Digital Commons Network^™

Predicting & Analyzing University Success: Machine Learning Approaches To Predict Performance From Socioeconomic And Educational Data, Ali Alrais

Theses

Accurately predicting learner performance is a significant challenge in education since diverse and interrelated factors contribute to academic success. High school grades and standardized test scores remain the primary indicators used for university admissions. However, such approaches fail to capture the complexities surrounding student learning. For instance, various cognitive, cultural, socioeconomic, and environmental influences shape academic outcomes. Educators need to adopt more comprehensive predictive models that consider in-depth learner differences. Reliable academic performance prediction can help schools optimize admissions decisions, allocate resources effectively, and implement targeted interventions to support at-risk students. This study adopted a quantitative primary research approach with …

Investigating Spectral Rendering Techniques To Improve Colour Matching In Virtual Production, Vlad Simion

Theses

As rendering engines become increasingly important in film and television, with their use in virtual production (VP) to display rendered imagery, some underlying issues become more apparent. This thesis aims to investigate how we can improve asset color matching of VP elements with real-life objects found on sets. Experiments were conducted in which objects were exposed to various types of lighting setups, and digital twins were rendered using traditional computer graphics techniques. The renderings occurred in both classic RGB spaces and the spectral domain. Additionally, data reduction techniques were used for the spectral renderings to determine if any of them …

Identifying Underspecifications In Security Requirements Using A Formal Reasoning Approach, Viktoria Koscinski

Theses

Within requirements engineering, software requirements specifications tend to prioritize functional needs, potentially failing to capture critical security aspects and adequate security requirements. Security requirements engineering is a manual and error-prone activity often neglected due to the knowledge gap between cybersecurity professionals and software requirements engineers. Consequently, security requirements are especially prone to being underspecified, a condition where they lack a complete set of feature-values and are thus open to multiple interpretations. Underspecified security requirements can lead to incorrect assumptions and missing security properties, often remaining undiscovered until system deployment, thereby leaving the system vulnerable to exploitation. Furthermore, even individually well-written …

Facial Color Matching In Optical See-Through Augmented Reality, Yanmei He

Theses

Augmented reality (AR) aims to combine elements of the surrounding environment with additional virtual content into a combined viewing scene. Displaying virtual human faces is a widespread practical application of AR technology, which can be challenging in optical see- through AR (OST-AR), due to limitations in its color reproduction. Specifically, OST-AR’s additive optical blending introduces transparency and color-bleeding, which is exacerbated especially for faces having darker skin tones, and for brighter and more chromatic ambient environments. Given the increasing prevalence of social AR applications, it is essential to better understand how facial color reproduction is impacted by skin tone and …

Cutting Through Stigma: Suggested Best Practices For Aharm Reduction Approach To Nonsuicidal Self-Injury, Lindsay Lundeen, Erin Kern Popejoy

Counseling, Leadership, and Research Methods Faculty Publications and Presentations

For many counselors, both topics of nonsuicidal self-injury (NSSI) and harm reduction practices can feel intimidating and unclear. Yet, depending on the client, discussion of complete and immediate cessation from NSSI can feel impossible and isolating. This article combines harm reduction principles, a concept initially developed for addiction treatment, with select existing recommendations for NSSI treatment to offer a clinician's guide to best practices for harm reduction implementation with clients engaging in NSSI. By meeting clients where they are and offering a supportive space to brainstorm nontraditional treatment options, counselors can maintain the core principles of the American Counseling Association's …

Increasing Birth-Dose Hepatitis B Vaccination In Nigeria: Qualitative Analysis Of Data From A Crowdsourcing Open Call, Sonam J Shah, Maria Afadapa, Nkiruka Obodoechina, Olufunto A Olusanya, Temitope Ojo, Dawit Alemu, Juliet Iwelunmor, Et Al.

2020-Current year OA Pubs

BACKGROUND: Despite World Health Organization and Nigerian recommendations for hepatitis B birth-dose (HepB-BD) vaccination, only one-third of Nigerian newborns receive timely HepB-BD vaccination, This study identified facilitators to increasing HepB-BD vaccination based on data from a crowdsourcing open call in Nigeria.

METHODS: Our team conducted an open call across Nigeria for teams to submit ideas on how to increase HepB-BD vaccination. Independent judges evaluated the submissions based on predefined criteria. We analyzed textual data from the top 29 entries using iterative coding and thematic analysis within a socioecological model to identify priority facilitators.

RESULTS: The open call received 362 total …

Explainable Use Of Foundation Models For Job Hiring, Vishnu S. Pendyala, Neha Bais Thakur, Radhika Agarwal

Faculty Research, Scholarly, and Creative Activity

Automating candidate shortlisting is a non-trivial task that stands to benefit substantially from advances in artificial intelligence. We evaluate a suite of foundation models such as Llama 2, Llama 3, Mixtral, Gemma-2b, Gemma-7b, Phi-3 Small, Phi-3 Mini, Zephyr, and Mistral-7b for their ability to predict hiring outcomes in both zero-shot and few-shot settings. Using only features extracted from applicants’ submissions, these models, on average, achieved an AUC above 0.5 in zero-shot settings. Providing a few examples similar to the job applicants based on a nearest neighbor search improved the prediction rate marginally, indicating that the models perform competently even without …

A Simple Model Of Spiral Galaxies From Geometric Optics, Bogdan Szafraniec, James N. Blake

Faculty Research, Scholarly, and Creative Activity

We propose a simple model of spiral galaxies based on the interference of gravitational waves. The interference is deduced from geometric optics analysis of the refractive index profiles that mimic the behavior of gravitational potentials −1/r and r². We analyze the refractive index profiles, n(r)² = a + b/r and n(r)² = a + br², because they are realistically shaped and yield closed form solutions. The two profiles yield similar physical results, showing that the physical interpretation is not dependent on the exact details of the profile. The first profile yields trajectories that can …

Evaluating The Predictive Value Of Basc-3 Anxiety Scale And Working Memory Index Scores For Clinically Significant Test Anxiety: A Comprehensive Analysis Of Non-Classifiable Cases, Des'tiana S. Williams

Electronic Theses and Dissertations

This dissertation will explore how test anxiety (TA) affects working memory (WM) and whether certain factors can help predict higher levels of test anxiety. Anxiety has been defined as a common experience that can show up in various forms—like general worry, social fears, panic attacks, and specific phobias (APA, 2022). It was described as often triggering our natural “fight-or-flight” response, which can impact our ability to focus, think clearly, and remember things. For students, test anxiety has been especially challenging, affecting how they perform in high-stakes academic settings. Using data from a university based psychological assessment center, this study will …

Evaluating The Predictive Value Of Basc-3 Anxiety Scale And Working Memory Index Scores For Clinically Significant Test Anxiety: A Comprehensive Analysis Of Non-Classifiable Cases, Des'tiana S. Williams

Electronic Theses and Dissertations

This dissertation will explore how test anxiety (TA) affects working memory (WM) and whether certain factors can help predict higher levels of test anxiety. Anxiety has been defined as a common experience that can show up in various forms—like general worry, social fears, panic attacks, and specific phobias (APA, 2022). It was described as often triggering our natural “fight-or-flight” response, which can impact our ability to focus, think clearly, and remember things. For students, test anxiety has been especially challenging, affecting how they perform in high-stakes academic settings. Using data from a university based psychological assessment center, this study will …

Psychology And Dispute Resolution: Looking Forward, Jennifer K. Robbennolt

Journal of Dispute Resolution

There is a long and deep history of interconnection between dispute resolution and psychology. Concepts like procedural justice permeate the literature. Psychologists have investigated and provided data about phenomena such as the fixed pie bias, impasse aversion, and reactive devaluation. Research drawing on the psychology of heuristics and biases has been influential, particularly in work on settlement decision making. Studies in this tradition have explored how framing, anchoring, anticipated regret, and different ways of considering options can influence the decisions made by disputants. Psychologists have explored the role of apologies in dispute resolution, the role of emotion in negotiation, and …

“America’S Peacemaker” Needs A Makeover: The Department Of Justice’S Community Relations Service Should Use Transformative Mediation And Restorative Justice In Today’S Black Lives Matter Movement, Julianna Leung

Journal of Dispute Resolution

On March 7, 1965, civil rights leaders John Lewis and Hosea Williams led hundreds of people across the Edmund Pettus Bridge in Selma, Alabama. Their goal was to march to the state capitol of Montgomery in protest of racial segregation and the suppression of African American voters. On the other side of Pettus bridge, state troopers and spectators waving Confederate flags waited for them. When the protesters reached the end of Pettus, state trooper Major John Cloud ordered them to stop the march and leave. Williams tried to speak with Major Cloud, but Major Cloud rebuffed him. When the protestors …

Volunteered Or Voluntold: Effectiveness Of Good Faith Clauses On Court-Ordered Mediation, J. Michael Moore

Journal of Dispute Resolution

Mediation is the “process in which a mediator facilitates communication and negotiation between parties to assist them in reaching a voluntary agreement regarding their dispute.” There is a growing trend in many states and the federal government to allow courts to refer parties to mediation or other forms of alternative dispute resolution (“ADR”). However, one of the distinguishing elements of a mediation is that the parties come to a voluntary agreement. If the court has forced the parties to mediate, does that negate the voluntary nature of mediation? The answer to this question appears to be yes, but the real …

Reduction Of Neuronal Activity Mediated By Blood-Vessel Regression In The Adult Brain, Xiaofei Gao, Xing-Jun Chen, Meng Ye, Jun-Liszt Li, Nannan Lu, Di Yao, Bo Ci, Fei Chen, Lijun Zheng, Yating Yi, Shiwen Zhang, Zhanying Bi, Xinwei Gao, Yuanlei Yue, Tingbo Li, Jiafu Lin, Ying-Chao Shi, Kaibin Shi, Nicholas E Propson, Yubin Huang, Katherine Poinsatte, Zhaohuan Zhang, Dale B Bosco, Shi-Bing Yang, Ralf H Adams, Volkhard Lindner, Fen Huang, Long-Jun Wu, Hui Zheng, Simon Hippenmeyer, Ann M Stowe, Bo Peng, Marta Margeta, Qingchun Guo, Xiaoqun Wang, Qiang Liu, Jakob Körbelin, Martin Trepel, Hui Lu, Guoen Cai, Bo O Zhou, Bo Shen, Ying-Mei Lu, Wenzhi Sun, Jie-Min Jia, Feng Han, Hu Zhao, Robert M Bachoo, Woo-Ping Ge

Center on Aging Staff Publications

The brain vasculature supplies neurons with glucose and oxygen, but little is known about how vascular plasticity contributes to brain function. Using longitudinal in vivo imaging, we report that a substantial proportion of blood vessels in the adult mouse brain sporadically occlude and regress. Their regression proceeds through sequential stages of blood-flow occlusion, endothelial cell collapse, relocation or loss of pericytes, and retraction of glial endfeet. Regressing vessels are found to be widespread in mouse, monkey and human brains. We further reveal that blood vessel regression cause a reduction of neuronal activity due to a dysfunction in mitochondrial metabolism and …

Expanding And Mainstreaming Sociohydrology Toward Transdisciplinary Praxis, Shinichiro Nakamura, Heidi Kreibich, Melissa Haeffner, Jenia Mukherjee, Giuliano Di Baldassarre, Maiko Sakamoto, Mikiko Sugiura, Günter Blöschl, Taikan Oki, Murugesu Sivapalan

Environmental Science and Management Faculty Publications and Presentations

Since its development in the early 2010s, sociohydrology has deepened our understanding of the long-term coevolution of humans and water by integrating insights from both the natural and social sciences, while also fostering an interdisciplinary community. Its modus operandi to date has been to focus on emergent phenomena, manifesting as unintended consequences, in a variety of contexts. The compound disaster that struck Japan’s Noto Peninsula in 2024, and similar experiences in other parts of the world, underscore the urgent need for systemic approaches that are co-developed by academia and practitioners and focus on context-specific solutions. This perspective piece thus calls …

Against The Phrase "Aggressive Care", Trevor M Bibler

Center for Medical Ethics and Health Policy Staff Publications

Language is the primary technology clinical ethicists use as they offer guidance about norms. Like any other piece of technology, to use the technology well requires attention, intention, skill, and knowledge. Word choice becomes a matter of professional practice. The Brief Report offers clinical ethicists several reasons for rejecting the phrase "aggressive care." Instead, ethicists should consider replacing "aggressive care" with the adjacent concept of a "recovery-focused path." The virtues of this neologism include: the opportunity to set aside the emotion of "aggression," the phrase's accuracy when capturing the intention of the patient or their representative, and an unappreciated rhetorical …

A Survey Study Of Roadblocks In Translational Science, Fasiha Kanwal, Christopher I Amos, Katherine H Sippel, Claudia Neuhauser, Ariel Harrison, Mary E Dickinson, Charles Minard, Bettina M Beech

Faculty, Staff and Students Publications

Clinical and translational science needs to address roadblocks to the translational processes. We conducted a survey at two institutions, a private medical school and a large public university, to understand the frequency and distribution of barriers and roadblocks to research. We reviewed the literature to compile a pool of barriers and roadblocks and convened a panel of relevant stakeholders to develop a 20-item questionnaire. Survey respondents were asked to select and prioritize the five leading clinical and translational roadblocks, provide information regarding their academic degrees and rank/position, complete open-ended items regarding their areas of research, and optionally add additional remarks …

Cardiac Rhythm Devices In Heart Failure With Reduced Ejection Fraction – Role, Timing, And Optimal Use In Contemporary Practice European Journal Of Heart Failure Expert Consensus Document, Biykem Bozkurt, Wilfried Mullens, Christophe Leclercq, Andrea M Russo, Gianluigi Savarese, Michael Böhm, Loreena Hill, Koichiro Kinugawa, Naoki Sato, William T Abraham, Antoni Bayes-Genis, Alexandre Mebazaa, Giuseppe M C Rosano, Shelley Zieroth, Cecilia Linde, Javed Butler

Faculty, Staff and Students Publications

Guidelines for management of heart failure with reduced ejection fraction (HFrEF) emphasize personalized care, patient engagement, and shared decision-making. Medications and cardiac rhythm management (CRM) devices are recommended with a high level of evidence. However, there are significant disparities: patients who could benefit from devices are frequently referred too late or not at all. Misconceptions about device therapy and the notion that the needs of patients (especially the prevention of sudden cardiac death) can now be met by expanding drug therapies may play a role in these disparities. This state-of-the-art review is produced by members of the DIRECT HF initiative, …

Inhibition Of Srebp-1c Rescues Hepatic Cyp7b1 Expression And Bile Acid Synthesis In Malnourished Mice, Xiaoyang Wan, Krishnakant G Soni, Jong Min Choi, Sun Yun Jung, Margaret E Conner, Geoffrey A Preidis

Faculty, Staff and Students Publications

Malnutrition decreases intestinal bile acids, resulting in inefficient nutrient absorption and impaired catch-up growth. Mechanisms by which bile acid depletion occurs in malnutrition are unknown. Using a mouse model of early-life malnutrition, we explored bile acid homeostasis, focusing on transcriptional repression of CYP7B1, a rate-limiting enzyme in the alternative pathway of bile acid biosynthesis, by SREBP-1c, a master regulator of lipid metabolism. Mice were maintained on a low-protein low-fat or isocaloric control chow until eight weeks of age when livers were harvested for proteome profiling, western blot, RT-qPCR, and chromatin immunoprecipitation. Cultured hepatocytes and mice were treated with the SREBP-1c …

Cytokine Release Syndrome And Neurotoxicity Following Cd19 Car-T In B-Cell Lymphoma, Roni Shouval, Christopher Strouse, Soyoung Kim, Temitope Oloyede, Sairah Ahmed, Farrukh T Awan, Danny Luan, Veronika Bachanova, Talha Badar, Merav Bar, Pere Barba, Amer M Beitinjaneh, Amanda Cashen, Bhagirathbhai Dholaria, Mahmoud Elsawy, Siddhartha Ganguly, Praveen Ramakrishnan Geethakumari, Uri Greenbaum, Hamza Hashmi, Laquisa C Hill, Michael D Jain, Tania Jain, Partow Kebriaei, Adam S Kittai, Frederick L Locke, Premal D Lulla, Elena Mead, Joseph P Mcguirk, Alberto Mussetti, Taiga Nishihori, Amanda L Olson, Martina Pennisi, Miguel-Angel Perales, Peter A Riedell, Wael Saber, Abu-Sayeef Mirza, Margarida Magalhaes-Silverman, Elizabeth J Shpall, Mohamed Sorror, Kitsada Wudhikarn, Cameron J Turtle, Amy Moskop, Marcelo C Pasquini

Faculty, Staff and Students Publications

Chimeric antigen receptor T cell (CAR-T) therapy is an effective treatment for relapsed-refractory large B-cell lymphoma (LBCL). However, toxicities, particularly cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS), remain significant concerns. Analyze temporal trends, risk factors, and associations between these toxicities and their severity. In this registry study by the Center for International Blood and Marrow Transplant Research, we studied CRS and ICANS in 1916 LBCL patients treated with commercial CAR-T therapies (axicabtagene ciloleucel 74.9%, tisagenlecleucel 25.1%) between 2018 and 2020. Outcomes include development of CRS/ICANS, timing and severity according to ASTC grading, overall survival (OS). Risk …

Figo Position Statement: Gamete Donations, Laurie Henry, Aris Antsaklis, Dov Feldberg, Jaideep Malhotra, Suchitra Pandit, Carlos Salazar, Alex Vidaeff, Rafal Zadykowicz, M Louise Hull, Nikhil Purandare

Faculty, Staff and Students Publications

Gamete donation has become a crucial part of Assisted Reproductive Technologies (ARTs), providing hope to individuals, including those who may have no other option for parenthood. This process comes with a wide range of ethical, medical, and legal challenges that need to be carefully addressed to protect the well-being and rights of all parties involved: donors, recipients, and offspring. Navigating these complexities requires strict ethical standards, robust regulatory frameworks, and international collaboration. By standardizing these, the field of gamete donation can continue to develop while ensuring that all parties are well informed and safeguarded. This paper explores the ethical concerns …

Implementing A Stakeholder-Informed Approach For Standardized Collection Of Sexual Orientation And Gender Identity Data: Lessons Learned At A Matrix Comprehensive Cancer Center, Susan L Parker, Montserrat Ayala-Ramirez, Jane R Montealegre, Michael E Scheurer

Faculty, Staff and Students Publications

This brief report describes takeaways from the implementation of sexual orientation and gender identity (SOGI) data collection within a matrix comprehensive cancer center. Implementation of standardized and parsimonious SOGI data collection practices is a strategy recommended to improve our understanding of the cancer experiences among sexual and gender minority (SGM) populations. However, interventions are rarely sustained in routine practice without an organized program to support their implementation. We used a stakeholder-engaged approach to integrate a SOGI questionnaire in the electronic health record (EHR) at Dan L Duncan Comprehensive Cancer Center (DLDCCC)-affiliated adult oncology clinics and evaluate its feasibility, acceptability, and …

Exploring The Composition Of Forest Collaboratives In Northeastern Oregon, Lee K. Cervany, Rebecca J. Mclain, Kristen Wright

National Policy Consensus Center Publications

Community-based collaboration has been touted as an effective model for forest governance because it promotes democratized decision-making and stakeholder engagement to address landscape-scale problems. Forest collaboratives are assumed to be heterogeneous, consisting of stakeholders with a diverse range of interests. Few studies have systematically explored variables associated with collaborative composition. We identify six elements of collaborative composition for investigation: size, stakeholder diversity, balance, locality–diversity, core attendance, and cross-participation. This exploratory study examines five forest collaborative groups in eastern Oregon (USA). We analyzed meeting minutes over an 18-month period to track attendance and evaluate who shows up and at what frequency. …

Clinical Assessment On Days 1-14 For The Characterization Of Traumatic Brain Injury: Recommendations From The 2024 Ninds Traumatic Brain Injury Classification And Nomenclature Initiative Clinical/Symptoms Working Group, David K Menon, Noah D Silverberg, Adam R Ferguson, Thomas J Bayuk, Shubhayu Bhattacharyay, David L Brody, Scott A Cota, Ari Ercole, Anthony Figaji, Guoyi Gao, Christopher C Giza, Fiona Lecky, Rebekah Mannix, Ana Mikolić, Kasey E Moritz, Claudia S Robertson, Abel Torres-Espin, Spyridoula Tsetsou, John K Yue, Hibah O Awad, Kristen Dams-O'Connor, Adele Doperalski, Andrew I R Maas, Michael A Mccrea, Nsini Umoh, Geoffrey T Manley

Faculty, Staff and Students Publications

The current classification of traumatic brain injury (TBI) primarily uses the Glasgow Coma Scale (GCS) to categorize injuries as mild (GCS 13-15), moderate (GCS 9-12), or severe (GCS ≤8). However, this system is unsatisfactory, as it overlooks variations in injury severity, clinical needs, and prognosis. A recent report by the National Academies of Sciences, Engineering, and Medicine (USA) recommended updating the classification system, leading to a workshop in 2024 by the National Institute of Neurological Disorders and Stroke. This resulted in the development of a new clinical, biomarker, imaging, and modifier (CBI-M) framework, with input from six working groups, including …

Copy Number Flexibility Facilitates Heteroresistance To Increasing Antibiotic Pressure And Threatens The Beta-Lactam Pipeline, Jacob E Choby, Tugba Ozturk, Carter N Abbott, Christina Nnabuife, Jennifer M Colquhoun, Sarah W Satola, Philip N Rather, Timothy Palzkill, David S Weiss

Faculty, Staff and Students Publications

Our understanding of the rapid adaptation of bacteria to resist novel drugs is growing beyond known mechanisms such as mobile genetic elements and mutation selection. Heteroresistance (HR) is a form of antibiotic resistance where a phenotypically unstable minority resistant subpopulation co-exists with a susceptible population. We sought to uncover the mechanism of heteroresistance to cefiderocol, a novel β-lactam developed to resist β-lactamases including extended-spectrum-β-lactamases (ESBLs), which has been recently reported but poorly understood. We observe HR to cefiderocol among clinical isolates collected before its use. The resistant subpopulation in Enterobacter is a continuum; increasing copy number of a gene encoding …

The Somatic Mosaicism Across Human Tissues Network, Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall, Alexej Abyzov, Lucinda Antonacci-Fulton, Samuel Aparicio, Kristin G Ardlie, Thomas J Bell, James T Bennett, Bradley E Bernstein, Thomas G Blanchard, Alan P Boyle, Jason D Buenrostro, Kathleen H Burns, Fei Chen, Rui Chen, Sangita Choudhury, Harsha V Doddapaneni, Evan E Eichler, Gilad D Evrony, Melissa A Faith, Thomas G Fazzio, Robert S Fulton, Manuel Garber, Nils Gehlenborg, Soren Germer, Gad Getz, Richard A Gibbs, Raquel G Hernandez, Fulai Jin, Jan O Korbel, Dan A Landau, Heather A Lawson, Niall J Lennon, Heng Li, Yan Li, Po-Ru Loh, Gabor Marth, Michael J Mcconnell, Ryan E Mills, Stephen B Montgomery, Pradeep Natarajan, Peter J Park, Rahul Satija, Fritz J Sedlazeck, Diane D Shao, Hui Shen, Andrew B Stergachis, Hunter R Underhill, Alexander E Urban, Melissa W Vondran, Christopher A Walsh, Ting Wang, Tao P Wu, Chenghang Zong, Eunjung Alice Lee, Flora M Vaccarino

Center on Aging Staff Publications

From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues …

C-Terminal Frameshift Variants In Gpkow Are Associated With A Multisystemic X-Linked Disorder, Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Renee Carroll, Mathilde Nizon, Sophie Rondeau, Madeleine Joubert, Silvestre Cuinat, Wallid Deb, Fernanda Valle Sirias, Monika Weisz-Hubshman, Shamika Ketkar, Urszula Polak, Alyssa A Tran, Debra Kearney, Neil A Hanchard, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Brendan H Lee, Shinya Yamamoto, Keren Machol

Duncan NRI Faculty and Staff Publications

Purpose: GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in messenger RNA (mRNA) processing as a spliceosome subunit. This work aims to establish GPKOW as a disease-associated gene.

Methods: We describe 3 males from 2 unrelated families with hemizygous frameshift variants affecting the last exon of GPKOW p.(Arg441SerfsTer30) and p.(Ser444GlufsTer28). The effect of p.(Ser444GlufsTer28) on gene expression was evaluated in patient's fibroblasts. In vivo studies in Drosophila melanogaster targeting the sole GPKOW fly ortholog, CG10324 (Gpkow) were performed.

Results: Clinical presentations included intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities. Heterozygote females presented …

A Phase 2 Trial Of Short-Term Intravenous N-Acetylcysteine In Biliary Atresia After Kasai Portoenterostomy, Sanjiv Harpavat, Kristin A Borovsky, Michael E Scheurer, Laurel Cavallo, Franca E Erhiawarie, Sanjeev Vasudevan, Adam M Vogel, Dana Cerminara, Elizabeth M Tessier, Kalyani R Patel, Sridevi Devaraj, Benjamin L Shneider

Center for Medical Ethics and Health Policy Staff Publications

Background: For infants with biliary atresia, the only treatment that can establish bile flow and delay need for liver transplant is the Kasai portoenterostomy (KP). Unfortunately, the KP has variable success. In this study, we hypothesized that intravenous N-acetylcysteine (IV NAC) treatment following KP would improve bile flow.

Methods: This was a phase 2 study following the two-stage "minimax" trial design. Participants received IV NAC (150 mg/kg/day) for 7 days after KP, and the primary endpoint was achieving total serum bile acids (TSBA) ≤10 μmol/L within 24 weeks of KP. Secondary endpoints were clinical markers and the occurrence of sentinel …

Cryoem Structure Of The Slfn14 Endoribonuclease Reveals Insight Into Rna Binding And Cleavage, Justin Van Riper, Arleth O Martinez-Claros, Lie Wang, Hannah E Schneiderman, Sweta Maheshwari, Monica C Pillon

Faculty, Staff and Students Publications

The SLFN14 endoribonuclease is a post-transcriptional regulator that targets the ribosome and its associated RNA substrates for codon-bias translational repression. SLFN14 nuclease activity is linked to antiviral defense and platelet function. Despite its prominent role in gene regulation, the molecular signals regulating SLFN14 substrate recognition and catalytic activation remain unclear. SLFN14 dysregulation is linked to human diseases, including ribosomopathies and inherited thrombocytopenia, thus underscoring the importance of establishing the signals coordinating its RNA processing activity. Here, we reconstitute active full-length human SLFN14 and report a high-resolution cryoEM reconstruction of the SLFN14•RNA complex. The structure reveals a medallion-like architecture that shares …

Genomic Reporting Practices Across 5 Molecular Disciplines: A Study From The College Of American Pathologists, Larissa V Furtado, Annette S Kim, Ann M Moyer, Joel T Moncur, Rena R Xian, Angshumoy Roy, Avni B Santani, Yassmine Akkari, Karl V Voelkerding, Rhona J Souers, Jaimie Halley, Glenn E Palomaki

Faculty, Staff and Students Publications

Context.—: Genomic reports are primarily organized in a narrative and unstructured format with variations in content and format. Regulatory requirements and professional guidelines for genetic test reporting exist but provide little guidance for effective communication of information.

Objective.—: To assess clinical genomic reporting practices across 5 disciplines within molecular diagnostics, including germline, somatic solid tumors, somatic hematologic malignancies, pharmacogenomics, and prenatal cell-free DNA screening.

Design.—: Reporting practices were assessed by using a structured review of clinical genomic reports from multiple laboratories in 5 molecular disciplines spanning different practice settings. Report content was reviewed by the presence/absence of from 27 to …