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Hughe's syndrome

Richard Ac Hughes, Ruth Brassington, Angela A Gunn, Pieter A van Doorn
BACKGROUND: Guillain-Barré syndrome (GBS) is an acute paralysing disease caused by inflammation of the peripheral nerves, which corticosteroids would be expected to benefit. OBJECTIVES: To examine the ability of corticosteroids to hasten recovery and reduce the long-term morbidity from GBS. SEARCH METHODS: On 12 January 2016, we searched the Cochrane Neuromuscular Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase...
October 24, 2016: Cochrane Database of Systematic Reviews
Marta Canuti, Kimberly E O'Leary, Bruce D Hunter, Grant Spearman, Davor Ojkic, Hugh G Whitney, Andrew S Lang
Aleutian mink disease virus (AMDV) causes plasmacytosis, an immune complex-associated syndrome that affects wild and farmed mink. The virus can also infect other small mammals (e.g., ferrets, skunks, ermines, and raccoons), but the disease in these hosts has been studied less. In 2007, a mink plasmacytosis outbreak began on the Island of Newfoundland, and the virus has been endemic in farms since then. In this study, we evaluated the molecular epidemiology of AMDV in farmed and wild animals of Newfoundland since before the beginning of the outbreak and investigated the epidemic in a global context by studying AMDV worldwide, thereby examining its diffusion and phylogeography...
January 2016: Virus Evolution
Erin Sharwood, Rehna Gous, John Cardinal, Ian Hughes, Tony Huynh
No abstract text is available yet for this article.
February 2016: Pathology
Alex J Elliot, Helen E Hughes, John Astbury, Grainne Nixon, Kate Brierley, Roberto Vivancos, Thomas Inns, Valerie Decraene, Katherine Platt, Iain Lake, Sarah J O'Brien, Gillian E Smith
During August 2015, a boil water notice (BWN) was issued across parts of North West England following the detection of Cryptosporidium oocysts in the public water supply. Using prospective syndromic surveillance, we detected statistically significant increases in the presentation of cases of gastroenteritis and diarrhoea to general practitioner services and related calls to the national health telephone advice service in those areas affected by the BWN. In the affected areas, average in-hours general practitioner consultations for gastroenteritis increased by 24...
October 13, 2016: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
October 17, 2016: Nature Genetics
Hasan Huseyin Ozdemir
The purpose of this study was to investigate the prognostic value of the pretreatment and post-treatment albumin level, neutrophil-lymphocyte ratio (NLR), and platelet-lymphocyte ratio (PLR) in subtypes of Guillain-Barré syndrome (GBS). A retrospective analysis of 62 patients with GBS treated between 2011 and 2015 in Dicle University Hospital, Turkey, was carried out. The pretreatment and post-treatment albumin, NLR, and PLR were documented, together with acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy, motor sensory axonal neuropathy, and Hughes' scores...
September 2016: Arquivos de Neuro-psiquiatria
Tom Hughes, Nikolaos A Chatzizacharias, James Richards, Simon Harper
INTRODUCTION: Inferior pancreatico-duodenal artery (IPDA) aneurysms are very rare and commonly associated with coeliac axis stenosis or occlusion due to atherosclerosis, thrombosis or median arcuate ligament syndrome. We present a case of a surgical repair of an IPDA aneurysm with the use of a supra-coeliac aorto-hepatic bypass with a polytetrafluoroethylene (PTFE) graft, following a failed initial attempt at an endovascular repair. PRESENTATION: A 75 year old female, who was under investigation for night sweats, was referred to our team with an incidental finding of a 19mm fusiform IPDA aneurysm...
September 26, 2016: International Journal of Surgery Case Reports
Hugh J Freeman
Segmental colitis associated diverticulosis (SCAD) has become increasingly appreciated as a form of inflammatory disease of the colon. Several features suggest that SCAD is a distinct disorder. SCAD tends to develop almost exclusively in older adults, predominately, but not exclusively, males. The inflammatory process occurs mainly in the sigmoid colon, and usually remains localized to this region of the colon alone. SCAD most often presents with rectal bleeding and subsequent endoscopic visualization reveals a well localized process with non-specific histopathologic inflammatory changes...
September 28, 2016: World Journal of Gastroenterology: WJG
S Tang, E Hughes, K Lascelles, M A Simpson, D K Pal
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc...
September 26, 2016: American Journal of Medical Genetics. Part A
Jason E McDermott, Hugh D Mitchell, Lisa E Gralinski, Amie J Eisfeld, Laurence Josset, Armand Bankhead, Gabriele Neumann, Susan C Tilton, Alexandra Schäfer, Chengjun Li, Shufang Fan, Shannon McWeeney, Ralph S Baric, Michael G Katze, Katrina M Waters
BACKGROUND: The complex interplay between viral replication and host immune response during infection remains poorly understood. While many viruses are known to employ anti-immune strategies to facilitate their replication, highly pathogenic virus infections can also cause an excessive immune response that exacerbates, rather than reduces pathogenicity. To investigate this dichotomy in severe acute respiratory syndrome coronavirus (SARS-CoV), we developed a transcriptional network model of SARS-CoV infection in mice and used the model to prioritize candidate regulatory targets for further investigation...
2016: BMC Systems Biology
Alicia M Hughes, Rola Gordon, Trudie Chalder, Colette R Hirsch, Rona Moss-Morris
BACKGROUND: There is an abundance of research into cognitive processing biases in clinical psychology including the potential for applying cognitive bias modification techniques to assess the causal role of biases in maintaining anxiety and depression. Within the health psychology field, there is burgeoning interest in applying these experimental methods to assess potential cognitive biases in relation to physical health conditions and health-related behaviours. Experimental research in these areas could inform theoretical development by enabling measurement of implicit cognitive processes that may underlie unhelpful illness beliefs and help drive health-related behaviours...
November 2016: British Journal of Health Psychology
Mohammed Abdelbary, Ahmed El-Masry, Motaz S Rabie
INTRODUCTION: Hughes-Stovin syndrome is a life-threatening disorder of unknown etiology. This condition is characterized by vasculitis, deep venous thrombosis and aneurysms that mainly involve the pulmonary arteries resulting in hemoptysis. It has been described in literature less than 40 times. However, we believe it is not very uncommon as it might be diagnosed as pulmonary embolism solely. In such cases, anticoagulation therapy augments the risk of life-threatening hemoptysis. MATERIALS AND METHODS: We report the case of a 35 years old, Egyptian female patient with Hughes-Stovin syndrome, who initially presented with lower limb deep vein thrombosis and coughing of blood...
2016: Respiratory Medicine Case Reports
Dan Todkill, Helen E Hughes, Alex J Elliot, Roger A Morbey, Obaghe Edeghere, Sally Harcourt, Tom Hughes, Tina Endericks, Brian McCloskey, Mike Catchpole, Sue Ibbotson, Gillian Smith
: Introduction In preparation for the London 2012 Olympic Games, existing syndromic surveillance systems operating in England were expanded to include daily general practitioner (GP) out-of-hours (OOH) contacts and emergency department (ED) attendances at sentinel sites (the GP OOH and ED syndromic surveillance systems: GPOOHS and EDSSS). Hypothesis/Problem The further development of syndromic surveillance systems in time for the London 2012 Olympic Games provided a unique opportunity to investigate the impact of a large mass-gathering event on public health and health services as monitored in near real-time by syndromic surveillance of GP OOH contacts and ED attendances...
September 19, 2016: Prehospital and Disaster Medicine
Peter Dh Wall, Edward J Dickenson, David Robinson, Ivor Hughes, Alba Realpe, Rachel Hobson, Damian R Griffin, Nadine E Foster
INTRODUCTION: Femoroacetabular impingement (FAI) syndrome is increasingly recognised as a cause of hip pain. As part of the design of a randomised controlled trial (RCT) of arthroscopic surgery for FAI syndrome, we developed a protocol for non-operative care and evaluated its feasibility. METHODS: In phase one, we developed a protocol for non-operative care for FAI in the UK National Health Service (NHS), through a process of systematic review and consensus gathering...
October 2016: British Journal of Sports Medicine
Madhu Nagappa, Archana B Netto, Arun B Taly, Girish Baburao Kulkarni, G S Umamaheshwara Rao, Sunder Periyavan, Shivaji Rao
BACKGROUND: Respiratory muscle paralysis is a serious complication of Guillain-Barre syndrome (GBS). Factors that govern duration and recovery from respiratory paralysis are unclear. AIM: To correlate electrophysiological parameters in critically ill GBS with duration of mechanical ventilation and outcome at discharge. MATERIALS AND METHODS: Data of a large cohort (n=93; M:F 59:34; mean age: 33.51+21.4 years) of critically-ill patients with GBS seen over one decade was retrospectively analyzed...
September 2016: Neurology India
Margarita V Revzin, Mahan Mathur, Haatal B Dave, Matthew L Macer, Michael Spektor
Pelvic inflammatory disease (PID) is a common medical problem, with almost 1 million cases diagnosed annually. Historically, PID has been a clinical diagnosis supplemented with the findings from ultrasonography (US) or magnetic resonance (MR) imaging. However, the diagnosis of PID can be challenging because the clinical manifestations may mimic those of other pelvic and abdominal processes. Given the nonspecific clinical manifestations, computed tomography (CT) is commonly the first imaging examination performed...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Arturo Arias, Lilian Torres-Tobar, Gualberto Hernández, Deyanira Paipilla, Eduardo Palacios, Yahaira Torres, Julian Duran, Sebastian Ugarte U, Adriana Ardila-Sierra, Gabriel Castellanos
PURPOSE: Zika virus (ZIKV) infection is an emerging global threat and a public health problem in the Americas. Guillain-Barré syndrome (GBS) has been recently associated to ZIKV. This report presents a case series of GBS possibly associated to ZIKV. METHODS: Clinical and demographic data from patients with GBS treated in 5 intensive care units and with recent history of ZIKV in Cúcuta, Colombia were collected from December 1 2015 to April 30 2016. Electrophysiological examination, lumbar puncture, and reverse transcriptase-polymerase chain reaction for ZIKV were performed in 14, 10, and 1 patients, respectively...
August 18, 2016: Journal of Critical Care
Andreas M Kist, Dagrun Sagafos, Anthony M Rush, Cristian Neacsu, Esther Eberhardt, Roland Schmidt, Lars Kristian Lunden, Kristin Ørstavik, Luisa Kaluza, Jannis Meents, Zhiping Zhang, Thomas Hedley Carr, Hugh Salter, David Malinowsky, Patrik Wollberg, Johannes Krupp, Inge Petter Kleggetveit, Martin Schmelz, Ellen Jørum, Angelika Lampert, Barbara Namer
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a 53 year old patient with erythromelalgia by microneurography and patch-clamp techniques. Recordings of the patient's peripheral nerve fibers showed increased activity dependent slowing (ADS) in CMi and less spontaneous firing compared to a control group of erythromelalgia patients without Nav mutations...
2016: PloS One
Jing W Hughes, Jennifer A Wyckoff, Abby S Hollander, Colin P Derdeyn, Janet B McGill
CONTEXT: Moyamoya syndrome is an idiopathic brain vasculopathy characterized by stenosis of major intracranial arteries. It often presents in patients with type 1 diabetes or thyroid disease and may have an autoimmune etiology. Moyamoya-related stroke poses a diagnostic challenge as initial symptoms and deficits vary greatly from classic ischemic stroke to encephalopathy, psychiatric, or seizure disorder. CASE DESCRIPTION: We report 4 patients with type 1 diabetes and other autoimmune diseases who developed moyamoya-related stroke at a young age...
November 2016: Journal of Diabetes and its Complications
N C Hornig, M Ukat, H U Schweikert, O Hiort, R Werner, S L S Drop, M Cools, I A Hughes, L Audi, S F Ahmed, J Demiri, P Rodens, L Worch, G Wehner, A E Kulle, D Dunstheimer, E Müller-Roßberg, T Reinehr, A T Hadidi, A K Eckstein, C van der Horst, C Seif, R Siebert, O Ammerpohl, P-M Holterhus
CONTEXT: Only about 85% of patients with clinical diagnosis complete androgen insensitivity syndrome (CAIS) and less than 30% with partial androgen insensitivity syndrome (PAIS) can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: To clarify this discrepancy by in-vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. DESIGN: Quantification of dihydrotestosterone (DHT)-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GF) (APOD-assay) and next generation sequencing (NGS) of the complete coding - and non-coding AR-locus...
September 1, 2016: Journal of Clinical Endocrinology and Metabolism
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