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Congenital heart defect research

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https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28243582/medically-related-post-traumatic-stress-in-children-and-adolescents-with-congenital-heart-defects
#5
REVIEW
Maya G Meentken, Ingrid M van Beynum, Jeroen S Legerstee, Willem A Helbing, Elisabeth M W J Utens
Children and adolescents with a congenital heart defect (ConHD) frequently undergo painful or frightening medical procedures and hospitalizations. They often need multiple invasive procedures at a very young age and require regular checkups during their entire life. From other pediatric populations, it is known that these kinds of experiences can result in acute stress reactions and even in post-traumatic stress disorder (PTSD) in the long-term. PTSD and also subthreshold PTSD can lead to serious (psychosocial) impairment...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28182589/bicuspid-aortic-valve-aortopathy-mechanistic-and-clinical-insights-from-recent-studies
#6
David G Guzzardi, Subodh Verma, Paul W M Fedak
PURPOSE OF REVIEW: This focused review summarizes key insights from the past 12 months of basic science and clinical research on bicuspid aortic valve (BAV)-associated aortopathy. RECENT FINDINGS: Recent studies in BAV-associated aortopathy support a heterogeneous spectrum of disease with distinct phenotypes. Basic science studies provide further support for the concept of regional differences in the severity of aortopathy within the aorta of BAV patients. Clinical studies compared outcomes of BAV patients after isolated aortic valve replacement and showed that those with primarily valvular insufficiency as compared with stenosis may be at greater risk for important aortic events over time...
March 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28178169/an-artificial-neural-network-prediction-model-of-congenital-heart-disease-based-on-risk-factors-a-hospital-based-case-control-study
#7
Huixia Li, Miyang Luo, Jianfei Zheng, Jiayou Luo, Rong Zeng, Na Feng, Qiyun Du, Junqun Fang
An artificial neural network (ANN) model was developed to predict the risks of congenital heart disease (CHD) in pregnant women.This hospital-based case-control study involved 119 CHD cases and 239 controls all recruited from birth defect surveillance hospitals in Hunan Province between July 2013 and June 2014. All subjects were interviewed face-to-face to fill in a questionnaire that covered 36 CHD-related variables. The 358 subjects were randomly divided into a training set and a testing set at the ratio of 85:15...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151402/mental-health-among-parents-of-children-with-critical-congenital-heart-defects-a-systematic-review
#8
REVIEW
Sarah E Woolf-King, Alexandra Anger, Emily A Arnold, Sandra J Weiss, David Teitel
BACKGROUND: Parents of children with critical congenital heart defects (PCCHDs) may be at high risk for mental health morbidity; however, the literature is not well characterized. Given that compromised parental mental health can lead to long-term cognitive, health-related, and behavioral problems in children, a systematic review of this literature could provide informed recommendations for continued research and enhance the care of families of children living with critical congenital heart defects...
February 1, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28096041/advance-care-planning-in-adults-with-congenital-heart-disease-a-patient-priority
#9
Lisa X Deng, Lacey P Gleason, Abigail M Khan, David Drajpuch, Stephanie Fuller, Leah A Goldberg, Christopher E Mascio, Sara L Partington, Lynda Tobin, Yuli Y Kim, Adrienne H Kovacs
BACKGROUND: Adult congenital heart disease (ACHD) patients with moderate or great defect complexity are at risk for premature death. Although early engagement in advance care planning (ACP) is recommended, previous research suggests that it seldom occurs. METHODS: This study investigated ACHD patient preferences for ACP and factors that impact preferences. ACHD patients completed an ACP preferences questionnaire, the Hospital Anxiety and Depression Scale and a measure of attachment styles...
March 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28086762/prevalence-and-risk-factors-of-congenital-heart-defects-among-live-births-a-population-based-cross-sectional-survey-in-shaanxi-province-northwestern-china
#10
Leilei Pei, Yijun Kang, Yaling Zhao, Hong Yan
BACKGROUND: Nearly half of the population of Northwest China live in Shaanxi province, but population-based data on the epidemiologic characteristics of congenital heart defects (CHD) in this population is limited. The study aimed to investigate the prevalence and epidemiologic characteristics of the CHD among infants born between 2010 and 2013 in Shaanxi province. METHODS: Infants born between 2010 and 2013 in Shaanxi province were surveyed using a stratified multi-stage sampling method...
January 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28060152/an-elevated-low-cardiac-output-syndrome-score-is-associated-with-morbidity-in-infants-after-congenital-heart-surgery
#11
Kalia P Ulate, Ofer Yanay, Howard Jeffries, Harris Baden, Jane L Di Gennaro, Jerry Zimmerman
OBJECTIVES: To evaluate an empirically derived Low Cardiac Output Syndrome Score as a clinical assessment tool for the presence and severity of Low Cardiac Output Syndrome and to examine its association with clinical outcomes in infants who underwent surgical repair or palliation of congenital heart defects. DESIGN: Prospective observational cohort study. SETTING: Cardiac ICU at Seattle Children's Hospital. PATIENTS: Infants undergoing surgical repair or palliation of congenital heart defects...
January 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28033081/clinical-databases-and-registries-in-congenital-and-pediatric-cardiac-surgery-cardiology-critical-care-and-anesthesiology-worldwide
#12
David F Vener, Michael Gaies, Jeffrey P Jacobs, Sara K Pasquali
The growth in large-scale data management capabilities and the successful care of patients with congenital heart defects have coincidentally paralleled each other for the last three decades, and participation in multicenter congenital heart disease databases and registries is now a fundamental component of cardiac care. This manuscript attempts for the first time to consolidate in one location all of the relevant databases worldwide, including target populations, specialties, Web sites, and participation information...
January 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#13
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27999267/zebrafish-as-a-vertebrate-model-system-to-evaluate-effects-of-environmental-toxicants-on-cardiac-development-and-function
#14
REVIEW
Swapnalee Sarmah, James A Marrs
Environmental pollution is a serious problem of the modern world that possesses a major threat to public health. Exposure to environmental pollutants during embryonic development is particularly risky. Although many pollutants have been verified as potential toxicants, there are new chemicals in the environment that need assessment. Heart development is an extremely sensitive process, which can be affected by environmentally toxic molecule exposure during embryonic development. Congenital heart defects are the most common life-threatening global health problems, and the etiology is mostly unknown...
December 16, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27992621/survivorship-in-children-and-young-adults-with-congenital-heart-disease-in-sweden
#15
Zacharias Mandalenakis, Annika Rosengren, Kristofer Skoglund, Georgios Lappas, Peter Eriksson, Mikael Dellborg
Importance: Mortality in patients with congenital heart disease (CHD) has markedly decreased during recent decades because of advancement in pediatric care. However, there are limited data on survival trends in children and young adults with CHD compared with the general population. Objective: To determine survivorship in children and young adults with CHD compared with matched controls. Design, Setting, and Participants: A registry-based, prospective, matched-cohort study was conducted in Sweden...
February 1, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#16
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27989580/the-promises-and-challenges-of-exome-sequencing-in-familial-non-syndromic-congenital-heart-disease
#17
Gillian M Blue, David Humphreys, Justin Szot, Joelene Major, Gavin Chapman, Alexis Bosman, Edwin P Kirk, Gary F Sholler, Richard P Harvey, Sally L Dunwoodie, David S Winlaw
BACKGROUND: Exome sequencing is an established strategy to identify causal variants in families with two or more members affected by congenital heart disease (CHD). This unbiased approach, in which both rare and common variants are identified, makes it suitable to research complex, heterogeneous diseases such as CHD. METHODS AND RESULTS: Exome sequencing was performed on two affected members of a three generation family with atrial septal defects (ASD), suggesting a dominant inheritance pattern...
March 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27986699/ethnic-and-socioeconomic-variation-in-incidence-of-congenital-heart-defects
#18
Rachel L Knowles, Deborah Ridout, Sonya Crowe, Catherine Bull, Jo Wray, Jenifer Tregay, Rodney C Franklin, David J Barron, David Cunningham, Roger C Parslow, Katherine L Brown
INTRODUCTION: Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking. We investigated ethnic variations in incidence of serious CHDs requiring cardiac intervention before 1 year of age. METHODS: All infants who had a cardiac intervention in England and Wales between 1 January 2005 and 31 December 2010 were identified in the national congenital heart disease surgical audit and matched with paediatric intensive care admission records to create linked individual child records...
December 16, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27936920/management-of-children-with-congenital-heart-defect-state-of-the-art-and-future-prospects
#19
Marie-Christine Seghaye
The treatment of children with congenital heart defects has evolved in the last 60 years from conservative care to a highly specialized management where advances in imaging, surgical, interventional and support techniques meet together to ensure satisfactory development and good quality of life to the child and to the upcoming grown up. Management of congenital heart defects best begins before birth with the aim, whenever possible, to maintain or establish biventricular physiology or, if this is excluded, to optimize the conditions for univentricular physiology...
January 2017: Future Cardiology
https://www.readbyqxmd.com/read/27894567/proportion-of-selected-congenital-heart-defects-attributable-to-recognized-risk-factors
#20
Regina M Simeone, Sarah C Tinker, Suzanne M Gilboa, A J Agopian, Matthew E Oster, Owen J Devine, Margaret A Honein
PURPOSE: To assess the contribution of multiple risk factors for two congenital heart defects-hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). METHODS: We used data from the National Birth Defects Prevention Study (1997-2011) to estimate average adjusted population attributable fractions for several recognized risk factors, including maternal prepregnancy overweight-obesity, pregestational diabetes, age, and infant sex. RESULTS: There were 594 cases of isolated simple HLHS, 971 cases of isolated simple TOF, and 11,829 controls in the analysis...
December 2016: Annals of Epidemiology
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