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https://www.readbyqxmd.com/read/28735438/adenosine-assisted-neurovascular-surgery-initial-case-series-and-review-of-literature
#1
REVIEW
Alaa Al-Mousa, Gahan Bose, Katharine Hunt, Ahmed K Toma
Cerebral aneurysms in complex anatomical locations and intraoperative rupture of aneurysms are challenging for neurosurgeons and anaesthetists alike. Mechanical and non-mechanical methods to reduce blood flow into aneurysms are well-recognised techniques to facilitate aneurysm exclusion from the circulation. Mechanical methods like temporary clipping of parent arteries, carotid artery ligation and endovascular balloon occlusion are commonly used in clinical practice. However, non-mechanical techniques such as rapid ventricular pacing and adenosine-induced cardiac standstill with hypotension are still emerging strategies...
July 22, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#2
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28728073/sudden-perinatal-death-due-to-rupture-of-congenital-cardiac-diverticulum-pathological-findings-and-medico-legal-investigations-in-malpractice-charge
#3
Matteo Marchesi, Michele Boracchi, Guendalina Gentile, Francesca Maghin, Riccardo Zoja
Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination...
July 12, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#4
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28722335/protective-effects-of-folic-acid-on-pm2-5-induced-cardiac-developmental-toxicity-in-zebrafish-embryos-by-targeting-ahr-and-wnt-%C3%AE-catenin-signal-pathways
#5
Cong Yue, Cheng Ji, Hang Zhang, Leshuai W Zhang, Jian Tong, Yan Jiang, Tao Chen
Our previous observations indicated that extractable organic matter (EOM) from PM2.5 induced malformations in the heart of zebrafish embryos by activating AhR and inhibiting canonical Wnt/β-catenin signal pathway. As a nutritional factor, folic acid (FA) is reported to prevent cardiac defects during embryo development. Hence, we hypothesize that FA may prevent PM2.5-induced heart defects by interfering with AhR and Wnt/β-catenin signaling pathways. Our results showed that FA supplementation alleviated the EOM-induced heart defects in zebrafish embryos, and both AhR inhibitor CH223191 and Wnt activator CHIR99021 enhanced the protective efficiency of FA...
July 19, 2017: Environmental Toxicology
https://www.readbyqxmd.com/read/28722171/use-of-antibiotics-during-pregnancy-and-the-risk-of-major-congenital-malformations-a-population-based-cohort-study
#6
Flory T Muanda, Odile Sheehy, Anick Bérard
INTRODUCTION: Few studies have investigated the link between individual antibiotics and major congenital malformations (MCMs) including specific malformations owing to small sample size. We aimed to quantify the association between exposure to gestational antibiotic and the risk of MCMs. METHODS: Using the Quebec pregnancy cohort (1998 -2008), we included a total of 139,938 liveborn singleton alive whose mothers were covered by the «Régie de l'assurance maladie du Québec" drug plan for at least 12 months before and during pregnancy...
July 19, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28714608/selective-serotonin-reuptake-inhibitors-during-pregnancy-do-we-have-now-more-definite-answers-related-to-prenatal-exposure
#7
REVIEW
Asher Ornoy, Gideon Koren
Despite extensive studies, there still seems to be uncertainty as to the possible reproductive risk of selective serotonin reuptake inhibitors (SSRIs) and selective serotonin norepinephrine reuptake inhibitors (SNRIs) in pregnancy. We, therefore, assess the current data on the risk/benefit of SSRI use in pregnancy. As the neurodevelopmental effects of SSRIs are discussed in another paper in this issue, we will not address the possible neurodevelopmental effects. Special emphasis is given to the newer, large population-based studies...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28713813/incidental-finding-of-an-aorto-right-atrial-fistula-in-a-patient-undergoing-repair-of-a-sinus-of-valsalva-aneurysm
#8
Byron R Rosero-Britton, Anthony Nguyen, Ibrahim Warsame, Muhammad Shabsigh, Luke Dong, James Wolfe, Bryan Whitson, Michael Essandoh
A sinus of Valsalva aneurysm is a rare malformation of the aortic root that can fistulize to another cardiac structure such as the right atrium. Although transthoracic echocardiography and computed tomography angiography have demonstrated utility for the diagnosis of a sinus of Valsalva-to-right atrial fistula, there are few cases where a misdiagnosis may occur. Intraoperative transesophageal echocardiography may be an essential imaging tool for the diagnosis and management of incidental findings such as a sinus of Valsalva-to-right atrial fistula during cardiac surgery and should be used routinely...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28709918/unroofed-coronary-sinus-syndrome-an-easily-corrected-congenital-anomaly-but-more-diagnostic-suspicions-are-needed
#9
Changcheng Chen, Lili Xu, Yi Xu, Ping Li, Shuo Liu, Bin You
BACKGROUND: Unroofed coronary sinus syndrome (URCSS) is a spectrum of cardiac anomalies in which part (partial type) or the entire common wall (complete type) between the coronary sinus (CS) and left atrium is absent. It is commonly associated with a persistent left superior vena cava (PLSVC). The PLSVC can even anomalously connect to the left atrium in complete type anomaly. URCSS has been reported to be associated with delayed diagnosis and life-threatening cerebral injury. The purpose of the present study was to review our experience with surgical correction of this often-concealed malformation and discuss methods for reducing diagnostic omission...
June 22, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28706863/non-functional-tricuspid-valve-disease
#10
REVIEW
Dale S Adler
Only 75% of severe tricuspid regurgitation is classified as functional, or related primarily to pulmonary hypertension, right ventricular dysfunction, or a combination of both. Non-functional tricuspid regurgitation occurs when there is damage to the tricuspid leaflets, chordae, papillary muscles, or annulus, independent of right ventricular dysfunction or pulmonary hypertension. The entities that cause non-functional tricuspid regurgitation include rheumatic and myxomatous disease, acquired and genetic connective tissue disorders, endocarditis, sarcoid, pacing, RV biopsy, blunt trauma, radiation, carcinoid, ergot alkaloids, dopamine agonists, fenfluramine, cardiac tumors, atrial fibrillation, and congenital malformations...
May 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#11
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#12
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28704916/three-dimensional-echocardiography-in-adult-congenital-heart-disease
#13
REVIEW
Hyun Suk Yang
Congenital heart disease (CHD) is now more common in adults than in children due to improvements in fetal echo, neonatal and pediatric care, and surgical techniques leading to dramatically increased survivability into adulthood. Adult patients with CHD, regardless of prior cardiac surgery, experience further cardiac problems or therapeutic challenges; therefore, a non-invasive, easily accessible echocardiographic examination is an essential follow-up tool. Among echocardiographic modalities, three-dimensional (3D) echocardiography provides better delineation of spatial relationships in complex cardiac geometries and more accurate volumetric information without geometric assumptions...
July 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28702716/can-the-pulmonary-artery-wedge-pressure-be-used-reliably-as-a-surrogate-for-the-left-atrial-mean-pressure-in-pre-fontan-evaluation
#14
Bassel Mohammad Nijres, Ra-Id Abdulla, Sawsan Awad, Joshua Murphy
The correlation between mean pulmonary artery wedge pressure (PAWP) and left atrial mean pressure (LAMP) has been poorly studied in patients with single ventricle (SV) physiology (Bernstein et al. in Pediatr Cardiol 33: 15-20 2012). The aim of this study is to determine if the PAWP can be used safely as a surrogate to the LAMP to calculate the pulmonary vascular resistance (PVR) during the pre-Fontan evaluation. Also, we aimed to understand if the presence of significant systemic-to-pulmonary collaterals (SPCs) is a confounding factor for accurate estimation of the LAMP...
July 12, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28702127/coordinating-heart-morphogenesis-a-novel-role-for-hyperpolarization-activated-cyclic-nucleotide-gated-hcn-channels-during-cardiogenesis-in-xenopus-laevis
#15
Emily Pitcairn, Hannah Harris, Justine Epiney, Vaibhav P Pai, Joan M Lemire, Bin Ye, Nian-Qing Shi, Michael Levin, Kelly A McLaughlin
Hyperpolarization-activated cyclic-nucleotide gated channel (HCN) proteins are important regulators of both neuronal and cardiac excitability. Among the 4 HCN isoforms, HCN4 is known as a pacemaker channel, because it helps control the periodicity of contractions in vertebrate hearts. Although the physiological role of HCN4 channel has been studied in adult mammalian hearts, an earlier role during embryogenesis has not been clearly established. Here, we probe the embryonic roles of HCN4 channels, providing the first characterization of the expression profile of any of the HCN isoforms during Xenopus laevis development and investigate the consequences of altering HCN4 function on embryonic pattern formation...
2017: Communicative & Integrative Biology
https://www.readbyqxmd.com/read/28697825/-screening-and-follow-up-for-congenital-heart-disease-in-children-aged-0-3-years-in-rural-areas-of-chongqing-china
#16
Lei Zhang, Mei-Yu An, Bing Zhu, Wan-Dong Shen, Shu-Jiang Tan, Xiao-Juan Ji, Jie Tian, Xiao-Yan Liu
OBJECTIVE: To examine the incidence of congenital heart disease (CHD) in children aged 0-3 years in the rural areas of Chongqing, and to determine the suitable "screening-diagnosis-follow-up" system and screening indicators for CHD in these areas. METHODS: Children aged 0-3 years from rural areas of the Fuling Disctrict of Chongqing were selected by cluster sampling. Using the "screening-diagnosis-evaluation system" employed at the levels of village/town, district/county, and province/city, the children were screened for seven indicators, i...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28687891/functional-analyses-of-a-novel-cited2-nonsynonymous-mutation-in-chinese-tibetan-patients-with-congenital-heart-disease
#17
Shiming Liu, Zhaobing Su, Sainan Tan, Bin Ni, Hong Pan, Beihong Liu, Jing Wang, Jianmin Xiao, Qiuhong Chen
CITED2 gene is an important cardiac transcription factor that plays a fundamental role in the formation and development of embryonic cardiovascular. Previous studies have showed that knock-out of CITED2 in mice might result in various cardiac malformations. However, the mechanisms of CITED2 mutation on congenital heart disease (CHD) in Chinese Tibetan population are still poorly understood. In the present study, 187 unrelated Tibetan patients with CHD and 200 unrelated Tibetan healthy controls were screened for variants in the CITED2 gene; we subsequently identified one potential disease-causing mutation p...
July 8, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28684073/craniofacial-and-extracraniofacial-anomalies-in-craniofacial-macrosomia-a-multicenter-study-of-755-patients
#18
Cornelia J J M Caron, Britt I Pluijmers, Eppo B Wolvius, Caspar W N Looman, Neil Bulstrode, Robert D Evans, Peter Ayliffe, John B Mulliken, David Dunaway, Bonnie Padwa, Maarten J Koudstaal
PURPOSE: Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition...
June 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28679150/microarray-based-bioinformatics-analysis-of-the-combined-effects-of-sinps-and-pbac-on-cardiovascular-system-in-zebrafish
#19
Hejing Hu, Yannan Zhang, Yanfeng Shi, Lin Feng, Junchao Duan, Zhiwei Sun
With rapid development of nanotechnology and growing environmental pollution, the combined toxic effects of SiNPs and pollutants of heavy metals like lead have received global attentions. The aim of this study was to explore the cardiovascular effects of the co-exposure of SiNPs and lead acetate (PbAc) in zebrafish using microarray and bioinformatics analysis. Although there was no other obvious cardiovascular malformation except bleeding phenotype, bradycardia, angiogenesis inhibition and declined cardiac output in zebrafish co-exposed of SiNPs and PbAc at NOAEL level, significant changes were observed in mRNA and microRNA (miRNA) expression patterns...
October 2017: Chemosphere
https://www.readbyqxmd.com/read/28675425/foxc2-influences-alveolar-epithelial-cell-differentiation-during-lung-development
#20
Mayoko Tsuji, Masae Morishima, Kazuhiko Shimizu, Shunichi Morikawa, Mikael Heglind, Sven Enerbäck, Taichi Ezaki, Jun Tamaoki
FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Mutant fetuses at embryonic days 10.5-18.5 were obtained from mating of Foxc2(+/-) mice and then analyzed...
July 4, 2017: Development, Growth & Differentiation
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