38 research outputs found

    “Everything…Fell Apart Once COVID-19 Hit”—Leveraging the COVID-19 Response to Strengthen Public Health Activities toward Ending the HIV Epidemic: A Qualitative Study

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    COVID-19 caused widespread disruption of activities for Ending the HIV Epidemic (EHE). In this study we assessed public health perspectives on leveraging the COVID-19 response to advance the goals of EHE. We conducted a qualitative study with 33 public health partners in the Midwestern and Southern United States from October 2020 to February 2022. Participants were asked how the strategies developed for COVID-19 could be applied to the HIV epidemic. Interviews were recorded, transcribed, and examined using rapid qualitative analysis. Four themes emerged: (1) Rebuilding teams and adapting culture for success in EHE activities; (2) Recognizing and modernizing the role of disease intervention specialists (DIS); (3) Enhanced community awareness of the public health role in disease response and prevention; and (4) Leveraging COVID-19 data systems and infrastructure for EHE activities. The COVID-19 pandemic called attention to the dearth of public health funding and outdated information technology (IT) infrastructure used for HIV activities. It also led to greater public health knowledge, including increased familiarity with partner services and molecular epidemiology of HIV, and opportunities to develop new data systems for surveillance that can be applied to efforts for EHE

    The Grizzly, September 9, 2004

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    Make a Difference: How to Register to Vote • Computer Thefts Under Investigation • Republicans say Yes to Four More Years with Bush • A Costly Look at Carelessness • STAR Sponsors One Night • Turnpike Tolls Increase for Commuters • Insider\u27s Tips to Undergraduate and Graduate Awards • Been to Synagogue Lately? • Safety First • Segregation by Letter? • The Pop-up Problem • UC Fringe Festival Opens Wednesday • Parking at Ursinus Robs Convenience • Opinions: Is Technology Making Life Easier or Lazier?; Life During Wartime; Lick it, Stamp it, Mail it and then Rock the Vote • 2004 Bears Football Outlook • UC Hires new Cross Country / Track & Field Coach • Now that Stanton is Gone: Men\u27s Basketball Preview • Bearcox Preview • Olympic Games: Competitive or Controversial?https://digitalcommons.ursinus.edu/grizzlynews/1563/thumbnail.jp

    The Simons Observatory Large Aperture Telescope Receiver

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    The Simons Observatory (SO) Large Aperture Telescope Receiver (LATR) will be coupled to the Large Aperture Telescope located at an elevation of 5,200 m on Cerro Toco in Chile. The resulting instrument will produce arcminute-resolution millimeter-wave maps of half the sky with unprecedented precision. The LATR is the largest cryogenic millimeter-wave camera built to date with a diameter of 2.4 m and a length of 2.6 m. It cools 1200 kg of material to 4 K and 200 kg to 100 mk, the operating temperature of the bolometric detectors with bands centered around 27, 39, 93, 145, 225, and 280 GHz. Ultimately, the LATR will accommodate 13 40 cm diameter optics tubes, each with three detector wafers and a total of 62,000 detectors. The LATR design must simultaneously maintain the optical alignment of the system, control stray light, provide cryogenic isolation, limit thermal gradients, and minimize the time to cool the system from room temperature to 100 mK. The interplay between these competing factors poses unique challenges. We discuss the trade studies involved with the design, the final optimization, the construction, and ultimate performance of the system

    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

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    Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM\textit{CHM} in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

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    We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

    “Everything…Fell Apart Once COVID-19 Hit”—Leveraging the COVID-19 Response to Strengthen Public Health Activities toward Ending the HIV Epidemic: A Qualitative Study

    No full text
    COVID-19 caused widespread disruption of activities for Ending the HIV Epidemic (EHE). In this study we assessed public health perspectives on leveraging the COVID-19 response to advance the goals of EHE. We conducted a qualitative study with 33 public health partners in the Midwestern and Southern United States from October 2020 to February 2022. Participants were asked how the strategies developed for COVID-19 could be applied to the HIV epidemic. Interviews were recorded, transcribed, and examined using rapid qualitative analysis. Four themes emerged: (1) Rebuilding teams and adapting culture for success in EHE activities; (2) Recognizing and modernizing the role of disease intervention specialists (DIS); (3) Enhanced community awareness of the public health role in disease response and prevention; and (4) Leveraging COVID-19 data systems and infrastructure for EHE activities. The COVID-19 pandemic called attention to the dearth of public health funding and outdated information technology (IT) infrastructure used for HIV activities. It also led to greater public health knowledge, including increased familiarity with partner services and molecular epidemiology of HIV, and opportunities to develop new data systems for surveillance that can be applied to efforts for EHE

    Predictive Modeling of Lapses in Care for People Living with HIV in Chicago: Algorithm Development and Interpretation

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    BackgroundReducing care lapses for people living with HIV is critical to ending the HIV epidemic and beneficial for their health. Predictive modeling can identify clinical factors associated with HIV care lapses. Previous studies have identified these factors within a single clinic or using a national network of clinics, but public health strategies to improve retention in care in the United States often occur within a regional jurisdiction (eg, a city or county). ObjectiveWe sought to build predictive models of HIV care lapses using a large, multisite, noncurated database of electronic health records (EHRs) in Chicago, Illinois. MethodsWe used 2011-2019 data from the Chicago Area Patient-Centered Outcomes Research Network (CAPriCORN), a database including multiple health systems, covering the majority of 23,580 people with an HIV diagnosis living in Chicago. CAPriCORN uses a hash-based data deduplication method to follow people across multiple Chicago health care systems with different EHRs, providing a unique citywide view of retention in HIV care. From the database, we used diagnosis codes, medications, laboratory tests, demographics, and encounter information to build predictive models. Our primary outcome was lapses in HIV care, defined as having more than 12 months between subsequent HIV care encounters. We built logistic regression, random forest, elastic net logistic regression, and XGBoost models using all variables and compared their performance to a baseline logistic regression model containing only demographics and retention history. ResultsWe included people living with HIV with at least 2 HIV care encounters in the database, yielding 16,930 people living with HIV with 191,492 encounters. All models outperformed the baseline logistic regression model, with the most improvement from the XGBoost model (area under the receiver operating characteristic curve 0.776, 95% CI 0.768-0.784 vs 0.674, 95% CI 0.664-0.683; P<.001). Top predictors included the history of care lapses, being seen by an infectious disease provider (vs a primary care provider), site of care, Hispanic ethnicity, and previous HIV laboratory testing. The random forest model (area under the receiver operating characteristic curve 0.751, 95% CI 0.742-0.759) revealed age, insurance type, and chronic comorbidities (eg, hypertension), as important variables in predicting a care lapse. ConclusionsWe used a real-world approach to leverage the full scope of data available in modern EHRs to predict HIV care lapses. Our findings reinforce previously known factors, such as the history of prior care lapses, while also showing the importance of laboratory testing, chronic comorbidities, sociodemographic characteristics, and clinic-specific factors for predicting care lapses for people living with HIV in Chicago. We provide a framework for others to use data from multiple different health care systems within a single city to examine lapses in care using EHR data, which will aid in jurisdictional efforts to improve retention in HIV care
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