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coding for congenital heart disease

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-)
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...
October 2016: International Journal of Community Based Nursing and Midwifery
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...
September 28, 2016: Gene
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
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
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...
2016: ELife
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
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
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
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
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...
July 22, 2016: Journal of Pediatrics
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
Sowmya Balasubramanian, Alaina K Kipps, Shea N Smith, Theresa A Tacy, Elif Seda Selamet Tierney
BACKGROUND: Present resource-based relative value unit (RVU) assignment for echocardiography is based on Current Procedural Terminology (CPT) codes, which do not incorporate complexity of diagnosis, time spent for image acquisition, or interpretation of echocardiograms. The objective of this study was to determine whether CPT-based RVU assignment accurately reflects physician effort in performing and interpreting pediatric echocardiographic examinations. METHODS: Cardiac complexity category (CCC) and physician time for study interpretation of 123 echocardiograms (June to September 2013) were prospectively assigned...
July 9, 2016: Journal of the American Society of Echocardiography
Xiaoqing Zhang, Jian Wang, Bo Wang, Sun Chen, Qihua Fu, Kun Sun
BACKGROUND: Congenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart development have been identified. GATA4 is a pivotal transcription factor that can regulate the cardiac development. Many GATA4 mutations have been identified in patients with different types of CHD. AIMS: In this study, the NKX2-5, HAND1 and GATA4 coding regions were sequenced in a family spanning three generations in which seven patients had CHD...
2016: PloS One
Brady S Moffett, Timothy J Humlicek, Joseph W Rossano, Jack F Price, Antonio G Cabrera
OBJECTIVE: To assess the frequency of inpatient 30-day readmission for heart failure in children with cardiomyopathy discharged after an admission for heart failure and the impact of discharge pharmacotherapy on readmissions. STUDY DESIGN: The Pediatric Health Information System Database was queried for patients ≤18 years of age with an International Classification of Diseases, Ninth Revision code for heart failure (428.xx) or cardiomyopathy (425.xx) discharged from 2004 to 2013...
October 2016: Journal of Pediatrics
Wan-Qin Xie, Lin Zhou, Yong Chen, Bin Ni
BACKGROUND: MicroRNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of microRNAs in congenital heart defects (CHD). DATA RESOURCES: This review retrieved the research articles in PubMed focusing on the altered microRNAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microRNAs as potential biomarkers for (fetal) CHD...
2016: World Journal of Emergency Medicine
Ju-Young Shin, Elizabeth E Roughead, Byung-Joo Park, Nicole L Pratt
OBJECTIVE:  To determine whether treatment with methylphenidate in children and young people with attention-deficit/hyperactivity disorder (ADHD) was associated with cardiovascular events. DESIGN:  Self controlled case series analysis. SETTING:  Nationwide health insurance database, 1 January 2008 to 31 December 2011, in South Korea. PARTICIPANTS:  1224 patients aged ≤17 who had experienced an incident cardiovascular event and had had at least one incident prescription for methylphenidate...
2016: BMJ: British Medical Journal
Kathy J Jenkins, Jennifer Koch Kupiec, Pamela L Owens, Patrick S Romano, Jeffrey J Geppert, Kimberlee Gauvreau
BACKGROUND: The National Quality Forum previously approved a quality indicator for mortality after congenital heart surgery developed by the Agency for Healthcare Research and Quality (AHRQ). Several parameters of the validated Risk Adjustment for Congenital Heart Surgery (RACHS-1) method were included, but others differed. As part of the National Quality Forum endorsement maintenance process, developers were asked to harmonize the 2 methodologies. METHODS AND RESULTS: Parameters that were identical between the 2 methods were retained...
May 2016: Journal of the American Heart Association
David N Rosenthal, Christopher S Almond, Robert D Jaquiss, Christine E Peyton, Scott R Auerbach, David R Morales, Deirdre J Epstein, Ryan S Cantor, Robert L Kormos, David C Naftel, Ryan J Butts, Nancy S Ghanayem, James K Kirklin, Elizabeth D Blume
BACKGROUND: Ventricular assist devices (VADs) have been used in children on an increasing basis in recent years. One-year survival rates are now >80% in multiple reports. In this report we describe adverse events experienced by children with durable ventricular assist devices, using a national-level registry (PediMACS, a component of INTERMACS) METHODS: PediMACS is a national registry that contains clinical data on patients who are <19 years of age at the time of VAD implantation...
May 2016: Journal of Heart and Lung Transplantation
Leonardo Liberman, Eric S Silver, Paul J Chai, Brett R Anderson
BACKGROUND: Advanced second- or third-degree heart block has been reported with variable incidence after surgery for congenital heart disease in children. We report the incidence of heart block requiring a pacemaker and describe the risk factors for this complication in a large multicenter study. METHODS: We performed a retrospective cohort study, using the Pediatric Health Information System database from 45 hospitals in the United States, for all children aged 18 years, discharged between January 1, 2004, and December 31, 2013, who underwent open surgery for congenital heart disease...
July 2016: Journal of Thoracic and Cardiovascular Surgery
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