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Interspecific Sources Of Resistance For Neisseria Gonorrhoeae: Investigating Horizontally Transferred Antimicrobial Resistance Markers, Makenna Swartz Apr 2025

Interspecific Sources Of Resistance For Neisseria Gonorrhoeae: Investigating Horizontally Transferred Antimicrobial Resistance Markers, Makenna Swartz

Theses

Antibiotic resistance is a growing public health crisis, limiting treatment options and increasing the burden of infectious diseases. Bacteria can rapidly gain resistance through mutations and horizontal gene transfer (HGT). Understanding these mechanisms is critical for developing strategies to mitigate resistance and preserve antibiotic efficiency. Neisseria gonorrhoeae, the causative agent of gonorrhea, has developed resistance to multiple antibiotics, and has only one remaining treatment option. Commensal species are constantly exposed to antibiotics in humans, and over time acquire resistant mutations that then transfer to pathogenic species through HGT. Investigating these exchanges can provide insight into how resistance evolves and spreads …


Mapping Accessibility In Dubai: Evaluating Al Wasl And Mirdif Against 20-Minute City Principles And The Dubai 2040 Urban Master Plan, Fatima Mohammed Almulla Apr 2025

Mapping Accessibility In Dubai: Evaluating Al Wasl And Mirdif Against 20-Minute City Principles And The Dubai 2040 Urban Master Plan, Fatima Mohammed Almulla

Theses

The 15-minute city is a planning concept that aims to give people easy access to daily services such as schools, shops, healthcare, and recreation within a short walk or bike ride. Dubai has adapted this concept into a 20-minute city model under the Dubai 2040 Urban Master Plan. The goal is to reduce car use, improve quality of life, and create connected and sustainable neighborhoods. This study evaluates how well two neighborhoods in Dubai, Al Wasl and Mirdif, match the 20-minute city model. It analyzes three main goals from the Urban Master Plan: having 55% of residents within 800 meters …


Adaptive Reuse Of Abandoned Schools, Dayana Williams Apr 2025

Adaptive Reuse Of Abandoned Schools, Dayana Williams

Theses

This thesis investigates the adaptive reuse of abandoned school buildings in economically declining communities, mainly focusing on how these transformations can contribute to sustainable community revitalization. The research highlights Columbus, Ohio, where school closures and grade realignments threaten to leave many school properties vacant, especially in minority neighborhoods. This adaptive reuse strategy presents an opportunity to address issues such as urban decay, resource efficiency, and social equity by repurposing these buildings into multifunctional community assets. The study adopts a multi-method approach, including literature reviews, case study analysis, and community needs assessments, to identify best practices and critical challenges in adaptive …


Insights Into Covid-19 Dynamics Via The Integration Of Subpopulations, Vaccinations, And Bayesian Calibration In A Semi-Enclosed Community Model Framework, Meghan Rowan Childs Apr 2025

Insights Into Covid-19 Dynamics Via The Integration Of Subpopulations, Vaccinations, And Bayesian Calibration In A Semi-Enclosed Community Model Framework, Meghan Rowan Childs

Theses

From the beginning of the COVID-19 pandemic, universities have experienced unique challenges due to their multifaceted nature as a place of education, residence, and employment. Previous work has used mathematical models to explore varying approaches to combating COVID-19 and tailored these models to local contexts, such as hospitals. However, previous work has not broadly incorporated pharmaceutical mitigation strategies into university models. We address this gap in research by integrating subpopulations, vaccines, and COVID-19 variants into a semi-enclosed population model framework. We further improve the quantification of uncertainty in the model parameters by implementing a formal Bayesian model calibration, fusing real-world …


Applying Results Of Extended Genotyping To Management Of Positive Cervicovaginal Human Papillomavirus Test Results: Enduring Guidelines, L. Stewart Massad, Megan A. Clarke, Rebecca B. Perkins, Francisco Garcia, David Chelmow, Li C. Cheung, Teresa M. Darragh, Didem Egemen, Thomas S. Lorey, Ritu Nayar, Morgan Newman, Carolann Risley, Robert A. Smith, Nicolas Wentzensen, Enduring Consensus Cervical Cancer Screening And Management Guidelines Committee Apr 2025

Applying Results Of Extended Genotyping To Management Of Positive Cervicovaginal Human Papillomavirus Test Results: Enduring Guidelines, L. Stewart Massad, Megan A. Clarke, Rebecca B. Perkins, Francisco Garcia, David Chelmow, Li C. Cheung, Teresa M. Darragh, Didem Egemen, Thomas S. Lorey, Ritu Nayar, Morgan Newman, Carolann Risley, Robert A. Smith, Nicolas Wentzensen, Enduring Consensus Cervical Cancer Screening And Management Guidelines Committee

2020-Current year OA Pubs

OBJECTIVE: The Enduring Consensus Cervical Cancer Screening and Management Guidelines Committee developed recommendations for the use of extended genotyping results in cervical cancer prevention programs.

METHODS: Risks of cervical intraepithelial neoplasia grade 3 or worse were calculated using data obtained with the Onclarity HPV Assay from large cohorts. Management recommendations were based on clinical action thresholds developed for the 2019 American Society for Colposcopy and Cervical Pathology Risk-Based Management Consensus Guidelines. Risk estimates were reviewed in relation to clinical action thresholds and used as the basis for draft recommendations. After an open comment period, recommendations were finalized and ratified through …


Subgroup Evaluation To Understand Performance Gaps In Deep Learning-Based Classification Of Regions Of Interest On Mammography, Minjae Woo, Linglin Zhang, Beatrice Brown-Mulry, Inchan Hwang, Judy Wawira Gichoya, Aimilia Gastounioti, Imon Banerjee, Laleh Seyyed-Kalantari, Hari Trivedi Apr 2025

Subgroup Evaluation To Understand Performance Gaps In Deep Learning-Based Classification Of Regions Of Interest On Mammography, Minjae Woo, Linglin Zhang, Beatrice Brown-Mulry, Inchan Hwang, Judy Wawira Gichoya, Aimilia Gastounioti, Imon Banerjee, Laleh Seyyed-Kalantari, Hari Trivedi

2020-Current year OA Pubs

This study evaluates a deep learning model for classifying normal versus potentially abnormal regions of interest (ROIs) on mammography, aiming to identify imaging, pathologic, and demographic characteristics that may induce suboptimal model performance in certain patient subgroups. We utilized the EMory BrEast imaging Dataset (EMBED), containing 3.4 million mammographic images from 115,931 patients. Full-field digital mammograms from women aged 18 years or older were used to create positive and negative patches with the patches matched based on size, location, patient demographics, and imaging features. Several convolutional neural network (CNN) architectures were tested, with ResNet152V2 demonstrating the best performance. The dataset …


Spring 2025, Humayun Islam Apr 2025

Spring 2025, Humayun Islam

PMI Newsletter

No abstract provided.


Systemic Inflammation Is Associated With Worse Outcomes From Sars-Cov-2 Infection But Not Neutralizing Antibody, Christopher W Farnsworth, Brittany Roemmich, John Prostko, Gerard Davis, Gillian Murtagh, Laurel Jackson, Christopher Jacobson, Nicolette Jeanblanc, Timothy Griffiths, Edwin Frias, David J Daghfal Apr 2025

Systemic Inflammation Is Associated With Worse Outcomes From Sars-Cov-2 Infection But Not Neutralizing Antibody, Christopher W Farnsworth, Brittany Roemmich, John Prostko, Gerard Davis, Gillian Murtagh, Laurel Jackson, Christopher Jacobson, Nicolette Jeanblanc, Timothy Griffiths, Edwin Frias, David J Daghfal

2020-Current year OA Pubs

Systemic inflammation is associated with COVID-19 mortality rates, but the impact of inflammation on neutralizing antibodies to severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) and on outcomes is poorly understood. This study aimed to determine the association between neutralizing antibody responses, inflammation, and clinical outcomes in hospitalized patients with COVID-19. Two hundred and eight patients presenting to the ED with symptomatic SARS-CoV-2 were included. Neutralization was assessed using the architect angiotensin-converting enzyme-2 (ACE2) binding inhibition assay, and inflammation was assessed using C reactive protein (CRP) and interleukin 6 (IL-6). Medical records were examined for 30-day mortality and 10-day intubation. Correlation …


Linguistic Ideologies Of Foreign Assistant Language Teachers In Japan, Catherine Johnson Apr 2025

Linguistic Ideologies Of Foreign Assistant Language Teachers In Japan, Catherine Johnson

School of Education and Leadership Student Capstone Theses and Dissertations

Assistant Language Teachers (ALTs) in Japan are recruited globally to provide support in primary and secondary English as a Foreign Language (EFL) classrooms. Though there are several recruitment programs, this study examined ALTs who participated in the Japan Exchange and Teaching (JET) Program. Specifically, this study addressed the research question: how do foreign assistant language teachers (ALTs) teaching English as a Foreign Language (EFL) in Japan develop a linguistic ideology? To provide context to this research question, the literature review covered prescriptivism and descriptivism as two ends of a spectrum of linguistic ideologies, speakerism and pedagogy of Global Englishes, pragmatic …


Bridging The Divide: Addressing The Achievement Gap Amidst Educational Resegregation In The Twin Cities, Josiah Wiest Apr 2025

Bridging The Divide: Addressing The Achievement Gap Amidst Educational Resegregation In The Twin Cities, Josiah Wiest

School of Education and Leadership Student Capstone Theses and Dissertations

This study uses secondary analysis of data to examine the following research questions: RQ1: What is the relationship between funding allocation and academic performance across metro high schools with varying levels of racial segregation? RQ2: What is the correlation between demographic factors and academic achievement in metro high schools, and how do these factors contribute to the racial achievement gap? The review of literature analyzes the implications of the rapid resegregation in the Minnesota education system, examining how racial and economic segregation confines Black and Brown children within a cycle of inequality, forcing students to receive a lesser education. The …


A Look At Improving Independent Reading: Introducing Concept Mapping Into Sustained Silent Reading To Improve Comprehension, Shawn Reagan Apr 2025

A Look At Improving Independent Reading: Introducing Concept Mapping Into Sustained Silent Reading To Improve Comprehension, Shawn Reagan

School of Education and Leadership Student Capstone Theses and Dissertations

Reagan, S. (2025). A Look at Improving Independent Reading: Introducing Concept Mapping into Sustained Silent Reading to Improve Comprehension

This thesis explores how integrating concept mapping into a sustained silent reading (SSR) program affects middle school students’ reading comprehension. Motivated by personal experiences as a reader and educator, and shaped by literacy research and the Science of Reading movement, this study investigates strategies to increase student engagement and comprehension through intervention within independent reading programs. Conducted at a K–12 charter school in Minneapolis, the quasi-experimental study involved two sixth-grade English Language Arts classes over nine weeks. One class (experimental group) …


Translanguaging-Informed Beliefs And Practices Of Spanish-English Middle School Bilingual Teachers Upon Completion Of An Online Professional Development, Allison Briceño, Claudia Rodriguez-Mojica, Sara Rutherford-Quach, Marisa Ruiz, Kathy Stoehr, Qican Sunny Cao Apr 2025

Translanguaging-Informed Beliefs And Practices Of Spanish-English Middle School Bilingual Teachers Upon Completion Of An Online Professional Development, Allison Briceño, Claudia Rodriguez-Mojica, Sara Rutherford-Quach, Marisa Ruiz, Kathy Stoehr, Qican Sunny Cao

Faculty Research, Scholarly, and Creative Activity

As part of a U.S. Department of Education grant, we developed over 60 hours of online professional development (OPD) modules in Spanish. This mixed methods study: (1) explores Spanish-English middle school bilingual teachers’ (MSBTs') shifts in language ideologies before and after completing the OPD, and (2) investigates if and how OPD resources support implementation of practices that reflect translanguaging pedagogy. Data sources include pre- and post-OPD survey results and semi-structured interviews. The two surveys were analyzed based on their scales; the interviews were analyzed iteratively using inductive and deductive codes. Survey analysis showed positive shifts in MSBTs’ beliefs and increased …


The Purpose Of The Preliminary Injunction, Samuel L. Bray Apr 2025

The Purpose Of The Preliminary Injunction, Samuel L. Bray

Vanderbilt Law Review

This Article explores a reshaping of the preliminary injunction that is occurring in the federal courts. A preliminary injunction is designed to be a “hold in place” order, blocking actions by the parties that would undermine the efficacy of the court’s remedial options. But the preliminary injunction is becoming a device for accelerating the merits decision. Instead of a four-factor test for preliminary relief, increasingly there is one factor: the merits. This Article critiques this transformation, and it argues that the preliminary injunction should be recentered on the protection of the court’s remedial options.


Rethinking The Litigation Boom, Charlotte S. Alexander Apr 2025

Rethinking The Litigation Boom, Charlotte S. Alexander

Vanderbilt Law Review

This Article rethinks the functions and functioning of litigation booms. Using an original data set that tracks Fair Labor Standards Act cases during the 2000–2016 period, the Article shows that booms are not anomalies but are instead an expected behavior in our distributed system of civil law enforcement. Specifically, plaintiffs and their lawyers “herd” or converge on a particular type of case, fueled by information transmitted via networks, made available to the general public, or both. The data also reveal that booms can end on their own, reaching a natural tipping point without legislative or judicial retrenchment. This analysis has …


How Does Frugal Innovation Help Young Firms In The Us? The Moderating Roles Of Venture Capital Investment And Debt Financing, Zafrin Rahman, Wanying Shi Apr 2025

How Does Frugal Innovation Help Young Firms In The Us? The Moderating Roles Of Venture Capital Investment And Debt Financing, Zafrin Rahman, Wanying Shi

Business Faculty Publications and Presentations

This study examines the effects of frugal innovation on firm performance among young firms located in the U.S. Though frugal innovation is a concept that originated from innovation practices among emerging market firms, firms in the developed economies have absorbed a frugal mindset and are regularly exercising frugal innovation. We develop a framework for frugal innovation by building on entrepreneurial bricolage theory. One of our research findings shows that young firms in the U.S. find frugal innovation useful in gaining firm performance. In addition, interaction effects on firm performance are tested; those between frugal innovation and venture capital (VC) equity …


Tenapanor Improves Abdominal Symptoms Irrespective Of Changes In Complete Spontaneous Bowel Movement Frequency In Adults With Irritable Bowel Syndrome With Constipation, Darren M Brenner, Gregory S Sayuk, Brooks D Cash, Lucinda A Harris, Nitin K Ahuja, Jill K Deutsch, Yang Yang, Suling Zhao, David P Rosenbaum, Anthony J Lembo Apr 2025

Tenapanor Improves Abdominal Symptoms Irrespective Of Changes In Complete Spontaneous Bowel Movement Frequency In Adults With Irritable Bowel Syndrome With Constipation, Darren M Brenner, Gregory S Sayuk, Brooks D Cash, Lucinda A Harris, Nitin K Ahuja, Jill K Deutsch, Yang Yang, Suling Zhao, David P Rosenbaum, Anthony J Lembo

2020-Current year OA Pubs

INTRODUCTION: Tenapanor is a first-in-class, minimally absorbed intestinal sodium/hydrogen exchanger isoform 3 inhibitor approved by the US Food and Drug Administration for adults with irritable bowel syndrome with constipation (IBS-C). Pooled data from the phase 2b (NCT01923428) and phase 3 T3MPO-1 (NCT02621892) and T3MPO-2 (NCT02686138) studies examined the effects of tenapanor on abdominal symptoms independent of tenapanor's effect on complete spontaneous bowel movement (CSBM) frequency in adults with IBS-C.

METHODS: This post hoc analysis was performed for patients with no CSBMs in ≥6 of the first 12 weeks of treatment (no-CSBM subgroup). The three-item abdominal score (AS3; the average of …


Genomic Analysis Of 11,555 Probands Identifies 60 Dominant Congenital Heart Disease Genes, Michael C Sierant, Sheng Chih Jin, Et Al. Apr 2025

Genomic Analysis Of 11,555 Probands Identifies 60 Dominant Congenital Heart Disease Genes, Michael C Sierant, Sheng Chih Jin, Et Al.

2020-Current year OA Pubs

Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 genes with a significant burden of heterozygous damaging variants. Variants in these genes accounted for CHD in 10.1% of probands with similar contributions from de novo and transmitted variants in parent-offspring trios that showed incomplete penetrance. DNMs in these genes accounted for 58% of the signal from DNMs. Thirty-three genes were linked to a single CHD subtype while 12 genes were associated with 2 to …


Motivators And Barriers To Healthy Food Consumption: Qualitative Study With Gen Z Living In Bratislava, Emel Yarimoglu, Lucia Vilcekova Apr 2025

Motivators And Barriers To Healthy Food Consumption: Qualitative Study With Gen Z Living In Bratislava, Emel Yarimoglu, Lucia Vilcekova

AMTP Proceedings 2025

People in Europe have been caring about physical activity, healthy eating, and healthy body weight. The study aimed to explore the motivators and barriers to healthy food consumption among university students living in Bratislava, Slovakia. Qualitative research was conducted with sixteen students, and data were collected by written text. Self-reported written data were collected by convenience sampling and analyzed via content analysis. Four motivators of healthy food consumption were revealed (personal appearance, health-consciousness, physical activity, and social), and four barriers to healthy food consumption were obtained (functional, personal, psychological, and social). This research is original since it demonstrated motivators and …


Chimes: April 1, 2025, Calvin University Apr 2025

Chimes: April 1, 2025, Calvin University

Chimes

Kelvin hires "media medium" to write all official comments for The Jingle by Disfavor Fuller

All dining halls closed, faculty to feed students by I. M. Hungary

Kelvin faces severe drop in student engagement by June Knot

budget Trouble? Kelvin steals Michigan's 5 Star QB Bryce Underwood with $15 million NIL deal, university economy collapses by Zach Korn

Entire football team cut- "it just seemed like the right thing to do" by Grant Funding & Ethan Liar

Synod-approved definitional gymnastics team to start inaugural season in 2025-26 by Nathan Meijer

Stairs by KE apartments to be turned into terraced rain …


Masthead Apr 2025

Masthead

UC Law Journal

No abstract provided.


Digital Dollar: Privacy And Transparency Dilemma, Jiayin Jiang Apr 2025

Digital Dollar: Privacy And Transparency Dilemma, Jiayin Jiang

UC Law Journal

Many have voiced concerns that the digital dollar, a digital form of central bank money, will facilitate government surveillance, thus depriving users of privacy. This Article investigates critical technical designs proposed by leading think tanks, central banks, and scholars from interdisciplinary fields, reaching a surprising conclusion that contradicts popular belief: a digital dollar can offer better privacy protection than existing digital payment systems. The Article argues that those expressing concerns have made two flawed assumptions: (1) that digital dollar data is fully transparent regarding personal information and transaction details and (2) that the government or Federal Reserve has unrestricted access …


The Case Against Surge Pricing, Ramsi A. Woodcock Apr 2025

The Case Against Surge Pricing, Ramsi A. Woodcock

UC Law Journal

Surge pricing—using data and algorithms to raise prices in response to unexpected increases in demand—has spread across the economy in recent years, from Amazon and Disney World to commuter highways and, of course, Uber, which is infamous for surge pricing rides. Companies claim that surge pricing equilibrates supply and demand, but that is impossible, at least in the short run when demand unexpectedly outstrips supply. What surge pricing really does is to ration existing supply based on ability to pay. That is both distributively unjust and potentially inefficient. It should also be considered a violation of the antitrust laws because …


The Pathway To And Consequences Of Foster Parent Intervention In Dependency Cases, Gillian Katz Lamon Apr 2025

The Pathway To And Consequences Of Foster Parent Intervention In Dependency Cases, Gillian Katz Lamon

UC Law Journal

Over the last 50 years, federal child welfare legislation has wrestled with how to reconcile the competing goals of the child welfare system: child protection, family preservation, and permanency. The United States foster care system has evolved alongside transformations in private adoptions. As the prospects for private adoption have dwindled, the pendulum has shifted toward prioritizing child protection. Youth in foster care have suddenly become the private adoption alternative. Most recently, some state courts have granted foster parents standing to intervene in termination of parental rights proceedings. In those cases, foster parents are permitted to battle with natural parents for …


Compensated To The Moon: The Impact Of Excessive Compensation On Director Independence Post Tornetta V. Musk, Andrea Olofson Chen Apr 2025

Compensated To The Moon: The Impact Of Excessive Compensation On Director Independence Post Tornetta V. Musk, Andrea Olofson Chen

UC Law Journal

Excessive director compensation erodes the independence that directors are supposed to bring to boardrooms. In theory, directors are meant to serve as objective parties, overseeing corporations using their care, skill, and loyalty to promote sound decisionmaking. However, excessive compensation can create the unintended ill-effect of rendering a director beholden to upper management and unable to make clear-eyed, impartial decisions. To mitigate this problem, this Note advocates for the implementation of tenure limits, compensation caps, and enhanced proxy disclosures to ensure that board members uphold their fiduciary duties and make decisions in the best interests of the corporations they serve rather …


Differentiation Stage Predicts Radiosensitivity In Mesenchymal-Like Pancreatic Cancer, Tingshi Su, Xinjian Yu, Mojtaba Hoseini-Ghahfarokhi, David B Flint, Scott J Bright, Joana I D S Antunes, David K J Martinus, Mandira Manandhar, Mariam Ben Kacem, Poliana C Marinello, Eurico J G Pereira, Hua-Sheng Chiu, Uwe Titt, David R Grosshans, Jan Schuemann, Henning Willers, Harald Paganetti, Pavel Sumazin, Gabriel O Sawakuchi Apr 2025

Differentiation Stage Predicts Radiosensitivity In Mesenchymal-Like Pancreatic Cancer, Tingshi Su, Xinjian Yu, Mojtaba Hoseini-Ghahfarokhi, David B Flint, Scott J Bright, Joana I D S Antunes, David K J Martinus, Mandira Manandhar, Mariam Ben Kacem, Poliana C Marinello, Eurico J G Pereira, Hua-Sheng Chiu, Uwe Titt, David R Grosshans, Jan Schuemann, Henning Willers, Harald Paganetti, Pavel Sumazin, Gabriel O Sawakuchi

Faculty, Staff and Student Publications

Purpose: To derive a genomic classifier to predict radiosensitivity of pancreatic cancer cell lines and patients with pancreatic cancer to allow genomic-guided radiation therapy.

Methods and materials: We collected a comprehensive data set of full clonogenic cell survival curves of 45 pancreatic cancer cell lines irradiated with clinical photon and proton beams. We derived classifiers based on data from human embryonic and fetal pancreas single-cell RNA-sequencing to distinguish between epithelial and mesenchymal cells and to predict pancreas cell-line differentiation stage. Independent testing was done with an embryonic mouse pancreas single-cell RNA-sequencing data set. We then used bulk RNA-seq profiles from …


De Novo Variants In Rybp Are Associated With A Severe Neurodevelopmental Disorder And Congenital Anomalies, Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra Von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K Chung, Rebecca R Hernan, Foong Y Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K Graves, Undiagnosed Diseases Network, Michael F Wangler, Carlos Bacino, Brendan Lee Apr 2025

De Novo Variants In Rybp Are Associated With A Severe Neurodevelopmental Disorder And Congenital Anomalies, Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra Von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K Chung, Rebecca R Hernan, Foong Y Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K Graves, Undiagnosed Diseases Network, Michael F Wangler, Carlos Bacino, Brendan Lee

Duncan NRI Faculty and Staff Publications

Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of the noncanonical Polycomb Repressor Complex 1; however, its role in disease is unclear.

Methods: Functional consequences of RYBP variants were assessed using in vitro cellular and in vivo Drosophila melanogaster studies.

Results: We described 7 individuals with heterozygous de novo variants of RYBP and their clinical findings, including severe developmental delay, dysmorphisms, and multiple congenital anomalies. We showed that all single-nucleotide variants in RYBP localize to the N-terminal domain of …


Amniocentesis In Pregnancies At Or Beyond 24 Weeks: An International Multicenter Study, Roni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica L Giordano, Thomas M Heisler, Qi Yan, Roni Plaschkes, Jenny Stokes, Jennifer M Walsh, Siobhán Corcoran, Erica Schindewolf, Kendra Miller, Asha N Talati, Kristen A Miller, Karin Blakemore, Kate Swanson, Jana Ramm, Ivonne Bedei, Teresa N Sparks, Angie C Jelin, Neeta L Vora, Juliana S Gebb, David A Crosby, Michal Berkenstadt, Boaz Weisz, Ronald J Wapner, Ignatia B Van Den Veyver Apr 2025

Amniocentesis In Pregnancies At Or Beyond 24 Weeks: An International Multicenter Study, Roni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica L Giordano, Thomas M Heisler, Qi Yan, Roni Plaschkes, Jenny Stokes, Jennifer M Walsh, Siobhán Corcoran, Erica Schindewolf, Kendra Miller, Asha N Talati, Kristen A Miller, Karin Blakemore, Kate Swanson, Jana Ramm, Ivonne Bedei, Teresa N Sparks, Angie C Jelin, Neeta L Vora, Juliana S Gebb, David A Crosby, Michal Berkenstadt, Boaz Weisz, Ronald J Wapner, Ignatia B Van Den Veyver

Center for Medical Ethics and Health Policy Staff Publications

Background: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.

Objective: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.

Study design: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages …


Crispr/Cas9 Gene Therapy Increases The Risk Of Tumorigenesis In The Mouse Model Of Hereditary Tyrosinemia Type I, Tong Chen, Mercedes Barzi, Nika Furey, Hyunjae R Kim, Francis P Pankowicz, Xavier Legras, Sara H Elsea, Ayrea E Hurley, Diane Yang, David A Wheeler, Malgorzata Borowiak, Beatrice Bissig-Choisat, Pavel Sumazin, Karl-Dimiter Bissig Apr 2025

Crispr/Cas9 Gene Therapy Increases The Risk Of Tumorigenesis In The Mouse Model Of Hereditary Tyrosinemia Type I, Tong Chen, Mercedes Barzi, Nika Furey, Hyunjae R Kim, Francis P Pankowicz, Xavier Legras, Sara H Elsea, Ayrea E Hurley, Diane Yang, David A Wheeler, Malgorzata Borowiak, Beatrice Bissig-Choisat, Pavel Sumazin, Karl-Dimiter Bissig

Center for Medical Ethics and Health Policy Staff Publications

Background & aims: The therapeutic potential of CRISPR gene editing has been demonstrated in various animal models; however, little is known about its long-term consequences. This study seeks to bridge this gap by investigating the lasting consequences of CRISPR gene therapy in an animal model of hereditary tyrosinemia type I (HT-I). We compared the standard of care-nitisinone, a small molecule inhibitor of hydroxyphenylpyruvate dioxygenase (HPD)-with the deletion of the Hpd gene by CRISPR gene therapy. Both treatments block flux through tyrosine catabolism and thereby prevent the accumulation of toxic catabolites in HT-I.

Methods: We assessed the efficacy and safety of …


Ethical Considerations For Sharing Aggregate Results From Pragmatic Clinical Trials, Stephanie R Morain, Abigail Brickler, Joseph Ali, Patricia Pearl O'Rourke, Kayte Spector-Bagdady, Benjamin Wilfond, Vasiliki Rahimzadeh, Caleigh Propes, Kayla Mehl, David Wendler Apr 2025

Ethical Considerations For Sharing Aggregate Results From Pragmatic Clinical Trials, Stephanie R Morain, Abigail Brickler, Joseph Ali, Patricia Pearl O'Rourke, Kayte Spector-Bagdady, Benjamin Wilfond, Vasiliki Rahimzadeh, Caleigh Propes, Kayla Mehl, David Wendler

Center for Medical Ethics and Health Policy Staff Publications

A growing literature has explored the ethical obligations and current practices related to sharing aggregate results with research participants. However, no prior work has examined these issues in the context of pragmatic clinical trials. Several characteristics of pragmatic clinical trials may complicate both the ethics and the logistics of sharing aggregate results. Among these characteristics include that pragmatic clinical trials may affect the rights, welfare, and interests of not only patient-subjects but also clinicians, meaning that results may be owed to a broader range of groups than typically considered in other research contexts. In addition, some pragmatic clinical trials are …


A Multipronged Effort To Incorporate Professionalism Into Campuswide Programming Through A Center For Professionalism, Kyler M Godwin, Asma Ali, Larry Laufman, Ellen M Friedman Apr 2025

A Multipronged Effort To Incorporate Professionalism Into Campuswide Programming Through A Center For Professionalism, Kyler M Godwin, Asma Ali, Larry Laufman, Ellen M Friedman

Faculty, Staff and Students Publications

Background Professionalism, a core competency for graduate medical education accreditation, has a clear educational mandate. However, the pathway to successful incorporation of professionalism within organizational culture has not been established. Integration of professionalism within the learning environment requires intentional design and formal education. Objective To describe the integration of professionalism in the learning environment through formal education and programming and report feasibility and acceptability data.

Methods The Center for Professionalism (Center) was developed in 2013 to align with the learning and clinical environments of our academic medical center. Primary drivers of a culture of professionalism were identified through input from …