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https://www.readbyqxmd.com/read/29212537/association-of-arms2-genotype-with-response-to-anti-vascular-endothelial-growth-factor-treatment-in-polypoidal-choroidal-vasculopathy
#1
Un Chul Park, Joo Young Shin, Hum Chung, Hyeong Gon Yu
BACKGROUND: To investigate whether genetic risk variants for age-related macular degeneration (AMD) are associated with response to intravitreal anti-vascular endothelial growth factor (VEGF) in polypoidal choroidal vasculopathy (PCV) patients. METHODS: This prospective cohort study included 95 treatment-naïve patients that underwent anti-VEGF treatment for PCV for 12 months. Patients were genotyped for 10 single nucleotide polymorphisms in eight AMD-relevant genes...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29204995/prevention-of-age-related-macular-degeneration
#2
Niharika Singh, Sangeetha Srinivasan, Vinata Muralidharan, Rupak Roy, Jayprakash V, Rajiv Raman
Age-related macular degeneration (AMD) compromises quality of life. However, the available therapeutic options are limited. This has led to the identification of modifiable risk factors to prevent the development or alter the natural course and prognosis of AMD. The identification and modification of risk factors has the potential for greater public health impact on reducing morbidity from AMD. Likewise, identifying the imaging clues and genetic clues could serve as a guide to recognizing the propensity for progression to severe and end stages of the disease...
November 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29197628/towards-the-application-of-precision-medicine-in-age-related-macular-degeneration
#3
REVIEW
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina
The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations...
November 29, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29154843/clinical-isolates-of-escherichia-coli-solely-resistant-to-mecillinam-prevalence-and-epidemiology
#4
Aurore Bousquet, Sarah Bugier, Sébastien Larréché, Christine Bigaillon, Philippe Weber, Hervé Delacour, Eric Valade, Dominique De Briel, Audrey Mérens
OBJECTIVES: We observed a particular resistance phenotype: an E. coli isolate from urine sample exhibited resistance to mecillinam (Amd) but was fully susceptible to other β-lactam antibiotics (Amd-R-BL-S). Our objectives were to determine the prevalence of this phenotype and to describe their phenotype, molecular epidemiology and genetic background. METHODS: Between the 1st Jan 2014 and the 31st Jan 2016, Amd-R-BL-S E. coli isolates from urine were collected. We analysed genes previously reported as mostly involved in Amd resistance...
November 14, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29152206/global-population-structure-and-adaptive-evolution-of-aflatoxin-producing-fungi
#5
Geromy G Moore, Rodrigo A Olarte, Bruce W Horn, Jacalyn L Elliott, Rakhi Singh, Carolyn J O'Neal, Ignazio Carbone
Aflatoxins produced by several species in Aspergillus section Flavi are a significant problem in agriculture and a continuous threat to human health. To provide insights into the biology and global population structure of species in section Flavi, a total of 1,304 isolates were sampled across six species (A. flavus, A. parasiticus, A. nomius, A. caelatus, A. tamarii, and A. alliaceus) from single fields in major peanut-growing regions in Georgia (USA), Australia, Argentina, India, and Benin (Africa). We inferred maximum-likelihood phylogenies for six loci, both combined and separately, including two aflatoxin cluster regions (aflM/alfN and aflW/aflX) and four noncluster regions (amdS, trpC, mfs and MAT), to examine population structure and history...
November 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29150284/the-displacing-foods-of-modern-commerce-are-the-primary-and-proximate-cause-of-age-related-macular-degeneration-a-unifying-singular-hypothesis
#6
Chris A Knobbe, Marija Stojanoska
Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss and blindness in developed nations. AMD is anticipated to affect 196 million people worldwide, by 2020. However, the etiology of this disease remains unknown. Aging, genetic, and environmental influences have generally been implicated as major etiologic factors. We sought to examine the hypothesis that consumption of the 'displacing foods of modern commerce,' which equate to processed, nutrient-deficient and potentially toxic foods, may be the primary and proximate cause of AMD...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29135322/retinal-structure-in-pre-clinical-age-related-macular-degeneration
#7
S Nusinowitz, Y Wang, P Kim, S Habib, R Baron, Y Conley, M Gorin
PURPOSE: To determine, if there are identifiable retinal structural changes associated with genetic risk for age-related macular degeneration (AMD). MATERIALS AND METHODS: Seventy-three subjects (range 51.5 to 68.9 years) participated in this prospective study. Subjects were recruited based on the presence of a family history of AMD in one or both parents. All participants underwent a complete ophthalmic exam and imagery for staging of disease severity and genetic testing to assess genetic risk for AMD development...
November 14, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29125146/genetics-and-genetic-testing-for-age-related-macular-degeneration
#8
REVIEW
A Warwick, A Lotery
Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments...
November 10, 2017: Eye
https://www.readbyqxmd.com/read/29110945/the-progression-of-geographic-atrophy-secondary-to-age-related-macular-degeneration
#9
REVIEW
Monika Fleckenstein, Paul Mitchell, K Bailey Freund, SriniVas Sadda, Frank G Holz, Christopher Brittain, Erin C Henry, Daniela Ferrara
Geographic atrophy (GA) is an advanced form of age-related macular degeneration (AMD) that leads to progressive and irreversible loss of visual function. Geographic atrophy is defined by the presence of sharply demarcated atrophic lesions of the outer retina, resulting from loss of photoreceptors, retinal pigment epithelium (RPE), and underlying choriocapillaris. These lesions typically appear first in the perifoveal macula, initially sparing the foveal center, and over time often expand and coalesce to include the fovea...
October 27, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29101353/in-vivo-multimodal-imaging-of-drusenoid-lesions-in-rhesus-macaques
#10
Glenn Yiu, Eric Tieu, Christian Munevar, Brittany Wong, David Cunefare, Sina Farsiu, Laura Garzel, Jeffrey Roberts, Sara M Thomasy
Nonhuman primates are the only mammals to possess a true macula similar to humans, and spontaneously develop drusenoid lesions which are hallmarks of age-related macular degeneration (AMD). Prior studies demonstrated similarities between human and nonhuman primate drusen based on clinical appearance and histopathology. Here, we employed fundus photography, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and infrared reflectance (IR) to characterize drusenoid lesions in aged rhesus macaques...
November 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29096998/a-deep-phenotype-association-study-reveals-specific-phenotype-associations-with-genetic-variants-in-age-related-macular-degeneration-age-related-eye-disease-study-2-areds2-report-no-14
#11
Freekje van Asten, Michael Simmons, Ayush Singhal, Tiarnan D Keenan, Rinki Ratnapriya, Elvira Agrón, Traci E Clemons, Anand Swaroop, Zhiyong Lu, Emily Y Chew
PURPOSE: Age-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association study (GWAS). These genetic variants could modulate different biological pathways involved in AMD, contributing to phenotypic variability. To better understand the effects of these SNPs, we performed a deep phenotype association study (DeePAS) in the Age-Related Eye Disease Study 2 (AREDS2), followed by replication using AREDS participants, to identify genotype associations with AMD and non-AMD ocular and systemic phenotypes...
October 30, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29093709/age-related-macular-degeneration-a-connection-between-human-herpes-virus-6a-induced-cd46-downregulation-and-complement-activation
#12
Walter Fierz
Viruses are able to interfere with the immune system by docking to receptors on host cells that are important for proper functioning of the immune system. A well-known example is the human immunodeficiency virus that uses CD4 cell surface molecules to enter host lymphocytes and thereby deleteriously destroying the helper cell population of the immune system. A more complicated mechanism is seen in multiple sclerosis (MS) where human herpes virus-6A (HHV-6A) infects astrocytes by docking to the CD46 surface receptor...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29042759/early-and-intermediate-age-related-macular-degeneration-update-and-clinical-review
#13
REVIEW
Alfredo García-Layana, Francisco Cabrera-López, José García-Arumí, Lluís Arias-Barquet, José M Ruiz-Moreno
Age-related macular degeneration (AMD) is the leading cause of irreversible central vision loss in developed countries. With the aging of population, AMD will become globally an increasingly important and prevalent disease worldwide. It is a complex disease whose etiology is associated with both genetic and environmental risk factors. An extensive decline in the quality of life and progressive need of daily living assistance resulting from AMD among those most severely affected highlights the essential role of preventive strategies, particularly advising patients to quit smoking...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29032853/genetic-polymorphisms-of-cfh-and-arms2-do-not-predict-response-to-antioxidants-and-zinc-in-patients-with-age-related-macular-degeneration-independent-statistical-evaluations-of-data-from-the-age-related-eye-disease-study
#14
Melissa J Assel, Fan Li, Ying Wang, Andrew S Allen, Keith A Baggerly, Andrew J Vickers
PURPOSE: Considerable controversy has erupted in recent years regarding whether genotyping should be part of standard care for patients with age-related macular degeneration (AMD) who are being considered for treatment with antioxidants and zinc. We aimed to determine whether genotype predicts response to supplements in AMD. DESIGN: Three separate statistical teams reanalyzed data derived from the Age-Related Eye Disease Study (AREDS), receiving data prepared by the AREDS investigators and, separately, data from investigators reporting findings that support the use of genotyping...
October 9, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29025108/hdl-cholesterol-levels-and-risk-of-age-related-macular-degeneration-a-multiethnic-genetic-study-using-mendelian-randomization
#15
Qiao Fan, Joseph C Maranville, Lars Fritsche, Xueling Sim, Chui Ming Gemmy Cheung, Li Jia Chen, Mathias Gorski, Kenji Yamashiro, Jeeyun Ahn, Augustinus Laude, Rajkumar Dorajoo, Tock Han Lim, Yik-Ying Teo, Robert O Blaustein, Nagahisa Yoshimura, Kyu-Hyung Park, Chi Pui Pang, E Shyong Tai, Chiea Chuen Khor, Tien Yin Wong, Heiko Runz, Ching-Yu Cheng
Background: Dyslipidemia, particularly high-density lipoprotein cholesterol (HDL-C), has recently been implicated in the pathogenesis of age-related macular degeneration (AMD), the leading cause of vision loss. However, epidemiological studies have yielded conflicting results. Methods: We investigated the causal role of plasma lipid levels in AMD in multiethnic populations comprising 16 144 advanced AMD cases and 17 832 controls of European descent, together with 2219 cases and 5275 controls of Asian descent, using Mendelian randomization in three models...
September 12, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28990425/mendelian-forms-of-disease-and-age-at-onset-affect-survival-in-frontotemporal-dementia
#16
Maura Cosseddu, Alberto Benussi, Stefano Gazzina, Rosanna Turrone, Silvana Archetti, Elisa Bonomi, Giorgio Biasiotto, Isabella Zanella, Raffaele Ferrari, Maria S Cotelli, Antonella Alberici, Alessandro Padovani, Barbara Borroni
OBJECTIVE: Frontotemporal dementia (FTD) is a common cause of young onset dementia. Very few reports on disease duration are currently available and predictors of survival are still undefined. The aim of the present study was to assess the natural history of FTD and to define predictors of survival. METHODS: Four hundred amd eleven FTD patients, including 294 with behavioural variant FTD, 77 with agrammatic variant primary progressive aphasia (PPA) and 40 with semantic variant PPA, were consecutively enrolled and demographic and clinical variables carefully recorded...
October 8, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28977452/genetics-of-age-related-macular-degeneration-amd
#17
Margaret M DeAngelis, Leah A Owen, Margaux A Morrison, Denise J Morgan, Mingyao Li, Akbar Shakoor, Albert Vitale, Sudha Iyengar, Dwight Stambolian, Ivana K Kim, Lindsay A Farrer
No abstract text is available yet for this article.
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28954472/comparative-molecular-analysis-of-strains-of-the-aleutian-disease-virus-isolated-from-farmed-and-wild-mink
#18
Andrzej Jakubczak, Marek Kowalczyk, Krzysztof Kostro, Grazyna Jezewska-Witkowska
INTRODUCTION AND OBJECTIVE: Aleutian Disease is a significant biological factor causing substantial losses in mink farming. The virus inducing the disease also infects wild populations which may constitute an asymptomatic reservoir. To compare genetic variants of the AMD virus occurring in wild and farmed mink populations, an analysis was performed on a fragment of the VP2 protein sequence of the virus infecting both populations, taken from different living environments. MATERIAL AND METHODS: Genetic material was isolated from 11 farmed animals in which anti-AMDV antibodies had been detected and from 20 wild animals...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28943268/regulated-efflux-of-photoreceptor-outer-segment-derived-cholesterol-by-human-rpe-cells
#19
Federica Storti, Gabriele Raphael, Vera Griesser, Katrin Klee, Faye Drawnel, Carolin Willburger, Rebecca Scholz, Thomas Langmann, Arnold von Eckardstein, Jürgen Fingerle, Christian Grimm, Cyrille Maugeais
Genetic studies have linked age-related macular degeneration (AMD) to genes involved in high-density lipoprotein (HDL) metabolism, including ATP-binding cassette transporter A1 (ABCA1). The retinal pigment epithelium (RPE) handles large amounts of lipids, among others cholesterol, partially derived from internalized photoreceptor outer segments (OS) and lipids physiologically accumulate in the aging eye. To analyze the potential function of ABCA1 in the eye, we measured cholesterol efflux, the first step of HDL generation, in RPE cells...
September 21, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28939808/novel-pathogenic-mutations-in-c1qtnf5-support-a-dominant-negative-disease-mechanism-in-late-onset-retinal-degeneration
#20
Chloe M Stanton, Shyamanga Borooah, Camilla Drake, Joseph A Marsh, Susan Campbell, Alan Lennon, Dinesh C Soares, Neeru A Vallabh, Jayashree Sahni, Artur V Cideciyan, Baljean Dhillon, Veronique Vitart, Samuel G Jacobson, Alan F Wright, Caroline Hayward
Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic similarities to age-related macular degeneration (AMD), a common and genetically complex disorder, which can lead to misdiagnosis in the early stages. To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Protein 5 (C1QTNF5) has been shown to cause L-ORD in a subset of affected families...
September 22, 2017: Scientific Reports
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