Identification of a Novel Microdeletion Causative of Nance-Horan Syndrome

BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blade-shaped incisors, supernumerary maxillary incisors, diastema, delays, intellectual disability, and dysmorphic facies. With the evolution of array-CGH technology, a total of five kindreds with NHS have been reported in the medical literature with microdeletions encompassing the NHS gene rather than sequencing variants. METHODS: The patient is a 19-year-old male born to non-consanguineous parents with a past medical history of bilateral congenital cataracts, nystagmus, poor vision, glaucoma, screwdriver blade-shaped incisors, global developmental delay, intellectual disability, bilateral sensorineural hearing loss, axial hypotonia, and bilateral foot contractures. RESULTS: A chromosomal microarray (CMA) was performed and revealed a 1.83-Mb interstitial microdeletion at Xp22.2p22.13 (16,604,890-18,435,836) (GRCh37/hg19) that included NHS, CTPS2, S100G, TXLNG, RBBP7, REPS2, SCML1, RAI2, and SCML2. CONCLUSION: Here, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype

Analyzing Satellite Ocean Color Match-Up Protocols Using the Satellite Validation Navy Tool (SAVANT) At MOBY and Two AERONET-OC Sites

The satellite validation navy tool (SAVANT) was developed by the Naval Research Laboratory to help facilitate the assessment of the stability and accuracy of ocean color satellites, using numerous ground truth (in situ) platforms around the globe and support methods for match-up protocols. The effects of varying spatial constraints with permissive and strict protocols on match-up uncertainty are evaluated, in an attempt to establish an optimal satellite ocean color calibration and validation (cal/val) match-up protocol. This allows users to evaluate the accuracy of ocean color sensors compared to specific ground truth sites that provide continuous data. Various match-up constraints may be adjusted, allowing for varied evaluations of their effects on match-up data. The results include the following: (a) the difference between aerosol robotic network ocean color (AERONET-OC) and marine optical Buoy (MOBY) evaluations; (b) the differences across the visible spectrum for various water types; (c) spatial differences and the size of satellite area chosen for comparison; and (d) temporal differences in optically complex water. The match-up uncertainty analysis was performed using Suomi National Polar-orbiting Partnership (SNPP) Visible Infrared Imaging Radiometer Suite (VIIRS) SNPP data at the AERONET-OC sites and the MOBY site. It was found that the more permissive constraint sets allow for a higher number of match-ups and a more comprehensive representation of the conditions, while the restrictive constraints provide better statistical match-ups between in situ and satellite sensors

VARIABILITY IN THE BACKSCATTERING TO SCATTERING AND F/Q RATIOS OBSERVED IN NATURAL WATERS

, examine the spectral variability of the ratio and examine the variability in different water types related to the changes in the Volume Scattering Function (VSF). In addition, we estimate the T*f/Q (Mobley 9 ) term from above-water measurements of remote sensing reflectance (Rrs) coupled with direct measurements of absorption (a) and backscattering (b b ) coefficients. We will examine the spectral dependence of the T*f/Q term and its relationship to the b b /b ratio, which we use as a substitute for the changing VSF. Finally, we will show how the estimated T*f/Q values vary from the commonly used value of 0.051 used for satellite processing

A Super-Oxidized Radical Cationic Icosahedral Boron Cluster

While the icosahedral closo-[B₁₂H₁₂]²⁻ cluster does not display reversible electrochemical behavior, perfunctionalization of this species via substitution of all 12 B–H vertices with alkoxy or benzyloxy (OR) substituents engenders reversible redox chemistry, providing access to clusters in the dianionic, monoanionic, and neutral forms. Here, we evaluated the electrochemical behavior of the electron-rich B₁₂(O-3-methylbutyl)₁₂ (1) cluster and discovered that a new reversible redox event that gives rise to a fourth electronic state is accessible through one-electron oxidation of the neutral species. Chemical oxidation of 1 with [N(2,4-Br₂C₆H₃)₃]·⁺ afforded the isolable [1]·⁺ cluster, which is the first example of an open-shell cationic B₁₂ cluster in which the unpaired electron is proposed to be delocalized throughout the boron cluster core. The oxidation of 1 is also chemically reversible, where treatment of [1]·⁺ with ferrocene resulted in its reduction back to 1. The identity of [1]·⁺ is supported by EPR, UV–vis, multinuclear NMR (¹H, ¹¹B), and X-ray photoelectron spectroscopic characterization

A Super-Oxidized Radical Cationic Icosahedral Boron Cluster

While the icosahedral closo-[B₁₂H₁₂]²⁻ cluster does not display reversible electrochemical behavior, perfunctionalization of this species via substitution of all 12 B–H vertices with alkoxy or benzyloxy (OR) substituents engenders reversible redox chemistry, providing access to clusters in the dianionic, monoanionic, and neutral forms. Here, we evaluated the electrochemical behavior of the electron-rich B₁₂(O-3-methylbutyl)₁₂ (1) cluster and discovered that a new reversible redox event that gives rise to a fourth electronic state is accessible through one-electron oxidation of the neutral species. Chemical oxidation of 1 with [N(2,4-Br₂C₆H₃)₃]·⁺ afforded the isolable [1]·⁺ cluster, which is the first example of an open-shell cationic B₁₂ cluster in which the unpaired electron is proposed to be delocalized throughout the boron cluster core. The oxidation of 1 is also chemically reversible, where treatment of [1]·⁺ with ferrocene resulted in its reduction back to 1. The identity of [1]·⁺ is supported by EPR, UV–vis, multinuclear NMR (¹H, ¹¹B), and X-ray photoelectron spectroscopic characterization

Enhanced Satellite Remote Sensing of Coastal Waters Using Spatially Improved Bio-Optical Products From SNPP-VIIRS

The spatial dynamics of coastal and inland regions are highly variable and monitoring these waters with ocean color remote sensors requires increased spatial resolution capabilities. A procedure for the spatial enhancement of ocean color products, including chlorophyll and inherent optical properties (IOPs), is developed using a sharpened visible water-leaving radiance spectrum for the visible infrared imaging radiometer suite (VIIRS). A new approach for spectral sharpening is developed by utilizing the spatial covariance of the spectral bands for sharpening the M bands (412, 443, 486, 551, 671. nm; 750-m resolution) with the I-1 band (645. nm; 375-m resolution). The spectral shape remains consistent by the use of a dynamic, wavelength-specific spatial resolution ratio that is weighted as a function of the relationship between proximate I- and M-band variance at each pixel. A comparison of bio-optical satellite products at 375-m and 750-m spatial resolution with in situ measurements of water leaving radiance and bio-optical properties show an improved capability of the VIIRS 375-m products in turbid and optically complex waters, such as the Chesapeake Bay and Mississippi River Plume. We demonstrate that the increased spatial resolution improves the ability for VIIRS to characterize bio-optical properties in coastal waters

Improved Monitoring of Bio-Optical Processes In Coastal and Inland Waters Using High Spatial Resolution Channels On SNPP-VIIRS Sensor

The dynamic and small-scale spatial variability of bio-optical processes that occurs in coastal regions and inland waters requires high resolution satellite ocean color feature detection. The Visual Infrared Imaging Radiometer Suite (VIIRS) currently utilizes five ocean color M-bands (410,443,486,551,671 nm) and two atmospheric correction M-bands in the cnear infrared (NIR; 745,862 nm) to produce ocean color products at a resolution of 750-m. VIIRS also has several high resolution (375-m) Imaging (I)-bands, including two bands centered at 640 nm and 865 nm. In this study, a spatially improved ocean color product is demonstrated by combining the 750-meter (M- channels) with the 375-m (I1-channel) to produce an image at a pseudo-resolution of 375-m. The new approach applies a dynamic wavelength-specific spatial ratio that is weighted as a function of the relationship between proximate I- and M-band variance at each pixel. This technique reduces sharpening artifacts by incorporating the native variability of the M-bands. In addition, this work examines the viability of replacing the M7-band (862 nm) with the I2-band (865 nm) to determine the atmospheric correction and aerosol optical depth at a higher resolution. These true (I-band) and pseudo (M-band) high resolution radiance values can subsequently be utilized as input parameters into various algorithms to yield high resolution optical products. The results show new capability for the VIIRS sensor for monitoring bio-optical processes in coastal waters. © 2013 SPIE

Estimating Sea Surface Salinity In Coastal Waters of the Gulf of Mexico Using Visible Channels On SNPP-VIIRS

Sea surface salinity is determined using the visible channels from the Visual Infrared Imaging Radiometer Suite (VIIRS) to derive regional algorithms for the Gulf of Mexico by normalizing to seasonal river discharge. The dilution of river discharge with open ocean waters and the surface salinity is estimated by tracking the surface spectral signature. The water leaving radiances derived from atmospherically-corrected and calibrated 750-m resolution visible M-bands (410, 443, 486, 551, 671 nm) are applied to bio-optical algorithms and subsequent multivariate statistical methods to derive regional empirical relationships between satellite radiances and surface salinity measurements. Although radiance to salinity is linked to CDOM dilution, we explored alternative statistical relationships to account for starting conditions. In situ measurements are obtained from several moorings spread across the Mississippi Sound and Mobile Bay, with a salinity range of 0.1-33. Data were collected over all seasons in the year 2013 in order to assess inter-Annual variability. The seasonal spectral signatures at the river mouth were used to track the fresh water end members and used to develop a seasonal slope and bias between salinity and radiance. Results show an increased spatial resolution for remote detection of coastal sea surface salinity from space, compared to the Aquarius Microwave salinity. Characterizing the coastal surface salinity has a significant impact on the physical circulation which affects the coastal ecosystems. Results identify locations and dissipation of the river plumes and can provide direct data for assimilation into physical circulation models. © 2014 SPIE

Monitoring Bio-Optical Processes Using NPP-VIIRS and MODIS-Aqua Ocean Color Products

Same day ocean color products from the S-NPP and MODIS provide for a new capability to monitor changes in the biooptical processes occurring in coastal waters. The combined use of multiple looks per day from several sensors can be used to follow the water mass changes of bio-optical properties. Observing the dynamic changes in coastal waters in response to tides, re-suspension and river plume dispersion, requires sequential ocean products per day to resolve biooptical processes. We examine how these changes in bio-optical properties can be monitored using the NPP and MODIS ocean color products. Additionally, when linked to ocean circulation, we examine the changes resulting from current advection compared to bio-optical processes. The inter-comparison of NPP and MODIS ocean products are in agreement so that diurnal changes surface bio-optical processes can be characterized. © 2013 SPIE