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2022

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Genotype Classification Of Moraxella Bovis Using Maldi-Tof Ms Profiles, Hannah G. Olson, John Dustin Loy, Michael L. Clawson, Emily L. Wynn, Matthew M. Hille Dec 2022

Genotype Classification Of Moraxella Bovis Using Maldi-Tof Ms Profiles, Hannah G. Olson, John Dustin Loy, Michael L. Clawson, Emily L. Wynn, Matthew M. Hille

School of Veterinary and Biomedical Sciences: Faculty Publications

Moraxella bovis (M. bovis) is regarded as a causative agent of infectious bovine keratoconjunctivitis (IBK), the most common ocular disease of cattle. Recently, whole genome sequencing identified the presence of two distinct genotypes within M. bovis that differ in chromosome content, potential virulence factors, as well as prophage and plasmid profiles. It is unclear if the genotypes equally associate with IBK or if one is more likely to be isolated from IBK lesions. We utilized 39 strains of M. bovis that had previously undergone whole genome sequencing and genotype classification to determine the utility of matrix-assisted laser desorption/ionization …


Intestinal Gas Production By The Gut Microbiota: A Review, Erasme Mutuyemungu, Mukti Singh, Sean Liu, Devin J. Rose Dec 2022

Intestinal Gas Production By The Gut Microbiota: A Review, Erasme Mutuyemungu, Mukti Singh, Sean Liu, Devin J. Rose

Department of Food Science and Technology: Faculty Publications

In addition to causing embarrassment, intestinal gas can be associated with more serious symptoms. This review provides an overview of gas production by the human gut microbiome and outlines foods associated with intestinal gas. Bacteroides, Ruminococcus, Roseburia, Clostridium, Eubacterium, Desulfovibrio, and Methanobrevibacter are among the most abundant microbes responsible for intestinal gas. More than 99% of intestinal gas is composed of hydrogen, carbon dioxide, and methane, while less than 1% is composed of other odiferous compounds. Food groups associated with intestinal gas include pulses, vegetables, fruits, grains, and, for some individuals, dairy. These foods are …


Safety Of Lenadogene Nolparvovec Gene Therapy Over 5 Years In 189 Patients With Leber Hereditary Optic Neuropathy, Catherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J. Newman, Valerio Carelli, Mark L. Moster, Valerie Biousse, Prem S. Subramanian, An-Guor Wang, Sean P. Donahue, Bart P. Leroy, Alfredo A. Sadun, Thomas Klopstock, Robert C. Sergott, Gema Rebolleda Fernandez, Bart K. Chwalisz, Rudrani Banik, Magali Taiel, Michel Roux, José-Alain Sahel Dec 2022

Safety Of Lenadogene Nolparvovec Gene Therapy Over 5 Years In 189 Patients With Leber Hereditary Optic Neuropathy, Catherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J. Newman, Valerio Carelli, Mark L. Moster, Valerie Biousse, Prem S. Subramanian, An-Guor Wang, Sean P. Donahue, Bart P. Leroy, Alfredo A. Sadun, Thomas Klopstock, Robert C. Sergott, Gema Rebolleda Fernandez, Bart K. Chwalisz, Rudrani Banik, Magali Taiel, Michel Roux, José-Alain Sahel

Wills Eye Hospital Papers

Purpose

To evaluate the safety profile of lenadogene nolparvovec (Lumevoq) in patients with Leber hereditary optic neuropathy.

Design

Pooled analysis of safety data from 5 clinical studies.

Methods

A total of 189 patients received single unilateral or bilateral intravitreal injections of a recombinant adeno-associated virus 2 (rAAV2/2) vector encoding the human wild-type ND4 gene. Adverse events (AEs) were collected throughout the studies, up to 5 years. Intraocular inflammation and increased intraocular pressure (IOP) were ocular AEs of special interest. Other assessments included ocular examinations, vector bio-dissemination, and systemic immune responses against rAAV2/2.

Results

Almost all patients (95.2%) received 9 × …


Evidence-Based Study: The Effect Of The Covid-19 Pandemic On Post-Secondary Enrollment And Chosen Fields Of Study, Hannah Fields '25 Dec 2022

Evidence-Based Study: The Effect Of The Covid-19 Pandemic On Post-Secondary Enrollment And Chosen Fields Of Study, Hannah Fields '25

Student Research

The onset of the COVID-19 pandemic in the United States in March of 2020 derailed educational systems at all levels. Specifically, at the post-secondary level, the pandemic sent many students online or forced them to take a fifth year to complete their degrees. As a result, post-secondary enrollment rates are likely to have dropped to reflect these changing post-COVID views surrounding education. Additionally, changing viewpoints about the essentiality of certain jobs and roles changed the chosen fields of study of these same students. Data for this study was collected by way of a short-scale meta-analysis, and enrollment rates were split …


Finding Balance: A Content Analysis Of How Newspaper Authors Framed Simone Biles Before, During, And After The 2020 Olympic Games, Hadley Howell Dec 2022

Finding Balance: A Content Analysis Of How Newspaper Authors Framed Simone Biles Before, During, And After The 2020 Olympic Games, Hadley Howell

Master's Theses

Simone Biles was considered the GOAT, Greatest of All Time, going into the 2020 Olympic Games. However, after the COVID-19 pandemic, the Larry Nassar trial, and the weight of the world on her shoulders, Biles would withdraw from the women’s gymnastics team final competition for mental health reasons. Thus, the following study examines how Biles was framed in the ten most circulated newspapers in the United States before, during, and after the 2020 Olympic Games. Results show that an author’s race and gender, topic of the article, type of article, and if an article contained an image or not ultimately …


Impacts Of The Poultry Industry In Mississippi, Sara Watts Dec 2022

Impacts Of The Poultry Industry In Mississippi, Sara Watts

Master's Theses

This thesis examines the impacts of the poultry industry in seven counties in the Piney Woods region of South Mississippi: Wayne, Jones, Forrest, Lamar, Jefferson Davis, Marion, and Pike. Current research indicates that the poultry industry has a significant impact on the cultures and economies of rural towns throughout the United States. There is no current research that examines the effects of the poultry industry on residents of the Piney Woods. This thesis addresses that gap in the research and contributes to current understanding of how the industry molds and impacts the lives of those intimately associated with it.

I …


Message Convergence In Information Seeking And Decision Making Among Adult Children Regarding Their Parent's Diagnosis, Collyn Leggett Dec 2022

Message Convergence In Information Seeking And Decision Making Among Adult Children Regarding Their Parent's Diagnosis, Collyn Leggett

Master's Theses

Adult children have a unique role in caregiving and decision-making for a parent diagnosed with a life-threatening illness or condition. In this qualitative study, 15 individuals participated in one-on-one interviews to share their experience seeking information for their parent’s life-threatening diagnosis. This study utilized deductive and inductive coding approaches through axial coding, and two coders analyzed the data through a lens of message convergence framework and uncertainty management. The results show participants engage in information seeking from personal connections to the medical field to retrieve additional information from a more familiar, trusted source. The participants managed uncertainty retrospectively by reassessing …


Montana Kaimin, December 8, 2022, Students Of The University Of Montana, Missoula Dec 2022

Montana Kaimin, December 8, 2022, Students Of The University Of Montana, Missoula

Montana Kaimin, 1898-present

Student newspaper of the University of Montana, Missoula.


Stillbirth After Adolescent And Young Adult Cancer: A Population-Based Study, Caitlin C Murphy, Andrea C Betts, Marlyn A Allicock, L Aubree Shay, Sharice M Preston, Barbara A Cohn, Philip J Lupo, Sandi L Pruitt Dec 2022

Stillbirth After Adolescent And Young Adult Cancer: A Population-Based Study, Caitlin C Murphy, Andrea C Betts, Marlyn A Allicock, L Aubree Shay, Sharice M Preston, Barbara A Cohn, Philip J Lupo, Sandi L Pruitt

Faculty, Staff and Student Publications

BACKGROUND: Gonadotoxic effects of cancer treatment may increase risk of adverse birth outcomes in adolescent and young adult (AYA, aged 15-39 years) women diagnosed with cancer. We estimated risk of stillbirth (fetal death of gestational age ≥20 weeks or weighing ≥350 grams) in a population-based sample of AYA women.

METHODS: AYA women diagnosed with cancer between January 1, 1995, and December 31, 2015, were identified using the Texas Cancer Registry and linked to live birth and fetal death certificates through December 31, 2016. Among AYA women, cumulative incidence of stillbirth was estimated by gestational age, and Poisson regression models identified …


Potential Probiotic Properties Of Exopolysaccharide-Producing Lacticaseibacillus Paracasei Eps Da-Bacs And Prebiotic Activity Of Its Exopolysaccharide, Min-Gyu Lee, Huijin Joeng, Jaein Shin, Suin Kim, Chaeeun Lee, Youngbo Song, Byung-Hoo Lee, Hyoung-Geun Park, Tae-Ho Lee, Hai-Hua Jiang, Young-Sun Han, Bong-Gyeong Lee, Ho-Jin Lee, Min-Ju Park, Yun-Ju Jun, Young-Seo Park Dec 2022

Potential Probiotic Properties Of Exopolysaccharide-Producing Lacticaseibacillus Paracasei Eps Da-Bacs And Prebiotic Activity Of Its Exopolysaccharide, Min-Gyu Lee, Huijin Joeng, Jaein Shin, Suin Kim, Chaeeun Lee, Youngbo Song, Byung-Hoo Lee, Hyoung-Geun Park, Tae-Ho Lee, Hai-Hua Jiang, Young-Sun Han, Bong-Gyeong Lee, Ho-Jin Lee, Min-Ju Park, Yun-Ju Jun, Young-Seo Park

Faculty, Staff and Student Publications

Exopolysaccharide (EPS)-producing Lacticaseibacillus paracasei EPS DA-BACS was isolated from healthy human feces and its probiotic properties, as well as the structure and prebiotic activity of the EPS from this strain were examined. EPS from L. paracasei EPS DA-BACS had a ropy phenotype, which is known to have potential health benefits and is identified as loosely cell-bounded glucomannan-type EPS with a molecular size of 3.7 × 106 Da. EPS promoted the acid tolerance of L. paracasei EPS DA-BACS and provided cells with tolerance to gastrointestinal stress. The purified EPS showed growth inhibitory activity against Clostridium difficile. L. paracasei EPS DA-BACS cells …


Workiva Strategic Audit, Rose Pilakowski Dec 2022

Workiva Strategic Audit, Rose Pilakowski

Honors Program: Senior Projects (Public)

Workiva is a software development company that simplifies complex reports for companies in over 180 countries around the world. Within a controlled, secure, audit-ready platform, Workiva customers connect critical business data directly with their source systems. This paper will analyze Workiva to help understand how it utilizes its platform to gain and sustain competitive advantages in the software and accounting environments. After completing an analysis of Workiva and its industry, I found that Workiva currently sits at an advantageous position in relation to its competitors, but still has room to grow in holding the lead above them.


Description Of The Immature Stages Of Dacus Bivittatus (Diptera: Tephritidae), The Greater Pumpkin Fruit Fly, Gary J. Steck, Shepard Ndlela, Louis A. Somma, Jessica Diaz, Matthew R. Moore, Jessica Awad Dec 2022

Description Of The Immature Stages Of Dacus Bivittatus (Diptera: Tephritidae), The Greater Pumpkin Fruit Fly, Gary J. Steck, Shepard Ndlela, Louis A. Somma, Jessica Diaz, Matthew R. Moore, Jessica Awad

All Peer-Reviewed Publications

We describe the egg, three instars, and pupa of Dacus bivittatus Bigot using optical and scanning electron microscopy and compare them with those of other Dacus Fabricius species for which these stages have been described as well as those of two important pest species of Zeugodacus Hendel that infest cucurbits. A new anatomical term, lateral lips, is introduced to describe a feature of the facial mask. A feature of the egg that has not been reported previously for Tephritidae is described here: a peculiar arrangement of aeropyles in an irregular line partially encircling the egg near the posterior end. A …


The Resident View In Community- Based Care Residential Settings, Diana L. White, Ozcan Tunalilar, Serena Hasworth, Jaclyn Winfree Dec 2022

The Resident View In Community- Based Care Residential Settings, Diana L. White, Ozcan Tunalilar, Serena Hasworth, Jaclyn Winfree

Institute on Aging Publications

The Resident VIEW is a measure of person-centered care (PCC) from residents’ perspectives and was previously studied in nursing homes. The current study presents descriptive data for the Resident VIEW in community-based care settings including assisted living, residential care (AL/RC), and adult foster homes (AFH). Using a two-stage sampling design, we recruited 31 AL/RC and 119 AFH in Oregon and completed face-to-face structured interviews with 227 and 195 residents, respectively. Residents provided ratings for both the importance of and their experience with 66 items that tapped into PCC practices in eight domains. Results are provided for each item, many of …


December 8, 2022, James Madison University Dec 2022

December 8, 2022, James Madison University

The Breeze, 2020-

The Breeze is the student newspaper of James Madison University in Harrisonburg, Virginia.


The Student Movement Volume 107 Issue 11: Have A Merry Christmas! Xoxo, The Student Movement, Solana Campbell, Caryn Cruz, Grace No, Gloria Oh, Nathaniel Reid, Skylor Stark, Ysabelle Fernando, Ceiry Flores, Hannah Cruse, Alexander J. Hess, Alexander Navarro, Rachel Ingram-Clay, Elizabeth Getahun, Kayla-Hope Bruno, Wambui Karanja, Lexie Dunham, Reagan Mccain, Melissa Moore, Elizabeth Dovich Dec 2022

The Student Movement Volume 107 Issue 11: Have A Merry Christmas! Xoxo, The Student Movement, Solana Campbell, Caryn Cruz, Grace No, Gloria Oh, Nathaniel Reid, Skylor Stark, Ysabelle Fernando, Ceiry Flores, Hannah Cruse, Alexander J. Hess, Alexander Navarro, Rachel Ingram-Clay, Elizabeth Getahun, Kayla-Hope Bruno, Wambui Karanja, Lexie Dunham, Reagan Mccain, Melissa Moore, Elizabeth Dovich

The Student Movement v. 107 (2022-2023)

HUMANS

Coping with Finals, Solana Campbell

Meet Jea Erazo, AUSA Public Relations Officer. Interviewed by: Caryn Cruz

Remembering Sharon Dudgeon, Grace No

Women in STEM: Olivia Joyce, Interviewed by: Gloria Oh

ARTS & ENTERTAINMENT

Football Sunday, Nathaniel Reid, Skylor Stark

Student Picks: Christmas Classics, Ysabelle Fernando

NEWS

AFIA x MLS Christmas Party, Ceiry Flores

Boycotts and Bans at the Qatar World Cup, Hannah Cruse

In Loving Memory of Seth Williams, Gloria Oh

IDEAS

How Do We Address Queer Violence?, Alexander J. Hess

Is Reality Really Real When You Aren't Really Looking?, Alexander Navarro

Reflecting on Christmas Traditions, Rachel Ingram-Clay

The …


Interlibrary Loan And Document Delivery In North American Health Sciences Libraries During The Early Months Of The Covid-19 Pandemic, Jennifer K. Lloyd, Kristine M. Alpi, Margaret A. Hoogland, Priscilla L. Stephenson, Elizabeth Meyer Dec 2022

Interlibrary Loan And Document Delivery In North American Health Sciences Libraries During The Early Months Of The Covid-19 Pandemic, Jennifer K. Lloyd, Kristine M. Alpi, Margaret A. Hoogland, Priscilla L. Stephenson, Elizabeth Meyer

Library Faculty Publications

Objective: The study purpose was to understand how early months of the COVID-19 pandemic altered interlibrary loan (ILL) and document delivery (DD) in North American health science libraries (HSLs), specifically the decision-making and workflow adjustments associated with accessing their own collections and obtaining content not available via ILL.

Methods: Researchers distributed an online 26-question survey through 24 health science library email lists from January 6-February 7, 2021. Respondents reported their library’s ILL and DD activities from March-August 2020, including ILL/DD usage and policies, collection access, decision-making, and workflow adjustments. In addition to calculating frequencies, cross-tabulation and statistical tests were performed …


Vista: December 8, 2022, University Of San Diego Dec 2022

Vista: December 8, 2022, University Of San Diego

USD Vista (1965-)

No abstract provided.


The Kenyon Collegian - December 8, 2022 Dec 2022

The Kenyon Collegian - December 8, 2022

The Kenyon Collegian

No abstract provided.


Hardships, Motivations, And Resiliency: Case Study Of Health Implications Of 2022 Russian Invasion On Ukrainian Resistance Members, Jessi Hanson-Defusco Dec 2022

Hardships, Motivations, And Resiliency: Case Study Of Health Implications Of 2022 Russian Invasion On Ukrainian Resistance Members, Jessi Hanson-Defusco

Journal of Social, Behavioral, and Health Sciences

The 2022 Russian full-scale invasion of Ukraine caused millions of Ukrainians to flee. Yet most citizens continue to reside in the country, playing critical roles in the Ukrainian resistance. Today the Ukrainian fighting force includes trained military and police as well as citizens who either were conscripted or volunteered to take part in national war efforts. This mixed-method study conducted in Spring 2022 presents data collected from 79 respondents in a semistructured survey, using snowball sampling. Data analysis examined individual self-reported motivations, attitudes toward the conflict, resilience, quality-of-life hardships, and scaled perceived stress. Results indicated that Ukrainian resistance members face …


The Time Is Right For An Antarctic Biorepository Network, Kristin M. O’Brien, Elizabeth L. Crockett, Bryon J. Adams, Charles D. Amsler, Hannah J. Appiah-Madson, Allen Collins, Thomas Desvignes, Sarah Eppley, Multiple Additional Authors Dec 2022

The Time Is Right For An Antarctic Biorepository Network, Kristin M. O’Brien, Elizabeth L. Crockett, Bryon J. Adams, Charles D. Amsler, Hannah J. Appiah-Madson, Allen Collins, Thomas Desvignes, Sarah Eppley, Multiple Additional Authors

Biology Faculty Publications and Presentations

Antarctica is a central driver of the Earth’s climate and health. The Southern Ocean surrounding Antarctica serves as a major sink for anthropogenic CO2 and heat (1), and the loss of Antarctic ice sheets contributes significantly to sea level rise and will continue to do so as the loss of ice sheets accelerates, with sufficient water stores to raise sea levels by 58 m (2). Antarctica's marine environment is home to a number of iconic species, and the terrestrial realm harbors a remarkable oasis for life, much of which has yet to be discovered (3). Distinctive oceanographic features of the …


A Meta-Analysis Of Antecedent Exercise On Children’S Classroom Behaviors, Chelsea Johnson Dec 2022

A Meta-Analysis Of Antecedent Exercise On Children’S Classroom Behaviors, Chelsea Johnson

Master's Theses

The purpose of the current study was to systematically review the literature investigating the effects of antecedent aerobic exercise on students with emotional and behavioral disorders. Eighteen studies met inclusion criteria, which included single case design studies and group studies, participant age, and an exercise intervention. Tau U was used as the procedure to calculate an effect size for A-B contrasts for single case design studies and effect size ranged from small to moderate for multiple variables such as disruptive behavior and academically engaged behavior. Hedges g was used to calculate an omnibus effect size for all single case design …


Whole Genome Sequencing Identifies Structural Variants Contributing To Hematologic Traits In The Nhlbi Topmed Program, Marsha M Wheeler, Adrienne M Stilp, Shuquan Rao, Bjarni V Halldórsson, Doruk Beyter, Jia Wen, Anna V Mihkaylova, Caitlin P Mchugh, John Lane, Min-Zhi Jiang, Laura M Raffield, Goo Jun, Fritz J Sedlazeck, Ginger Metcalf, Yao Yao, Joshua B Bis, Nathalie Chami, Paul S De Vries, Pinkal Desai, James S Floyd, Yan Gao, Kai Kammers, Wonji Kim, Jee-Young Moon, Aakrosh Ratan, Lisa R Yanek, Laura Almasy, Lewis C Becker, John Blangero, Michael H Cho, Joanne E Curran, Myriam Fornage, Robert C Kaplan, Joshua P Lewis, Ruth J F Loos, Braxton D Mitchell, Alanna C Morrison, Michael Preuss, Bruce M Psaty, Stephen S Rich, Jerome I Rotter, Hua Tang, Russell P Tracy, Eric Boerwinkle, Goncalo R Abecasis, Thomas W Blackwell, Albert V Smith, Andrew D Johnson, Rasika A Mathias, Deborah A Nickerson, Matthew P Conomos, Yun Li, Unnur Þorsteinsdóttir, Magnús K Magnússon, Kari Stefansson, Nathan D Pankratz, Daniel E Bauer, Paul L Auer, Alex P Reiner Dec 2022

Whole Genome Sequencing Identifies Structural Variants Contributing To Hematologic Traits In The Nhlbi Topmed Program, Marsha M Wheeler, Adrienne M Stilp, Shuquan Rao, Bjarni V Halldórsson, Doruk Beyter, Jia Wen, Anna V Mihkaylova, Caitlin P Mchugh, John Lane, Min-Zhi Jiang, Laura M Raffield, Goo Jun, Fritz J Sedlazeck, Ginger Metcalf, Yao Yao, Joshua B Bis, Nathalie Chami, Paul S De Vries, Pinkal Desai, James S Floyd, Yan Gao, Kai Kammers, Wonji Kim, Jee-Young Moon, Aakrosh Ratan, Lisa R Yanek, Laura Almasy, Lewis C Becker, John Blangero, Michael H Cho, Joanne E Curran, Myriam Fornage, Robert C Kaplan, Joshua P Lewis, Ruth J F Loos, Braxton D Mitchell, Alanna C Morrison, Michael Preuss, Bruce M Psaty, Stephen S Rich, Jerome I Rotter, Hua Tang, Russell P Tracy, Eric Boerwinkle, Goncalo R Abecasis, Thomas W Blackwell, Albert V Smith, Andrew D Johnson, Rasika A Mathias, Deborah A Nickerson, Matthew P Conomos, Yun Li, Unnur Þorsteinsdóttir, Magnús K Magnússon, Kari Stefansson, Nathan D Pankratz, Daniel E Bauer, Paul L Auer, Alex P Reiner

Faculty, Staff and Student Publications

Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits. Using single variant tests, we assessed the association of common and rare structural variants with red cell-, white cell-, and platelet-related quantitative traits …


An Elf4 Hypomorphic Variant Results In Nk Cell Deficiency, Sandra Andrea Salinas, Emily M Mace, Matilde I Conte, Chun Shik Park, Yu Li, Joshua I Rosario-Sepulveda, Sanjana Mahapatra, Emily K Moore, Evelyn R Hernandez, Ivan K Chinn, Abigail E Reed, Barclay J Lee, Alexander Frumovitz, Richard A Gibbs, Jennifer E Posey, Lisa R Forbes Satter, Akaluck Thatayatikom, Eric J Allenspach, Theodore G Wensel, James R Lupski, H Daniel Lacorazza, Jordan S Orange Dec 2022

An Elf4 Hypomorphic Variant Results In Nk Cell Deficiency, Sandra Andrea Salinas, Emily M Mace, Matilde I Conte, Chun Shik Park, Yu Li, Joshua I Rosario-Sepulveda, Sanjana Mahapatra, Emily K Moore, Evelyn R Hernandez, Ivan K Chinn, Abigail E Reed, Barclay J Lee, Alexander Frumovitz, Richard A Gibbs, Jennifer E Posey, Lisa R Forbes Satter, Akaluck Thatayatikom, Eric J Allenspach, Theodore G Wensel, James R Lupski, H Daniel Lacorazza, Jordan S Orange

Faculty, Staff and Students Publications

NK cell deficiencies (NKD) are a type of primary immune deficiency in which the major immunologic abnormality affects NK cell number, maturity, or function. Since NK cells contribute to immune defense against virally infected cells, patients with NKD experience higher susceptibility to chronic, recurrent, and fatal viral infections. An individual with recurrent viral infections and mild hypogammaglobulinemia was identified to have an X-linked damaging variant in the transcription factor gene ELF4. The variant does not decrease expression but disrupts ELF4 protein interactions and DNA binding, reducing transcriptional activation of target genes and selectively impairing ELF4 function. Corroborating previous murine models …


Lpa Disruption With Aav-Crispr Potently Lowers Plasma Apo(A) In Transgenic Mouse Model: A Proof-Of-Concept Study, Alexandria M Doerfler, So Hyun Park, Julia M Assini, Amer Youssef, Lavanya Saxena, Adam B Yaseen, Marco De Giorgi, Marcel Chuecos, Ayrea E Hurley, Ang Li, Santica M Marcovina, Gang Bao, Michael B Boffa, Marlys L Koschinsky, William R Lagor Dec 2022

Lpa Disruption With Aav-Crispr Potently Lowers Plasma Apo(A) In Transgenic Mouse Model: A Proof-Of-Concept Study, Alexandria M Doerfler, So Hyun Park, Julia M Assini, Amer Youssef, Lavanya Saxena, Adam B Yaseen, Marco De Giorgi, Marcel Chuecos, Ayrea E Hurley, Ang Li, Santica M Marcovina, Gang Bao, Michael B Boffa, Marlys L Koschinsky, William R Lagor

Faculty, Staff and Students Publications

Lipoprotein(a) (Lp(a)) represents a unique subclass of circulating lipoprotein particles and consists of an apolipoprotein(a) (apo(a)) molecule covalently bound to apolipoprotein B-100. The metabolism of Lp(a) particles is distinct from that of low-density lipoprotein (LDL) cholesterol, and currently approved lipid-lowering drugs do not provide substantial reductions in Lp(a), a causal risk factor for cardiovascular disease. Somatic genome editing has the potential to be a one-time therapy for individuals with extremely high Lp(a). We generated an LPA transgenic mouse model expressing apo(a) of physiologically relevant size. Adeno-associated virus (AAV) vector delivery of CRISPR-Cas9 was used to disrupt the LPA transgene in …


Whole Genome Sequencing Identifies Structural Variants Contributing To Hematologic Traits In The Nhlbi Topmed Program, Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen, Anna V. Mihkaylova, Laura Almasy, John Blangero, Joanne E. Curran Dec 2022

Whole Genome Sequencing Identifies Structural Variants Contributing To Hematologic Traits In The Nhlbi Topmed Program, Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen, Anna V. Mihkaylova, Laura Almasy, John Blangero, Joanne E. Curran

School of Medicine Publications

Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits. Using single variant tests, we assessed the association of common and rare structural variants with red cell-, white cell-, and platelet-related quantitative …


Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Pirooz Eghtesady, Et Al. Dec 2022

Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Pirooz Eghtesady, Et Al.

2020-Current year OA Pubs

BACKGROUND: Although perioperative prophylactic glucocorticoids have been used for decades, whether they improve outcomes in infants after heart surgery with cardiopulmonary bypass is unknown.

METHODS: We conducted a multicenter, prospective, randomized, placebo-controlled, registry-based trial involving infants (<1 year of age) undergoing heart surgery with cardiopulmonary bypass at 24 sites participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database. Registry data were used in the evaluation of outcomes. The infants were randomly assigned to receive prophylactic methylprednisolone (30 mg per kilogram of body weight) or placebo, which was administered into the cardiopulmonary-bypass pump-priming fluid. The primary end point was a ranked composite of death, heart transplantation, or any of 13 major complications. Patients without any of these events were assigned a ranked outcome based on postoperative length of stay. In the primary analysis, the ranked outcomes were compared between the trial groups with the use of odds ratios adjusted for prespecified risk factors. Secondary analyses included an unadjusted odds ratio, a win ratio, and safety outcomes.

RESULTS: A total of 1263 infants underwent randomization, of whom 1200 received either methylprednisolone (599 infants) or placebo (601 infants). The likelihood of a worse outcome did not differ significantly between the methylprednisolone group and the placebo group (adjusted odds ratio, 0.86; 95% confidence interval [CI], 0.71 to 1.05; P = 0.14). Secondary analyses (unadjusted for risk factors) showed an odds ratio for …


Brain Transplantation Of Genetically Corrected Sanfilippo Type B Neural Stem Cells Induces Partial Cross-Correction Of The Disease, Yewande Pearse, Don Clarke, Shih-Hsin Kan, Steven Q Le, Valentina Sanghez, Anna Luzzi, Ivy Pham, Lina R Nih, Jonathan D Cooper, Patricia I Dickson, Michelina Iacovino Dec 2022

Brain Transplantation Of Genetically Corrected Sanfilippo Type B Neural Stem Cells Induces Partial Cross-Correction Of The Disease, Yewande Pearse, Don Clarke, Shih-Hsin Kan, Steven Q Le, Valentina Sanghez, Anna Luzzi, Ivy Pham, Lina R Nih, Jonathan D Cooper, Patricia I Dickson, Michelina Iacovino

2020-Current year OA Pubs

Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) is a recessive genetic disorder that severely affects the brain due to a deficiency in the enzyme α-


Trends In Esophageal Adenocarcinoma And Esophageal Squamous Cell Carcinoma Incidence In The United States From 1992 To 2019, Kyle S Liu, Syed Ahsan Raza, Hashem B El-Serag, Aaron P Thrift Dec 2022

Trends In Esophageal Adenocarcinoma And Esophageal Squamous Cell Carcinoma Incidence In The United States From 1992 To 2019, Kyle S Liu, Syed Ahsan Raza, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

Simple Summary

The incidence of esophageal cancer overall has increased in the United States, driven by increasing rates of esophageal adenocarcinoma (EAC). However, whether rates of EAC are still rising is unclear. We examined trends in esophageal cancer overall and within important sub-groups of the population. We found that esophageal squamous cell carcinoma (ESCC) rates have been steadily declining, while EAC rates rose rapidly before stabilizing in 2000. The trend of decreasing incidence of ESCC was observed almost uniformly by age group, sex, and race/ethnicity, while trends in EAC rates varied across these sub-groups. A cohort effect for EAC was …


Lpa Disruption With Aav-Crispr Potently Lowers Plasma Apo(A) In Transgenic Mouse Model: A Proof-Of-Concept Study, Alexandria M Doerfler, So Hyun Park, Julia M Assini, Amer Youssef, Lavanya Saxena, Adam B Yaseen, Marco De Giorgi, Marcel Chuecos, Ayrea E Hurley, Ang Li, Santica M Marcovina, Gang Bao, Michael B Boffa, Marlys L Koschinsky, William R Lagor Dec 2022

Lpa Disruption With Aav-Crispr Potently Lowers Plasma Apo(A) In Transgenic Mouse Model: A Proof-Of-Concept Study, Alexandria M Doerfler, So Hyun Park, Julia M Assini, Amer Youssef, Lavanya Saxena, Adam B Yaseen, Marco De Giorgi, Marcel Chuecos, Ayrea E Hurley, Ang Li, Santica M Marcovina, Gang Bao, Michael B Boffa, Marlys L Koschinsky, William R Lagor

Faculty, Staff and Students Publications

Lipoprotein(a) (Lp(a)) represents a unique subclass of circulating lipoprotein particles and consists of an apolipoprotein(a) (apo(a)) molecule covalently bound to apolipoprotein B-100. The metabolism of Lp(a) particles is distinct from that of low-density lipoprotein (LDL) cholesterol, and currently approved lipid-lowering drugs do not provide substantial reductions in Lp(a), a causal risk factor for cardiovascular disease. Somatic genome editing has the potential to be a one-time therapy for individuals with extremely high Lp(a). We generated an


Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Prince J Kannankeril, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Sean M O'Brien, David P Bichel, Eric M Graham, Brian Blasiole, Ashraf Resheidat, Adil S Husain, S Ram Kumar, Jerry L Kirchner, Dianne S Gallup, Joseph W Turek, Mark Bleiweis, Bret Mettler, Alexis Benscoter, Eric Wald, Tara Karamlou, Andrew H Van Bergen, David Overman, Pirooz Eghtesady, Ryan Butts, John S Kim, John P Scott, Brett R Anderson, Michael F Swartz, Patrick I Mcconnell, David F Vener, Jennifer S Li, Stress Network Investigators Dec 2022

Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Prince J Kannankeril, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Sean M O'Brien, David P Bichel, Eric M Graham, Brian Blasiole, Ashraf Resheidat, Adil S Husain, S Ram Kumar, Jerry L Kirchner, Dianne S Gallup, Joseph W Turek, Mark Bleiweis, Bret Mettler, Alexis Benscoter, Eric Wald, Tara Karamlou, Andrew H Van Bergen, David Overman, Pirooz Eghtesady, Ryan Butts, John S Kim, John P Scott, Brett R Anderson, Michael F Swartz, Patrick I Mcconnell, David F Vener, Jennifer S Li, Stress Network Investigators

Faculty, Staff and Students Publications

BACKGROUND: Although perioperative prophylactic glucocorticoids have been used for decades, whether they improve outcomes in infants after heart surgery with cardiopulmonary bypass is unknown.

METHODS: We conducted a multicenter, prospective, randomized, placebo-controlled, registry-based trial involving infants (age) undergoing heart surgery with cardiopulmonary bypass at 24 sites participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database. Registry data were used in the evaluation of outcomes. The infants were randomly assigned to receive prophylactic methylprednisolone (30 mg per kilogram of body weight) or placebo, which was administered into the cardiopulmonary-bypass pump-priming fluid. The primary end point was a ranked composite …