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2022

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Histopathological Study On The Effect Of Artemisinin Multiple Doses On The Pathogenesis And Immune Reaction Of Trichinella Spiralis In Albino Rats, Zeinab Dwidar, Hebatallah Mahgoub, Iman Ibrahim, Ahmed Elshaieb Dec 2022

Histopathological Study On The Effect Of Artemisinin Multiple Doses On The Pathogenesis And Immune Reaction Of Trichinella Spiralis In Albino Rats, Zeinab Dwidar, Hebatallah Mahgoub, Iman Ibrahim, Ahmed Elshaieb

Mansoura Veterinary Medical Journal

Objective: The aim of this study was to determine the therapeutic effect of Artemisinin multiple doses on the pathogenesis and immune reaction of Trichinella spiralis during the intestinal and muscular phases in albino rats.Design: Randomized controlled study.Animal Models: The experiment was performed on 80 adult albino rats of both sexes, weighting (160 g ±20g) and (4-6) weeks old.Procedures: rats were divided into four experimental groups, (Control negative) group, T. spiralis infested (TR) group: each animal was orally infested with 300 T. spiralis larvae, T. spiralis treated (AR+TR) group: each animal in this group was orally infested with 300 T. spiralis …


Ten Simple Rules And A Template For Creating Workflows-As-Applications, Michael J. Roach, N. Tessa Pierce-Ward, Radoslaw Suchecki, Vijini Mallawaarachchi, Bhavya Papudeshi, Scott A. Handley, C. Titus Brown, Nathan S. Watson-Haigh, Robert A. Edwards Dec 2022

Ten Simple Rules And A Template For Creating Workflows-As-Applications, Michael J. Roach, N. Tessa Pierce-Ward, Radoslaw Suchecki, Vijini Mallawaarachchi, Bhavya Papudeshi, Scott A. Handley, C. Titus Brown, Nathan S. Watson-Haigh, Robert A. Edwards

2020-Current year OA Pubs

No abstract provided.


An Efficient Automated Iris Recognition Classification Model Based On Different Convolutional Neural Networks And Transfer Learning., Ghada Abd El-Latif Shatat, Abeer Twakol, Ibrahim Yasser, Mohy Eldin Ahmed Abu Al Saud Dec 2022

An Efficient Automated Iris Recognition Classification Model Based On Different Convolutional Neural Networks And Transfer Learning., Ghada Abd El-Latif Shatat, Abeer Twakol, Ibrahim Yasser, Mohy Eldin Ahmed Abu Al Saud

Mansoura Engineering Journal

Iris is a common biometric used for identity verification. Iris identification is one of the best ways to give people individual authentication based on their iris anatomy. This paper's main objective is to evaluate how well these deep learning networks perform on iris image datasets. The image goes through the following stages: improving image quality; employing the Hough transform and the integro-differential operator to segment the iris; and reducing processing time by changing the image's 150x300 dimensions from Cartesian to polar coordinates. Transfer learning is used to implement the iris classification on three deep learning networks: VGG19, InceptionV3, and Iris …


Association Of Leukocyte Telomere Length With Perceived Physical Fatigability, Rain Katz, Emma L Gay, Allison L Kuipers, Joseph H Lee, Lawrence S Honig, Kaare Christensen, Mary F Feitosa, Mary K Wojczynski, Nancy W Glynn, Llfs Research Group Dec 2022

Association Of Leukocyte Telomere Length With Perceived Physical Fatigability, Rain Katz, Emma L Gay, Allison L Kuipers, Joseph H Lee, Lawrence S Honig, Kaare Christensen, Mary F Feitosa, Mary K Wojczynski, Nancy W Glynn, Llfs Research Group

2020-Current year OA Pubs

BACKGROUND: Leukocyte telomere length (LTL) is a potential genomic marker of biological aging, but its relation to fatigability, a prognostic indicator of phenotypic aging (e.g., functional decline) is unknown. We hypothesized shorter LTL would predict greater perceived physical fatigability, but that this association would be attenuated by adjusting for chronological age.

METHODS: Two generations of participants (N = 1997; 309 probands, 1688 offspring) were from the Long Life Family Study (age = 73.7 ± 10.4, range 60-108, 54.4 % women), a longitudinal cohort study of aging. LTL was assayed at baseline. Perceived physical fatigability was measured 8.0 ± 1.1 years …


Differential Roles Of Aβ42/40, P-Tau231 And P-Tau217 For Alzheimer's Trial Selection And Disease Monitoring, Nicholas J Ashton, Yan Li, Randall J Bateman, Et Al. Dec 2022

Differential Roles Of Aβ42/40, P-Tau231 And P-Tau217 For Alzheimer's Trial Selection And Disease Monitoring, Nicholas J Ashton, Yan Li, Randall J Bateman, Et Al.

2020-Current year OA Pubs

Blood biomarkers indicative of Alzheimer's disease (AD) pathology are altered in both preclinical and symptomatic stages of the disease. Distinctive biomarkers may be optimal for the identification of AD pathology or monitoring of disease progression. Blood biomarkers that correlate with changes in cognition and atrophy during the course of the disease could be used in clinical trials to identify successful interventions and thereby accelerate the development of efficient therapies. When disease-modifying treatments become approved for use, efficient blood-based biomarkers might also inform on treatment implementation and management in clinical practice. In the BioFINDER-1 cohort, plasma phosphorylated (p)-tau231 and amyloid-β42/40 ratio …


Highlighting Excellence In Small Schools, Anneris Coria-Navia, Aimee Leukert, Jerome Thayer, Maria Bastien Valenca, Elissa Kido Dec 2022

Highlighting Excellence In Small Schools, Anneris Coria-Navia, Aimee Leukert, Jerome Thayer, Maria Bastien Valenca, Elissa Kido

Faculty Publications

No abstract provided.


Faith-Based Counseling Versus Traditional Psychotherapy: A Phenomenological Evaluation Of African American Protestant Experiences, Shannon Gray Dec 2022

Faith-Based Counseling Versus Traditional Psychotherapy: A Phenomenological Evaluation Of African American Protestant Experiences, Shannon Gray

Dissertations

This phenomenological study was designed to evaluate the experiences of African American Christian adult clients within traditional psychotherapy and faith-based counseling settings. Research has shown various therapist/counselor identities affect Christian African American clients, and that Christians as well as African Americans have historically been less likely to pursue traditional psychotherapy for a variety of reasons. Participants were six African American Christian adult participants (three traditional psychotherapy participants and three faith-based counseling participants). All participants were asked open-ended questions about their experiences in traditional psychotherapy or faith-based counseling. In addition, they were asked to evaluate several aspects of their therapy/counseling experience …


Prenatal Opioid Use And Neonatal Abstinence Syndrome: A Review Of The Neurophysiological, Neuropsychological, And Behavioral/Emotional/Social Impacts In The Pediatric Population, Candice Gore Dec 2022

Prenatal Opioid Use And Neonatal Abstinence Syndrome: A Review Of The Neurophysiological, Neuropsychological, And Behavioral/Emotional/Social Impacts In The Pediatric Population, Candice Gore

Dissertations

The opioid epidemic over the past two decades has raised concerns regarding the developmental fetal impact of prenatal opioid use. Research in this area continues to grow, but largely has focused on treatment for neonates experiencing withdrawal symptoms postnatally. Long term clinical implications for this at-risk population have not been studied extensively leaving many gaps in research and highlighting the need for future empirical studies. This literature review will examine the neurophysiological, neuropsychological, and the behavioral/social/emotional impacts on infants, toddlers, and school aged children who were prenatally exposed to opioids with or without the diagnosis of neonatal abstinence syndrome. Providing …


Integrating Media Literacy Into General Education Core Courses For Undergraduates, Christen Embry Dec 2022

Integrating Media Literacy Into General Education Core Courses For Undergraduates, Christen Embry

Dissertations

This study aimed to understand the essential nature of media literacy, evaluate pre-developed higher education classes for existing media literacy context, and recommend best practices for incorporating media literacy into an undergraduate curriculum. This mixed-methods study of media literacy in undergraduate college courses explored the presence and absence of media literacy lessons within core classes by auditing 15 online course shells accessed through the university’s Learning Management System (LMS). Specifically, all the courses surveyed included the first skill of media literacy, Access; 33% of the classes included Analyze; 27% included Creation; 20% included Reflection; and 20% included Action. Once the …


Lifestyle Choices Related To Food Consumption And Their Relationship To Depression, Steven L. Jennings Jr. Dec 2022

Lifestyle Choices Related To Food Consumption And Their Relationship To Depression, Steven L. Jennings Jr.

Dissertations

Dieting, or the act of restricting oneself to small amounts or particular kinds of foods on the basis of health, spirituality, lifestyle, and moral decisions, is a practice that dates to 1066 A.D. However, with social media being as influential as it is, one might believe dieting is a new obsession or at least an obsession to which popular culture is returning. Despite this, it is only in recent years that researchers have begun to focus on the health benefits of such behaviors. The present study was designed to take this focus a step further by exploring the potential risks …


Exploring Immersive Learning Experiences: A Survey, Mohammad Amin Kuhail, Areej Elsayary, Shahbano Farooq, Ahlam Alghamdi Dec 2022

Exploring Immersive Learning Experiences: A Survey, Mohammad Amin Kuhail, Areej Elsayary, Shahbano Farooq, Ahlam Alghamdi

All Works

Immersive technologies have been shown to significantly improve learning as they can simplify and simulate complicated concepts in various fields. However, there is a lack of studies that analyze the recent evidence-based immersive learning experiences applied in a classroom setting or offered to the public. This study presents a systematic review of 42 papers to understand, compare, and reflect on recent attempts to integrate immersive technologies in education using seven dimensions: application field, the technology used, educational role, interaction techniques, evaluation methods, and challenges. The results show that most studies covered STEM (science, technology, engineering, math) topics and mostly used …


Associations Between Dietary Intake Of Vitamin D, Sun Exposure, And Generalized Anxiety Among College Women, Fatme Al Anouti, William B. Grant, Justin Thomas, Sharifa Alblooshi, Spyridon Karras Dec 2022

Associations Between Dietary Intake Of Vitamin D, Sun Exposure, And Generalized Anxiety Among College Women, Fatme Al Anouti, William B. Grant, Justin Thomas, Sharifa Alblooshi, Spyridon Karras

All Works

Vitamin D insufficiency impacts about half of the population worldwide. Almost one billion individuals across all ages and ethnicities suffer from vitamin D deficiency. Hypovitaminosis D is mainly related to lifestyle choices and habits, such as outdoor activities and food intake. Several studies have demonstrated a correlation between vitamin D status and anxiety symptoms. The main purpose of this study was to investigate the correlation between anxiety and factors including age, vitamin D deficiency, citizens, dietary and supplementary vitamin D intake, along with sun exposure, among a sample of female college students in the United Arab Emirates. A descriptive questionnaire, …


Guidelines For Assessment Of Cardiac Electrophysiology And Arrhythmias In Small Animals, Crystal M Ripplinger, Stacey L Rentschler, Et Al. Dec 2022

Guidelines For Assessment Of Cardiac Electrophysiology And Arrhythmias In Small Animals, Crystal M Ripplinger, Stacey L Rentschler, Et Al.

2020-Current year OA Pubs

Cardiac arrhythmias are a major cause of morbidity and mortality worldwide. Although recent advances in cell-based models, including human-induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM), are contributing to our understanding of electrophysiology and arrhythmia mechanisms, preclinical animal studies of cardiovascular disease remain a mainstay. Over the past several decades, animal models of cardiovascular disease have advanced our understanding of pathological remodeling, arrhythmia mechanisms, and drug effects and have led to major improvements in pacing and defibrillation therapies. There exist a variety of methodological approaches for the assessment of cardiac electrophysiology and a plethora of parameters may be assessed with each approach. …


Non-Small Cell Lung Cancer With Met Exon 14 Skip Mutation: Case Report, Wolfgang Clough, Mira Al Jaberi, Samir Dalia Dec 2022

Non-Small Cell Lung Cancer With Met Exon 14 Skip Mutation: Case Report, Wolfgang Clough, Mira Al Jaberi, Samir Dalia

Student Publications

Background: Non-small cell lung cancer (NSCLC) is the most common type of lung cancer, making up 80-85% of all lung malignancies. It can be further subdivided into different types. The three main subtypes are adenocarcinoma, squamous cell carcinoma, and large cell carcinoma. Traditionally, NSCLCs have been treated with a combination of chemotherapy, surgery, and/or radiation therapy. However, with the advent of genotype subtype analysis and targeted therapy it has become possible to have individualized treatment options for patients with NSCLC.

Case description: We present a case report of a 68-year-old female with NSCLC. Patient initially only received radiation therapy due …


Engineer And Test A Biodegradable Microneedle Patch To Deliver Meloxicam For Managing Pain In Cattle, Katherine Alejandra Miranda Munoz Dec 2022

Engineer And Test A Biodegradable Microneedle Patch To Deliver Meloxicam For Managing Pain In Cattle, Katherine Alejandra Miranda Munoz

Graduate Theses and Dissertations

Microneedle patches are a promising source for transdermal diffusion of macromolecules and are designed to painlessly penetrate the skin. In this study, a biodegradable chitosan microneedle patch to deliver meloxicam for managing pain in cattle was tested. The potential of reuse of the polymeric solution to fabricate the patches, optimization of fabrication, morphological analysis of the microneedle patch and analysis of preservation of the chemical composition after sterilization were evaluated. In-vitro analysis consisted of studying in-vitro penetration mechanical properties, compression testing analysis of microneedle patch, and in-vitro drug release analysis. In-vivo studies were performed to analyze the dissolution capability of …


Fiber-Based Time-Correlated Single Photon Counting As A Method For Investigating Metabolism During Tetanic Contraction Of Skeletal Muscle, Kathryn Miller Priest Dec 2022

Fiber-Based Time-Correlated Single Photon Counting As A Method For Investigating Metabolism During Tetanic Contraction Of Skeletal Muscle, Kathryn Miller Priest

Graduate Theses and Dissertations

Nicotinamide adenine dinucleotide (NAD) is a cofactor that serves to shuttle electrons during metabolic processes such as glycolysis, the tricarboxylic acid cycle, and oxidative phosphorylation (OXPHOS) [1-5]. The reduced form of NAD, NADH, is autofluorescent, making it a measurable characteristic in the investigation of metabolic changes. The fluorescence lifetime of NADH is dependent on the state of protein binding, specifically free or bound NADH, allowing for detection of metabolic shifts between glycolysis (free NADH) and OXPHOS (bound NADH) [6-16]. Fiber-coupled time-correlated single photon counting (TCSPC) equipped with an implantable needle probe can be used to measure NADH lifetime in vivo …


Controversies In Spine Research: Organ Culture Versus In Vivo Models For Studies Of The Intervertebral Disc, Shirley N Tang, Andres F Bonilla, Nadeen O Chahine, Aimee C Colbath, Jeremiah T Easley, Sibylle Grad, Lisbet Haglund, Christine L Le Maitre, Victor Leung, Annette M Mccoy, Devina Purmessur, Simon Y Tang, Stephan Zeiter, Lachlan J Smith Dec 2022

Controversies In Spine Research: Organ Culture Versus In Vivo Models For Studies Of The Intervertebral Disc, Shirley N Tang, Andres F Bonilla, Nadeen O Chahine, Aimee C Colbath, Jeremiah T Easley, Sibylle Grad, Lisbet Haglund, Christine L Le Maitre, Victor Leung, Annette M Mccoy, Devina Purmessur, Simon Y Tang, Stephan Zeiter, Lachlan J Smith

2020-Current year OA Pubs

Intervertebral disc degeneration is a common cause of low back pain, the leading cause of disability worldwide. Appropriate preclinical models for intervertebral disc research are essential to achieving a better understanding of underlying pathophysiology and for the development, evaluation, and translation of more effective treatments. To this end, in vivo animal and ex vivo organ culture models are both widely used by spine researchers; however, the relative strengths and weaknesses of these two approaches are a source of ongoing controversy. In this article, members from the Spine and Preclinical Models Sections of the Orthopedic Research Society, including experts in both …


Pilot Study: Parp1 Imaging In Advanced Prostate Cancer, Farrokh Dehdashti, Melissa A. Reimers, Kooresh I. Shoghi, Delphine L. Chen, Jingqin Luo, Buck Rogers, Russell K. Pachynski, Sreeja Sreekumar, Cody Weimholt, Dong Zhou Dec 2022

Pilot Study: Parp1 Imaging In Advanced Prostate Cancer, Farrokh Dehdashti, Melissa A. Reimers, Kooresh I. Shoghi, Delphine L. Chen, Jingqin Luo, Buck Rogers, Russell K. Pachynski, Sreeja Sreekumar, Cody Weimholt, Dong Zhou

2020-Current year OA Pubs

PURPOSE: PARP inhibitor (PARPi) therapy is approved for patients with metastatic castration-resistant prostate cancer (mCRPC) and homologous recombination repair (HRR) genomic aberrations. However, only a fraction of patients with BRCA1/2 mutations respond to PARPi therapy. In this pilot study, we assess PARP-1 expression in prostate cancer patients with and without HRR genomic alternations using a novel PARP-based imaging agent.

PROCEDURES: Nine advanced prostate cancer patients were studied with PET/CT and [

RESULTS: We found great variability in FTT uptake (SUV

CONCLUSIONS: FTT-PET/CT may serve as an alternate biomarker for PARP1 expression and a potential method for PARPi treatment selection.


Evaluating Translocation Strategies For Box Turtles In Urbanizing Landscapes, Elizabeth D. Hays Dec 2022

Evaluating Translocation Strategies For Box Turtles In Urbanizing Landscapes, Elizabeth D. Hays

Biological Sciences Undergraduate Honors Theses

Urbanization of landscapes, resulting in habitat degradation, loss, and fragmentation, is a significant contributor to the global decline of reptile biodiversity. Although translocation is a common management strategy for wildlife populations subject to urbanization, the efficacy of reptile translocation studies, including those of box turtles (Terrapene spp.), is highly variable. Hard-release translocation of box turtles has often proven ineffective due to homing attempts and rapid post-translocation movements. Some studies have presented soft-release as a possible method for mitigation of the negative effects of hard-release, yet those studies have also produced mixed results. Therefore, I radiotracked 18 translocated Terrapene carolina …


A Structural Examination Of The Connection Between The Amygdala And Nucleus Accumbens In Adolescents With Clinical Anxiety, Alyssa Griffith Dec 2022

A Structural Examination Of The Connection Between The Amygdala And Nucleus Accumbens In Adolescents With Clinical Anxiety, Alyssa Griffith

Biological Sciences Undergraduate Honors Theses

The prominence of anxiety disorders in today’s general population is a major public health concern. Advancing research of the underlying pathophysiology of anxiety disorders can lead to the discovery of effective treatment interventions to treat the mental and physical symptoms of anxiety, and thus improve quality of life. This study aimed to examine two brain areas in the limbic and reward systems, the amygdala and Nucleus Accumbens (NAcc), and the structural white matter connection between them. This neural circuit assigns affective valence to environmental stimuli and motivates behavior to avoid potential harm. This study utilized diffusion Magnetic Resonance Imaging (dMRI) …


Survey For Usage Of And Interest In Personalized Nutrition As A Possible Health Approach, Kimberly Garrett Dec 2022

Survey For Usage Of And Interest In Personalized Nutrition As A Possible Health Approach, Kimberly Garrett

Biological Sciences Undergraduate Honors Theses

Dietary factors can lead to chronic diseases and impact certain health factors such as sleep and mood. Personalized nutrition is based on an individual’s phenotype and genotype to meet specific dietary needs. This approach could be an intervention to benefit an individual’s health. This study surveyed a population to analyze the population’s view on and usage of personalized nutrition. The use of personalized nutrition was minimal, but there was interest within the population. In addition, a relationship between health and mood was found. However, the sample size was a limiting factor for this study. Future directions could include studying why …


Lifespan Benefits For The Combination Of Rapamycin Plus Acarbose And For Captopril In Genetically Heterogeneous Mice, Randy Strong, Kerry Kornfeld, Et Al. Dec 2022

Lifespan Benefits For The Combination Of Rapamycin Plus Acarbose And For Captopril In Genetically Heterogeneous Mice, Randy Strong, Kerry Kornfeld, Et Al.

2020-Current year OA Pubs

Mice bred in 2017 and entered into the C2017 cohort were tested for possible lifespan benefits of (R/S)-1,3-butanediol (BD), captopril (Capt), leucine (Leu), the Nrf2-activating botanical mixture PB125, sulindac, syringaresinol, or the combination of rapamycin and acarbose started at 9 or 16 months of age (RaAc9, RaAc16). In male mice, the combination of Rapa and Aca started at 9 months and led to a longer lifespan than in either of the two prior cohorts of mice treated with Rapa only, suggesting that this drug combination was more potent than either of its components used alone. In females, lifespan in mice …


Biomechanical And Sensory Feedback Regularize The Behavior Of Different Locomotor Central Pattern Generators, Kaiyu Deng, Hillel J. Chiel, Roger D. Quinn Dec 2022

Biomechanical And Sensory Feedback Regularize The Behavior Of Different Locomotor Central Pattern Generators, Kaiyu Deng, Hillel J. Chiel, Roger D. Quinn

Faculty Scholarship

This work presents an in-depth numerical investigation into a hypothesized two-layer central pattern generator (CPG) that controls mammalian walking and how different parameter choices might affect the stepping of a simulated neuromechanical model. Particular attention is paid to the functional role of features that have not received a great deal of attention in previous work: the weak cross-excitatory connectivity within the rhythm generator and the synapse strength between the two layers. Sensitivity evaluations of deafferented CPG models and the combined neuromechanical model are performed. Locomotion frequency is increased in two different ways for both models to investigate whether the model’s …


Targeting The Mtor Pathway For The Prevention Of Er-Negative Breast Cancer, Abhijit Mazumdar, William M Tahaney, Jamal L Hill, Yun Zhang, Sumankalai Ramachandran, Jitesh Kawedia, Jing Qian, Alejandro Contreras, Michelle I Savage, Lana A Vornik, Shizuko Sei, Altaf Mohammed, Powel H Brown Dec 2022

Targeting The Mtor Pathway For The Prevention Of Er-Negative Breast Cancer, Abhijit Mazumdar, William M Tahaney, Jamal L Hill, Yun Zhang, Sumankalai Ramachandran, Jitesh Kawedia, Jing Qian, Alejandro Contreras, Michelle I Savage, Lana A Vornik, Shizuko Sei, Altaf Mohammed, Powel H Brown

Faculty, Staff and Student Publications

Our results show that everolimus delays mammary tumor formation in multiple mouse models, suggesting that mTOR inhibitors will be useful for the prevention of ER-negative and triple-negative breast cancer in humans. See related Spotlight, p. 787.


Assessment For Deeper Understanding Using Concept Maps: Lessons Learned From Flipped Teaching Of Pharmacology, Munder Zagaar, Weichao Chen Dec 2022

Assessment For Deeper Understanding Using Concept Maps: Lessons Learned From Flipped Teaching Of Pharmacology, Munder Zagaar, Weichao Chen

Faculty, Staff and Students Publications

To foster a deeper understanding of pharmacology concepts among physician assistant students, we integrated concept mapping into our flipped teaching to provide assessment for learning. Different mapping-based assessment strategies were adopted based on learner feedback, including in-person collaborative mapping, an individual computerized mapping-based quiz with automated feedback, and a collaborative computerized mapping-based quiz enhanced by the jigsaw strategy. Each mapping activity also leveraged the strength of a specific technology platform. Based on the findings from comparing learner ratings of these mapping activities and thematic analysis of learner feedback, we engaged in critical reflection and share our lessons learned.


A Novel, Brief, Fully Automated Intervention To Extend The Antidepressant Effect Of A Single Ketamine Infusion: A Randomized Clinical Trial, Rebecca B Price, Crystal Spotts, Benjamin Panny, Angela Griffo, Michelle Degutis, Nicolas Cruz, Elizabeth Bell, Kevin Do-Nguyen, Meredith L Wallace, Sanjay J Mathew, Robert H Howland Dec 2022

A Novel, Brief, Fully Automated Intervention To Extend The Antidepressant Effect Of A Single Ketamine Infusion: A Randomized Clinical Trial, Rebecca B Price, Crystal Spotts, Benjamin Panny, Angela Griffo, Michelle Degutis, Nicolas Cruz, Elizabeth Bell, Kevin Do-Nguyen, Meredith L Wallace, Sanjay J Mathew, Robert H Howland

Staff and Researcher Publications

Objective: Intravenous ketamine, which displays rapid antidepressant properties, is posited to reverse depression by rapidly enhancing neuroplasticity. The authors tested whether an automated, computer-based approach could efficiently leverage enhanced neuroplasticity to extend the durability of rapid clinical response.

Methods: A total of 154 adults (ages 18-60) with treatment-resistant unipolar depression were randomized in a double-blind, parallel-arm design to receive an active/active treatment combination (ketamine plus active "automated self-association training" [ASAT]; N=53) or one of two control arms that lacked either the active drug component (saline plus active ASAT; N=51) or the active behavioral component (ketamine plus sham ASAT; N=50). One …


Tceal1 Loss-Of-Function Results In An X-Linked Dominant Neurodevelopmental Syndrome And Drives The Neurological Disease Trait In Xq222 Deletions, Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R H Van Jaarsveld, A M A Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M Fatih, Dana Marafi, Jill A Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A Gibbs, Grace M Hobson, Jill V Hunter, Claudia M B Carvalho, Jennifer E Posey, Elena V Semina, James R Lupski Dec 2022

Tceal1 Loss-Of-Function Results In An X-Linked Dominant Neurodevelopmental Syndrome And Drives The Neurological Disease Trait In Xq222 Deletions, Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R H Van Jaarsveld, A M A Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M Fatih, Dana Marafi, Jill A Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A Gibbs, Grace M Hobson, Jill V Hunter, Claudia M B Carvalho, Jennifer E Posey, Elena V Semina, James R Lupski

Faculty, Staff and Student Publications

An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 genes (BEX3, RAB40A, TCEAL4, TCEAL3, TCEAL1, and MORF4L2) associate with an early-onset neurological disease trait (EONDT) consisting of hypotonia, intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. None of the genes within the SRO have been associated with monogenic disease in OMIM. Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seven de novo variants involving …


Multicenter Randomized Clinical Trial Of A Mailed Outreach Strategy For Hepatocellular Carcinoma Surveillance, Amit G Singal, Sarah Reddy, Himani Radadiya Aka Patel, Deyaun Villarreal, Aisha Khan, Yan Liu, Vanessa Cerda, Nicole E Rich, Caitlin C Murphy, Jasmin A Tiro, Jennifer R Kramer, Ruben Hernaez Dec 2022

Multicenter Randomized Clinical Trial Of A Mailed Outreach Strategy For Hepatocellular Carcinoma Surveillance, Amit G Singal, Sarah Reddy, Himani Radadiya Aka Patel, Deyaun Villarreal, Aisha Khan, Yan Liu, Vanessa Cerda, Nicole E Rich, Caitlin C Murphy, Jasmin A Tiro, Jennifer R Kramer, Ruben Hernaez

Faculty, Staff and Students Publications

BACKGROUND: The effectiveness of hepatocellular carcinoma (HCC) surveillance is mitigated by underuse in clinical practice, highlighting a need for interventions. We evaluated the effectiveness of mailed HCC surveillance outreach to promote HCC surveillance in patients with cirrhosis.

METHODS: We conducted a multicenter pragmatic randomized clinical trial comparing mailed outreach for surveillance ultrasound (n = 1436) and usual care with visit-based surveillance (n = 1436) among patients with cirrhosis at 3 health systems (tertiary care referral center, safety net health system, and Veterans Affairs medical center) from April 2018 to December 2019. The primary outcome of this interim analysis was guideline …


Early Systemic Glycolytic Shift After Aneurysmal Subarachnoid Hemorrhage Is Associated With Functional Outcomes, Aaron M Gusdon, Chenlian Fu, Vasanta Putluri, Atzhiry S Paz, Hua Chen, Xuefang Ren, Mohammed Khurshidul Hassan, Pramod Dash, Cristian Coarfa, Nagireddy Putluri, Huimahn A Choi, Jude P J Savarraj Dec 2022

Early Systemic Glycolytic Shift After Aneurysmal Subarachnoid Hemorrhage Is Associated With Functional Outcomes, Aaron M Gusdon, Chenlian Fu, Vasanta Putluri, Atzhiry S Paz, Hua Chen, Xuefang Ren, Mohammed Khurshidul Hassan, Pramod Dash, Cristian Coarfa, Nagireddy Putluri, Huimahn A Choi, Jude P J Savarraj

Faculty, Staff and Student Publications

BACKGROUND: Aneurysmal subarachnoid hemorrhage (aSAH) leads to a robust systemic inflammatory response. We hypothesized that an early systemic glycolytic shift occurs after aSAH, resulting in a unique metabolic signature and affecting systemic inflammation.

METHODS: Control patients and patients with aSAH were analyzed. Samples from patients with aSAH were collected within 24 h of aneurysmal rupture. Mass spectrometry-based metabolomics was performed to assess relative abundance of 16 metabolites involved in the tricarboxylic acid cycle, glycolysis, and pentose phosphate pathway. Principal component analysis was used to segregate control patients from patients with aSAH. Dendrograms were developed to depict correlations between metabolites and …


Discovery And Systematic Characterization Of Risk Variants And Genes For Coronary Artery Disease In Over A Million Participants, Krishna G Aragam, Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N Wolford, Deepak S Atri, Elle M Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas A Marston, Frederick K Kamanu, Ida Surakka, Loreto Muñoz Venegas, Paul Sherliker, Satoshi Koyama, Kazuyoshi Ishigaki, Bjørn O Åsvold, Michael R Brown, Ben Brumpton, Paul S De Vries, Olga Giannakopoulou, Panagiota Giardoglou, Daniel F Gudbjartsson, Ulrich Güldener, Syed M Ijlal Haider, Anna Helgadottir, Maysson Ibrahim, Adnan Kastrati, Thorsten Kessler, Theodosios Kyriakou, Tomasz Konopka, Ling Li, Lijiang Ma, Thomas Meitinger, Sören Mucha, Matthias Munz, Federico Murgia, Jonas B Nielsen, Markus M Nöthen, Shichao Pang, Tobias Reinberger, Gavin Schnitzler, Damian Smedley, Gudmar Thorleifsson, Moritz Von Scheidt, Jacob C Ulirsch, Biobank Japan, Epic-Cvd, David O Arnar, Noël P Burtt, Maria C Costanzo, Jason Flannick, Kaoru Ito, Dong-Keun Jang, Yoichiro Kamatani, Amit V Khera, Issei Komuro, Iftikhar J Kullo, Luca A Lotta, Christopher P Nelson, Robert Roberts, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Thomas R Webb, Aris Baras, Johan L M Björkegren, Eric Boerwinkle, George Dedoussis, Hilma Holm, Kristian Hveem, Olle Melander, Alanna C Morrison, Marju Orho-Melander, Loukianos S Rallidis, Arno Ruusalepp, Marc S Sabatine, Kari Stefansson, Pierre Zalloua, Patrick T Ellinor, Martin Farrall, John Danesh, Christian T Ruff, Hilary K Finucane, Jemma C Hopewell, Robert Clarke, Rajat M Gupta, Jeanette Erdmann, Nilesh J Samani, Heribert Schunkert, Hugh Watkins, Cristen J Willer, Panos Deloukas, Sekar Kathiresan, Adam S Butterworth, Cardiogramplusc4d Consortium Dec 2022

Discovery And Systematic Characterization Of Risk Variants And Genes For Coronary Artery Disease In Over A Million Participants, Krishna G Aragam, Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N Wolford, Deepak S Atri, Elle M Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas A Marston, Frederick K Kamanu, Ida Surakka, Loreto Muñoz Venegas, Paul Sherliker, Satoshi Koyama, Kazuyoshi Ishigaki, Bjørn O Åsvold, Michael R Brown, Ben Brumpton, Paul S De Vries, Olga Giannakopoulou, Panagiota Giardoglou, Daniel F Gudbjartsson, Ulrich Güldener, Syed M Ijlal Haider, Anna Helgadottir, Maysson Ibrahim, Adnan Kastrati, Thorsten Kessler, Theodosios Kyriakou, Tomasz Konopka, Ling Li, Lijiang Ma, Thomas Meitinger, Sören Mucha, Matthias Munz, Federico Murgia, Jonas B Nielsen, Markus M Nöthen, Shichao Pang, Tobias Reinberger, Gavin Schnitzler, Damian Smedley, Gudmar Thorleifsson, Moritz Von Scheidt, Jacob C Ulirsch, Biobank Japan, Epic-Cvd, David O Arnar, Noël P Burtt, Maria C Costanzo, Jason Flannick, Kaoru Ito, Dong-Keun Jang, Yoichiro Kamatani, Amit V Khera, Issei Komuro, Iftikhar J Kullo, Luca A Lotta, Christopher P Nelson, Robert Roberts, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Thomas R Webb, Aris Baras, Johan L M Björkegren, Eric Boerwinkle, George Dedoussis, Hilma Holm, Kristian Hveem, Olle Melander, Alanna C Morrison, Marju Orho-Melander, Loukianos S Rallidis, Arno Ruusalepp, Marc S Sabatine, Kari Stefansson, Pierre Zalloua, Patrick T Ellinor, Martin Farrall, John Danesh, Christian T Ruff, Hilary K Finucane, Jemma C Hopewell, Robert Clarke, Rajat M Gupta, Jeanette Erdmann, Nilesh J Samani, Heribert Schunkert, Hugh Watkins, Cristen J Willer, Panos Deloukas, Sekar Kathiresan, Adam S Butterworth, Cardiogramplusc4d Consortium

Faculty, Staff and Student Publications

The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in …