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Enhancement Of Antimicrobial Activity Of Truncated Cecropin B Peptides With The Substitution Of Tryptophan Residues, Sarah Smith, Christopher Feudale, Josephina R. Vermillion, Joseph Feudale, Joshua Do, Sabrina Arroyo, Juan Barrera, Madeleine Whitsitt, Marion Duval, Colby Grames, Bret Hatzinger, Makenzie Hilling, Tia Kean, Jasayle Rivera, Mia Shum, Hannah Zyra, David Rovnyak, Moria C. Chambers Nov 2025

Enhancement Of Antimicrobial Activity Of Truncated Cecropin B Peptides With The Substitution Of Tryptophan Residues, Sarah Smith, Christopher Feudale, Josephina R. Vermillion, Joseph Feudale, Joshua Do, Sabrina Arroyo, Juan Barrera, Madeleine Whitsitt, Marion Duval, Colby Grames, Bret Hatzinger, Makenzie Hilling, Tia Kean, Jasayle Rivera, Mia Shum, Hannah Zyra, David Rovnyak, Moria C. Chambers

Faculty Journal Articles

Cecropins are a class of antimicrobial peptides (AMPs) expressed by insects that have broad-spectrum antimicrobial activity and low cytotoxicity. However, cecropins are also long (40–45 amino acids) peptides, making their adaptation for therapeutic use challenging. Here, we present a series of 16 amino acid-long peptides derived from cecropin B from Drosophila melanogaster. The native truncated peptide is cationic and expected to form an amphipathic α-helix, but does not have antimicrobial activity. The incorporation of two Trp residues, depending on the position in the peptide backbone, results in antibacterial activity compa-rable to that of full-length cecropin B against the gram-negative bacteria …


The Battle Over Water Fluoridation Comes To New York City: Organized Dentistry Is Quick To Respond To Ill-Conceived Effort To End 60-Year Practice And Vows To Stay With It Until The Threat Passes., Lance Plunkett Jd, Llm Nov 2025

The Battle Over Water Fluoridation Comes To New York City: Organized Dentistry Is Quick To Respond To Ill-Conceived Effort To End 60-Year Practice And Vows To Stay With It Until The Threat Passes., Lance Plunkett Jd, Llm

The New York State Dental Journal

Water fluoridation has been experiencing its woes lately, beset by an adverse court decision, questionable science, collapsing federal public health priorities and public suspicion often fueled by hysteria. Against all this, New York City stood strong as a pioneering large municipality safely fluoridating its water since 1965 for the benefit of the public and reducing dental caries significantly over decades.


Female Genital Mutilation And Its Effects Among Women Of Reproductive Age In Kenya: Insights From Kenya Demographic And Health Survey 2022, Jovinary Adam, Joyce Jebet Nov 2025

Female Genital Mutilation And Its Effects Among Women Of Reproductive Age In Kenya: Insights From Kenya Demographic And Health Survey 2022, Jovinary Adam, Joyce Jebet

School of Nursing & Midwifery, East Africa

Introduction Female genital mutilation (FGM) is a significant public health issue rooted in cultural traditions, affecting millions of women and girls. In Kenya, the practice is prevalent in various ethnic groups and is often associated with social and economic pressures.

Objective To determine the prevalence of FGM, the factors associated with FGM, and its effects among women of reproductive age in Kenya.

Methods This study used secondary data of a total 16,716 weighted women of reproductive age drawn from the 2022 Kenya Demographic and Health Survey. The study used the “svy” command in Stata to assign the sample weight. Multivariable …


Cabotegravir And Rilpivirine For Treatment Of Hiv Infection In Africa: Week 96 Results From The Phase 3b Randomized, Open-Label, Noninferiority Cares Trial, Cissy Kityo, Ivan Mambule, Joseph Musaazi, Simiso Sokhela, Henry Mugerwa, Henry Mugerwa, Ibrahim Yawe, Fiona Cresswell, Abraham Siika, Reena Shah Nov 2025

Cabotegravir And Rilpivirine For Treatment Of Hiv Infection In Africa: Week 96 Results From The Phase 3b Randomized, Open-Label, Noninferiority Cares Trial, Cissy Kityo, Ivan Mambule, Joseph Musaazi, Simiso Sokhela, Henry Mugerwa, Henry Mugerwa, Ibrahim Yawe, Fiona Cresswell, Abraham Siika, Reena Shah

Internal Medicine, East Africa

Evaluation of the durable efficacy and safety of long-acting injectable therapy for HIV is needed in African populations. In a multicenter, open-label phase 3b trial, 512 African adults with HIV-1, stable on first-line oral therapy, with screening plasma viral load (VL) < 50 copies ml−1 and without past virologic failure were randomized (1:1) to continue oral therapy or switch to cabotegravir (600 mg) and rilpivirine (900 mg) intramuscular injections every 8 weeks (optional 4-week oral lead-in). VL was monitored every 24 weeks. Here the primary outcome for our analysis up to 96 weeks was VL < 50 copies ml−1, using the Food and Drug Administration snapshot algorithm (noninferiority margin 10%) in the intention-to-treat exposed population. At 96 weeks, 247/255 (97%) in the long-acting group and 250/257 (97%) in the oral therapy group had VL < 50 copies ml−1 (difference −0.4%; 95% confidence interval −3.1% to 2.0%), demonstrating noninferiority. Adverse events of severity grade ≥3 occurred in 41/255 (16%) in the long-acting group and in 22/257 (9%) in the oral therapy group, mostly considered unrelated to the study drug; only one treatment-related adverse event in the long-acting group led to a decision to discontinue treatment (injection-site abscess). Cabotegravir and rilpivirine long-acting therapy produced durable virologic suppression, met the prespecified noninferiority endpoint compared with oral therapy and demonstrated an acceptable safety and tolerability profile. Long-acting therapy may be considered for use in African treatment programs. PACTR registration: 202104874490818.


Implementation And Evaluation Of Infection Prevention And Control Training In Sub-Saharan Africa, David Odada, James Ndai, Ruth Thuku, Philip Adebayo Nov 2025

Implementation And Evaluation Of Infection Prevention And Control Training In Sub-Saharan Africa, David Odada, James Ndai, Ruth Thuku, Philip Adebayo

Internal Medicine, East Africa

No abstract provided.


Systemic Racism In Canadian Healthcare: A Policy And Equity Analysis, Kola Adegoke, Abimbola Adegoke, Deborah Dawodu, Temitope Kayode Nov 2025

Systemic Racism In Canadian Healthcare: A Policy And Equity Analysis, Kola Adegoke, Abimbola Adegoke, Deborah Dawodu, Temitope Kayode

Health & Biomedical Sciences Faculty Publications

Background: In Canadian healthcare, systemic racism subverts commitment to universal coverage by building inequities into the system of governance, regulation, and clinical practice. Although racial disparities have been documented, little attention has been paid to how institutional structures perpetuate these inequities.

Objective: This study critically examines the organizational aspects of racism in the Canadian healthcare system. It aims to identify structural obstacles faced by racialized patients and foreign-trained physicians and to provide policy recommendations grounded in evidence.

Methods: The authors employed a narrative review framework for qualitative analysis of documents. Public inquiries (eg, Truth and Reconciliation Commission and Viens Report), …


Structural-Level Stigma Within Emergency Food Assistance Programs: Perspectives From Delaware And Pennsylvania, Mckenna M Halverson, Evyn Y Appel, Valerie A Earnshaw, Raquelle Powell, Grace Sands, Nithila Chrisostam, Shreela V Sharma, Allison Karpyn Nov 2025

Structural-Level Stigma Within Emergency Food Assistance Programs: Perspectives From Delaware And Pennsylvania, Mckenna M Halverson, Evyn Y Appel, Valerie A Earnshaw, Raquelle Powell, Grace Sands, Nithila Chrisostam, Shreela V Sharma, Allison Karpyn

Faculty, Staff and Student Publications

To characterize the ways in which structural stigma manifests within emergency food program settings.

Methods : We conducted 30-minute semi-structured interviews with 18 emergency food program clients in Pennsylvania and Delaware between August and December of 2024. The discussion guide included open-ended questions regarding client experiences of structural stigma, with an emphasis on issues of access and quality. Demographic data and household food insecurity (Hunger Vital Sign) were also captured. A hybrid inductive and deductive coding approach was used to analyze the data.

Results : Structural stigma is a persistent issue within emergency food program environments, impacting both participant access …


Exploring The Future Of Occupational Safety Research: A Strategic Foresight Approach, Jessica M K Streit, Sarah A Felknor, Nicole T Edwards, John J Howard Nov 2025

Exploring The Future Of Occupational Safety Research: A Strategic Foresight Approach, Jessica M K Streit, Sarah A Felknor, Nicole T Edwards, John J Howard

Faculty, Staff and Student Publications

A team from the U.S. National Institute for Occupational Safety and Health conducted a strategic foresight project to explore the future of occupational safety research (OSR). Data collected via systematic horizon scanning and key informant interviews were synthesized into six drivers of OSR change: (1) technological advancement, (2) partnerships and public trust, (3) prioritizing research investments, (4) safety and health integration, (5) data and science quality, and (6) worker protections. These drivers served as the basis for envisioning four potential OSR futures. Analysis of the resulting scenarios identified opportunities to enhance and advance OSR methods and approaches, innovation, systems thinking, …


Mitigating Food Insecurity-Related Stigma: A Review Of Intervention Strategies, Evyn Y Appel, Mckenna M Halverson, Valerie A Earnshaw, Tania Cruz Cordero, Maya Rozin, Raquelle Powell, Grace Sands, Nithila Chrisostam, Sarah E Katz, Shreela V Sharma, Allison Karpyn Nov 2025

Mitigating Food Insecurity-Related Stigma: A Review Of Intervention Strategies, Evyn Y Appel, Mckenna M Halverson, Valerie A Earnshaw, Tania Cruz Cordero, Maya Rozin, Raquelle Powell, Grace Sands, Nithila Chrisostam, Sarah E Katz, Shreela V Sharma, Allison Karpyn

Faculty, Staff and Student Publications

Objective: To characterize intervention strategies addressing food insecurity-related stigma implemented in federal nutrition programs (e.g. SNAP, WIC) and emergency food programs (e.g. food pantries, food cupboards) within high income countries.

Methods: Six databases (PubMed, PsychINFO, Web of Science, CINAHL, Sociological Abstracts, Dissertations and Theses Global) and the Internet were searched through September 2024. Data on study characteristics and stigma intervention characteristics were extracted with a structured template. Descriptive statistics and thematic analysis were used.

Results: The review found 46 intervention strategies across 18 articles. The majority of articles were based in the United States (89.9%) with the remaining portion from …


Stomach Cancer Incidence In Asians As Compared To Other Ethnic Populations Over Time From 2000 To 2021 In Seer Areas Of The United States, Zhuoyun Li, Xianglin L Du Nov 2025

Stomach Cancer Incidence In Asians As Compared To Other Ethnic Populations Over Time From 2000 To 2021 In Seer Areas Of The United States, Zhuoyun Li, Xianglin L Du

Faculty, Staff and Student Publications

Background: Stomach cancer is the fourth leading cause of cancer-related deaths globally, but its late-stage detection and its lack of early symptoms are still the main challenges ahead. Limited research has focused on detailed racial and ethnic disparities in stomach cancer incidence within the United States. This study aims to address these gaps by analyzing age-adjusted stomach cancer incidence rates from 2000 to 2021.

Methods: Using data from the US Surveillance, Epidemiology, and End Results (SEER) program (2000-2021), we identified a cohort of 138,628 individuals diagnosed with incident stomach cancer at age ≥ 20. Both crude and age-adjusted models were …


Estimating Daily Air Quality Exposure Of The Aging And Dementia Population, Wan-Tai Michael Au-Yeung, Moiz Usmani, Ryan Ramphul, Chao-Yi Wu, Hiroko Dodge, Joel Steele, Zachary Beattie, Jeffrey Kaye Nov 2025

Estimating Daily Air Quality Exposure Of The Aging And Dementia Population, Wan-Tai Michael Au-Yeung, Moiz Usmani, Ryan Ramphul, Chao-Yi Wu, Hiroko Dodge, Joel Steele, Zachary Beattie, Jeffrey Kaye

Faculty, Staff and Student Publications

Background

To understand the effect of air quality on cognition, air quality measurements should reflect real-world exposure. Currently, air quality exposure is derived from outdoor air quality monitors despite older adults spending most of their time indoors.

Objective

To examine if there are discrepancies between indoor particulate matter 2.5 (PM2.5) at older adults’ personal residences, PM2.5 levels measured with nearest outdoor public air monitors, and remotely accessed gridded ensemble air quality data.

Methods

PM2.5 levels collected in older adults’ residences, collected from the nearest outdoor public air quality monitors and ensemble data from Hazardous Air Quality Ensemble System (HAQES) were …


Factors Associated With Cervical Cancer Screening Among Women Attending Maternal Child Health Clinics In Kenya, Loise Nthambi, Marleen Temmerman, William Macharia, Joshua Nyagol, Sophia Mogere, Jillian Neary, Edward Nyabs, Janet Itindi, Agnes Langat, Evelyn Wangari Nov 2025

Factors Associated With Cervical Cancer Screening Among Women Attending Maternal Child Health Clinics In Kenya, Loise Nthambi, Marleen Temmerman, William Macharia, Joshua Nyagol, Sophia Mogere, Jillian Neary, Edward Nyabs, Janet Itindi, Agnes Langat, Evelyn Wangari

Centre of Excellence in Women and Child Health

Background Cervical cancer is the second leading malignancy in incidence among women in sub-Saharan Africa. Early detection through screening and treatment of pre-cancerous cervical lesions is paramount in preventing cervical cancer. We sought to examine factors associated with ever being screened for cervical cancer among women attending infant immunization clinics in Kenya.

Methods We conducted secondary data analysis from a cross-sectional survey that enrolled mother-infant pairs attending 55 infant immunization clinics in Kenya between 2018 and 2019. Clinics were selected from high and medium/low HIV-burden counties using probability-proportionate-to-size sampling. The primary outcome was self-reported cervical cancer screening. To align with …


Women’S Unique Health Needs And The Sustainable Development Goals: A Meeting Report From The 79th United Nations General Assembly Science Summit, Irene Aninye, Sarah Chew, Nicole Althaus, Michele Barry, Ru-Fong Cheng, Carolyn Harris, Eleanor Nwadinobi, Beth Battaglino, Aisha Brooks, Marleen Temmerman Nov 2025

Women’S Unique Health Needs And The Sustainable Development Goals: A Meeting Report From The 79th United Nations General Assembly Science Summit, Irene Aninye, Sarah Chew, Nicole Althaus, Michele Barry, Ru-Fong Cheng, Carolyn Harris, Eleanor Nwadinobi, Beth Battaglino, Aisha Brooks, Marleen Temmerman

Centre of Excellence in Women and Child Health

Biological sex, hormones, and gender uniquely affect health and disease, often resulting in disparities for women across the lifespan and from different racial and ethnic groups, geographical locations, and socioeconomic backgrounds. Without intentional investment and infrastructure to support good health and wellbeing for women, half of the world’s population remains vulnerable to preventable morbidity and mortality. The Society for Women’s Health Research and ECHAlliance–The Global Health Connector convened a women’s health program as part of the 10th Annual Science Summit during the United Nations 79th General Assembly. This hybrid event was held in New York, NY, (USA) and virtually in …


Nonsteroidal Anti-Inflammatory Drug Use And Acute Kidney Injury In Nephrectomies: A Retrospective Propensity Score-Matched Cohort Study, Chun-Yan Ye, Long-Yan Li, Min-Jing Yang, Xing-Yang Liu, Ning Luo, Jing-Han Wu, Yu-Jie Xiao, Daniel I Sessler, E Wang Nov 2025

Nonsteroidal Anti-Inflammatory Drug Use And Acute Kidney Injury In Nephrectomies: A Retrospective Propensity Score-Matched Cohort Study, Chun-Yan Ye, Long-Yan Li, Min-Jing Yang, Xing-Yang Liu, Ning Luo, Jing-Han Wu, Yu-Jie Xiao, Daniel I Sessler, E Wang

Faculty, Staff and Student Publications

Introduction: Nonsteroidal anti-inflammatory drugs (NSAID) are analgesic and spare opioids, but it remains unclear whether perioperative NSAID use worsens renal function after nephrectomy. We therefore tested the hypothesis that perioperative use of NSAID is associated with acute kidney injury (AKI) after nephrectomy surgery.

Methods: This retrospective cohort study included patients ≥18 years old who had partial or radical nephrectomies. Patients who were given intravenous NSAIDs for postoperative analgesia were defined as one group, whereas reference patients did not use any NSAIDs. The primary outcome was the occurrence of postoperative acute kidney injury (AKI), as defined by the Kidney Disease: Improving …


Aligning Surgical Decisions With Older Adults' Outcome Goals, Aanand D Naik, Margaret L Schwarze, Jack Banks, Suha Soni, Salman A Arain, Parag Goyal, Daniel D Matlock, Rachel Lampert, Mary E Tinetti Nov 2025

Aligning Surgical Decisions With Older Adults' Outcome Goals, Aanand D Naik, Margaret L Schwarze, Jack Banks, Suha Soni, Salman A Arain, Parag Goyal, Daniel D Matlock, Rachel Lampert, Mary E Tinetti

Faculty, Staff and Student Publications

No abstract provided.


Evaluating Interactions Between National And Subnational Governments In The Czech Republic For Physical Activity Policy Development And Implementation, Michael Pratt, Juliana Mejía-Grueso, Eugen Resendiz, Aleš Jakubec, Zdeněk Hamřík, Deborah Salvo, Andrea Ramírez Varela, Josef Mitáš Nov 2025

Evaluating Interactions Between National And Subnational Governments In The Czech Republic For Physical Activity Policy Development And Implementation, Michael Pratt, Juliana Mejía-Grueso, Eugen Resendiz, Aleš Jakubec, Zdeněk Hamřík, Deborah Salvo, Andrea Ramírez Varela, Josef Mitáš

Faculty, Staff and Student Publications

Background: Most countries now have physical activity (PA) policies but translating them into action at national and subnational levels remains poor. To better understand the disconnect, the "Interaction between National and Local Government Levels in Development and Implementation of Physical Activity Policies Tool" (INTEGRATE-PA-Pol) was developed by the Global Observatory for Physical Activity (GoPA!).

Methods: The Czech Republic was chosen as a European pilot site based on existing research capacity and relationships. The INTEGRATE-PA-Pol tool was translated and adapted for use in the country. This questionnaire-based tool has 8 components assessing government levels, political system, and sectors across the 5 …


A Longitudinal Study Of The Association Between E-Cigarette Use Contexts And Alcohol Use Problems Among College Students, Tzung-Shiang Ou, Anne Buu, James J Yang, Hsien-Chang Lin Nov 2025

A Longitudinal Study Of The Association Between E-Cigarette Use Contexts And Alcohol Use Problems Among College Students, Tzung-Shiang Ou, Anne Buu, James J Yang, Hsien-Chang Lin

Faculty, Staff and Student Publications

Objective: Previous studies had explored the associations between e-cigarette use and alcohol use problems, yet they did not fully consider e-cigarette use contexts. This longitudinal study conducted a prospective examination of e-cigarette use contexts and alcohol use problems among college students.

Participants: College e-cigarette users at three public universities from Fall 2019 to Fall 2020 were included (N = 377).

Methods: A linear mixed model with a random intercept and random slope was employed to examine the longitudinal associations.

Results: Higher frequencies of e-cigarette use (β = 0.38, p < 0.001), being hooked on e-cigarettes (β = 0.96, p < 0.01), using e-cigarettes for socializing purposes (β = 0.58, p < 0.05), and more occasions of co-using e-cigarettes with alcohol (β …


Association Of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A Topmed Multiancestry Analysis, Naman S Shetty, Mokshad Gaonkar, Akhil Pampana, Nirav Patel, April P Carson, Bernhard Haring, Bruce M Psaty, Charles Kooperberg, Eric Boerwinkle, Jerome I Rotter, João A C Lima, Jorge R Kizer, Lisa Warsinger Martin, Kent D Taylor, Michael E Hall, Myriam Fornage, Sanjiv J Shah, Stephen S Rich, Ramachandran S Vasan, Rami Nassir, Peng Li, Garima Arora, Pankaj Arora Nov 2025

Association Of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A Topmed Multiancestry Analysis, Naman S Shetty, Mokshad Gaonkar, Akhil Pampana, Nirav Patel, April P Carson, Bernhard Haring, Bruce M Psaty, Charles Kooperberg, Eric Boerwinkle, Jerome I Rotter, João A C Lima, Jorge R Kizer, Lisa Warsinger Martin, Kent D Taylor, Michael E Hall, Myriam Fornage, Sanjiv J Shah, Stephen S Rich, Ramachandran S Vasan, Rami Nassir, Peng Li, Garima Arora, Pankaj Arora

Faculty, Staff and Student Publications

OBJECTIVE: To evaluate the prevalence of pathogenic/likely pathogenic inherited cardiomyopathy variants and their association with heart failure in the (TOPMed) TransOmic for Precision of Medicine cohorts.

METHODS: A retrospective cohort study using the TOPMed cohorts, including multi-ancestry US adults (≥18 years of age) with sequencing data, was conducted. Pathogenic/likely pathogenic inherited cardiomyopathy variant carrier status was determined based on ClinVar variants classified with two or more stars of evidence. Individuals without pathogenic/likely pathogenic variants were used as the reference group. The primary outcome was heart failure , adjudicated by an expert panel. Cox proportional hazards models assessed the association between …


N Y State Dent J November 2025 Nov 2025

N Y State Dent J November 2025

The New York State Dental Journal

In the November 2025 issue, the reader will find the following feature articles:

  • "Attitudes of New York State Pediatric Dentists Toward Treating Hasidic Patients"
  • "A Qualitative Assessment of the Role of Dental Specialists in U.S. Opioid Epidemic"
  • "Revolutionizing Dental Operatories"
  • "An Update on Non-Cigarette Nicotine-Containing Products and the Periodontal Patient"

This issue includes regular columns with regional news impacting the New York membership including: editorial and legal columns, association activities, component news, continuing education opportunities, and classifieds.


State Of Menstrual Health Education In 2024: Content Analysis Of Us K-12 Public School Education Standards, Emily Richardson, Sarah Bemis, Page Dobbs, Hope Ballentine, Shristi Bhochhibhoya, Victor Kwaku Akakpo, Kylie Lovett Nov 2025

State Of Menstrual Health Education In 2024: Content Analysis Of Us K-12 Public School Education Standards, Emily Richardson, Sarah Bemis, Page Dobbs, Hope Ballentine, Shristi Bhochhibhoya, Victor Kwaku Akakpo, Kylie Lovett

The Eleanor Mann School of Nursing Faculty Publications and Presentations

Background: Exploratory study aiming to assess the prevalence and time of initiation of menstrual health curriculum in US public school education standards by state. Methods: US public school Kindergarten-12th grade education standards from each state's Department of Education website, including D.C. (n = 51), were searched for menstruation, menstrual, menses, menopause, period, menarche, reproduction, puberty, and growth and development. Results25.5% (n = 13) of US education standards include menstruation. Of these, constructs of comprehensive menstrual health were recorded including abnormal menstruation (n = 6), menstrual hygiene (n = 6), menopause (n = 1), and stigma (n = 7). Education is …


Centrally Inserted Central Catheter Placement Using A Novel, Handheld, Image-Guided, Robotic Device: Results Of Initial Feasibility Trial In Patients, James P Herlihy, William E Cohn, Adrian Ebner Nov 2025

Centrally Inserted Central Catheter Placement Using A Novel, Handheld, Image-Guided, Robotic Device: Results Of Initial Feasibility Trial In Patients, James P Herlihy, William E Cohn, Adrian Ebner

Faculty, Staff and Students Publications

Background: Central venous access devices (CVADs) are an essential and widely used tool for the treatment of the critically ill, patients undergoing major surgery, and for many patients requiring hemodialysis. Automation of centrally inserted central catheters (CICCs) could potentially make CVAD placement safer, more effective, and more accessible. A new device that uses ultrasound image-guided, robotic needle placement, in addition to traditional Seldinger technique, to place a CICC is described.

Objective: The device was used in a small, first-in-human, trial for placing non-tunneled hemodialysis catheters (NTHDCs), in order to determine feasibility of clinical use.

Methods: Consecutive patients requiring a NTHDC, …


Pathogenic Xpo1 Variants Cause A Dominant Neurodevelopmental Disorder, Amber S E Van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Marketa Vlckova, Sarka Bendova, Kristin G Monaghan, Lisa M Dyer, Yanmin Chen, Deanna Alexis Carere, Emma A M Te Bogt, Heather Fisher, Angela E Scheuerle, Stephanie Riley, Mahim Jain, Weiyi Mu, Joann N Bodurtha, Albertien M Van Eerde, Marijn F Stokman, Nicola Longo, Meena Balasubramanian, Michael Spiller, Gregory Costain, Charlotte Von Der Lippe, Kristian Tveten, Marianne Jortveit, Øystein L Holla, Bertrand Isidor, Benjamin Cogné, Kevin E Glinton, Blake Vuocolo, Roberta Ann Sierra, Brad Angle, Kelly Bontempo, Klaas Koop, Rachel Rabin, John Pappas, David A Staffenberg, Pascal Joset, Peter Miny, Isabel Filges, Abdulrazak Alali, Kara Vitalone, Jill A Rosenfeld, Weimin Bi, Samuel Bradbrook, Renee Perrier, Subhadra Ramanathan, June-Anne Gold, María Palomares Bralo, María Ángeles Gómez-Cano, Ann Haskins Olney, Shelly Nielsen, Alban Ziegler, Dominique Bonneau, Clément Prouteau, Ange-Line Bruel, Charlotte Caille-Benigni, Laëtitia Lambert, Andrea C Yu, Nathaniel H Robin, Dana Goodloe, Jan Fischer, Joseph Porrmann, Yvonne D Hennig, Rami Abou Jamra, Isabella Herman, Ivy R Johnson, Lucas Hérissant, Guillaume Jouret, Koen L I Van Gassen, Ellen Van Binsbergen, Bert Van Der Zwaag, Alwin Kamermans, Renske Oegema, Zdenek Sedlacek, Michaela Fenckova, Richard H Van Jaarsveld Nov 2025

Pathogenic Xpo1 Variants Cause A Dominant Neurodevelopmental Disorder, Amber S E Van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Marketa Vlckova, Sarka Bendova, Kristin G Monaghan, Lisa M Dyer, Yanmin Chen, Deanna Alexis Carere, Emma A M Te Bogt, Heather Fisher, Angela E Scheuerle, Stephanie Riley, Mahim Jain, Weiyi Mu, Joann N Bodurtha, Albertien M Van Eerde, Marijn F Stokman, Nicola Longo, Meena Balasubramanian, Michael Spiller, Gregory Costain, Charlotte Von Der Lippe, Kristian Tveten, Marianne Jortveit, Øystein L Holla, Bertrand Isidor, Benjamin Cogné, Kevin E Glinton, Blake Vuocolo, Roberta Ann Sierra, Brad Angle, Kelly Bontempo, Klaas Koop, Rachel Rabin, John Pappas, David A Staffenberg, Pascal Joset, Peter Miny, Isabel Filges, Abdulrazak Alali, Kara Vitalone, Jill A Rosenfeld, Weimin Bi, Samuel Bradbrook, Renee Perrier, Subhadra Ramanathan, June-Anne Gold, María Palomares Bralo, María Ángeles Gómez-Cano, Ann Haskins Olney, Shelly Nielsen, Alban Ziegler, Dominique Bonneau, Clément Prouteau, Ange-Line Bruel, Charlotte Caille-Benigni, Laëtitia Lambert, Andrea C Yu, Nathaniel H Robin, Dana Goodloe, Jan Fischer, Joseph Porrmann, Yvonne D Hennig, Rami Abou Jamra, Isabella Herman, Ivy R Johnson, Lucas Hérissant, Guillaume Jouret, Koen L I Van Gassen, Ellen Van Binsbergen, Bert Van Der Zwaag, Alwin Kamermans, Renske Oegema, Zdenek Sedlacek, Michaela Fenckova, Richard H Van Jaarsveld

Faculty, Staff and Students Publications

Purpose: XPO1 functions in key cellular processes, including nucleo-cytoplasmic export and mitosis. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome; however, no monogenic XPO1-related disorder has been described to date.

Methods: We collected clinical data of individuals with de novo XPO1 variants through online matchmaking. We used Drosophila to study XPO1 function in development and habituation learning.

Results: A total of 22 individuals met the criteria to be included in the main study cohort. Of these, half have putative loss-of-function variants, and half have coding variants (10 missense and 1 in-frame deletion variant). We …


Glycerol-3-Phosphate Activates Chrebp, Fgf21 Transcription And Lipogenesis In Citrin Deficiency, Vinod Tiwari, Byungchang Jin, Olivia Sun, Edwin D J Lopez Gonzalez, Min-Hsuan Chen, Xiwei Wu, Hardik Shah, Andrew Zhang, Mark A Herman, Cassandra N Spracklen, Russell P Goodman, Charles Brenner Nov 2025

Glycerol-3-Phosphate Activates Chrebp, Fgf21 Transcription And Lipogenesis In Citrin Deficiency, Vinod Tiwari, Byungchang Jin, Olivia Sun, Edwin D J Lopez Gonzalez, Min-Hsuan Chen, Xiwei Wu, Hardik Shah, Andrew Zhang, Mark A Herman, Cassandra N Spracklen, Russell P Goodman, Charles Brenner

Faculty, Staff and Students Publications

Citrin deficiency (CD) is caused by the inactivation of SLC25A13, a mitochondrial membrane protein required to move electrons from cytosolic NADH to the mitochondrial matrix in hepatocytes. People with CD do not like sweets. Here we show that SLC25A13 loss causes the accumulation of glycerol-3-phosphate (G3P), which activates the carbohydrate response element-binding protein (ChREBP) to transcribe FGF21, which acts in the brain to restrain intake of sweets and alcohol and to transcribe key genes driving lipogenesis. Mouse and human data suggest that G3P-ChREBP is a mechanistic component of the Randle Cycle that contributes to metabolic-dysfunction-associated steatotic liver disease and forms …


Using Video Ethnography And Stimulated Recall Interviews To Describe The Diagnostic Process In The Emergency Department, Milisa Manojlovich, Caitlin Cassady, Sarah J Parker, Ellie Davis, Charlotte Ahr, David Ryamukuru, Anna Wang, Kalyan Pasupathy, Hardeep Singh, Prashant Mahajan Nov 2025

Using Video Ethnography And Stimulated Recall Interviews To Describe The Diagnostic Process In The Emergency Department, Milisa Manojlovich, Caitlin Cassady, Sarah J Parker, Ellie Davis, Charlotte Ahr, David Ryamukuru, Anna Wang, Kalyan Pasupathy, Hardeep Singh, Prashant Mahajan

Faculty, Staff and Students Publications

Objectives: Understanding how physicians make diagnoses is challenging because cognitive processes are unobservable and partly unconscious, making it difficult for physicians to describe how they arrived at a diagnosis. Physicians who work in emergency departments (EDs) are especially vulnerable to making diagnostic errors because the ED is a fast-paced, dynamic setting where complex decision-making occurs under severe time, information, and resource constraints. The purpose of our study was to describe how the diagnostic process evolves for ED clinicians in both pediatric and adult ED settings.

Methods: We used a qualitative, video ethnography study design to capture in situ, real-time ED …


Real-World Effectiveness And Safety Of Upadacitinib In Crohn's Disease: A Multicenter Study, Jalpa Devi, Anthony Xu, Molly Stone, Anish Patel, Abdul Khan, Nikhil Reddy, Jeremy Klein, Navreet Chowla, Caroline Benson, Bryan Christopher Luu, Katherine Huang, Fnu Jaiprada, Marc Fenster, Ryan Ungaro, Joel Pekow, Amanda M Johnson, Andres J Yarur, Richa Shukla, Julia Huecker, Shrinivas Bishu, Reboot Ibd Consortium, Parakkal Deepak Nov 2025

Real-World Effectiveness And Safety Of Upadacitinib In Crohn's Disease: A Multicenter Study, Jalpa Devi, Anthony Xu, Molly Stone, Anish Patel, Abdul Khan, Nikhil Reddy, Jeremy Klein, Navreet Chowla, Caroline Benson, Bryan Christopher Luu, Katherine Huang, Fnu Jaiprada, Marc Fenster, Ryan Ungaro, Joel Pekow, Amanda M Johnson, Andres J Yarur, Richa Shukla, Julia Huecker, Shrinivas Bishu, Reboot Ibd Consortium, Parakkal Deepak

Faculty, Staff and Students Publications

Background & aims: We aimed to describe the real-world effectiveness and safety of upadacitinib (UPA), an oral Janus kinase 1 inhibitor, in patients with Crohn's disease (CD).

Methods: A retrospective analysis was conducted across 9 centers in the United States, focusing on adults with CD treated with UPA, 45 mg, as induction therapy for active luminal disease. The coprimary end points were clinical remission at 12 weeks (Harvey Bradshaw Index ≤4 or absence of symptoms on physician's global assessment) and endoscopic remission at 6 months (Simplified Endoscopic Mucosal Assessment for Crohn's Disease score of 0-1 or absence of ulcers). Secondary …


Foreword: Addressing Diagnostic Error: The First 10 Years, Mark L Graber, Edward P Hoffer, Hardeep Singh Nov 2025

Foreword: Addressing Diagnostic Error: The First 10 Years, Mark L Graber, Edward P Hoffer, Hardeep Singh

Faculty, Staff and Students Publications

No abstract provided.


Two Decades Of Diagnostic Safety Research: Advances, Challenges, And Next Steps, Sundas Khan, Andrea Bradford, Christina L Cifra, Hardeep Singh Nov 2025

Two Decades Of Diagnostic Safety Research: Advances, Challenges, And Next Steps, Sundas Khan, Andrea Bradford, Christina L Cifra, Hardeep Singh

Faculty, Staff and Students Publications

Since the National Academies of Sciences, Engineering, and Medicine (NASEM) report Improving Diagnosis in Health Care, various research efforts have accelerated progress to understand and improve diagnostic safety. In this opinion piece, we summarize two decades of progress in methods for identifying and learning from diagnostic errors and provide recommendations for future research. Multiple methods have been used to quantify diagnostic errors in various clinical settings, thereby facilitating a deeper understanding of the nature and magnitude of the problem and enabling studies of contributing factors. However, the use of standardized definitions of a diagnostic error and/or diagnostic safety event, …


The Impact Of Social Determinants Of Health On Outcomes Of Brexucabtagene Autoleucel In Adults With Relapsed/Refractory B-Cell Acute Lymphoblastic Leukemia, Timothy E O'Connor, Chenyu Lin, Gregory W Roloff, Amy Zhang, Katharine Miller, Ibrahim Aldoss, Noam E Kopmar, Simone E Dekker, Vishal K Gupta, Nikeshan Jeyakumar, Ibrahim N Muhsen, Yannis Valtis, Naveed Ahmed, Katherine Sutherland, Kaitlyn C Dykes, Mohamed Ahmed, Evan Chen, Hector Zambrano, Danielle Bradshaw, Santiago Mercadal, Marc Schwartz, Sean Tracy, Matthew P Connor, Michal Kubiak, Akash Mukherjee, Navneet Majhail, Minoo Battiwalla, Luke Mountjoy, Shahbaz A Malik, John Mathews, Paul Shaughnessy, Betsy Blunk, Aaron C Logan, Abdullah Ladha, Anjali S Advani, Maryann Stefan, Caitlin Guzowski, Rasmus T Hoeg, Talal Hilal, Jozal Moore, Kristen M O'Dwyer, Laquisa C Hill, Joshua Sasine, Caspian Oliai, Melhem M Solh, Catherine J Lee, Vamsi K Kota, Divya Koura, Muthu V Kumaran, Jessica T Leonard, Noelle V Frey, Jae H Park, Marlise R Luskin, Veronika Bachanova, Ahmed Galal, Vinod Pullarkat, Michael R Bishop, Wendy Stock, Ryan D Cassaday, Bijal D Shah, Rawan Faramand, Lori S Muffly, Stephanie B Tsai, Bhagirathbhai Dholaria Nov 2025

The Impact Of Social Determinants Of Health On Outcomes Of Brexucabtagene Autoleucel In Adults With Relapsed/Refractory B-Cell Acute Lymphoblastic Leukemia, Timothy E O'Connor, Chenyu Lin, Gregory W Roloff, Amy Zhang, Katharine Miller, Ibrahim Aldoss, Noam E Kopmar, Simone E Dekker, Vishal K Gupta, Nikeshan Jeyakumar, Ibrahim N Muhsen, Yannis Valtis, Naveed Ahmed, Katherine Sutherland, Kaitlyn C Dykes, Mohamed Ahmed, Evan Chen, Hector Zambrano, Danielle Bradshaw, Santiago Mercadal, Marc Schwartz, Sean Tracy, Matthew P Connor, Michal Kubiak, Akash Mukherjee, Navneet Majhail, Minoo Battiwalla, Luke Mountjoy, Shahbaz A Malik, John Mathews, Paul Shaughnessy, Betsy Blunk, Aaron C Logan, Abdullah Ladha, Anjali S Advani, Maryann Stefan, Caitlin Guzowski, Rasmus T Hoeg, Talal Hilal, Jozal Moore, Kristen M O'Dwyer, Laquisa C Hill, Joshua Sasine, Caspian Oliai, Melhem M Solh, Catherine J Lee, Vamsi K Kota, Divya Koura, Muthu V Kumaran, Jessica T Leonard, Noelle V Frey, Jae H Park, Marlise R Luskin, Veronika Bachanova, Ahmed Galal, Vinod Pullarkat, Michael R Bishop, Wendy Stock, Ryan D Cassaday, Bijal D Shah, Rawan Faramand, Lori S Muffly, Stephanie B Tsai, Bhagirathbhai Dholaria

Faculty, Staff and Students Publications

Brexucabtagene autoleucel (brexu-cel) is a chimeric antigen receptor T (CAR T) cell therapy approved for adults with relapsed or refractory (R/R) B-cell acute lymphoblastic leukemia (B-ALL). We studied the impact of social determinants of health (SDoH) on outcomes of adults with B-ALL receiving brexu-cel. This retrospective analysis included adults (≥18 years) with R/R B-ALL treated with brexu-cel between 2021 and 2023. Cox proportional hazards models evaluated the association of race, ethnicity, and SDoH with progression-free survival (PFS) and overall survival (OS). 189 patients received brexu-cel and 57% were male. 55% were non-Hispanic White, 30% Hispanic, 7% non-Hispanic Black, 6% Asian/Pacific …


Dysregulated Mitochondrial Energy Metabolism Drives The Progression Of Mucosal Field Effects To Invasive Bladder Cancer, Sangkyou Lee, Sung Yun Jung, Pawel Kuś, Jolanta Bondaruk, June Goo Lee, Roman Jaksik, Nagireddy Putluri, Khanh N Dinh, David Cogdell, Huiqin Chen, Yishan Wang, Jiansong Chen, Neema Navai, Colin Dinney, Cathy Mendelsohn, David Mcconkey, Richard R Behringer, Charles C Guo, Peng Wei, Marek Kimmel, Bogdan Czerniak Nov 2025

Dysregulated Mitochondrial Energy Metabolism Drives The Progression Of Mucosal Field Effects To Invasive Bladder Cancer, Sangkyou Lee, Sung Yun Jung, Pawel Kuś, Jolanta Bondaruk, June Goo Lee, Roman Jaksik, Nagireddy Putluri, Khanh N Dinh, David Cogdell, Huiqin Chen, Yishan Wang, Jiansong Chen, Neema Navai, Colin Dinney, Cathy Mendelsohn, David Mcconkey, Richard R Behringer, Charles C Guo, Peng Wei, Marek Kimmel, Bogdan Czerniak

Faculty, Staff and Students Publications

Multiplatform mutational and gene expression profiling complemented with proteomic and metabolomic spatial mapping were used on the whole-organ scale to identify the molecular profile of bladder cancer evolution from field effects. Analysis of the mutational landscape identified three types of mutations, referred to as α, β, and γ. Time modeling of the mutations revealed that carcinogenesis may span 30 years and can be divided into dormant and progressive phases. The α mutations developed in the dormant phase. The progressive phase lasted 5 years and was signified by expanding β mutations, but it was driven to invasive cancer by γ mutations. …


Molecular Mechanisms In Masld/Mash-Related Hcc, Xiaobo Wang, Liang Zhang, Bingning Dong Nov 2025

Molecular Mechanisms In Masld/Mash-Related Hcc, Xiaobo Wang, Liang Zhang, Bingning Dong

Faculty, Staff and Students Publications

Liver cancer is the third leading cause of cancer-related deaths and ranks as the sixth most prevalent cancer type globally. NAFLD or metabolic dysfunction-associated steatotic liver disease, and its more severe manifestation, NASH or metabolic dysfunction-associated steatohepatitis (MASH), pose a significant global health concern, affecting approximately 20%-25% of the population. The increased prevalence of metabolic dysfunction-associated steatotic liver disease and MASH is parallel to the increasing rates of obesity-associated metabolic diseases, including type 2 diabetes, insulin resistance, and fatty liver diseases. MASH can progress to MASH-related HCC (MASH-HCC) in about 2% of cases each year, influenced by various factors such …