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norrie's disease

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https://www.readbyqxmd.com/read/28636638/outcomes-from-a-large-10-year-hepatitis-c-treatment-programme-in-people-who-inject-drugs-no-effect-of-recent-or-former-injecting-drug-use-on-treatment-adherence-or-therapeutic-response
#1
Omar Elsherif, Ciaran Bannan, Shay Keating, Susan McKiernan, Colm Bergin, Suzanne Norris
BACKGROUND AND AIMS: People who inject drugs (PWID) are historically viewed as having "difficult to treat" hepatitis C disease, with perceived inferior treatment adherence and outcomes, and concerns regarding reinfection risk. We evaluated for differences in treatment adherence and response to Peginterferon-alfa-2a/Ribavirin (Peg-IFNα/RBV) in a large urban cohort with and without a history of remote or recent injection drug use. METHODS: Patient data was retrospectively reviewed for 1000 consecutive patients-608 former (no injecting drug use for 6 months of therapy), 85 recent (injecting drug use within 6 months) PWID, and 307 non-drug users who were treated for chronic hepatitis C with Peg-IFNα/RBV...
2017: PloS One
https://www.readbyqxmd.com/read/28633388/sex-obesity-and-blood-pressure-among-african-american-adolescents-the-jackson-heart-kids-pilot-study
#2
Marino A Bruce, Bettina M Beech, Keith C Norris, Derek M Griffith, Mario Sims, Roland J Thorpe
BACKGROUND: This study examined the degree to which sex, weight status, and the presence of hypertension and obesity in parents/grandparents were associated with systolic (SBP) and diastolic (DBP) blood pressure (BP) among African American youth in a pilot offspring study examining obesity-related cardiovascular disease (CVD) risks among adolescents. RESULTS: Fully adjusted linear regression models of the total sample produced results indicating that obesity was associated with BP (SBP: β = 7...
June 15, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28623943/does-metabolic-syndrome-predict-surgical-complications-a-protocol-for-a-systematic-review-and-meta-analysis
#3
Philip Norris, Nicholas Ralph, Clint Moloney
BACKGROUND: Metabolic syndrome (MetS) is defined by an accumulation of risk factors that include cardiovascular disease, diabetes, chronic high blood pressure, obesity, and hypercholesterolaemia which results in an increased risk of developing serious chronic diseases. MetS is widespread as it is estimated to affect up to 30% of the global population. For people with MetS who undergo surgery, an emerging body of literature points to significantly poorer postoperative outcomes compared with non-affected populations...
June 17, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28602015/clinical-and-genetic-analysis-of-indian-patients-with-ndp-related-retinopathies
#4
Dhandayuthapani Sudha, Aparna Ganapathy, Puja Mohan, Ashraf U Mannan, Shuba Krishna, Srividya Neriyanuri, Meenakshi Swaminathan, Pukhraj Rishi, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam
PURPOSE: NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies. METHODS: The patients underwent complete ophthalmic examination followed by genetic analyses...
June 10, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28594302/ectopic-orbital-meningioma-fact-or-fiction
#5
Lee Teak Tan, Christopher M Stewart, Fintan Sheerin, Brendan MacDonald, Priy Silva, Jonathan H Norris
Primary intraorbital ectopic meningiomas are rare and their existence remains controversial. We present a 30-year-old female with painless, non-axial proptosis and a palpable superomedial mass. The MRI demonstrated that the mass had no optic nerve sheath or sphenoid wing involvement and was initially reported to have no intracranial extension. The patient was initially thought to have an ectopic orbital meningioma. Subsequent multidisciplinary team (MDT) consultation and further specialist review of the MRI revealed a subtle dural tail connecting to an enhancing mass in the olfactory groove...
June 2017: Orbit
https://www.readbyqxmd.com/read/28592242/an-avirulent-burkholderia-pseudomallei-%C3%A2-purm-strain-with-atypical-type-b-lps-expansion-of-the-toolkit-for-biosafe-studies-of-melioidosis
#6
Michael H Norris, Md Siddiqur Rahman Khan, Herbert P Schweizer, Apichai Tuanyok
BACKGROUND: The work was undertaken to expand the tools available for researching Burkholderia pseudomallei (Bp), the etiological agent of the tropical disease melioidosis. Melioidosis has the potential to pose a severe threat to public health and safety. In the United States, Bp is listed as a Tier-1 select agent by the Centers for Disease Control and Prevention (CDC), thus requiring high levels of regulation and biosafety level 3 (BSL3) facilities for experimental manipulation of live organisms...
June 7, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28575130/long-term-consequences-of-developmental-vascular-defects-on-retinal-vessel-homeostasis-and-function-in-a-mouse-model-of-norrie-disease
#7
Susanne C Beck, Yuxi Feng, Vithiyanjali Sothilingam, Marina Garcia Garrido, Naoyuki Tanimoto, Niyazi Acar, Shenliang Shan, Britta Seebauer, Wolfgang Berger, Hans-Peter Hammes, Mathias W Seeliger
Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developmental period, we focus here on disease mechanisms that induce progression into severe adult disease. The goal of this study was the comprehensive analysis of the long-term effects of the absence of Norrin on vascular homeostasis and retinal function. In a mouse model of Norrie disease retinal vascular morphology and integrity were studied by means of in vivo angiography; the vascular constituents were assessed in detailed histological analyses using quantitative retinal morphometry...
2017: PloS One
https://www.readbyqxmd.com/read/28559377/calcineurin-nfat-signaling-in-activated-astrocytes-drives-network-hyperexcitability-in-a%C3%AE-bearing-mice
#8
Pradoldej Sompol, Jennifer L Furman, Melanie M Pleiss, Susan D Kraner, Irina A Artiushin, Seth R Batten, Jorge E Quintero, Linda A Simmerman, Tina L Beckett, Mark A Lovell, M Paul Murphy, Greg A Gerhardt, Christopher M Norris
Hyperexcitable neuronal networks are mechanistically-linked to the pathologic and clinical features of Alzheimer's disease (AD). Astrocytes are a primary defense against hyperexcitability, but their functional phenotype during AD is poorly understood. Here, we found that activated astrocytes in the 5xFAD mouse model were strongly associated with proteolysis of the protein phosphatase calcineurin (CN), and the elevated expression of the CN-dependent transcription factor, NFAT4. Intrahippocampal injections of AAV vectors containing the astrocyte specific promoter, Gfa2, and the NFAT inhibitory peptide, VIVIT, reduced signs of glutamate-mediated hyperexcitability in 5xFAD mice, measured in vivo with microelectrode arrays (MEA) and ex vivo brain slices, using whole-cell voltage clamp...
May 30, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28556366/a-role-for-primary-cilia-in-aortic-valve-development-and-disease
#9
Katelynn A Toomer, Diana Fulmer, Lilong Guo, Alex Drohan, Neal Peterson, Paige Swanson, Brittany Brooks, Rupak Mukherjee, Simon Body, Josh Lipschutz, Andy Wessels, Russell A Norris
BACKGROUND: Bicuspid aortic valve (BAV) disease is the most common congenital heart defect affecting 0.5-1.2% of the population and causes significant morbidity and mortality. Only a few genes have been identified in pedigrees and no single gene-model explains BAV inheritance, thus supporting a complex genetic network of interacting genes. However, patients with rare syndromic diseases that stem from alterations in the structure and function of primary cilia ("ciliopathies") exhibit BAV as a frequent cardiovascular finding, suggesting primary cilia may factor broadly in disease etiology...
May 27, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28555128/a-case-of-apparent-upper-body-freezing-in-parkinsonism-while-using-a-wheelchair
#10
Samuel T Nemanich, Marie E McNeely, Gammon M Earhart, Scott A Norris, Kevin J Black
Freezing of gait (FOG) is a common, disabling gait disturbance in Parkinson's disease (PD) and other Parkinsonian syndromes. Freezing also occurs during non-gait movements involving the upper limbs. The mechanisms underlying freezing are complex, likely involving motor, cognitive, and sensory systems that contribute to the episodes. Here, we reported a 60-year-old female with a 24-year history of parkinsonism who experienced significant FOG when ambulatory. Disease progression resulted in her permanent use of a powered wheelchair...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28511683/acute-coronary-syndrome-patients-admitted-to-a-cardiology-vs-non-cardiology-service-variations-in-treatment-outcome
#11
Deirdre E O'Neill, Danielle A Southern, Colleen M Norris, Blair J O'Neill, Helen J Curran, Michelle M Graham
BACKGROUND: Specialized cardiology services have contributed to reduced mortality in acute coronary syndromes (ACS).  We sought to evaluate the outcomes of ACS patients admitted to non-cardiology services in Southern Alberta. METHODS: Retrospective chart review performed on all troponin-positive patients in the Calgary Health Region identified those diagnosed with ACS by their attending team. Patients admitted to non-cardiology and cardiology services were compared, using linked data from the Alberta Provincial Project for Outcomes Assessment in Coronary Heart Disease (APPROACH) registry and the Strategic Clinical Network for Cardiovascular Health and Stroke...
May 16, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28505967/nfatc2-modulates-microglial-activation-in-the-a%C3%AE-pp-ps1-mouse-model-of-alzheimer-s-disease
#12
Gunjan D Manocha, Atreyi Ghatak, Kendra L Puig, Susan D Kraner, Christopher M Norris, Colin K Combs
Alzheimer's disease (AD) brains are characterized by fibrillar amyloid-β (Aβ) peptide containing plaques and associated reactive microglia. The proinflammatory phenotype of the microglia suggests that they may negatively affect disease course and contribute to behavioral decline. This hypothesis predicts that attenuating microglial activation may provide benefit against disease. Prior work from our laboratory and others has characterized a role for the transcription factor, nuclear factor of activated T cells (NFAT), in regulating microglial phenotype in response to different stimuli, including Aβ peptide...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28495247/hospital-variation-in-treatment-and-outcomes-in-acute-coronary-syndromes-insights-from-the-alberta-contemporary-acute-coronary-syndrome-patients-invasive-treatment-strategies-coapt-study
#13
Kevin R Bainey, Padma Kaul, Paul W Armstrong, Anamaria Savu, Cynthia M Westerhout, Colleen M Norris, Neil Brass, Dean Traboulsi, Blair O'Neill, Jayan Nagendran, Imtiaz Ali, Merril Knudtson, Robert C Welsh
BACKGROUND: We examined variation in hospital treatment and its relationship to clinical outcome in a large population-based cohort of ACS patients within a single payer-government funded health care system. METHODS: Patients hospitalized in 106 hospitals in Alberta, Canada with a primary diagnosis of ACS were included (July 1, 2010-March 31, 2013) with comparisons made across the three cardiac catheterization-capable hospitals (Sites A-C). Cox proportional-hazard regression models were used to examine the multivariable-adjusted association between site and 1-year death or repeat cardiovascular (CV) hospitalization (primary endpoint)...
May 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28493887/effect-of-lifestyle-interventions-on-cardiovascular-risk-factors-among-adults-without-impaired-glucose-tolerance-or-diabetes-a-systematic-review-and-meta-analysis
#14
Xuanping Zhang, Heather M Devlin, Bryce Smith, Giuseppina Imperatore, William Thomas, Felipe Lobelo, Mohammed K Ali, Keri Norris, Stephanie Gruss, Barbara Bardenheier, Pyone Cho, Isabel Garcia de Quevedo, Uma Mudaliar, Christopher D Jones, Jeffrey M Durthaler, Jinan Saaddine, Linda S Geiss, Edward W Gregg
Structured lifestyle interventions can reduce diabetes incidence and cardiovascular disease (CVD) risk among persons with impaired glucose tolerance (IGT), but it is unclear whether they should be implemented among persons without IGT. We conducted a systematic review and meta-analyses to assess the effectiveness of lifestyle interventions on CVD risk among adults without IGT or diabetes. We systematically searched MEDLINE, EMBASE, CINAHL, Web of Science, the Cochrane Library, and PsychInfo databases, from inception to May 4, 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28489479/biologics-and-dermatology-life-quality-index-dlqi-in-the-australasian-psoriasis-population
#15
Diana Norris, Louise Photiou, Mark Tacey, Con Dolianitis, George Varigos, Peter Foley, Chris Baker
BACKGROUND/OBJECTIVES: Psoriasis is a chronic condition that may require long-term treatment for disease control. This analysis utilises data from the Australasian Psoriasis Registry with particular attention to the impact of biologic therapy on DLQI, and the differences between the biologics in terms of DLQI score change. METHODS: A retrospective review of patients enrolled in the Australasian Psoriasis Registry from April 2008 to August 2016 was conducted. All subjects from the registry that had DLQI and Psoriasis Assessment Severity Index (PASI) scores recorded at a baseline timepoint of treatment commencement, in addition to week 12 and 24 post commencement were included in the study...
May 10, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28481980/large-cluster-of-neisseria-meningitidis-urethritis-in-columbus-ohio-2015
#16
Jose A Bazan, Abigail Norris Turner, Robert D Kirkcaldy, Adam C Retchless, Cecilia B Kretz, Elizabeth Briere, Yih-Ling Tzeng, David S Stephens, Courtney Maierhofer, Carlos Del Rio, A Jeanine Abrams, David L Trees, Melissa Ervin, Denisse B Licon, Karen S Fields, Mysheika Williams Roberts, Amanda Dennison, Xin Wang
Background.: Neisseria meningitidis (Nm) is a Gram-negative diplococcus that normally colonizes the nasopharynx and rarely infects the urogenital tract. On Gram stain of urethral exudates, Nm can be misidentified as the more common sexually transmitted pathogen Neisseria gonorrhoeae. Methods.: In response to a large increase in cases of Nm urethritis identified among men presenting for screening at a sexually transmitted disease clinic in Columbus, Ohio, we investigated the epidemiologic characteristics of men with Nm urethritis and the molecular and phylogenetic characteristics of their Nm isolates...
May 8, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28453531/structural-diversity-of-burkholderia-pseudomallei-lipopolysaccharides-affects-innate-immune-signaling
#17
Michael H Norris, Herbert P Schweizer, Apichai Tuanyok
Burkholderia pseudomallei (Bp) causes the disease melioidosis. The main cause of mortality in this disease is septic shock triggered by the host responding to lipopolysaccharide (LPS) components of the Gram-negative outer membrane. Bp LPS is thought to be a weak inducer of the host immune system. LPS from several strains of Bp were purified and their ability to induce the inflammatory mediators TNF-α and iNOS in murine macrophages at low concentrations was investigated. Innate and adaptive immunity qPCR arrays were used to profile expression patterns of 84 gene targets in response to the different LPS types...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28438752/igg4-related-disease-presenting-as-posterior-scleritis-and-vitritis-progressing-to-multifocal-orbital-involvement
#18
Gavin L Reynolds, Jonathan H Norris, Sher Aslam, Srilakshmi Sharma
IgG4-related disease (IgG4-RD) is a rare, chronic inflammatory condition that may involve nearly every organ system. Originally identified as a cause of autoimmune pancreatitis, its characteristic histological and clinical features have been found in a wide variety of inflammatory presentations, including the eye and orbit. Here we describe an example of a case of IgG4-RD initially presenting as scleritis and vitritis, with further progression to multifocal bilateral orbital involvement. Tissue biopsy of an orbital mass was highly characteristic of IgG4-RD histology and a rapid clinical response to corticosteroids was observed...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28430811/antimicrobial-resistance-in-coagulase-positive-staphylococci-isolated-from-companion-animals-in-australia-a-one-year-study
#19
Sugiyono Saputra, David Jordan, Kate A Worthing, Jacqueline M Norris, Hui S Wong, Rebecca Abraham, Darren J Trott, Sam Abraham
Methicillin-resistant coagulase-positive staphylococci (CoPS) have become increasingly recognised as opportunistic pathogens that limit therapeutic options in companion animals. The frequency of methicillin resistance amongst clinical isolates on an Australia-wide level is unknown. This study determined antimicrobial susceptibility patterns for CoPS isolated from clinical infections in companion animals (dogs, cats and horses) as part of the first nation-wide survey on antimicrobial resistance in animal pathogens in Australia for a one-year period (January 2013 to January 2014)...
2017: PloS One
https://www.readbyqxmd.com/read/28421638/renal-replacement-therapy-and-incremental-hemodialysis-for-veterans-with-advanced-chronic-kidney-disease
#20
Kamyar Kalantar-Zadeh, Susan T Crowley, Srinivasan Beddhu, Joline L T Chen, John T Daugirdas, David S Goldfarb, Anna Jin, Csaba P Kovesdy, David J Leehey, Hamid Moradi, Sankar D Navaneethan, Keith C Norris, Yoshitsugu Obi, Ann O'Hare, Tariq Shafi, Elani Streja, Mark L Unruh, Tushar J Vachharajani, Steven Weisbord, Connie M Rhee
Each year approximately 13,000 Veterans transition to maintenance dialysis, mostly in the traditional form of thrice-weekly hemodialysis from the start. Among >6000 dialysis units nationwide, there are currently approximately 70 Veterans Affairs (VA) dialysis centers. Given this number of VA dialysis centers and their limited capacity, only 10% of all incident dialysis Veterans initiate treatment in a VA center. Evidence suggests that, among Veterans, the receipt of care within the VA system is associated with favorable outcomes, potentially because of the enhanced access to healthcare resources...
May 2017: Seminars in Dialysis
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