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Gordon syndrome

Daniel Geh, Caroline Gordon
Systemic lupus erythematosus (SLE) is a multi-system autoimmune disease. There are three drugs licensed for the treatment of lupus: corticosteroids, hydroxychloroquine and belimumab. Immunosuppressants such as azathioprine, methotrexate and mycophenolate are also used. Despite these treatments there is still considerable morbidity. New treatments are needed for the management of active lupus. Epratuzumab a humanized IgG1 monoclonal antibody that targets CD22 resulting in selective B cell modulation that has been considered a potential treatment for SLE...
March 15, 2018: Expert Review of Clinical Immunology
Toni K Choueiri, James Larkin, Mototsugu Oya, Fiona Thistlethwaite, Marcella Martignoni, Paul Nathan, Thomas Powles, David McDermott, Paul B Robbins, David D Chism, Daniel Cho, Michael B Atkins, Michael S Gordon, Sumati Gupta, Hirotsugu Uemura, Yoshihiko Tomita, Anna Compagnoni, Camilla Fowst, Alessandra di Pietro, Brian I Rini
BACKGROUND: The combination of an immune checkpoint inhibitor and a VEGF pathway inhibitor to treat patients with advanced renal-cell carcinoma might increase the clinical benefit of these drugs compared with their use alone. Here, we report preliminary results for the combination of avelumab, an IgG1 monoclonal antibody against the programmed cell death protein ligand PD-L1, and axitinib, a VEGF receptor inhibitor approved for second-line treatment of advanced renal-cell carcinoma, in treatment-naive patients with advanced renal-cell carcinoma...
March 9, 2018: Lancet Oncology
Seyed Hossein Bassir, Isabelle Chase, Bruce J Paster, Leslie B Gordon, Monica E Kleinman, Mark W Kieran, David M Kim, Andrew Sonis
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder with significant oral and dental abnormalities. Clinical symptoms include various features of accelerated aging such as alopecia, loss of subcutaneous fat, bone abnormalities, and premature cardiovascular disease. In addition, children with HGPS have been observed to suffer from generalized gingival recession. Whether periodontal manifestations associated with this syndrome are the results of changes in the oral flora is unknown...
February 19, 2018: Journal of Periodontology
Lingshu Wang, Wei Shi, James D Chappell, M Gordon Joyce, Yi Zhang, Masaru Kanekiyo, Michelle M Becker, Neeltje van Doremalen, Robert Fischer, Nianshuang Wang, Kizzmekia S Corbett, Misook Choe, Rosemarie D Mason, Joseph G Van Galen, Tongqing Zhou, Kevin O Saunders, Kathleen M Tatti, Lia M Haynes, Peter D Kwong, Kayvon Modjarrad, Wing-Pui Kong, Jason S McLellan, Mark R Denison, Vincent J Munster, John R Mascola, Barney S Graham
Middle East Respiratory Syndrome coronavirus (MERS-CoV) causes a highly lethal pulmonary infection with ∼35% mortality. The potential for a future pandemic originating from animal reservoirs or healthcare-associated events is a major public health concern. There are no vaccines or therapeutic agents currently available for MERS-CoV. Using a probe-based single B cell-cloning strategy, we have identified and characterized multiple neutralizing mAbs specifically binding to the receptor binding domain (RBD) or S1 (non-RBD) regions from a convalescent MERS-CoV-infected patient and from immunized rhesus macaques...
March 7, 2018: Journal of Virology
Vanessa Baute, Vahakn S Keskinyan, Erica R Sweeney, Kayla D Bowden, Allison Gordon, Janet Hutchens, Michael S Cartwright
INTRODUCTION: Magnet therapy has been proposed as a treatment for neurologic conditions. This trial assessed the feasibility and efficacy of a magnet inserted into a wristband for carpal tunnel syndrome (CTS). METHODS: 22 patients with mild-to-moderate CTS were randomized to wear a high-dose or low-dose "sham" magnetic wristband for 6 weeks. The primary outcome was the symptom severity scale (SSS) of the Boston Carpal Tunnel Questionnaire. Secondary measures were nerve conduction studies (NCS), median nerve ultrasound, and compliance...
March 7, 2018: Muscle & Nerve
Erynn S Gordon, Deepti Babu, Dawn A Laney
Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emerging tools to change how we practice and the way patients consume information is startling...
March 7, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
John Bates McCutcheon, Pascha Schaffer, Matthew Lyon, Richard Gordon
Bedside ultrasound is often used as a part of the evaluation of patients who are critically ill. The McConnell sign is an important echocardiographic finding in some critically ill patients with pulmonary embolism and an acute right ventricular infarct. We present 3 critically ill patients with confirmed acute chest syndrome who showed the McConnell sign on echocardiography. In patients with sickle cell disease presenting with chest pain and shortness of breath, the presence of the McConnell sign does not narrow the differential diagnosis between pulmonary embolism, an acute right ventricular infarct, and acute chest syndrome...
March 2, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Lorenzo Del Sorbo, Stefano Nava, Gordon Rubenfeld, Taylor Thompson, V Marco Ranieri
No abstract text is available yet for this article.
March 1, 2018: American Journal of Respiratory and Critical Care Medicine
Marta Arpone, Emma K Baker, Lesley Bretherton, Minh Bui, Xin Li, Simon Whitaker, Cheryl Dissanayake, Jonathan Cohen, Chriselle Hickerton, Carolyn Rogers, Mike Field, Justine Elliott, Solange M Aliaga, Ling Ling, David Francis, Stephen J C Hearps, Matthew F Hunter, David J Amor, David E Godler
Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships in a paediatric cohort of males with FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 males with FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation of 9 CpG sites within the FREE2 region was examined using the EpiTYPER approach...
February 26, 2018: Scientific Reports
Gul Hassan Sethar, Aisha Almoghawi, Nargis Khan, Wehad Altourah, Najat Mohammed Ashour
Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. The expression of these proteins is limited to the distal convoluted tube and collecting duct of the kidney. PHA II usually responds to salt restriction and thiazide diuretics...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Gordon Parker
OBJECTIVES: To detail some serious lamotrigine side effects and their management, and raise awareness about the possible lack of quality control of some brands of lamotrigine. METHODS: A literature review is provided and some personal observations added. RESULTS: While most psychiatrists are aware of the risks of Stevens-Johnson syndrome (SJS), awareness of two other serious side effects - toxic epidermal necrosis (TEN) and drug-related eosinophilia and systemic symptoms (DRESS) - is seemingly lower...
February 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
Ellen R Huang, Kim D Jones, Rob M Bennett, Gordon C Nagayama Hall, Karen S Lyons
Fibromyalgia (FM) is a chronic pain syndrome that includes debilitating symptoms such as widespread pain and tenderness, fatigue, and poor physical functioning. Research has shown FM patients' choice of coping style and relationship quality with their spouse can impact their mental quality of life (QoL), but no known study has examined the protective nature of relationship quality and coping behaviors on both patient physical and mental QoL in the context of chronic pain. We examined 204 patients with FM on the (a) roles of coping styles and relationship quality on patient quality of life, and (b) moderating effect of relationship quality on the association between negative coping style and patient QoL...
February 23, 2018: Psychology, Health & Medicine
Keith D Gordon, Tina Felfeli
Background: Charles Bonnet syndrome is characterized by formed visual hallucinations in individuals with vision loss. It is reported that one in five older adults with vision loss suffer from Charles Bonnet syndrome and the suspected lack of awareness amongst family physicians may lead to misdiagnosis and inappropriate treatment. Objective: To assess Canadian family physicians' awareness of Charles Bonnet syndrome. Methods: We conducted a national perception and practices survey of family physicians across Canada to assess (i) the level of awareness of Charles Bonnet syndrome amongst family physicians; (ii) the frequency of family physicians' encounters with patients with visual hallucinations and (iii) management strategies and referral patterns for patients with Charles Bonnet syndrome presenting to family physicians...
February 17, 2018: Family Practice
Ashwin Prakash, Leslie B Gordon, Monica E Kleinman, Ellen B Gurary, Joseph Massaro, Ralph D'Agostino, Mark W Kieran, Marie Gerhard-Herman, Leslie Smoot
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare disorder associated with premature death due to cardiovascular events during the second decade of life. However, because of its rarity (107 identified living patients), the natural history of cardiac disease remains uncharacterized. Therefore, meaningful cardiac end points for clinical trials have been difficult to establish. Objective: To examine the course of appearance of cardiac abnormalities in patients with HGPS to identify meaningful cardiac end points for use in future clinical trials...
February 21, 2018: JAMA Cardiology
Afsane Bahrami, Amir Avan, Hamid Reza Sadeghnia, Habibollah Esmaeili, Maryam Tayefi, Faezeh Ghasemi, Fatemeh Nejati Salehkhani, Mahla Arabpour-Dahoue, Azam Rastgar-Moghadam, Gordon A Ferns, Hamidreza Bahrami-Taghanaki, Majid Ghayour-Mobarhan
Vitamin D has a crucial role in female reproduction, possibly through its effects on calcium homeostasis, cyclic sex steroid hormone fluctuations, or neurotransmitter function. We have assessed the effects of vitamin D supplementation on dysmenorrhea and premenstrual syndrome (PMS) in adolescents. In this study, 897 adolescent girls living in Mashhad and Sabzevar, Iran, received nine high-dose vitamin D supplements (as 50,000 IU/week of cholecalciferol) and were followed up over 9 weeks. We evaluated the effect of vitamin D supplementation on individuals in four categories: those with only PMS; individuals with only dysmenorrhea; subjects with both PMS and dysmenorrhea and normal subjects...
February 15, 2018: Gynecological Endocrinology
Shannon L Goddard, Gordon D Rubenfeld, Venika Manoharan, Shelly P Dev, John Laffey, Giacomo Bellani, Tai Pham, Eddy Fan
OBJECTIVES: Radiographic criteria for acute respiratory distress syndrome have been criticized for poor reliability. Our objective was to test an educational intervention to improve the radiographic identification of acute respiratory distress syndrome by participants in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure study. DESIGN: Randomized controlled trial. SETTINGS: Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure study centers...
February 12, 2018: Critical Care Medicine
Terri P McVeigh, Jonathan A Soye, Emma Gordon, Sally A Lynch
Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens...
February 10, 2018: American Journal of Medical Genetics. Part A
Philip A May, Christina D Chambers, Wendy O Kalberg, Jennifer Zellner, Haruna Feldman, David Buckley, David Kopald, Julie M Hasken, Ronghui Xu, Gordon Honerkamp-Smith, Howard Taras, Melanie A Manning, Luther K Robinson, Margaret P Adam, Omar Abdul-Rahman, Keith Vaux, Tamison Jewett, Amy J Elliott, Julie A Kable, Natacha Akshoomoff, Daniel Falk, Judith A Arroyo, Dale Hereld, Edward P Riley, Michael E Charness, Claire D Coles, Kenneth R Warren, Kenneth Lyons Jones, H Eugene Hoyme
Importance: Fetal alcohol spectrum disorders are costly, life-long disabilities. Older data suggested the prevalence of the disorder in the United States was 10 per 1000 children; however, there are few current estimates based on larger, diverse US population samples. Objective: To estimate the prevalence of fetal alcohol spectrum disorders, including fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder, in 4 regions of the United States...
February 6, 2018: JAMA: the Journal of the American Medical Association
Korapat Mayurasakorn, Nurul Hasanah, Tsuyoshi Homma, Mika Homma, Isis Katayama Rangel, Amanda E Garza, Jose R Romero, Gail K Adler, Gordon H Williams, Luminita H Pojoga
BACKGROUND AND PURPOSE: The plasma membrane protein caveolin-1 (CAV-1) has been shown to be involved in modulating glucose homeostasis and the actions of the renin-angiotensin-aldosterone system (RAAS). Caloric restriction (CR) is widely accepted as an effective therapeutic approach to improve insulin sensitivity and reduce the severity of diabetes. Recent data indicate that polymorphisms of the CAV-1 gene are strongly associated with insulin resistance, hypertension and metabolic abnormalities in non-obese individuals...
February 1, 2018: Metabolism: Clinical and Experimental
Jacques-Eric Gottenberg, Thomas Dörner, Hendrika Bootsma, Valérie Devauchelle-Pensec, Simon J Bowman, Xavier Mariette, Holger Bartz, Marga Oortgiesen, Anthony Shock, Willem Koetse, Catrinel Galateanu, Sabine Bongardt, William A Wegener, David M Goldenberg, Guy Meno-Tetang, Gordana Kosutic, Caroline Gordon
OBJECTIVE: EMBODY 1 (NCT01262365) and EMBODY 2 (NCT01261793) investigated the efficacy and safety of epratuzumab, a CD22-targeted humanized monoclonal IgG1 antibody, in patients with systemic lupus erythematosus (SLE). The studies showed no significant difference from placebo in primary or secondary clinical outcome measures, but did demonstrate B-cell-specific immunological activity. METHODS: Efficacy and safety of epratuzumab were compared between two patient subpopulations randomized in EMBODY 1 & 2: SLE patients with a diagnosis of associated Sjögren's syndrome (aSjS) and without aSjS (non-aSjS patients)...
January 30, 2018: Arthritis & Rheumatology
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