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Cardiac disability

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https://www.readbyqxmd.com/read/28430695/cerebral-recovery-index-reliable-help-for-prediction-of-neurologic-outcome-after-cardiac-arrest
#1
Marleen C Tjepkema-Cloostermans, Jeannette Hofmeijer, Albertus Beishuizen, Harold W Hom, Michiel J Blans, Frank H Bosch, Michel J A M van Putten
OBJECTIVE: Early electroencephalography measures contribute to outcome prediction of comatose patients after cardiac arrest. We present predictive values of a new cerebral recovery index, based on a combination of quantitative electroencephalography measures, extracted every hour, and combined by the use of a random forest classifier. DESIGN: Prospective observational cohort study. SETTING: Medical ICU of two large teaching hospitals in the Netherlands...
April 20, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#2
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28419120/structural-and-functional-changes-in-the-microcirculation-of-lepromatous-leprosy-patients-observation-using-orthogonal-polarization-spectral-imaging-and-laser-doppler-flowmetry-iontophoresis
#3
Curt Treu, Maria das Graças Coelho de Souza, Omar Lupi, Fernando Lencastre Sicuro, Priscila Alves Maranhão, Luiz Guilherme Kraemer-Aguiar, Eliete Bouskela
Leprosy is a chronic granulomatous infection of skin and peripheral nerves caused by Mycobacterium leprae and is considered the main infectious cause of disability worldwide. Despite the several studies regarding leprosy, little is known about its effects on microvascular structure and function in vivo. Thus, we have aimed to compare skin capillary structure and functional density, cutaneous vasomotion (spontaneous oscillations of arteriolar diameter), which ensures optimal blood flow distribution to skin capillaries) and cutaneous microvascular blood flow and reactivity between ten men with lepromatous leprosy (without any other comorbidity) and ten age- and gender-matched healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28403909/clinical-pathophysiology-of-hypoxic-ischemic-brain-injury-after-cardiac-arrest-a-two-hit-model
#4
REVIEW
Mypinder S Sekhon, Philip N Ainslie, Donald E Griesdale
Hypoxic ischemic brain injury (HIBI) after cardiac arrest (CA) is a leading cause of mortality and long-term neurologic disability in survivors. The pathophysiology of HIBI encompasses a heterogeneous cascade that culminates in secondary brain injury and neuronal cell death. This begins with primary injury to the brain caused by the immediate cessation of cerebral blood flow following CA. Thereafter, the secondary injury of HIBI takes place in the hours and days following the initial CA and reperfusion. Among factors that may be implicated in this secondary injury include reperfusion injury, microcirculatory dysfunction, impaired cerebral autoregulation, hypoxemia, hyperoxia, hyperthermia, fluctuations in arterial carbon dioxide, and concomitant anemia...
April 13, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28396082/pregnancy-related-spontaneous-coronary-artery-dissection-a%C3%A2-case-series-and-literature-review
#5
Emily Rose, Maheedhar Gedela, Nathan Miller, Paul L Carpenter
BACKGROUND: Cardiac emergencies during pregnancy are rare but have significant associated morbidity and mortality when they do occur. The emergency physician must not only be aware of potentially life-threatening conditions in the pregnant woman, but also know the emergent management and treatment of these conditions to avoid worsening of the underlying condition. Pregnancy-related spontaneous coronary artery dissection has been described in the cardiology literature, but is not well-known in emergency medicine literature...
April 7, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28393757/prehospital-randomised-assessment-of-a-mechanical-compression-device-in-out-of-hospital-cardiac-arrest-paramedic-a-pragmatic-cluster-randomised-trial-and-economic-evaluation
#6
Simon Gates, Ranjit Lall, Tom Quinn, Charles D Deakin, Matthew W Cooke, Jessica Horton, Sarah E Lamb, Anne-Marie Slowther, Malcolm Woollard, Andy Carson, Mike Smyth, Kate Wilson, Garry Parcell, Andrew Rosser, Richard Whitfield, Amanda Williams, Rebecca Jones, Helen Pocock, Nicola Brock, John Jm Black, John Wright, Kyee Han, Gary Shaw, Laura Blair, Joachim Marti, Claire Hulme, Christopher McCabe, Silviya Nikolova, Zenia Ferreira, Gavin D Perkins
BACKGROUND: Mechanical chest compression devices may help to maintain high-quality cardiopulmonary resuscitation (CPR), but little evidence exists for their effectiveness. We evaluated whether or not the introduction of Lund University Cardiopulmonary Assistance System-2 (LUCAS-2; Jolife AB, Lund, Sweden) mechanical CPR into front-line emergency response vehicles would improve survival from out-of-hospital cardiac arrest (OHCA). OBJECTIVE: Evaluation of the LUCAS-2 device as a routine ambulance service treatment for OHCA...
March 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28393272/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual-disability
#7
Nuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H Elcioglu, Catharine Freyer, Erica H Gerkes, Yasemin Kendir Demirkol, Kelly G Knupp, Alma Kuechler, Yun Li, Daniel H Lowenstein, Jacques L Michaud, Kristen Park, Alexander P A Stegmann, Hermine E Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels, Tim M Strom, Tjitske Kleefstra, Dagmar Wieczorek
Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum...
April 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28390077/aberrant-hras-transcript-processing-underlies-a-distinctive-phenotype-within-the-rasopathy-clinical-spectrum
#8
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, Marialetizia Motta, Francesca Romana Lepri, Lisabianca Bottero, Serena Cecchetti, Ilan Linger, Stefano Paolacci, Elisabetta Flex, Antonio Novelli, Alessandra Carè, Reza Ahmadian, Emilia Stellacci, Marco Tartaglia
RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in the RAS signaling network. These disorders share facial dysmorphia, short stature, variable cognitive deficits, skeletal and cardiac defects, and a variable predisposition to malignancies. Here, we report on a de novo 10-nucleotide-long deletion in HRAS (c.481_490delGGGACCCTCT, NM_176795.4; p.Leu163ProfsTer52, NP_789765...
April 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28386460/reversal-of-abnormal-cardiac-parameters-following-mitral-valve-replacement-for-severe-mitral-stenosis-in-relation-to-pulmonary-artery-pressure-a-retrospective-study-of-noninvasive-parameters-early-and-late-pattern
#9
REVIEW
Usha T Parvathy, Rajesh Rajan, Alexander Georgevich Faybushevich
BACKGROUND AND OBJECTIVES: Although the regression of pulmonary hypertension (PH) in mitral stenosis (MS) has been studied over varying periods postintervention, corresponding studies on the cardiac chamber alterations after surgery are very limited. We sought to determine the degree of reversal of these and the clinical status in connection with that of pulmonary artery pressures (PAPs) in the early and late postoperative periods. METHODS: The preoperative, early, and 1-year postoperative data - functional class (FC), cardiothoracic ratio (CTR) in chest X-ray (CXR), and echocardiographically left atrium (LA), right atrium (RA), right ventricle (RV), left ventricle (LV), and pulmonary artery (PA) dimensions, PAP, tricuspid regurgitation (TR) - of 50 patients who had mitral valve replacement (MVR) for MS with PH were retrospectively analyzed for correlations with PAP (Pearson's), and their change (t-test), in relation to that in PAP...
June 1, 2016: Interventional Medicine & Applied Science
https://www.readbyqxmd.com/read/28371005/adverse-events-in-cardiac-surgery-a-mixed-methods-retrospective-study-in-an-italian-teaching-hospital
#10
Tommaso Bellandi, Riccardo Tartaglia, Silvia Forni, Sara D'Arienzo, Giorgio Tulli
RATIONALE, AIMS, AND OBJECTIVES: Adverse events (AEs) are a major concern in surgery, but the evidence in cardiac surgery is limited, especially on the contributory factors. According to the data of the National Outcomes Program, a unit was selected to conduct a mixed methods investigation into the incidence, type, and cause of AE, given its mortality rate that was double the national average on coronary artery bypass grafting, valve reparation, and replacement. METHODS: A retrospective investigation on the performance of a cardiac surgery, combining the routinely collected data on process and outcome measures with a 2-stage structured review of 280 medical records performed by 3 expert clinicians, with the support of a methodologist...
March 28, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28363725/incidence-of-severe-critical-events-in-paediatric-anaesthesia-apricot-a-prospective-multicentre-observational-study-in-261-hospitals-in-europe
#11
Walid Habre, Nicola Disma, Katalin Virag, Karin Becke, Tom G Hansen, Martin Jöhr, Brigitte Leva, Neil S Morton, Petronella M Vermeulen, Marzena Zielinska, Krisztina Boda, Francis Veyckemans
BACKGROUND: Little is known about the incidence of severe critical events in children undergoing general anaesthesia in Europe. We aimed to identify the incidence, nature, and outcome of severe critical events in children undergoing anaesthesia, and the associated potential risk factors. METHODS: The APRICOT study was a prospective observational multicentre cohort study of children from birth to 15 years of age undergoing elective or urgent anaesthesia for diagnostic or surgical procedures...
March 28, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28362512/prognostic-role-of-cardiopulmonary-exercise-testing-in-clinical-practice
#12
Stefania Paolillo, Piergiuseppe Agostoni
Risk stratification is a mainstay in the care of cardiac and pulmonary disorders, as the identification of adverse outcomes helps provide measures to improve survival and quality of life. Cardiopulmonary exercise test is a useful prognostic tool in the clinical evaluation of several pathological conditions, such as heart diseases, respiratory disorders, and pulmonary hypertension. If not contraindicated, a cardiopulmonary exercise test should always be performed and integrated with clinical, laboratory, and hemodynamic parameters to better stratify patient risk...
March 31, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28361585/pyruvate-preserves-antiglycation-defenses-in-porcine-brain-after-cardiac-arrest
#13
Gary F Scott, Anh Q Nguyen, Brandon H Cherry, Roger A Hollrah, Isabella Salinas, Arthur G Williams, Myoung-Gwi Ryou, Robert T Mallet
Cardiac arrest (CA) and cardiocerebral resuscitation (CCR)-induced ischemia-reperfusion imposes oxidative and carbonyl stress that injures the brain. The ischemic shift to anaerobic glycolysis, combined with oxyradical inactivation of glyceraldehyde 3-phosphate dehydrogenase (GAPDH), provokes excessive formation of the powerful glycating agent, methylglyoxal. The glyoxalase (GLO) system, comprising the enzymes glyoxalase 1 (GLO1) and GLO2, utilizes reduced glutathione (GSH) supplied by glutathione reductase (GR) to detoxify methylglyoxal resulting in reduced protein glycation...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28351027/re-thinking-elective-single-embryo-transfer-increased-risk-of-monochorionic-twinning-a-systematic-review
#14
Margaret Dziadosz, Mark I Evans
BACKGROUND/OBJECTIVES: Multiple pregnancies have tripled in the United States over the past 3 decades. Attributed to increasing maternal age at delivery but more so assisted reproductive technological advances, an effort has been made to decrease twinning through elective single embryo transfer. We sought to review and evaluate risks of monochorionic twinning as a predictable consequence of increasing utilization of elective single embryo transfer on perinatal outcomes. Primary outcomes included twinning rates, fetal anomalies, growth, preterm birth, and mortality...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#15
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#16
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28306687/directly-measured-physical-function-in-cardiac-rehabilitation
#17
Jason L Rengo, Patrick D Savage, Joan C Shaw, Philip A Ades
PURPOSE: The Short Physical Performance Battery (SPPB) is a strong predictor for risk of physical disability in older adults. Roughly half of individuals participating in phase II cardiac rehabilitation (CR) are 65 years or older, many presenting with low aerobic capacities and may be at increased risk for physical disability. METHODS: The cohort consisted of 196 consecutive patients (136 men), aged 65 years or older, entering CR who were prospectively evaluated by the SPPB...
March 15, 2017: Journal of Cardiopulmonary Rehabilitation and Prevention
https://www.readbyqxmd.com/read/28302557/prevalence-and-prognostic-features-of-ecg-abnormalities-in-acute-stroke-findings-from-the-siren-study-among-africans
#18
Abiodun M Adeoye, Okechukwu S Ogah, Bruce Ovbiagele, Rufus Akinyemi, Vincent Shidali, Francis Agyekum, Akinyemi Aje, Oladimeji Adebayo, Joshua O Akinyemi, Philip Kolo, Lambert Tetteh Appiah, Henry Iheonye, Uwanuruochi Kelechukwu, Amusa Ganiyu, Taiwo O Olunuga, Onoja Akpa, Ojo Olakanmi Olagoke, Fred Stephen Sarfo, Kolawole Wahab, Samuel Olowookere, Adekunle Fakunle, Albert Akpalu, Philip B Adebayo, Kwadwo Nkromah, Joseph Yaria, Philip Ibinaiye, Godwin Ogbole, Aridegbe Olumayowa, Sulaiman Lakoh, Benedict Calys-Tagoe, Paul Olowoyo, Chukwuonye Innocent, Hemant K Tiwari, Donna Arnett, Osaigbovo Godwin, Bisi Ayotunde, Josephine Akpalu, Okeke Obiora, Odo Joseph, Adeleye Omisore, Carolyn Jenkins, Daniel Lackland, Lukman Owolabi, Suleiman Isah, Abdu H Dambatta, Morenikeji Komolafe, Andrew Bock-Oruma, Ezinne Sylvia Melikam, Lucius Chidiebere Imoh, Taofiki Sunmonu, Mulugeta Gebregziabher, Oluyemisi Olabisi, Kevin Armstrong, Ugochukwu U Onyeonoro, Emmanuel Sanya, Atinuke M Agunloye, Luqman Ogunjimi, Oyedunni Arulogun, Temitope H Farombi, Olugbo Obiabo, Reginald Obiako, Mayowa Owolabi
BACKGROUND: Africa has a growing burden of stroke with associated high morbidity and a 3-year fatality rate of 84%. Cardiac disease contributes to stroke occurrence and outcomes, but the precise relationship of abnormalities as noted on a cheap and widely available test, the electrocardiogram (ECG), and acute stroke outcomes have not been previously characterized in Africans. OBJECTIVES: The study assessed the prevalence and prognoses of various ECG abnormalities among African acute stroke patients encountered in a multisite, cross-national epidemiologic study...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28295377/time-restricted-feeding-for-prevention-and-treatment-of-cardiometabolic-disorders
#19
Girish C Melkani, Satchidananda Panda
The soaring prevalence of obesity and diabetes is associated with an increase in comorbidities, including elevated risk for cardiovascular diseases (CVD). CVDs continue to be among the leading causes of death and disability in the United States. While increased nutrition intake from an energy dense diet is known to disrupt metabolic homeostasis and contributes to the disease risk, circadian rhythm disruption is emerging as a new risk factor for CVD. Circadian rhythms coordinate cardiovascular health via temporal control of organismal metabolism and physiology...
March 10, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28289524/assessment-of-stable-coronary-artery-disease-by-cardiovascular-magnetic-resonance-imaging-current-and-emerging-techniques
#20
REVIEW
James R J Foley, Sven Plein, John P Greenwood
Coronary artery disease (CAD) is a leading cause of death and disability worldwide. Cardiovascular magnetic resonance (CMR) is established in clinical practice guidelines with a growing evidence base supporting its use to aid the diagnosis and management of patients with suspected or established CAD. CMR is a multi-parametric imaging modality that yields high spatial resolution images that can be acquired in any plane for the assessment of global and regional cardiac function, myocardial perfusion and viability, tissue characterisation and coronary artery anatomy, all within a single study protocol and without exposure to ionising radiation...
February 26, 2017: World Journal of Cardiology
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