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coding for congenital heart disease

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https://www.readbyqxmd.com/read/29330259/limited-accuracy-of-administrative-data-for-the-identification-and-classification-of-adult-congenital-heart-disease
#1
Abigail Khan, Katrina Ramsey, Cody Ballard, Emily Armstrong, Luke J Burchill, Victor Menashe, George Pantely, Craig S Broberg
BACKGROUND: Administrative data sets utilize billing codes for research and quality assessment. Previous data suggest that such codes can accurately identify adults with congenital heart disease (CHD) in the cardiology clinic, but their use has yet to be validated in a larger population. METHODS AND RESULTS: All administrative codes from an entire health system were queried for a single year. Adults with a CHD diagnosis code (International Classification of Diseases, Ninth Revision, (ICD-9) codes 745-747) defined the cohort...
January 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29305714/diagnoses-of-cardiovascular-disease-or-substance-addiction-abuse-in-us-adults-treated-for-adhd-with-stimulants-or-atomoxetine-is-use-consistent-with-product-labeling
#2
Kathleen A Fairman, Lindsay E Davis, Alyssa M Peckham, David A Sclar
BACKGROUND: Among US adults, utilization of pharmacotherapy for attention-deficit hyperactivity disorder (ADHD) has increased more than ninefold since 1995-1996. Potential contraindications to ADHD pharmacotherapy include serious cardiovascular disease (CVD) and, for stimulants, addictions and bipolar disorder (BPD). OBJECTIVE: To assess the prevalence of potential contraindications among adults treated with ADHD pharmacotherapy. METHODS: A retrospective cohort analysis was performed using the Truven Health MarketScan® database...
January 5, 2018: Drugs—Real World Outcomes
https://www.readbyqxmd.com/read/29286277/nomenclature-for-congenital-and-paediatric-cardiac-disease-the-international-paediatric-and-congenital-cardiac-code-ipccc-and-the-eleventh-iteration-of-the-international-classification-of-diseases-icd-11
#3
Rodney C G Franklin, Marie J Béland, Steven D Colan, Henry L Walters, Vera D Aiello, Robert H Anderson, Frédérique Bailliard, Jeffrey R Boris, Meryl S Cohen, J William Gaynor, Kristine J Guleserian, Lucile Houyel, Marshall L Jacobs, Amy L Juraszek, Otto N Krogmann, Hiromi Kurosawa, Leo Lopez, Bohdan J Maruszewski, James D St Louis, Stephen P Seslar, Shubhika Srivastava, Giovanni Stellin, Christo I Tchervenkov, Paul M Weinberg, Jeffrey P Jacobs
An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists"...
December 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29282804/in-vitro-modeling-of-congenital-heart-defects-associated-with-an-nkx2-5-mutation-revealed-a-dysregulation-in-bmp-notch-mediated-signaling
#4
Abeer F Zakariyah, Rashida F Rajgara, Ellias Horner, Marie-Elodie Cattin, Alexandre Blais, Ilona S Skerjanc, Patrick G Burgon
The Nkx2-5 gene codes for a transcription factor that plays a critical role in heart development. Heterozygous mutations in NKX2-5 in both human and mice result in congenital heart defects (CHDs). However, the molecular mechanisms by which these mutations cause the disease are still unknown. Recently, we have generated the heterozygous mouse model of the human CHDs associated mutation NKX2-5 R142C (Nkx2-5R141C/+ mouse ortholog of human NKX2-5 R142C variant) that developed septal and conduction defects. This study generated a heterozygous Nkx2-5 R141C mouse embryonic stem cell line (Nkx2-5R141C/+ mESCs) to model CHDs in vitro...
December 28, 2017: Stem Cells
https://www.readbyqxmd.com/read/29258675/the-number-of-refusals-for-donor-organ-quality-does-not-impact-heart-transplant-outcomes-in-children
#5
Raheel Rizwan, Farhan Zafar, Roosevelt Bryant, James S Tweddell, Angela Lorts, Clifford Chin, David L Morales
BACKGROUND: Waitlist mortality is more than 12% for pediatric heart transplantation, with strikingly high rates of organ refusal, many of which are due to donor quality. However, some centers use these organs despite refusals by other centers for donor quality. We hypothesize that the number of refusals for donor quality (RDQ) does not affect pediatric heart transplantation outcomes. METHODS: Pediatric heart transplants from 2000 to 2015 were identified using the United Network for Organ Sharing database and were matched against the potential transplant recipients dataset with donor refusal codes...
December 16, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29250159/tbx1-loss-of-function-mutation-contributes-to-congenital-conotruncal-defects
#6
Min Zhang, Fu-Xing Li, Xing-Yuan Liu, Jing-Yi Hou, Shi-Hong Ni, Juan Wang, Cui-Mei Zhao, Wei Zhang, Ye Kong, Ri-Tai Huang, Song Xue, Yi-Qing Yang
Conotruncal defects (CTDs) account for ~30% of all types of congenital heart disease and contribute to increased morbidity and mortality rates. Increasing evidence suggests that genetic risk factors are involved in the pathogenesis of CTDs. Mutations in a number of genes, including the TBX1 gene that codes for a T-box transcription factor essential for normal cardiovascular development, may contribute to the development of CTD. CTDs are genetically heterogeneous and the genetic defects responsible for CTDs in the majority of patients remain unknown...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29221691/characteristics-and-outcomes-of-pediatric-heart-failure-related-emergency-department-visits-in-the-united-states-a-population-based-study
#7
Erika J Mejia, Matthew J O'Connor, Kimberly Y Lin, Lihai Song, Heather Griffis, Christopher E Mascio, Pirouz Shamszad, Aaron Donoghue, Chitra Ravishankar, Robert E Shaddy, Joseph W Rossano
OBJECTIVES: To describe the frequency, characteristics, and outcomes of heart failure-related emergency department (ED) visits in pediatric patients. We aimed to test the hypothesis that these visits are associated with higher admission rates, mortality, and resource utilization. STUDY DESIGN: A retrospective analysis of the Nationwide Emergency Department Sample for 2010 of patients ≤18 years of age was performed to describe ED visits with and without heart failure...
December 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29209720/association-of-us-state-implementation-of-newborn-screening-policies-for-critical-congenital-heart-disease-with-early-infant-cardiac-deaths
#8
Rahi Abouk, Scott D Grosse, Elizabeth C Ailes, Matthew E Oster
Importance: In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. Objective: To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. Design, Setting, and Participants: Observational study with group-level analyses...
December 5, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29198537/healthcare-utilization-and-comorbidities-associated-with-anorectal-malformations-in-the-united-states
#9
Karlo Kovacic, Sravan R Matta, Katja Kovacic, Casey Calkins, Ke Yan, Manu R Sood
OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54...
November 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29191297/verification-of-heart-disease-implications-for-a-new-heart-transplantation-allocation-system
#10
Pejman Raeisi-Giglou, E Rene Rodriguez, Eugene H Blackstone, Carmela D Tan, Eileen M Hsich
OBJECTIVES: This study sought to determine the accuracy of the pre-transplantation clinical diagnosis of heart disease in the United Network for Organ Sharing (UNOS) database. BACKGROUND: Because survival on the heart transplantation waitlist depends on underlying heart disease, a new allocation system will include the type of heart disease. Accuracy of the pre-transplantation clinical diagnosis and the effect of misclassification are unknown. METHODS: We included all adults who received transplants at our center between January 2009 to December 2015...
December 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/29180463/trends-of-out-of-hospital-sudden-cardiac-death-among-children-and-young-adults
#11
MULTICENTER STUDY
Iqbal El-Assaad, Sadeer G Al-Kindi, Peter F Aziz
BACKGROUND AND OBJECTIVES: Previous estimates of sudden cardiac death in children and young adults vary significantly, and population-based studies in the United States are lacking. We sought to estimate the incidence, causes, and mortality trends of sudden cardiac death in children and young adults (1-34 years). METHODS: Demographic and mortality data based on death certificates for US residents (1-34 years) were obtained (1999-2015). Cases of sudden death and sudden cardiac death were retrieved by using the International Classification of Diseases, 10th Revision codes...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29138878/higher-cost-of-hospitalizations-for-non-cardiac-diagnoses-in-adults-with-congenital-heart-disease
#12
Michael D Seckeler, Ian D Thomas, Jennifer Andrews, Omar Meziab, Tabitha Moe, Elissa Heller, Scott E Klewer
Adults with congenital heart disease (CHD) are a rapidly increasing population and their impact on healthcare resources is not fully understood. The purpose of this study was to describe the costs of hospitalizations for non-cardiac disease for adults with CHD. We conducted a retrospective review of hospital discharge data from the University HealthSystem Consortium Clinical Data Base/Resource Manager from January 2011 through December 2013. Patients were ≥ 18 years old at admission with any ICD-9 code for moderate or high severity CHD; cardiac surgical admissions were excluded...
November 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29128868/association-of-lpa-variants-with-aortic-stenosis-a-large-scale-study-using-diagnostic-and-procedural-codes-from-electronic-health-records
#13
Hao Yu Chen, Line Dufresne, Hannah Burr, Athithan Ambikkumar, Niko Yasui, Kevin Luk, Dilrini K Ranatunga, Rachel A Whitmer, Mark Lathrop, James C Engert, George Thanassoulis
Importance: Elevated lipoprotein(a) levels are a risk factor for aortic stenosis (AS). However, a large-scale replication of associations between LPA variants and AS, their interactions with risk factors, and the effect of multiple risk alleles is not well established. Objective: To replicate the association between LPA variants with AS and identify subgroups who are at higher risk of developing AS. Design, Setting, and Participants: This case-control study of AS included 44 703 individuals (3469 cases) 55 years or older who were enrolled in the Genetic Epidemiology Research on Aging cohort and who were members of the Kaiser Permanente Northern California health care delivery system...
November 12, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#14
REVIEW
You Yu, Wei Lei, Junjie Yang, Yan-Chang Wei, Zhen-Ling Zhao, Zhen-Ao Zhao, Shijun Hu
Congenital heart diseases (CHDs) affect nearly 1% of all neonates and show an increasing tendency. The complex inheritance patterns and multifactorial etiologies make these defects difficult to be identified before complete manifestation. Genetic screening has identified hundreds of specific mutant sites for CHDs based on cardiac transcriptional factors. GATA4 is a master regulator required for ventral morphogenesis and heart tube formation. Its mutation is most widely studied in CHDs. In the past decades, over 100 GATA4 mutant sites have been reported, but only a few functional sites have been identified...
October 27, 2017: Gene
https://www.readbyqxmd.com/read/29104469/mef2c-loss-of-function-mutation-contributes-to-congenital-heart-defects
#15
Xiao-Hui Qiao, Fei Wang, Xian-Ling Zhang, Ri-Tai Huang, Song Xue, Juan Wang, Xing-Biao Qiu, Xing-Yuan Liu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronounced genetic heterogeneity, and the genetic basis underpinning CHD in a large proportion of patients remains unclear...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29040751/epidenovo-a-platform-for-linking-regulatory-de-novo-mutations-to-developmental-epigenetics-and-diseases
#16
Fengbiao Mao, Qi Liu, Xiaolu Zhao, Haonan Yang, Sen Guo, Luoyuan Xiao, Xianfeng Li, Huajing Teng, Zhongsheng Sun, Yali Dou
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most developmental diseases occur in the early stages of development or during childhood, it is crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28885171/gestational-age-and-outcomes-in-critical-congenital-heart-disease
#17
Martina A Steurer, Rebecca J Baer, Roberta L Keller, Scott Oltman, Christina D Chambers, Mary E Norton, Shabnam Peyvandi, Larry Rand, Satish Rajagopal, Kelli K Ryckman, Anita J Moon-Grady, Laura L Jelliffe-Pawlowski
BACKGROUND AND OBJECTIVES: It is unknown how gestational age (GA) impacts neonatal morbidities in infants with critical congenital heart disease (CCHD). We aim to quantify GA-specific mortality and neonatal morbidity in infants with CCHD. METHODS: Cohort study using a database linking birth certificate, infant hospital discharge, readmission, and death records, including infants 22 to 42 weeks' GA without chromosomal anomalies (2005-2012, 2 988 925 live births)...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28780716/epigenetics-a-potential-key-mechanism-involved-in-the-pathogenesis-of-cardiorenal-syndromes
#18
REVIEW
Grazia Maria Virzì, Anna Clementi, Alessandra Brocca, Massimo de Cal, Claudio Ronco
Epigenetics is defined as the heritable changes in gene expression patterns which are not directly encoded by modifications in the nucleotide DNA sequence of the genome, including higher order chromatin organization, DNA methylation, cytosine modifications, covalent histone tail modifications, and short non-coding RNA molecules. Recently, much attention has been paid to the role and the function of epigenetics and epimutations in the cellular and subcellular pathways and in the regulation of genes in the setting of both kidney and cardiovascular disease...
August 5, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28749226/care-of-preschoolers-with-congenital-heart-disease-by-kindergarten-and-nursery-teachers-in-japan
#19
Hisae Tabata
The purpose of this study was to elucidate the involvement of kindergarten and nursery school teachers with young children with congenital heart disease. The study was designed as a qualitative descriptive study. Interviews of kindergarten and nursery school teachers with experience in the care and education of young children with congenital heart disease were conducted, during which they described their experience. Verbatim transcripts of the interviews were prepared, and the content was categorized. The study participants were 11 kindergarten and nursery school teachers...
September 2017: Comprehensive Child and Adolescent Nursing
https://www.readbyqxmd.com/read/28736836/identification-of-adults-with-congenital-heart-disease-of-moderate-or-great-complexity-from-administrative-data
#20
Jill M Steiner, James N Kirkpatrick, Susan R Heckbert, Asma Habib, James Sibley, William Lober, J Randall Curtis
INTRODUCTION: There is relatively sparse literature on the use of administrative datasets for research in patients with adult congenital heart disease (ACHD). The goal of this analysis is to examine the accuracy of administrative data for identifying patients with ACHD who died. METHODS: A list of the International Classification of Diseases codes representing ACHD of moderate- or great-complexity was created. A search for these codes in the electronic health record of adults who received care in 2010-2016 was performed, and used state death records to identify patients who died during this period...
July 24, 2017: Congenital Heart Disease
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