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https://www.readbyqxmd.com/read/29129249/association-between-hospital-rates-of-early-do-not-resuscitate-orders-and-favorable-neurological-survival-among-survivors-of-inhospital-cardiac-arrest
#1
Timothy J Fendler, John A Spertus, Kevin F Kennedy, Paul S Chan
BACKGROUND: Current guidelines recommend deferring prognostication for 48 to 72 hours after resuscitation from inhospital cardiac arrest. It is unknown whether hospitals vary in making patients who survive an arrest Do-Not-Resuscitate (DNR) early after resuscitation and whether a hospital's rate of early DNR is associated with its rate of favorable neurological survival. METHODS: Within Get With the Guidelines-Resuscitation, we identified 24,899 patients from 236 hospitals who achieved return of spontaneous circulation (ROSC) after inhospital cardiac arrest between 2006 and 2012...
November 2017: American Heart Journal
https://www.readbyqxmd.com/read/29128679/early-onset-epileptic-encephalopathy-with-de-novo-scn8a-mutation
#2
Yangyang Xiao, Jie Xiong, Ding'an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu
Early-onset epileptic encephalopathies (EOEEs) are clinically and genetically heterogeneous disorders characterized by intractable seizures and unremitting interictal paroxysmal epileptiform activity. Consequently, these syndromes impair neurodevelopment during the first year of life. Currently, the etiology of these disorders is largely unknown. In this study, Childhood-Onset Epilepsy Gene Panel Testing (containing 511 epilepsy-related genes) was performed in a parent-offspring trio. In this family, the son had refractory seizures, intellectual disability, and motor abnormalities, and he was diagnosed with EOEE...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29127118/the-acra-anatomy-study-assessment-of-disability-after-coronary-procedures-using-radial-access-a-comprehensive-anatomic-and-functional-assessment-of-the-vasculature-of-the-hand-and-relation-to-outcome-after-transradial-catheterization
#3
Maarten A H van Leeuwen, Maurits R Hollander, Dirk J van der Heijden, Peter M van de Ven, Kim H M Opmeer, Yannick J H J Taverne, Marco J P F Ritt, Ferdinand Kiemeneij, Nicolas M van Mieghem, Niels van Royen
BACKGROUND: The palmar arches serve as the most important conduits for digital blood supply, and incompleteness may lead to digital ischemia when the radial artery becomes obstructed after cardiac catheterization. The rate of palmar arch incompleteness and the clinical consequences after transradial access are currently unknown. METHODS AND RESULTS: The vascular anatomy of the hand was documented by angiography in 234 patients undergoing transradial cardiac catheterization...
November 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29114365/stroke-subtypes-risk-factors-and-mortality-rate-in-northwest-of-iran
#4
Mehdi Farhoudi, Kaveh Mehrvar, Homayoun Sadeghi-Bazargani, Mazyar Hashemilar, Manouchehr Seyedi-Vafaee, Elyar Sadeghi-Hokmabad, Reza Rikhtegar, Babak Saber-Maroof, Mohammad Abutalebi, Mahsa Rezaei, Sahar Vaferi, Alireza Aghili, Omid Ebrahimi
Background: Stroke is the second most common cause of death and first cause of disability in adults in the world. About 80% of all stroke deaths occur in developing countries. So far, the data on stroke epidemiology have been limited in Iran. Therefore, this study was focused on stroke demographic data, risk factors, types and mortality. Methods: A retrospective study was done in two university tertiary referral hospitals in Tabriz, northwest of Iran, from March 2008 to April 2013. Patients diagnosed with stroke were enrolled in the study...
July 6, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/29108807/is-the-intensity-or-duration-of-treadmill-training-important-for-stroke-patients-a-meta-analysis
#5
REVIEW
Sadegh Abbasian, Mahsa Rastegar Mm
BACKGROUND: Stroke, the third highest cause of death after cancer and cardiac diseases, is a strong cause of adult disability in most countries. Therefore, the aim of the current meta-analysis was to examine the most effective intensity and duration of treadmill training on motor performance in stroke subjects. METHODS: Suitable studies were recognized from January 1980 to July 2015 using PubMed as the main search engine. There were noticeable biases such as training intensity, training duration (≥2 weeks), relative training intensity, and Vo2max, which were controlled...
November 3, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29099024/serum-creatine-kinase-mb-isoenzyme-activity-among-subjects-with-uncomplicated-essential-hypertension-any-sex-differences
#6
Mathias Abiodun Emokpae, Goodluck O N A Nwagbara
Hypertension (high blood pressure) is a major health challenge and more women than men are affected by the condition. Complications as a result of this condition often lead to disabilities and premature death. The objective of this study was to evaluate creatine kinase-MB (CK-MB) activity in uncomplicated hypertension and to know whether sex differences exist in the activity of the enzyme. Serum creatine kinase-MB isoenzyme activity, troponin I, and lipid profile were evaluated in 140 male and 100 female Nigerians with hypertension...
April 27, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29098620/clinical-evidence-of-exercise-benefits-for-stroke
#7
Peipei Han, Wen Zhang, Li Kang, Yixuan Ma, Liyuan Fu, Liye Jia, Hairui Yu, Xiaoyu Chen, Lin Hou, Lu Wang, Xing Yu, Masahiro Kohzuki, Qi Guo
Even though stroke is the third, not the first, most common cause of disability-adjusted life years in developed countries, it is one of the most expensive to treat. Part of the expense is due to secondary problems in the post-stroke period including: cognition, memory, attention span, pain, sensation loss, psychological issues, and problems with mobility and balance. Research has identified that exercise has both positive physical and psychosocial effects for post-stroke patients. Therefore, this scientific statement provides an overview on exercise rehabilitation for post-stroke patients...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29095383/automated-external-defibrillators-in-high-schools-disparities-persist-despite-legislation
#8
Matthew D Thornton, Mark X Cicero, Megan E McCabe, Lei Chen
OBJECTIVES: Automated external defibrillators (AEDs) have demonstrated increased survival in out-of-hospital cardiac arrest, and their prevalence continues to rise. In 2009, Connecticut passed a legislation requiring all schools to have an AED, barring financial barriers. The objectives of this study were (1) to determine if this legislation was associated with an increase in Connecticut high school AEDs and (2) to detect disparities in the availability of AEDs based on school type, student demographics, and school size...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29073361/high-risk-sarcoidosis-current-concepts-and-research-imperatives
#9
William H Sauer, Barney J Stern, Robert Baughman, Daniel A Culver, Walter Royal
Sarcoidosis is a disease with heterogeneous manifestations and outcomes, varying in part based on organ involvement. Specifically, sarcoidosis patients at risk for poor outcomes include individuals with treatment-resistant pulmonary sarcoidosis, including fibrotic pulmonary disease and pulmonary hypertension, as well as those with cardiac, neurologic and multi-organ disease. The limited but available data relating to these high-risk sarcoidosis patients, defined as those patients with presentations requiring medical intervention to avoid progressive disability or premature death, was evaluated as part of the National Heart Lung and Blood Institute's (NHLBI) workshop to improve understanding of these disease manifestations...
October 26, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29067653/clinical-manifestations-and-overall-management-strategies-for-duchenne-muscular-dystrophy
#10
Takeshi Tsuda
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29066939/prevalence-of-neuro-musculoskeletal-pain-and-dysfunction-in-open-heart-surgical-patients-preoperatively-and-at-6-and-12-weeks-postoperatively-a-prospective-longitudinal-observation-study
#11
R Nicole Bellet, Rhonda L Lamb, Tonya D Gould, Harold J Bartlett
Chronic neuro-musculoskeletal pain is an important complication of open-heart surgery (OHS). To better understand the development and natural course of neuro-musculoskeletal pain in the immediate post-OHS period, this prospective longitudinal study assessed the prevalence and degree of pain and shoulder disability, and areas of pain pre- and post-OHS. Usual medical, nursing, and physiotherapy care was provided including early extubation, education, walking, sitting out of bed, and upper, lower limb, and trunk exercises from day 1 post-operation...
2017: Pragmatic and Observational Research
https://www.readbyqxmd.com/read/29066376/a-de-novo-mutation-in-rpl10-causes-a-rare-x-linked-ribosomopathy-characterized-by-syndromic-intellectual-disability-and-epilepsy-a-new-case-and-review-of-the-literature
#12
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault, Kristin D Kernohan, David A Dyment
Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p...
October 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29040554/frailty-syndrome-an-emerging-clinical-problem-in-the-everyday-management-of-clinical-arrhythmias-the-results-of-the-european-heart-rhythm-association-survey
#13
Stefano Fumagalli, Tatjana S Potpara, Torben Bjerregaard Larsen, Kristina H Haugaa, Dan Dobreanu, Alessandro Proclemer, Nikolaos Dagres
The age of patients presenting with complex arrhythmias is increasing. Frailty is a multifaceted syndrome characterized by an increased vulnerability to stressors and a decreased ability to maintain homeostasis. The prevalence of frailty is associated with age. The aims of this European Heart Rhythm Association (EHRA) EP Wire survey were to evaluate the proportion of patients with frailty and its influence on the clinical management of arrhythmias. A total of 41 centres-members of the EHRA Electrophysiology Research Network-in 14 European countries completed the web-based questionnaire in June 2017...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29038029/expanding-the-spectrum-of-tbl1xr1-deletion-report-of-a-patient-with-brain-and-cardiac-malformations
#14
Ana Carolina Vaqueiro, Claudiner Pereira de Oliveira, Mara Santos Cordoba, Beatriz Ribeiro Versiani, Camila Xavier de Carvalho, Pedro Guilherme Alves Rodrigues, Silviene Fabiana de Oliveira, Juliana Forte Mazzeu, Aline Pic-Taylor
The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the molecular switch of specific gene transcription. Deletions of the TBL1XR1 gene have been described in two families to date, both presenting intellectual disability and dysmorphisms. Rare recurrent chromosomal micro-rearrangements, particularly those involving single genes, represent a challenge for clinicians to ensure correlation with phenotype due to the paucity of previously described cases...
October 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29034164/aberrant-brain-functional-connectivity-in-newborns-with-congenital-heart-disease-before-cardiac-surgery
#15
Josepheen De Asis-Cruz, Mary T Donofrio, Gilbert Vezina, Catherine Limperopoulos
Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29029074/multimodality-imaging-evaluation-of-chagas-disease-an-expert-consensus-of-brazilian-cardiovascular-imaging-department-dic-and-the-european-association-of-cardiovascular-imaging-eacvi
#16
Maria Carmo P Nunes, Luigi Paolo Badano, J Antonio Marin-Neto, Thor Edvardsen, Covadonga Fernández-Golfín, Chiara Bucciarelli-Ducci, Bogdan A Popescu, Richard Underwood, Gilbert Habib, Jose Luis Zamorano, Roberto Magalhães Saraiva, Ester Cerdeira Sabino, Fernando A Botoni, Márcia Melo Barbosa, Marcio Vinicius L Barros, Eduardo Falqueto, Marcus Vinicius Simões, André Schmidt, Carlos Eduardo Rochitte, Manoel Otávio Costa Rocha, Antonio Luiz Pinho Ribeiro, Patrizio Lancellotti
Aims: To develop a document by Brazilian Cardiovascular Imaging Department (DIC) and the European Association of Cardiovascular Imaging (EACVI) to review and summarize the most recent evidences about the non-invasive assessment of patients with Chagas disease, with the intent to set up a framework for standardized cardiovascular imaging to assess cardiovascular morphologic and functional disturbances, as well as to guide the subsequent process of clinical decision-making. Methods and results: Chagas disease remains one of the most prevalent infectious diseases in Latin America, and has become a health problem in non-endemic countries...
September 25, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#17
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29024604/the-avian-embryo-as-a-model-for-fetal-alcohol-spectrum-disorders
#18
Susan M Smith, George R Flentke
Prenatal alcohol exposure (PAE) remains a leading preventable cause of structural birth defects and permanent neurodevelopmental disability. The chick (Gallus gallus domesticus) is a powerful embryological research model and was possibly the first (Fere, 1895) in which alcohol's teratogenicity was demonstrated. Pharmacologically relevant alcohol exposures in the range of 20-70 mM (20-80 mg/egg) disrupt chick embryo growth, morphogenesis, and behavior, and the resulting phenotypes strongly parallel those of mammalian models...
October 12, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29021403/heterozygous-mutations-affecting-the-protein-kinase-domain-of-cdk13-cause-a-syndromic-form-of-developmental-delay-and-intellectual-disability
#19
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause. RESULTS: Our cohort comprised 16 individuals aged 4-16 years. All had developmental delay, including six with autism spectrum disorder...
October 11, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28991673/mortality-and-morbidity-among-hospitalized-adult-patients-with-neurological-diseases-in-cameroon
#20
Katie Kompoliti, Jacques Doumbe, Yacoumba Njankouo Mapoure, Theophile Nyinyikua, Bichun Ouyang, Hiral Shah, Sara Calvo, Abel Fernandez-Sierra, Maria Esther Cubo Delgado
BACKGROUND: There is inadequate information on the morbidity and mortality (M&M) from neurological diseases in sub-Saharan Africa. OBJECTIVE: To record the M&M from neurological diseases in adults in Cameroon from 2013 to 2015 using a registry and surveillance from two urban health care centers. METHODS: Records from all adult admissions from two urban hospitals over a two year period were reviewed. Adult cases with neurological diagnosis as the main cause for admission were identified...
October 15, 2017: Journal of the Neurological Sciences
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