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https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#1
Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford, Euan A Ashley
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28628782/incorporation-of-a-health-economic-modelling-tool-into-public-health-commissioning-evidence-use-in-a-politicised-context
#2
Tom Sanders, Amy Grove, Sarah Salway, Susan Hampshaw, Elizabeth Goyder
This paper explores how commissioners working in an English local government authority (LA) viewed a health economic decision tool for planning services in relation to diabetes. We conducted 15 interviews and 2 focus groups between July 2015 and February 2016, with commissioners (including public health managers, data analysts and council members). Two overlapping themes were identified explaining the obstacles and enablers of using such a tool in commissioning: a) evidence cultures, and b) system interdependency...
June 12, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28609448/%C3%AE-copaene-is-an-attractant-synergistic-with-quercivorol-for-improved-detection-of-euwallacea-nr-fornicatus-coleoptera-curculionidae-scolytinae
#3
Paul E Kendra, David Owens, Wayne S Montgomery, Teresa I Narvaez, Gary R Bauchan, Elena Q Schnell, Nurhayat Tabanca, Daniel Carrillo
The tea shot-hole borer, Euwallacea fornicatus Eichhoff, is an ambrosia beetle endemic to Asia and a pest of commercial tea, Camellia sinensis (L.) Kuntze. Recently, a complex of species morphologically similar to E. fornicatus has been recognized, which includes new pests established in Israel and the USA, both in California and Florida. Collectively termed E. nr. fornicatus, these cryptic species carry symbiotic Fusarium spp. fungi, some of which cause dieback disease in susceptible hosts, which include avocado, Persea americana Miller...
2017: PloS One
https://www.readbyqxmd.com/read/28605964/impact-of-a-freeway-on-the-dispersal-of-ticks-and-ixodes-ricinus-borne-pathogens-forested-resting-areas-may-become-lyme-disease-hotspots
#4
Sándor Hornok, Maria Mulvihill, Krisztina Szőke, Enikő Gönczi, Kinga M Sulyok, Miklós Gyuranecz, Regina Hofmann-Lehmann
Man-made barriers are well known for their effects on ecosystems. Habitat fragmentation, for instance, is a recognised consequence of modern-day infrastructure. The aim of the present study was to investigate the diversity and abundance of tick species, as well as the risks of acquiring tick-borne infections in habitats adjacent to a freeway. Therefore, ixodid ticks were collected from the vegetation at two-week intervals (in the main tick season, from March to June) in eight habitats of different types (forest, grove, grassland) along both sides of a freeway...
June 2017: Acta Veterinaria Hungarica
https://www.readbyqxmd.com/read/28595377/characterization-of-tools-to-detect-and-enrich-human-and-mouse-o-glcnacase
#5
Jennifer A Groves, Natasha E Zachara
O-linked β-N-acetylglucosamine (O-GlcNAc) is an essential regulatory post-translational modification of thousands of nuclear, cytoplasmic, and mitochondrial proteins. O-GlcNAc is dynamically added and removed from proteins by the O-GlcNAc transferase and the O-GlcNAcase (OGA), respectively. Dysregulation of O-GlcNAc-cycling is implicated in the etiology of numerous diseases including tumorigenesis, metabolic dysfunction, and neurodegeneration. To facilitate studies focused on the role of O-GlcNAc and OGA in disease, we sought to identify commercially available antibodies that enable the enrichment of full-length OGA from lysates of mouse and human origin...
June 8, 2017: Glycobiology
https://www.readbyqxmd.com/read/28534660/radiation-induced-pulmonary-fibrosis-as-a-model-of-progressive-fibrosis-contributions-of-dna-damage-inflammatory-response-and-cellular-senescence-genes
#6
Tyler A Beach, Carl J Johnston, Angela M Groves, Jacqueline P Williams, Jacob N Finkelstein
Purpose/Aim of Study: Studies of pulmonary fibrosis (PF) have resulted in DNA damage, inflammatory response, and cellular senescence being widely hypothesized to play a role in the progression of the disease. Utilizing these aforementioned terms, genomics databases were interrogated along with the term, "pulmonary fibrosis," to identify genes common among all 4 search terms. Findings were compared to data derived from a model of radiation-induced progressive pulmonary fibrosis (RIPF) to verify that these genes are similarly expressed, supporting the use of radiation as a model for diseases involving PF, such as human idiopathic pulmonary fibrosis (IPF)...
April 2017: Experimental Lung Research
https://www.readbyqxmd.com/read/28532656/the-il-33-st2-axis-is-crucial-in-type-2-airway-responses-induced-by-the-staphylococcus-aureus-protease-spld
#7
Andrea R Teufelberger, Maria Nordengrün, Harald Braun, Tania Maes, Katrien De Grove, Gabriele Holtappels, Clara O'Brien, Sharen Provoost, Hamida Hammad, Amanda Gonçalves, Rudi Beyaert, Wim Declercq, Peter Vandenabeele, Dmitri V Krysko, Barbara M Bröker, Claus Bachert, Olga Krysko
BACKGROUND: Chronic airway inflammatory diseases such as chronic rhinosinusitis with nasal polyps and asthma showed increased nasal Staphylococcus aureus (S. aureus) colonization. Serine protease like protein D (SplD) and other closely related proteases secreted by S. aureus have recently been identified as inducers of allergic asthma in humans and mice but their mechanism of action is largely unknown. OBJECTIVE: We investigated the role of recombinant SplD in driving Th2-biased responses and IgE formation in a murine model of allergic asthma...
May 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28523001/the-role-of-transient-receptor-potential-vanilloid-4-in-pulmonary-inflammatory-diseases
#8
REVIEW
Rachel G Scheraga, Brian D Southern, Lisa M Grove, Mitchell A Olman
Ion channels/pumps are essential regulators of organ homeostasis and disease. In the present review, we discuss the role of the mechanosensitive cation channel, transient receptor potential vanilloid 4 (TRPV4), in cytokine secretion and pulmonary inflammatory diseases such as asthma, cystic fibrosis (CF), and acute lung injury/acute respiratory distress syndrome (ARDS). TRPV4 has been shown to play a role in lung diseases associated with lung parenchymal stretch or stiffness. TRPV4 indirectly mediates hypotonicity-induced smooth muscle contraction and airway remodeling in asthma...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28489475/antithrombotic-strategies-for-preventing-long-term-major-adverse-cardiovascular-events-in-patients-with-non-valvular-atrial-fibrillation-who-undergo-percutaneous-coronary-intervention
#9
Manan Pareek, Deepak L Bhatt, Jürrien M Ten Berg, Steen D Kristensen, Erik L Grove
Balancing the risk of recurrent ischemia and bleeding among patients with non-valvular atrial fibrillation who undergo percutaneous coronary intervention (PCI) is challenging. Postprocedural antithrombotic therapy aims to reduce the risk related to coronary artery disease, stent placement, and atrial fibrillation, with acceptable risks of bleeding. Areas covered: This review summarizes evidence and recommendations related to long-term antithrombotic strategies in such patients. An overview of the findings from recent meta-analyses and select observational studies is provided, and important completed and ongoing randomized trials are described in detail...
June 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28487533/spatial-and-temporal-patterns-of-commercial-citrus-trees-affected-by-phyllosticta-citricarpa-in-florida
#10
Katherine E Hendricks, Mary Christman, Pamela D Roberts
Citrus black spot (CBS) caused by Phyllosticta citricarpa, is the most recent introduction of an exotic citrus pathogen into Florida and has been a challenge to control to date. Understanding the dispersal pattern of the disease within affected groves is vital in developing effective control strategies to limit the spread of the disease. The spatial pattern of CBS-affected trees was studied in two commercial 'Valencia' orange groves over three consecutive citrus seasons. Cluster analyses based on nearest-neighbor distance (F, G and J-functions) and pairwise distances between points (Ripley's K function, Besag's L function and the pair correlation function, g) were used to test the hypothesis of complete spatial randomness (CSR) of CBS infected trees within the groves...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28473668/molecular-breath-analysis-identifies-the-breathprint-of-renal-failure
#11
Sevag Demirjian, Kelly M Paschke, Xiaofeng Wang, David Grove, Robert J Heyka, Raed A Dweik
Many uremic solutes retained in chronic kidney disease are volatile, and can be detected by breath testing. We compared the exhaled breath of subjects with end stage renal disease (ESRD) to healthy volunteers to identify volatile compounds that can serve as a potential breathprint for renal failure. We analyzed the exhaled breath of 86 ESRD subjects and 25 healthy volunteers using selected-ion flow-tube mass spectrometry (SIFT-MS). Using a random forests classification model, we identified three known volatiles (2-propanol, ammonia, acetaldehyde) and two unknown volatiles ([Formula: see text] NO(+)76) that were highly significant for discriminating individuals with renal failure from individuals without renal failure (C statistic > 0...
June 12, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28464835/streamlining-staging-of-lung-and-colorectal-cancer-with-whole-body-mri-study-protocols-for-two-multicentre-non-randomised-single-arm-prospective-diagnostic-accuracy-studies-streamline-c-and-streamline-l
#12
Stuart A Taylor, Sue Mallett, Anne Miles, Sandy Beare, Gauraang Bhatnagar, John Bridgewater, Rob Glynne-Jones, Vicky Goh, Ashley M Groves, Sam M Janes, Dow Mu Koh, Steve Morris, Alison Morton, Neal Navani, Alf Oliver, Anwar R Padhani, Shonit Punwani, Andrea G Rockall, Steve Halligan
BACKGROUND AND AIMS: Rapid and accurate cancer staging following diagnosis underpins patient management, in particular the identification of distant metastatic disease. Current staging guidelines recommend sequential deployment of various imaging platforms such as computerised tomography (CT) and positron emission tomography (PET) which can be time and resource intensive and onerous for patients. Recent studies demonstrate that whole body magnetic resonance Imaging (WB-MRI) may stage cancer efficiently in a single visit, with potentially greater accuracy than current staging investigations...
May 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28452792/epidermolysis-bullosa-acquisita-brunsting-perry-pemphigoid-variant-localized-to-the-face-and-diagnosed-with-antigen-identification-using-skin-deficient-in-type-vii-collagen
#13
Leila Asfour, Heung Chong, John Mee, Richard Groves, Manuraj Singh
Brunsting-Perry pemphigoid is defined as an autoimmune vesiculobullous eruption typically localized on the head and neck region with minimal or no mucosal involvement. The disease tends to run a chronic and recurrent course with residual scarring. Histological features are characterized by subepidermal bullae and linear IgG deposits at the dermo-epidermal junction. We report a case of a 46-year-old lady who presented with typical features of Brunsting-Perry pemphigoid. Autoantibodies to type VII collagen were identified by using recessive dystrophic epidermolysis bullosa skin which lacks type VII collagen in an indirect immunofluorescence assay...
July 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28442232/a-genetic-risk-score-predicts-cardiovascular-events-in-patients-with-stable-coronary-artery-disease
#14
Morten Krogh Christiansen, Mette Nyegaard, Sanne Bøjet Larsen, Erik Lerkevang Grove, Morten Würtz, Søs Neergaard-Petersen, Anne-Mette Hvas, Henrik Kjærulf Jensen, Steen Dalby Kristensen
BACKGROUND: Genetic risk scores (GRSs) may predict cardiovascular risk in community-based populations. However, studies investigating the association with recurrent cardiovascular events in patients with established coronary artery disease (CAD) are conflicting. METHODS: We genotyped 879 patients with high-risk stable CAD and created a GRS based on 45 single nucleotide polymorphisms previously reported to be associated with CAD in genome-wide association studies...
April 19, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28436258/thrombopoietin-and-platelet-aggregation-in-patients-with-stable-coronary-artery-disease
#15
Sanne Bøjet Larsen, Erik Lerkevang Grove, Søs Neergaard-Petersen, Morten Würtz, Anne-Mette Hvas, Steen Dalby Kristensen
Thrombopoietin (TPO) may facilitate platelet activation and aggregation. However, data on the impact of TPO on platelet aggregation in patients with stable coronary artery disease (CAD) are scarce. We aimed to investigate associations between TPO and platelet aggregation and activation in patients with stable coronary artery disease (CAD). We studied 900 stable CAD patients. Serum TPO was assessed by ELISA. Platelet aggregation was evaluated using the Multiplate Analyzer (agonists: arachidonic acid [AA] and collagen) and the VerifyNow Aspirin Assay...
April 24, 2017: Platelets
https://www.readbyqxmd.com/read/28426676/economic-injury-levels-for-asian-citrus-psyllid-control-in-process-oranges-from-mature-trees-with-high-incidence-of-huanglongbing
#16
Cesar Monzo, Philip A Stansly
The Asian citrus psyllid (ACP), Diaphorina citri Kuwayama, is the key pest of citrus wherever it occurs due to its role as vector of huanglongbing (HLB) also known as citrus greening disease. Insecticidal vector control is considered to be the primary strategy for HLB management and is typically intense owing to the severity of this disease. While this approach slows spread and also decreases severity of HLB once the disease is established, economic viability of increasingly frequent sprays is uncertain. Lacking until now were studies evaluating the optimum frequency of insecticide applications to mature trees during the growing season under conditions of high HLB incidence...
2017: PloS One
https://www.readbyqxmd.com/read/28391862/chemical-and-canine-analysis-as-complimentary-techniques-for-the-identification-of-active-odors-of-the-invasive-fungus-raffaelea-lauricola
#17
Alison G Simon, DeEtta K Mills, Kenneth G Furton
Raffaelea lauricola, a fungus causing a vascular wilt (laurel wilt) in Lauraceae trees, was introduced into the United States in the early 2000s. It has devastated forests in the Southeast and has now moved into the commercial avocado groves in southern Florida. Trained detection canines are currently one of the few successful methods for early detection of pre-symptomatic diseased trees. In order to achieve the universal and frequent training required to have successful detection canines, it is desirable to create accessible, safe, and long-lasting training aids...
June 1, 2017: Talanta
https://www.readbyqxmd.com/read/28362959/cubital-tunnel-syndrome-incidence-and-demographics-in-a-national-administrative-database
#18
Daniel A Osei, Andrew P Groves, Kerry Bommarito, Wilson Z Ray
BACKGROUND: Compressive neuropathy of the ulnar nerve at the elbow, or cubital tunnel syndrome (CuTS), is the second most common entrapment neuropathy of the upper extremity after carpal tunnel syndrome. While several studies have reported risk factors and outcomes for select populations (mostly surgical), it is difficult to interpret these data without an accurate measure of CuTS disease burden in the general population. OBJECTIVE: To estimate the incidence of CuTS among US health plan enrollees, using a large administrative health care claims database comprised of individuals from all 50 states...
March 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28319824/effect-of-long-term-remote-ischaemic-conditioning-on-platelet-function-and-fibrinolysis-in-patients-with-chronic-ischaemic-heart-failure
#19
Kasper Pryds, Jacobina Kristiansen, Søs Neergaard-Petersen, Roni R Nielsen, Michael R Schmidt, Jens Refsgaard, Steen D Kristensen, Hans Erik Bøtker, Anne-Mette Hvas, Erik L Grove
INTRODUCTION: Remote ischaemic conditioning (RIC) protects against ischaemia-reperfusion injury through cellular protective pathways, but may also modulate haemostasis. We aimed to investigate the effect of long-term RIC on platelet function and fibrinolysis in patients with chronic ischaemic heart failure (CIHF). MATERIAL AND METHODS: In a prospective, outcome-assessor blinded, paired study, 16 patients with CIHF and 21 age- and gender-matched controls without ischaemic heart disease (IHD) were treated with RIC once daily for 28±4days...
March 10, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28296956/equifat-a-novel-scoring-system-for-the-semi-quantitative-evaluation-of-regional-adipose-tissues-in-equidae
#20
Philippa K Morrison, Patricia A Harris, Charlotte A Maltin, Dai Grove-White, Caroline McG Argo
Anatomically distinct adipose tissues represent variable risks to metabolic health in man and some other mammals. Quantitative-imaging of internal adipose depots is problematic in large animals and associations between regional adiposity and health are poorly understood. This study aimed to develop and test a semi-quantitative system (EQUIFAT) which could be applied to regional adipose tissues. Anatomically-defined, photographic images of adipose depots (omental, mesenteric, epicardial, rump) were collected from 38 animals immediately post-mortem...
2017: PloS One
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