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https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#1
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29341014/cardiac-mri-in-small-animals
#2
Min-Chi Ku, Till Huelnhagen, Thoralf Niendorf, Andreas Pohlmann
Cardiac magnetic resonance (MR) imaging of mice is a valuable tool for the precise in vivo diagnosis and prognosis of heart defects. This detailed protocol describes the method of cardiac MR imaging in mice step by step. A series of MR images captures the contractile function of the mouse heart and post-processing of the image data yields morphometric parameters (myocardial mass, myocardial wall thickness, ventricular end-systolic and end-diastolic volume) as well as functional parameters (stroke volume and ejection fraction)...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29334829/rare-combination-of-pathologies-causing-mitral-stenosis-and-mitral-regurgitation-a-case-report
#3
Anupama K Nair, Kuntal Roy Chowdhuri, Sitaraman Radhakrishnan, Krishna S Iyer, Manish Saxena
A supramitral ring is a rare cause of mitral stenosis, while an isolated mitral valve cleft is a rare cause of congenital mitral regurgitation. Fortunately, both the lesions are known to have good outcomes after surgical correction. Although each is known to be associated with a variety of other structural heart defects, their coexistence has not been reported previously. We report a case of a three- and half-year-old boy detected to have a rare combination of supramitral ring producing severe mitral stenosis with a coexisting cleft in the anterior leaflet of mitral valve causing severe mitral regurgitation...
January 1, 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#4
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#5
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#6
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29324733/antibiotics-dispensed-to-privately-insured-pregnant-women-with-urinary-tract-infections-united-states-2014
#7
Elizabeth C Ailes, April D Summers, Emmy L Tran, Suzanne M Gilboa, Kathryn E Arnold, Dana Meaney-Delman, Jennita Reefhuis
Urinary tract infections (UTIs) occur in about 8% of pregnant women, and untreated UTIs can have serious consequences, including pyelonephritis, preterm labor, low birth weight, and sepsis (1). Pregnant women are typically screened for UTIs during early pregnancy, and those with bacteriuria are treated with antibiotics (1,2). Antibiotic stewardship is critical to improving patient safety and to combating antibiotic resistance. Because of the potential risk for birth defects, including anencephaly, heart defects, and orofacial clefts, associated with use of sulfonamides and nitrofurantoin during pregnancy (3), a 2011 committee opinion from the American College of Obstetricians and Gynecologists (ACOG) recommended that sulfonamides and nitrofurantoin may be prescribed in the first trimester of pregnancy only when other antimicrobial therapies are deemed clinically inappropriate (4)...
January 12, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29319170/sirt6-deacetylase-transcriptionally-regulates-glucose-metabolism-in-heart
#8
Danish Khan, Mohsen Sarikhani, Subhajit Dasgupta, Babukrishna Maniyadath, Anwit Shriniwas Pandit, Sneha Mishra, Faiz Ahamed, Abhinav Dubey, Nowrin Fathma, Hanudatta S Atreya, Ullas Kolthur-Seetharam, Nagalingam R Sundaresan
Sirtuins are a family of enzymes, which govern a number of cellular processes essential for maintaining physiological balance. SIRT6, a nuclear localized sirtuin, is implicated in the development of metabolic disorders. The role of SIRT6 in regulation of cardiac metabolism is unexplored. Although glucose is not the primary energy source of heart, defects in glucose oxidation have been linked to heart failure. SIRT6+/- mice hearts exhibit increased inhibitory phosphorylation of PDH subunit E1α. SIRT6 deficiency enhances FoxO1 nuclear localization that results in increased expression of PDK4...
January 10, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29311329/dysregulation-of-cotranscriptional-alternative-splicing-underlies-charge-syndrome
#9
Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, Guillaume Bernas, Philippe M Campeau, Seema R Lalani, Donna M Martin, Stephanie Bielas, Amanda Moccia, Anshika Srivastava, David W Silversides, Nicolas Pilon
CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in CHD7 (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for CHD7 mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29310557/a-medium-term-venous-access-alternative-for-infants-undergoing-congenital-heart-surgery
#10
Muhammad Aanish Raees, Paul V Dubar, David P Bichell
We describe a strategy aimed at maximizing the safety and minimizing the thrombogenicity of central venous lines for neonates with congenital heart defects. Our method involves the use of a tunneled technique to place a 4.2 Fr single-lumen (Broviac) catheter in the subpericardial space, with minimal intravascular course and a tip placed in the lower right atrium. Using this technique, we potentially eliminated the requirement for percutaneous placement of central venous lines postoperatively as well as potentially decreased the risk of intrapericardial bleeding associated with transthoracic lines...
January 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29306563/yield-rate-of-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-defects
#11
Sifa Turan, Mehmet Resit Asoglu, Rinat Gabbay Benziv, Lauren Doyle, Christopher Harman, Ozhan M Turan
OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified...
December 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29306027/trichloroethylene-perturbs-hnf4a-expression-and-activity-in-the-developing-chick-heart
#12
Alondra P Harris, Kareem A Ismail, Martha Nunez, Ira Martopullo, Alejandro Lencinas, Ornella I Selmin, Raymond B Runyan
Exposure to trichloroethylene (TCE) is linked to formation of congenital heart defects in humans and animals. Prior interactome analysis identified the transcription factor, Hepatocyte Nuclear Factor 4 alpha (HNF4a), as a potential target of TCE exposure. As a role for HNF4a is unknown in the heart, we examined developing avian hearts for HNF4a expression and for sensitivity to TCE and the HNF4a agonist, Benfluorex. In vitro analysis using a HNF4a reporter construct showed both TCE and HFN4a to be antagonists of HNF4a-mediated transcription at the concentrations tested...
January 3, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29305187/cardiac-arrest-and-ventricular-arrhythmia-in-adults-with-ebstein-anomaly-and-left-ventricular-non-compaction
#13
Magdalena Kumor, Magdalena Lipczyńska, Elzbieta Katarzyna Biernacka, Anna Klisiewicz, Anna Wójcik, Marek Konka, Katarzyna Kożuch, Piotr Szymański, Piotr Hoffman
BACKGROUND: Ebstein anomaly is a complex, congenital heart defect that is associated with a variety of cardiac abnormalities. Studies found a similar sarcomere gene mutation in patients with Ebstein anomaly (EA) and patients with isolated left ventricular non-compaction (LVNC). AIM: We aimed to show the prevalence of LVNC and its potential relationship with severe cardiac events (VT - ventricular tachycardia, cardiac arrest) in adult patients with EA. METHODS: We conducted a retrospective search of our institutional database from 2010 to 2014 for patients with EA and reviewed patients' medical records (age, sex, clinical presentation, electrocardiographic, echocardiographic, and CMR - cardiac magnetic resonance features)...
January 2, 2018: Journal of Cardiology
https://www.readbyqxmd.com/read/29302948/the-hancock%C3%A2-valved-conduit-for-right-ventricular-outflow-tract-reconstruction-in-sheep-for-assessing-new-devices
#14
John P Carney, Lindsey M Zhang, Jeffrey J Larson, Matthew T Lahti, Nicholas A Robinson, Agustin P Dalmasso, Richard W Bianco
BACKGROUND: Xenograft conduits have been used successfully to repair congenital heart defects, but are prone to failure over time. Hence, in order to improve patient outcomes, better xenografts are being developed. When evaluating a conduit's performance and safety it must first be compared against a clinically available control in a large animal model. The study aim was to evaluate a clinically available xenograft conduit used in right ventricular outflow tract (RVOT) reconstruction in a sheep model...
July 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29302749/simultaneous-repair-of-congenital-heart-defects-and-pectus-excavatum-in-young-children
#15
Junke Wang, Quan Wang, Zhengxia Pan
PURPOSE: The present study was undertaken to summarize our experience with the concurrent repair of pectus excavatum (PE) and congenital heart defects in young children over the past 15 years. METHODS: A retrospective study was conducted that included patients who underwent combined repair of PE and a congenital heart defect in a large clinical center between 2002 and 2017. Intraoperative and postoperative patient characteristics, postoperative complications and surgical outcomes were recorded...
January 5, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29301846/epithelial-properties-of-the-second-heart-field
#16
REVIEW
Claudio Cortes, Alexandre Francou, Christopher De Bono, Robert G Kelly
The vertebrate heart tube forms from epithelial progenitor cells in the early embryo and subsequently elongates by progressive addition of second heart field (SHF) progenitor cells from adjacent splanchnic mesoderm. Failure to maximally elongate the heart results in a spectrum of morphological defects affecting the cardiac poles, including outflow tract alignment and atrioventricular septal defects, among the most common congenital birth anomalies. SHF cells constitute an atypical apicobasally polarized epithelium with dynamic basal filopodia, located in the dorsal wall of the pericardial cavity...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29288186/long-term-early-development-research-in-congenital-heart-disease-leader-chd-a-study-protocol-for-a-prospective-cohort-observational-study-investigating-the-development-of-children-after-surgical-correction-for-congenital-heart-defects-during-the-first-3-years
#17
Hannah Ferentzi, Constanze Pfitzer, Lisa-Maria Rosenthal, Felix Berger, Katharina R L Schmitt
INTRODUCTION: Congenital heart disease (CHD) is the most common birth defect. Studies on the development of children with CHD point towards deficits in motoric, cognitive and language development. However, most studies are cross-sectional and there is a gap in the knowledge concerning developmental trajectories, risk and protective factors and a lack of research concerning environmental predictors. Specifically, no studies have so far considered the importance of early caregiving experiences and child temperament for the development of children with CHD...
December 28, 2017: BMJ Open
https://www.readbyqxmd.com/read/29287191/a-compromised-maternal-vitamin-d-status-is-associated-with-congenital-heart-defects-in-offspring
#18
M P H Koster, L van Duijn, Y H M Krul-Poel, J S Laven, W A Helbing, S Simsek, R P M Steegers-Theunissen
BACKGROUND: Interactions between genetic and environmental factors, including modifiable maternal nutrition and lifestyle, play a significant role in the pathogenesis of most congenital heart defects (CHD). The aim of this study was to investigate associations between periconceptional maternal vitamin D status and the prevalence of CHD in offspring. METHODS: A case-control study was performed in 345 mothers of a child with CHD and 432 mothers of a child without CHD from four tertiary hospitals in the Netherlands between 2003 and 2005...
December 26, 2017: Early Human Development
https://www.readbyqxmd.com/read/29287138/4d-fetal-echocardiography-an-update
#19
Greggory R DeVore, Gary Satou, Mark Sklansky
With the introduction of the electronic 4-dimensional and spatial-temporal image Correlation (e-STIC), it is now possible to obtain large volume datasets of the fetal heart that are virtually free of artifact. This allows the examiner to use a number of imaging modalities when recording the volumes that include two-dimensional real time, power and color Doppler, and B-flow images. Once the volumes are obtained, manipulation of the volume dataset allows the examiner to recreate views of the fetal heart that enable examination of cardiac anatomy...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287136/cerebrovascular-hemodynamics-in-fetuses-with-congenital-heart-disease
#20
Tingting Man, Yihua He, Ying Zhao, Lin Sun, Xiaowei Liu, Shuping Ge
BACKGROUND AND OBJECTIVE: It is hypothesized that diminished cerebral vascular resistance or the "brain sparing effect" is associated with fetuses with complex congenital heart defects (CHD) and may affect their neurodevelopmental outcome. An alternative explanation is that it is related to the location, cardiac output, pressure, and resistance in left heart obstructive CHDs. We sought to determine the effects of various left and right heart obstructive defects on the cerebral and placental hemodynamics and to evaluate the utility of these variables for the assessment and prognosis of CHDs...
December 2017: Echocardiography
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