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https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#1
Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixas
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. In order to achieve this goal, relevant symptoms and laboratory findings were collected from 98 Brazilian patients included in THAOS - the Transthyretin Amyloidosis Outcomes Survey...
July 18, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28714410/management-of-blood-pressure-and-heart-rate-in-patients-with-acute-stroke
#2
Carlo Maida, Antonino Tuttolomondo, Domenico Di Raimondo, Antonio Pinto
BACKGROUND: Stroke represent one of the most devastating of all neurological diseases, affecting about 15 million people per year and is an important cause of morbidity and mortality worldwide and currently the leading cause of adult disability in developed countries. Blood pressure and heart rate may undergo several modifications in patients with both ischemic and hemorrhagic stroke in fact raised blood pressure levels may lead to cerebral edema, hematoma expansion or hemorrhagic transformation and in contrast low blood pressure can lead to increased cerebral infarction or perihematomal ischemia...
July 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28711883/medical-evaluation-of-efficiency-of-optimized-models-for-early-detection-and-primary-prevention-of-cardiovascular-diseases
#3
Vyacheslav M Zhdan, Irina A Holovanova, Valentina L Filatova, Maxim V Khorosh
INTRODUCTION: Nowadays cardiovascular disease occupies a leading place in the structure of the prevalence, incidence, disability causes and mortality of the adult population in Ukraine and in the whole world. The prevalence of hypertension in the adult population ranges from 25 - 40%, coronary heart disease is almost 20% of people aged 50-59 years while 24.3% of them have a form of silent coronary artery disease. The feasibility of study is justified by the need to perform health institutions Law of Ukraine dated 07...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28710305/autism-spectrum-disorder-in-say-barber-biesecker-young-simpson-syndrome
#4
Jessica Merritt, Joseph C Hart, Tracy L LeGrow
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities. There has been little psychiatric or psychological description of children with SBBYSS, although previous reports noted repetitive self-injurious behaviours, sensitivity to light and noise and severe deficits in communication. In this report, a 4-year-old male with SBBYSS is described with a focus on psychiatric and psychological assessment, including formal testing for autism spectrum disorder (ASD)...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28702121/occurrence-of-femoral-nerve-injury-among-patients-undergoing-transfemoral-percutaneous-catheterization-procedures-in-the-united-states
#5
Mohammad El-Ghanem, Ahmed A Malik, Andre Azzam, Hussam A Yacoub, Adnan I Qureshi, Nizar Souayah
BACKGROUND: The proximity of the femoral nerve to the femoral artery renders it vulnerable to injury during transfemoral percutaneous catheterization (TPC) procedures. OBJECTIVE: To determine the incidence of femoral nerve injury in patients undergoing cardiac catheterization in a nationally representative inpatient database. METHODS: We analyzed data released annually from the Nationwide Inpatient Sample. We pooled data from 2002 to 2010 and, using the ICD-9-CM procedure codes, identified patients who underwent TPC...
June 2017: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/28695245/risk-factors-for-peri-procedural-arterial-ischaemic-stroke-in-children-with-cardiac-disease
#6
Hiroko Asakai, Belinda Stojanovski, John C Galati, Dianna Zannino, Michael Cardamone, Darren Hutchinson, Michael M H Cheung, Mark T Mackay
Improved survival of children with congenital heart disease has led to increasing focus on neurodevelopmental outcome, as close to half of the infants undergoing cardiac surgery are affected by neurodevelopmental disability. Stroke is particularly important as it frequently results in permanent neurologic sequelae. The aim of this study was to investigate risk factors for peri-procedural arterial ischaemic stroke (AIS) in children with cardiac disease. A retrospective case-control analysis of children aged <18 years with radiologically confirmed AIS following a cardiac procedure admitted to the Royal Children's Hospital Melbourne between 1993 and 2010...
July 11, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28693934/frailty-in-older-adults-undergoing-aortic%C3%A2-valve-replacement-the-frailty-avr-study
#7
Jonathan Afilalo, Sandra Lauck, Dae H Kim, Thierry Lefèvre, Nicolo Piazza, Kevin Lachapelle, Giuseppe Martucci, Andre Lamy, Marino Labinaz, Mark D Peterson, Rakesh C Arora, Nicolas Noiseux, Andrew Rassi, Igor F Palacios, Philippe Généreux, Brian R Lindman, Anita W Asgar, Caroline A Kim, Amanda Trnkus, José A Morais, Yves Langlois, Lawrence G Rudski, Jean-Francois Morin, Jeffrey J Popma, John G Webb, Louis P Perrault
BACKGROUND: Frailty is a geriatric syndrome that diminishes the potential for functional recovery after a transcatheter aortic valve replacement (TAVR) or surgical aortic valve replacement (SAVR) procedure; however, its integration in clinical practice has been limited by a lack of consensus on how to measure it. OBJECTIVES: This study sought to compare the incremental predictive value of 7 different frailty scales to predict poor outcomes following TAVR or SAVR...
July 1, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#8
Luisa Politano, Marianna Scutifero, Melania Patalano, Alessandra Sagliocchi, Antonella Zaccaro, Federica Civati, Erika Brighina, Gianluca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Giulia Ricci, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Lorenza Magliano
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD)...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690312/wolff-parkinson-white-syndrome-with-ventricular-hypertrophy-in-a-brazilian-family
#9
Lenises de Paula van der Steld, Oscar Campuzano, Alexandra Pérez-Serra, Mabel Moura de Barros Zamorano, Selma Sousa Matos, Ramon Brugada
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53...
July 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28685252/imaging-the-event-prone-coronary-artery-plaque
#10
Andreas A Giannopoulos, Dominik C Benz, Christoph Gräni, Ronny R Buechel
Acute coronary events, the dreaded manifestation of coronary atherosclerosis, remain one of the main contributors to mortality and disability in the developed world. The majority of those events are associated with atherosclerotic plaques-related thrombus formation following an acute disruption, that being rupture or erosion, of an event-prone lesion. These historically termed vulnerable plaques have been the target of numerous benchtop and clinical research endeavors, yet to date without solid results that would allow for early identification and potential treatment...
July 6, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28678039/familial-amyloid-polyneuropathy
#11
David Adams, Cécile Cauquil, Céline Labeyrie
PURPOSE OF REVIEW: Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research. RECENT FINDINGS: Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India)...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28660151/nonalcoholic-fatty-liver-disease-nafld-and-risk-of-cardiac-arrhythmias-a-new-aspect-of-the-liver-heart-axis
#12
REVIEW
Alessandro Mantovani
Nonalcoholic fatty liver disease (NAFLD) is a pathologic condition frequently observed in clinical practice. To date, the prevalence of NAFLD is approximately 25-30% among adults of the general population in Western countries but increases to approximately 70-75% among patients with type 2 diabetes mellitus. In the last decade, accumulating evidence has clearly demonstrated that patients with NAFLD have not only an increased liver-related morbidity and mortality but also an increased risk of fatal and non-fatal cardiovascular events...
June 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28649851/avoidance-of-urinary-catheterization-to-minimize-in-hospital-complications-after-transcatheter-aortic-valve-implantation-an-observational-study
#13
Sandra B Lauck, Jae-Yung Kwon, David A Wood, Jennifer Baumbusch, Tone M Norekvål, Nay Htun, Leo Stephenson, John G Webb
BACKGROUND: Contemporary transcatheter aortic valve implantation (TAVI) devices and approach present opportunities to review historical practices initially informed by early treatment development and cardiac surgery. The avoidance of urinary catheterization in the older TAVI population is a strategy to minimize in-hospital complications. The purpose of the study was to explore elimination-related complications following the phased implementation of a default strategy of avoiding urinary catheterization in patients undergoing transfemoral (TF) TAVI...
June 1, 2017: European Journal of Cardiovascular Nursing
https://www.readbyqxmd.com/read/28646442/variability-of-adverse-events-in-the-public-health-care-service-of-the-tuscany-region
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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