171 research outputs found

    A Geospatial Analysis of CDC-funded HIV Prevention Programs for African Americans in the United States

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    Given the increase in HIV/AIDS infection rates among racial and ethnic minorities, particularly African Americans, this study was undertaken as part of a larger research effort to examine the distribution of HIV prevention services focusing on African American populations within the United States. Data were gathered via a national survey of community-based organizations (CBOs) funded by the Centers for Disease Control and Prevention (CDC). A geocoded national database was constructed to identify, locate, and map these HIV prevention programs. A total of 1,020 CBOs responded to the survey, yielding a response rate of 70.3%. These CBOs administered a total of 3,028 HIV prevention programs. Data describing intervention types and persons served, combined with the address and service area of responding CBOs, were integrated with census data (2000) and analyzed by using a geographic information system (GIS). The results of our national level analysis show that HIV prevention services for African Americans have fair coverage where African Americans comprise a substantial proportion of the population in urban areas in northeastern states, but that HIV prevention services for African Americans are inadequately distributed in the southeastern states. A local-level analysis was conducted for Alabama, where 68% of HIV/AIDS cases are among African Americans. Specific interventions such as street and community outreach, health communications, and public information are fairly well provided to African Americans in more urban cities in Alabama, however, individual- and group-level interventions have poor coverage in rural areas where a large percentage of African-Americans live. Overall, our study illustrates that the use of GIS adds value when used with other data sources to provide prevention services that are accessible to the populations most in need

    Centers For Mendelian Genomics: a Decade of Facilitating Gene Discovery

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    PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution. RESULTS: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships and participating in widespread data sharing, the CMGs have created resources, tools, and training for the larger community to foster understanding of genes and genome variation. The CMGs have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelian Phenotypes (Geno2MP) and VariantMatcher. CONCLUSION: The work is far from complete; strengthening communication between research and clinical realms, continued development and sharing of knowledge and tools, and improving access to richly characterized data sets are all required to diagnose the remaining molecularly undiagnosed patients

    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

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    Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

    Optical TiO and VO band emission in two embedded protostars: IRAS 04369+2539 and IRAS 05451+0037

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    Archival optical spectra from the Sloan Digital Sky Survey of two optically faint flat spectrum protostars, IRAS 04369+2539 and IRAS 05451+0037, show strong emission-line features including -- notably -- clear and broad emission across several molecular bands of TiO and VO. The molecular emission is indicative of dense, warm circumstellar gas and has been seen previously in only one object: the flat spectrum protostar IRAS 20496+4354 during a strong optical outburst (PTF 10nvg; Covey et al. 2011). The presence of broad molecular emission features in two additional objects having similar mid-infrared properties (but not known to be undergoing outbursts) could provide new insight into phases of rapid accretion / outflow at early stages of the protoplanetary disk. At present, the relevant geometry and the formation or heating mechanisms responsible for the observed TiO / VO cooling emission remain unexplained.Comment: accepted to A
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