304 research outputs found

    Beach erosion and accretion at Virginia Beach

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    This report is published to provide coastal engineers with a description of beach erosion and accretion at Virginia Beach, Virginia, including the effect of continuing beach replenishment, and the apparent unimportance of land use in determining erosion. This report also provides bench-mark data on coastal processes at the shore north of the CERC Field Research Facility at Duck, North Carolina. The work was carried out under the beach evaluation program of the U.S. Army Coastal Engineering Research Center (CERC)

    An Alumni survey of the School of Social Work, Portland State University

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    The alumni survey conducted at Portland State University School of Social Work by second year students had two purposes. One purpose was to fulfill the research practicum requirements of a Masters of Social Work degree by providing experience in the area of applied survey research. The other was to provide a data base for future alumni research at the school

    Impact of anthropogenic disturbance on the chemistry of a small urban pond

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    Mirror Lake, one of the scenic locations on The Ohio State University\u27s campus, experiences an intense bioturbation event as part of an annual tradition revolving around the rivalry football game against the University of Michigan. This tradition involves thousands of students jumping into the lake over one night in the week leading up to the football game. Water samples were collected from several locations in the lake before, during, and after the Mirror Lake Jump to determine the impact of this event on lake water chemistry. There were significant and systematic increases in the concentrations of Na+, K+, Cl−, total nitrogen, ammonia, and dissolved organic carbon (DOC) associated with the jump, especially in the eastern side of the lake where most of the students entered. Over the 3-h period from 10 p.m. to 1 a.m. on the eastern side of the lake, Na+, K+, and Cl− concentrations increased by about 2–4 ppm, 1.5–3 ppm, and 4–6 ppm, respectively. The total nitrogen concentration increased about five to six fold, from 450–500 ppb to 2300–2800 ppb over the height of the event on the eastern side of the lake. Similar increases were observed for DOC, increasing from 3.6 to 18 ppm. This DOC increase was coincident with a 5‰ shift in δ13C, from a mean of around −28‰ in the early hours of the evening to a maximum of −23‰, implying a large influx of isotopically heavy carbon into the lake. Ammonia concentrations varied substantially from year to year, but always showed a systematic increase in concentration during the event. Smaller changes in major ion and nutrient concentrations were observed in the middle and western side of the lake, where fewer students entered the lake. The changes in concentration and the timing and spatial distribution of these changes are primarily attributed to anthropogenic input from jumpers in the form of bodily fluids (e.g., evaporated sweat, sebum and urine). Over a single night, these anthropogenic event inputs represent roughly 10% of the annual nitrogen budget of the lake, emphasizing the direct impact humans can have on urban water bodies on short time scales

    Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

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    Supplemental Data Supplemental Data include five figures and three tables and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2017.05.003. Supplemental Data Document S1. Figures S1–S5 and Tables S1–S3 Download Document S2. Article plus Supplemental Data Download Web Resources 1000 Genomes, http://www.internationalgenome.org/ ANNOVAR, http://annovar.openbioinformatics.org/en/latest/ BWA-MEM, http://bio-bwa.sourceforge.net/index.shtml Database of Genomic Variants, http://dgv.tcag.ca/dgv/app/home dbSNP, https://www.ncbi.nlm.nih.gov/projects/SNP/ Exome Aggregation Consortium (ExAC) Browser, http://exac.broadinstitute.org/ ExonPrimer, https://ihg.helmholtz-muenchen.de/ihg/ExonPrimer.html GenBank, https://www.ncbi.nlm.nih.gov/genbank/ Genome Analysis Toolkit (GATK), https://software.broadinstitute.org/gatk/ Integrative Genomics Viewer (IGV), http://software.broadinstitute.org/software/igv/ OMIM, https://www.omim.org/ SNPmasker, http://bioinfo.ebc.ee/snpmasker/ UCSC Genome Browser, https://genome.ucsc.edu/index.html Variant Effect Predictor, http://useast.ensembl.org/info/docs/tools/vep/index.html The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. This disorder is characterized by severe lesions of thick scaly skin on the face and genitals and thickened, red, and scaly skin on the hands and feet. Although exome sequencing revealed several of the KDSR mutations, we employed genome sequencing to discover a pathogenic 346 kb inversion in multiple probands, and cDNA sequencing and a splicing assay established that two mutations, including a recurrent silent third base change, cause exon skipping. Immunohistochemistry and yeast complementation studies demonstrated that the mutations cause defects in KDSR function. Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation
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