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Cardiac disability

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https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#1
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28799460/economic-and-social-impact-of-increased-cardiac-rehabilitation-uptake-and-cardiac-telerehabilitation-in-belgium-a-cost-benefit-analysis
#2
Ines Frederix, Dominique Vandijck, Niel Hens, Johan De Sutter, Paul Dendale
BACKGROUND: Cardiac rehabilitation for ischaemic heart disease effectively reduces cardiovascular readmission rate and mortality. Current uptake rates however, remain low. This study assesses the social and economic impact of increasing centre-based cardiac rehabilitation uptake and the additional value of cardiac telerehabilitation using cost-benefit analysis (CBA) in Belgium. METHODS: Cost-benefit analysis was conducted to analyse three scenarios: (1) current situation: 20% uptake rate of cardiac rehabilitation; (2) alternative scenario one: 40% uptake rate of cardiac rehabilitation; and (3) alternative scenario two: 20% uptake of cardiac rehabilitation and 20% uptake of both cardiac rehabilitation and telerehabilitation...
August 11, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28795253/autonomic-responses-to-head-up-tilt-test-in-children-with-autism-spectrum-disorders
#3
Véronique-Aurélie Bricout, Marion Pace, Léa Dumortier, Anne Favre-Juvin, Michel Guinot
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders often manifested by social and behavioral deficiencies. Autonomic dysfunction is frequently reported in the autistic population but the mechanisms remain largely unknown. We aimed to characterize the cardiac autonomic profile of children with autism during a head-up tilt test. Thirty-nine male children were recruited: 19 controls (9.9 ± 1.6 years) and 20 children with ASD without intellectual disability (10.7 ± 1.2 years). Each child underwent a head-up tilt test on a motorized tilt table...
August 9, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28768610/behavior-change-techniques-in-physical-activity-ehealth-interventions-for-people-with-cardiovascular-disease-systematic-review
#4
Orlaith Mairead Duff, Deirdre Mj Walsh, Bróna A Furlong, Noel E O'Connor, Kieran A Moran, Catherine B Woods
BACKGROUND: Cardiovascular disease (CVD) is the leading cause of premature death and disability in Europe, accounting for 4 million deaths per year and costing the European Union economy almost €196 billion annually. There is strong evidence to suggest that exercise-based secondary rehabilitation programs can decrease the mortality risk and improve health among patients with CVD. Theory-informed use of behavior change techniques (BCTs) is important in the design of cardiac rehabilitation programs aimed at changing cardiovascular risk factors...
August 2, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28764949/neurological-outcomes-of-patients-with-history-of-obstructive-sleep-apnea-after-a-cardiac-arrest
#5
David Alejos, Emir E Festic, Pramod Guru, John E Moss
BACKGROUND: Cardiac arrest survivors may have disabilities due to hypoxic brain injury. Patients with obstructive sleep apnea are exposed to intermittent hypoxemia that may lead to ischemic preconditioning. We have hypothesized that patients with obstructive sleep apnea have better neurological outcomes following a cardiac arrest due to preconditioning of the brain. METHODS: We retrospectively analyzed all the survivors of in-hospital cardiac arrest from January 2006 to September 2016...
July 29, 2017: Resuscitation
https://www.readbyqxmd.com/read/28751850/anmco-sic-sici-gise-sicch-executive-summary-of-consensus-document-on-risk-stratification-in-elderly-patients-with-aortic-stenosis-before-surgery-or-transcatheter-aortic-valve-replacement
#6
Giovanni Pulignano, Michele Massimo Gulizia, Samuele Baldasseroni, Francesco Bedogni, Giovanni Cioffi, Ciro Indolfi, Francesco Romeo, Adriano Murrone, Francesco Musumeci, Alessandro Parolari, Leonardo Patanè, Paolo Giuseppe Pino, Annalisa Mongiardo, Carmen Spaccarotella, Roberto Di Bartolomeo, Giuseppe Musumeci
Aortic stenosis is one of the most frequent valvular diseases in developed countries, and its impact on public health resources and assistance is increasing. A substantial proportion of elderly people with severe aortic stenosis is not eligible to surgery because of the advanced age, frailty, and multiple co-morbidities. Transcatheter aortic valve implantation (TAVI) enables the treatment of very elderly patients at high or prohibitive surgical risk considered ineligible for surgery and with an acceptable life expectancy...
May 2017: European Heart Journal Supplements: Journal of the European Society of Cardiology
https://www.readbyqxmd.com/read/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#7
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28735783/myocardial-viability-state-of-the-art-is-it-still-relevant-and-how-to-best-assess-it-with-imaging
#8
REVIEW
Hena Patel, Wojciech Mazur, Kim Allan Williams, Dinesh K Kalra
Despite major advances, ischemic cardiomyopathy (ICM) remains a significant cause of death and disability worldwide, with coronary artery disease (CAD) the leading cause of left ventricular (LV) systolic dysfunction. Coronary revascularization may improve LV function, heart failure symptoms and cardiovascular outcomes in high-risk patients with myocardial viability. Multiple imaging modalities have been utilized to detect viable myocardium and predict functional recovery following revascularization. Dobutamine stress echocardiography (DSE), nuclear imaging and cardiac MRI (CMR) are frequently used to assess viability...
July 10, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#9
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735291/subclinical-atherosclerosis-cardiac-and-kidney-function-heart-failure-and-dementia-in-the-very-elderly
#10
Lewis H Kuller, Oscar L Lopez, John S Gottdiener, Dalane W Kitzman, James T Becker, Yuefang Chang, Anne B Newman
BACKGROUND: Heart failure (HF) and dementia are major causes of disability and death among older individuals. Risk factors and biomarkers of HF may be determinants of dementia in the elderly. We evaluated the relationship between biomarkers of cardiovascular disease and HF and risk of dementia and death. Three hypotheses were tested: (1) higher levels of high-sensitivity cardiac troponin T, N-terminal of prohormone brain natriuretic peptide, and cystatin C predict risk of death, cardiovascular disease, HF, and dementia; (2) higher levels of cardiovascular disease biomarkers are associated with increased risk of HF and then secondary increased risk of dementia; and (3) risk of dementia is lower among participants with a combination of lower coronary artery calcium, atherosclerosis, and lower high-sensitivity cardiac troponin T (myocardial injury)...
July 22, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28733766/magnetic-resonance-imaging-in-patients-with-cardiac-implantable-electronic-devices-a-single-center-prospective-study
#11
Mrinal Yadava, Matthew Nugent, Angela Krebsbach, Jessica Minnier, Peter Jessel, Charles A Henrikson
PURPOSE: Cardiac implantable electronic devices (CIEDs) have traditionally been a contraindication for magnetic resonance imaging (MRI). Recent studies suggest that MRI can be conducted safely in select patients with pacemakers (PPMs) and implantable cardioverter defibrillators (ICDs). We sought to determine the safety of MRI in patients with CIEDs, using a protocol for patient selection and device programming. METHODS: This is a prospective, single-center study...
July 22, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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