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https://www.readbyqxmd.com/read/28719142/changing-prevalence-of-severe-congenital-heart-disease-results-from-the-national-register-for-congenital-heart-defects-in-germany
#1
Constanze Pfitzer, Paul C Helm, Hannah Ferentzi, Lisa-Maria Rosenthal, Ulrike M M Bauer, Felix Berger, Katharina R L Schmitt
OBJECTIVE: To assess the prevalence of congenital heart disease (CHD) in Germany in relation to phenotypes, severity and gender. DESIGN: Cross-sectional registry study. SETTING: We analyzed data from patients with CHD born between 1996 and 2015. PATIENTS: A total of 26 630 patients, registered with the NRCHD, were born between 1996 and 2015. 10 927 patients were excluded from the current analysis due to prior registration with the NRCHD under the German PAN Prevalence Study, which showed a potential bias in the inclusion of this patient population (proportion of mild cardiac lesions was comparatively high due to improved diagnostic capability for earlier identifying minor lesions)...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28714856/use-of-human-aortic-extracellular-matrix-as-a-scaffold-for-construction-of-patient-specific-tissue-engineered-vascular-patch
#2
Liping Gao, Mingjun Du, Jingjing Lv, Sebastian Schmull, Ritai Huang, Jun Li
Abstract Synthetic or biologic materials are usually used to repair vascular malformation in congenital heart defects; however, non-autologous materials show both mismatch compliance and antigenicity, as well as a lack of recellularization on its surface. Here, we constructed a tissue-engineered vascular patch (TEVP) using decellularized extracellular matrix (ECM) scaffold obtained from excised human aorta during surgery, which was seeded with patient-derived bone marrow CD34-positive (CD34+) progenitor cells...
July 17, 2017: Biomedical Materials
https://www.readbyqxmd.com/read/28713984/downregulation-of-microrna%C3%A2-199a%C3%A2-5p-protects-cardiomyocytes-in-cyanotic-congenital-heart-disease-by-attenuating-endoplasmic-reticulum-stress
#3
Yang Zhou, Wei-Kun Jia, Zhao Jian, Liang Zhao, Chen-Cheng Liu, Yong Wang, Ying-Bin Xiao
Chronic hypoxia is a key pathological change in patients with cyanotic congenital heart defect (CCHD). It has been demonstrated that enhanced myocardial unfolded protein response (UPR) increases the capacity to buffer endoplasmic reticulum (ER) stress and to avoid subsequent apoptosis caused by the hypoxia that underlies CCHD. The present study was performed to determine the regulatory role of microRNAs (miRNAs) in this cytoprotective UPR process. The results revealed that miR‑199a‑5p was markedly downregulated in the cardiac tissue of patients with CCHD and in human myocardial cells cultured in hypoxic conditions...
July 6, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28711965/efficacy-of-an-extracellular-matrix-in-systemic-loading-conditions-in-congenital-heart-surgery
#4
Adeel Ashfaq, Amit Iyengar, Oh Jin Kwon, Mohammad S Soroya, Son Nguyen, Ryan Ou, Brian Reemtsen
Extracellular matrices (ECM) are commonly used to repair congenital heart defects; however, there is a lack of literature pertaining to outcomes with ECM use in high-pressure conditions. Between 2011 and 2014, a total of 202 patients underwent congenital heart disease repair using the ECM placed in a systemic pressure condition. The operative sites included: defects in the ventricular septum, mitral valve, aortic valve, ascending aorta, and aortic arch. Patients were followed and evaluated for mortality and reoperations due to loss of ECM integrity...
July 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28707420/transthoracic-intracardiac-catheters-in-pediatric-cardiac-patients-a-single-center-experience
#5
Kristoffer Beham, Hitendu Dave, Janet Kelly, Bernhard Frey, Maja I Hug, Barbara Brotschi
BACKGROUND: Transthoracic intracardiac catheters are frequently inserted in children during congenital heart surgery for monitoring and vascular access purposes. Their use entails a small potential risk. AIM: We aimed to evaluate both catheter-associated morbidities related to maintenance and removal of transthoracic intracardiac catheters in pediatric cardiac patients, and predictors for catheter-associated adverse events. METHODS: Single-center retrospective cohort study of prospectively collected data of children aged 0-14 years receiving a transthoracic intracardiac catheter inserted in the operating room during 7 consecutive years at the University Children's Hospital Zurich...
July 14, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28706585/atrial-tachyarrhythmia-in-adult-congenital-heart-disease
#6
REVIEW
Arsha Karbassi, Krishnakumar Nair, Louise Harris, Rachel M Wald, S Lucy Roche
The adult congenital heart disease (ACHD) population continues to grow and most cardiologists, emergency room physicians and family doctors will intermittently come into contact with these patients. Oftentimes this may be in the setting of a presentation with atrial tachyarrhythmia; one of the commonest late complications of ACHD and problem with potentially serious implications. Providing appropriate initial care and ongoing management of atrial tachyarrhythmia in ACHD patients requires a degree of specialist knowledge and an awareness of certain key issues...
June 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28706241/abnormal-paraventricular-nucleus-of-hypothalamus-and-growth-retardation-associated-with-loss-of-nuclear-receptor-gene-coup-tfii
#7
Su Feng, Can Xing, Tingyu Shen, Yunbo Qiao, Ran Wang, Jun Chen, Jiaoyang Liao, Zhuo Lu, Xiong Yang, Saber Mohamed Abd-Allah, Jinsong Li, Naihe Jing, Ke Tang
The paraventricular nucleus of hypothalamus plays important roles in the regulation of energy balance and fetal growth. However, the molecular mechanisms underlying its formation and function have not been clearly elucidated. Various mutations in the human COUP-TFII gene, which encodes a nuclear receptor, result in growth retardation, congenital diaphragmatic hernia and congenital heart defects. Here, we show that COUP-TFII gene is expressed in the developing hypothalamus in mouse. The ventral forebrain-specific RXCre/+; COUP-TFII (F/F) mutant mice display growth retardation...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#8
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28705031/barium-exposure-increases-the-risk-of-congenital-heart-defects-occurrence-in-offspring
#9
Nannan Zhang, Zhen Liu, Xiaoxian Tian, Ming Chen, Ying Deng, Yixiong Guo, Nana Li, Ping Yu, Jiaxiang Yang, Jun Zhu
CONTEXT: Several studies have investigated the association between heavy metal exposure and congenital heart defects (CHDs). However, there are limited data regarding the relationship between barium exposure and the occurrence of CHDs. The objective of this study was to analyze the association between barium exposure in mothers and the risk of CHD in offspring. MATERIALS AND METHODS: We developed a case-control study with 399 cases and 490 controls with normal live births in China...
July 14, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#10
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28701390/spontaneous-closure-of-patent-ductus-arteriosus-in-infants-%C3%A2-1500-g
#11
Jana Semberova, Jan Sirc, Jan Miletin, Jachym Kucera, Ivan Berka, Sylva Sebkova, Sinead O'Sullivan, Orla Franklin, Zbynek Stranak
OBJECTIVES: Patent ductus arteriosus (PDA) remains a challenging issue in very low birth weight (VLBW) infants, and its management varies widely. Our aim in this study was to document the natural course of ductus arteriosus in a cohort of VLBW infants who underwent conservative PDA management with no medical or surgical intervention. METHODS: A retrospective cohort study conducted in 2 European level-3 neonatal units. RESULTS: A total of 368 VLBW infants were born within the study period...
July 12, 2017: Pediatrics
https://www.readbyqxmd.com/read/28701211/inpatient-rehabilitation-for-adult-patients-with-marfan-syndrome-an-observational-pilot-study
#12
Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler, Eike Hoberg
BACKGROUND: Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac defects requires medical rehabilitation. Patients with Marfan syndrome (MFS) are a relevant group among these patients. So far, no reports on the effectiveness of specialized rehabilitation programmes for MFS patients exist. We implemented an inpatient 3-week rehabilitation program for MFS patients at the Muehlenberg-Clinic for rehabilitation and assessed the medical safety as well as the impact of the program on physical fitness and psychological wellbeing of participants by means of an observational pilot study...
July 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28697788/anatomic-histopathologic-and-echocardiographic-features-in-a-dog-with-an-atypical-pulmonary-valve-stenosis-with-a-fibrous-band-of-tissue-and-a-patent-ductus-arteriosus
#13
Hakyoung Yoon, Jaehwan Kim, Sang-Soep Nahm, Kidong Eom
BACKGROUND: Congenital pulmonary valve stenosis and patent ductus arteriosus are common congenital heart defects in dogs. However, concurrence of atypical pulmonary valve stenosis and patent ductus arteriosus is uncommon. This report describes the anatomic, histopathologic, and echocardiographic features in a dog with concomitant pulmonary valve stenosis and patent ductus arteriosus with atypical pulmonary valve dysplasia that included a fibrous band of tissue. CASE PRESENTATION: A 1...
July 11, 2017: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/28696878/asynchronous-pumping-of-a-pulsatile-ventricular-assist-device-in-a-pediatric-anastomosis-model
#14
Bryan C Good, William J Weiss, Steven Deutsch, Keefe B Manning
BACKGROUND: Both pulsatile and continuous flow ventricular assist devices are being developed for pediatric congenital heart defect patients. Pulsatile devices are often operated asynchronously with the heart in either an "automatic" or a fixed beat rate mode. However, most studies have only investigated synchronized ejection. METHODS: A previously validated viscoelastic blood solver is used to investigate the parameters of pulsatility, power loss, and graft failure in a pediatric aortic anastomosis model...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28696875/status-and-challenges-of-care-in-africa-for-adults-with-congenital-heart-defects
#15
Frank Edwin, Liesl Zühlke, Heba Farouk, Ana Olga Mocumbi, Kow Entsua-Mensah, Desrie Delsol-Gyan, Fidelia Bode-Thomas, Andre Brooks, Blanche Cupido, Mark Tettey, Ernest Aniteye, Martin M Tamatey, Kofi B Gyan, Jacques Cabral Tantchou Tchoumi, Mohamed-Adel Elgamal
The 54 countries in Africa have an estimated total annual congenital heart defect (CHD) birth prevalence of 300,486 cases. More than half (51.4%) of the continental birth prevalence occurs in only seven countries. Congenital heart disease remains primarily a pediatric health issue in Africa because of the deficient health-care systems: the adults with CHD made up just 10% of patients with CHD in Ghana, and 13.7% of patients with CHD presenting for surgery in Mozambique. With Africa's population projected to double in the next 35 years, the already deficient health systems for CHD care will suffer unbearable strain unless determined and courageous action is undertaken by the African leaders...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28696874/surgical-options-for-uhl-s-anomaly
#16
Jyoti Prasad Kalita, Nilajan Dutta, Neeraj Awasthy, Kuntal Roy Chowdhuri, Sumir Girotra, Sitaraman Radhakrishnan, Savitri Srivastava, Parvathi Unninayar Iyer, Krishna Subramony Iyer
BACKGROUND: Uhl's anomaly is an extremely rare congenital heart defect characterized by a near total absence of the myocardium of the parietal wall of the right ventricle. Few reports of surgical management exist in literature. We present three patients with this anomaly who were managed with different surgical strategies. PATIENTS AND METHODS: Patient 1: This 43-month-old girl had maternal rubella syndrome with speech and hearing deficits and gross right heart failure...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#17
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28688940/thoracostomy-tube-removal-implementation-of-a-multidisciplinary-procedural-pain-management-guideline
#18
Lisa M Ring, Anne Watson
OBJECTIVE: Thoracostomy tubes are placed following cardiothoracic surgery for the repair or palliation of congenital heart defects. The aim of this project was to develop and implement a clinical practice guideline for the provision of optimal analgesia during removal of thoracostomy tubes in pediatric postoperative cardiothoracic surgery patients. METHODS: Methods used include a nonexperimental design utilizing chart audits to determine baseline documentation as well as procedure note evaluation to determine both baseline documentation and compliance with the new guideline...
July 6, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28688840/impact-of-clinical-exomes-in-neurodevelopmental-and-neurometabolic-disorders
#19
Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou, Stefan Wiemann, Matthias Schlesner, Roland Eils, Stefan Kölker, Claus R Bartram, Georg F Hoffmann, Ute Moog
Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias)...
June 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28681132/lower-hospital-charges-and-societal-costs-for-catheter-device-closure-of-atrial-septal-defects
#20
Jessica N Sanchez, Michael D Seckeler
Atrial septal defects (ASD) are among the most common congenital heart defects. As more ASDs are corrected by interventional catheterization instead of surgery, it is critical to understand the associated clinical and societal costs. The goal of this study was to use a national U.S. database to describe hospital charges and societal costs for surgical and catheter-based (ASD) closure. Retrospective review of hospital discharge data from the Kids' Inpatient Database from January 2010 to December 2012. The database was queried for admissions for <21 years old with ICD-9 procedure codes for surgical (35...
July 5, 2017: Pediatric Cardiology
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