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coding for congenital heart disease

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https://www.readbyqxmd.com/read/28161810/mutation-screening-of-gata4-gene-in-ctd-patients-within-chinese-han-population
#1
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...
February 4, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28123459/role-of-micrornas-in-cardiac-development-and-disease
#2
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
#3
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
#4
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...
December 10, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27940508/persistent-pulmonary-hypertension-of-the-newborn-in-late-preterm-and-term-infants-in-california
#5
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
#6
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
#7
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
#8
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)...
November 1, 2016: 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27625407/predictors-of-rehospitalization-among-adults-with-congenital-heart-disease-are-lesion-specific
#13
Ari M Cedars, Sara Burns, Eric L Novak, Amit P Amin
BACKGROUND: Readmission is responsible for a large proportion of inpatient care costs in adult congenital heart disease. There are, however, few data available to identify at-risk patients or to suggest strategies for intervention to prevent rehospitalization. METHODS AND RESULTS: We conducted an analysis of admissions in patients over the age of 18 years with a 3-digit International Classification of Diseases-Ninth Revision code of 745 to 747 from the State Inpatient Databases of Arkansas (2008-2010), California (2003-2012), Florida (2005-2012), Hawaii (2006-2010), Nebraska (2003-2011), and New York (2005-2012)...
September 2016: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/27557446/an-integrative-transcriptomic-atlas-of-organogenesis-in-human-embryos
#14
Dave T Gerrard, Andrew A Berry, Rachel E Jennings, Karen Piper Hanley, Nicoletta Bobola, Neil A Hanley
Human organogenesis is when severe developmental abnormalities commonly originate. However, understanding this critical embryonic phase has relied upon inference from patient phenotypes and assumptions from in vitro stem cell models and non-human vertebrates. We report an integrated transcriptomic atlas of human organogenesis. By lineage-guided principal components analysis, we uncover novel relatedness of particular developmental genes across different organs and tissues and identified unique transcriptional codes which correctly predicted the cause of many congenital disorders...
August 24, 2016: ELife
https://www.readbyqxmd.com/read/27510170/a-novel-tbx20-loss%C3%A2-of%C3%A2-function-mutation-contributes-to-adult%C3%A2-onset-dilated-cardiomyopathy-or-congenital-atrial-septal-defect
#15
Yi-Meng Zhou, Xiao-Yong Dai, Ri-Tai Huang, Song Xue, Ying-Jia Xu, Xing-Biao Qiu, Yi-Qing Yang
Dilated cardiomyopathy (DCM) is the most prevalent form of primary cardiomyopathy in humans and is a leading cause of heart failure and sudden cardiac death. Genetic abnormalities have been demonstrated to be a major contributor to the development of DCM. However, DCM is a genetically heterogeneous disease, and the genetic basis underlying DCM in a significant proportion of patients remains unclear. In the current study, the coding exons and splicing junction sites of the T‑Box 20 (TBX20) gene, which encodes a T‑box transcription factor essential for cardiac morphogenesis and structural remodeling, were sequenced in 115 unrelated patients with idiopathic DCM, and a novel heterozygous mutation, p...
October 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27476099/health-care-costs-for-adults-with-congenital-heart-disease-in-the-united-states-2002-to-2012
#16
David A Briston, Elisa A Bradley, Aarthi Sabanayagam, Ali N Zaidi
More adults than children with congenital heart disease (CHD) are alive today. Few studies have evaluated adult congenital heart disease (ACHD) health care utilization in the United States. Data from the National Inpatient Sample from 2002 to 2012, using International Classification of Diseases, Ninth Revision, codes for moderate and complex CHD were analyzed. Hospital discharges, total billed and reimbursed amounts, length of stay, and gender/age disparities were evaluated. There was an increase in CHD discharges (moderate CHD: 4,742 vs 6,545; severe CHD: 807 vs 1,115) and total billed and reimbursed dollar amounts across all CHD (billed: $2...
August 15, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27470457/late-causes-of-death-after-pediatric%C3%A2-cardiac-surgery-a-60-year-population-based-study
#17
Alireza Raissadati, Heta Nieminen, Jari Haukka, Heikki Sairanen, Eero Jokinen
BACKGROUND: Comprehensive information regarding causes of late post-operative death following pediatric congenital cardiac surgery is lacking. OBJECTIVES: The study sought to analyze late causes of death after congenital cardiac surgery by era and defect severity. METHODS: We obtained data from a nationwide pediatric cardiac surgery database and Finnish population registry regarding patients who underwent cardiac surgery at <15 years of age at 1 of 5 universities or 1 district hospital in Finland from 1953 to 2009...
August 2, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27469029/mir-30c-regulates-proliferation-apoptosis-and-differentiation-via-the-shh-signaling-pathway-in-p19-cells
#18
Xuehua Liu, Mengmeng Li, Yuzhu Peng, Xiaoshan Hu, Jing Xu, Shasha Zhu, Zhangbin Yu, Shuping Han
MicroRNAs (miRNAs) are small, non-coding single-stranded RNAs that suppress protein expression by binding to the 3' untranslated regions of their target genes. Many studies have shown that miRNAs have important roles in congenital heart diseases (CHDs) by regulating gene expression and signaling pathways. We previously found that miR-30c was highly expressed in the heart tissues of aborted embryos with ventricular septal defects. Therefore, this study aimed to explore the effects of miR-30c in CHDs. miR-30c was overexpressed or knocked down in P19 cells, a myocardial cell model that is widely used to study cardiogenesis...
2016: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/27453376/school-age-test-proficiency-and-special-education-after-congenital-heart-disease-surgery-in-infancy
#19
Sarah B Mulkey, Shasha Bai, Chunqiao Luo, Jordyn E Cleavenger, Neal Gibson, Greg Holland, Bridget S Mosley, Jeffrey R Kaiser, Adnan T Bhutta
OBJECTIVE: To evaluate test proficiency and the receipt of special education services in school-age children who had undergone surgery for congenital heart disease (CHD) at age <1 year. STUDY DESIGN: Data from Arkansas-born children who underwent surgery for CHD at Arkansas Children's Hospital at age <1 year between 1996 and 2004 were linked to state birth certificates and the Arkansas Department of Education longitudinal database containing achievement test scores in literacy and mathematics for grades 3-4 and special education codes...
November 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27445504/positive-predictive-value-of-diagnosis-coding-for-hemolytic-anemias-in-the-danish-national-patient-register
#20
Dennis Lund Hansen, Ulrik Malthe Overgaard, Lars Pedersen, Henrik Frederiksen
PURPOSE: The nationwide public health registers in Denmark provide a unique opportunity for evaluation of disease-associated morbidity if the positive predictive values (PPVs) of the primary diagnosis are known. The aim of this study was to evaluate the predictive values of hemolytic anemias registered in the Danish National Patient Register. PATIENTS AND METHODS: All patients with a first-ever diagnosis of hemolytic anemia from either specialist outpatient clinic contact or inpatient admission at Odense University Hospital from January 1994 through December 2011 were considered for inclusion...
2016: Clinical Epidemiology
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