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https://www.readbyqxmd.com/read/29042759/early-and-intermediate-age-related-macular-degeneration-update-and-clinical-review
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28928087/complement-factor-h-in-amd-bridging-genetic-associations-and-pathobiology
#9
REVIEW
Christopher B Toomey, Lincoln V Johnson, Catherine Bowes Rickman
Age-Related Macular Degeneration (AMD) is a complex multifactorial disease characterized in its early stages by lipoprotein accumulations in Bruch's Membrane (BrM), seen on fundoscopic exam as drusen, and in its late forms by neovascularization ("wet") or geographic atrophy of the Retinal Pigmented Epithelial (RPE) cell layer ("dry"). Genetic studies have strongly supported a relationship between the alternative complement cascade, in particular the common H402 variant in Complement Factor H (CFH) and development of AMD...
September 18, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28926193/association-between-cfh-cfb-arms2-serpinf1-vegfr1-and-vegf-polymorphisms-and-anatomical-and-functional-response-to-ranibizumab-treatment-in-neovascular-age-related-macular-degeneration
#10
Estefania Cobos, Sergio Recalde, Jaouad Anter, Maria Hernandez-Sanchez, Carla Barreales, Leticia Olavarrieta, Alicia Valverde, Marta Suarez-Figueroa, Fernando Cruz, Maximino Abraldes, Julian Pérez-Pérez, Patricia Fernández-Robredo, Luis Arias, Alfredo García-Layana
PURPOSE: We sought to determine if specific genetic single nucleotide polymorphisms (SNPs) influence vascular endothelial growth factor inhibition response to ranibizumab in neovascular age-related macular degeneration (AMD). METHODS: A total of 403 Caucasian patients diagnosed with exudative AMD were included. After a three-injection loading phase, a pro re nata regimen was followed. Nine SNPs from six different genes (CFH, CFB, ARMS2, SERPINF1, VEGFR1, VEGF) were genotyped...
September 19, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28912512/assessing-individual-risk-for-amd-with-genetic-counseling-family-history-and-genetic-testing
#11
R Cascella, C Strafella, G Longo, L Manzo, M Ragazzo, C De Felici, S Gambardella, L T Marsella, G Novelli, P Borgiani, F Sangiuolo, A Cusumano, F Ricci, E Giardina
PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device...
September 15, 2017: Eye
https://www.readbyqxmd.com/read/28905539/new-treatment-modalities-for-geographic-atrophy
#12
Rathika Kandasamy, Sanjeewa Wickremasinghe, Robyn Guymer
Age-related macular degeneration (AMD) is a significant cause of global visual morbidity and is projected to affect 288 million people by the year 2040. The advent of treatment with anti‒vascular endothelial growth factor (anti-VEGF) drugs has revolutionized the treatment of neovascular AMD (nAMD) but there have been no similar breakthroughs for the treatment of geographic atrophy (GA) to retard its progression. The advancements in imaging and new understanding of disease mechanisms, based on molecular and genetic models, have paved the way for the development of novel experimental treatment options for GA that aim to cater to a thus far largely unmet need...
September 14, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28894651/metacrast-reference-guided-extraction-of-crispr-spacers-from-unassembled-metagenomes
#13
Abraham G Moller, Chun Liang
Clustered regularly interspaced short palindromic repeat (CRISPR) systems are the adaptive immune systems of bacteria and archaea against viral infection. While CRISPRs have been exploited as a tool for genetic engineering, their spacer sequences can also provide valuable insights into microbial ecology by linking environmental viruses to their microbial hosts. Despite this importance, metagenomic CRISPR detection remains a major challenge. Here we present a reference-guided CRISPR spacer detection tool (Metagenomic CRISPR Reference-Aided Search Tool-MetaCRAST) that constrains searches based on user-specified direct repeats (DRs)...
2017: PeerJ
https://www.readbyqxmd.com/read/28860733/recent-developments-in-age-related-macular-degeneration-a-review
#14
REVIEW
Waseem M Al-Zamil, Sanaa A Yassin
BACKGROUND: Visual impairment in elderly people is a considerable health problem that significantly affects quality of life of millions worldwide. The magnitude of this issue is becoming more evident with an aging population and an increasing number of older individuals. OBJECTIVE: The objective of this article was to review the clinical and pathological aspects of age-related macular degeneration (AMD), diagnostic tools, and therapeutic modalities presently available or underway for both atrophic and wet forms of the disease...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28859202/phenotype-characteristics-of-patients-with-age-related-macular-degeneration-carrying-a-rare-variant-in-the-complement-factor-h-gene
#15
Eveline Kersten, Maartje J Geerlings, Anneke I den Hollander, Eiko K de Jong, Sascha Fauser, Tunde Peto, Carel B Hoyng
Importance: Rare variants in the complement factor H (CFH) gene and their association with age-related macular degeneration (AMD) have been described. However, there is limited literature on the phenotypes accompanying these rare variants. Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing. Objective: To describe the phenotypical characteristics of patients with AMD carrying a rare variant in the CFH gene. Design, Setting, and Participants: In this cross-sectional study, we searched the genetic database of the department of ophthalmology at the Radboudumc (tertiary ophthalmologic referral center) and the European Genetic Database for patients with AMD with a rare genetic variant in the CFH gene...
October 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28854576/genetics-of-age-related-macular-degeneration-amd
#16
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
Age-related macular degeneration (AMD) is a progressive blinding disease and represents the leading cause of visual impairment in the aging population. AMD affects central vision which impairs one's ability to drive, read and recognize faces. There is no cure for this disease and current treatment modalities for the exudative form of the disease require repeated intravitreal injections which may be painful, are incompletely efficacious, and represent a significant treatment burden for both the patient and physician...
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28846052/association-of-htra1-rs11200638-with-age-related-macular-degeneration-amd-in-brazilian-patients
#17
Tamires Prates Lana, Sueli Matilde da Silva Costa, Galina Ananina, Fábio Endo Hirata, Priscila Hae Hyun Rim, Flávio MacCord Medina, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism...
August 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28846017/pharmacologic-treatment-of-wet-type-age-related-macular-degeneration-current-and-evolving-therapies
#18
Hoda Shams Najafabadi, Narsis Daftarian, Hamid Ahmadieh, Zahra-Soheila Soheili
Age-related macular degeneration as the major cause of blindness in the elderly population has remained at the epicenter of clinical research in ophthalmology. This retinal disorder is characterized by the photoreceptor and retinal pigment epithelial cells loss, occurring within the macula. The disease represents a spectrum of clinical manifestations. It is a multifactorial disease resulting from a combination of genetic predispositions and environmental risk factors. AMD is classified into two different types, dry and wet...
August 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28835638/shared-genetic-variants-for-polypoidal-choroidal-vasculopathy-and-typical-neovascular-age-related-macular-degeneration-in-east-asians
#19
Qiao Fan, Chui Ming Gemmy Cheung, Li Jia Chen, Kenji Yamashiro, Jeeyun Ahn, Augustinus Laude, Ranjana Mathur, Chan Choi Mun, Ian Y Yeo, Tock Han Lim, Yik-Ying Teo, Chiea Chuen Khor, Kyu-Hyung Park, Nagahisa Yoshimura, Chi Pui Pang, Tien Yin Wong, Ching-Yu Cheng
Polypoidal choroidal vasculopathy (PCV), a subtype of age-related macular degeneration (AMD) more frequently seen in East Asians, has both common and distinct clinical manifestations with typical neovascular AMD (tAMD). We aim to examine the extent to which common genetic variants are shared between these two subtypes. We performed the meta-analysis of association in a total of 1062 PCV patients, 1157 tAMD patients and 5275 controls of East Asian descent from the Genetics of AMD in Asians Consortium at the 34 known AMD loci...
August 24, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28827330/cytochrome-p450-monooxygenase-lipid-metabolites-are-significant-second-messengers-in-the-resolution-of-choroidal-neovascularization
#20
Eiichi Hasegawa, Saori Inafuku, Lama Mulki, Yoko Okunuki, Ryoji Yanai, Kaylee E Smith, Clifford B Kim, Garrett Klokman, Diane R Bielenberg, Narender Puli, John R Falck, Deeba Husain, Joan W Miller, Matthew L Edin, Darryl C Zeldin, Kin Sing Stephen Lee, Bruce D Hammock, Wolf-Hagen Schunck, Kip M Connor
Age-related macular degeneration (AMD) is the most common cause of blindness for individuals age 50 and above in the developed world. Abnormal growth of choroidal blood vessels, or choroidal neovascularization (CNV), is a hallmark of the neovascular (wet) form of advanced AMD and leads to significant vision loss. A growing body of evidence supports a strong link between neovascular disease and inflammation. Metabolites of long-chain polyunsaturated fatty acids derived from the cytochrome P450 (CYP) monooxygenase pathway serve as vital second messengers that regulate a number of hormones and growth factors involved in inflammation and vascular function...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
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