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Congenital heart defect research

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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
#1
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/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
#2
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/29286273/the-2017-seventh-world-congress-of-pediatric-cardiology-cardiac-surgery-week-in-review-imaging
#3
Elif S Selamet Tierney
The Imaging Program at the 7th World Congress highlighted the versatility and diagnostic power of the current and upcoming imaging tools in Pediatric Cardiology and Cardiac Surgery. Several experts presented interesting as well as practical data on the use of 2D and 3D Echocardiography, magnetic resonance imaging and computed tomography in the fetus, child, and adult with congenital heart disease. Bridging sessions coupled use of these imaging modalities and screening practices in patients with acquired heart disease...
December 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29281616/influence-of-type-of-congenital-heart-defects-on-epithelial-lining-fluid-composition-in-infants-undergoing-cardiac-surgery-with-cardiopulmonary-bypass
#4
Manuela Simonato, Aldo Baritussio, Virgilio P Carnielli, Luca Vedovelli, Gianclaudio Falasco, Michele Salvagno, Massimo Padalino, Paola Cogo
BACKGROUND: In children with congenital heart disease (CHD), altered pulmonary circulation compromises gas exchange. Moreover, pulmonary dysfunction is a complication of cardiac surgery with cardiopulmonary bypass (CPB). No data are available on the effect of different CHDs on lung injury. The aim of this study was to analyze epithelial lining fluid (ELF) surfactant composition in children with CHD. METHODS: Tracheal aspirates (TAs) from 72 CHD children [age 2.9 (0...
December 27, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29261645/fetal-somatic-growth-trajectory-differs-by-type-of-congenital-heart-disease
#5
Kriti Puri, Carri R Warshak, Mounira A Habli, Amy Yuan, Rashmi D Sahay, Eileen C King, Allison Divanovic, James F Cnota
BackgroundThe growth trajectories of common measurements, including estimated fetal weight (EFW), head circumference (HC), and abdominal circumference (AC), in fetuses with congenital heart disease (CHD) have not been described for different cardiac lesions. We hypothesized that (i) fetuses with CHD have differential growth in utero, and (ii) different categories of CHD demonstrate different in utero growth curves.MethodsWe performed a retrospective observational cohort study of pregnancies with known fetal CHD seen from January 2000 to June 2013...
December 20, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29240546/the-psychosocial-themes-of-children-with-a-congenital-heart-defect
#6
Ronél van der Watt, Carina Pheiffer, Stephen Brown
Children living with a congenital heart defect (CHD) carry the burden of a condition affecting their biological, psychological, and social functioning. Even though the physical heartbeats of these children might be inaudible and defective, their intra- and inter-personal 'stories in sound' need to be heard and understood. The aim of this research study was to explore these 'stories in sound' in children diagnosed with CHD. A qualitative, exploratory, descriptive study using thematic analysis was conducted. Semi-structured interviews were conducted with six boys and three girls between the ages of eight and fourteen years, who were diagnosed with CHD...
November 2017: Journal of Child and Adolescent Mental Health
https://www.readbyqxmd.com/read/29237533/-research-advances-in-the-mechanism-of-congenital-heart-disease-induced-by-pregestational-diabetes-mellitus
#7
Jie Wang, Feng Wang, Yong-Hao Gui
Congenital heart disease (CHD) is the most common birth defect at present and has a complex etiology which involves the combined effect of genetic and environmental factors. Pregestational diabetes mellitus is significantly associated with the development of CHD, but the detailed mechanism remains unknown. This article reviews the research advances in the molecular mechanism of CHD caused by pregestational diabetes mellitus.
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29218069/down-syndrome-genetics-and-cardiogenetics
#8
Vasilica Plaiasu
During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21...
September 2017: Mædica
https://www.readbyqxmd.com/read/29187100/congenital-heart-defects-in-nigerian-children-preliminary-data-from-the-national-pediatric-cardiac-registry
#9
Ekanem N Ekure, Fidelia Bode-Thomas, Wilson E Sadoh, Adeola A Orogade, Barbara E Otaigbe, Fortune Ujunwa, Usman M Sani, Mustafa Asani, Adeola B Animasahun, Oluwatoyin O Ogunkunle
BACKGROUND: Congenital heart defects (CHDs) are common birth defects with significant impact on morbidity and mortality. We aimed to compare regional patterns of CHDs in Nigeria using a registry-based approach. METHODS: Children with echocardiography-confirmed CHDs at 17 medical centers across the country were enrolled in a pilot National Pediatric Cardiac Registry from January to December 2014. RESULTS: A total of 1,296 children (52.9% male; median age 0...
November 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29176804/one-crisis-diverse-impacts-tissue-specificity-of-folate-deficiency-induced-circulation-defects-in-zebrafish-larvae
#10
Hung-Chi Tu, Gang-Hui Lee, Tsun-Hsien Hsiao, Tseng-Ting Kao, Tzu-Ya Wang, Jen-Ning Tsai, Tzu-Fun Fu
Folate (vitamin B9) is an essential nutrient required for cell survival, proliferation, differentiation and therefore embryogenesis. Folate deficiency has been associated with many diseases, including congenital heart diseases and megaloblastic anemia, yet the mechanisms underlying these remains elusive. Here, we examine the impact of folate deficiency on the development of the circulation system using a zebrafish transgenic line which displays inducible folate deficiency. Impaired hematopoiesis includes decreased hemoglobin levels, decreased erythrocyte number, increased erythrocyte size and aberrant c-myb expression pattern were observed in folate deficient embryos...
2017: PloS One
https://www.readbyqxmd.com/read/29152921/proximity-to-pediatric-cardiac-surgical-care-among-adolescents-with-congenital-heart-defects-in-11-new-york-counties
#11
Kristin M Sommerhalter, Tabassum Z Insaf, Tugba Akkaya-Hocagil, Claire E McGarry, Sherry L Farr, Karrie F Downing, George K Lui, Ali N Zaidi, Alissa R Van Zutphen
BACKGROUND: Many individuals with congenital heart defects (CHDs) discontinue cardiac care in adolescence, putting them at risk of adverse health outcomes. Because geographic barriers may contribute to cessation of care, we sought to characterize geographic access to comprehensive cardiac care among adolescents with CHDs. METHODS: Using a population-based, 11-county surveillance system of CHDs in New York, we characterized proximity to the nearest pediatric cardiac surgical care center among adolescents aged 11 to 19 years with CHDs...
November 1, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29152920/using-state-birth-defects-registries-to-evaluate-regional-critical-congenital-heart-disease-newborn-screening
#12
Amy Peterson Case, Stephanie D Miller, Monica R McClain
BACKGROUND: Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes...
November 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#13
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#14
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29056682/mapping-heart-development-in-flies-src42a-acts-non-autonomously-to-promote-heart-tube-formation-in-drosophila
#15
Jessica Vanderploeg, J Roger Jacobs
Congenital heart defects, clinically identified in both small and large animals, are multifactorial and complex. Although heritable factors are known to have a role in cardiovascular disease, the full genetic aetiology remains unclear. Model organism research has proven valuable in providing a deeper understanding of the essential factors in heart development. For example, mouse knock-out studies reveal a role for the Integrin adhesion receptor in cardiac tissue. Recent research in Drosophila melanogaster (the fruit fly), a powerful experimental model, has demonstrated that the link between the extracellular matrix and the cell, mediated by Integrins, is required for multiple aspects of cardiogenesis...
April 24, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29041891/-functional-state-of-vascular-endothelium-in-patients-with-pulmonary-arterial-hypertension-associated-with-congenital-heart-diseases
#16
Y E Emelyanchik, G N Vol'f, A O Vesemiller, B A Salmina
In this article, we present results of the study of blebbing activity of membranes of peripheral blood lymphocytes, concentrations of soluble platelet/endothelial cell adhesion molecule 1, and vascular endothelial growth factor (VEGF) in patients with pulmonary arterial hypertension associated with congenital heart diseases. The research has shown that hypoxia and hemodynamic factors are the initiators of blebbing of membrane of peripheral blood lymphocytes. The activity of blebbing increases in parallel with the severity of the disease...
August 2017: Kardiologiia
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#17
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
September 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29016556/the-current-status-and-future-of-cardiac-stem-progenitor-cell-therapy-for-congenital-heart-defects-from-diabetic-pregnancy
#18
REVIEW
Jianxiang Zhong, Shengbing Wang, Wei-Bin Shen, Sunjay Kaushal, Peixin Yang
Pregestational maternal diabetes induces congenital heart defects (CHDs). Cardiac dysfunction after palliative surgical procedures contributes to the high mortality of CHD patients. Autologous or allogeneic stem cell therapies are effective for improving cardiac function in animal models and clinical trials. c-kit(+) cardiac progenitor cells (CPCs), the most recognized CPCs, have the following basic properties of stem cells: self-renewal, multicellular clone formation, and differentiation into multiple cardiac lineages...
October 10, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28976740/3d-printed-pericardium-hydrogels-to-promote-wound-healing-in-vascular-applications
#19
Laura G Bracaglia, Michael Messina, Shira Winston, Che-Ying Kuo, Max Lerman, John P Fisher
Vascular grafts that can support total replacement and maintenance by the body of the injured vessel would improve outcomes of major surgical reconstructions. Building scaffolds using components of the native vessel can encourage biological recognition by native cells as well as mimic mechanical characteristics of the native vessel. Evidence is emerging that incorporating predetermined building-blocks into a tissue engineering scaffold may oversimplify the environment and ignore critical structures and binding sites essential to development at the implant...
October 16, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#20
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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