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https://www.readbyqxmd.com/read/28403428/maternal-and-fetal-outcomes-of-admission-for-delivery-in-women-with-congenital-heart-disease
#1
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...
April 12, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#2
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...
April 3, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28383382/maternal-cardiovascular-mortality-in-illinois-2002-2011
#3
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
#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/28270245/paediatric-cardiac-catheterisation-in-norway-rates-and-types-of-complications-in-new-terms
#5
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
#6
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 A 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 (KO) eighty-eight human genes that are associated with cardiomyopathies and congenital heart diseases...
February 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28242012/national-in-hospital-outcomes-of-pregnancy-in-women-with-single-ventricle-congenital-heart-disease
#7
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
#8
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...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28161810/mutation-screening-of-gata4-gene-in-ctd-patients-within-chinese-han-population
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27938597/-diagnosis-of-a-case-with-williams-beuren-syndrome-with-nephrocalcinosis-using-chromosome-microarray-analysis
#14
S J Jin, M Liu, W J Long, X P Luo
Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27891781/geographic-distribution-of-live-births-with-tetralogy-of-fallot-in-north-carolina-2003-to-2012
#15
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/27801982/risk-factors-for-pulmonary-arterial-hypertension-in-children-and-young-adults
#16
Estelle Naumburg, Lars Söderström, Daniel Huber, Inge Axelsson
OBJECTIVES: Pulmonary hypertension (PH) has been linked to preterm birth explained by congenital heart defects and pulmonary diseases. WORKING HYPOTHESIS: Other factors may influence the risk of PH among adolescences and children born premature. STUDY DESIGN: This national registry-based study assess risk of PH following premature birth adjusted for known risk factors. PATIENT-SUBJECT SELECTION AND METHODOLOGY: All cases born 1993-2010, identified by diagnostic codes applicable to PH and retrieved from the Swedish Registry of Congenital Heart Disease (N = 67)...
May 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27756857/genetic-analysis-of-rare-coding-mutations-in-celsr1-3-in-chinese-congenital-heart-and-neural-tube-defects
#17
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27713900/the-burden-of-care-mothers-experiences-of-children-with-congenital-heart-disease
#18
Sakinne Sabzevari, Monirsadat Nematollahi, Tayebeh Mirzaei, Ali Ravari
BACKGROUND: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. METHODS: A conventional content analysis was used to obtain rich data...
2016: International Journal of Community Based Nursing and Midwifery
https://www.readbyqxmd.com/read/27693370/casz1-loss-of-function-mutation-associated-with-congenital-heart-disease
#19
Ri-Tai Huang, Song Xue, Juan Wang, Jian-Yun Gu, Jia-Hong Xu, Yan-Jie Li, Ning Li, Xiao-Xiao Yang, Hua Liu, Xiao-Dong Zhang, Xin-Kai Qu, Ying-Jia Xu, Xing-Biao Qiu, Ruo-Gu Li, Yi-Qing Yang
As the most common form of birth defect in humans, congenital heart disease (CHD) is associated with substantial morbidity and mortality in both children and adults. Increasing evidence demonstrates that genetic defects play a pivotal role in the pathogenesis of CHD. However, CHD is of great heterogeneity, and in an overwhelming majority of cases, the genetic determinants underpinning CHD remain elusive. In the present investigation, the coding exons and flanking introns of the CASZ1 gene, which codes for a zinc finger transcription factor essential for the cardiovascular morphogenesis, were sequenced in 172 unrelated patients with CHD...
December 20, 2016: Gene
https://www.readbyqxmd.com/read/27632192/kincor-a%C3%A2-national-registry-for-paediatric-patients-with-congenital-and-other-types-of-heart-disease-in-the-netherlands-aims-design-and-interim-results
#20
L M Silva, I M Kuipers, F van den Heuvel, R Mendes, R M F Berger, I M van Beynum, L Rozendaal, L A J Rammeloo, G G van Iperen, M Schokking, S Frerich, N A Blom, J M P J Breur, W A Helbing
OBJECTIVE: Studies in children with heart disease have been hampered by a lack of easily identifiable patient groups. Currently, there are few prospective population-based registries covering the entire spectrum of heart disease in children. KinCor is a Dutch national registry for children with heart diseases. This paper presents the aims, design and interim results of the KinCor project. METHODS: All children presenting at a Dutch university medical centre with a diagnosis of heart disease from 2012 onwards were eligible for registration in the KinCor database...
November 2016: Netherlands Heart Journal
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