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https://www.readbyqxmd.com/read/27922246/neonatal-lupus-erythematosus-report-of-a-case-with-cutaneous-hematological-and-hepatobiliary-findings
#1
Andaç Salman, Merve Hatun Sarıçam, Ayşe Deniz Yücelten, Cuyan Demirkesen, Tülin Ergun
Neonatal lupus erythematosus is an autoimmune disorder mainly affecting the heart and skin. It is the most common cause of congenital heart block. In addition, hematological, hepatobiliary and neurological involvement may occur. Herein, we report a 23-day-old infant presented with annular, erythematous, and scaly and atrophic lesions on the face and trunk. Based on the clinical, laboratory and histopathological findings, she was diagnosed as neonatal lupus erythematosus. Neonatal lupus eryhtematosus should be considered in infants presenting with annular skin lesions, and we present this case to highlight the value of high index of clinical suspicion in diagnosis...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#2
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920458/assessing-extensive-cardiac-echography-examination-for-detecting-foetal-congenital-heart-defects-during-early-and-late-gestation-a-systematic-review-and-meta-analysis
#3
https://www.readbyqxmd.com/read/27919715/perioperative-brain-natriuretic-peptide-in-pediatric-cardiac-surgery-patients-its-association-with-postoperative-outcomes
#4
Tomoyuki Kanazawa, Moritoki Egi, Yuichiro Toda, Kazuyoshi Shimizu, Kentaro Sugimoto, Tatsuo Iwasaki, Hiroshi Morimatsu
OBJECTIVES: The aim of this study was to investigate the relationship between perioperative brain natriuretic peptide levels and the incidence of postoperative serious adverse events (SAEs) in pediatric cardiac patients. DESIGN: A prospective observational study. SETTING: A single-institution university hospital. PARTICIPANTS: Children under 15 years old who underwent cardiac surgery that required cardiopulmonary bypass from December 21, 2012 to February 26, 2014...
September 13, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/27919592/biomarkers-of-myocardial-injury-in-congenital-heart-disease-more-questions-than-answers
#5
EDITORIAL
Chun-An Chen
No abstract text is available yet for this article.
November 3, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27919462/interventricular-septal-hematoma-associated-with-congenital-heart-surgery-a-case-report-and-literature-review
#6
Fumiya Yoneyama, Muneaki Matsubara, Hiroaki Sakamoto, Yuji Hiramatsu
No abstract text is available yet for this article.
November 8, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27914791/aberrant-developmental-titin-splicing-and-dysregulated-sarcomere-length-in-thymosin-%C3%AE-4-knockout-mice
#7
Nicola Smart, Johannes Riegler, Cameron W Turtle, Craig A Lygate, Debra J McAndrew, Katja Gehmlich, Karina N Dubé, Anthony N Price, Vivek Muthurangu, Andrew M Taylor, Mark F Lythgoe, Charles Redwood, Paul R Riley
Sarcomere assembly is a highly orchestrated and dynamic process which adapts, during perinatal development, to accommodate growth of the heart. Sarcomeric components, including titin, undergo an isoform transition to adjust ventricular filling. Many sarcomeric genes have been implicated in congenital cardiomyopathies, such that understanding developmental sarcomere transitions will inform the aetiology and treatment. We sought to determine whether Thymosin β4 (Tβ4), a peptide that regulates the availability of actin monomers for polymerization in non-muscle cells, plays a role in sarcomere assembly during cardiac morphogenesis and influences adult cardiac function...
November 30, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27914635/noninvasive-screening-for-pulmonary-hypertension-by-exercise-testing-in-congenital-heart-disease
#8
Jan Müller, Pinar Bambul Heck, Peter Ewert, Alfred Hager
BACKGROUND: Patients with congenital heart disease and native or palliated conditions are at risk to develop pulmonary hypertension (PH) in later life. Screening for PH is currently performed by regular echocardiographic follow-up, which appears to be difficult in several congenital conditions. This study evaluated the screening for PH in congenital heart disease by cardiopulmonary exercise testing (CPET). METHODS: We analyzed our database including all patients with congenital heart disease referred for CPET in our institution from June 2001 to September 2013 and identified 683 patients who had an accompanied heart catheterization less than 6 month after CPET...
November 30, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27913834/key-role-of-pacing-site-as-determinant-factor-of-exercise-testing-performance-in-pediatric-patients-with-chronic-ventricular-pacing
#9
Michel Cabrera Ortega, Hiram Tápanes Duamy, Dunia B Benítez Ramos
Chronic right ventricular (RV) apical pacing has been associated with deterioration of functional capacity and chronotropic incompetence during exercise testing in children. The effects of alternative pacing site on exercise performance in pediatric population remain unknown. We evaluated the influence of ventricular pacing site on exercise capacity in pediatric patients with complete congenital atrioventricular block requiring permanent pacemaker therapy. Sixty-four children paced from RV apex (n = 26), RV midseptum (n = 15) and left ventricular (LV) apex (n = 23) were studied cross-sectionally...
December 2, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27913770/cor-triatriatum-a-review
#10
REVIEW
Ajay Kumar Jha, Neeti Makhija
Cor triatriatum is a rare congenital cardiac anomaly defined by an abnormal septation within the atrium (left or right) leading to inflow obstruction to the respective ventricles. It exists either in isolated classical form or may be associated with simple to complex congenital cardiac anomalies. Several anatomical variants exist even in the classical form, and therefore, it may require multimodal diagnostic modalities to characterize and differentiate for better percutaneous interventional or surgical planning...
December 2, 2016: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/27913766/myocardial-cytochrome-oxidase-activity-increases-with-age-and-hypoxemia-in-patients-with-congenital-heart-disease
#11
Michael Onwugbufor, Richard J Levy, David Zurakowski, Richard A Jonas, Pranava Sinha
BACKGROUND: Myocardial tolerance to ischemia is influenced by age and preoperative cyanosis through unknown mechanisms and significantly affects postoperative outcomes. Cytochrome c oxidase (CcOx), the terminal enzyme of the mitochondrial electron transport chain, may play a role in the susceptibility to ischemic-reperfusion (IR) injury. Our study aimed at investigating changes in human myocardial CcOx activity based on age and preoperative oxygen saturation to understand its role in transition from neonatal to mature myocardium and hypoxic conditions...
December 1, 2016: Perfusion
https://www.readbyqxmd.com/read/27913750/congenital-heart-block-and-immune-mediated-sensorineural-hearing-loss-possible-cross-reactivity-of-immune-response
#12
C Bason, I Pagnini, A Brucato, S Maestroni, A Puccetti, C Lunardi, R Cimaz
Immune-mediated sensorineural hearing loss may complicate systemic autoimmune diseases. We have previously reported the presence of antibodies directed against inner ear antigens in patients with Cogan syndrome, a disease characterized by sudden hearing loss and interstitial keratitis. Such autoantibodies cross-react with an epitope of SSA/Ro60 protein. Anti-Ro/SSA antibodies in pregnant women cross the placenta and reach the fetal tissues inducing an immune-mediated damage of the cardiac conduction system...
December 2, 2016: Lupus
https://www.readbyqxmd.com/read/27912926/acute-management-of-refractory-and-unstable-pediatric-supraventricular-tachycardia
#13
Jonathan Lewis, Gaurav Arora, Dana L Tudorascu, Robert W Hickey, Richard A Saladino, Mioara D Manole
OBJECTIVE: To characterize the management of acute pediatric supraventricular tachycardia (SVT), placing special emphasis on infants, patients refractory to adenosine (refractory SVT), and patients with hypotension, poor perfusion, or altered mental status (unstable SVT). STUDY DESIGN: Retrospective cohort study of patients 0-18 years of age without congenital heart disease who presented to our pediatric hospital from January 2003 to December 2012 for the treatment of acute SVT...
November 22, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27912209/databases-for-congenital-heart-defect-public-health-studies-across-the-lifespan
#14
REVIEW
Tiffany J Riehle-Colarusso, Lisa Bergersen, Craig S Broberg, Cynthia H Cassell, Darryl T Gray, Scott D Grosse, Jeffrey P Jacobs, Marshall L Jacobs, Russell S Kirby, Lazaros Kochilas, Asha Krishnaswamy, Arianne Marelli, Sara K Pasquali, Thalia Wood, Matthew E Oster
No abstract text is available yet for this article.
October 26, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27912205/the-prevalence-of-sexual-dysfunction-and-its-association-with-quality-of-life-in-adults-with-congenital-heart-disease
#15
Alexandra Neiman, Salil Ginde, Michael G Earing, Peter J Bartz, Scott Cohen
BACKGROUND: The prevalence of sexual dysfunction (SD) and its impact on quality of life (QOL) in adults with congenital heart disease (CHD) is not well known. The aims of this study were to: determine the prevalence of SD, evaluate the risk factors associated with SD, and determine the association between SD and QOL in adults with CHD. METHODS: This was a cross-sectional study of adults (≥18years) with CHD presenting for routine follow-up at our institution. Subjects completed the CDC HRQOL-14 "Health Days Measure" to assess mental and physical health, and either the Sexual Health Inventory for Men or the Female Sexual Function Index to assess sexual function...
November 19, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#16
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27909690/intellectual-functioning-in-children-with-congenital-heart-defects-treated-with-surgery-or-by-catheter-interventions
#17
Carmen Ryberg, Jan Sunnegårdh, Maria Thorson, Malin Broberg
BACKGROUND: Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the heart defect, the child's age, and the socioeconomic status of the family (SES). METHODS: Two hundred twenty-eight children treated with surgery or by catheter technique were tested using the Wechsler intelligence scales to determine full scale IQ (FSIQ)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27909479/atrial-fibrillation-ablation-in-adults-with-repaired-congenital-heart-disease
#18
REVIEW
Marta Acena Md, Ignasi Anguera Md PhD, Paolo D Dallaglio Md, Marcos Rodriguez Md, Xavier Sabaté Md PhD
The incidence of atrial fibrillation (AF) in congenital heart disease (CHD) adults has increased in the past decades due to a longer life expectancy of this population where the subjects are exposed to cardiac overflow, overpressure and structural changes for years. The literature regarding AF ablation in repaired CHD adults emphasizes the importance of intracardiac echocardiography (ICE) to perform the transseptal puncture and the ablation procedure in the left atrium (LA), both effectively and safely. In small case control studies, where the predominant congenital cardiomyopathy was the atrial septal defect, the most common strategy for ablation was antral isolation of the pulmonary veins showing results, at one year follow-up, similar to those in the general population...
February 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27908445/erratum-for-lesion-specific-factors-contributing-to-in-hospital-costs-in-adults-with-congenital-heart-disease-am-j-cardiol-2016-117-1821-1825
#19
(no author information available yet)
No abstract text is available yet for this article.
November 28, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27907889/denovo-db-a-compendium-of-human-de-novo-variants
#20
Tychele N Turner, Qian Yi, Niklas Krumm, John Huddleston, Kendra Hoekzema, Holly A F Stessman, Anna-Lisa Doebley, Raphael A Bernier, Deborah A Nickerson, Evan E Eichler
Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery through next-generation sequencing focused on congenital heart disease and neurodevelopmental disorders (NDDs). Currently, de novo variants are one of the most significant risk factors for NDDs with a substantial overlap of genes involved in more than one NDD. To facilitate better usage of published data, provide standardization of annotation, and improve accessibility, we created denovo-db (http://denovo-db...
October 5, 2016: Nucleic Acids Research
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