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Search Results: 1 - 10 of 117 matches for " Rando Allikmets "
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Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2
Nancy L. Parmalee, Carl Schubert, Maria Figueroa, Alan C. Bird, Tunde Peto, Mark C. Gillies, Paul S. Bernstein, Krzysztof Kiryluk, Joseph D. Terwilliger, Rando Allikmets, for the MacTel Project
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0024268
Abstract: Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.
Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration
Gregory S Hageman, Karen Gehrs, Serguei Lejnine, Aruna T Bansal, Margaret M DeAngelis, Robyn H Guymer, Paul N Baird, Rando Allikmets, Cosmin Deciu, Paul Oeth, Lorah T Perlee
Human Genomics , 2011, DOI: 10.1186/1479-7364-5-5-420
Abstract: Many diseases of ageing characterised by complex inheritance patterns are progressive; the individual may be asymptomatic in the early stages. One of these diseases, age-related macular degeneration (AMD), is the most common cause of visual impairment and the leading cause of blindness in the elderly population in the developed world. The prevalence of AMD increases with advancing age in all populations studied. Thus, in developed nations such as the USA, UK, Canada and Australia, with increasingly aged populations, the condition affects a progressively larger segment of the population and has become a major public health issue. Early- or late-stage AMD is present in 15 per cent of individuals over the age of 60 years [1]. It is estimated that there are currently 9.1 million patients in the USA with AMD, of which 1.7 million suffer with the vision-threatening late-stage complications of choroidal neovascularisation (CNV) or geographic atrophy [1]. Moreover, it is predicted that the number of cases of early AMD will increase to 17.8 million by 2050 and, if untreated, cases of late-stage blinding AMD will increase to 3.8 million [1]. It has been determined that vision loss from AMD decreases quality of life by 60 per cent, similar to the experience of dealing with a stroke that requires intensive nursing care [2].The clinical presentation and natural course of AMD are highly variable. The disease may present as early as the fifth decade of life or as late as the ninth decade. The clinical symptoms of AMD range from no visual disturbances in early disease to profound loss of central vision in the advanced late stages of the disease. Some patients never progress beyond early AMD; however, in 10-15 per cent of Caucasian patients with early-stage disease, the condition progresses to an exudative neovascular (or 'wet' form) or geographic atrophic (or 'dry' form) AMD, which threatens vision. The phenotype is characterised by development of subretinal choroidal neovascular c
The ERCC6 Gene and Age-Related Macular Degeneration
Dominique C. Baas,Dominiek D. Despriet,Theo G. M. F. Gorgels,Julie Bergeron-Sawitzke,André G. Uitterlinden,Albert Hofman,Cornelia M. van Duijn,Joanna E. Merriam,R. Theodore Smith,Gaetano R. Barile,Jacoline B. ten Brink,Johannes R. Vingerling,Caroline C. W. Klaver,Rando Allikmets,Michael Dean,Arthur A. B. Bergen
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0013786
Abstract: Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the developed countries and is caused by both environmental and genetic factors. A recent study (Tuo et al., PNAS) reported an association between AMD and a single nucleotide polymorphism (SNP) (rs3793784) in the ERCC6 (NM_000124) gene. The risk allele also increased ERCC6 expression. ERCC6 is involved in DNA repair and mutations in ERCC6 cause Cockayne syndrome (CS). Amongst others, photosensitivity and pigmentary retinopathy are hallmarks of CS.
Der akute Herzinfarkt in Wien - eine Analyse aus dem Jahr 2002
Weber H,Rieder A,Allikmets K,Haidinger G
Journal für Kardiologie , 2006,
Abstract: Alle Patientinnen und Patienten, die im Jahr 2002 mit einem akuten Herzinfarkt (AMI: ICD-10 I-21) aus einem der Wiener Krankenh user des Krankenanstaltenverbundes entlassen wurden, wurden in einer Kohortenstudie nach Alter, Geschlecht, Wohnort, Aufnahmespital, Liegedauer und Entlassung bzw. Tod im Spital untersucht. 1676 Patienten (62 % M nner, 38 % Frauen) waren w hrend dieses Zeitraums ein- oder mehrmals in station rer Behandlung, soda diese Diagnose insgesamt 1844mal gestellt wurde. Die meisten Patienten kamen erwartungsgem aus Wien, vor allem aus dem bev lkerungsst rksten 10. Wiener Gemeindebezirk (13,3 % aller Wiener AMI-Patienten), 8,5 % aus den umliegenden Bundesl ndern Nieder sterreich und Burgenland. Die Spitalsletalit t war mit 14,3 % um 10,6 rel.% niedriger als der sterreichische Durchschnitt, auch bei geschlechtsspezifischer Betrachtung, wenngleich unver ndert bei Frauen, die durchschnittlich um 10 Jahre lter waren als M nner, die Spitalsletalit t rund doppelt so hoch war (M nner 10,6 %, Frauen 20,4 %). Jedes Wiener Krankenhaus wies ein spezifisches Patientenkollektiv hinsichtlich Alter, Frauenanteil und Wohnort der Patienten auf, wobei dies nicht unbedingt mit der Ausstattung des Krankenhauses (Anzahl der Herzkatheterlabors) und der Liegedauer der Patienten korrelierte. Ferner konnten Krankenh user mit mehr regionalen und solche mit mehr überregionalen Aufgaben in der Infarktversorgung identifiziert werden. Die vorliegende Analyse gibt Einblick in die Verteilung der Patienten mit AMI in Wien, woraus sich aufgrund der zu erwartenden Bev lkerungsentwicklung gesundheitspolitische Konsequenzen vor allem hinsichtlich der lokalen nderungen des Bedarfs der Patientenversorgung ergeben. Die Analyse wurde in der Zeit vor Einführung des Wiener Modells zur Akutversorgung der AMI durchgeführt, soda sie auch als Basis für eine Evaluierung dieses Modells herangezogen werden kann.
La participación de profesionales sanitarios portugueses en la detección de donantes de órganos
Rando,Belén;
Escritos de Psicología (Internet) , 2010,
Abstract: health care professionals who work at critical care units (ccu) constitute a key group in the process of obtaining organs for transplantation. for this reason, and with the purpose of understanding the set of variables associated to the process involved in identifying potential organ donors, a survey was conducted among professionals from ccu in three important hospitals in lisbon. a multivariate model has been elaborated using logistic regression analysis. according to the model, variables associated to the process of identifying a potential organ donor are: perception of the level of information about organ donation and transplantation; when information about this topic was received in the year prior to the present research; perception about own capability to assess a patient as a potential organ donor; perception about the amount of work when an organ donor is identified; perception about the attitude of next-of-kin toward organ removal; and perception about the reversibility of the brain death.
La participación de profesionales sanitarios portugueses en la detección de donantes de órganos (Involvement of portuguese health care professionals in identifying organ donors)
Belén Rando
Escritos de Psicología , 2010,
Abstract: Health care professionals who work at Critical Care Units (CCU) constitute a key group in the process of obtaining organs for transplantation. For this reason, and with the purpose of understanding the set of variables associated to the process involved in identifying potential organ donors, a survey was conducted among professionals from CCU in three important hospitals in Lisbon. A multivariate model has been elaborated using logistic regression analysis. According to the model, variables associated to the process of identifying a potential organ donor are: perception of the level of information about organ donation and transplantation; when information about this topic was received in the year prior to the present research; perception about own capability to assess a patient as a potential organ donor; perception about the amount of work when an organ donor is identified; perception about the attitude of next-of-kin toward organ removal; and perception about the reversibility of the brain death.
LA REPRESENTATION DU CORPS HYBRIDE DANS LE ROMAN DE PERCEFOREST
Andréa RANDO-MARTIN
Studii si Cercetari Filologice : Seria Limbi Romanice , 2012,
Abstract: Les arts rhétoriques antiques, qui servent de fondement à la tradition médiévale, affirment l’impossibilité de représenter les êtres hybrides, marqués par une contradiction essentielle et une profonde laideur. Pourtant l’examen des portraits consacrés par le Roman de Perceforest à trois figures d’hybrides permet de déterminer les conditions et les limites de cette représentation. Il s’agit ici d’observer la manière dont le roman médiéval négocie l’impasse de la rhétorique antique et donne, dans le texte, sens et existence au corps hybride.
Post-launch performance of the Fermi Large Area Telescope
R. Rando,for the Fermi LAT Collaboration
Physics , 2009,
Abstract: The Large Area Telescope (LAT) on-board the Fermi Gamma-ray Space Telescope started nominal operations on August 13, 2008, after about 60 days of instrument checkout and commissioning and is currently performing an all-sky gamma-ray survey from 30 MeV to above 300 GeV with unprecedented sensitivity and angular resolution. The LAT pre-launch response was tuned using Monte Carlo simulations and test beam data from a campaign necessarily limited in scope. This suggested a conservative approach in dealing with systematics that affect the reconstruction analysis of the first months of data taking. The first major update of the instrument performance based on flight data is now being completed. Not only are the LAT calibrations now based on flight data, but also the ground event reconstruction has been updated to accommodate on-orbit calibrations, and response was carefully verified using real data from celestial sources. In this contribution we describe the current best knowledge of the instrument, and our plans towards releasing public response functions to support data release in year 2.
Magnetic reversal modes in multisegmented nanowire arrays with long aspect ratio
E. A. Rando,S. Allende
Physics , 2015, DOI: 10.1063/1.4926377
Abstract: A detailed numerical analysis of the magnetization reversal processes in multisegmented nanowire arrays was developed. The nanowires have a long aspect ratio and are formed by magnetic and non-magnetic sections alternately arranged in such a way that the array resembles magnetic layers separated by non-magnetic layers. Attention has been focused on the influence of magnetostatic interaction in the magnetic pattern formation of these magnetic nanostructures. Results from a magnetic correlation function among layers show that three different reversal modes can be detected depending on the number and distance between the magnetic segments. As a consequence of the different reversal modes, a non-monotonic behavior of the annihilation field in function of the distance between the layers is evidenced. Thus, these results are important for the production of magnetic devices with multisegmented nanowire arrays.
Correction: High Incidence of Non-Random Template Strand Segregation and Asymmetric Fate Determination In Dividing Stem Cells and their Progeny
Michael Conboy,Ariela Karasov,Thomas Rando
PLOS Biology , 2012, DOI: 10.1371/journal.pbio.0050182
Abstract:
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