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Congenital heart defect research

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https://www.readbyqxmd.com/read/28646505/hypomethylation-and-decreased-expression-of-brg1-in-the-myocardium-of-patients-with-congenital-heart-disease
#1
Yanyan Qian, Deyong Xiao, Xiao Guo, Hongbo Chen, Lili Hao, Xiaojing Ma, Guoying Huang, Duan Ma, Huijun Wang
BACKGROUND: BRG1, an ATPase subunit of the SWItch/Sucrose Non-Fermentable complex, is tightly associated with cardiac development. However, little is known about the association between the pathogenesis of CHD and BRG1. METHODS: The methylation of a BRG1 promoter and a novel CpG island in the second intron was analyzed in the myocardium of congenital heart disease (CHD) patients (n = 24) and normal controls (n = 11) using pyrosequencing and the MassARRAY platform...
June 24, 2017: Birth defects research
https://www.readbyqxmd.com/read/28627006/parents-perceptions-during-the-transition-to-home-for-their-child-with-a-congenital-heart-defect-how-can-we-support-families-of-children-with-hypoplastic-left-heart-syndrome
#2
Sarita March
PURPOSE: The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). DESIGN AND METHODS: A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD...
June 18, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#3
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28624838/dental-management-of-pediatric-patients-affected-by-pulmonary-atresia-with-ventricular-septal-defect-a-scoping-review
#4
A Garrocho-Rangel, A-C Echavarría-García, M-A Rosales-Bérber, J Flores-Velázquez, A Pozos-Guillén
BACKGROUND: Congenital Heart Diseases (CHD) involves a wide range of pathological conditions, such as Pulmonary Atresia with Ventricle Septal Defect (PA/VSD). This disorder leads to the systemic circulation of oxygen-poor blood (cyanosis), with associated features and consequences in the oral cavity. MATERIAL AND METHODS: Using scoping review methodology for screening and article selection, the primary objectives of this paper were as follows: first, to pose a research question; second, to identify relevant studies in order to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles on the dental management of children affected with PA/VSD...
June 18, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/28615160/nkx2-5-is-essential-to-establish-normal-heart-rate-variability-in-the-zebrafish-embryo
#5
Jamie K Harrington, Robert Sorabella, Abigail Tercek, Joseph R Isler, Kimara L Targoff
Heart rate variability (HRV) has become an important clinical marker of cardiovascular health and a research measure for the study of the cardiac conduction system and its autonomic controls. While zebrafish (Danio rerio) is an ideal vertebrate model for understanding heart development, HRV has only recently been investigated in this system. We have previously demonstrated that nkx2.5 and nkx2.7, two homologues of Nkx2-5 expressed in zebrafish cardiomyocytes, play vital roles in maintaining cardiac chamber-specific characteristics...
June 14, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28557866/imaging-adult-patients-with-discrete-subvalvar-aortic-stenosis
#6
Alexander R Opotowsky, Sarah S Pickard, Tal Geva
PURPOSE OF REVIEW: Distinction between discrete subvalvar aortic stenosis and other causes of left ventricular outflow obstruction has important implications for predicting natural history and guiding the timing and type of intervention. Imaging, primarily transthoracic echocardiography (TTE), plays a pivotal role in the diagnosis and management of adults with subvalvar aortic stenosis. RECENT FINDINGS: Most systematic research on imaging of subvalvar aortic stenosis has focused on echocardiography...
May 26, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#7
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth defects research
https://www.readbyqxmd.com/read/28484359/evaluation-of-congenital-heart-defects-treatment-options-establishment-of-pediatric-cardiology-cardiosurgery-in-bosnia-and-herzegovina
#8
REVIEW
Zijo Begic, Sanko Pandur, Edo Omerbasic, Almira Kadic, Mirza Halimic
INTRODUCTION: Modern pediatric cardiology mainly deals with congenital heart defects (CHD), as the most common congenital anomalies. In most cases CHD requires surgical or interventional treatment. GOAL: The goal of the research was to evaluate CHD treatment at Pediatric Clinic, University Clinical Center (UCC) Sarajevo, Bosnia and Herzegovina (B&H). UCC Sarajevo is the only institution in B&H where cardiac treatment of CHD in pediatric population is performed. Pediatric cardiosurgery has started to develop in Bosnia and Herzegovina in April 1997...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28411047/immunodepression-after-cpb-cytokine-dynamics-and-clinics-after-pediatric-cardiac-surgery-a-prospective-trial
#9
Georgia Justus, Christoph Walker, Lisa-Maria Rosenthal, Felix Berger, Oliver Miera, Katharina Rose Luise Schmitt
BACKGROUND: Corrective surgery for congenital heart defects is known to trigger a severe immune reaction. There has been extensive research on the effects of inflammation after cardiopulmonary bypass (CPB). Interestingly, monocytes are observed to be non-responsive to stimulation with lipopolysaccharide (LPS) under these conditions, indicating a state of immunodepression, which lays the ground for second hit infections after cardiosurgery with CPB. OBJECTIVES: The aim of this prospective study was to analyze immunodepression after pediatric cardiopulmonary bypass and to differentiate the effects of monocytic anergy on postoperative outcome...
April 11, 2017: Cytokine
https://www.readbyqxmd.com/read/28402072/congenital-lung-agenesis-incidence-and-outcome-in-the-north-of-england
#10
Matthew Thomas, Nic Robertson, Nicola Miller, Judith Rankin, Michael McKean, Malcom Brodlie
BACKGROUND: Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. METHODS: The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management...
April 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28398667/costs-mortality-and-hospital-usage-in-relation-to-prenatal-diagnosis-in-d-transposition-of-the-great-arteries
#11
Nelangi M Pinto, Richard Nelson, Lorenzo Botto, Michael D Puchalski, Sergey Krikov, Jaewhan Kim, Norman J Waitzman
BACKGROUND: The impact of prenatal diagnosis of d-transposition of the great arteries (dTGA) on health-care usage is largely unknown. We evaluated a population-based cohort to assess costs, mortality and inpatient encounters by whether dTGA was prenatally diagnosed or not. METHODS: The dTGA cases (born 1997-2011) identified at the Utah Birth Defect Network, which includes data on timing of diagnosis, were linked to statewide inpatient discharge data. We excluded preterm cases or cases with additional major heart defects...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#12
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28398664/rare-copy-number-variants-in-patients-with-congenital-conotruncal-heart-defects
#13
Hongbo M Xie, Petra Werner, Dwight Stambolian, Joan E Bailey-Wilson, Hakon Hakonarson, Peter S White, Deanne M Taylor, Elizabeth Goldmuntz
BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28393063/neuropsychological-and-psychiatric-outcomes-in-dextro-transposition-of-the-great-arteries-across-the-lifespan-a-state-of-the-art-review
#14
REVIEW
Leila Kasmi, Damien Bonnet, Michèle Montreuil, David Kalfa, Nikoletta Geronikola, David C Bellinger, Johanna Calderon
Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28392102/creatine-phosphate-administration-in-cell-energy-impairment-conditions-a-summary-of-past-and-present-research
#15
REVIEW
A V Gaddi, P Galuppo, J Yang
BACKGROUND: Creatine phosphate (CrP) plays a fundamental physiological role by providing chemical energy for cell viability and activity, especially in muscle tissue. Numerous pathological conditions, caused by acute or chronic ischaemic situations, are related to its deficiency. For these reasons, it has been used as a cardioprotective agent in heart surgery and medical cardiology for many years. OBJECTIVE: This article gives a brief overview of the main characteristics of exogenous CrP...
March 14, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28371265/oral-facial-digital-syndrome-type-1-in-males-congenital-heart-defects-are-included-in-its-phenotypic-spectrum
#16
Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne-Marie van der Kevie-Kersemaekers, Merel van Maarle
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#17
REVIEW
Meagan G Grant, Victoria L Patterson, Daniel T Grimes, Rebecca D Burdine
Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Zebrafish have proven informative as a model organism to understand both heart development and the mechanisms associated with CHDs due to the similarities in heart morphogenesis among vertebrates, as well as their genetic tractability and amenability to live imaging...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28333672/case-report-pediatric-scar-management-after-open-heart-surgery
#18
Ha Phan, Beau Harger, Nick Estrada
Tetralogy of Fallot is a congenital disease caused by structural defects within the heart that can lead to cyanosis. The purpose of this case report is to discuss the use of PracaSil-Plus, a proprietary topical anhydrous silicone base containing pracaxi oil, in scar-management therapy, following open-heart surgery on a pediatric patient with tetralogy of Fallot. The Patient and Observer Scar Assessment Scale was the research instrument used to evaluate for efficacy of the scar therapy. Following 8 weeks of treatment with PracaSil-Plus, reduction in scores were observed for scar color, stiffness, thickness, and irregularity, with improvements of 87...
July 2016: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#19
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28279500/how-often-is-congenital-heart-disease-recognized-as-a-significant-comorbidity-among-hospitalized-adults-with-congenital-heart-disease
#20
James M Robbins, Jennifer Onukwube, Anthony Goudie, R Thomas Collins
BACKGROUND: Despite frequent life-long hemodynamic and electrophysiologic abnormalities, adults with congenital heart defects (CHDs) are often lost to medical follow-up. Using a cohort of adults with CHD receiving hospital care in Arkansas, we sought to determine how often a CHD is recognized and coded during hospital admissions. METHODS: Data for this study come from the Agency for Healthcare Research and Quality's Arkansas State Inpatient Database (SID) for years 2004 to 2012...
May 15, 2017: International Journal of Cardiology
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