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https://www.readbyqxmd.com/read/28646442/variability-of-adverse-events-in-the-public-health-care-service-of-the-tuscany-region
#1
Sara Albolino, Riccardo Tartaglia, Tommaso Bellandi, Elisa Bianchini, Giancarlo Fabbro, Silvia Forni, Giulia Cernuschi, Annibale Biggeri
The objective of the study is to analyze the variation of adverse events (AEs) according to the different structure of hospitals. The study is a multicenter, retrospective study. It involves 4 teaching hospitals (THs) and 32 community hospitals, distributed in 12 local trusts (LTs), of the Tuscany Regional Healthcare Service (RHS). A random sample of the clinical records of patients admitted in LTs and THs in 2008 was selected from the database of the hospital discharge records of the centers. Among 11,293 clinical records included, a total of 354 adverse events were identified...
June 23, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#2
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#3
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28630913/an-innovative-biologic-system-for-photon-powered-myocardium-in-the-ischemic-heart
#4
Jeffrey E Cohen, Andrew B Goldstone, Michael J Paulsen, Yasuhiro Shudo, Amanda N Steele, Bryan B Edwards, Jay B Patel, John W MacArthur, Michael S Hopkins, Casey E Burnett, Kevin J Jaatinen, Akshara D Thakore, Justin M Farry, Vi N Truong, Alexandra T Bourdillon, Lyndsay M Stapleton, Anahita Eskandari, Alexander S Fairman, William Hiesinger, Tatiana V Esipova, William L Patrick, Keven Ji, Judith A Shizuru, Y Joseph Woo
Coronary artery disease is one of the most common causes of death and disability, afflicting more than 15 million Americans. Although pharmacological advances and revascularization techniques have decreased mortality, many survivors will eventually succumb to heart failure secondary to the residual microvascular perfusion deficit that remains after revascularization. We present a novel system that rescues the myocardium from acute ischemia, using photosynthesis through intramyocardial delivery of the cyanobacterium Synechococcus elongatus...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28629587/microparticles-in-chronic-heart-failure
#5
Alexander E Berezin
Heart failure (HF) continues to have a sufficient impact on morbidity, mortality, and disability in developed countries. Growing evidence supports the hypothesis that microparticles (MPs) might contribute to the pathogenesis of the HF development playing a pivotal role in the regulation of the endogenous repair system, thrombosis, coagulation, inflammation, immunity, and metabolic memory phenomenon. Therefore, there is a large body of data clarifying the predictive value of MP numerous in circulation among subjects with HF...
2017: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/28627968/severe-myelinopathy-in-49-xxxxy-syndrome
#6
Mark A Buller, Cory M Pfeifer
49,XXXXY is a rare aneuploidy with neuroanatomic findings scarcely reported in the literature. Given the fact that many of its phenotypic characteristics are similar to Klinefelter patients, 49,XXXXY has been treated as a variant of Klinefelter syndrome in the past. Newer studies have shown that intellectual disabilities and cardiac sequelae are more common in 49,XXXXY making the need for more precise characterization of the disorder essential. Prior case studies have demonstrated focal (and to a lesser extent confluent) white abnormalities as well as enlarged perivascular cysts (often in clustered arrangements) in the brains of these patients, but high resolution magnetic resonance images of severe myelinopathy are infrequently documented...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28625318/prognostic-value-of-different-allelic-polymorphism-of-aldosterone-synthase-receptor-in-a-congestive-heart-failure-european-continental-ancestry-population
#7
Mauro Feola, Martino Monteverde, Daniela Vivenza, Marzia Testa, Laura Leto, Valentina Astesana, Francesco Mussapi, Antonello Vado, Marco Merlano, Cristiana Lo Nigro
Aldosterone synthase (CYP11B2) is as an 9-exon gene on chromosome 8q22 and exists as a common single nucleotide polymorphism C-T transition for position -344. The aim of this study was to assess the -344T/C polymorphism of the aldosterone synthase promoter in a European continental ancestry congestive heart failure (CHF) population. METHODS: Patients discharged after an acute decompensation were enrolled and underwent echocardiography, determination of BNP, evaluation of non-invasive cardiac outputs and determination of -344 T/C SNP in the aldosterone synthase gene...
February 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28619383/cardiac-rehabilitation-and-readmissions-after-heart-transplantation
#8
Justin M Bachmann, Ashish S Shah, Meredith S Duncan, Robert A Greevy, Amy J Graves, Shenghua Ni, Henry H Ooi, Thomas J Wang, Randal J Thomas, Mary A Whooley, Matthew S Freiberg
BACKGROUND: Exercise-based cardiac rehabilitation (CR) is under-utilized. CR is indicated after heart transplantation, but there are no data regarding CR participation in transplant recipients. We characterized current CR utilization among heart transplant recipients in the United States and the association of CR with 1-year readmissions using the 2013-2014 Medicare files. METHODS: The study population included Medicare beneficiaries enrolled due to disability (patients on the transplant list are eligible for disability benefits under Medicare regulations) or age ≥65 years...
May 23, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28600367/development-and-validation-of-a-risk-stratification-model-for-prediction-of-disability-and-hospitalisation-in-patients-with-heart-failure-a-study-protocol
#9
Luis García-Olmos, Francisco Rodríguez-Salvanés, Maurice Batlle-Pérez, Río Aguilar-Torres, Carlos Porro-Fernández, Alfredo García-Cabello, Montserrat Carmona, Sergio Ruiz-Alonso, Sofía Garrido-Elustondo, Ángel Alberquilla, Luis María Sánchez-Gómez, Ricardo Sánchez de Madariaga, Elena Monge-Navarrete, Luis Benito-Ortiz, Nicolás Baños-Pérez, Amaya Simón-Puerta, Ana Belén López Rodríguez, Miguel Ángel Martínez-Álvarez, María Ángeles Velilla-Celma, María Isabel Bernal-Gómez
BACKGROUND: Chronic heart failure (CHF) reduces quality of life and causes hospitalisation and death. Identifying predictive factors of such events may help change the natural history of this condition. AIM: To develop and validate a stratification system for classifying patients with CHF, according to their degree of disability and need for hospitalisation due to any unscheduled cause, over a period of 1 year. METHODS AND ANALYSIS: Prospective, concurrent, cohort-type study in two towns in the Madrid autonomous region having a combined population of 1 32 851...
June 8, 2017: BMJ Open
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#10
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28594658/total-percutaneous-cardiopulmonary-bypass-for-robotic-and-endoscopic-atrioventricular-valve-surgery
#11
Johan van der Merwe, Filip Casselman, Roel Beelen, Frank Van Praet
Continuous technological advances in endoscopic-, robotic- and catheter-based cardiac interventions are paralleled by rapid evolution in cannulation strategies for circulatory support. The recent introduction of suture-based percutaneous vascular closure devices resulted in innovative strategies to deliver peripheral endovascular therapeutic devices through the iliac and femoral arteries. Percutaneous access allows rapid postoperative mobilization and potentially avoids the devastating neuro-lympho-vascular- and wound infection morbidities associated with conventional open surgical exposure...
June 7, 2017: Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery
https://www.readbyqxmd.com/read/28583178/therapeutic-angiogenesis-of-adipose-derived-stem-cells-for-ischemic-diseases
#12
REVIEW
Lina Zhao, Takerra Johnson, Dong Liu
Ischemic diseases, the leading cause of disability and death, are caused by the stenosis or obstruction of arterioles/capillaries that is not compensated for by vessel dilatation or collateral circulation. Angiogenesis is a complex process leading to new blood vessel formation and is triggered by ischemic conditions. Adequate angiogenesis, as a compensatory mechanism in response to ischemia, may increase oxygen and nutrient supplies to tissues and protect their function. Therapeutic angiogenesis has been the most promising therapy for treating ischemic diseases...
June 5, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28577472/general-movement-trajectories-and-neurodevelopment-at-3months-of-age-following-neonatal-surgery
#13
Cathryn Crowle, Karen Walker, Claire Galea, Iona Novak, Nadia Badawi
BACKGROUND: Neonates who undergo major surgery are at risk of neurodevelopmental disability. The General Movements Assessment (GMA) is a valid and reliable method to predict neurodevelopment, however, there are minimal data on the applicability among infants post-surgery. AIM: To describe GMs trajectories following neonatal surgery. STUDY DESIGN: Prospective cohort study. SUBJECTS: 217 infants following major cardiac and non-cardiac neonatal surgery...
May 31, 2017: Early Human Development
https://www.readbyqxmd.com/read/28573043/a-safety-evaluation-of-profound-hypothermia-induced-suspended-animation-for-delayed-resuscitation-at-90-or-120%C3%A2-min
#14
Yu Liu, Shu Li, Zhi Li, Jian Zhang, Jin-Song Han, Yong Zhang, Zong-Tao Yin, Hui-Shan Wang
BACKGROUND: The successful treatment of military combat casualties with penetrating injuries is significantly dependent on the time needed to get the patient to an adequate treatment facility. Profound hypothermia-induced suspended animation for delayed resuscitation (SADR) is a novel approach for inducing cardiac arrest and buying additional time for such injuries. However, the time used to safely administer circulatory arrest (CA) is controversial. The goal of this study was to evaluate the safety of hypothermia-induced SADR over 90 and 120 min time intervals...
2017: Military Medical Research
https://www.readbyqxmd.com/read/28562571/hemodynamic-instability-after-pulmonary-veins-isolation-in-a-patient-with-dual-chamber-pacemaker-the-phantom-injury-of-the-ventricular-lead
#15
Márcio Galindo Kiuchi, Guilherme Miglioli Lobato, Shaojie Chen
INTRODUCTION: The standard treatment of sinus node dysfunction (SND) is the pacemaker implantation, and the ideal methodology for the management of atrial fibrillation (AF) is rhythm control, but this is sometimes very hard to accomplish. For such actions, complete isolation of all pulmonary veins (PVI) is currently widely accepted as the best endpoint. CASE PRESENTATION: In this case, we report a female patient, 81 years old, with controlled hypertension, without coronary artery disease, bearer of bilateral knee replacement, and dual chamber pacemaker implanted 1...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28561655/fertility-cardiac-and-orthopedic-challenges-in-survivors-of-adult-and-childhood-sarcoma
#16
Emma R Lipshultz, Ginger E Holt, Ranjith Ramasamy, Raphael Yechieli, Steven E Lipshultz
The combination of cisplatin, doxorubicin, and methotrexate was established as the standard backbone of contemporary osteosarcoma therapy in 1986. Since then, however, further improving the survival of patients with osteosarcoma has been challenging-30% to 40% of patients with osteosarcoma still die of this disease. In addition, these patients often experience loss of fertility at a young age, short- and long-term treatment-related cardiotoxicity, and adverse orthopedic effects from surgical resection of the tumor or endoprosthetic reconstructions...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28555453/-a-phenotypic-description-of-26-patients-with-ritscher-schinzel-syndrome-cranio-cerebello-cardiac-dysplasia-or-3c-syndrome
#17
S M Pira-Paredes, J H Montoya-Villada, J L Franco-Restrepo, M Moncada-Velez, J W Cornejo
INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort...
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28551797/peripheral-blood-mitochondrial-dna-and-myocardial-function
#18
Tatiana Kuznetsova, Judita Knez
Heart failure is a complex progressive clinical syndrome which is initiated by risk factors (e.g., hypertension, obesity, and diabetes), then proceeds to asymptomatic maladaptive left ventricular remodeling and dysfunction, and finally evolves into clinically overt, symptomatic heart failure, disability, and death. The progression of left ventricular dysfunction is associated with changes in cardiac energy metabolism. Mitochondria play a central role in a variety of cardiomyocytes functions, including oxidative energy production, storage of calcium ions, and programmed cell death...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28540212/infarct-characterization-using-ct
#19
REVIEW
Ludovico La Grutta, Patrizia Toia, Erica Maffei, Filippo Cademartiri, Roberto Lagalla, Massimo Midiri
Myocardial infarction (MI) is a major cause of death and disability worldwide. The incidence is not expected to diminish, despite better prevention, diagnosis and treatment, because of the ageing population in industrialized countries and unhealthy lifestyles in developing countries. Nowadays it is highly requested an imaging tool able to evaluate MI and viability. Technology improvements determined an expansion of clinical indications from coronary plaque evaluation to functional applications (perfusion, ischemia and viability after MI) integrating additional phases and information in the mainstream examination...
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28530671/cardiopulmonary-assessment-of-patients-with-systemic-sclerosis-for-hematopoietic-stem-cell-transplantation-recommendations-from-the-european-society-for-blood-and-marrow-transplantation-autoimmune-diseases-working-party-and-collaborating-partners
#20
REVIEW
D Farge, R K Burt, M-C Oliveira, E Mousseaux, M Rovira, Z Marjanovic, J de Vries-Bouwstra, N Del Papa, R Saccardi, S J Shah, D C Lee, C Denton, T Alexander, D G Kiely, J A Snowden
Systemic sclerosis (SSc) is a rare disabling autoimmune disease with a similar mortality to many cancers. Two randomized controlled trials of autologous hematopoietic stem cell transplantation (AHSCT) for SSc have shown significant improvement in organ function, quality of life and long-term survival compared to standard therapy. However, transplant-related mortality (TRM) ranged from 3-10% in patients undergoing HSCT. In SSc, the main cause of non-transplant and TRM is cardiac related. We therefore updated the previously published guidelines for cardiac evaluation, which should be performed in dedicated centers with expertize in HSCT for SSc...
May 22, 2017: Bone Marrow Transplantation
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