keyword
MENU ▼
Read by QxMD icon Read
search

Hughe's syndrome

keyword
https://www.readbyqxmd.com/read/28694622/pulmonary-involvement-in-patients-with-guillain-barr%C3%A3-syndrome-in-subacute-phase
#1
Meeka Khanna, Nidhi Rawat, Anupam Gupta, Madhu Nagappa, Arun B Taly, M R Rukmani, T N Sathyaprabha, Partha Haldar
OBJECTIVES: To evaluate the pulmonary function in Guillain-Barre syndrome (GBS) patients in subacute phase and find clinical correlates of pulmonary dysfunction. METHODS: This was a single-center, prospective, cross-sectional, hospital-based study in GBS patients performed in Department of Neurological Rehabilitation at a tertiary care institute. Clinical examination for pulmonary function was done by measuring chest expansion. The pulmonary function tests were carried out by Spirometry kit Microquark Cosmed, Italy...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28692793/rare-x-chromosome-abnormalities-in-systemic-lupus-erythematosus-and-sj%C3%A3-gren-s-syndrome
#2
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/28692387/syndromic-surveillance-revolution-public-health-benefits-of-modernizing-the-emergency-care-patient-health-record-in-england
#3
Helen E Hughes, Thomas C Hughes, Aaron Haile, Gillian E Smith, Brian McCloskey, Alex J Elliot
No abstract text is available yet for this article.
July 2017: Public Health Reports
https://www.readbyqxmd.com/read/28675962/impairments-in-the-visual-processing-of-global-biological-motion-cues-in-down-syndrome
#4
Hugh Riddell, J Walter Tolentino-Castro, Heiko Wagner, Markus Lappe
Down syndrome (DS) is one of the most common chromosomal disorders and is often associated with a number of motor and cognitive impairments. Little research has been dedicated to investigating the perceptual abilities of individuals with DS. The visual processing of biological motion has been shown to be impaired in DS. It has been proposed that these impairments may stem from an inability to process the global patterns of full-body motion produced by a moving actor; however, this has not been explicitly investigated...
January 1, 2017: Perception
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#5
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650393/orthotopic-patient-derived-pancreatic-cancer-xenografts-engraft-into-the-pancreatic-parenchyma-metastasize-and-induce-muscle-wasting-to-recapitulate-the-human-disease
#6
Kristina L Go, Daniel Delitto, Sarah M Judge, Michael H Gerber, Thomas J George, Kevin E Behrns, Steven J Hughes, Andrew R Judge, Jose G Trevino
OBJECTIVE: Limitations associated with current animal models serve as a major obstacle to reliable preclinical evaluation of therapies in pancreatic cancer (PC). In an effort to develop more reliable preclinical models, we have recently established a subcutaneous patient-derived xenograft (PDX) model. However, critical aspects of PC responsible for its highly lethal nature, such as the development of distant metastasis and cancer cachexia, remain underrepresented in the flank PDX model...
June 22, 2017: Pancreas
https://www.readbyqxmd.com/read/28640813/identification-of-a-sj%C3%A3-gren-s-syndrome-susceptibility-locus-at-oas1-that-influences-isoform-switching-protein-expression-and-responsiveness-to-type-i-interferons
#7
He Li, Tove Ragna Reksten, John A Ice, Jennifer A Kelly, Indra Adrianto, Astrid Rasmussen, Shaofeng Wang, Bo He, Kiely M Grundahl, Stuart B Glenn, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Deborah S Cunninghame Graham, Ketan Patel, Adam J Adler, A Darise Farris, Michael T Brennan, James Chodosh, Rajaram Gopalakrishnan, Michael H Weisman, Swamy Venuturupalli, Daniel J Wallace, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Evan S Vista, Contessa E Edgar, Michael D Rohrer, Donald U Stone, Timothy J Vyse, John B Harley, Patrick M Gaffney, Judith A James, Sean Turner, Ilias Alevizos, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, Courtney G Montgomery, R Hal Scofield, Susan Kovats, Xavier Mariette, Lars Rönnblom, Torsten Witte, Maureen Rischmueller, Marie Wahren-Herlenius, Roald Omdal, Roland Jonsson, Wan-Fai Ng, Gunnel Nordmark, Christopher J Lessard, Kathy L Sivils
Sjögren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28609371/orthotopic-patient-derived-pancreatic-cancer-xenografts-engraft-into-the-pancreatic-parenchyma-metastasize-and-induce-muscle-wasting-to-recapitulate-the-human-disease
#8
Kristina L Go, Daniel Delitto, Sarah M Judge, Michael H Gerber, Thomas J George, Kevin E Behrns, Steven J Hughes, Andrew R Judge, Jose G Trevino
OBJECTIVE: Limitations associated with current animal models serve as a major obstacle to reliable preclinical evaluation of therapies in pancreatic cancer (PC). In an effort to develop more reliable preclinical models, we have recently established a subcutaneous patient-derived xenograft (PDX) model. However, critical aspects of PC responsible for its highly lethal nature, such as the development of distant metastasis and cancer cachexia, remain underrepresented in the flank PDX model...
July 2017: Pancreas
https://www.readbyqxmd.com/read/28574030/fitz-hugh-curtis-syndrome
#9
Amey Dilip Sonavane, Pravin M Rathi
No abstract text is available yet for this article.
January 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28567318/hemolysis-elevated-liver-enzymes-and-low-platelets-severe-fetal-growth-restriction-postpartum-subarachnoid-hemorrhage-and-craniotomy-a-rare-case-report-and-systematic-review
#10
Shadi Rezai, Justin Faye, Alexander Hughes, Mon-Lai Cheung, Joel R Cohen, Judy A Kaia, Paul N Fuller, Cassandra E Henderson
Introduction. Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome is a relatively uncommon but traumatic condition occurring in the later stage of pregnancy as a complication of severe preeclampsia or eclampsia. Prompt brain computed tomography (CT) or magnetic resonance imaging (MRI) and a multidisciplinary management approach are required to improve perinatal outcome. Case. A 37-year-old, Gravida 6, Para 1-0-4-1, Hispanic female with a history of chronic hypertension presented at 26 weeks and 6 days of gestational age...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28556449/effects-of-metap2-inhibition-on-hyperphagia-and-body-weight-in-prader-willi-syndrome-a-randomized-double-blind-placebo-controlled-trial
#11
Shawn E McCandless, Jack A Yanovski, Jennifer Miller, Cary Fu, Lynne M Bird, Parisa Salehi, Christine L Chan, Diane Stafford, M Jennifer Abuzzahab, David Viskochil, Sarah E Barlow, Moris Angulo, Susan E Myers, Barbara Y Whitman, Dennis Styne, Elizabeth Roof, Elisabeth M Dykens, Ann O Scheimann, Jaret Malloy, Dongliang Zhuang, Kristin Taylor, Thomas E Hughes, Dennis D Kim, Merlin G Butler
AIMS: There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS trial assessed the efficacy, safety, and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib. MATERIALS AND METHODS: Participants with PWS (12-65 years) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib, or 2.4 mg beloranib injection for 26 weeks at 15 US sites. Coprimary endpoints were the changes in hyperphagia (measured by Hyperphagia Questionnaire for Clinical Trials [HQ-CT]; possible score 0-36) and weight by intention-to-treat...
May 29, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28535791/clinical-outcomes-in-a-subpopulation-of-adults-with-morquio-a-syndrome-results-from-a-long-term-extension-study-of-elosulfase-alfa
#12
D Hughes, R Giugliani, N Guffon, S A Jones, K E Mengel, R Parini, R Matousek, S M Hawley, A Quartel
BACKGROUND: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-label, long-term extension study of elosulfase alfa (modified per protocol [MPP], n = 32; intent-to-treat [ITT], n = 37; MOR-005; NCT01415427) were compared with the ≥18-year-old untreated population with 2-years follow-up from a Morquio A natural history study (n = 10; MorCAP; NCT00787995)...
May 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28530713/bach2-immunodeficiency-illustrates-an-association-between-super-enhancers-and-haploinsufficiency
#13
Behdad Afzali, Juha Grönholm, Jana Vandrovcova, Charlotte O'Brien, Hong-Wei Sun, Ine Vanderleyden, Fred P Davis, Ahmad Khoder, Yu Zhang, Ahmed N Hegazy, Alejandro V Villarino, Ira W Palmer, Joshua Kaufman, Norman R Watts, Majid Kazemian, Olena Kamenyeva, Julia Keith, Anwar Sayed, Dalia Kasperaviciute, Michael Mueller, Jason D Hughes, Ivan J Fuss, Mohammed F Sadiyah, Kim Montgomery-Recht, Joshua McElwee, Nicholas P Restifo, Warren Strober, Michelle A Linterman, Paul T Wingfield, Holm H Uhlig, Rahul Roychoudhuri, Timothy J Aitman, Peter Kelleher, Michael J Lenardo, John J O'Shea, Nichola Cooper, Arian D J Laurence
The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is associated with an archetypal super-enhancer (SE). Single-nucleotide variants in the BACH2 locus are associated with several autoimmune diseases, but BACH2 mutations that cause Mendelian monogenic primary immunodeficiency have not previously been identified. Here we describe a syndrome of BACH2-related immunodeficiency and autoimmunity (BRIDA) that results from BACH2 haploinsufficiency...
July 2017: Nature Immunology
https://www.readbyqxmd.com/read/28528869/temporary-removal-pure-membranous-lupus-nephritis-description-of-a-cohort-of-150-patients-and-review-of-the-literature
#14
Lucía Silva-Fernández, Teresa Otón, Anca Askanase, Patricia Carreira, Francisco Javier López-Longo, Alejandro Olivé, Íñigo Rúa-Figueroa, Javier Narváez, Esther Ruiz-Lucea, Mariano Andrés, Enrique Calvo, Francisco Toyos, Juan José Alegre-Sancho, Eva Tomero, Carlos Montilla, Antonio Zea, Esther Uriarte, Jaime Calvo-Alén, Carlos Marras, Víctor M Martínez-Taboada, María Ángeles Belmonte-López, José Rosas, Enrique Raya, Gema Bonilla, Mercedes Freire, José María Pego-Reigosa, Isabel Millán, Adwoa Hughes-Morley
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at: https://www.elsevier.com/about/our-business/policies/article-withdrawal.
May 18, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28528348/effect-of-home-noninvasive-ventilation-with-oxygen-therapy-vs-oxygen-therapy-alone-on-hospital-readmission-or-death-after-an-acute-copd-exacerbation-a-randomized-clinical-trial
#15
RANDOMIZED CONTROLLED TRIAL
Patrick B Murphy, Sunita Rehal, Gill Arbane, Stephen Bourke, Peter M A Calverley, Angela M Crook, Lee Dowson, Nicholas Duffy, G John Gibson, Philip D Hughes, John R Hurst, Keir E Lewis, Rahul Mukherjee, Annabel Nickol, Nicholas Oscroft, Maxime Patout, Justin Pepperell, Ian Smith, John R Stradling, Jadwiga A Wedzicha, Michael I Polkey, Mark W Elliott, Nicholas Hart
Importance: Outcomes after exacerbations of chronic obstructive pulmonary disease (COPD) requiring acute noninvasive ventilation (NIV) are poor and there are few treatments to prevent hospital readmission and death. Objective: To investigate the effect of home NIV plus oxygen on time to readmission or death in patients with persistent hypercapnia after an acute COPD exacerbation. Design, Setting, and Participants: A randomized clinical trial of patients with persistent hypercapnia (Paco2 >53 mm Hg) 2 weeks to 4 weeks after resolution of respiratory acidemia, who were recruited from 13 UK centers between 2010 and 2015...
June 6, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28522352/immune-plasma-for-the-treatment-of-severe-influenza-an-open-label-multicentre-phase-2-randomised-study
#16
John H Beigel, Pablo Tebas, Marie-Carmelle Elie-Turenne, Ednan Bajwa, Todd E Bell, Charles B Cairns, Shmuel Shoham, Jaime G Deville, Eric Feucht, Judith Feinberg, Thomas Luke, Kanakatte Raviprakash, Janine Danko, Dorothy O'Neil, Julia A Metcalf, Karen King, Timothy H Burgess, Evgenia Aga, H Clifford Lane, Michael D Hughes, Richard T Davey
BACKGROUND: Influenza causes substantial morbidity and mortality despite available treatments. Anecdotal reports suggest that plasma with high antibody titres to influenza might be of benefit in the treatment of severe influenza. METHODS: In this randomised, open-label, multicentre, phase 2 trial, 29 academic medical centres in the USA assessed the safety and efficacy of anti-influenza plasma with haemagglutination inhibition antibody titres of 1:80 or more to the infecting strain...
May 15, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28489705/retinal-and-choroidal-vascular-occlusion-following-aqueous-misdirection-syndrome-in-a-patient-with-sickle-cell-trait
#17
Samantha Dewundara, Nariman Nassiri, Johnstone M Kim, Huseyin Kadikoy, Wendewessen Amde, Justin Tannir, Bret A Hughes, Gary W Abrams
PURPOSE: To report a patient with retinal and choroidal vascular occlusion as a presenting sign of sickle cell trait following the development of aqueous misdirection syndrome. METHODS: Retrospective chart review. RESULTS: A patient treated for bilateral chronic angle-closure glaucoma with sequential EX-PRESS glaucoma filtration device surgery developed sequential bilateral aqueous misdirection syndrome. The left eye developed retinal arterial and localized choroidal vascular occlusions subsequent to an acute elevation in intraocular pressure and possibly the use of oral acetazolamide...
May 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28482054/safety-of-vaccinations-in-patients-with-cryopyrin-associated-periodic-syndromes-a-prospective-registry-based-study
#18
Veronika K Jaeger, Hal M Hoffman, Tom van der Poll, Hugh Tilson, Julia Seibert, Antonio Speziale, Guido Junge, Kristina Franke, Eleni Vritzali, Philip N Hawkins, Jasmin Kuemmerle-Deschner, Ulrich A Walker
Objectives.: Pneumococcal, tetanus and influenza vaccinations are recommended for patients with cryopyrin-associated periodic syndromes (CAPS) when treated with immunosuppressive medication. The aim of this publication is to report the safety of pneumococcal and other vaccinations in CAPS patients. Methods.: All CAPS patients followed in the β-CONFIDENT (Clinical Outcomes and Safety Registry study of Ilaris patients) registry were analysed if they had received a vaccination...
May 6, 2017: Rheumatology
https://www.readbyqxmd.com/read/28463088/the-relationship-between-social-support-and-health-related-quality-of-life-in-patients-with-antiphospholipid-hughes-syndrome
#19
Sofia Georgopoulou, Sofia Efraimidou, Sara Jane MacLennan, Fowzia Ibrahim, Thomas Cox
OBJECTIVE: Antiphospholipid (Hughes) syndrome (APS) is recognised as a systemic autoimmune disease defined by recurrent thromboembolic events and/or pregnancy morbidity. Little is known about the psychological burden of this long-term condition. This study aims to explore the relationship between social support and health-related quality of life (HRQoL) in patients with APS. METHODS: A total of 270 patients with a clinical diagnosis of APS participated in a cross-sectional online questionnaire survey...
May 2, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28435766/a-heart-too-stiff-to-beat-a-case-of-familial-transthyretin-amyloidosis-cardiomyopathy
#20
Yan Zhou, Sameen Khalid, Aamer Abbass, Laura Hughes, Marcos Hazday
Heart failure is a common clinical syndrome caused by a variety of cardiac diseases. We report a rare case of familial transthyretin amyloidosis cardiomyopathy to heighten the awareness of this rare but lethal cause of heart failure, as therapeutic interventions such as liver or heart transplant could be curative in selected patients.
March 20, 2017: Curēus
keyword
keyword
92477
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"