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Edward Syndrome

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https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#1
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28444780/fetal-brain-injury-in-complicated-monochorionic-pregnancies-diagnostic-yield-of-prenatal-mri-following-surveillance-ultrasound-and-influence-on-prognostic-counselling
#2
Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen
OBJECTIVE: To determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations (cMCGs) METHODS: Women with cMCGs complicated by twin - twin transfusion syndrome (TTTS), co-twin demise (CD), selective intrauterine growth restriction (sIUGR), and / or twin anemia - polycythemia sequence (TAPS) who were referred for pMRI after tertiary US were included...
April 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28444639/metformin-and-prostate-cancer-a-new-role-for-an-old-drug
#3
REVIEW
Jessica Whitburn, Claire M Edwards, Prasanna Sooriakumaran
PURPOSE OF REVIEW: Since epidemiological studies first demonstrated a potential positive effect of metformin in reducing cancer incidence and mortality, there has been an increased interest in not only better understanding metformin's mechanisms of action but also in exploring its potential anti-cancer effects. In this review, we aim to summarise the current evidence exploring a role for metformin in prostate cancer therapy. RECENT FINDINGS: Preclinical studies have demonstrated a number of antineoplastic biological effects via a range of molecular mechanisms...
June 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28435484/outcomes-by-mode-of-transport-of-st-elevation-mi-patients-in-the-united-arab-emirates
#4
Edward L Callachan, Alawi A Alsheikh-Ali, Satish Chandrasekhar Nair, Stevan Bruijns, Lee A Wallis
INTRODUCTION: The purpose of this multicenter study was to assess differences in demographics, medical history, treatment times, and follow-up status among patients with ST-elevation myocardial infarction (STEMI), who were transported to the hospital by emergency medical services (EMS) or by private vehicle, or were transferred from other medical facilities. METHODS: This multicenter study involved the collection of both retrospective and prospective data from 455 patients admitted to four hospitals in Abu Dhabi...
April 2017: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28431376/trichobezoar-presenting-as-a-gastric-outlet-obstruction-a-case-report
#5
Eugene Nwankwo, Edward Daniele, Erin Woller, John Fitzwater, Thomas McGill, Steven E Brooks
INTRODUCTION: Rapunzel syndrome is a rare intestinal condition that starts with the ingestion of a trichobezoar. The condition is predominately found in females and can be associated with trichotillomania, or the compulsive urge to pull one's own hair out. There are less than 40 cases described in the literature with the prevention of recurrence aimed at psychological treatment. PRESENTATION OF CASE: The patient is a 7 year-old girl with a history of trichotillomania with trichophagia as a young child who presented with abdominal pain, nausea, and vomiting, consistent with a gastric outlet obstruction...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28424263/the-kielin-chordin-like-protein-kcp-attenuates-high-fat-diet-induced-obesity-and-metabolic-syndrome-in-mice
#6
Abdul Soofi, Katherine I Wolf, Margo P Emont, Nathan Qi, Gabriel Martinez-Santibanez, Edward Grimley, Wesam Ostwani, Gregory R Dressler
Obesity and its associated complications, such as insulin resistance and non-alcoholic fatty liver disease, are reaching epidemic proportions. In mice, the TGF-beta superfamily is implicated in the regulation of white and brown adipose tissue differentiation. The Kielin/chordin-like Protein (KCP) is a secreted regulator of the TGF-beta superfamily pathways that can inhibit both TGF-beta and activin signals while enhancing bone morphogenetic protein (BMP) signaling. However, KCP's effects on metabolism and obesity have not been studied in animal models...
April 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28421588/takotsubo-syndrome-after-pericardial-tamponade-following-cryoballoon-ablation-of-pulmonary-veins-for-paroxysmal-atrial-fibrillation-and-complicated-by-right-coronary-artery-thrombosis
#7
Jarosław Hiczkiewicz, Edward Koźluk, Katarzyna Łojewska, Jan Budzianowski, Rafał Zimoląg, Łukasz Grydz, Robert Sabiniewicz
No abstract text is available yet for this article.
2017: Cardiology Journal
https://www.readbyqxmd.com/read/28418520/rapid-rule-out-of-acute-myocardial-infarction-with-a-single-high-sensitivity-cardiac-troponin-t-measurement-below-the-limit-of-detection-a-collaborative-meta-analysis
#8
John W Pickering, Martin P Than, Louise Cullen, Sally Aldous, Ewoud Ter Avest, Richard Body, Edward W Carlton, Paul Collinson, Anne Marie Dupuy, Ulf Ekelund, Kai M Eggers, Christopher M Florkowski, Yonathan Freund, Peter George, Steve Goodacre, Jaimi H Greenslade, Allan S Jaffe, Sarah J Lord, Arash Mokhtari, Christian Mueller, Andrew Munro, Sebbane Mustapha, William Parsonage, W Frank Peacock, Christopher Pemberton, A Mark Richards, Juan Sanchis, Lukas P Staub, Richard Troughton, Raphael Twerenbold, Karin Wildi, Joanna Young
Background: High-sensitivity assays for cardiac troponin T (hs-cTnT) are sometimes used to rapidly rule out acute myocardial infarction (AMI). Purpose: To estimate the ability of a single hs-cTnT concentration below the limit of detection (<0.005 µg/L) and a nonischemic electrocardiogram (ECG) to rule out AMI in adults presenting to the emergency department (ED) with chest pain. Data Sources: EMBASE and MEDLINE without language restrictions (1 January 2008 to 14 December 2016)...
April 18, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28413748/thiamine-assays-advances-challenges-and-caveats
#9
REVIEW
Katie A Edwards, Nicole Tu-Maung, Krystal Cheng, Binbin Wang, Antje J Baeumner, Clifford E Kraft
Thiamine (vitamin B1) is essential to the health of all living organisms and deficiency has long been associated with diseases in animals such as fish, birds, alligators, and domesticated ruminant mammals. Thiamine is also implicated in several human diseases including Alzheimer's, diabetes, dementia, depression and, most notably, Wernicke-Korsakoff syndrome and Beriberi disease. Yet, highly sensitive and specific detection of thiamine remains an analytical challenge, as pM to nm levels of thiamine need to be detected in environmental and human samples, respectively, various phosphorylated variants need to be discriminated, and rapid on-site detection would be highly desirable...
April 2017: ChemistryOpen
https://www.readbyqxmd.com/read/28409853/a-phase-1-study-of-the-cxcr4-antagonist-plerixafor-in-combination-with-high-dose-cytarabine-and-etoposide-in-children-with-relapsed-or-refractory-acute-leukemias-or-myelodysplastic-syndrome-a-pediatric-oncology-experimental-therapeutics-investigators-consortium
#10
Todd M Cooper, Edward Allan Racela Sison, Sharyn D Baker, Lie Li, Amina Ahmed, Tanya Trippett, Lia Gore, Margaret E Macy, Aru Narendran, Keith August, Michael J Absalon, Jessica Boklan, Jessica Pollard, Daniel Magoon, Patrick A Brown
BACKGROUND: Plerixafor, a reversible CXCR4 antagonist, inhibits interactions between leukemic blasts and the bone marrow stromal microenvironment and may enhance chemosensitivity. A phase 1 trial of plerixafor in combination with intensive chemotherapy in children and young adults with relapsed or refractory acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS) was performed to determine a tolerable and biologically active dose. PROCEDURE: Plerixafor was administered daily for 5 days at four dose levels (6, 9, 12, and 15 mg/m(2) /dose) followed 4 hr later by high-dose cytarabine (every 12 hr) and etoposide (daily)...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28407018/correction-detrimental-elavl-1-hur-dependent-gsk3%C3%AE-mrna-stabilization-impairs-resolution-in-acute-respiratory-distress-syndrome
#11
Olivia Hoffman, Nana Burns, István Vadász, Holger K Eltzschig, Michael G Edwards, Christine U Vohwinkel
[This corrects the article DOI: 10.1371/journal.pone.0172116.].
2017: PloS One
https://www.readbyqxmd.com/read/28399838/association-of-nutrition-club-membership-with-markers-of-health-a-cross-sectional-study
#12
Sai Krupa Das, Taylor A Vail, Namibia Lebrón-Torres, Kara A Livingston, Susan B Roberts, Gail T Rogers, Cheryl H Gilhooly, Lorien E Urban, Edward Saltzman, Nicola M McKeown, Sara C Folta
BACKGROUND: Nutrition clubs (NC) operate in community settings and provide members with nutrition education and meal replacements for weight management. NC are owned and operated by distributors of Herbalife products. There are over 6200 NC in the US, but there has been no independent assessment of the association of these NC with biomarkers of health. METHODS: We conducted a cross-sectional pilot study to compare the health status of 100 NC members to 100 community-matched controls (CC) in the greater Boston area...
April 11, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28395984/efficacy-of-manual-therapy-including-neurodynamic-techniques-for-the-treatment-of-carpal-tunnel-syndrome-a-randomized-controlled-trial
#13
Tomasz Wolny, Edward Saulicz, Paweł Linek, Michael Shacklock, Andrzej Myśliwiec
OBJECTIVE: The purpose of this randomized trial was to compare the efficacy of manual therapy, including the use of neurodynamic techniques, with electrophysical modalities on patients with mild and moderate carpal tunnel syndrome (CTS). METHODS: The study included 140 CTS patients who were randomly assigned to the manual therapy (MT) group, which included the use of neurodynamic techniques, functional massage, and carpal bone mobilizations techniques, or to the electrophysical modalities (EM) group, which included laser and ultrasound therapy...
April 8, 2017: Journal of Manipulative and Physiological Therapeutics
https://www.readbyqxmd.com/read/28393777/methylene-blue-for-postcardiopulmonary-bypass-vasoplegic-syndrome-a-cohort-study
#14
Michael Mazzeffi, Benjamin Hammer, Edward Chen, Mark Caridi-Scheible, James Ramsay, Christopher Paciullo
BACKGROUND: Methylene blue (MB) has been used to treat refractory hypotension in a variety of settings. AIMS: We sought to determine whether MB improved blood pressure in postcardiopulmonary bypass (CPB) vasoplegic syndrome (VS) in a complex cardiac surgery population. Furthermore, to determine variables that predicted response to MB. SETTING AND DESIGN: This was conducted in a tertiary care medical center; this study was a retrospective cohort study...
April 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28392801/metabolic-syndrome-in-people-living-with-human-immunodeficiency-virus-an-assessment-of-the-prevalence-and-the-agreement-between-diagnostic-criteria
#15
Kim Anh Nguyen, Nasheeta Peer, Anniza de Villiers, Barbara Mukasa, Tandi E Matsha, Edward J Mills, Andre Pascal Kengne
Objectives. We determined metabolic syndrome (MetS) prevalence and assessed the agreement between different diagnostic criteria in HIV-infected South Africans. Method. A random sample included 748 HIV-infected adult patients (79% women) across 17 HIV healthcare facilities in the Western Cape Province. MetS was defined using the Joint Interim Statement (JIS 2009), International Diabetes Federation (IDF 2005), and Adult Treatment Panel III (ATPIII 2005) criteria. Results. Median values were 38 years (age), 5 years (diagnosed HIV duration), and 392 cells/mm(3) (CD4 count), and 93% of the participants were on antiretroviral therapy (ART)...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28348478/portal-hypertension-imaging-of-portosystemic-collateral-pathways-and-associated-image-guided-therapy
#16
REVIEW
Murad Feroz Bandali, Anirudh Mirakhur, Edward Wolfgang Lee, Mollie Clarke Ferris, David James Sadler, Robin Ritchie Gray, Jason Kam Wong
Portal hypertension is a common clinical syndrome, defined by a pathologic increase in the portal venous pressure. Increased resistance to portal blood flow, the primary factor in the pathophysiology of portal hypertension, is in part due to morphological changes occurring in chronic liver diseases. This results in rerouting of blood flow away from the liver through collateral pathways to low-pressure systemic veins. Through a variety of computed tomographic, sonographic, magnetic resonance imaging and angiographic examples, this article discusses the appearances and prevalence of both common and less common portosystemic collateral channels in the thorax and abdomen...
March 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28342442/comparison-of-qsofa-and-sirs-for-predicting-adverse-outcomes-of-patients-with-suspicion-of-sepsis-outside-the-intensive-care-unit
#17
Eli J Finkelsztein, Daniel S Jones, Kevin C Ma, Maria A Pabón, Tatiana Delgado, Kiichi Nakahira, John E Arbo, David A Berlin, Edward J Schenck, Augustine M K Choi, Ilias I Siempos
BACKGROUND: The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3) Task Force recently introduced a new clinical score termed quick Sequential (Sepsis-related) Organ Failure Assessment (qSOFA) for identification of patients at risk of sepsis outside the intensive care unit (ICU). We attempted to compare the discriminatory capacity of the qSOFA versus the Systemic Inflammatory Response Syndrome (SIRS) score for predicting mortality, ICU-free days, and organ dysfunction-free days in patients with suspicion of infection outside the ICU...
March 26, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28335382/feasibility%C3%A2-of%C3%A2-assessing%C3%A2-diet%C3%A2-with%C3%A2-a%C3%A2-mobile%C3%A2-food%C3%A2-record%C3%A2-for%C3%A2-adolescents%C3%A2-and%C3%A2-young%C3%A2-adults%C3%A2-with%C3%A2-down%C3%A2-syndrome
#18
Katherine E Bathgate, Jill L Sherriff, Helen Leonard, Satvinder S Dhaliwal, Edward J Delp, Carol J Boushey, Deborah A Kerr
Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244)...
March 13, 2017: Nutrients
https://www.readbyqxmd.com/read/28333238/clustering-of-pcos-like-traits-in-naturally-hyperandrogenic-female-rhesus-monkeys
#19
D H Abbott, B H Rayome, D A Dumesic, K C Lewis, A K Edwards, K Wallen, M E Wilson, S E Appt, J E Levine
STUDY QUESTION: Do naturally occurring, hyperandrogenic (≥1 SD of population mean testosterone, T) female rhesus monkeys exhibit traits typical of women with polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: Hyperandrogenic female monkeys exhibited significantly increased serum levels of androstenedione (A4), 17-hydroxyprogesterone (17-OHP), estradiol (E2), LH, antimullerian hormone (AMH), cortisol, 11-deoxycortisol and corticosterone, as well as increased uterine endometrial thickness and evidence of reduced fertility, all traits associated with PCOS...
April 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28331502/a-qualitative-exploration-of-the-experiences-of-children-and-adolescents-with-tourette-syndrome
#20
Kim R Edwards, Sandra Mendlowitz, Elana Jackson, Claire Champigny, Matt Specht, Paul Arnold, Daniel Gorman, Gina Dimitropoulos
OBJECTIVE: The purpose of this qualitative study was to explore the experiences of youth with Tourette Syndrome (TS). METHOD: Thirteen participants with TS were recruited from a large tertiary care hospital to complete semi-structured interviews and two questionnaires pertaining to demographic information and tic severity. Thematic analysis was utilized to systematically analyze the data. RESULTS: Three main themes were identified: 1) beliefs about TS; 2) TS related distress and impairment; and, 3) coping with TS...
2017: Journal of the Canadian Academy of Child and Adolescent Psychiatry
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