keyword
MENU ▼
Read by QxMD icon Read
search

Congenital heart defect research

keyword
https://www.readbyqxmd.com/read/28096041/advance-care-planning-in-adults-with-congenital-heart-disease-a-patient-priority
#1
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...
January 4, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
December 19, 2016: JAMA Internal Medicine
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#8
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
#9
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...
December 13, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27986699/ethnic-and-socioeconomic-variation-in-incidence-of-congenital-heart-defects
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27891781/geographic-distribution-of-live-births-with-tetralogy-of-fallot-in-north-carolina-2003-to-2012
#13
Jennifer S Nelson, Rebecca C Stebbins, Paula D Strassle, Robert E Meyer
BACKGROUND: Geographic variation in congenital heart disease is not well-described. This study uses geographic information systems (GIS) to describe the spatial epidemiology of tetralogy of Fallot (TOF), in North Carolina (NC) and to compare travel time for cases to congenital heart centers in NC. METHODS: Using the NC Birth Defects Monitoring Program database, live births with TOF born between 2003 and 2012 were identified. Birth certificates provided demographic variables...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27803055/rebuilding-a-broken-heart-lessons-from-developmental-and-regenerative-biology
#14
REVIEW
Muge N Kuyumcu-Martinez, Michael C Bressan
In May 2016, the annual Weinstein Cardiovascular Development and Regeneration Conference was held in Durham, North Carolina, USA. The meeting assembled leading investigators, junior scientists and trainees from around the world to discuss developmental and regenerative biological approaches to understanding the etiology of congenital heart defects and the repair of diseased cardiac tissue. In this Meeting Review, we present several of the major themes that were discussed throughout the meeting and highlight the depth and range of research currently being performed to uncover the causes of human cardiac diseases and develop potential therapies...
November 1, 2016: Development
https://www.readbyqxmd.com/read/27801971/twenty-five-year-survival-for-aboriginal-and-caucasian-children-with-congenital-heart-defects-in-western-australia-1980-to-2010
#15
Wendy N Nembhard, Jenny Bourke, Helen Leonard, Luke Eckersley, Jingyun Li, Carol Bower
BACKGROUND: Australian Aboriginal children have increased infant and childhood mortality compared with Caucasian children, but their mortality related to congenital heart defects (CHDs) throughout life is unknown. METHODS: We conducted a retrospective cohort study using data on 8,110 live born, singleton infants with CHDs born January 1980 to December 2010 from the Western Australian Register of Developmental Anomalies. Vital status was determined from death and medical records...
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27783864/modulation-of-systemic-metabolism-by-mmp-2-from-mmp-2-deficiency-in-mice-to-mmp-2-deficiency-in-patients
#16
Carlos Fernandez-Patron, Zamaneh Kassiri, Dickson Leung
Matrix metalloproteinase-2 (MMP-2) is a 72-kDa zinc- and calcium-dependent endopeptidase with intracellular and extracellular functions ranging from the modulation of extracellular matrix remodeling to cell growth and migration, angiogenesis, inflammation, and metabolism. An upregulation of MMP-2 activity has the potential to deregulate lipid metabolism through the cleavage of numerous metabolic mediators including plasma lipoproteins and cell surface receptors of lipoproteins. Paradoxically, MMP-2 deficiency induces inflammation and deregulates metabolism...
September 15, 2016: Comprehensive Physiology
https://www.readbyqxmd.com/read/27768247/associations-between-maternal-water-consumption-and-birth-defects-in-the-national-birth-defects-prevention-study-2000-2005
#17
Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27718306/common-congenital-anomalies-environmental-causes-and-prevention-with-folic-acid-containing-multivitamins
#18
REVIEW
Swapnalee Sarmah, Pooja Muralidharan, James A Marrs
Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially...
September 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/27717505/emerging-field-of-cardiomics-high-throughput-investigations-into-transcriptional-regulation-of-cardiovascular-development-and-disease
#19
Christopher E Slagle, Frank L Conlon
Congenital heart defects remain a leading cause of infant mortality in the western world, despite decades of research focusing on cardiovascular development and disease. With the recent emergence of several high-throughput technologies including RNA sequencing, chromatin-immunoprecipitation-coupled sequencing, mass-spectrometry-based proteomics analyses, and the numerous variations of these strategies, investigations into cardiac development have been transformed from candidate-based studies into whole-genome, -transcriptome, and -proteome undertakings...
November 2016: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/27704687/diprosopus-systematic-review-and-report-of-two-cases
#20
María Paz Bidondo, Boris Groisman, Agostina Tardivo, Fabián Tomasoni, Verónica Tejeiro, Inés Camacho, Mariana Vilas, Rosa Liascovich, Pablo Barbero
BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29)...
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
keyword
keyword
55600
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"