436 research outputs found
Developmental or degenerative – NR2E3 gene mutations in two patients with enhanced S cone syndrome
PurposeEnhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causative gene, nuclear receptor subfamily 2, group E, member 3 (NR2E3), controls the developmental sequence for rods and cones. The purpose of this study was to compare the nature and implications of mutations in two subjects with Enhanced S Cone Syndrome who have significantly different degrees of degenerative damage.MethodsA direct sequencing approach was used to identify the mutations. Genomic DNA was amplified from all the exons of NR2E3 and used as a template for sequencing. Of the two families studied, Case 1 is of Persian ethnicity while Case 2 is Brazilian. A total of six individuals within the two families were studied.ResultsCase 1 (original propositus of the syndrome) has the characteristic developmental rod/cone abnormality with large amplitude electroretinogram responses and no retinal degeneration. She was homozygous for a novel mutation, c.[del196–201del6] (p.G66-C67del), which lies entirely within the P-box for this gene. By comparison, Case 2 had Goldmann-Favre Syndrome with retinal degeneration and low electroretinogram signals. She was a compound heterozygote for c.[119–2A>C]+[del194–202del9] (p.N65-C67del), mutations that have been reported previously. Her second mutation overlaps that of Case 1 within the P-box.ConclusionsThe novel in-frame homozygous deletion of Case 1, within the P-box motif of the DNA binding domain, caused a developmental abnormality without retinal degeneration. Case 2, with more traditional Goldmann-Favre Syndrome with retinal degeneration, was a compound heterozygote where one allele had a similar P-box deletion but the other was a splicing defect. Case 1 is the first reported homozygous deletion within the P-box. This is the first report of NR2E3 mutations in a Persian and a Brazilian family
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New adhesive systems based on functionalized block copolymers
The goal of this work was to evaluate chemically-functionalized block copolymers as adhesion promoters for metal/thermoset resin interfaces. Novel block copolymers were synthesized which contain pendant functional groups reactive toward copper and epoxy resins. In particular, imidazole and triazole functionalities that chelate with copper were incorporated onto one block, while secondary amines were incorporated onto the second block. These copolymers were found to self-assemble from solution onto copper surfaces to form monolayers. The structure of the adsorbed monolayers were studied in detail by neutron reflection and time-of-flight secondary ion mass spectrometry. The monolayer structure was found to vary markedly with the solution conditions and adsorption protocol. Appropriate conditions were found for which the two blocks form separate layers on the surface with the amine functionalized block exposed at the air surface. Adhesion testing of block copolymer-coated copper with epoxy resins was performed in both lap shear and peel modes. Modest enhancements in bond strengths were observed with the block copolymer applied to the native oxide. However, it was discovered that the native oxide is the weak link, and that by simply removing the native oxide, and then applying an epoxy resin before the native oxide can reform, excellent bond strength in the as-prepared state as well as excellent retention of bond strength after exposure to solder in ambient conditions are obtained. It is recommended that long term aging studies be performed with and without the block copolymer. In addition, the functionalized block copolymer method should be evaluated for another system that has inherently poor bonding, such as the nickel/silicone interface, and for systems involving metals and alloys which form oxides very rapidly, such as aluminum and stainless steel, where bonding strategies involve stabilizing the native oxide
Shape change along geodesics with application to cleft lip surgery
Continuous shape change is represented as curves in the shape space. A method for checking the closeness of these curves to a geodesic is presented. Three large databases of short human motions are considered and shown to be well approximated by geodesics. The motions are thus approximated by two shapes on the geodesic and the rate of progress along the path. An analysis of facial motion data taken from a study of subjects with cleft lip or cleft palate is presented that allows the motion to be considered independently from the static shape. Inferential methods for assessing the change in motion are presented. The construction of predicted animated motions is discussed
The Freshman, vol. 1, no. 8
The Freshman was a weekly, student newsletter issued on Mondays throughout the academic year. The newsletter included calendar notices, coverage of campus social events, lectures, and athletic teams. The intent of the publication was to create unity, a sense of community, and class spirit among first year students
The Freshman, vol. 1, no. 10
The Freshman was a weekly, student newsletter issued on Mondays throughout the academic year. The newsletter included calendar notices, coverage of campus social events, lectures, and athletic teams. The intent of the publication was to create unity, a sense of community, and class spirit among first year students. This issue includes an editorial exploring how to maintain self-identity in the face of academic stereotypes
The Freshman, vol. 1, no. 9
The Freshman was a weekly, student newsletter issued on Mondays throughout the academic year. The newsletter included calendar notices, coverage of campus social events, lectures, and athletic teams. The intent of the publication was to create unity, a sense of community, and class spirit among first year students. This issue includes acknowledgement of Bill Floring setting UMaine\u27s record for running the 100-yard dash in 10 seconds
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CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation
We evaluated the influence of an antioxidant and zinc nutritional supplement [the Age-Related Eye Disease Study (AREDS) formulation] on delaying or preventing progression to neovascular AMD (NV) in persons with age-related macular degeneration (AMD). AREDS subjects (n = 802) with category 3 or 4 AMD at baseline who had been treated with placebo or the AREDS formulation were evaluated for differences in the risk of progression to NV as a function of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotype groups. We used published genetic grouping: a two-SNP haplotype risk-calling algorithm to assess CFH, and either the single SNP rs10490924 or 372_815del443ins54 to mark ARMS2 risk. Progression risk was determined using the Cox proportional hazard model. Genetics–treatment interaction on NV risk was assessed using a multiiterative bootstrap validation analysis. We identified strong interaction of genetics with AREDS formulation treatment on the development of NV. Individuals with high CFH and no ARMS2 risk alleles and taking the AREDS formulation had increased progression to NV compared with placebo. Those with low CFH risk and high ARMS2 risk had decreased progression risk. Analysis of CFH and ARMS2 genotype groups from a validation dataset reinforces this conclusion. Bootstrapping analysis confirms the presence of a genetics–treatment interaction and suggests that individual treatment response to the AREDS formulation is largely determined by genetics. The AREDS formulation modifies the risk of progression to NV based on individual genetics. Its use should be based on patient-specific genotype
Variable crustal structure along the Juan de Fuca Ridge : influence of on-axis hot spots and absolute plate motions
Author Posting. © American Geophysical Union, 2008. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Geochemistry Geophysics Geosystems 9 (2008): Q08001, doi:10.1029/2007GC001922.Multichannel seismic and bathymetric data from the Juan de Fuca Ridge (JDFR) provide constraints on axial and ridge flank structure for the past 4–8 Ma within three spreading corridors crossing Cleft, Northern Symmetric, and Endeavour segments. Along-axis data reveal south-to-north gradients in seafloor relief and presence and depth of the crustal magma lens, which indicate a warmer axial regime to the south, both on a regional scale and within individual segments. For young crust, cross-axis lines reveal differences between segments in Moho two-way traveltimes of 200–300 ms which indicate 0.5–1 km thicker crust at Endeavour and Cleft compared to Northern Symmetric. Moho traveltime anomalies extend beyond the 5–15 km wide axial high and coincide with distinct plateaus, 32 and 40 km wide and 200–400 m high, found at both segments. On older crust, Moho traveltimes are similar for all three segments (∼2100 ± 100 ms), indicating little difference in average crustal production prior to ∼0.6 and 0.7 Ma. The presence of broad axis-centered bathymetric plateau with thickened crust at Cleft and Endeavour segments is attributed to recent initiation of ridge axis-centered melt anomalies associated with the Cobb hot spot and the Heckle melt anomaly. Increased melt supply at Cleft segment upon initiation of Axial Volcano and southward propagation of Endeavour segment during the Brunhes point to rapid southward directed along-axis channeling of melt anomalies linked to these hot spots. Preferential southward flow of the Cobb and Heckle melt anomalies and the regional-scale south-to-north gradients in ridge structure along the JDFR may reflect influence of the northwesterly absolute motion of the ridge axis on subaxial melt distribution.This work was supported by U.S.
National Science Foundation grants OCE00-02488 to S.M.C.,
OCE06-48303 to S.M.C. and M.R.N., OCE-0648923 to J.P.C.,
and OCE00-02600 to G.M.K. and A.J.H
The Freshman, vol. 1, no. 14
The Freshman was a weekly, student newsletter issued on Mondays throughout the academic year. The newsletter included calendar notices, coverage of campus social events, lectures, and athletic teams. The intent of the publication was to create unity, a sense of community, and class spirit among first year students. Campus coverage in this issue includes changes in rules governing the Senior Skulls in an effort to create a better spirit among the entire student body, by prohibiting the wearing of knickers, prep school insignia, and sports shoes
The Freshman, vol. 1, no. 10 [issue misnumbered]
The Freshman was a weekly, student newsletter issued on Mondays throughout the academic year. The newsletter included calendar notices, coverage of campus social events, lectures, and athletic teams. The intent of the publication was to create unity, a sense of community, and class spirit among first year students. This issue includes an editorial exploring how to maintain self-identity in the face of academic stereotypes
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