Digital Commons Network^™

Steroid Hormone Metabolites And Mammographic Breast Density In Premenopausal Women, Ghazaleh Pourali, Kayode A Matthew, Myung Sik Jeon, Chongliang Luo, Gary J Patti, Jingqin Luo, Adetunji T Toriola

2020-Current year OA Pubs

BACKGROUND: Steroid hormones influence breast morphology and cellular proliferation and are associated with breast carcinogenesis. However, their associations with mammographic breast density (MBD) are less studied, particularly in premenopausal women. We, therefore, investigated the associations of steroid hormone metabolites with MBD in premenopausal women.

METHODS: Our study included 700 premenopausal women scheduled for screening mammograms. We analyzed 54 steroid hormone metabolites (Metabolon®) and assessed volumetric measures of MBD including volumetric percent density (VPD), dense volume (DV), and non-dense volume (NDV) using Volpara. We investigated associations using linear regression modeling to estimate the covariate-adjusted means of VPD, NDV, and DV, corresponding …

A Microenvironment-Driven Hla-Ii-Associated Insulin Neoantigen Elicits Persistent Memory T Cell Activation In Diabetes, Neetu Srivastava, Anthony N Vomund, Rongzhen Yu, Orion J Peterson, Yuqing Yang, David P Turicek, Omar Abousaway, Tiandao Li, Pamela Stone, Aisha Ansar, Rima Melhem, Bo Zhang, Chang Liu, Hao Hu, Chyi-Song Hsieh, Laura Campisi, Emil R Unanue, Ana Maria Arbelaez, Cheryl F Lichti, Xiaoxiao Wan, Et Al.

2020-Current year OA Pubs

The antigenic landscape of autoimmune diabetes reflects a failure to preserve self-tolerance, yet how novel neoantigens emerge in humans remains incompletely understood. Here we designed an immunopeptidomics-based approach to probe HLA-II-bound, islet-derived neoepitopes in patients with type 1 diabetes. We uncovered a Cys→Ser transformation, conserved between mice and humans, that reshapes autoreactivity to insulin at the single-residue level. This transformation, which we call C19S, arises from oxidative remodeling of insulin in stressed pancreatic islets and also occurs in cytokine-activated antigen-presenting cells, contributing to a feed-forward loop of neoepitope formation and presentation. Despite involving just one amino acid, C19S is recognized …

The Underdiagnosis Of Neurodevelopmental Disorders In Women: Recognizing A Spectrum Of Symptoms, Taylor D. Bloomhuff

Psychology Doctoral Specialization Projects

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have long been viewed as predominantly male diagnoses. Based on foundational studies for these disorders, not only are they more prevalent in male children, but symptom severity is also higher in male children. In attention-deficit/hyperactivity disorder in particular, it has become a common assumption that hyperactive/impulsive and combined types are ‘male’ ADHD presentations, while the inattentive type corresponds to the few female children who meet diagnostic criteria. However, emerging research looking at the decrease in autism spectrum disorder and attention-deficit/hyperactivity disorder prevalence rates between gender in adulthood suggests that these neurodevelopmental disorders …

“The True Me”: Unravelling The Dual Narrative Of Borderline Personality Disorder And Autistic Spectrum Disorder, Robin Iliffe-Lewis, Alison Bacon

School of Psychology

Objectives: There is growing recognition that some individuals who receive a diagnosis of Borderline Personality Disorder (BPD) are later diagnosed with autism. However, existing literature on this topic remains limited. This study aimed to explore the experiences of individuals diagnosed with BPD prior to autism, how they made sense of these diagnoses, navigated clinical systems, and learnt to manage the complex challenges associated with this diagnostic sequence.Methods: Thirteen (6 male, 6 female, 1 non-binary) adult participants took part in semi-structured interviews exploring their diagnostic journeys. Reflexive thematic analysis was used to develop a nuanced understanding of their experiences.Results: Three themes …

Clinical Subtypes Of Co-Morbid Insomnia And Obstructive Sleep Apnea (Comisa): Results Of A Cluster Analysis, Yuan Shi, Xujun Feng, Fengyi Hao, Yuru Nie, Yihui Zhang, Zhaohua Chen, Siqi Guan, Larry D. Sanford, Michael V. Vitiello, Xiangdong Tang

Department of Pathology & Anatomy Faculty Publications

Background

Variations in the bidirectional relationship between obstructive sleep apnea (OSA) and insomnia in co-morbid insomnia and OSA (COMISA) may form distinct subtypes of COMISA, which have not been previously characterized. This study aims to identify and characterize subtypes of COMISA.

Methods

From a community-recruited COMISA cohort 256 individuals who met diagnosis for COMISA were used to identify subtypes using a two-step clustering methodology. Demographics and multidimension clinical characteristics were collected and compared among obtained subtypes. Logistic models were used to evaluate whether these subtypes were associated with cardiometabolic and mental disorders. A clinical cohort of 1816 COMISA patients was …

Women’S Marital Surname Change: Adjustment & The Novel Concept Of Name Decision Match, Sarah E. Fox

PCOM Psychology Dissertations

Marriage is a significant, complex life event that most international and U.S. adults experience. Marriage offers numerous opportunities for decision-making, including the marital surname change choice. A woman may choose to adopt her husband’s surname (i.e., Changers), keep her birth surname (i.e., Keepers), or an alternative (i.e., Creatives). Enduring societal norms and traditions are reflected in most women who are Changers. Conversations surrounding marital surname change choice may offer insight into the couple’s agreement on the ultimate decision, referred to in this study as name decision match (NDM), a novel concept. The purpose of the study was to analyze women’s …

Navigating Motherhood: A Qualitative Study Of The Experiences And Challenges Of Non-Birthing Mothers In Queer Cisgender-Relationships, Anna Caravaggio

PCOM Psychology Dissertations

The present study explored the psychological experiences of non-birthing mothers in queer cisgender female relationships, a population that remains underrepresented in the parenting literature. Existing research has focused primarily on birthing mothers or same-sex couples as a unit, leaving the unique perspectives of non-birthing mothers insufficiently examined. Using a qualitative phenomenological design, eight non-birthing mothers participated in semi-structured interviews examining their transition to parenthood, maternal identity development, and experiences within relational, social, and systemic contexts. Data were analyzed using thematic analysis, resulting in five primary themes: pathways to parenthood and conception decision making; constructing maternal identity; bonding and attachment processes; …

Eeg And Imu Gait Signal Processing: A Comparative Assessment Of The "Reza" Exponential Filter And Classic Filters, Reza Pousti, Daniel M. Russell, Derek C. Monroe, Christopher K. Rhea

Rehabilitation Sciences Faculty Publications

Noise degrades both EEG and gait signals, and classical IIR filters (Butterworth, Chebyshev, elliptic) involve trade-offs between passband flatness, ripple, and roll-off. This study compared a novel exponential "Reza" filter with these designs for neural and locomotor data. We analyzed an open-source mobile brain-body imaging dataset with EEG and gait data from 49 healthy adults (EEG: 256-channel, 512 Hz; IMUs: six APDM Opals, 128 Hz). EEG channels were grand-averaged and band-pass filtered at 0.5-50 Hz, while IMU axes were averaged and band-pass filtered at 0.5-5 Hz. The outcomes were signal-to-noise ratio SNR (dB) and band-integrated Welch PSD (EEG:0.5-50 Hz; IMU:0.5-5 …

Clinical Outcomes With Perioperative Nivolumab By Nodal Status In Patients With Stage Iii Resectable Nsclc: Phase 3 Checkmate 77t Exploratory Analysis, Mariano Provencio, Mark M Awad, Jonathan D Spicer, Annelies Janssens, Fedor Moiseyenko, Yang Gao, Yasutaka Watanabe, Aurelia Alexandru, Florian Guisier, Nikolaj Frost, Fabio Franke, T Jeroen Nicolaas Hiltermann, Jie He, Fumihiro Tanaka, Shun Lu, Cinthya Coronado Erdmann, Padma Sathyanarayana, Phuong Tran, Vipul Devas, Tina Cascone

Faculty, Staff and Student Publications

Individuals with non-small-cell lung cancer (NSCLC) with metastases to the ipsilateral mediastinum or subcarinal lymph nodes (N2 disease) have poor long-term survival. This exploratory analysis from the randomized phase 3 CheckMate 77T study assessed clinical outcomes by nodal status in individuals with stage III NSCLC who received neoadjuvant nivolumab plus chemotherapy followed by surgery and adjuvant nivolumab (nivolumab) versus neoadjuvant chemotherapy followed by surgery and adjuvant placebo (placebo). Here we show that among patients with N2 disease, nivolumab versus placebo improved event-free survival (1-year rate, 70% versus 45%; hazard ratio, 0.46 (95% confidence interval, 0.30–0.70)) and pathological complete response rate …

Redrawing Anatomy: Addressing Female Genital Underrepresentation In Educational Texts, Clara E. Krohn

Williams Honors College, Honors Research Projects

The fight for female equality in the historically male dominated medical field is an ongoing battle. This project focuses primarily on the underrepresentation of female genitalia in undergraduate academic textbooks. A dissected pelvis of a female cadaver was initially examined. Pictures were obtained with scale bars to accurately depict size of the structures included. Underrepresented structures such as the clitoris and the broad ligament were closely examined along with the reproductive system as a whole. The pictures compiled along with further research were used to design a portfolio of diagrams and a survey to be later administered. The survey was …

Pancreatic Cancer Detection Consortium Biomarker Bakeoff: A Phase Ii Blinded Biomarker Validation And Panel Discovery Study, Ann L. Oberg, William R. Bamlet, Grant Izmirlian, Seetharaman Balasenthil, Surinder K. Batra, Masataka Hayashi, Daniel S. Herman, Michael A. Hollingsworth, Maneesh Jain, Ann M. Killary, Brianna M. Krusen, Suyu Liu, Shounak Majumder, Gopalakrishnan Natarajan, Subrata Sen, Lynette M. Smith, Sudhir Srivastava, Brian M. Wolpin, Kenneth S. Zaret, Michael G. Goggins

Journal Articles: Biochemistry & Molecular Biology

PURPOSE: The Pancreatic Cancer Detection Consortium (PCDC) performed a blinded Early Detection Research Network-defined phase II biomarker bakeoff study of blood-based biomarker panels. The aims were to evaluate panel performance, to compare the panels' performance with that of cancer antigen 19-9 (CA19-9) alone, and to evaluate the performance of new combinations of the individual biomarkers.

EXPERIMENTAL DESIGN: Ten biomarkers representing eight biomarker panels and CA19-9 were evaluated using plasma, serum, and germline DNA from 140 stage I to IV pancreatic ductal adenocarcinoma (PDAC) cases and 140 controls from three tertiary care institutions, with controls frequency matched to cases on age …

“Shaking The Ladder” Reveals How Analytic Choices Can Influence Associations In Nutrition Epidemiology: Beef Intake And Coronary Heart Disease As A Case Study, Colby J Vorland, Lauren E O'Connor, Beate Henschel, Cuiqiong Huo, James M Shikany, Carlos A Serrano, Robert Henschel, Stephanie L Dickinson, Keisuke Ejima, Aurelian Bidulescu, David B Allison, Andrew W Brown

Children’s Nutrition Research Center Staff Publications

Nutrition epidemiological models involve many analytic decisions, such as defining exposures, selecting which covariates to include, or configuring variables in different ways. We explored the impact of analytical decisions on conclusions in nutrition epidemiology using self-reported beef intake and incident coronary heart disease as a case study. We used REasons for Geographic and Racial Differences in Stroke (REGARDS) data, and selected covariates and their configurations from published literature to recapitulate common models used to assess associations between meat intake and health outcomes. Three model sets were designed: sets one and two used continuous and quintile-defined beef intakes, respectively, each with …

Cross-Sectional And Longitudinal Relationships Between Abdominal Fat Depots And Cardiometabolic Risk In A Sample Of Mexican Adolescents, Luis Ortíz-Hernández, Erica G Soltero, Miguel Camejo, Jesús Valdes

Children’s Nutrition Research Center Staff Publications

Background: The relationship between abdominal fat depots and cardiometabolic risk among youth is inconclusive due to the cross-sectional nature of existing studies and limitations in assessment methods. In this study, we examined cross-sectional and longitudinal associations of subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT) with cardiometabolic risk indicators among Mexican adolescents.

Methods: Participants (n = 169 at baseline and 134 at follow-up) were assessed for diastolic or systolic blood pressure (DBP or SBP), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglycerides, glucose, and insulin. VAT and SAT were measured using magnetic resonance imaging. Measures …

Frontline Aspiration Versus Stent Retriever Thrombectomy For M2 Occlusions: Insights From The Star Registry, Michael Gaub, Joshua Osbun, Et Al.

2020-Current year OA Pubs

BACKGROUND: Recent trials have furthered uncertainty regarding the endovascular benefit for medium vessel occlusions (MeVO). Stent retrievers (SR) were employed in the first attempt in most interventional arm participants. We sought to compare outcomes in acute MCA M2 occlusions between frontline aspiration and SR, and to delineate procedural and anatomical covariates associated with differential treatment effect.

METHODS: Retrospective analysis of a multicenter stroke thrombectomy cohort identified cases of MT for M2 occlusions. Unmatched and propensity score-matched (PSM) cohorts were generated comparing frontline aspiration to standalone and combined SR. The primary outcome was functional independence (mRS 0-2) at 90 days. Recanalization, …

Foot-Specific Exercise Intervention For Forefoot Deformity In Individuals With Type 2 Diabetes And Peripheral Neuropathy: A Randomized Controlled Clinical Trial With 3-Year Follow-Up, J A Zellers, K Steger-May, P K Commean, H-J Jeong, E M Bullard, M J Mueller, M K Hastings

2020-Current year OA Pubs

BACKGROUND: Diabetes with peripheral neuropathy can lead to metatarsophalangeal joint (MTPJ) deformity. The purpose of this study was to estimate the effect of a foot-specific intervention on MTPJ deformity. Secondary aims were determining MTPJ deformity progression over 3 years and predictors of MTPJ deformity progression.

METHODS: Sixty people with type 2 diabetes and peripheral neuropathy were recruited for this randomized controlled clinical trial. Participants were assessed at baseline, 6 months (post-intervention), 1.5 years, and 3 years. A 6-month, foot-specific intervention in the experimental group was compared to a shoulder intervention in the control group. The primary outcome was change in …

Comparison Of Mental Illness Comorbidity Pre-Pandemic Vs. Pandemic-Era And Associations With Clinical And Demographic Characteristics For Virginia Public Hospital Inpatient Discharges With A Substance Use Disorder, Marilyn Bartholmae, Tharidu Gunawardena

Department of Medicine Faculty Publications

The rise in mental illnesses after the COVID-19 pandemic is well documented. However, it is not known whether the rates of mental illness comorbidity increased. The objectives of this study were to compare mental illness comorbidity rates before and after the pandemic among inpatients with SUD and to test associations between mental illness comorbidity, physical illness, and demographics. We used a retrospective cross-sectional design in a sample of inpatient discharges (N = 233,017) at Virginia public hospitals from January 2018 to December 2022. We used Z tests to compare rates of mental illness comorbidity pre- and post-pandemic and Chi-square tests …

Trends In Hypertension Prevalance And Control In The United States Over 25 Years, Omar Saleh, Neda Rehan, Saleh Mostafa, Rehan Qayyum

Department of Medicine Faculty Publications

Despite sustained public health efforts, hypertension remains highly prevalent in the United States, with persistent disparities across demographic and socioeconomic groups. We examined 25-year trends in hypertension prevalence, undiagnosed hypertension, and on-treatment uncontrolled hypertension in the United States using nationally representative National Health and Nutrition Examination Survey (NHANES) data from adults aged ≥18 years. Hypertension was defined as systolic BP ≥130 mmHg, diastolic BP ≥80 mmHg, or current antihypertensive use. Undiagnosed hypertension was defined as elevated BP without prior diagnosis or treatment, while on-treatment uncontrolled hypertension was defined as diagnosed hypertension with BP ≥130/80 mmHg despite treatment. Survey-weighted generalized linear …

Seasonal And Geographic Patterns Of Gastroschisis In Canada: Protective Effect Of Periconceptional Sunlight Exposure, Shiliang Liu, Shin Jie Yong, Dunjin Chen, Gavin C. Hughes, Claude L. Hughes

Department of Medicine Faculty Publications

Background: Gastroschisis is a right-sided, full-thickness defect with extra-amnionic herniation of abdominal contents directly into the amniotic cavity. The causes of gastroschisis remain obscure. We hypothesized that limited periconceptional sunlight exposure might lead to insufficient vitamin D during fetal development and play a role in gastroschisis etiology.

Methods: We conducted a population-based cohort study of infants conceived in Canada between April 2006 and March 2020. We used winter months (i.e., November and December) and northern geographic latitudes as indicators of insufficient sunlight exposure, while summer months (July and August) and southern geographic latitudes were considered as reference. We examined the …

Frequent Emergency Department Utilization And Syphilis Case Profiles In The Sentara Healthcare System: A Retrospective Cross-Sectional Analysis In Hampton Roads, Martina Zamponi, Grace M. Tillotson, Chandler F. Knox, Mackenzie Tardif-Kunk, Thomas R. Campbell, Peter A. Mollica

Department of Medicine Faculty Publications

Background

Syphilis rates have increased substantially nationwide, disproportionately affecting marginalized populations and individuals with differing patterns of healthcare utilization. The Hampton Roads region of Virginia and North Carolina includes multiple jurisdictions with syphilis rates above the CDC screening threshold, with 7 of its 9 independent cities meeting this criterion. However, no prior study has examined the relationship between emergency department (ED) utilization patterns and documented syphilis diagnoses in this region.

Methods

A retrospective cross-sectional analysis of the Sentara Healthcare network was conducted using aggregate data from the TriNetX platform. Patients diagnosed with syphilis between 2023 and 2024 were stratified by …

Association Of Valvular Disease Progression Using Echocardiographic Findings In A Large U.S. Cohort, Abes A. Bautista Neughebauer, Amin Yehya, Raymond L. Benza, Deepak Talreja

Department of Medicine Faculty Publications

Background

The prevalence of valvular disease in the US is approximately 2.5%. Given that over 5 million Americans are affected, it is crucial to find those at higher risk of progression. The goal of this paper is to uncover which patients are more likely to have valvular disease progression using demographic factors, EKG and echocardiogram (ECHO) findings.

Methods

This paper utilized the EchoNext Database, which pairs 100,000 electrocardiograms and echocardiograms based on specific structural heart disease labels. Univariate and multivariate logistic regression were used to find risk factors for progression for aortic stenosis (AS), aortic regurgitation (AR), mitral regurgitation (MR), …

Advancing Inter-Brain Synchrony Measurement: A Comparative Hyperscanning Study Of Diffuse Optical Tomography And Functional Near-Infrared Spectroscopy, Shuo Guan, Yuhang Li, Yingbo Geng, Dongyun Li, Qiong Xu, Peisong Niu, Dalin Yang, Adam Eggebrecht, Yingchun Zhang, Rihui Li

2020-Current year OA Pubs

Inter-brain synchrony (IBS), measured by hyperscanning, refers to the synchronization of multiple individuals' brain activities during social interactions. Traditional fNIRS-based hyperscanning suffers shortcomings like low spatial resolution and high susceptibility to superficial interference, causing imprecise estimation of IBS in complex social tasks. This study aims to fill the knowledge gap by comprehensively assessing diffuse optical tomography (DOT), an enhanced alternative to fNIRS, can benefit hyperscanning studies of complex social interactions. Sixteen dyads were engaged in both collaborative and individual tangram puzzle tasks, and their brain activities were recorded simultaneously using DOT and fNIRS. We found that DOT demonstrated significantly stronger …

Air Quality Risks In Public Housing, Brynn Sheehan, Carolyn Caraballo Velez, Vaughan W. Rees, Miasha T. O'Neal, Kristen E. Moore, Katie M. Jones, Jessica Meadows, Sarah Gehlert, Richard Grucza, Andrew Plunk, Kelli J. England

Department Psychiatry & Behavioral Science Faculty Publications

Importance Public housing residents face elevated environmental health risks, yet indoor air quality in these settings remains underexamined. OBJECTIVE: To evaluate indoor air quality in public housing 5 years after implementation of the federal smoke-free housing policy and compare it with outdoor air quality in the same regions.

Design, Setting, and Participants A 1-year cohort study of indoor air quality (particulate matter ≤2.5 μm in diameter [PM2.5]) across 12 multifamily public housing communities in southeastern Virgina for individuals 65 years and older or persons with disability in cities with the highest rated outdoor air quality. Indoor PM2.5 was continuously measured …

De Novo And Inherited Dominant Variants In U4 And U6 Snrna Genes Cause Retinitis Pigmentosa, Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E De Bruijn, Ana Belén Iglesias-Romero, Erica G M Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K Holtes, Stephen H Tsang, Zelia Corradi, K Bailey Freund, Stefanida Shliaga, Daan M Panneman, Rebekkah J Hitti-Malin, Manir Ali, Ala'a Altalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh D N Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Tahsin Stefan Barakat, Mirella T S Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David G Birch, Pooja Biswas, Fiona Blanco-Kelly, Beatrice Bocquet, Camiel J F Boon, Kari Branham, Dominique Bremond-Gignac, Alexis Ceecee Britten-Jones, Kinga M Bujakowska, Cyril Burin Des Roziers, Elizabeth L Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Luísa Coutinho-Santos, Stephen P Daiger, Elfride De Baere, Marieke De Bruyne, Berta De La Cerda, John N De Roach, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L Duncan, G Jane Farrar, Nicolas Feltgen, Beau J Fenner, Lidia Fernández-Caballero, Juliana M Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C Gardner, Christian Gilissen, Roser Gonzàlez-Duarte, Kensuke Goto, Sam Griffiths-Jones, Tobias B Haack, Lonneke Haer-Wigman, Alison J Hardcastle, Takaaki Hayashi, Elise Héon, Lies H Hoefsloot, Alexander Hoischen, Josephine P Holtan, Carel B Hoyng, Manuel Benjamin B Ibanez, Chris F Inglehearn, Takeshi Iwata, Brynjar O Jensson, Kaylie Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C W Klaver, Krisztina Knézy, Robert K Koenekoop, Susanne Kohl, Taro Kominami, Laura Kühlewein, Tina M Lamey, Rina Leibu, Bart P Leroy, Petra Liskova, Irma Lopez, Victor R De J López-Rodríguez, Quinten Mahieu, Omar A Mahroo, Gaël Manes, Luke Mansard, M Pilar Martín-Gutiérrez, Nelson Martins, Laura Mauring, Martin Mckibbin, Terri L Mclaren, Isabelle Meunier, Michel Michaelides, José M Millán, Kei Mizobuchi, Rajarshi Mukherjee, Zoltán Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Michiel Oorsprong, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric A Pierce, Emily Place, Raj Ramesar, Francis Ramond, Florence Andrée Rasquin, Gillian I Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H Sabir, Ai Fujita Sajiki, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Cristina M Santos, Margherita Scarpato, Hendrik P N Scholl, Dror Sharon, Sabrina G Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori S Sullivan, Viktória Szabó, Jacek P Szaflik, Gita Taurina, Alberta A H J Thiadens, Carmel Toomes, Viet H Tran, Miltiadis K Tsilimbaris, Pavlina Tsoka, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Sophie Valleix, Joseph Van Aerschot, L Ingeborgh Van Den Born, Mattias Van Heetvelde, Virginie J M Verhoeven, Andrea L Vincent, Andrew R Webster, Laura Whelan, Bernd Wissinger, Georgia G Yioti, Kazutoshi Yoshitake, Juan C Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan I Jacob, Siying Lin, Frans P M Cremers, Winston Lee, Jamie M Ellingford, David Stanek, Susanne Roosing, Carlo Rivolta

Faculty, Staff and Student Publications

Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders. Here we show that heterozygous inherited and de novo variants in RNU4-2 and in four RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8 and RNU6-9), which encode U6, recur in individuals with nonsyndromic retinitis pigmentosa (RP), a genetic disorder causing progressive blindness. These variants cluster within the three-way junction of the U4/U6 duplex, …

“If He Did It, I Can Do It, Too. I Can Change My Life Around”: The Social Model Of Recovery Within The Context Of Recovery Homes Accepting Residents Prescribed Medications For Opioid Use Disorder, Jodie M Dewey, Kathryn R Gallardo, Meenakshi S Subbaraman, Amy A Mericle

Faculty, Staff and Student Publications

Introduction: This paper provides an in-depth examination of examines four recovery residences, that serve individuals prescribed medications for opioid use disorder (MOUD). The study has two primary aims: first, to deepen understanding of how recovery residences adopt and operationalize Social Model of Recovery principles; and second, to identify gaps in staff integration of residents receiving MOUD-gaps that may either support or undermine the integrity of the social model within these settings.

Methods: We conducted semi-structured interviews with 17 residents receiving MOUD living in four participating recovery homes. The interviews were conducted between August 2022 and January 2024 using a semi-structured …

Pregnancy And Breastfeeding Are Associated With Less Later-Life Cognitive Decline In A Longitudinal, Prospective Cohort, Molly M Fox, Jennifer E Bramen, Dayoon Kwon, Mark A Espeland, Yijia Sun, Li Zhang, Aladdin H Shadyab, Ramon Casanova, Joann E Manson, Marcus Y Chang, Verna R Porter, Leslie V Farland, Qian Xiao, Robert A Wild, Prabha Siddarth, Carolyn J Crandall

Faculty, Staff and Student Publications

Introduction: The brains of female mammals evolved to undergo structural and functional changes during pregnancy and lactation, equipping them for motherhood. However, long-term cognitive health implications of these adaptations in women are poorly understood.

Methods: In the Women's Health Initiative (WHI) Memory Study (WHIMS; n = 7427) and WHI Study of Cognitive Aging (WHISCA; n = 2304), postmenopausal women completed reproductive history interviews, annual global cognitive assessment from mean age 70 for up to 13 years, and multi-domain cognitive testing for up to 8 years.

Results: Each additional month pregnant was associated with higher scores of global cognition. Each additional …

The Longitudinal Effect Of Repetition And Practice On The Accuracy Of Lay Anal Examinations For Detecting Perianal And Anal Canal Abnormalities: A Prospective Study, Alan G Nyitray, Timothy L Mcauliffe, Jenna Nitkowski, Cameron Liebert, Michael D Swartz, Ashish A Deshmukh, Jared Kerman, Ellen Almirol, John A Schneider, J Michael Wilkerson, Lu-Yu Hwang, Derek Smith, Duo Yu, Aniruddha Hazra, Elizabeth Y Chiao

Faculty, Staff and Student Publications

Background: While anal cancer screening is now recommended in several countries for high-incidence populations, barriers impede screening uptake. It is well known that patient recognition of symptoms increases cancer screening uptake, and we previously demonstrated that patients can detect small masses at the perianus and in the anal canal. In this current analysis, we aimed to longitudinally assess the effect of repetition and practice on patient self-recognition of small masses.

Methods: Individuals and couples of sexual minority men and transgender women were taught to conduct an anal self-examination or anal companion examination (ASE/ACE) at visit 1 and then randomized to …

Associations Between Contralesional Neuroplasticity And Motor Impairment Through Deep Learning-Derived Mri Regional Brain Age In Chronic Stroke (Enigma): A Multicohort, Retrospective, Observational Study, Gilsoon Park, Mahir Khan, Justin Andrushko, Nerisa Banaj, Michael Borich, Lara Boyd, Amy Brodtmann, Truman Brown, Cathrin Buetefisch, Adriana Conforto, Steven Cramer, Michael Dimyan, Martin Domin, Miranda Donnelly, Natalia Egorova-Brumley, Elsa Ermer, Wuwei Feng, Fatemeh Geranmayeh, Colleen Hanlon, Brenton Hordacre, Neda Jahanshad, Steven Kautz, Mohamed Salah Khlif, Jingchun Liu, Martin Lotze, Bradley Macintosh, Feroze Mohamed, Jan Nordvik, Fabrizio Piras, Kate Revill, Andrew Robertson, Christian Schranz, Nicolas Schweighofer, Na Jin Seo, Surjo Soekadar, Shraddha Srivastava, Bethany Tavenner, Gregory Thielman, Sophia Thomopoulos, Daniela Vecchio, Emilio Werden, Lars Westlye, Carolee Winstein, George Wittenberg, Jennifer Ferris, Chunshui Yu, Paul Thompson, Sook-Lei Liew, Hosung Kim

Department of Radiology Faculty Papers

BACKGROUND: Stroke leads to complex chronic structural and functional brain changes that specifically affect motor outcomes. The brain predicted age difference (PAD) has emerged as a sensitive biomarker of both sensorimotor and cognitive function after stroke. Our previous study showed a higher global brain PAD associated with poorer motor function after stroke. However, the association between local stroke lesion load, regional brain age, and motor impairment is unclear. This study aimed to investigate the associations between focal lesion damage, regional brain PAD in both hemispheres, and motor outcomes in chronic stroke, and to identify key predictors of motor impairment.

METHODS: …

The Two-Step Allogeneic Stem Cell Transplant Is Associated With Excellent Engraftment, Improved Survival And Low Nonrelapse Mortality In Patients With Myelofibrosis, Xia Bi, Shaik Rashid, Joanne Filicko-O'Hara, Joseph Van Galen, William O'Hara, John L. Wagner, Dolores Grosso, Neal Flomenberg, Usama Gergis

Department of Medical Oncology Faculty Papers

Myelofibrosis is a chronic myeloproliferative disorder primarily affecting older adults, and allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option. However, HSCT for myelofibrosis presents significant challenges, including high nonrelapse mortality (NRM) and an increased risk of graft failure. In this 20-year retrospective study, we evaluated outcomes for 32 myelofibrosis patients who underwent HSCT at our institution, with particular focus on a two-step transplant approach designed to optimize T-cell dosing by separating the lymphoid and myeloid graft components, with cyclophosphamide administered after the lymphoid infusion and before infusion of CD34-selected stem cells. Eighteen patients underwent transplantation using …

Advancing Virus-Associated Lymphoma Research In Latin America: A Global Opportunity For Cancer Science, Irene Tamí-Maury, Bryan Valcarcel, Maria Alejandra Torres, Arlett Hernandez Chavez, Luis Malpica

Faculty, Staff and Student Publications

No abstract provided.

Food Delivery Services For Enhancing Participation In The Special Supplemental Nutrition Program For Women, Infants, And Children (Wic) In The United States: Bridging The Wic-Eligible Access Gap, Jingjing Gao, Muinat Abolore Idris, Lilian O Ademu, Bryan Colby Griffin, Yue Zhang, Yun Hang, Gabriela A Gallegos

Faculty, Staff and Student Publications

Background: Diet-related health disparities among U.S. children persist despite the availability of the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) benefits to eligible women, infants, and children. Participation remains suboptimal: only 51.2% of eligible individuals were enrolled in 2021. Transportation and food-environment constraints pose salient barriers, especially for caregivers of infants in food deserts. Emerging online ordering and delivery options may reduce access frictions, but grocery delivery coverage is limited, and fees are often not covered by benefits.

Methods: We linked USDA Food and Nutrition Service state-level WIC participation data (November 2024 vs. September 2025) with demographic, …