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Adult congenital heart

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https://www.readbyqxmd.com/read/29452367/variant-in-human-pofut1-reduces-enzymatic-activity-and-likely-causes-a-recessive-microcephaly-global-developmental-delay-with-cardiac-and-vascular-features
#1
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
February 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29440825/comparison-of-skin-dose-measurement-using-nanodot-%C3%A2-dosimeter-and-machine-readings-of-radiation-dose-during-cardiac-catheterization-in-children
#2
Duraisamy Balaguru, Matthew Rodriguez, Stephanie Leon, Louis K Wagner, Charles W Beasley, Andrew Sultzer, Mohammed T Numan
Objectives: Direct measurement of skin dose of radiation for children using optically stimulated luminescence (OSL) technology using nanoDot ® (Landauer, Glenwood, IL, USA). Background: Radiation dose is estimated as cumulative air kerma (AK) and dosearea product based on standards established for adult size patients. Body size of pediatric patients who undergo cardiac catheterization for congenital heart disease vary widely from newborn to adolescence. Direct, skindose measurement applying OSL technology may eliminate errors in the estimate...
January 2018: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/29440224/competent-for-commitment-you-ve-got-to-have-heart
#3
REVIEW
Rajan Jain, Jonathan A Epstein
The mature heart is composed primarily of four different cell types: cardiac myocytes, endothelium, smooth muscle, and fibroblasts. These cell types derive from pluripotent progenitors that become progressively restricted with regard to lineage potential, giving rise to multipotent cardiac progenitor cells and, ultimately, the differentiated cell types of the heart. Recent studies have begun to shed light on the defining characteristics of the intermediary cell types that exist transiently during this developmental process and the extrinsic and cell-autonomous factors that influence cardiac lineage decisions and cellular competence...
January 1, 2018: Genes & Development
https://www.readbyqxmd.com/read/29440121/risk-of-dementia-in-adults-with-congenital-heart-disease-population-based-cohort-study
#4
Carina N Bagge, Victor W Henderson, Henning B Laursen, Kasper Adelborg, Morten Olsen, Nicolas L Madsen
Background -More children with congenital heart disease (CHD) are surviving to adulthood, and CHD is associated with risk factors for dementia. We compared the risk of dementia in CHD adults to that of the general population. Methods -In this cohort study, we used medical registries and a medical record review covering all Danish hospitals to identify adults with CHD diagnosed between 1963 and 2012. These individuals with CHD were followed from January 1, 1981, 30 years of age, or date of first CHD registration (index date for matched members of the general population cohort) until hospital diagnosis of dementia, death, emigration, or end of study (December 31, 2012)...
February 12, 2018: Circulation
https://www.readbyqxmd.com/read/29439889/hematuria-in-an-adult-with-congenital-heart-disease
#5
Jennifer Noble, Shahnawaz M Amdani, Richard U Garcia, Rajan Arora
BACKGROUND: Adults with congenital heart disease (CHD) in the United States now outnumber children with CHD, due in part to the improvement in surgical and medical management. This growing population may present postoperatively to the emergency department (ED) with nonspecific complaints from unforseen complications secondary to cardiac intervention. CASE REPORT: We describe a 39-year-old male who presented to the ED with hematuria and dysuria after he underwent percutaneous device ventricular septal defect (VSD) closure 10 days before...
February 10, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29437760/transvenous-lead-extraction-in-adults-with-congenital-heart-disease-insights-from-a-20-year-single-center-experience
#6
Jean-Baptiste Gourraud, Marie-A Chaix, Azadeh Shohoudi, Pierre Pagé, Marc Dubuc, Bernard Thibault, Nancy C Poirier, Annie Dore, François Marcotte, François-Pierre Mongeon, Anita W Asgar, Réda Ibrahim, Paul Khairy, Blandine Mondésert
BACKGROUND: Safety and feasibility data on transvenous lead extraction (TLE) in the challenging population of adults with congenital heart disease (A-CHD) are limited. Herein, we report the results of TLE in A-CHD during a 20-year period. METHODS AND RESULTS: All consecutive TLE procedures in A-CHD were included in a monocentric prospective registry from 1996. A total of 121 leads were extracted in 49 A-CHD (median age, 38 years; 51% men) during 71 TLE procedures...
February 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29437602/adult-congenital-heart-disease-in-a-nationwide-population-2000-2014-epidemiological-trends-arrhythmia-and-standardized-mortality-ratio
#7
Mei-Hwan Wu, Chun-Wei Lu, Hui-Chi Chen, Feng-Yu Kao, San-Kuei Huang
BACKGROUND: The adult congenital heart disease (ACHD) population will grow with medical advances, but data are limited. We investigated the epidemiological profile of ACHD in Taiwan, a country with a congenital heart disease program since 1955, population of 23 million, and easily accessible high-standard medical care. METHODS AND RESULTS: ACHD patients, born after 1954, were identified from the nationwide database 2000-2014. The ACHD prevalence in the population aged 18 to 59 was 140...
February 8, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29437076/transcatheter-pulmonary-valve-replacement-in-patients-with-congenital-heart-disease
#8
Shantelle Bartra
Transcatheter pulmonary valve replacement is now a feasible alternative to surgical pulmonary valve replacement in children and adults with dysfunctional right ventricular outflow conduits. Currently, 2 types of valves can be used for this application. This article provides an overview of the procedure and how it is performed, indications and contraindications for transcatheter pulmonary valve replacement, and short- and long-term outcomes. Nursing considerations mainly focus on educating patients, preventing bleeding and infection, monitoring renal function, and preventing injury to the catheter insertion site...
February 2018: Critical Care Nurse
https://www.readbyqxmd.com/read/29436381/subcutaneous-treprostinil-in-congenital-heart-disease-related-pulmonary-arterial-hypertension
#9
Nika Skoro-Sajer, Christian Gerges, Olga Hajnalka Balint, Dora Kohalmi, Monika Kaldararova, Iveta Simkova, Johannes Jakowitsch, Harald Gabriel, Helmut Baumgartner, Mario Gerges, Roela Sadushi-Kolici, David S Celermajer, Irene Marthe Lang
OBJECTIVE: To assess the efficacy and safety of subcutaneous treprostinil in adult patients with congenital heart disease (CHD)-associated pulmonary arterial hypertension (PAH) after 12 months of treatment. METHODS: Consecutive adult patients with CHD-PAH received subcutaneous treprostinil to maximum tolerated doses in an observational study. RESULTS: Advanced CHD-PAH patients with WHO class III or IV disease (n=32, age 40±10 years, 20 females) received treprostinil for suboptimal response to bosentan (n=12), WHO functional class IV disease (FC, n=7) or prior to bosentan approval (n=13)...
February 7, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29433351/transcatheter-pulmonary-valve-implantation-will-it-replace-surgical-pulmonary-valve-replacement
#10
Ahmed Kheiwa, Punag Divanji, Vaikom S Mahadevan
Right ventricular outflow tract (RVOT) dysfunction is a common hemodynamic challenge for adults with congenital heart disease (ACHD), including patients with repaired tetralogy of Fallot (TOF), truncus arteriosus (TA), and those who have undergone the Ross procedure for congenital aortic stenosis and the Rastelli repair for transposition of great vessels. Pulmonary valve replacement (PVR) has become one of the most common procedures performed for ACHD patients. Areas covered: Given the advances in transcatheter technology, we conducted a detailed review of the available studies addressing the indications for PVR, historical background, evolving technology, procedural aspects, and the future direction, with an emphasis on ACHD patients...
February 12, 2018: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/29433184/transoral-versus-transnasal-approach-for-craniovertebral-junction-pathologies-never-say-never
#11
Massimiliano Visocchi, Francesco Signorelli, Chenlong Liao, Mario Rigante, Gaetano Paludetti, Giuseppe Barbagallo, Alessandro Olivi
OBJECTIVE: For many years, the microsurgical transoral approach (TOA) has been accepted as the "gold standard" for the surgical treatment of a variety of congenital, developmental, and acquired pathologies affecting the craniovertebral junction. In the present study, we try to investigate both experimental and clinical fronts of such a challenging surgery, starting from the updated literature experience. TOA is actually presented as an "old-fashioned" surgical technique dealing with possible bacterial contamination, the need of postoperative nose gastric tube feeding for a week, the possible nasopharyngeal incompetence, and the postoperative tongue swelling...
February 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29432304/anemia-in-adolescents-and-young-adult-patients-with-congenital-heart-disease
#12
Juan L Rodríguez-Hernández, Fayna Rodríguez-González, Efrén Martínez-Quintana
INTRODUCTION: Despite anemia in acquired heart disease being a common problem, little is known in patients with congenital heart disease (CHD). METHODS: In total, 544 consecutive stable noncyanotic CHD patients were studied to determine demographic, clinical, and analytic parameters. Anemia was defined as a condition in which hemoglobin concentration was <13 g/dL in male individuals and <12 g/dL in female individuals. RESULTS: In total, 49 (9%) CHD patients had anemia...
February 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29426959/acute-effect-of-inhaled-iloprost-in-children-with-pulmonary-arterial-hypertension-associated-with-simple-congenital-heart-defects
#13
Qiangqiang Li, Konstantinos Dimopoulos, Chen Zhang, Yan Zhu, Qian Liu, Hong Gu
Inhaled prostacyclin analogue iloprost is currently utilized in adult patients with pulmonary arterial hypertension (PAH), but little information is available on its use in the pediatric population. This study evaluated the safety and acute haemodynamic effects of inhaled iloprost in children with PAH associated with congenital heart disease (CHD). Children with PAH-CHD who underwent cardiac catheterization and iloprost administration in our catheter laboratory between June 2007 and October 2015 were included...
February 9, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29425288/does-frequently-inadequate-adult-care-threaten-the-outcome-of-congenital-heart-disease-after-successful-paediatric-treatment
#14
Helmut Baumgartner
No abstract text is available yet for this article.
February 7, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29421004/variation-in-practice-patterns-in-device-closure-of-atrial-septal-defects-and-patent-ductus-arteriosus-an-analysis-of-data-from-the-improving-pediatric-and-adult-congenital-treatment-impact-registry
#15
Michael L O'Byrne, Kevin F Kennedy, Jonathan J Rome, Andrew C Glatz
Practice variation is a potentially important measure of healthcare quality. The IMPACT registry provides a representative national sample with which to study practice variation in trans-catheter interventions for congenital heart disease. METHODS: We studied cases for closure of atrial septal defect (ASD) and patent ductus arteriosus (PDA) in IMPACT between January 1, 2011, and September 30, 2015, using hierarchical multivariate models studying (1) the distribution of indications for closure and (2) in patients whose indication for closure was left (LVVO) or right ventricular volume overload (RVVO), the factors influencing probability of closure of a small defect (either in size or in terms of the magnitude of shunt)...
February 2018: American Heart Journal
https://www.readbyqxmd.com/read/29417167/maternal-no2-exposure-induces-cardiac-hypertrophy-in-male-offspring-via-ros-hif-1%C3%AE-transcriptional-regulation-and-aberrant-dna-methylation-modification-of-csx-nkx2-5
#16
Yingying Zhang, Wei Yan, Xiaotong Ji, Huifeng Yue, Guangke Li, Nan Sang
Maternal exposure to nitrogen dioxide (NO2) poses a risk for morbidity and mortality in infantile congenital heart diseases and even adult cardiovascular diseases. However, the experimental evidence supporting these effects is insufficient, and the related regulatory mechanisms are unknown. In the present study, we aimed to determine whether maternal NO2 exposure causes cardiac hypertrophy-related consequences in offspring, and if so, how these adverse effects occur in the postnatal heart. The results indicate that in mice, maternal NO2 exposure causes cardiac hypertrophy in male offspring...
February 7, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29414558/illness-identity-in-young-adults-with-refractory-epilepsy
#17
Koen Luyckx, Leen Oris, Koen Raymaekers, Jessica Rassart, Philip Moons, Ludo Verdyck, Teus Mijnster, Ruth E Mark
INTRODUCTION: Refractory epilepsy is an intrusive condition with important implications for daily functioning in emerging and young adulthood. The present study examined the degree to which refractory epilepsy is integrated in one's identity, and examined how such a sense of illness identity was related to health-related quality of life (HRQOL). METHODS: A total of 121 18- to 40-year-old patients with refractory epilepsy (56.2% women) completed self-report questionnaires assessing the four illness identity states of acceptance, enrichment, engulfment, and rejection (Illness Identity Questionnaire (IIQ)); HRQOL (Quality of Life in Epilepsy Inventory - 31); and seizure frequency and severity (Liverpool Seizure Severity Scale (LSSS))...
February 1, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29410185/evaluation-of-the-adult-congenital-heart-surgery-mortality-score-at-two-european-centers
#18
Jürgen Hörer, Emre Belli, Régine Roussin, Emanuel LeBret, Mohamed Ly, Jarrah Abdullah, Raffaella Marzullo, Martina Strbad, Julie Cleuziou, Jelena Pabst von Ohain, Rüdiger Lange
BACKGROUND: The Adult Congenital Heart Surgery (ACHS) score was derived from the Society of Thoracic Surgeons Congenital Heart Surgery Database. The score was validated with data of 1,603 operations and reached a good predictive power. We sought to evaluate its predictive power on 1,654 operations performed in 2 European centers. METHODS: Data of all consecutive patients aged 18 years or more, who underwent surgery for congenital heart disease between 2004 and 2013 at Center 1 (n=830), and between 2005 and 2016 at Center 2 (n=824), were collected...
February 1, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29408245/history-of-the-southern-thoracic-surgical-association-president-s-award-for-best-scientific-paper
#19
Constantine Mavroudis
The President's Award for best scientific paper is presented to esteemed members at each Southern Thoracic Surgical Association annual meeting to stimulate friendly scientific competition. Between 1964 and 2015, 58 awards were presented for clinical expertise in general thoracic surgery (18); adult cardiac surgery (25), and congenital heart surgery (15). Manuscripts were published by Annals of Thoracic Surgery, and the average number of subsequent citations in professional medical journals as a measure of scientific importance was 43...
February 2, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29405126/evaluation-of-the-uf-nci-hybrid-computational-phantoms-for-use-in-organ-dosimetry-of-pediatric-patients-undergoing-fluoroscopically-guided-cardiac-procedures
#20
Emily L Marshall, David Borrego, Trung Tran, James C Fudge, Wesley E Bolch
Epidemiologic data demonstrate that pediatric patients face a higher relative risk of radiation induced cancers than their adult counterparts at equivalent exposures. Infants and children with congenital heart defects are a critical patient population exposed to ionizing radiation during life-saving procedures. These patients will likely incur numerous procedures throughout their lifespan, each time increasing their cumulative radiation absorbed dose. As continued improvements in long-term prognosis of congenital heart defect patients is achieved, a better understanding of organ radiation dose following treatment becomes increasingly vital...
February 6, 2018: Physics in Medicine and Biology
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