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https://www.readbyqxmd.com/read/28716868/solitary-fibrous-tumour-a-rare-tumour-of-the-pleural-cavity
#1
Ronit Bar-Haim, Alexe Gavrilov, Alexander Samokhvalov, Edward Altman
Solitary fibrous tumours are a rare group of tumours that originate from connective tissues such as the pleura and mediastinum. When growing within the thoracic cavity these tumours exert pressure on vital organs and large vessels. We have successfully operated on two patients with large solitary fibrous tumours and managed the pathophysiological changes manifested as superior vena cava syndrome resulting from these tumours.
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28697030/severe-postpartum-headache-and-hypertension-caused-by-reversible-cerebral-vasoconstriction-syndrome-a-case-report
#2
Ed McIlroy, Rajamani Sethuraman, Reshma Woograsingh, Catherine Nelson-Piercy, Edward Gilbert-Kawai
Reversible cerebrovascular vasoconstriction syndrome is an uncommon condition that presents as severe headache and hypertension. Recent literature suggests a 1% incidence in postpartum headache cases. It can cause subarachnoid hemorrhages, cerebral ischemia, and seizures. It is often misdiagnosed as postdural puncture headache or preeclampsia. In this case, a postpartum woman, who had received epidural anesthesia for labor, presented 5 days postpartum with severe headache that did not resolve with an epidural blood patch...
July 10, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28692793/rare-x-chromosome-abnormalities-in-systemic-lupus-erythematosus-and-sj%C3%A3-gren-s-syndrome
#3
Rohan Sharma, Valerie M Harris, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Anum Fayaaz, Kaustubh S Chaudhari, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcon-Riquelme, Xavier Mariette, Christopher J Lessard, John B Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L Sivils, R Hal Scofield
BACKGROUND: Sjögren's syndrome and systemic lupus erythematosus (SLE) are related by clinical and serological manifestations as well as genetic risks. Both diseases are more commonly found in women compared to men at a ratio of about 10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease suggesting a dose effect on the X chromosome. METHODS: We examined cohorts of Sjögren's syndrome or SLE patients with intensity plots of X chromosome single nucleotide polymorphism (SNP) alleles along with karyotype of selected subjects...
July 10, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28687711/the-optimal-timing-of-stage-2-palliation-for-hypoplastic-left-heart-syndrome-an-analysis-of-the-pediatric-heart-network-single-ventricle-reconstruction-trial-public-dataset
#4
James M Meza, Edward J Hickey, Eugene H Blackstone, Robert D B Jaquiss, Brett R Anderson, William G Williams, Sally Cai, Glen S Van Arsdell, Tara Karamlou, Brian W McCrindle
Background -In infants requiring three-stage single ventricle palliation for hypoplastic left heart syndrome, attrition after the Norwood procedure remains significant. The effect of the timing of stage-2-palliation (S2P), a physician-modifiable factor, on long term survival is not well understood. We hypothesized that an optimal interval between the Norwood and S2P that both minimizes pre-S2P attrition and maximizes post-S2P survival exists and is associated with individual patient characteristics. Methods -The NIH/NHLBI Pediatric Heart Network Single Ventricle Reconstruction Trial public dataset was used...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28686127/effectiveness-of-surgical-revascularization-for-stroke-prevention-in-pediatric-patients-with-sickle-cell-disease-and-moyamoya-syndrome
#5
Wuyang Yang, Risheng Xu, Jose L Porras, Clifford M Takemoto, Syed Khalid, Tomas Garzon-Muvdi, Justin M Caplan, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Judy Huang, Edward S Ahn
OBJECTIVE Sickle cell disease (SCD) in combination with moyamoya syndrome (MMS) represents a rare complication of SCD, with potentially devastating neurological outcomes. The effectiveness of surgical revascularization in this patient population is currently unclear. The authors' aim was to determine the effectiveness of surgical intervention in their series of SCD-MMS patients by comparing stroke recurrence in those undergoing revascularization and those undergoing conservative transfusion therapy. METHODS The authors performed a retrospective chart review of patients with MMS who were seen at the Johns Hopkins Medical Institution between 1990 and 2013...
July 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28685259/extremely-large-sinus-pericranii-with-involvement-of-the-torcular-and-associated-with-crouzon-s-syndrome
#6
Felipe H Sanders, Bryan A Edwards, Matthew Fusco, Rod J Oskouian, R Shane Tubbs, James M Johnston
INTRODUCTION: Sinus pericranii is a rare vascular malformation that connects the intracranial dural sinuses to the extracranial venous drainage system and is caused by either trauma or congenital defects. Although the majority of these vascular structures are due to trauma, some are congenital. CASE REPORT: Herein, we report a 5-month-old patient with a very large and fluctuating subcutaneous mass over the occiput and the diagnosis of Crouzon's syndrome. The child presented with a large midline mass that on imaging, connected to the underlying torcular and was diagnosed as a sinus pericranii...
July 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28678425/semi-automated-scoring-of-triple-probe-fish-in-human-sperm-using-confocal-microscopy
#7
Francesca Branch, GiaLinh Nguyen, Nicholas Porter, Heather A Young, Sheena E Martenies, Nathan McCray, Glen Deloid, Anastas Popratiloff, Melissa J Perry
Structural and numerical sperm chromosomal aberrations result from abnormal meiosis and are directly linked to infertility. Any live births that arise from aneuploid conceptuses can result in syndromes such as Kleinfelter, Turners, XYY and Edwards. Multi-probe fluorescence in situ hybridization (FISH) is commonly used to study sperm aneuploidy, however manual FISH scoring in sperm samples is labor-intensive and introduces errors. Automated scoring methods are continuously evolving. One challenging aspect for optimizing automated sperm FISH scoring has been the overlap in excitation and emission of the fluorescent probes used to enumerate the chromosomes of interest...
July 5, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28675079/cochlear-nerve-aplasia-and-hypoplasia-predictors-of-cochlear-implant-success
#8
Kevin A Peng, Edward C Kuan, Suzannah Hagan, Eric P Wilkinson, Mia E Miller
Objective To identify factors predicting performance outcomes following cochlear implantation in patients with cochlear nerve aplasia or hypoplasia. Data Sources Individual patient data extracted from published case series and reports. Review Methods The MEDLINE database, Cochrane Library, Embase, Web of Science, and Google Scholar were queried for "cochlear implant" in conjunction with "aplasia" or "hypoplasia" between 1985 and 2015. Eighteen studies were included describing 97 subjects with individual postimplant auditory data...
July 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28674027/increasing-use-of-allogeneic-hematopoietic-cell-transplantation-in-patients-age-70-years-and-older-in-the-united-states
#9
Lori Muffly, Marcelo C Pasquini, Michael Martens, Ruta Brazauskas, Xiaochun Zhu, Kehinde Adekola, Mahmoud Aljurf, Karen K Ballen, Ashish Bajel, Frederic Baron, Minoo Battiwalla, Amer Beitinjaneh, Jean-Yves Cahn, Mathew Carabasi, Yi-Bin Chen, Saurabh Chhabra, Stefan Ciurea, Edward Copelan, Anita D'Souza, John Edwards, James Foran, Cesar O Freytes, Henry C Fung, Robert Peter Gale, Sergio Giralt, Shahrukh K Hashmi, Gerhard C Hildebrandt, Vincent Ho, Ann Jakubowski, Hillard Lazarus, Marlise R Luskin, Rodrigo Martino, Richard Maziarz, Philip McCarthy, Taiga Nishihori, Rebecca Olin, Richard F Olsson, Attaphol Pawarode, Edward Peres, Andrew R Rezvani, David Rizzieri, Bipin N Savani, Harry C Schouten, Mitchell Sabloff, Matthew Seftel, Sachiko Seo, Mohamed L Sorror, Jeff Szer, Baldeep M Wirk, William A Wood, Andrew Artz
PURPOSE: To evaluate trends and outcomes of allogeneic HCT in adults ≥70 years with hematologic malignancies across the United States (US). PATIENTS AND METHODS: Adults 70 years and older with a hematologic malignancy undergoing first allogeneic HCT in the US between 2000 and 2013 and reported to the CIBMTR were eligible. Transplant utilization and transplant outcomes including overall survival (OS), progression-free survival (PFS), and transplant-related mortality (TRM) were studied...
July 3, 2017: Blood
https://www.readbyqxmd.com/read/28671863/rethinking-the-paradigm-modern-approach-to-proximal-aortic-reconstruction-demonstrates-excellent-outcomes
#10
Jonathan M Hemli, Edward R R DeLaney, Kush R Dholakia, Dror Perk, Nirav C Patel, S Jacob Scheinerman, Derek R Brinster
BACKGROUND: Techniques for aortic surgery continue to evolve. A real-world snapshot of patients undergoing elective surgery for aneurysm in the modern era is helpful to assist in deciding the appropriate timing for intervention. We herein describe our experience with 100 consecutive patients who underwent primary elective surgery for aneurysm of the proximal thoracic aorta over a two-year period at a single institution. METHODS: The majority of our patients were male, mean age 61...
June 20, 2017: Heart Surgery Forum
https://www.readbyqxmd.com/read/28669633/the-n-terminal-region-of-fibrillin-1-mediates-a-bipartite-interaction-with-ltbp1
#11
Ian B Robertson, Hans F Dias, Isabelle H Osuch, Edward D Lowe, Sacha A Jensen, Christina Redfield, Penny A Handford
Fibrillin-1 (FBN1) mutations associated with Marfan syndrome lead to an increase in transforming growth factor β (TGF-β) activation in connective tissues resulting in pathogenic changes including aortic dilatation and dissection. Since FBN1 binds latent TGF-β binding proteins (LTBPs), the major reservoir of TGF-β in the extracellular matrix (ECM), we investigated the structural basis for the FBN1/LTBP1 interaction. We present the structure of a four-domain FBN1 fragment, EGF2-EGF3-Hyb1-cbEGF1 (FBN1(E2cbEGF1)), which reveals a near-linear domain organization...
June 21, 2017: Structure
https://www.readbyqxmd.com/read/28669506/risk-factors-for-late-aortic-valve-dysfunction-after-the-david-v-valve-sparing-root-replacement
#12
Jiro Esaki, Bradley G Leshnower, Jose N Binongo, Yi Lasanajak, LaRonica McPherson, Robert A Guyton, Edward P Chen
BACKGROUND: Valve-sparing root replacement (VSRR) is an established therapy for aortic root pathology. However, late aortic valve dysfunction requiring reoperation remains a primary concern of this procedure. This study examines risk factors for late aortic insufficiency (AI) and aortic stenosis (AS) after David V VSRR. METHODS: A retrospective review from 2005 to 2015 at a US academic center identified 282 patients who underwent VSRR. Cox proportional hazards regression analysis was used to identify risk factors for late AI and AS after VSRR...
June 29, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28662008/-evaluation-of-oxidative-reduction-markers-of-blood-in-patients-with-acute-coronary-syndromes-acs-subjected-to-cardiac-rehabilitation
#13
Anna Mejer-Barczewska, Joanna Kapusta, Małgorzata Godala, Edward Kowalczyk, Robert Irzmański, Jan Kowalski
Role in the pathogenesis of atherosclerosis play a reactive oxygen species. In the case of disturbance of dynamic balance between their production and antioxidant defense mechanisms comes to undesirable consequences - oxidative stress. Excessive exercise can, among others, disrupting the balance. AIM: The aim of the study was to evaluate the exponents of the processes of oxidation - reduction of blood in patients with ACS undergoing rehabilitation in a hospital setting. MATERIALS AND METHODS: The study included 25 patients after ACS STEMI, including 19 men and 6 women, aged 51...
June 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28661491/informed-decision-making-and-psychosocial-outcomes-in-pregnant-and-nonpregnant-women-offered-population-fragile-x-carrier-screening
#14
Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Grad Dip Gen Couns, Rob Carter, Jonathan Cohen, Megan Cotter, M GenCouns, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, PGrad Dip Educ, Grad Dip Gen Couns, Robin Forbes, Grad Dip Gen Couns, Mioara Gavrila, M MedSci, Jane Halliday, Chriselle Hickerton, Melissa Hill, Grad Dip Gen Couns, Lorilli Jacobs, PGrad Dip Ultrasound, Vicki Petrou, Grad Dip Gen Couns, Loren Plunkett, M GenCouns, Leslie Sheffield, F Racp, Alison Thornton, Grad Dip Gen Couns, Sandra Younie, PGrad Dip Hlth Econ, Jon D Emery
PurposePopulation-based carrier screening for fragile X syndrome (FXS) is still not universally endorsed by professional organizations due to concerns around genetic counseling for complex information and potential for psychosocial harms.MethodsWe determined uptake levels, decision making, and psychosocial impact in a prospective study of pregnant and nonpregnant Australian women offered FXS carrier screening in clinical settings. Women received pretest genetic counseling, and completed questionnaires when deciding and one month later...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28648511/disorder-of-thyroid-hormone-transport-into-the-tissues
#15
REVIEW
Stefan Groeneweg, W Edward Visser, Theo J Visser
Transport of thyroid hormone (TH) across the plasma membrane is essential for intracellular TH metabolism and action, and this is mediated by specific transporter proteins. During the last two decades several transporters capable of transporting TH have been identified, including monocarboxylate transporter 8 (MCT8), MCT10 and organic anion transporting polypeptide 1C1 (OATP1C1). In particular MCT8 and OATP1C1 are important for the regulation of local TH activity in the brain and thus for brain development...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647272/outcomes-of-preterm-infants-following-discussions-about-withdrawal-or-withholding-of-life-support
#16
Jennifer James, David Munson, Sara B DeMauro, John C Langer, April R Dworetz, Girija Natarajan, Margarita Bidegain, Christine A Fortney, Ruth Seabrook, Betty R Vohr, Jon E Tyson, Edward F Bell, Brenda B Poindexter, Seetha Shankaran, Rosemary D Higgins, Abhik Das, Barbara J Stoll, Haresh Kirpalani
OBJECTIVES: To describe the frequency of postnatal discussions about withdrawal or withholding of life-sustaining therapy (WWLST), ensuing WWLST, and outcomes of infants surviving such discussions. We hypothesized that such survivors have poor outcomes. STUDY DESIGN: This retrospective review included registry data from 18 centers of the National Institute of Child Health and Human Development Neonatal Research Network. Infants born at 22-28 weeks of gestation who survived >12 hours during 2011-2013 were included...
June 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28646987/state-based-perinatal-quality-collaboratives-pursuing-improvements-in-perinatal-health-outcomes-for-all-mothers-and-newborns
#17
Munish Gupta, Edward F Donovan, Zsakeba Henderson
State-based perinatal quality collaboratives (SPQC) have become increasingly widespread in the United States. Whereas the first was launched in 1997, today over 40 states have SPQCs that are actively working or are in development. Despite great variability in the structure and function of SPQCs among states, many have seen their efforts lead to significant improvements in the care of mothers and newborns. Clinical topics targeted by SPQCs have included nosocomial infection in newborns, human milk use, neonatal abstinence syndrome, early term deliveries without a medical indication, maternal hemorrhage, and maternal hypertension, among others...
April 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28644312/early-infections-and-the-risk-of-irritable-bowel-syndrome-a-case-control-study
#18
Edward J Krajicek, Ann E Almazar, Joseph J Larson, Elizabeth J Atkinson, Nicholas J Talley, Yuri A Saito
GOALS: The goal of this study is to evaluate the association between early life infections and subsequent adult onset irritable bowel syndrome (IBS). BACKGROUND: Infections during adulthood are a known risk factor for adult-onset IBS. This investigation examined the role of childhood infections and infection risk factors in the development of IBS symptoms. STUDY: In total, 1010 subjects (509 outpatients with IBS, 501 matched controls) were mailed questionnaires regarding early-life infections during infancy (0 to 12 mo), toddler years (1 to 3 y), and child years (4 to 18 y)...
June 21, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#19
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28637760/discovery-of-a-highly-divergent-coronavirus-in-the-asian-house-shrew-from-china-illuminates-the-origin-of-the-alphacoronaviruses
#20
Wen Wang, Xian-Dan Lin, Yong Liao, Xiao-Qing Guan, Wen-Ping Guo, Jian-Guang Xing, Edward C Holmes, Yong-Zhen Zhang
Although shrews are one of the largest groups of mammals little is known about their role in the evolution and transmission of viral pathogens including coronaviruses. We captured 266 Asian house shrews (Suncus murinus) in Jiangxi and Zhejiang provinces, China, during 2013-2015. Coronavirus (CoV) RNA was detected in 24 Asian house shrews, with an overall prevalence of 9.02%. Complete viral genome sequences were successfully recovered from the RNA positive samples. The newly discovered shrew CoV fell into four lineages reflecting their geographic origins, indicative of largely allopatric evolution...
June 21, 2017: Journal of Virology
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