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Edward Syndrome

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https://www.readbyqxmd.com/read/28533099/surgical-aortic-valve-replacement-following-early-sapien-xt-valve-failure-a-first
#1
Tanveer Ahmad, Prakash Ludhani, Ronen Gurvitch, John Goldblatt, James Tatoulis
BACKGROUND: Early degeneration of prosthetic aortic valve in transcatheter aortic valve replacement (TAVR) is a rare complication. METHOD: We report the case of a 75-year-old woman who presented with severe calcific stenosis of Edwards SAPIEN-XT valve implanted only four years previously. She is a Jehovah's Witness and has background of Sjogren's syndrome with secondary cryoglobulinaemic vasculitis. She was not a suitable candidate for valve-in-valve TAVR in view of early prosthetic valve failure by calcification...
May 9, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28527976/eagle-syndrome-a-comprehensive-review
#2
REVIEW
Arvind Badhey, Ameya Jategaonkar, Alexander Joseph Anglin Kovacs, Sameep Kadakia, Peter Paul De Deyn, Yadranko Ducic, Stimson Schantz, Edward Shin
The objective of this report is to summarize the symptoms, diagnostic workup, necessary imaging, and management of Eagle syndrome. A comprehensive literature review was conducted on peer-reviewed publications of Eagle syndrome across multiple disciplines in order to gain a thorough understanding of the presentation, diagnosis, and management of this disorder. Diagnoses of Eagle Syndrome have increased, in part due to the awareness of physicians to patient symptomatology. While cervical pain and dysphagia are among the typical symptoms, patients can present with a wide spectrum of benign and dangerous symptoms...
May 6, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28523540/rubinstein-taybi-syndrome-and-epigenetic-alterations
#3
Edward Korzus
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28515112/impact-of-the-metabolic-syndrome-on-mortality-is-modified-by-objective-short-sleep-duration
#4
Julio Fernandez-Mendoza, Fan He, Caitlin LaGrotte, Alexandros N Vgontzas, Duanping Liao, Edward O Bixler
BACKGROUND: To examine whether objective sleep duration is an effect modifier of the impact of metabolic syndrome (MetS) on all-cause and cardiovascular disease/cerebrovascular mortality. METHODS AND RESULTS: We addressed this question in the Penn State Adult Cohort, a random, general population sample of 1344 men and women (48.8±14.2 years) who were studied in the sleep laboratory and followed up for 16.6±4.2 years. MetS was defined by the presence of 3 or more of obesity (≥30 kg/m(2)), elevated total cholesterol (≥200 mg/dL), triglycerides (≥150 mg/dL), fasting glucose (≥100 mg/dL), and blood pressure (≥130/85 mm Hg)...
May 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28502504/high-density-lipoproteins-and-adrenal-steroidogenesis-a-population-based-study
#5
Edward Buitenwerf, Michiel N Kerstens, Thera P Links, Ido P Kema, Robin P F Dullaart
BACKGROUND: Cholesterol trafficked within plasma lipoproteins, in particular high-density lipoproteins (HDL), may represent an important source of cholesterol that is required for adrenal steroidogenesis. Based on a urinary gas chromatography method, compromised adrenal function has been suggested in men but not in women with (genetically determined) low plasma HDL-cholesterol (HDL-C). OBJECTIVE: The objective of the article was to examine the extent to which glucocorticoid production relates to HDL-C in a population-based cohort...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28493010/multiple-long-bone-cysts-revealed-by-mri-in-trichorhinophalangeal-syndrome-type-ii-predisposing-to-pathological-fractures
#6
Praveen Konala, Nigel Kiely, Charlotte Noakes, Edward Blair, Victor N Cassar-Pullicino
Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association...
May 10, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28492457/the-role-of-amantadine-withdrawal-in-3-cases-of-treatment-refractory-altered-mental-status
#7
Leah D Fryml, Kristen R Williams, Christopher G Pelic, James Fox, Gregory Sahlem, Sophie Robert, Gonzalo J Revuelta, Edward Baron Short
Amantadine, which was originally developed as an antiviral medication, functions as a dopamine agonist in the central nervous system and consequently is utilized in the treatment of Parkinson disease, drug-induced extrapyramidal reactions, and neuroleptic malignant syndrome. For reasons that are not entirely understood, abrupt changes in amantadine dosage can produce a severe withdrawal syndrome. Existing medical literature describes case reports of amantadine withdrawal leading to delirium, which at times has progressed to neuroleptic malignant syndrome...
May 2017: Journal of Psychiatric Practice
https://www.readbyqxmd.com/read/28483332/prenatal-phenotype-of-down-syndrome-using-three-dimensional-virtual-reality
#8
Heron Werner, Jorge Roberto Lopes Dos Santos, Gerson Ribeiro, Edward Araujo Júnior
BACKGROUND: Down syndrome is a chromosomal abnormality characterized by an additional acrocentric chromosome, resulting in an aneuploid number of 47 chromosomes (trisomy 21). Fetal face phenotype of Down syndrome is typical in the second trimester and characterized by plane face and a big and protruding tongue. CASE: We present a case of Down syndrome at 29 weeks of gestation in which the fetal face was created using 3-D virtual reality model from 3-D ultrasound scan data...
May 5, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28480791/reversible-cerebral-vasoconstriction-syndrome-secondary-to-caffeine-withdrawal
#9
Dheeraj Kalladka, Aslam Siddiqui, Alok Tyagi, Edward Newman
We describe a 39-year-old man who developed thunderclap headaches during a hospital admission for accidental superficial burns. His magnetic resonance brain imaging was normal expect for diffuse segmental vasoconstriction. Prior to admission, he was consuming excessive amounts of caffeine which was restarted and slowly tapered and stopped over weeks. Repeat magnetic resonance angiogram showed resolution of segmental vasoconstriction. The implications of prescribed and non-prescribed drugs on cerebral vasculature have been discussed...
January 1, 2017: Scottish Medical Journal
https://www.readbyqxmd.com/read/28474983/endoscopic-surgery-for-patients-with-syndromic-craniosynostosis-and-the-requirement-for-additional-open-surgery
#10
David S Hersh, Julie E Hoover-Fong, Natalie Beck, Amir H Dorafshar, Edward S Ahn
OBJECTIVE Recent reports have described early endoscopic suturectomy as a treatment option for patients with syndromic craniosynostosis, but such patients often require subsequent calvarial remodeling. The authors describe their experience with this patient population and seek to identify predictors of sufficiency of endoscopic surgery alone. METHODS The medical records of patients with syndromic craniosynostosis who underwent endoscopic repair were retrospectively reviewed. Demographic data, operative details, and follow-up data were collected...
May 5, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28468151/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#11
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28461798/transcatheter-aortic-valve-implantation-in-a-patient-with-unicuspid-aortic-valve
#12
Angelo Nascimbene, Pranav Loyalka, Igor D Gregoric, Ricardo Bellera, Maan Malahfji, Marija Petrovic, Biswajit Kar
Transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic valves has been successfully performed, but there is a lack of published experience in percutaneous treatment of patients with unicuspid valves and severe aortic stenosis. We describe a case of TAVR in such a patient. A 31-year-old woman with Turner syndrome-who had undergone coarctation repair via subclavian flap at age 7 days and an aortic valvotomy at age 6 weeks-presented with severe symptomatic aortic stenosis. She was deemed inoperable because of her severe pulmonary hypertension and numerous comorbidities; consequently, a 20-mm Edwards Sapien 3 Transcatheter Heart Valve was offered for compassionate use...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28461252/cortisol-in-schizophrenia-no-association-with-tobacco-smoking-clinical-symptoms-or-antipsychotic-medication
#13
Gordana Nedic Erjavec, Suzana Uzun, Matea Nikolac Perkovic, Oliver Kozumplik, Dubravka Svob Strac, Ninoslav Mimica, Mika Hirasawa-Fujita, Edward F Domino, Nela Pivac
Cigarette smoking is associated with higher cortisol levels in healthy subjects. In schizophrenia this relationship is not clear. There are divergent results on the association between cortisol with smoking, clinical symptoms and medication in schizophrenia. This study evaluated this association in 196 Caucasian inpatients with schizophrenia (51.30±26.68years old), subdivided into 123 smokers and 73 non-smokers. Basal salivary cortisol levels were measured twice, at 08.00 and 09.00AM, 90-120min after awakening...
April 28, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28459862/mechanism-of-insulin-resistance-in-a-rat-model-of-kidney-disease-and-the-risk-of-developing-type-2-diabetes
#14
François Dion, Christopher Dumayne, Nathalie Henley, Stéphanie Beauchemin, Edward B Arias, François A Leblond, Sylvie Lesage, Stéphane Lefrançois, Gregory D Cartee, Vincent Pichette
Chronic kidney disease is associated with homeostatic imbalances such as insulin resistance. However, the underlying mechanisms leading to these imbalances and whether they promote the development of type 2 diabetes is unknown. The effect of chronic kidney disease on insulin resistance was studied on two different rat strains. First, in a 5/6th nephrectomised Sprague-Dawley rat model of chronic kidney disease, we observed a correlation between the severity of chronic kidney disease and hyperglycemia as evaluated by serum fructosamine levels (p<0...
2017: PloS One
https://www.readbyqxmd.com/read/28457610/zika-virus-persistence-in-the-central-nervous-system-and-lymph-nodes-of-rhesus-monkeys
#15
Malika Aid, Peter Abbink, Rafael A Larocca, Michael Boyd, Ramya Nityanandam, Ovini Nanayakkara, Amanda J Martinot, Edward T Moseley, Eryn Blass, Erica N Borducchi, Abishek Chandrashekar, Amanda L Brinkman, Katherine Molloy, David Jetton, Lawrence J Tartaglia, Jinyan Liu, Katharine Best, Alan S Perelson, Rafael A De La Barrera, Mark G Lewis, Dan H Barouch
Zika virus (ZIKV) is associated with severe neuropathology in neonates as well as Guillain-Barré syndrome and other neurologic disorders in adults. Prolonged viral shedding has been reported in semen, suggesting the presence of anatomic viral reservoirs. Here we show that ZIKV can persist in cerebrospinal fluid (CSF) and lymph nodes (LN) of infected rhesus monkeys for weeks after virus has been cleared from peripheral blood, urine, and mucosal secretions. ZIKV-specific neutralizing antibodies correlated with rapid clearance of virus in peripheral blood but remained undetectable in CSF for the duration of the study...
May 4, 2017: Cell
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#16
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
#17
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
#18
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
#19
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
#20
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
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