardia-syndrome-electrophysiological-mechanisms-and-future-therapeutic-approaches-review
#5
Gary Tse, Tong Liu, Ka Hou Christien Li, Victoria Laxton, Andy On-Tik Wong, Yin Wah Fiona Chan, Wendy Keung, Camie W Y Chan, Ronald A Li
Sick sinus syndrome (SSS) encompasses a group of disorders whereby the heart is unable to perform its pacemaker function, due to genetic and acquired causes. Tachycardia‑bradycardia syndrome (TBS) is a complication of SSS characterized by alternating tachycardia and bradycardia. Techniques such as genetic screening and molecular diagnostics together with the use of pre-clinical models have elucidated the electrophysiological mechanisms of this condition. Dysfunction of ion channels responsible for initiation or conduction of cardiac action potentials may underlie both bradycardia and tachycardia; bradycardia can also increase the risk of tachycardia, and vice versa...
February 6, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28202772/high-throughput-screening-of-tyrosine-kinase-inhibitor-cardiotoxicity-with-human-induced-pluripotent-stem-cells
#6
Arun Sharma, Paul W Burridge, Wesley L McKeithan, Ricardo Serrano, Praveen Shukla, Nazish Sayed, Jared M Churko, Tomoya Kitani, Haodi Wu, Alexandra Holmström, Elena Matsa, Yuan Zhang, Anusha Kumar, Alice C Fan, Juan C Del Álamo, Sean M Wu, Javid J Moslehi, Mark Mercola, Joseph C Wu
Tyrosine kinase inhibitors (TKIs), despite their efficacy as anticancer therapeutics, are associated with cardiovascular side effects ranging from induced arrhythmias to heart failure. We used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs), generated from 11 healthy individuals and 2 patients receiving cancer treatment, to screen U.S. Food and Drug Administration-approved TKIs for cardiotoxicities by measuring alterations in cardiomyocyte viability, contractility, electrophysiology, calcium handling, and signaling...
February 15, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28198536/prevalence-of-risk-factors-and-asymptomatic-carotid-atherosclerosis-in-diabetic-patients-screened-for-silent-myocardial-ischemia-by-spect-myocardial-imaging
#7
Irena Peovska Mitevska, Natalija Baneva, Marijan Bosevski, Elizabeta Srbinovska Kostovska
BACKGROUND: The aim of the study was to evaluate whether there is any association between myocardial ischemia, common risk factors and carotid artery ultrasound parameters in asymptomatic type 2 diabetic (DMT2) patients. MATERIAL AND METHODS: 60 asymptomatic DMT2 patients (pts) without known coronary artery disease (CAD) underwent one day rest Dypiridamole stress Tc-99m sestamibi single photon emission computed tomography myocardial perfusion scintigraphy (MPS)...
2017: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/28198527/coexistence-of-bicuspid-aortic-valve-aberrant-right-subclavian-artery-and-common-origin-of-carotid-arteries
#8
Paweł Tyczyński, Ilona Michałowska, Aneta Fronczak, Rafał Wolny, Hubert Łazarczyk, Zbigniew Chmielak, Adam Witkowski
BACKGROUND: Prevalence of bicuspid aortic valve (BAV) and right aberrant subclavian artery (ASA) separately is relatively common in general population, and much higher in some disorders. Surprisingly, coexistence of both valve and vessel anomalies has only been reported in single cases. METHODS: From 2008 to 2016, in a single, high-volume tertiary cardiac center, patients who underwent chest computed tomography or magnetic resonance imaging for various reasons, were retrospectively screened for the presence of right ASA...
February 15, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28194680/parental-knowledge-of-cardiovascular-screening-and-prevention-of-sudden-cardiac-arrest-in-youth-athletes
#9
Madison A Wagener, Alex B Diamond, Ashley Rowatt Karpinos
Sudden cardiac arrest (SCA) is the leading cause of death in youth athletes. Survival from out- of-hospital SCA depends on prompt initiation of cardiopulmonary resuscitation (CPR) and use of an automated external defibrillator (AED). This study evaluated parental knowledge, experience, and attitudes related to cardiovascular screening, SCA, and CPR/AED use in youth athletes and made comparisons between parents who are employed in healthcare and parents who are not employed in healthcare. We conducted a cross-sectional survey to evaluate knowledge, experiences, and attitudes of 91 parents of youth athletes who attended a community-based cardiovascular screening event...
February 13, 2017: Journal of Community Health
https://www.readbyqxmd.com/read/28194232/post-challenge-insulin-concentration-is-useful-for-differentiating-between-coronary-artery-disease-and-cardiac-syndrome-x-in-subjects-without-known-diabetes-mellitus
#10
Kae-Woei Liang, Wayne H-H Sheu, Wen-Jane Lee, Wen-Lieng Lee, Hung-Chih Pan, I-Te Lee, Jun-Sing Wang
BACKGROUND: Cardiac syndrome X (CSX) is characterized by angina pectoris but with patent coronary arteries. Our previous study demonstrated that subjects with CSX had a higher fasting insulin-resistance (IR) than the controls. However, few studies have investigated the degree of IR, including oral glucose tolerance test (OGTT)-derived indices and profiles of metabolic abnormalities between CSX and coronary artery disease (CAD). METHODS: Ninety-two CSX and 145 CAD subjects without known diabetes mellitus (DM) underwent coronary angiogram (CAG) for angina pectoris and also agreed to receive OGTT and glycated hemoglobin (HbA1C) evaluations for screening abnormal glucose regulation and IR...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28193509/pilot-study-analyzing-automated-ecg-screening-of-hypertrophic-cardiomyopathy
#11
Matthew Campbell, Xuefu Zhou, Chia Han, Hedayat Abrishami, Gregory Webster, Christina Y Miyake, Christopher T Sower, Jeffery B Anderson, Timothy K Knilans, Richard J Czosek
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is one of the leading causes of sudden cardiac death in athletes. However, pre-participation ECG screening has often been criticized for failing to meet cost-effectiveness thresholds, in part because of high false-positive rates and the cost of ECG screening itself. OBJECTIVES: To assess the testing characteristics of an automated ECG algorithm designed to screen for HCM in a multi-institutional pediatric cohort. METHODS: ECGs from patients with HCM aged 12 - 20 years from 3 pediatric institutions were screened for ECG criteria for HCM using a previously described automated computer algorithm developed specifically for HCM ECG screening...
February 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#12
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28192391/cmos-nanoelectrode-array-for-all-electrical-intracellular-electrophysiological-imaging
#13
Jeffrey Abbott, Tianyang Ye, Ling Qin, Marsela Jorgolli, Rona S Gertner, Donhee Ham, Hongkun Park
Developing a new tool capable of high-precision electrophysiological recording of a large network of electrogenic cells has long been an outstanding challenge in neurobiology and cardiology. Here, we combine nanoscale intracellular electrodes with complementary metal-oxide-semiconductor (CMOS) integrated circuits to realize a high-fidelity all-electrical electrophysiological imager for parallel intracellular recording at the network level. Our CMOS nanoelectrode array has 1,024 recording/stimulation 'pixels' equipped with vertical nanoelectrodes, and can simultaneously record intracellular membrane potentials from hundreds of connected in vitro neonatal rat ventricular cardiomyocytes...
February 13, 2017: Nature Nanotechnology
https://www.readbyqxmd.com/read/28191759/heparin-promotes-cardiac-differentiation-of-human-pluripotent-stem-cells-in-chemically-defined-albumin-free-medium-enabling-consistent-manufacture-of-cardiomyocytes
#14
Yongshun Lin, Kaari L Linask, Barbara Mallon, Kory Johnson, Michael Klein, Jeanette Beers, Wen Xie, Yubin Du, Chengyu Liu, Yinzhi Lai, Jizhong Zou, Mark Haigney, Hushan Yang, Mahendra Rao, Guokai Chen
Cardiomyocytes can be differentiated from human pluripotent stem cells (hPSCs) in defined conditions, but efficient and consistent cardiomyocyte differentiation often requires expensive reagents such as B27 supplement or recombinant albumin. Using a chemically defined albumin-free (E8 basal) medium, we identified heparin as a novel factor that significantly promotes cardiomyocyte differentiation efficiency, and developed an efficient method to differentiate hPSCs into cardiomyocytes. The treatment with heparin helped cardiomyocyte differentiation consistently reach at least 80% purity (up to 95%) from more than 10 different hPSC lines in chemically defined Dulbecco's modified Eagle's medium/F-12-based medium on either Matrigel or defined matrices like vitronectin and Synthemax...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28191665/apical-left-ventricular-myocardial-dysfunction-is-an-early-feature-of-cardiac-involvement-in-myotonic-dystrophy-type-1
#15
Rodrigue Garcia, Quentin Labarre, Bruno Degand, Pierre Ingrand, François Le Gal, Benjamin Bonnet, Anne Delaubier, Claire Guillou, Barnabas Gellen, Damien Coisne, Claire Bouleti, Luc Christiaens
INTRODUCTION: Left ventricular (LV) dysfunction is a major prognostic determinant in myotonic dystrophy type 1 (DM1). Therefore, markers of early-stage LV impairment may be useful. The aim of this study was to evaluate 2D echocardiographic LV strain in a cohort of DM1 patients with preserved left ventricular ejection fraction (LVEF) and to compare the results with matched controls. METHODS: This prospective single-center study included 33 consecutive DM1 patients between February 2014 and February 2015...
February 13, 2017: Echocardiography
https://www.readbyqxmd.com/read/28190454/somatic-map2k1-mutations-are-associated-with-extracranial-arteriovenous-malformation
#16
Javier A Couto, August Y Huang, Dennis J Konczyk, Jeremy A Goss, Steven J Fishman, John B Mulliken, Matthew L Warman, Arin K Greene
Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue and, sometimes, cardiac overload. AVMs are difficult to control; they often re-expand after embolization or resection, and pharmacologic therapy is unavailable. We studied extracranial AVMs in order to identify their biological basis. We performed whole-exome sequencing (WES) and whole-genome sequencing (WGS) on AVM tissue from affected individuals...
January 30, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28188451/patients-with-cheyne-stokes-respiration-and-heart-failure-patient-tolerance-after-three-month-discontinuation-of-treatment-with-adaptive-servo-ventilation
#17
Arild Hetland, Tøri Vigeland Lerum, Kristina H Haugaa, Thor Edvardsen
The recent SERVE HF study concluded that patients with chronic heart failure (CHF) and Cheyne-Stokes respiration (CSR) have increased mortality when treated with adaptive servo-ventilation (ASV). We, therefore, wanted to explore if these patients tolerated discontinuation of ASV treatment. The study was a prospective post-ASV treatment observational design with a 3-month follow-up period. 14 patients from our outpatient clinic, all male, were originally diagnosed with CHF and Cheyne-Stokes respiration, which is a clinical form of central sleep apnea...
February 11, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28187374/the-strengths-and-weaknesses-of-non-invasive-parameters-obtained-by-echocardiography-and-cardiopulmonary-exercise-testing-in-comparison-with-the-hemodynamic-assessment-by-the-right-heart-catheterization-in-patients-with-pulmonary-hypertension
#18
Katarzyna Ptaszyńska-Kopczyńska, Anna Krentowska, Emilia Sawicka, Anna Skoneczny, Małgorzata Jasiewicz, Małgorzata Knapp, Włodzimierz J Musiał, Bożena Sobkowicz, Karol A Kamiński
PURPOSE: Pulmonary hypertension (PH) diagnosis requires invasive assessment by right heart catheterization (RHC), but screening and monitoring are performed using non-invasive methods: echocardiography and cardiopulmonary exercise testing (CPET). The aim of the study was to assess correlations between the parameters obtained in non-invasive testing and RHC in patients with PH of different etiologies. MATERIAL/METHODS: The study included 53 medical records of PH patients (32 women) aged 29-81 years...
June 14, 2016: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28186444/the-diagnostic-accuracy-of-myocardial-perfusion-scintigraphy-in-athletes-with-abnormal-exercise-test-results
#19
Danny Ajp van de Sande, Ing Han Liem, Jan Hoogsteen, Hareld Mc Kemps
Background Previous studies revealed a relatively high prevalence of electrocardiographic findings indicative for myocardial ischemia in asymptomatic athletes undergoing pre-participation screening. Myocardial perfusion scintigraphy is generally considered a valuable diagnostic and prognostic modality and often used for further diagnostic evaluation in these subjects. However, data on the diagnostic accuracy of myocardial perfusion scintigraphy in athletes are scarce. Objectives The main purpose of this study was to investigate the positive predictive value of myocardial perfusion scintigraphy for detection of coronary artery disease in asymptomatic athletes with abnormal exercise testing results during pre-participation screening...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28185354/eligibility-of-pacemaker-patients-for-subcutaneous-implantable-cardioverter-defibrillators
#20
James E Ip, Michael S Wu, Peter J Kennel, George Thomas, Christopher F Liu, Jim W Cheung, Steven M Markowitz, Bruce B Lerman
INTRODUCTION: The subcutaneous implantable cardioverter defibrillator (ICD) has emerged as a viable therapeutic option for patients who are deemed high risk for sudden cardiac death. Previous studies have shown that 7-15% of patients are not candidates for the S-ICD based on their intrinsic QRS/T-wave morphology. Presently, it is not known if the S-ICD can be considered as supplementary therapy in patients who are ventricularly paced. We sought to determine the proportion of ventricularly paced patients who would qualify for an S-ICD...
February 10, 2017: Journal of Cardiovascular Electrophysiology
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