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coding for congenital heart disease

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https://www.readbyqxmd.com/read/28604574/use-of-extracorporeal-membrane-oxygenation-and-mortality-in-pediatric-cardiac-surgery-patients-with-genetic-conditions-a-multicenter-analysis
#1
Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton
OBJECTIVE: Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater. DESIGN: Retrospective cohort study. SETTING: Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014...
June 9, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28602537/atrial-septal-defect-increases-the-risk-for-stroke-after-total-hip-arthroplasty
#2
Dean C Perfetti, Morad Chughtai, Matthew R Boylan, Qais Naziri, Aditya V Maheshwari, Michael A Mont
BACKGROUND: Atrial septal defect (ASD) and patent foramen ovale (PFO) are 2 of the most common congenital heart diseases in adults and pose important risks of perioperative acute ischemic stroke (AIS) from paradoxical emboli. We evaluated the following: (1) the prevalence of ASD/PFO in the total hip arthroplasty (THA) population; (2) the rate of perioperative AIS during index admissions; and (3) the risk for perioperative AIS after THA for patients with ASD/PFO vs matched controls. METHODS: We identified 393,652 patients in the Nationwide Inpatient Sample who underwent THA between January 1, 2007, and December 31, 2013...
May 11, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28583401/mir-873-suppresses-h9c2-cardiomyocyte-proliferation-by-targeting-gli1
#3
REVIEW
Jing-Shu Zhang, Yue Zhao, Yuan Lv, Pei-Yan Liu, Jun-Xia Ruan, Yue-Ling Sun, Tian-Xing Gong, Nan Wan, Guang-Rong Qiu
MicroRNAs (miRNAs) are a class of endogenous, non-coding small RNAs that regulate the expression of target genes. Previous studies have suggested that miRNAs are key regulators in cardiovascular systems. This study investigated the role of miR-873 in H9C2 cardiomyocytes by targeting glioma-associated oncogene 1 (GLI1). miR-873 was significantly up-regulated in serum samples from congenital heart disease (CHD) patients compared with those from normal individuals. Furthermore, miR-873 over-expression suppressed H9C2 proliferation and induced cell cycle arrest...
June 2, 2017: Gene
https://www.readbyqxmd.com/read/28578168/neonatal-outcomes-in-fetuses-with-cardiac-anomalies-and-the-impact-of-delivery-route
#4
Laura I Parikh, Katherine L Grantz, Sara N Iqbal, Chun-Chih Huang, Helain J Landy, Melissa H Fries, Uma M Reddy
BACKGROUND: Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. OBJECTIVE: We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity...
May 31, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28553164/tbx20-loss-of-function-mutation-responsible-for-familial-tetralogy-of-fallot-or-sporadic-persistent-truncus-arteriosus
#5
Ri-Tai Huang, Juan Wang, Song Xue, Xing-Biao Qiu, Hong-Yu Shi, Ruo-Gu Li, Xin-Kai Qu, Xiao-Xiao Yang, Hua Liu, Ning Li, Yan-Jie Li, Ying-Jia Xu, Yi-Qing Yang
Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD. Nevertheless, CHD is of substantial genetic heterogeneity and the genetic defects underlying CHD in most cases remain unclear. In the current study, the coding regions and splicing junction sites of the TBX20 gene, which encodes a T-box transcription factor key to cardiovascular morphogenesis, were sequenced in 175 unrelated patients with CHD, and a novel heterozygous TBX20 mutation, p...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/28533037/epidemiology-of-live-born-infants-with-nonimmune-hydrops-fetalis-insights-from-a-population-based-dataset
#6
Martina A Steurer, Shabnam Peyvandi, Rebecca J Baer, Tippi MacKenzie, Ben C Li, Mary E Norton, Laura L Jelliffe-Pawlowski, Anita J Moon-Grady
OBJECTIVE: To evaluate the incidence, etiology, and 1-year mortality of nonimmune hydrops fetalis (NIHF) and to identify risk factors for mortality in a contemporary population-based dataset. STUDY DESIGN: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharge, readmissions, and birth and death certificate date from 1 year before to 1 year after birth. We searched the database (2005-2012) for infants with NIHF (identified by the International Classification of Diseases, 9th Revision, Clinical Modification code)...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28457736/cost-of-congenital-heart-disease-hospitalizations-in-canada-a-population-based-study
#7
Andrew S Mackie, Dat T Tran, Ariane J Marelli, Padma Kaul
BACKGROUND: The prevalence of congenital heart disease (CHD) is rising, and late complications are common. The impact of these factors on health-care costs is not well understood. We sought to describe inpatient CHD costs in Canada. METHODS: We conducted an observational retrospective cohort study. The Canadian Institute for Health Information (CIHI) Discharge Abstract Database was used for all Canadian provinces, except Quebec, between April 2004 and March 2014...
February 10, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28403428/maternal-and-fetal-outcomes-of-admission-for-delivery-in-women-with-congenital-heart-disease
#8
Robert M Hayward, Elyse Foster, Zian H Tseng
Background: Women with congenital heart disease (CHD) may be at increased risk for adverse events during pregnancy and delivery. Objective: To compare delivery outcomes between women with and without CHD. Design, Setting, and Participants: This retrospective study of inpatient delivery admissions in the Healthcare Cost and Utilization Project's California State Inpatient Database compared maternal and fetal outcomes between women with and without CHD by using multivariate logistic regression...
June 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#9
Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28383382/maternal-cardiovascular-mortality-in-illinois-2002-2011
#10
Joan Briller, Abigail R Koch, Stacie E Geller
OBJECTIVE: To describe the demographic characteristics of women in Illinois who died from cardiovascular disease during pregnancy or up until 1 year postpartum, addressing specific etiologies, timing of death, proportion of potentially preventable mortality, and factors associated with preventability. METHODS: This is a retrospective analysis from the Illinois Department of Public Health Maternal Mortality Review process using International Classification of Diseases, 9th Revision codes that attributed cardiovascular disease as the immediate or underlying cause of maternal death in Illinois from 2002 to 2011...
May 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28279500/how-often-is-congenital-heart-disease-recognized-as-a-significant-comorbidity-among-hospitalized-adults-with-congenital-heart-disease
#11
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/28270245/paediatric-cardiac-catheterisation-in-norway-rates-and-types-of-complications-in-new-terms
#12
Maren E A Ravndal, Anders H Christensen, Gaute Døhlen, Henrik Holmstrøm
We determined the incidence, type, and severity of complications after cardiac catheterisation in children with heart disease in Norway, and we present the results in terms of the International Paediatric and Congenital Cardiac Code (IPCCC) nomenclature for complications. All paediatric cardiac catheterisations in Norway are performed in one clinical centre. All procedures performed during a 5-year period beginning in 2010 were prospectively registered, and medical records for cases with complications were reviewed to confirm the event and to re-classify the type, severity, and attributability of the complication according to the IPCCC nomenclature...
March 8, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28246128/a-comprehensive-talen-based-knockout-library-for-generating-human-induced-pluripotent-stem-cell-based-models-for-cardiovascular-diseases
#13
REVIEW
Ioannis Karakikes, Vittavat Termglinchan, Diana A Cepeda, Jaecheol Lee, Sebastian Diecke, Ayal Hendel, Ilanit Itzhaki, Mohamed Ameen, Rajani Shrestha, Haodi Wu, Ning Ma, Ning-Yi Shao, Timon Seeger, Nicole Woo, Kitchener D Wilson, Elena Matsa, Matthew H Porteus, Vittorio Sebastiano, Joseph C Wu
RATIONALE: Targeted genetic engineering using programmable nucleases such as transcription activator-like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome. OBJECTIVE: The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro. METHODS AND RESULTS: By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout 88 human genes that are associated with cardiomyopathies and congenital heart diseases...
May 12, 2017: Circulation Research
https://www.readbyqxmd.com/read/28242012/national-in-hospital-outcomes-of-pregnancy-in-women-with-single-ventricle-congenital-heart-disease
#14
R Thomas Collins, Di Chang, Adam Sandlin, Anthony Goudie, James M Robbins
Most patients with single ventricle (SV) congenital heart disease are expected to survive to adulthood. Women with SV are often counseled against pregnancy; however, data on pregnancies in these women are lacking. We sought to evaluate in-hospital outcomes of pregnancy in women with SV. We used nationally representative data from the 1998 to 2012 National Inpatient Sample to identify women ≥18 years of age admitted to the hospital with International Classification of Diseases-9th Revision codes for an intrauterine pregnancy and a diagnosis of hypoplastic left heart syndrome, tricuspid atresia, or common ventricle...
April 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#15
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28161810/mutation-screening-of-gata4-gene-in-ctd-patients-within-chinese-han-population
#16
Yang Liu, Bojian Li, Yuejuan Xu, Kun Sun
Conotruncal heart defect is a complex form of congenital heart disease and usually has a poor prognosis. Although previous studies have identified several missense variants in GATA4 gene that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study population was limited. The aim of the study was to investigate the mutations of GATA4 gene in isolated CTD Chinese Han patients and identify the pathomechanism of the missense mutations. In this report, the coding exons and exon-intron boundaries of the GATA4 gene were sequenced in 600 CTD patients and 300 controls...
March 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28123459/role-of-micrornas-in-cardiac-development-and-disease
#17
Jing Tian, Xinjiang An, Ling Niu
Heart disease-related deaths are the highest in most societies and congenital heart diseases account for approximately 40% of prenatal deaths and over 20% of mortality in the first few months after birth. Congenital heart disease affects approximately 1% of all newborns and is the causative factor for more deaths within the first year of life as compared to all other genetic defects. Advances in treatment approaches increased life expectancy and led to an expansion of adult population with clinical manifestation of congenital heart defects in up to 90% of the children born with congenital heart diseases...
January 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27992675/readmissions-after-adult-congenital-heart-surgery-frequency-and-risk-factors
#18
Yuli Y Kim, Wei He, Thomas E MacGillivray, Oscar J Benavidez
OBJECTIVE: Despite their clinical importance, 30-day readmission after adult congenital heart surgery has been understudied. They sought to determine the frequency of unplanned readmissions after adult congenital heart surgery and to identify any potential associated risk factors. DESIGN: Retrospective cohort study using State Inpatient Databases for Washington, New York, Florida, and California from 2009 to 2011. SETTING: Federal and nonfederal acute care hospitals...
December 19, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27942761/hand1-loss-of-function-mutation-causes-tetralogy-of-fallot
#19
Juan Wang, Xiao-Qing Hu, Yu-Han Guo, Jian-Yun Gu, Jia-Hong Xu, Yan-Jie Li, Ning Li, Xiao-Xiao Yang, Yi-Qing Yang
As the most prevalent form of birth defect in humans worldwide, congenital heart disease (CHD) is responsible for substantial morbidity and is still the leading cause of birth defect-related demises. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD, and mutations in multiple genes, especially in those coding for cardiac core transcription factors, have been causally linked to various CHDs. Nevertheless, CHD is a genetically heterogeneous disease and the genetic determinants underpinning CHD in an overwhelming majority of patients remain elusive...
March 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/27940508/persistent-pulmonary-hypertension-of-the-newborn-in-late-preterm-and-term-infants-in-california
#20
Martina A Steurer, Laura L Jelliffe-Pawlowski, Rebecca J Baer, J Colin Partridge, Elizabeth E Rogers, Roberta L Keller
BACKGROUND AND OBJECTIVES: There are limited epidemiologic data on persistent pulmonary hypertension of the newborn (PPHN). We sought to describe the incidence and 1-year mortality of PPHN by its underlying cause, and to identify risk factors for PPHN in a contemporary population-based dataset. METHODS: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharges, readmissions, and birth and death certificates from 1 year before to 1 year after birth...
January 2017: Pediatrics
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