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Cardiac disability

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https://www.readbyqxmd.com/read/29758404/a-prospective-blinded-evaluation-of-a-novel-sensing-methodology-designed-to-reduce-inappropriate-shocks-by-the-subcutaneous-implantable-defibrillator
#1
Dominic A M J Theuns, Tom F Brouwer, Paul Jones, Venugopal Allavatam, Steven Donnelley, Angelo Auricchio, Reinoud E Knops, Martin C Burke
BACKGROUND: The majority of inappropriate shocks from the subcutaneous implantable cardioverter-defibrillator (S-ICD) are caused by cardiac oversensing. A novel sensing methodology, SMART Pass (SP) aims to reduce cardiac oversensing. OBJECTIVE: To evaluate the effect of SP on shocks in ambulatory S-ICD patients. METHODS: Patients implanted in 2015-2016 and on remote monitoring were included and followed for one year. Shocks were adjudicated by three independent, blinded reviewers as appropriate or inappropriate...
May 11, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29754661/catheter-ablation-versus-antiarrhythmic-drug-therapy-for-atrial-fibrillation-cabana-trial-study-rationale-and-design
#2
Douglas L Packer, Daniel B Mark, Richard A Robb, Kristi H Monahan, Tristram D Bahnson, Kathleen Moretz, Jeanne E Poole, Alice Mascette, Yves Rosenberg, Neal Jeffries, Hussein R Al-Khalidi, Kerry L Lee
The Catheter Ablation Versus Anti-arrhythmic Drug Therapy for Atrial Fibrillation (CABANA,NCT00911508)(1) trial is testing the hypothesis that the treatment strategy of percutaneous left atrial catheter ablation for the purpose of eliminating atrial fibrillation (AF) is superior to current state-of-the-art pharmacologic therapy. This international 140-center clinical trial was designed to randomize 2200 patients to a strategy of catheter ablation versus state-of-the-art rate or rhythm control drug therapy. Inclusion criteria include: 1) age> 65, or ≤65 with≥ 1 risk factor for stroke, 2) documented AF warranting treatment, and 3) eligibility for both catheter ablation and≥ 2 anti-arrhythmic or≥ 2 rate control drugs...
May 2018: American Heart Journal
https://www.readbyqxmd.com/read/29751618/a-cost-benefit-analysis-of-an-active-travel-intervention-with-health-and-carbon-emission-reduction-benefits
#3
Ralph Chapman, Michael Keall, Philippa Howden-Chapman, Mark Grams, Karen Witten, Edward Randal, Alistair Woodward
Active travel (walking and cycling) is beneficial for people’s health and has many co-benefits, such as reducing motor vehicle congestion and pollution in urban areas. There have been few robust evaluations of active travel, and very few studies have valued health and emissions outcomes. The ACTIVE before-and-after quasi-experimental study estimated the net benefits of health and other outcomes from New Zealand’s Model Communities Programme using an empirical analysis comparing two intervention cities with two control cities...
May 11, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29748569/a-novel-naa10-variant-with-impaired-acetyltransferase-activity-causes-developmental-delay-intellectual-disability-and-hypertrophic-cardiomyopathy
#4
Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen
The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradation, protein localization and protein-protein interactions. In recent years several X-linked NAA10 variants have been associated with genetic disorders. We have identified a previously undescribed NAA10 c.215T>C p.(Ile72Thr) variant in three boys from two unrelated families with a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants...
May 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29746963/patient-phenotypes-associated-with-outcome-following-surgery-for-mild-degenerative-cervical-myelopathy-a-principal-component-regression-analysis
#5
Jetan H Badhiwala, Christopher Witiw, Farshad Nassiri, Blessing Jaja, Muhammad A Akbar, Alireza Mansouri, Zamir Merali, George M Ibrahim, Jefferson R Wilson, Michael G Fehlings
BACKGROUND CONTEXT: Predictors of outcome after surgery for degenerative cervical myelopathy (DCM) have been determined previously through hypothesis-driven multivariate statistical models that rely on a priori knowledge of potential confounders, exclude potentially important variables due to restrictions in model building, cannot include highly collinear variables in the same model, and ignore intrinsic correlations among variables. PURPOSE: To apply a data-driven approach to identify patient phenotypes that may predict outcomes after surgery for mild DCM...
May 7, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29729156/correlations-between-lipid-metabolism-indices-in-patients-with-hypertension-and-hypothyroidism
#6
Lyubov V Olenych, Lesya I Pylypiv, Nataliya S Bek, Olena M Radchenko
OBJECTIVE: Introduction: Hypertension is a major reason behind morbidity, disability and mortality. Elevated blood pressure is a huge risk factor for cardio-vascular diseases. Almost 90% of hypertension patients have internal comorbidities, in particular hypothyroidism. For now, however, the specificities of the clinical course of hypertension in hypothyroid patients are understudied and the data on lipid metabolism in patients with primary hypothyroidism and hypertension are inconclusive...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29726345/mortality-and-morbidity-in-acutely-ill-adults-treated-with-liberal-versus-conservative-oxygen-therapy-iota-a-systematic-review-and-meta-analysis
#7
Derek K Chu, Lisa H-Y Kim, Paul J Young, Nima Zamiri, Saleh A Almenawer, Roman Jaeschke, Wojciech Szczeklik, Holger J Schünemann, John D Neary, Waleed Alhazzani
BACKGROUND: Supplemental oxygen is often administered liberally to acutely ill adults, but the credibility of the evidence for this practice is unclear. We systematically reviewed the efficacy and safety of liberal versus conservative oxygen therapy in acutely ill adults. METHODS: In the Improving Oxygen Therapy in Acute-illness (IOTA) systematic review and meta-analysis, we searched the Cochrane Central Register of Controlled Trials, MEDLINE, Embase, HealthSTAR, LILACS, PapersFirst, and the WHO International Clinical Trials Registry from inception to Oct 25, 2017, for randomised controlled trials comparing liberal and conservative oxygen therapy in acutely ill adults (aged ≥18 years)...
April 28, 2018: Lancet
https://www.readbyqxmd.com/read/29722511/evidence-based-position-paper-on-physical-and-rehabilitation-medicine-prm-professional-practice-for-people-with-cardiovascular-conditions-the-european-prm-position-uems-prm-section
#8
Alvydas Juocevicius, Aydan Oral, Aet Lukmann, Peter Takáč, Piotr Tederko, Ilze Hāznere, Catarina Aguiar-Branco, Milica Lazovic, Stefano Negrini, Enrique Varela Donoso, Nicolas Christodoulou
INTRODUCTION: Cardiovascular conditions are significant causes of mortality and morbidity leading to substantial disability. AIM: The aim of the paper is to improve Physical and Rehabilitation Medicine (PRM) physicians' professional practice for persons with cardiovascular conditions in order to promote their functioning properties and to reduce activity limitations and/or participation restrictions. MATERIAL AND METHODS: A systematic review of the literature and a Consensus procedure by means of a Delphi process has been performed involving the delegates of all European countries represented in the UEMS PRM Section...
May 2, 2018: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29708407/it-takes-time-building-relationships-and-understanding-through-an-intergenerational-ballet-programme
#9
Shelley E Canning, Michael Gaetz, Darren Blakeborough
Individuals living in long-term residential care homes are often viewed through a negative lens. These residents have increasingly complex care needs, and their functional, communication and cognitive challenges can support conceptualizations of difference and disability perpetuating negative stereotypes of age and dementia. However, engaging in meaningful activities and relationships with older adults, including those with dementia, has been shown to promote positive attitudes. Specifically, intergenerational programming that provides opportunities for meaningful engagement between children and older adults has been shown to support positive emotional experiences through socializing and building relationships...
January 1, 2018: Dementia
https://www.readbyqxmd.com/read/29704693/cardiac-arrest-during-spine-surgery-in-the-prone-position-case-report-and-review-of-the-literature
#10
REVIEW
Victor E Staartjes, Shiva A Schillevoort, Patricia G Blum, J Peter van Tintelen, Wouter E Kok, Marc L Schröder
OBJECTIVE: Intraoperative cardiac arrest (CA) is usually attributable to pre-existing disease, or to intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It is essential that neurosurgeons are aware of the etiologies, risk factors, and initial management of CA during surgery in the prone position. METHODS: We present a case of CA directly after spinal fusion for lumbar spondylolisthesis, and review the literature on cardiac arrests during spinal neurosurgery in the prone position...
April 26, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29701428/anaesthetic-management-in-a-duchennne-muscle-dystrophy-patient-for-treatment-of-recurrent-pneumothorax
#11
Sara Mota, Liuba Germanova, Joana Cortesão, Teresa Paiva
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an x linked recessive disorder. Long term prognosis is ominous, with development of respiratory distress and cardiomyopathy in advanced stage of the disease and expected death in the teens-to-mid 20s due to respiratory or cardiac failure. Peri-operative management of this patients is challenging due to difficult airway anatomy (macroglossia, limited neck and mandibular mobility). Additionally, they are at risk of developing malignant hyperthermia, rhabdomyolysis and hyperkalemic cardiac arrest when exposed to halogenated inhalational anaesthetics and depolarizing muscle relaxants...
July 2017: Revista Portuguesa de Cirurgia Cardio-torácica e Vascular
https://www.readbyqxmd.com/read/29693140/mir%C3%A2-149-promotes-the-myocardial-differentiation-of-mouse-bone-marrow-stem-cells-by-targeting-dab2
#12
Mingjun Lu, Lingling Xu, Min Wang, Tao Guo, Fuquan Luo, Nan Su, Shanghui Yi, Tao Chen
To investigate the role of microRNA (miR)‑149 in the cardiac differentiation of mouse bone marrow mesenchymal stem cells (MSCs) in vitro, MSCs were infected with a lentivirus overexpressing miR‑149 and the effect on cardiac differentiation was determined. The quantitative polymerase chain reaction results demonstrated that miR‑149 promoted the expression of cardiac‑specific markers in MSCs. Western blotting and a luciferase activity assay demonstrated that disabled homolog 2 (Dab2) was a direct target of miR‑149...
April 19, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29665190/comparison-of-emergency-medicine-malpractice-cases-involving-residents-to-non-resident-cases
#13
Kiersten L Gurley, Shamai A Grossman, Margaret Janes, C Winnie Yu-Moe, Ellen Song, Carrie D Tibbles, Nathan I Shapiro, Carlo L Rosen
BACKGROUND: Data are lacking on how emergency medicine (EM) malpractice cases with resident involvement differs from cases that do not name a resident. OBJECTIVES: To compare malpractice case characteristics in cases where a resident is involved (resident case) to cases that do not involve a resident (non-resident case) and to determine factors that contribute to malpractice cases utilizing EM as a model for malpractice claims across other medical specialties. METHODS: We used data from the Controlled Risk Insurance Company (CRICO) Strategies' division Comparative Benchmarking System (CBS) to analyze open and closed EM cases asserted from 2009-2013...
April 17, 2018: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29662739/decompression-in-adult-lumbar-deformity-surgery-is-associated-with-increased-perioperative-complications-but-favorable-long-term-outcomes
#14
Isaac O Karikari, Keith H Bridwell, Aladine A Elsamadicy, Lawrence G Lenke, Patrick Sugrue, David Bumpass, Azeem Ahmad, Jeffrey Gum
Study Design: Retrospective cohort study. Objectives: To analyze the impact of performing a formal decompression in patients with adult lumbar scoliosis with symptomatic spinal stenosis on perioperative complications and long-term outcomes. Methods: Adult patients undergoing at least 5 levels of fusion to the sacrum with iliac fixation from 2002 to 2008 who had a minimum 5-year follow-up at one institution were studied. Patients who had 3-column osteotomy were excluded from the study...
April 2018: Global Spine Journal
https://www.readbyqxmd.com/read/29658801/the-effects-of-tandem-skiing-on-posture-and-heart-rate-in-children-with-profound-intellectual-and-multiple-disabilities
#15
F Degache, A Bonjour, D Michaud, L Mondada, C J Newman
PURPOSE: The objective of study was to determine the effect of tandem ski (TS) activity on postural control and cardiac activity in children with profound intellectual and multiple disabilities (PIMDs). METHOD: Twenty children with PIMD and 20 age-matched controls (typically developed (TD) children) participated. Body segment movements were measured with inertial sensors (Physilog®) placed on the head, C7, trunk (including ECG) and pelvis with a seat reference...
April 16, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#16
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29655662/evaluation-of-low-intensity-anti-coagulation-with-a-fully-magnetically-levitated-centrifugal-flow-circulatory-pump-the-magentum-1-study
#17
Ivan Netuka, Peter Ivák, Zuzana Tučanová, Stanislav Gregor, Ondrej Szárszoi, Poornima Sood, Daniel Crandall, Jessica Rimsans, Jean Marie Connors, Mandeep R Mehra
BACKGROUND: The HeartMate 3 left ventricular assist system is engineered to avoid pump thrombosis, yet bleeding complications persist. We investigated the safety of low-intensity anti-coagulation in patients with the HeartMate 3. METHODS: The Minimal AnticoaGulation EvaluatioNTo aUgment heMocompatibility (MAGENTUM 1) pilot study is a prospective, single-arm study of low-intensity warfarin anti-coagulation in patients implanted with the HeartMate 3 pump. After standard warfarin anti-coagulation (international normalized ratio [INR] 2...
March 27, 2018: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29630129/a-meta-analysis-of-pharmacological-neuroprotection-in-noncardiac-surgery-focus-on-statins-lidocaine-ketamine-and-magnesium-sulfate
#18
Z-W Zeng, Y-N Zhang, W-X Lin, W-Q Zhang, R Luo
OBJECTIVE: Non-cardiac surgery is associated with perioperative cerebral complications (delirium, postoperative cognition dysfunction, stroke). While rare, these complications can lead to disabilities and deaths. Information is ambiguous as to whether pharmacological preoperative treatment exerts neuroprotection. We wished to systematically assess potential modulation by statins, lidocaine, ketamine or magnesium sulfate of the relative risk of cerebral complications in noncardiac surgery...
March 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29611295/cutis-laxa-in-a-patient-with-1p36-deletion-syndrome
#19
Zhen Zhang, Jian Wang, Niu Li, Ruen Yao, Ji Chen
Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa...
April 3, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29604340/a-case-of-pitt-hopkins-syndrome-with-de-novo-mutation-in-tcf4-clinical-features-and-treatment-for-epilepsy
#20
Yedan Liu, Ya Guo, Peipei Liu, Fei Li, Chengqing Yang, Jie Song, Jingfei Hu, Dandan Xin, Zongbo Chen
Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of themwith a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings...
March 28, 2018: International Journal of Developmental Neuroscience
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