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https://www.readbyqxmd.com/read/28224101/vein-of-galen-malformation-in-a-neonate-a-case-report-and-review-of-endovascular-management
#1
Surasak Puvabanditsin, Rajeev Mehta, Kristy Palomares, Natalie Gengel, Christina Ferrucci Da Silva, Sudipta Roychowdhury, Gaurav Gupta, Arun Kashyap, David Sorrentino
Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28214734/developmental-toxicity-and-molecular-responses-of-marine-medaka-oryzias-melastigma-embryos-to-ciguatoxin-p-ctx-1-exposure
#2
Meng Yan, Priscilla T Y Leung, Jack C H Ip, Jin-Ping Cheng, Jia-Jun Wu, Jia-Rui Gu, Paul K S Lam
Ciguatoxins are produced by toxic benthic dinoflagellates and cause ciguatera fish poisoning worldwide, but the toxic effects on developing marine fish have not been well investigated. The Pacific ciguatoxin (P-CTX-1), is a potent sodium channel agonist, which is one of the most toxic members among all CTXs. This study evaluated the toxic effects of microinjecting purified Pacific ciguatoxin-1 (P-CTX-1) on embryonic development of marine medaka Oryzias melastigma. A lower 96h-LD50 value was estimated for eleuthero-embryos (1...
February 10, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28213819/conditional-knockout-of-activin-like-kinase-1-alk-1-leads-to-heart-failure-without-maladaptive-remodeling
#3
Kevin J Morine, Xiaoying Qiao, Vikram Paruchuri, Mark J Aronovitz, Emily E Mackey, Lyanne Buiten, Jonathan Levine, Keshan Ughreja, Prerna Nepali, Robert M Blanton, Richard H Karas, S Paul Oh, Navin K Kapur
Activin like kinase-1 (AlK-1) mediates signaling via the transforming growth factor beta (TGFβ) family of ligands. AlK-1 activity promotes endothelial proliferation and migration. Reduced AlK-1 activity is associated with arteriovenous malformations. No studies have examined the effect of global AlK-1 deletion on indices of cardiac remodeling. We hypothesized that reduced levels of AlK-1 promote maladaptive cardiac remodeling. To test this hypothesis, we employed AlK-1 conditional knockout mice (cKO) harboring the ROSA26-CreER knock-in allele, whereby a single dose of intraperitoneal tamoxifen triggered ubiquitous Cre recombinase-mediated excision of floxed AlK-1 alleles...
February 17, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28208971/a-rare-association-of-pentalogy-of-fallot-with-situs-inversus-totalis-complicated-by-brain-abscess-in-an-adolescent-case-report
#4
Muhammed Basheer, Sunil Kumar Agarwalla
Tetralogy of Fallot (TOF) is the most frequently diagnosed congenital cyanotic heart disease. It is often associated with additional findings, such as atrial septal defect (i.e., pentalogy of Fallot) or right sided aortic arch. Association of this pentalogy of Fallot with situs inversus totalis is rarely reported in paediatric literature and it can cause technical challenges to intracardiac repair. We report the case of pentalogy of Fallot with dextrocardia and situs inversus presenting as parieto-occipital abscess in a 12-year-old child...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28197657/gestational-diabetes-and-adverse-perinatal-outcomes-from-716-152-births-in-france-in-2012
#5
Cécile Billionnet, Delphine Mitanchez, Alain Weill, Jacky Nizard, François Alla, Agnès Hartemann, Sophie Jacqueminet
AIMS/HYPOTHESIS: The aim of this study was to assess the risk of adverse perinatal outcomes in gestational diabetes mellitus (GDM) in a large national cohort. METHODS: All deliveries taking place after 22 weeks in France in 2012 were included by extracting data from the hospital discharge database and the national health insurance system. The diabetic status of mothers was determined by the use of glucose-lowering agents and by hospital diagnosis. Outcomes were analysed according to the type of diabetes and, in the GDM group, whether or not diabetes was insulin-treated...
February 15, 2017: Diabetologia
https://www.readbyqxmd.com/read/28194284/coronary-cameral-fistula-connecting-the-left-anterior-descending-artery-and-the-first-obtuse-marginal-artery-to-the-left-ventricle-a-rare-finding
#6
Abdul Mannan Khan Minhas, Ehtesham Ul Haq, Ahmed Arslan Yousuf Awan, Arshad Ameer Khan, Ghazanfar Qureshi, Pragathi Balakrishna
Coronary-cameral fistulas are rare congenital malformations, often incidentally found during cardiac catheterizations. The majority of these fistulas are congenital in nature but can be acquired secondary to trauma or invasive cardiac procedures. These fistulas most commonly originate in the right coronary artery and terminate into the right ventricle and least frequently drain into the left ventricle. Depending upon their size and location, coronary-cameral fistulas can lead to congestive heart failure, myocardial infarction, and bacterial endocarditis...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28190454/somatic-map2k1-mutations-are-associated-with-extracranial-arteriovenous-malformation
#7
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/28187362/6-2-chlorinated-polyfluorinated-ether-sulfonate-a-pfos-alternative-induces-embryotoxicity-and-disrupts-cardiac-development-in-zebrafish-embryos
#8
Guohui Shi, Qianqian Cui, Yitao Pan, Nan Sheng, Sujie Sun, Yong Guo, Jiayin Dai
As an alternative to perfluorooctanesulfonate (PFOS), 6:2 chlorinated polyfluorinated ether sulfonate (commercial name: F-53B) has been used as a mist suppressant in Chinese electroplating industries for over 30 years. It has been found in the environment and fish, and one acute assay indicated F-53B was moderately toxic. However, the toxicological information on this compound was incomplete and insufficient for assessment of their environment impact. The object of this study was to examine the developmental toxicity of F-53B using zebrafish embryos...
February 3, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28186601/-analysis-of-the-cause-of-pregnancy-failure-with-combined-mlpa-assay-for-subtelomeric-regions-and-ultrasonography
#9
Ying Zhao, Jiwu Lou, Manna Sun, Youqing Fu, Yanhui Liu
OBJECTIVE: To explore the value of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome abnormalities in miscarriage tissues, and to correlate the result with ultrasound findings. METHODS: A total of 421 cases of spontaneous abortions and fetal deaths were detected with the MLPA method. RESULTS: Among the 421 samples, 232 (55.11%) had an abnormal MLPA result. For the 286 cases derived from < 13 weeks pregnancy, 206 (72...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28180202/applicability-and-technical-aspects-of-two-dimensional-ultrasonography-for-assessment-of-fetal-heart-function
#10
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Luciano Marcondes Nardozza, Alex Sandro Souza, Edward Araujo Júnior
In recent years, fetal echocardiography has been used for the screening and diagnosis of anatomical heart defects and for the detailed study of fetal cardiac function. This method is characterized by its easy implementation and good reproducibility, allowing the diagnosis of myocardial dysfunction even in its subclinical phase. The functional assessment of the fetal heart should be routinely performed in fetuses with congenital heart disease and those without anatomical malformation. Several extra-cardiac conditions may alter fetal cardiac function, by increased placental resistance, volume overload or hyperdynamic circulation, compression, or maternal systemic disease with involvement of the fetal myocardium...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28180030/serial-measurement-of-superior-vena-cava-flow-in-evaluation-of-the-clinical-severity-of-pial-arteriovenous-fistula-in-an-infant
#11
Mako Ago, Kenichi Masumoto, Atsushi Uchiyama, Yasuo Aihara, Yoshikazu Okada, Satoshi Kusuda
Background Pial arteriovenous fistula (AVF) is composed of one or more direct arterial feeding vessels with a single draining vein without nidus. A patient with the disease with high-flow AV shunting in the neonatal period not only suffers from high-output cardiac failure but also shows secondary neurological sequelae. In vein of Galen aneurysmal malformation, superior vena cava (SVC) flow measurements provide useful prognostic information. Case Presentation We measured serial SVC flow in a male infant with pial AVF...
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28178121/a-case-report-of-congenital-umbilical-arteriovenous-malformation-complicated-with-liver-failure-after-surgical-excision
#12
Ji-Won Han, Hyun-Young Kim, Sung-Eun Jung
RATIONALE: Few case reports of umbilical arteriovenous malformation (AVM) have been reported. Herein, we report a neonatal case of umbilical AVM who underwent liver failure after surgical excision. PATIENT CONCERNS: The patient was a girl delivered at a gestational age of 39+5 weeks showing cyanosis and heart murmur. DIAGNOSES: Cardiac echography, abdominal ultrasonography (USG), and computed tomography revealed suspecting the umbilical AVM...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#13
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in 2 referral centers. RESULTS: RAA was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28167492/disruption-of-pdgfra-alters-endocardial-and-myocardial-fusion-during-zebrafish-cardiac-assembly
#14
Suzan El-Rass, Shahram Eisa-Beygi, Edbert Khong, Koroboshka Brand-Arzamendi, Antonio Mauro, Haibo Zhang, Karl J Clark, Stephen C Ekker, Xiao-Yan Wen
Cardiac development in vertebrates is a finely tuned process regulated by a set of conserved signaling pathways. Perturbations of these processes are often associated with congenital cardiac malformations. Platelet-derived growth factor receptor α (PDGFRα) is a highly conserved tyrosine kinase receptor, which is essential for development and organogenesis. Disruption of Pdgfrα function in murine models are embryonic lethal due to severe cardiovascular defects, suggesting a role in cardiac development, thus necessitating the use of alternative models to explore its precise function...
February 6, 2017: Biology Open
https://www.readbyqxmd.com/read/28166998/isolated-tracheoesophageal-fistula-versus-esophageal-atresia-early-morbidity-and-short-term-outcome-a-single-institution-series
#15
R B Tröbs, W Finke, M Bahr, C Roll, M Nissen, M R Vahdad, G Cernaianu
PURPOSE: We compared the postnatal course, morbidity and early results after repair for cases of isolated or "pure" TEF with those for cases of esophageal atresia (EA) with distal tracheoesophageal fistula (TEF). METHODS: Twenty-four consecutive infants were divided into two groups: isolated TEF [TEF group] (n = 5) and EA with distal TEF [EA group] (n = 19). RESULTS: A high rate of prematurity (29%) and major cardiac and other surgically-relevant malformations (0...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28157139/genetic-basis-of-aortic-valvular-disease
#16
Sara N Koenig, Joy Lincoln, Vidu Garg
PURPOSE OF REVIEW: Aortic valve disease is relatively common and encompasses both congenital and acquired forms. Bicuspid aortic valve (BAV) is the most common type of cardiac malformation and predisposes to the development of calcific aortic valve disease (CAVD). Since the description of the link between NOTCH1, BAV and CAVD approximately a decade ago, there have been significant advances in the genetic and molecular understanding of these diseases. RECENT FINDINGS: Recent work has defined the congenital cardiac phenotypes linked to mutations in NOTCH1, and in addition, novel etiologic genes for BAV have been discovered using new genetic technologies in humans...
February 2, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28151866/acute-arterial-embolism-of-left-lower-extremity-caused-by-paradoxical-embolism-in-ebstein-s-anomaly-a-case-report
#17
Jun-Sheng Li, Jie Ma, Zi-Xing Yan, Dong-Ming Cheng, Liang Chang, Hai-Chun Zhang, Jiang-Yan Liu
INTRODUCTION: Ebstein's anomaly is a benign and stable congenital heart disease for asymptomatic patients. Despite a low incidence of Ebstein's anomaly (EA), patients' quality of life can be badly affected by EA without positive surgical intervention. Especially EA is associated with other congenital heart disease, such as the atrial septal defect, patent foramen ovale, and arterial embolism exclude other reasons, it is often considered to be the consequence of paradoxical embolism, and surgical intervention must be conducted...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28140622/exaggerated-interventricular-dependence-among-patients-with-pectus-excavatum-combined-assessment-with-cardiac-mri-and-chest-ct
#18
Alejandro Deviggiano, Javier Vallejos, Natalia Vina, Marcelo Martinez-Ferro, Gaston Bellia-Munzon, Patricia Carrascosa, Gaston A Rodríguez-Granillo
OBJECTIVE: We sought to explore whether patients with pectus excavatum have exaggerated interventricular dependence and to evaluate the impact of the malformation severity (assessed on CT) on both anatomic and functional cardiac parameters (assessed on cardiac MRI). SUBJECTS AND METHODS: The current study involved consecutive patients with a diagnosis of pectus excavatum who were referred to undergo cardiac MRI and chest CT to establish surgical candidacy or to define treatment strategies...
January 31, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28139666/a-novel-cardiotoxic-mechanism-for-a-pervasive-global-pollutant
#19
Fabien Brette, Holly A Shiels, Gina L J Galli, Caroline Cros, John P Incardona, Nathaniel L Scholz, Barbara A Block
The Deepwater Horizon disaster drew global attention to the toxicity of crude oil and the potential for adverse health effects amongst marine life and spill responders in the northern Gulf of Mexico. The blowout released complex mixtures of polycyclic aromatic hydrocarbons (PAHs) into critical pelagic spawning habitats for tunas, billfishes, and other ecologically important top predators. Crude oil disrupts cardiac function and has been associated with heart malformations in developing fish. However, the precise identity of cardiotoxic PAHs, and the mechanisms underlying contractile dysfunction are not known...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28132091/a-case-of-unusual-configuration-of-the-right-bronchial-arteries-combined-with-cryptogenic-severe-bilateral-hypertrophy
#20
Santiago Rojas, Eduard Quintana, Marisa Ortega, Alfonso Rodríguez-Baeza
Bronchial arteries commonly originate from thoracic aorta between T5 and T6. Ectopic origins from aortic arch, supraortic trunks and their branches, coronary arteries, and even abdominal aorta have been described in the literature. In some circumstances, such as pulmonary artery malformations, chronic embolism, or inflammatory diseases of the lung, the bronchial arteries become hypertrophied and eventually could be the only supply of pulmonary circulation. Here, we describe a case of an elderly man who presented an unusual pattern of bronchial arteries of the right lung combined with severe bilateral hypertrophy of bronchial vessels...
January 28, 2017: Surgical and Radiologic Anatomy: SRA
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