Medicine and Health Sciences Commons^™

Frequency Of Variants In Mendelian Alzheimer’S Disease Genes Within The Alzheimer’S Disease Sequencing Project, Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison M Goate, Alzheimer's Disease Neuroimaging Initiative (Adni), The Alzheimer's Disease Sequencing Project, Anita L Destefano, Gina M Peloso

Faculty, Staff and Student Publications

Background:

Prior studies examined variants within presenilin-2 (PSEN2), presenilin-1 (PSEN1), and amyloid precursor protein (APP) genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer’s Disease Sequencing Project (ADSP).

Objective:

To characterize previously-reported clinically-relevant variants and DM variants in PSEN2, PSEN1, APP within the participants from the ADSP.

Methods:

We identified rare variants (MAF< 1%) in PSEN2, PSEN1, and APP in 14,641 individuals with whole genome sequencing and 16,849 individuals with whole exome sequencing available (Ntotal = 31,490). We additionally curated …

Long-Term Bone Changes At Edentulous Sites, Teerarat Neal Phuatrakoon

Master's Theses (2009 -)

BACKGROUND: Tooth loss is a debilitating occurrence that may affect the patient’s emotional and mental well-being. Delays in necessary restorative treatment may occur dependent on the patient’s finances or other elaborate dental treatment plans. Prosthetically guided implants have become the standard of care regarding definitive treatment, however there is a lack of evidence discussing the stability of edentulous sites if deferment of treatment is required. OBJECTIVE: The aim of this study is to measure long-term changes of the edentulous alveolar ridge (height and width) and anatomical structures (e.g. sinus floor, inferior alveolar canal). METHODS: Charts of patients with at least …

April 2025, Swosu Rural Health Center

RURAL ROCKS

This is the April 2025 issue of Rural Rocks from the SWOSU College of Pharmacy.

Role For Astrocytes In Complex Cognition: An Evolutionary, Behavioral And Computational Perspective, Gregory Simandl

Dissertations (1934 -)

The human brain has more computational power than modern supercomputers by utilizing only a few signaling systems, rendering it the most efficient computational device ever created. Evolution, though not prospective, has iteratively constructed neural networks of increasing complexity that have ultimately endowed humans with extraordinary cognitive abilities. Through an evolutionary lens, there is a clear correlation between organismal sophistication and network signaling complexity Astrocytes, a non-neuronal cell that makes up approximately half the cells in the human brain, show dramatic increases in morphological and signaling complexity in higher-order species. This co-evolution is likely not coincidental but rather represents the development …

The Impact Of Electronic Health Record Training: How Students Utilize The Electronic Record To Inform Clinical Judgment, Sarah Marie Calonder

Dissertations (1934 -)

Nurses practice within a complex healthcare environment and must make well-informed judgments about their patients to provide safe, quality care. The electronic health record (EHR) is a piece of healthcare and informatics technology which houses important patient information that nurses utilize frequently while making clinical judgments surrounding patient care. The importance of entry-level nurse competency with the EHR and similar healthcare and informatics tools has been outlined by the American Association of Colleges of Nursing (AACN) Essentials and other nursing organizations concerned with the preparation of future nurses (AACN 2021; QSEN, 2020). Currently, there are limited established best practices for …

Supervisees’ Responsiveness In Supervision With Doctoral Student Supervisors, Zübeyde Akpakır

Counseling & Human Services Theses & Dissertations

This study explores the factors that influence the responsiveness of master’s-level counselors-in-training (CITs) to university-based supervision with doctoral student supervisors. Supervision is an important element and the requirement of CITs' professional development (Bernard & Goodyear, 2019; CACREP, 2024), and many counselor education programs educate their doctoral student to supervise master’s-level CITs (Luke, 2019). Despite its significance, there is no empirical data on how CITs engage with feedback and guidance, particularly in supervision led by novice doctoral supervisors. The study employed an exploratory sequential mixed methods design, Q methodology (McKeown & Thomas, 2013), to analyze CITs' subjective perspectives and identify factors …

Development Of Highly Sensitive & Selective Sensor, Megha Shinde

Biomedical Engineering Theses & Dissertations

This work presents the development of innovative electrochemical sensors for selective and sensitive dopamine (DA) detection using flexible laser-induced graphene (LIG) electrodes modified with advanced nanocomposites. An LIG electrode synthesized from pyralux film was functionalized with Nb₄C₃Tx MXene and silver nanoparticles (AgNPs), significantly enhancing its electrochemical performance. The modified electrode exhibited a peak anodic current increase from 150 μA to 330.4 μA and demonstrated a wide linear detection range (100 nM to 10 μM) with a low detection limit of 1 nM and high sensitivity (160.96 μA/nM cm ^-2). It also displayed excellent selectivity against …

Navigating Recovery: Community College Student Journeys Through Collegiate Recovery Programs, Eric Scott Klein

Educational Leadership & Workforce Development Theses & Dissertations

There is an inherent regional need to support students in recovery, and often their demographics and lived experiences coincide with the student body of a community college. This is particularly salient to the segments of this population which concurrently suffer maltreatment due to other intersectional biases implicit in many health care and education-based systems inside the United States (Cole, 2009; Mance et al., 2010; Rosenthal, 2016). Community colleges are not doing enough to equitably support students in recovery from substance use disorder (SUD) and help buoy their recovery capital (Appiah, 2021; Ashford, Curtis, et al., 2018; Association of Recovery in …

The Impacts Of Physical (In)Activity On Endothelial Function, Joel Ernest Harden

Rehabilitation Sciences Theses & Dissertations

Exercise and physical activity are known to have beneficial effects on endothelial function and vascular health. Sedentary behavior and physical inactivity, however, have been shown to be related to poor endothelial function and vascular health. The overall purpose of this dissertation was to further elucidate the physiological links between physical (in)activity and vascular health. In the first study, 12 active, young (18-40 yr) individuals and 12 active, old (55+ yr) individuals were recruited. Participants underwent 5 days of removal of exercise, and had their endothelial function assessed via flow-mediated dilation (FMD) during their normal, habitual exercise state (EX) and during …

Nanosecond Pulsed Electric Field And Plasma Jets For Cancer Therapy, Edwin Ayobami Oshin

Biomedical Engineering Theses & Dissertations

Nanosecond pulsed electric field (nsPEF) employs nanosecond-duration, high voltage pulses to induce oxidative stress, leading to temporary or permanent damage to cells or tissue (also known as reversible and irreversible electroporation), and has been considered a promising approach for cancer therapy. In parallel to this, nanosecond pulsed atmospheric pressure plasma jets (ns-APPJs) have also shown to be effective in inactivating cancer cells or increasing sensitivity of cells to electric fields. ns-APPJs are known to generate reactive chemical agents, including reactive oxygen and nitrogen species (RONS) which induces oxidative stress resulting in cell proliferation, apoptosis, and necrosis. In this dissertation, a …

Correction To: Active Versus Passive Learning In Large-Group Sessions In Medical School: A Randomized Cross-Over Trial Investigating Effects On Learning And The Feeling Of Learning, Peter Boedeker, Tobias Schlingmann, Joshua Kailin, Ajith Nair, Cara Foldes, David Rowley, Katherine Salciccioli, Ronald Maag, Nancy Moreno, Nadia Ismail

Faculty, Staff and Students Publications

This corrects the article "Active Versus Passive Learning in Large-Group Sessions in Medical School: A Randomized Cross-Over Trial Investigating Effects on Learning and the Feeling of Learning" on page 459.

Adverse Drug Events In Ambulatory Care: A Cross-Sectional Study, Joseph M Plasek, Mary G Amato, Abigail Salem, Dinah Foer, Stuart Lipsitz, Gretchen Purcell Jackson, David W Bates, Li Zhou

Faculty, Staff and Students Publications

Background: Adverse drug events (ADEs) are understudied in the ambulatory care setting. We aim to estimate the prevalence and characteristics of ADEs in outpatient care using electronic health records (EHRs).

Methods: This cross-sectional study included EHR data for patients who had an outpatient encounter at an academic medical center from 1 October 2018 through 31 December 2019. We developed a stratified sampling strategy based on a comprehensive set of 994 ADE-related International Classification of Disease (ICD-10) codes to identify clinical encounters and notes likely to contain ADEs. Within each ICD-10 likelihood group, clinical notes were randomly sampled and annotated for …

The Recent Trend Of Twin Epidemic In The United States: A 10-Year Longitudinal Cohort Study Of Co-Prescriptions Of Opioids And Stimulants, Seungyeon Lee, Wenyu Song, David W Bates, Richard D Urman, Ping Zhang

Faculty, Staff and Students Publications

Background: In recent years, the use of central nervous system stimulant medications has increased among the population already using opioids, referred to as a "twin epidemic." There is an increasing concern about its harmful outcomes in large populations. However, very few studies examined the co-prescription pattern of these two drug categories over a long period, and there is currently no clear restriction on stimulant prescriptions among patients under opioid treatment in the United States. The objectives of our study were to identify opioid prescription dosage time-dependent patterns and patient subgroups representing distinct trajectories on a national level in the recent …

Anaplastic Meningioma In A 6-Year-Old With Somatic Yap1::Maml2 Fusion And Multiple Endocrine Neoplasia Type 4 (Men4) Syndrome, Lauren R Desrosiers-Battu, John H Lee, Izabela Tarasiewicz, Andrea R Gilbert, Eva M Galvan, Achint K Singh, Angshumoy Roy, George Miles, Jacquelyn Reuther, Donna M Muzny, Bo Yuan, Shashikant Kulkarni, Christine Eng, Sarah Scollon, Shawn Gessay, Amy L Mcguire, D Williams Parsons, Gail E Tomlinson, Sharon E Plon, Shafqat Shah

Faculty, Staff and Students Publications

Meningiomas are the most common primary brain tumors in adults but much less frequent in children. Many subtypes exist, including anaplastic (malignant) meningioma, which accounts for less than 20% of pediatric tumors. Meningiomas can arise in association with cancer predisposition syndromes due to germline variants in genes such as NF2, MEN1 and SMARCE1. This report describes a 6-year-old boy diagnosed with anaplastic meningioma who was treated with surgery and focal radiation therapy. The family consented to participate in the Texas KidsCanSeq clinical genomics study. Analysis of germline and tumor samples detected a single germline finding of a CDKN1B pathogenic frameshift …

Endogenous Dna Damage At Sites Of Terminated Transcripts, Jingjing Liu, Jullian O Perren, Cody M Rogers, Sadeieh Nimer, Alice X Wen, Jennifer A Halliday, Devon M Fitzgerald, Qian Mei, Ralf B Nehring, Mary Crum, Stanislav G Kozmin, Jun Xia, Matthew B Cooke, Yin Zhai, David Bates, Lei Li, P J Hastings, Irina Artsimovitch, Christophe Herman, Patrick M Sung, Kyle M Miller, Susan M Rosenberg

Faculty, Staff and Students Publications

DNA damage promotes mutations that fuel cancer, aging, and neurodegenerative diseases1–3, but surprisingly, the causes and types of damage remain largely unknown. There are three identified mechanisms that damage DNA during transcription: RNA polymerase (RNAP) colliding with DNA-replication machinery head-on and co-directionally4–6, and R-loop-induced DNA breakage7–10. Here, we identify DNA-damage reaction intermediates11,12 uncharacterized previously in living cells, and uncover a surprising fourth transcription-related source: endogenous DNA damage at sites of terminated transcripts. We engineered proteins to capture single-stranded (ss)DNA ends with 3'-polarity, in both bacterial …

Dysregulation Of Mirna Expression And Excitation In Mef2c Autism Patient Hipsc-Neurons And Cerebral Organoids, Dorit Trudler, Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Melissa Luevanos, Sergio Labra, Titas Grabauskas, Sarah Moore Noveral, Mayu Teranaka, Emily Schahrer, Nima Dolatabadi, Clare Bakker, Kevin Lopez, Abdullah Sultan, Parth Patel, Agnes Chan, Yongwook Choi, Riki Kawaguchi, Pawel Stankiewicz, Ivan Garcia-Bassets, Piotr Kozbial, Michael G Rosenfeld, Nobuki Nakanishi, Daniel H Geschwind, Shing Fai Chan, Wei Lin, Nicholas J Schork, Rajesh Ambasudhan, Stuart A Lipton

Faculty, Staff and Students Publications

MEF2C is a critical transcription factor in neurodevelopment, whose loss-of-function mutation in humans results in MEF2C haploinsufficiency syndrome (MHS), a severe form of autism spectrum disorder (ASD)/intellectual disability (ID). Despite prior animal studies of MEF2C heterozygosity to mimic MHS, MHS-specific mutations have not been investigated previously, particularly in a human context as hiPSCs afford. Here, for the first time, we use patient hiPSC-derived cerebrocortical neurons and cerebral organoids to characterize MHS deficits. Unexpectedly, we found that decreased neurogenesis was accompanied by activation of a micro-(mi)RNA-mediated gliogenesis pathway. We also demonstrate network-level hyperexcitability in MHS neurons, as evidenced by excessive synaptic …

Atrial Cardiomyocyte-Restricted Cleavage Of Gasdermin D Promotes Atrial Arrhythmogenesis, Yue Yuan, Pascal Martsch, Xiaohui Chen, Enrique Martinez, Luge Li, Jia Song, Theresa Poppenborg, Florian Bruns, Jong Hwan Kim, Markus Kamler, James F Martin, Issam Abu-Taha, Dobromir Dobrev, Na Li

Faculty, Staff and Students Publications

Background and aims: Enhanced inflammatory signalling causally contributes to atrial fibrillation (AF) development. Gasdermin D (GSDMD) is an important downstream effector of several inflammasome pathways. However, the role of GSDMD, particularly the cleaved N-terminal (NT)-GSDMD, in non-immune cells remains elusive. This study aimed to elucidate the function of NT-GSDMD in atrial cardiomyocytes (ACMs) and determine its contribution to atrial arrhythmogenesis.

Methods: Human atrial appendages were used to assess the protein levels and localization. A modified adeno-associated virus 9 was employed to establish ACM-restricted overexpression of NT-GSDMD in mice.

Results: The cleavage of GSDMD was enhanced in ACMs of AF patients. …

Who And Its Enduring Commitment To Global Pediatrics, Peter J Hotez

Faculty, Staff and Students Publications

No abstract provided.

Ethics Of Learning Surgical Autonomy In Safety-Net Hospital Systems With Patients Who Are Incarcerated, Kala T Pham, Rachel W Davis

Faculty, Staff and Students Publications

Safety-net hospitals care for patients who are incarcerated and are key environments in which surgical trainees learn to wield their professional autonomy. This article explores ethical questions raised by surgical trainees' participation in carceral care and canvasses possible responses to those questions.

Klf4 Enhances Transplantation-Induced Hematopoiesis By Inhibiting Tlrs And Noncanonical Nfκb Signaling At A Steady State, Chun Shik Park, Cory S Bridges, Andrew H Lewis, Taylor J Chen, Saptarsi Shai, Wa Du, Monica Puppi, Barry Zorman, Sumazin Pavel, H Daniel Lacorazza

Faculty, Staff and Students Publications

The transcription factor Krüppel-like factor 4 (KLF4) acts as a transcriptional activator and repressor. KLF4 plays a role in various cellular processes, including the dedifferentiation of somatic cells into induced pluripotent stem cells. Although it has been shown to enhance self-renewal in embryonic and leukemia stem cells, its role in adult hematopoietic stem cells (HSCs) remains underexplored. We demonstrate that conditional deletion of the Klf4 gene in hematopoietic cells led to an increased frequency of immunophenotypic HSCs in the bone marrow, along with a normal distribution of lymphoid and myeloid progenitor cells. Noncompetitive bone marrow transplants showed normal engraftment and …

Intestinal Epithelial Serotonin As A Novel Target For Treating Disorders Of Gut-Brain Interaction And Mood, Lin Y Hung, Nuno D Alves, Andrew Del Colle, Ardesheer Talati, Sarah A Najjar, Virginie Bouchard, Virginie Gillet, Yan Tong, Zixing Huang, Kirsteen N Browning, Jialiang Hua, Ying Liu, James O Woodruff, Daniel Juarez, Melissa Medina, Jonathan Posner, Raquel Tonello, Nazli Yalcinkaya, Narek Israelyan, Roey Ringel, Letao Yang, Kam W Leong, Mu Yang, Ji Ying Sze, Tor Savidge, Jay Gingrich, Robert J Shulman, Michael D Gershon, Annie Ouellet, Larissa Takser, Mark S Ansorge, Kara Gross Margolis

Faculty, Staff and Students Publications

Background & aims: Mood disorders and disorders of gut-brain interaction (DGBI) are highly prevalent, commonly comorbid, and lack fully effective therapies. Although selective serotonin reuptake inhibitors (SSRIs) are first-line pharmacological treatments for these disorders, they may impart adverse effects, including anxiety, anhedonia, dysmotility, and, in children exposed in utero, an increased risk of cognitive, mood, and gastrointestinal disorders. SSRIs act systemically to block the serotonin reuptake transporter and enhance serotonergic signaling in the brain, intestinal epithelium, and enteric neurons. Yet, the compartments that mediate the therapeutic and adverse effects of SSRIs are unknown, as is whether gestational SSRI exposure directly …

Recent Advances In The Management Of Pediatric Cholestatic Liver Diseases, Krupa R Mysore, Katherine Cheng, Lakshmi Anandini Suri, Rima Fawaz, Alisha M Mavis, Debora Kogan-Liberman, Saeed Mohammad, Sarah A Taylor

Faculty, Staff and Students Publications

Pediatric cholestatic liver diseases are rare conditions that can result from multiple specific underlying etiologies. Among the most common etiologies of pediatric cholestatic liver diseases are biliary atresia, Alagille syndrome (ALGS), and inherited disorders of bile acid transport. These diseases are characterized by episodic or chronic unremitting cholestasis. Due to the chronicity of these conditions, it is imperative to optimize medical management to improve patient quality of life, provide nutritional support, and reduce bile acid toxicity in efforts to slow disease progression. Cholestatic liver diseases remain the leading cause of pediatric liver transplantation, as many underlying disease etiologies have no …

Subacute Neuropathy Post-Liver Transplantation In Zellweger Spectrum Disorder: A Case Report, Clarissa Gonzalez, Madelyn J Cohen, Juhee Hong, Daniel Calame, Kavitha Marri, Sanjiv Harpavat, Michael F Wangler, Krupa Mysore

Faculty, Staff and Students Publications

Peroxisome biogenesis disorders-Zellweger spectrum disorder (PBD-ZSD) is a rare genetic disease caused by mutations in the genes involved in peroxisome biogenesis. PBD-ZSD presentations vary in severity, and treatment of PBD-ZSD remains supportive focused on specific complications. A few reported cases of the use of liver transplantation to treat either neurological symptoms or liver dysfunction and cirrhosis in PBD-ZSD have been published. In this case report, we document the course of a 16-year-old boy diagnosed with PBD-ZSD and a delayed and unexpected neuropathy that developed after undergoing orthotopic liver transplantation (OLT) for which the indication was liver cirrhosis. Following OLT, the …

Significant Increase Of Firework Induced Eye Injuries In Germany And The Netherlands- Are We Doing Enough To Protect Minors And Bystanders?, Ameli Gabel-Pfisterer, Stefan Johann Lang, Daniel Boehringer, Hansjürgen Agostini, Lotte C De Geus, Jan Tjeerd De Faber

Faculty, Staff and Students Publications

Background: After 2 years of pandemic sales ban, on New Year`s Eve 2022/23 consumer firework articles were officially available again in Germany and the Netherlands.

Methods: In the Netherlands we prospectively and anonymously collected data on patients treated for firework induced eye injuries from 2009 on, in Germany since 2016.

Results: Around New Year ́s Eve 2022/23 the number of patients with firework inflicted eye injuries increased in the Netherlands to 133 and in Germany to 838. In both countries the participation of eye departments was 90%. The incidence of firework induced eye injuries in the Netherlands was 0,8 /100 …

Functional Connectomics Spanning Multiple Areas Of Mouse Visual Cortex, The Microns Consortium

Faculty, Staff and Students Publications

Understanding the brain requires understanding neurons' functional responses to the circuit architecture shaping them. Here we introduce the MICrONS functional connectomics dataset with dense calcium imaging of around 75,000 neurons in primary visual cortex (VISp) and higher visual areas (VISrl, VISal and VISlm) in an awake mouse that is viewing natural and synthetic stimuli. These data are co-registered with an electron microscopy reconstruction containing more than 200,000 cells and 0.5 billion synapses. Proofreading of a subset of neurons yielded reconstructions that include complete dendritic trees as well the local and inter-areal axonal projections that map up to thousands of cell-to-cell …

Optimal Restoration Of Spermatogenesis After Testosterone Therapy Using Human Chorionic Gonadotropin And Follicle-Stimulating Hormone, Blair T Stocks, Amelia G Oppenheimer, Kevin J Campbell, John P Lindsey, Taylor P Kohn, Juliet M Alexander, Jason B Huang, Larry I Lipshultz

Faculty, Staff and Students Publications

Objective: To study improvements in spermatogenesis in men with a history of testosterone therapy using a novel fertility treatment regimen.

Design: A single-center retrospective cohort analysis.

Subjects: Seventy-seven men with previous testosterone use seeking fertility treatment from January 2020 to March 2024.

Exposure: A treatment regimen of 3,000 IU of human chorionic gonadotropin (hCG) and 75 IU of follicle-stimulating hormone (FSH) three times a week was used.

Main outcome measures: The primary outcome measured was change in sperm concentration during hCG/FSH therapy. The secondary outcome measured was whether concurrent testosterone therapy during hCG/FSH therapy affected recovery of spermatogenesis.

Results: Within …

Clinical And Genetic Delineation Of Autosomal Recessive And Dominant Actl6b-Related Developmental Brain Disorders, Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Dana Marafi, Maha S Zaki, Mohnish Suri, Roberto Dominguez, Hasnaa M Elbendary, Shahryar Alavi, Mohamed S Abdel-Hamid, Heba Morsy, Frederic Tran Mau-Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal W Saadi, Zahra Firoozfar, Pinar Gencpinar, Bulent Unay, Canan Ustun, Ange-Line Bruel, Christine Coubes, Jennifer Stefanich, Ozlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Rashidi-Nezhad, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole L Bertsch, Grace J Noh, John Pappas, Ellen Moran, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E L M Vissers, Maedeh Neshatdoust, Mostafa Montazer Zohour, Elmostafa El Fahime, Christina Canavati, Lara Kamal, Moien Kanaan, Omar Askander, Victoria Voinova, Olga Levchenko, Shahzhad Haider, Sara S Halbach, Rayana Elias Maia, Salehi Mansoor, Vivek Jain, Sanjukta Tawde, Viveka Santhosh R Challa, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Elawady, Adelia Maria De Miranda Henriques-Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor-Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, Joao Paulo Kitajima, Fabiola Monteiro, Juliana Josahkian, Gaetan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L Neul, Sureni V Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Lee Hane, Elsayed Abdelkreem, Milan Macek, Luciana Bispo, Marwa Abd Elmaksoud, Farzad Hashemi-Gorji, Davut Pehlivan, David J Amor, Rami Abou Jamra, Wendy K Chung, Eshan Ghayoor Karimiani, Philippe M Campeau, Fowzan S Alkuraya, Alistair T Pagnamenta, Joseph G Gleeson, James R Lupski, Pasquale Striano, Andres Moreno-De-Luca, Denis L J Lafontaine, Henry Houlden, Reza Maroofian

Faculty, Staff and Students Publications

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.

Results: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, …

Playbook Workflow Builder: Interactive Construction Of Bioinformatics Workflows, Daniel J B Clarke, John Erol Evangelista, Zhuorui Xie, Giacomo B Marino, Anna I Byrd, Mano R Maurya, Sumana Srinivasan, Keyang Yu, Varduhi Petrosyan, Matthew E Roth, Miroslav Milinkov, Charles Hadley King, Jeet Kiran Vora, Jonathon Keeney, Christopher Nemarich, William Khan, Alexander Lachmann, Nasheath Ahmed, Alexandra Agris, Juncheng Pan, Srinivasan Ramachandran, Eoin Fahy, Emmanuel Esquivel, Aleksandar Mihajlovic, Bosko Jevtic, Vuk Milinovic, Sean Kim, Patrick Mcneely, Tianyi Wang, Eric Wenger, Miguel A Brown, Alexander Sickler, Yuankun Zhu, Sherry L Jenkins, Philip D Blood, Deanne M Taylor, Adam C Resnick, Raja Mazumder, Aleksandar Milosavljevic, Shankar Subramaniam, Avi Ma'ayan

Faculty, Staff and Students Publications

The Playbook Workflow Builder (PWB) is a web-based platform to dynamically construct and execute bioinformatics workflows by utilizing a growing network of input datasets, semantically annotated API endpoints, and data visualization tools contributed by an ecosystem of collaborators. Via a user-friendly user interface, workflows can be constructed from contributed building-blocks without technical expertise. The output of each step of the workflow is added into reports containing textual descriptions, figures, tables, and references. To construct workflows, users can click on cards that represent each step in a workflow, or construct workflows via a chat interface that is assisted by a large …

Time Tracking And Comparison Of Genetic Counseling Tasks In Inpatient And Outpatient Settings, Alexandra Osborne, Emily Magness Bland, Callie Diamonstein, Kristen Fishler

Faculty, Staff and Students Publications

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing …

Moderate Alcohol-Associated Hepatitis: A Real-World Multicenter Study, Francisco Idalsoaga, Luis Antonio Díaz, Winston Dunn, Heer Mehta, Karen Muñoz, Vicente Caldentey, Jorge Arnold, Gustavo Ayares, Rokhsana Mortuza, Shiv K Sarin, Rakhi Maiwall, Wei Zhang, Steve Qian, Douglas Simonetto, Ashwani K Singal, Mohamed A Elfeki, Carolina Ramirez-Cadiz, Gurpreet Malhi, Adan Ahmed, Hoomam Homsi, Zinia Abid, Joaquín Cabezas, Victor Echavarría, Maria Poca, German Soriano, Berta Cuyas, Meritxell Ventura Cots, María Fátima Higuera-De La Tijera, Maria Ayala-Valverde, Diego Perez, Jaime Gomez, Juan G Abraldes, Mustafa Al-Karaghouli, Prasun K Jalal, Mohamad Ali Ibrahim, Guadalupe García-Tsao, Daniela Goyes, Lubomir Skladaný, Daniel J Havaj, Karolina Sulejova, Svetlana Adamcova Selcanova, Diego Rincón, Kristina R Chacko, Juan C Restrepo, Pamela Yaquich, Luis G Toro, Vijay Shah, Marco Arrese, Patrick S Kamath, Ramon Bataller, Juan Pablo Arab

Faculty, Staff and Students Publications

Background: Severe alcohol-associated hepatitis (sAH) is a well-characterized disease with high short-term mortality. However, there is limited research on those with a "less severe condition" (moderate AH). This study aims to characterize in-depth patients with moderate AH (mAH), including the performance of mortality scoring systems, key prognostic factors, and survival over time.

Methods: A multicenter retrospective cohort study (2009-2019) included patients with mAH (MELD score ≤20 at admission). Cox regression and receiver operating characteristic curves with AUC were used for analysis.

Results: We included 1845 patients with AH (20 centers, 8 countries) between 2009 and 2019. mAH was defined as …