Women and Alport syndrome

X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous “carrier” females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors

Digitization of the Canadian Parliamentary debates

This paper describes the digitization and enrichment of the Canadian House of Commons English Debates from 1901 to present. We start by laying out the general framework in which this project took place and then present the structure of the database and provide guidelines to prospective users. The paper concludes with the introduction of www.lipad.ca, an online platform designed as a hub for archiving Canadian political data, with the parliamentary proceedings at the centre of its architecture

The Carnegie Supernova Project. I. Third Photometry Data Release of Low-redshift Type Ia Supernovae and Other White Dwarf Explosions

We present final natural-system optical (ugriBV) and near-infrared (YJH) photometry of 134 supernovae (SNe) with probable white dwarf progenitors that were observed in 2004-2009 as part of the first stage of the Carnegie Supernova Project (CSP-I). The sample consists of 123 Type Ia SNe, 5 Type Iax SNe, 2 super-Chandrasekhar SN candidates, 2 Type Ia SNe interacting with circumstellar matter, and 2 SN 2006bt-like events. The redshifts of the objects range from to 0.0835; the median redshift is 0.0241. For 120 (90%) of these SNe, near-infrared photometry was obtained. Average optical extinction coefficients and color terms are derived and demonstrated to be stable during the five CSP-I observing campaigns. Measurements of the CSP-I near-infrared bandpasses are also described, and near-infrared color terms are estimated through synthetic photometry of stellar atmosphere models. Optical and near-infrared magnitudes of local sequences of tertiary standard stars for each supernova are given, and a new calibration of Y-band magnitudes of the Persson et al. standards in the CSP-I natural system is presented.Fil: Krisciunas, Kevin. Texas A&M University; Estados UnidosFil: Contreras, Carlos. University Aarhus; Dinamarca. Las Campanas Observatory; ChileFil: Burns, Christopher R.. Las Campanas Observatory; ChileFil: Phillips, M. M.. Las Campanas Observatory; ChileFil: Stritzinger, Maximilian D.. Las Campanas Observatory; Chile. University Aarhus; DinamarcaFil: Morrell, Nidia Irene. Las Campanas Observatory; ChileFil: Hamuy, Mario. Universidad de Chile; ChileFil: Anais, Jorge. Las Campanas Observatory; ChileFil: Boldt, Luis. Las Campanas Observatory; ChileFil: Busta, Luis. Las Campanas Observatory; ChileFil: Campillay, Abdo. Las Campanas Observatory; ChileFil: Castellón, Sergio. Las Campanas Observatory; ChileFil: Folatelli, Gaston. Las Campanas Observatory; Chile. Universidad Nacional de La Plata. Facultad de Ciencias Astronómicas y Geofísicas; ArgentinaFil: Freedman, Wendy L.. University of Chicago; Estados UnidosFil: González, Consuelo. Las Campanas Observatory; ChileFil: Hsiao, Eric Y.. Florida State University; Estados Unidos. University Aarhus; Dinamarca. Las Campanas Observatory; ChileFil: Krzeminski, Wojtek. Las Campanas Observatory; ChileFil: Persson, Sven Eric. Carnegie Observatories;Fil: Roth, Miguel. Gmto Corporation; Chile. Las Campanas Observatory; ChileFil: Salgado, Francisco. Leiden Observatory Research Institute; . Las Campanas Observatory; ChileFil: Serón, Jacqueline. Las Campanas Observatory; Chile. Cerro Tololo Inter American Observatory; ChileFil: Suntzeff, Nicholas B.. Texas A&M University; Estados UnidosFil: Torres, Simón. Soar Telescope; Chile. Las Campanas Observatory; ChileFil: Filippenko, Alexei V.. University of California at Berkeley; Estados UnidosFil: Li, Weidong. University of California at Berkeley; Estados UnidosFil: Madore, Barry F.. Jet Propulsion Laboratory, California Institute Of Technology; . Las Campanas Observatory; ChileFil: DePoy, D.L.. Texas A&M University; Estados UnidosFil: Marshall, Jennifer L.. Texas A&M University; Estados UnidosFil: Rheault, Jean Philippe. Texas A&M University; Estados UnidosFil: Villanueva, Steven. Texas A&M University; Estados Unidos. Ohio State University; Estados Unido

Recommended Priorities for Research on Ecological Impacts of Ocean and Coastal Acidification in the U.S. Mid-Atlantic

The estuaries and continental shelf system of the United States Mid-Atlantic are subject to ocean acidification driven by atmospheric CO2, and coastal acidification caused by nearshore and land-sea interactions that include biological, chemical, and physical processes. These processes include freshwater and nutrient input from rivers and groundwater; tidally-driven outwelling of nutrients, inorganic carbon, alkalinity; high productivity and respiration; and hypoxia. Hence, these complex dynamic systems exhibit substantial daily, seasonal, and interannual variability that is not well captured by current acidification research on Mid-Atlantic organisms and ecosystems. We present recommendations for research priorities that target better understanding of the ecological impacts of acidification in the U. S. Mid-Atlantic region. Suggested priorities are: 1) Determining the impact of multiple stressors on our resource species as well as the magnitude of acidification; 2) Filling information gaps on major taxa and regionally important species in different life stages to improve understanding of their response to variable temporal scales and sources of acidification; 3) Improving experimental approaches to incorporate realistic environmental variability and gradients, include interactions with other environmental stressors, increase transferability to other systems or organisms, and evaluate community and ecosystem response; 4) Determining the capacity of important species to acclimate or adapt to changing ocean conditions; 5) Considering multi-disciplinary, ecosystem-level research that examines acidification impacts on biodiversity and biotic interactions; and 6) Connecting potential acidification-induced ecological impacts to ecosystem services and the economy. These recommendations, while developed for the Mid-Atlantic, can be applicable to other regions will help align research towards knowledge of potential larger-scale ecological and economic impacts

PreCam, a Precursor Observational Campaign for Calibration of the Dark Energy Survey

PreCam, a precursor observational campaign supporting the Dark Energy Survey (DES), is designed to produce a photometric and astrometric catalog of nearly a hundred thousand standard stars within the DES footprint, while the PreCam instrument also serves as a prototype testbed for the Dark Energy Camera (DECam)'s hardware and software. This catalog represents a potential 100-fold increase in Southern Hemisphere photometric standard stars, and therefore will be an important component in the calibration of the Dark Energy Survey. We provide details on the PreCam instrument's design, construction and testing, as well as results from a subset of the 51 nights of PreCam survey observations on the University of Michigan Department of Astronomy's Curtis-Schmidt telescope at Cerro Tololo Inter-American Observatory. We briefly describe the preliminary data processing pipeline that has been developed for PreCam data and the preliminary results of the instrument performance, as well as astrometry and photometry of a sample of stars previously included in other southern sky surveys.Comment: 21 pages, 15 figures, submitted to PAS

Renal Survival in Children with Glomerulonephritis with Crescents: A Pediatric Nephrology Research Consortium Cohort Study

There is no evidence-based definition for diagnosing crescentic glomerulonephritis. The prognostic implications of crescentic lesions on kidney biopsy have not been quantified. Our objective was to determine risk factors for end-stage kidney disease (ESKD) in patients with glomerulonephritis and crescents on kidney biopsy. A query of the Pediatric Nephrology Research Consortium’s Pediatric Glomerulonephritis with Crescents registry identified 305 patients from 15 centers. A retrospective cohort study was performed with ESKD as the primary outcome. Median age at biopsy was 11 years (range 1–21). The percentage of crescents was 3–100% (median 20%). Etiologies included IgA nephropathy (23%), lupus (21%), IgA vasculitis (19%) and ANCA-associated GN (13%), post-infectious GN (5%), and anti-glomerular basement membrane disease (3%). The prevalence of ESKD was 12% at one year and 16% at last follow-up (median = 3 years, range 1–11). Median time to ESKD was 100 days. Risk factors for ESKD included %crescents, presence of fibrous crescents, estimated GFR, and hypertension at biopsy. For each 1% increase in %crescents, there was a 3% decrease in log odds of 1-year renal survival (p = 0.003) and a 2% decrease in log odds of renal survival at last follow-up (p \u3c 0.001). These findings provide an evidence base for enrollment criteria for crescentic glomerulonephritis in future clinical trials