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https://www.readbyqxmd.com/read/28979540/iatrogenic-forearm-compartment-syndrome
#1
Ahmed Elmorsy, James Nutt, Nick Taylor, Justin Kirk-Bayley, Sean Hughes
Limb compartment syndrome may be sequelae of trauma, but in the context of critical care blood sampling, arterial damage may have profound consequences. We describe a series of three cases and their progress and discuss guidelines for prevention of this potentially devastating occurrence in critically ill patients.
February 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/28971166/somatic-hla-mutations-expose-the-role-of-class-i-mediated-autoimmunity-in-aplastic-anemia-and-its-clonal-complications
#2
Daria V Babushok, Jamie L Duke, Hongbo M Xie, Natasha Stanley, Jamie Atienza, Nieves Perdigones, Peter Nicholas, Deborah Ferriola, Yimei Li, Hugh Huang, Wenda Ye, Jennifer J D Morrissette, Jane Kearns, David L Porter, Gregory M Podsakoff, Laurence C Eisenlohr, Jaclyn A Biegel, Stella T Chou, Dimitrios S Monos, Monica Bessler, Timothy S Olson
Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two aAA patients with somatic mutations in HLA class I genes...
October 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/28895526/molecular-testing-for-lynch-syndrome-in-people-with-colorectal-cancer-systematic-reviews-and-economic-evaluation
#3
Tristan Snowsill, Helen Coelho, Nicola Huxley, Tracey Jones-Hughes, Simon Briscoe, Ian M Frayling, Chris Hyde
BACKGROUND: Inherited mutations in deoxyribonucleic acid (DNA) mismatch repair (MMR) genes lead to an increased risk of colorectal cancer (CRC), gynaecological cancers and other cancers, known as Lynch syndrome (LS). Risk-reducing interventions can be offered to individuals with known LS-causing mutations. The mutations can be identified by comprehensive testing of the MMR genes, but this would be prohibitively expensive in the general population. Tumour-based tests - microsatellite instability (MSI) and MMR immunohistochemistry (IHC) - are used in CRC patients to identify individuals at high risk of LS for genetic testing...
September 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28890042/guillain-barre-syndrome-in-the-elderly-experience-from-a-tertiary-care-hospital-in-india
#4
M Nagappa, W Rahul, S Sinha, P S Bindu, P S Mathuranath, S Rao, S Periyavan, G S Umamaheshwara Rao, A B Taly
Age influences incidence and prognosis of Guillain Barre Syndrome (GBS), common cause of ascending areflexic quadriparesis. Dedicated studies on elderly GBS are infrequent. This study aimed to describe clinical features and outcome at hospital-discharge in patients aged≥60years with GBS. Medical records of 70 elderly GBS over 15years were analysed. Mean symptom-duration was 5.78±4.5days and onset-to-peak 5.14±4.4days. Antecedent events preceded GBS by 8.07±9.9days and included: fever (n=19), respiratory infection (n=6), and gastroenteritis (n=5)...
September 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28885400/internal-validation-of-the-sepsis-in-obstetrics-score-to-identify-risk-of-morbidity-from-sepsis-in-pregnancy
#5
Catherine M Albright, Phinnara Has, Dwight J Rouse, Brenna L Hughes
OBJECTIVE: To prospectively validate the Sepsis in Obstetrics Score, a pregnancy-specific sepsis scoring system, to identify risk for intensive care unit (ICU) admission for sepsis in pregnancy. METHODS: This is a prospective validation study of the Sepsis in Obstetrics Score. The primary outcome was admission to the ICU for sepsis. Secondary outcomes included admission to a telemetry unit and time to administration of antibiotic therapy. We evaluated test characteristics of a predetermined score of 6 or greater...
October 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28844315/massively-parallel-sequencing-and-targeted-exomes-in-familial-kidney-disease-can-diagnose-underlying-genetic-disorders
#6
Andrew J Mallett, Hugh J McCarthy, Gladys Ho, Katherine Holman, Elizabeth Farnsworth, Chirag Patel, Jeffery T Fletcher, Amali Mallawaarachchi, Catherine Quinlan, Bruce Bennetts, Stephen I Alexander
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease...
August 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28836119/cross-cultural-study-of-information-processing-biases-in-chronic-fatigue-syndrome-comparison-of-dutch-and-uk-chronic-fatigue-patients
#7
Alicia M Hughes, Colette R Hirsch, Stephanie Nikolaus, Trudie Chalder, Hans Knoop, Rona Moss-Morris
PURPOSE: This study aims to replicate a UK study, with a Dutch sample to explore whether attention and interpretation biases and general attentional control deficits in chronic fatigue syndrome (CFS) are similar across populations and cultures. METHOD: Thirty eight Dutch CFS participants were compared to 52 CFS and 51 healthy participants recruited from the UK. Participants completed self-report measures of symptoms, functioning, and mood, as well as three experimental tasks (i) visual-probe task measuring attentional bias to illness (somatic symptoms and disability) versus neutral words, (ii) interpretive bias task measuring positive versus somatic interpretations of ambiguous information, and (iii) the Attention Network Test measuring general attentional control...
August 23, 2017: International Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28830941/mers-cov-accessory-orfs-play-key-role-for-infection-and-pathogenesis
#8
Vineet D Menachery, Hugh D Mitchell, Adam S Cockrell, Lisa E Gralinski, Boyd L Yount, Rachel L Graham, Eileen T McAnarney, Madeline G Douglas, Trevor Scobey, Anne Beall, Kenneth Dinnon, Jacob F Kocher, Andrew E Hale, Kelly G Stratton, Katrina M Waters, Ralph S Baric
While dispensable for viral replication, coronavirus (CoV) accessory open reading frame (ORF) proteins often play critical roles during infection and pathogenesis. Utilizing a previously generated mutant, we demonstrate that the absence of all four Middle East respiratory syndrome CoV (MERS-CoV) accessory ORFs (deletion of ORF3, -4a, -4b, and -5 [dORF3-5]) has major implications for viral replication and pathogenesis. Importantly, attenuation of the dORF3-5 mutant is primarily driven by dysregulated host responses, including disrupted cell processes, augmented interferon (IFN) pathway activation, and robust inflammation...
August 22, 2017: MBio
https://www.readbyqxmd.com/read/28815588/the-tooth-the-whole-tooth-and-nothing-but-the-tooth-tooth-shape-and-ontogenetic-shift-dynamics-in-the-white-shark-carcharodon-carcharias
#9
G C A French, M Stürup, S Rizzuto, J H van Wyk, D Edwards, R W Dolan, S P Wintner, A V Towner, W O H Hughes
Results from this study of the white shark Carcharodon carcharias include measurements obtained using a novel photographic method that reveal significant differences between the sexes in the relationship between tooth cuspidity and shark total length, and a novel ontogenetic change in male tooth shape. Males exhibit broader upper first teeth and increased distal inclination of upper third teeth with increasing length, while females do not present a consistent morphological change. Substantial individual variation, with implications for pace of life syndrome, was present in males and tooth polymorphism was suggested in females...
August 17, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28811529/disturbance-of-plasma-lipid-metabolic-profile-in-guillain-barre-syndrome
#10
Hsiang-Yu Tang, Daniel Tsun-Yee Chiu, Jui-Fen Lin, Cheng-Yu Huang, Kuo-Hsuan Chang, Rong-Kuo Lyu, Long-Sun Ro, Hung-Chou Kuo, Mei-Ling Cheng, Chiung-Mei Chen
Guillain-Barre Syndrome (GBS) is an inflammatory disease of the peripheral nervous system. Given that plasma metabolic profiles in GBS patients have never been explored, plasma samples of 38 GBS patients, 22 multiple sclerosis (MS) patients, and 40 healthy controls were analyzed by using untargeted and targeted metabolomics analysis. The untargeted analysis showed that levels of a set of plasma lipid metabolites were significantly decreased in GBS patients compared to the controls. Furthermore, the targeted analysis demonstrated that levels of 41 metabolites in GBS patients were significantly changed compared to either the controls or MS patients...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28782281/systemic-administration-of-bone-marrow-derived-cells-leads-to-better-uterine-engraftment-than-use-of-uterine-derived-cells-or-local-injection
#11
Ying Liu, Reshef Tal, Nicola Pluchino, Ramanaiah Mamillapalli, Hugh S Taylor
Stem cells are recruited to the uterus where they differentiate into endometrial cells and have been suggested as potential therapy for uterine injury such as Asherman's syndrome. However, it is unknown whether local intrauterine injection may result in better stem cell engraftment of the uterus compared with systemic administration, and whether uterine-derived cells (UDCs) may confer an advantage over BM-derived cells (BMDCs). Mice underwent local injury to a single uterine horn. Green fluorescent protein (GFP)-expressing BMDCs, UDCs or saline (control) were injected either intravenously or locally (uterine lumen) into wild-type recipients...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28728512/antiphospholipid-hughes-syndrome-insights-for-orthopedics
#12
M H A Noureldine, I Uthman
No abstract text is available yet for this article.
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28694622/pulmonary-involvement-in-patients-with-guillain-barr%C3%A3-syndrome-in-subacute-phase
#13
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
#14
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, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcón-Riquelme, Xavier Mariette, Christopher J Lessard, John B Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L Sivils, R Hal Scofield
OBJECTIVE: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~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 SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients...
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
#15
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
#16
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
#17
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...
August 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
#18
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
#19
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
#20
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
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