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norrie's disease

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https://www.readbyqxmd.com/read/29158428/borrelia-burgdorferi-glycosaminoglycan-binding-protein-bgp-in-the-b31-strain-is-not-essential-for-infectivity-despite-facilitating-adherence-and-tissue-colonization
#1
Samantha Schlachter, Janakiram Seshu, Tao Lin, Steven Norris, Nikhat Parveen
Lyme disease causing Borrelia burgdorferi is transmitted into the mammalian host by an infected tick bite. Successful infection relies on the ability of this extracellular pathogen to persist and colonize different tissues. B. burgdorferi encodes a large number of adhesins that are able to interact with host ligands to facilitate adherence, and tissue colonization. Multiple glycosaminoglycan binding proteins presence in B. burgdorferi offer a degree of redundancy of function during infection, and highlights the importance for glycosaminoglycans as host cell receptors for spirochete adherence...
November 20, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/29146660/changing-physical-activity-behaviour-for-people-with-multiple-sclerosis-protocol-of-a-randomised-controlled-feasibility-trial-istep-ms
#2
Jennifer M Ryan, Jennifer Fortune, Andrea Stennett, Cherry Kilbride, Nana Anokye, Christina Victor, Wendy Hendrie, Mohamed Abdul, Lorraine DeSouza, Grace Lavelle, Debbie Brewin, Lee David, Meriel Norris
INTRODUCTION: Although physical activity may reduce disease burden, fatigue and disability, and improve quality of life among people with multiple sclerosis (MS), many people with MS are physically inactive and spend significant time in sedentary behaviour. Behaviour change interventions may assist people with MS to increase physical activity and reduce sedentary behaviour. However, few studies have investigated their effectiveness using objective measures of physical activity, particularly in the long term...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29143791/dietary-and-endogenous-sphingolipid-metabolism-in-chronic-inflammation
#3
REVIEW
Gregory H Norris, Christopher N Blesso
Chronic inflammation is a common underlying factor in many major metabolic diseases afflicting Western societies. Sphingolipid metabolism is pivotal in the regulation of inflammatory signaling pathways. The regulation of sphingolipid metabolism is in turn influenced by inflammatory pathways. In this review, we provide an overview of sphingolipid metabolism in mammalian cells, including a description of sphingolipid structure, biosynthesis, turnover, and role in inflammatory signaling. Sphingolipid metabolites play distinct and complex roles in inflammatory signaling and will be discussed...
October 28, 2017: Nutrients
https://www.readbyqxmd.com/read/29133643/next-generation-sequencing-reveals-a-novel-ndp-gene-mutation-in-a-chinese-family-with-norrie-disease
#4
Xiaoyan Huang, Mao Tian, Jiankang Li, Ling Cui, Min Li, Jianguo Zhang
PURPOSE: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. METHODS: To identify the causative gene, next-generation sequencing based target capture sequencing was performed...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29129607/polymorphisms-in-hla-c-and-kir-alleles-are-not-associated-with-ham-tsp-risk-in-htlv-1-infected-subjects
#5
Tatiane Assone, Fernanda M Malta, Sonia Bakkour, Leilani Montalvo, Arthur M Paiva, Jerusa Smid, Augusto César Penalva de Oliveira, Fernanda de Toledo Gonçalves, Olinda do Carmo Luiz, Luiz Augusto M Fonseca, Philip J Norris, Jorge Casseb
INTRODUCTION: Several genetic polymorphisms may be related to susceptibility or resistance to viral disease outcomes. Immunological or genetic factors may act as major triggers of the immune pathogenesis of HAM/TSP. This study investigated the association of immune related genetic polymorphisms with viral and immunological markers. METHODS: 247 HTLV-1-infected volunteers, drawn from a larger group of HTLV-infected subjects followed at the Institute of Infectious Diseases "Emilio Ribas" (IIER) for up to 19 years, participated in this study, which ran from June 2011 to July 2016...
November 10, 2017: Virus Research
https://www.readbyqxmd.com/read/29119519/brief-report-physical-activity-body-mass-index-and-arterial-stiffness-in-children-with-autism-spectrum-disorder-preliminary-findings
#6
Kevin S Heffernan, Luis Columna, Natalie Russo, Beth A Myers, Christine E Ashby, Michael L Norris, Tiago V Barreira
We examined the association between physical activity (PA), body mass index (BMI) and novel measures of subclinical cardiovascular disease (CVD) in 15 children with autism spectrum disorder (ASD) (mean age 7 ± 2 years, 2 girls). PA was objectively assessed using accelerometry as time spent in moderate-vigorous physical activity (MVPA). Arterial stiffness was measured via aortic pulse wave velocity (PWV) and taken as a marker of subclinical CVD risk. MVPA was inversely associated with aortic PWV (r = - 0...
November 8, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29096604/predicting-operative-mortality-in-octogenarians-for-isolated-coronary-artery-bypass-grafting-surgery-a-retrospective-study
#7
Jessica G Y Luc, Michelle M Graham, Colleen M Norris, Sadek Al Shouli, Yugmel S Nijjar, Steven R Meyer
BACKGROUND: Available cardiac surgery risk scores have not been validated in octogenarians. Our objective was to compare the predictive ability of the Society of Thoracic Surgeons (STS) score, EuroSCORE I, and EuroSCORE II in elderly patients undergoing isolated coronary artery bypass grafting surgery (CABG). METHODS: All patients who underwent isolated CABG (2002 - 2008) were identified from the Alberta Provincial Project for Outcomes Assessment in Coronary Heart Disease (APPROACH) registry...
November 2, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29093534/logistic-growth-of-a-surface-contamination-network-and-its-role-in-disease-spread
#8
Hao Lei, Yuguo Li, Shenglan Xiao, Xinyan Yang, ChaoHsin Lin, Sharon L Norris, Daniel Wei, Zhongmin Hu, Shengcheng Ji
Surfaces and objects surround us, and touching them is integral to everyday life. Pathogen contaminated surfaces (fomites) are known to transmit diseases. However, little is known about the ways and speed at which surfaces become contaminated. We found that under certain conditions, the number of contaminated surfaces grows logistically, corresponding to possible rapid transmission of infection. In such a surface network, pathogen can be transmitted great distances quickly-as far as people move. We found that the surface contamination network in aircraft cabins exhibits a community structure, with small communities connected by the aisle seatback surfaces and toilets, which are high-touch surfaces...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29074496/treatment-of-advanced-glaucoma-study-a-multicentre-randomised-controlled-trial-comparing-primary-medical-treatment-with-primary-trabeculectomy-for-people-with-newly-diagnosed-advanced-glaucoma-study-protocol
#9
Anthony J King, Gordon Fernie, Augusto Azuara-Blanco, Jennifer M Burr, Ted Garway-Heath, John M Sparrow, Luke Vale, Jemma Hudson, Graeme MacLennan, Alison McDonald, Keith Barton, John Norrie
BACKGROUND: Presentation with advanced glaucoma is the major risk factor for lifetime blindness. Effective intervention at diagnosis is expected to minimise risk of further visual loss in this group of patients. AIM: To compare clinical and cost-effectiveness of primary medical management compared with primary surgery for people presenting with advanced open-angle glaucoma (OAG). METHODS: Design: A prospective, pragmatic multicentre randomised controlled trial (RCT)...
October 26, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29072305/life-history-theory-hypotheses-on-child-growth-potential-implications-for-short-and-long-term-child-growth-development-and-health
#10
EDITORIAL
Rihlat Said-Mohamed, John M Pettifor, Shane A Norris
Life history theory integrates ecological, physiological, and molecular layers within an evolutionary framework to understand organisms' strategies to optimize survival and reproduction. Two life history hypotheses and their implications for child growth, development, and health (illustrated in the South African context) are reviewed here. One hypothesis suggests that there is an energy trade-off between linear growth and brain growth. Undernutrition in infancy and childhood may trigger adaptive physiological mechanisms prioritizing the brain at the expense of body growth...
October 26, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/29064168/high-prevalence-of-hiv-and-non-communicable-disease-ncd-risk-factors-in-rural-kwazulu-natal-south-africa
#11
Alastair van Heerden, Ruanne V Barnabas, Shane A Norris, Lisa K Micklesfield, Heidi van Rooyen, Connie Celum
INTRODUCTION: South Africa faces epidemics of HIV and non-communicable diseases (NCDs). The aim of this study was to characterize the prevalence of non-communicable disease risk factors and depression, stratified by HIV status, in a community with a high burden of HIV. METHODS: We conducted a home-based HIV counselling and testing study in KwaZulu-Natal, South Africa between November 2011 and June 2012. Contiguous households were approached and all adults ≥18 years old were offered an HIV test...
October 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/29061178/intensive-procedure-preferences-at-the-end-of-life-eol-in-older-latino-adults-with-end-stage-renal-disease-esrd-on-dialysis
#12
Karla Gonzalez, Jesus G Ulloa, Gerardo Moreno, Oscar Echeverría, Keith Norris, Efrain Talamantes
BACKGROUND: Latinos in the U.S. are almost twice as likely to progress to End Stage Renal disease (ESRD) compared to non-Latino whites. Patients with ESRD on dialysis experience high morbidity, pre-mature mortality and receive intensive procedures at the end of life (EOL). This study explores intensive procedure preferences at the EOL in older Latino adults. METHODS: Seventy-three community-dwelling Spanish- and English-Speaking Latinos over the age of 60 with and without ESRD participated in this study...
October 23, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29054555/evidence-based-guidelines-for-supportive-care-of-patients-with-ebola-virus-disease
#13
François Lamontagne, Robert A Fowler, Neill K Adhikari, Srinivas Murthy, David M Brett-Major, Michael Jacobs, Timothy M Uyeki, Constanza Vallenas, Susan L Norris, William A Fischer, Thomas E Fletcher, Adam C Levine, Paul Reed, Daniel G Bausch, Sandy Gove, Andrew Hall, Susan Shepherd, Reed A Siemieniuk, Marie-Claude Lamah, Rashida Kamara, Phiona Nakyeyune, Moses J Soka, Ama Edwin, Afeez A Hazzan, Shevin T Jacob, Mubarak Mustafa Elkarsany, Takuya Adachi, Lynda Benhadj, Christophe Clément, Ian Crozier, Armando Garcia, Steven J Hoffman, Gordon H Guyatt
The 2013-16 Ebola virus disease outbreak in west Africa was associated with unprecedented challenges in the provision of care to patients with Ebola virus disease, including absence of pre-existing isolation and treatment facilities, patients' reluctance to present for medical care, and limitations in the provision of supportive medical care. Case fatality rates in west Africa were initially greater than 70%, but decreased with improvements in supportive care. To inform optimal care in a future outbreak of Ebola virus disease, we employed the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology to develop evidence-based guidelines for the delivery of supportive care to patients admitted to Ebola treatment units...
October 17, 2017: Lancet
https://www.readbyqxmd.com/read/29020406/new-insights-into-mitral-valve-dystrophy-a-filamin-a-genotype-phenotype-and-outcome-study
#14
Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J J Aalberts, Simon Lecointe, Jean Mérot, Jonathan A Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N Delling, Romain Capoulade, Albert J H Suurmeijer, David Milan, Russell A Norris, Roger Markwald, Elena Aikawa, Susan A Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott
Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral valve apparatus in comparison with control relatives...
September 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29016701/modifying-alcohol-consumption-to-reduce-obesity-a-randomized-controlled-feasibility-study-of-a-complex-community-based-intervention-for-men
#15
Linda Irvine, Iain K Crombie, Kathryn B Cunningham, Brian Williams, Falko F Sniehotta, John Norrie, Ambrose J Melson, Claire Jones, Peter Rice, Peter W Slane, Marcus Achison, Andrew McKenzie, Elena D Dimova, Sheila Allan
Objectives: Being obese and drinking more than 14 units of alcohol per week places men at very high risk of developing liver disease. This study assessed the feasibility of a trial to reduce alcohol consumption. It tested the recruitment strategy, engagement with the intervention, retention and study acceptability. Methods: Men aged 35-64 years who drank >21 units of alcohol per week and had a BMI > 30 were recruited by two methods: from GP patient registers and by community outreach...
September 18, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28987811/the-interferon-gene-signature-is-increased-in-early-treatment-na%C3%A3-ve-rheumatoid-arthritis-and-predicts-a-poorer-response-to-initial-therapy
#16
Faye Ah Cooles, Amy E Anderson, Dennis W Lendrem, Julie Norris, Arthur G Pratt, Catharien Hilkens, John D Isaacs
The interferon gene signature in early, disease modifying drug naïve rheumatoid arthritis predicts clinical outcomes at 6 months after therapy initiation. We suggest type 1 interferons may be a future therapeutic target in early RA.
October 5, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28964419/long-term-outcomes-after-surgical-pulmonary-arterioplasty-and-risk-factors-for-reintervention
#17
Nicole M Cresalia, Aimee K Armstrong, Jennifer C Romano, Mark D Norris, Sunkyung Yu, Albert P Rocchini, Jeffrey D Zampi
BACKGROUND: Although surgical patch arterioplasty is the conventional therapy for branch pulmonary artery (PA) stenosis, limited data exist on long-term outcomes. We examined the incidence of and risk factors for reintervention after surgical arterioplasty for branch PA stenosis in biventricular congenital heart disease. METHODS: This retrospective cohort study included patients with 2-ventricle physiology who underwent patch arterioplasty for PA stenosis at a single high-volume congenital heart center during a 10-year period...
September 27, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28963100/meditation-and-cardiovascular-risk-reduction-a-scientific-statement-from-the-american-heart-association
#18
Glenn N Levine, Richard A Lange, C Noel Bairey-Merz, Richard J Davidson, Kenneth Jamerson, Puja K Mehta, Erin D Michos, Keith Norris, Indranill Basu Ray, Karen L Saban, Tina Shah, Richard Stein, Sidney C Smith
Despite numerous advances in the prevention and treatment of atherosclerosis, cardiovascular disease remains a leading cause of morbidity and mortality. Novel and inexpensive interventions that can contribute to the primary and secondary prevention of cardiovascular disease are of interest. Numerous studies have reported on the benefits of meditation. Meditation instruction and practice is widely accessible and inexpensive and may thus be a potential attractive cost-effective adjunct to more traditional medical therapies...
September 28, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28953773/cochlear-implants-and-psychiatric-assessments-a-norrie-disease-case-report
#19
Denis Jacques, Thomas Dubois, Nicolas Zdanowicz, Chantal Gilain, Pierre Garin
BACKGROUND: It is important to perform psychiatric assessments of adult patients who are candidates for cochlear implants both to screen them for psychiatric disorders and to assess their understanding and compliance with the procedure. Deafness is a factor of difficulty for conducting in-depth psychiatric interviews, but concomitant blindness may make it impossible. SUBJECTS AND METHOD: After a description of Norrie disease, a rare disease in which blindness and deafness may occur together, we propose a case report of a patient suffering from the disease and who consulted in view of a cochlear implant...
September 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28922694/a-novel-c-240_241insgg-mutation-in-ndp-gene-in-a-family-with-norrie-disease
#20
Monavvar Andarva, Javad Jamshidi, Hamid Ghaedi, Narsis Daftarian, Babak Emamalizadeh, Elham Alehabib, Shaghyegh Taghavi, Ramin Pouriran, Hossein Darvish
BACKGROUND: Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. METHODS: Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. RESULTS: A GG dinucleotide insertion in exon 3 (c...
September 18, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
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