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Delivering Safe Sleep And Breastfeeding Education To Pregnant And New Mothers Through Private Facebook Groups: Study Protocol For A 4-Armed Randomized Controlled Trial, Rebecca F Carlin, Margaret G Parker, Ann L Kellams, Fern R Hauck, Stephen Kerr, Benjamin T Cornwell, Marc T Kiviniemi, Nicole Geller, Katherine E Boguszewski, Michael J Corwin, Eve R Colson, Rachel Y Moon Apr 2026

Delivering Safe Sleep And Breastfeeding Education To Pregnant And New Mothers Through Private Facebook Groups: Study Protocol For A 4-Armed Randomized Controlled Trial, Rebecca F Carlin, Margaret G Parker, Ann L Kellams, Fern R Hauck, Stephen Kerr, Benjamin T Cornwell, Marc T Kiviniemi, Nicole Geller, Katherine E Boguszewski, Michael J Corwin, Eve R Colson, Rachel Y Moon

2020-Current year OA Pubs

BACKGROUND: Annually, more than 3500 US infants die suddenly and unexpectedly. Many sudden unexpected infant deaths (SUID) are preventable with greater adherence to safe infant sleep guidelines. There are racial and economic disparities in guideline adherence and SUID rates. Education alone has proven ineffective at altering behavior for many parents, and social networks and social norms regarding infant care have been found to influence rates of unsafe sleep. Using the power of social networks to shape social norms by delivering education through moderated online social media groups provides a unique opportunity to influence these practices in large groups of parents. …


Enhancing Inference Of Differential Gene Expression In Metatranscriptomes From Human Microbial Communities, Evan M Lee, Nathan P Mcnulty, Matthew C Hibberd, Jiye Cheng, Kazi Ahsan, Hao-Wei Chang, Barak A Cohen, Jeffrey I Gordon Apr 2026

Enhancing Inference Of Differential Gene Expression In Metatranscriptomes From Human Microbial Communities, Evan M Lee, Nathan P Mcnulty, Matthew C Hibberd, Jiye Cheng, Kazi Ahsan, Hao-Wei Chang, Barak A Cohen, Jeffrey I Gordon

2020-Current year OA Pubs

Metatranscriptomic (MTX) sequencing quantifies gene expression from the collective genomes of microbial communities (microbiomes), enabling assessment of functional activity rather than functional potential. While differential expression testing is essential for RNA-sequencing analysis, current metatranscriptomic approaches have only been benchmarked on simulated data, resulting in a lack of standard practices for analysis of real datasets. Here, we use mock communities (defined mixtures of microbial cells with known properties) to quantitatively assess robustness and susceptibility of current approaches to various confounders including organisms' low relative abundance, differential abundance, low prevalence, global transcriptional output changes, and compositional effects. We show that no current …


Out-Of-Pocket Costs And Antihypertensive Medication Use Among Veterans: A Natural Experiment, Alexander R. Zheutlin, Alexander Chaitoff, Daniel Addo, Joshua A. Jacobs, Catherine G. Derington, Eric L. Stulberg, Peter A. Glynn, Bernardo Modenesi, Jordana B. Cohen, Adam P. Bress Apr 2026

Out-Of-Pocket Costs And Antihypertensive Medication Use Among Veterans: A Natural Experiment, Alexander R. Zheutlin, Alexander Chaitoff, Daniel Addo, Joshua A. Jacobs, Catherine G. Derington, Eric L. Stulberg, Peter A. Glynn, Bernardo Modenesi, Jordana B. Cohen, Adam P. Bress

Department of Neurology Faculty Papers

BACKGROUND: Blood pressure (BP) control remains suboptimal in the United States despite available low-cost antihypertensive medications. Even small out-of-pocket medication costs may contribute to adherence. We determined whether $0 versus >$0 out-of-pocket costs for antihypertensive medications is associated with differences in adherence, discontinuation, BP control, and cardiovascular outcomes.

METHODS: We included veterans with newly diagnosed hypertension who initiated antihypertensive medication in the Veterans Health Administration from 2004 to 2022. A fuzzy regression discontinuity design with 2-stage residual inclusion leveraged differences in medication copay policy at a 50% service-connected disability threshold (≥50% service-connected disability: $0 out-of-pocket cost versus < 50%: $8 monthly cost). Outcomes included 1-year medication nonadherence (proportion of days covered < 80%), 1-year medication discontinuation (no medication in the final 90 days of the study year), 1-year BP control (systolic BP/diastolic BP < 140/90 mm Hg and < 130/80 mm Hg) and cardiovascular disease events (myocardial infarction, coronary revascularization, peripheral artery disease, or stroke).

RESULTS: Among 417 …


Cardiovascular Disease And Dyslipidemia In Pediatric Type 1 Diabetes, Grace K Kim, Preneet Cheema Brar, Nidhi Bansal Apr 2026

Cardiovascular Disease And Dyslipidemia In Pediatric Type 1 Diabetes, Grace K Kim, Preneet Cheema Brar, Nidhi Bansal

Faculty, Staff and Students Publications

Purpose of review

Despite advances in type 1 diabetes (T1D) management, mortality is still increased, with cardiovascular disease (CVD) as the leading cause. Dyslipidemia is a highly prevalent modifiable CVD risk factor. We reviewed the existing literature on CVD mortality in T1D to highlight CVD risk in pediatric patients with T1D.

Recent findings

Pathophysiology of T1D and premature CVD risk is still not fully understood. Dyslipidemia remains a highly prevalent and undertreated CV risk factor in T1D. Statins have been shown to be safe and effective to improve CVD risk in adults with T1D, and in children with familial hypercholesterolemia, …


Perceived Inadequate Neighborhood Food Shopping And Cardiovascular Disease Risk: The Multi-Ethnic Study Of Atherosclerosis, Amier Haidar, Ghadi Ghanem, Rishi Rikhi, Karol E Watson, Shreela V Sharma, Michael D Shapiro Apr 2026

Perceived Inadequate Neighborhood Food Shopping And Cardiovascular Disease Risk: The Multi-Ethnic Study Of Atherosclerosis, Amier Haidar, Ghadi Ghanem, Rishi Rikhi, Karol E Watson, Shreela V Sharma, Michael D Shapiro

Faculty, Staff and Student Publications

Background: Individuals with access to healthy food have healthier diets, improved cardiometabolic risk profiles, and decreased cardiovascular disease (CVD). However, previous studies have focused on the neighborhood food environment as distance to and density of food retailers. Our study examines the association between an individual's perceived adequacy of neighborhood food shopping and incident CVD.

Methods: We analyzed data from 6814 participants in the MESA (Multi-Ethnic Study of Atherosclerosis), a prospective cohort study of individuals aged 45 to 84 who were enrolled in the study between 2000 and 2002 and followed longitudinally. Cox proportional hazards models estimated hazard ratios (HRs) for …


Changes In Internet Search Term Popularity In Elder Mistreatment (2018-2023): Infodemiology Study Of Google Trends Data, Nicholas Sevey, Melvin Livingston, Kristin Lees-Haggerty, Olanike Ojelabi, Randi Campetti, Jason Burnett, Carolyn E Z Pickering, David Hancock, Rachit Sabharwal, Michael Brad Cannell Apr 2026

Changes In Internet Search Term Popularity In Elder Mistreatment (2018-2023): Infodemiology Study Of Google Trends Data, Nicholas Sevey, Melvin Livingston, Kristin Lees-Haggerty, Olanike Ojelabi, Randi Campetti, Jason Burnett, Carolyn E Z Pickering, David Hancock, Rachit Sabharwal, Michael Brad Cannell

Faculty, Staff and Student Publications

Background: Elder mistreatment (EM) is a significant public health problem that is frequently underdetected and underreported. Insufficient public recognition and engagement have been hypothesized as one contributor to this underreporting; however, few data sources exist to quantify public awareness or engagement with EM at the population level.

Objective: This study examined relative internet search interest in EM compared with other forms of abuse (child abuse and domestic violence) in the United States using Google Trends data.

Methods: We analyzed Google Trends data to compare the Relative Search Index (RSI) for the terms "elder abuse," "child abuse," and "domestic violence" in …


Designing Next-Generation Cardiometabolic Outcome Trials For Obesity Medicines, Elke Platz, Alexander Peikert, Biykem Bozkurt, Bart Van Der Schueren, Javed Butler, Ildiko Lingvay, Darren K Mcguire, Faiez Zannad, Naveed Sattar Apr 2026

Designing Next-Generation Cardiometabolic Outcome Trials For Obesity Medicines, Elke Platz, Alexander Peikert, Biykem Bozkurt, Bart Van Der Schueren, Javed Butler, Ildiko Lingvay, Darren K Mcguire, Faiez Zannad, Naveed Sattar

Faculty, Staff and Students Publications

The prevalence of obesity has reached pandemic proportions and is having enormous public health effects. Obesity increases the risk of type 2 diabetes, hypertension, chronic kidney disease, and cardiovascular (CV) disease including coronary artery disease, heart failure, atrial fibrillation, and stroke. Although initial randomized clinical trials of weight-loss strategies through diet and exercise or early medical therapies did not lead to improved CV outcomes, more recent trials using glucagon-like peptide-1 (GLP-1) receptor agonists in individuals with obesity have demonstrated CV benefits. At present, there are multiple cardiovascular outcome trials (CVOTs) of novel GLP-1 receptor agonists and investigational products targeting multiple …


Natural History Of 15 Patients With Autosomal Dominant Wfs1 Pathogenic Variants Associated With Sensorineural Hearing Loss And Optic Atrophy, Jessica P Roberts, Abby F Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano Apr 2026

Natural History Of 15 Patients With Autosomal Dominant Wfs1 Pathogenic Variants Associated With Sensorineural Hearing Loss And Optic Atrophy, Jessica P Roberts, Abby F Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano

2020-Current year OA Pubs

OBJECTIVE: Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, non-syndromic diabetes mellitus, and early-onset cataracts. These conditions are generally milder than autosomal recessive Wolfram syndrome, except for Hattersley-Urano syndrome. Despite growing recognition of these disorders, data on clinical progression and long-term outcomes remain limited. This study aims to expand knowledge on disease severity and progression in autosomal dominant WFS1-related disorders. APPROACH: Clinical data were obtained from the Washington University International Registry and Clinical Study for Wolfram Syndrome and …


Ms-Gator: Multi-Scale Graph Attention With Topological Reasoning For Segmentation And Classification Of Prostate Cancer Based On Gleason Scores Using Histopathology Images, Sujata Patil, Mahadeva Swamy, Kavitha Sooda, Rajanikanth Vadigepalli, Khalid Nazim Abdul Sattar, Md Rafeeq Apr 2026

Ms-Gator: Multi-Scale Graph Attention With Topological Reasoning For Segmentation And Classification Of Prostate Cancer Based On Gleason Scores Using Histopathology Images, Sujata Patil, Mahadeva Swamy, Kavitha Sooda, Rajanikanth Vadigepalli, Khalid Nazim Abdul Sattar, Md Rafeeq

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Prostate cancer is one of the prevalent and potentially fatal malignancies, affecting men globally. Accurate segmentation and classification of prostate cancer in histopathology images remain challenging due to complex tissue architecture, staining variability, and high inter-observer differences in manual diagnosis. To address these challenges, this research proposes a Multi-Scale Graph Attention with Topological Reasoning (MS-GATOR) for segmentation and classification of prostate cancer based on Gleason Scores (GS). The MS-GATOR incorporates topological reasoning with hierarchical biological structures by constructing a graph-based representation among three spatial scales such as nuclei, glands, and tissues using Delaunay triangulation to capture both geometric and photometric …


An Emerging Approach To Ibd Treatment: Personalized Nutrition Through Gut Microbiome Optimization., Kafayat Yusuf, Thomas M. Attard, Mazin Al-Kasspooles, Shahid Umar Apr 2026

An Emerging Approach To Ibd Treatment: Personalized Nutrition Through Gut Microbiome Optimization., Kafayat Yusuf, Thomas M. Attard, Mazin Al-Kasspooles, Shahid Umar

Manuscripts, Articles, Book Chapters and Other Papers

Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the gastrointestinal tract characterized by relapsing and remitting disease activity. Despite decades of research, a definitive cure for IBD remains elusive, as cycles of remission and flare-ups mark the disease course and often relies on long-term pharmacologic and supportive strategies. Increasing evidence indicates that diet and nutrition play an important role in modulating the outcomes of IBD. Although a wide range of dietary interventions has been explored, no universally effective approach has been established. Investigations have also proven that different dietary interventions can significantly affect clinical outcomes by altering gut …


Beyond The Evidence: The Cervical Collar As Cultural Artefact, Tim Nutbeam Apr 2026

Beyond The Evidence: The Cervical Collar As Cultural Artefact, Tim Nutbeam

Peninsula Medical School

Background: Cervical collar application remains prevalent in trauma care despite the absence of evidence of neurological benefit from spinal immobilisation. Clinical behaviour in this area has proven resistant to change, and the persistence of the collar requires explanation beyond the evidential debate alone. The fear of cervical injury has origins that predate clinical practice. Neurobiological preparedness theory suggests that threat associations linked to survival-relevant stimuli are more rapidly acquired and more durably maintained than other learned fears; the cervical region is a plausible candidate for this form of prepared response. This disposition has been reinforced by centuries of cultural practice: …


Inflammation- And Resolution-Programmed Myeloid Circuits Govern Therapeutic Resistance In Epithelial And Mesenchymal Triple-Negative Breast Cancer, Liqun Yu, Charlotte Rivas, Fengshuo Liu, Yichao Shen, Ling Wu, Zhan Xu, Yunfeng Ding, Xiaoxin Hao, Weijie Zhang, Hilda L Chan, Jun Liu, Bo Wei, Yang Gao, Luis Becerra-Dominguez, Yi-Hsuan Wu, Siyue Wang, Tobie D Lee, Xuan Li, Xiang Chen, David G Edwards, Xiang H-F Zhang Apr 2026

Inflammation- And Resolution-Programmed Myeloid Circuits Govern Therapeutic Resistance In Epithelial And Mesenchymal Triple-Negative Breast Cancer, Liqun Yu, Charlotte Rivas, Fengshuo Liu, Yichao Shen, Ling Wu, Zhan Xu, Yunfeng Ding, Xiaoxin Hao, Weijie Zhang, Hilda L Chan, Jun Liu, Bo Wei, Yang Gao, Luis Becerra-Dominguez, Yi-Hsuan Wu, Siyue Wang, Tobie D Lee, Xuan Li, Xiang Chen, David G Edwards, Xiang H-F Zhang

Faculty, Staff and Students Publications

Single-cell analysis of human triple-negative breast cancer revealed heterogeneous macrophage populations with opposing phenotypes - proinflammatory and proresolution of inflammation. Paradoxically, both subsets accumulated in therapy-refractory residual tumors but showed inverse correlations across patients, suggesting mutually exclusive resistance mechanisms. Inflammatory macrophages localized preferentially to epithelial-like tumors, whereas proresolution macrophages were enriched in mesenchymal-like tumors. Mouse models faithfully recapitulated these patterns. After chemoimmunotherapy, mesenchymal-like tumors expanded proresolution macrophages through phagocytosis/efferocytosis, ω-3 fatty acid uptake, and resolvin production. Macrophage-secreted C1q emerged as a principal antagonist of T cell function by targeting mitochondria and inducing metabolic dysfunction. By contrast, epithelial-like tumors accumulated inflammatory …


A Digital Diabetes Prevention Program For Hispanic Adolescents (Fit24+): Protocol For A Feasibility Randomized Controlled Trial, Erica G Soltero, Marbelly Partida, Sandra Mihail, Lizette Villanueva, Callie Lopez, Salma M Musaad, Teresia M O'Connor, Maria J Redondo, Matthew Buman, Debbe Thompson Apr 2026

A Digital Diabetes Prevention Program For Hispanic Adolescents (Fit24+): Protocol For A Feasibility Randomized Controlled Trial, Erica G Soltero, Marbelly Partida, Sandra Mihail, Lizette Villanueva, Callie Lopez, Salma M Musaad, Teresia M O'Connor, Maria J Redondo, Matthew Buman, Debbe Thompson

Faculty, Staff and Students Publications

Background: Hispanic youth are disproportionately impacted by obesity and subsequent type 2 diabetes (T2D) yet remain underrepresented in diabetes prevention research. Digital health interventions hold promise for increasing the accessibility to and engagement in disease prevention programming, particularly among high-risk populations. However, there is a significant gap in the literature regarding digital T2D prevention programs for adolescents or Hispanic youth.

Objective: The objective of this article is to describe the protocol for examining the feasibility of a 12-week digital diabetes prevention program among Hispanic adolescents with obesity.

Methods: Participants (N=40; aged 12-16 years) will be randomized (1:1) to a 12-week …


Decoding Immunotherapy Response Through Computational Modeling, Bingrui Li, Ruihan Luo, Kexin Huang, Jiajia Liu, Weiling Zhao, Xiaobo Zhou Apr 2026

Decoding Immunotherapy Response Through Computational Modeling, Bingrui Li, Ruihan Luo, Kexin Huang, Jiajia Liu, Weiling Zhao, Xiaobo Zhou

Faculty, Staff and Student Publications

Immunotherapy has seen success in treating patients with cancer, but variable responses underscore the need for effective patient stratification and therapy planning. Computational tools integrating multi-omics, imaging and machine learning have advanced, yet reliable personalized predictions remain challenging. This review analyzes the field through four converging paradigms: classical machine learning, deep learning, graph and network modeling, and mechanistic systems biology. We examine the evolution from correlational features to representation learning, relational inference, and causal simulation of tumor-immune dynamics, highlighting the shift towards multi-modal fusion and interpretable, clinically deployable models. By providing an integrated review of these computational tools, we hope …


Coverage, Traits, And Geographic Distribution Of Online Surgeon Reviews: Large-Scale Cross-Sectional Analysis, Michael Geng, Carlos Riveros, Yash B. Shah, Sanjana Ranganathan, Kai Fok, Renil Sinu Titus, Vatsala Mundra, Eusebio Luna Velasquez, Dharam Kaushik, Allan S. Detsky, Angela Jerath, Benjamin N. Breyer, Yusuke Tsugawa, Christopher J. D. Wallis, Raj Satkunasivam Apr 2026

Coverage, Traits, And Geographic Distribution Of Online Surgeon Reviews: Large-Scale Cross-Sectional Analysis, Michael Geng, Carlos Riveros, Yash B. Shah, Sanjana Ranganathan, Kai Fok, Renil Sinu Titus, Vatsala Mundra, Eusebio Luna Velasquez, Dharam Kaushik, Allan S. Detsky, Angela Jerath, Benjamin N. Breyer, Yusuke Tsugawa, Christopher J. D. Wallis, Raj Satkunasivam

Student Papers, Posters & Projects

BACKGROUND: The use of online physician rating platforms has significantly increased and has been shown to influence physician selection. There are limited data on the use of these platforms for rating surgeons.

OBJECTIVE: In this study, we sought to assess the geographic distribution of and patterns in rating scores of surgeons in the United States. Additionally, we examined rating volumes across different surgical specialties and the association between peer-nominated and patient-initiated ratings on online rating platforms in the United States.

METHODS: We conducted a cross-sectional study by identifying 201,154 surgeons in the United States via the National Plan and Provider …


Synthetic Lethality Of Decitabine Plus Atr Inhibition For Tp53-Mutated Aml, Jeremy T Baeten, Sumedha Agashe, Imene Tabet, Jack T Wooldridge, Amber Carter, Jamie N Butler, Christopher A Miller, Nicole Helton, Annabel Quinet, Kimberly B Johansson, Yichan Yang, Geoffrey L Uy, Alessandro Vindigni, Daniel C Link Apr 2026

Synthetic Lethality Of Decitabine Plus Atr Inhibition For Tp53-Mutated Aml, Jeremy T Baeten, Sumedha Agashe, Imene Tabet, Jack T Wooldridge, Amber Carter, Jamie N Butler, Christopher A Miller, Nicole Helton, Annabel Quinet, Kimberly B Johansson, Yichan Yang, Geoffrey L Uy, Alessandro Vindigni, Daniel C Link

2020-Current year OA Pubs

TP53 mutations are found in 10% to 15% of myeloid neoplasms and are associated with a dismal prognosis. Although hypomethylating agents (HMAs), such as decitabine, are active in TP53-mutated myeloid neoplasms (TP53-MN), mutation clearance is rarely complete and nearly all patients relapse. Molecular determinants of response to HMAs in TP53-MN are poorly understood. Here, we show that decitabine induces replicative stress with decreased replication fork progression, induction of single-strand DNA breaks, and activation of the ataxia telangiectasia mutated-Rad3-related (ATR) pathway. Resolution of decitabine-induced replication stress is impaired in TP53-mutated acute myeloid leukemia (AML) cells, representing a potential therapeutic vulnerability. Indeed, …


Herpes Simplex Virus Type 1 R-Loops Are Targets For Apobec-Mediated Mutagenesis, Márton Miskei, Dóra Varga, Lilla Hornyák, Éva Sipos, Éva Nagy, Qiuzhen Li, Zsolt Karányi, Zoltán Szabó, Rachel Deweerd, Abby M Green, Dávid Szüts, Eszter Csoma, Lóránt Székvölgyi Apr 2026

Herpes Simplex Virus Type 1 R-Loops Are Targets For Apobec-Mediated Mutagenesis, Márton Miskei, Dóra Varga, Lilla Hornyák, Éva Sipos, Éva Nagy, Qiuzhen Li, Zsolt Karányi, Zoltán Szabó, Rachel Deweerd, Abby M Green, Dávid Szüts, Eszter Csoma, Lóránt Székvölgyi

2020-Current year OA Pubs

APOBEC3 enzymes are key effectors of antiviral immunity that introduce mutations into viral genomes. We show that viral R-loops serve as preferred substrates for APOBEC3-mediated mutagenesis during herpes simplex virus type 1 (HSV-1) infection. APOBEC3 enzymes are recruited to viral R-loops, generating clustered C-to-T mutations in genes critical for viral assembly. Importantly, R-loops alone are not mutagenic, and APOBEC3 enzymes do not edit HSV-1 without an R-loop; mutagenesis occurs when R-loops and APOBEC3 enzymes interact. These findings identify endogenous R-loops formed during the HSV-1 life cycle as focal vulnerabilities and highlight R-loop-APOBEC3 coupling as a mechanism for antiviral mutagenesis.


Enhanced Dietary Monitoring Using Fecal Genomics For Childhood Malnutrition Interventions, Ammara Aqeel, Najeeha T Iqbal, Sanam Iram Soomro, Sheraz Ahmed, Teresa K Mcdonald, Olivia Osborne, Sharon Jiang, Nolan Ives, Kazi Ahsan, Fayaz Umrani, Michael J Barratt, Jeffrey I Gordon, Syed Asad Ali, Lawrence A David Apr 2026

Enhanced Dietary Monitoring Using Fecal Genomics For Childhood Malnutrition Interventions, Ammara Aqeel, Najeeha T Iqbal, Sanam Iram Soomro, Sheraz Ahmed, Teresa K Mcdonald, Olivia Osborne, Sharon Jiang, Nolan Ives, Kazi Ahsan, Fayaz Umrani, Michael J Barratt, Jeffrey I Gordon, Syed Asad Ali, Lawrence A David

2020-Current year OA Pubs

Ready-to-use therapeutic and supplementary foods (RUTF/RUSF) are a primary treatment for childhood malnutrition in Community Management of Acute Malnutrition (CMAM) programs. However, measuring intervention compliance is labor intensive and unreliable. We applied FoodSeq, a fecal genomic dietary assessment biomarker, in malnourished infants (3-15 months) from Matiari, Pakistan. FoodSeq identified a significant increase in the abundance of DNA from chickpea, a primary RUSF ingredient, during RUSF administration and captured region-specific complementary feeding practices, including age-inappropriate feeding practices such as wide-spread tea consumption. Our findings highlight the potential of dietary genomics as an empirical and scalable tool for compliance monitoring and dietary …


Global Impact Of Germline Structural Variation On The Cancer Proteome, Fengju Chen, Yiqun Zhang, Luis F Paulin, Darshan S Chandrashekar, Sooryanarayana Varambally, Fritz J Sedlazeck, Chad J Creighton Apr 2026

Global Impact Of Germline Structural Variation On The Cancer Proteome, Fengju Chen, Yiqun Zhang, Luis F Paulin, Darshan S Chandrashekar, Sooryanarayana Varambally, Fritz J Sedlazeck, Chad J Creighton

Faculty, Staff and Students Publications

Proteome and transcriptome data combined can help assess the relevance of non-coding germline variants. Here, we combine germline Structural Variants (SVs) with mass spectrometry-based proteomics on tumors from 1637 cancer patients spanning various tumor tissues of origin to determine the extent SV breakpoint patterns involve differential protein expression of nearby genes. Rare and singleton SVs disrupting protein expression of known cancer susceptibility genes collectively involve 6% of patients. About 24% of the hundreds of genes with SV-associated non-coding cis-regulatory alterations at the mRNA level are similarly associated at the protein level. Both rare and common SVs may associate with differential …


Dapk2 Regulates Pkm2 Phosphorylation At Threonine 45 To Facilitate Disturbed Flow-Induced Atherosclerosis, Shuai Guo, Long Xu, Yixin Chen, Yuan Zhao, Yuting Zhang, Runfa Yu, Kaixiang Cao, Litao Wang, Wenjia Ai, Jiang-Yun Luo, Lu Lu, Jun He, Yuan Zhou, Li Wang, Andrew H Baker, Yuqing Huo, Yiming Xu Apr 2026

Dapk2 Regulates Pkm2 Phosphorylation At Threonine 45 To Facilitate Disturbed Flow-Induced Atherosclerosis, Shuai Guo, Long Xu, Yixin Chen, Yuan Zhao, Yuting Zhang, Runfa Yu, Kaixiang Cao, Litao Wang, Wenjia Ai, Jiang-Yun Luo, Lu Lu, Jun He, Yuan Zhou, Li Wang, Andrew H Baker, Yuqing Huo, Yiming Xu

Faculty, Staff and Students Publications

Background: Oscillatory shear stress (OSS), resulting from disturbed blood flow, is implicated in atherosclerotic plaque formation by incompletely understood mechanisms. This study aims to elucidate the involvement of death-associated protein kinase (DAPK) 2 in OSS-induced endothelial cell (EC) activation and atherosclerosis.

Methods: Publicly available resources, including genome-wide microarray, RNA sequencing, and single-cell RNA sequencing, were utilized to identify key OSS-sensitive regulatory factors. Techniques such as mass spectrometry, immunoprecipitation, proximity ligation assay, and RNA sequencing were employed to identify pyruvate kinase M2 (PKM2) as the binding protein of DAPK2 and determine the specific site of PKM2 phosphorylation by DAPK2. To assess …


International Consensus On The Evaluation And Management Of Hypothalamic Hamartomas: Results From A Modified Delphi Survey, Nathan T Cohen, Xiaotong Li, Madison M Berl, Chima O Oluigbo, Hiroshi Shirozu, Samuel F Berkovic, Margaret Zacharin, Wirginia Maixner, Andreas Schulze-Bonhage, Kerstin Klotz, Nicola Specchio, Sarah Ferrand-Sorbets, Christine Bulteau, Alexis A Arzimanoglou, Jean Regis, J Helen Cross, Martin M Tisdall, Hanna Richardson, Arthur Cukiert, Cristine Cukiert, Julia Jacobs, Elizabeth J Donner, Phillip L Pearl, John F Kerrigan, Angus A Wilfong, Kevin C J Yuen, Dennis J Dlugos, Daniel Curry, Irfan Ali, John Ragheb, Lisa Soeby, Erica Webster, William D Gaillard Apr 2026

International Consensus On The Evaluation And Management Of Hypothalamic Hamartomas: Results From A Modified Delphi Survey, Nathan T Cohen, Xiaotong Li, Madison M Berl, Chima O Oluigbo, Hiroshi Shirozu, Samuel F Berkovic, Margaret Zacharin, Wirginia Maixner, Andreas Schulze-Bonhage, Kerstin Klotz, Nicola Specchio, Sarah Ferrand-Sorbets, Christine Bulteau, Alexis A Arzimanoglou, Jean Regis, J Helen Cross, Martin M Tisdall, Hanna Richardson, Arthur Cukiert, Cristine Cukiert, Julia Jacobs, Elizabeth J Donner, Phillip L Pearl, John F Kerrigan, Angus A Wilfong, Kevin C J Yuen, Dennis J Dlugos, Daniel Curry, Irfan Ali, John Ragheb, Lisa Soeby, Erica Webster, William D Gaillard

Faculty, Staff and Students Publications

Background and objectives: Hypothalamic hamartomas (HH) are rare brain lesions associated with epilepsy and numerous comorbidities. Worldwide treatment is varied. There is a paucity of high-quality evidence to guide treatment. This study aimed to establish expert consensus on the evaluation and management of HH.

Methods: A modified Delphi survey was designed by the Medical Advisory Board of Hope for Hypothalamic Hamartomas and was conducted among 17 International League Against Epilepsy level II epilepsy surgery centers. The survey included 257 questions in round 1 and 81 refined questions in round 2, covering domains of diagnosis, imaging, medical and surgical treatment, neuropsychological …


Experiences And Service-Uptake Factors Of Receiving And Providing Care For Meningitis And Its Sequelae: A Qualitative Systematic Review, Margarita Andreeva, Maria Pyatnitskaya, Karina Kochneva, Ekaterina Sviatskaia, Maria Spryshkova, Melissa Meyer, Dina Baimukhambetova, Mark Kosenko, Aigun Mursalova, Nina Avdeenko, Elena Kondrikova, Jonathan Zheng, Ka Yan Cheung, Audrey Dunn Galvin, Tom Jewell, Zoe Moula, Sarah Neill, Mikhail Zinchuk, Alla Guekht, Daniel Munblit Apr 2026

Experiences And Service-Uptake Factors Of Receiving And Providing Care For Meningitis And Its Sequelae: A Qualitative Systematic Review, Margarita Andreeva, Maria Pyatnitskaya, Karina Kochneva, Ekaterina Sviatskaia, Maria Spryshkova, Melissa Meyer, Dina Baimukhambetova, Mark Kosenko, Aigun Mursalova, Nina Avdeenko, Elena Kondrikova, Jonathan Zheng, Ka Yan Cheung, Audrey Dunn Galvin, Tom Jewell, Zoe Moula, Sarah Neill, Mikhail Zinchuk, Alla Guekht, Daniel Munblit

School of Nursing and Midwifery

Background: Meningitis is a life-threatening condition with substantial morbidity and mortality, especially in low- and middle-income countries (LMICs). While quantitative research has enhanced the understanding of diagnostic and treatment efficacy, qualitative data regarding the lived experiences remain underexplored. This systematic review synthesises qualitative evidence on the experiences of patients, caregivers, and healthcare providers regarding meningitis diagnosis, treatment, and care, as well as the barriers and facilitators influencing service uptake and provision. The review aimed to inform the development of World Health Organization guidelines for improving meningitis care. Methods: This systematic review was registered in PROSPERO (CRD42024514413). A comprehensive search of …


Engineering Of Genetically Encoded Programmable Calcium Channel Inhibitory Binders, Xiaoxuan Liu, Sher Ali, Tien-Hung Lan, Decheng Wang, Brendan Mckee, Tatsuki Nonomura, Siyao Liu, Feng Zhao, Michael X Zhu, Yun Huang, Qing Deng, Guolin Ma, Yubin Zhou Apr 2026

Engineering Of Genetically Encoded Programmable Calcium Channel Inhibitory Binders, Xiaoxuan Liu, Sher Ali, Tien-Hung Lan, Decheng Wang, Brendan Mckee, Tatsuki Nonomura, Siyao Liu, Feng Zhao, Michael X Zhu, Yun Huang, Qing Deng, Guolin Ma, Yubin Zhou

Faculty, Staff and Student Publications

Store-operated Ca2+ release-activated Ca2+ (CRAC) channels, composed of STIM and ORAI, are essential for immune and developmental processes, and their dysregulation underlies channelopathies such as Stormorken syndrome. Here, we report the engineering of genetically encoded CRAC channel inhibitory binders (CRABs) derived from the ORAI C-terminal tail. Guided by deep mutational scanning, we optimize a membrane-anchored CRAB variant that potently inhibits Ca2+ influx and NFAT signaling, and rescues thrombocytopenia-like phenotypes in a zebrafish model of Stormorken syndrome. To enable tunable inhibition, we further design oligomeric, optogenetic (Opto-CRAB), and chemogenetic (Chemo-CRAB) variants, providing graded and real-time control of CRAC activity. Chemo-CRAB further …


Acute Traumatic Aortic Injury: What The Radiologist Needs To Know, Kristina Ramirez-Garcia, Catalina Jaramillo, Emma Ferguson, Jason Au, Erika Odisio, Gustavo S Oderich, Daniel Ocazionez, Cihan Duran, Thanila Macedo Apr 2026

Acute Traumatic Aortic Injury: What The Radiologist Needs To Know, Kristina Ramirez-Garcia, Catalina Jaramillo, Emma Ferguson, Jason Au, Erika Odisio, Gustavo S Oderich, Daniel Ocazionez, Cihan Duran, Thanila Macedo

Faculty, Staff and Students Publications

Acute traumatic aortic injury (ATAI) is a rare but life-threatening consequence of blunt trauma that requires prompt diagnosis and accurate imaging assessment. This review presents an imaging-based approach to ATAI, with emphasis on computed tomography angiography (CTA) as the first-line modality for diagnosis, grading, treatment planning, and follow-up. CTA enables the detection of both direct and indirect signs while also allowing for the assessment of lesion severity, extent, and associated findings that may influence management. Familiarity with common mimics and anatomic variants improves diagnostic confidence and helps avoid false positive interpretations. Careful protocol optimization, including multiphasic acquisition, bolus timing, and …


Etalanetug (E2814) In Dominantly Inherited Alzheimer's Disease: An Open-Label Phase 1b/2 Study To Assess Safety And Target Engagement In Participants With Mild To Moderate Cognitive Impairment, Erica Andreozzi, Kanta Horie, Nicolas R Barthélemy, Brian A Gordon, Shaney Flores, Tammie L S Benzinger, Eric Mcdade, Randall J Bateman, Et Al. Apr 2026

Etalanetug (E2814) In Dominantly Inherited Alzheimer's Disease: An Open-Label Phase 1b/2 Study To Assess Safety And Target Engagement In Participants With Mild To Moderate Cognitive Impairment, Erica Andreozzi, Kanta Horie, Nicolas R Barthélemy, Brian A Gordon, Shaney Flores, Tammie L S Benzinger, Eric Mcdade, Randall J Bateman, Et Al.

2020-Current year OA Pubs

INTRODUCTION: Etalanetug (E2814) is designed to delay the clinical progression of Alzheimer's disease (AD) by binding to the microtubule binding region (MTBR) of tau implicated in seeding and spreading of tau pathology. Dominantly inherited Alzheimer's disease (DIAD) is a rare form of the disease (<  1%), having similar changes in the tau distribution and pathology to sporadic AD. Herein, we report the safety, pharmacology and biomarker results of the etalanetug Study 103 in DIAD patients.

METHODS: Study 103 enrolled participants with mild-to-moderate cognitive impairment due to DIAD who received etalanetug intravenously every 4 weeks escalating from 750 mg, 1500 mg, 3000 mg, to 4500 mg. After ascending to 4500 mg, patients received 4500 mg for up to 108 weeks. Tau pathology biomarkers, ptau217 and MTBR-tau243 were measured in CSF. Additional …


Shift In Caregivers Occupations For Patients With Cerebrovascular Accidents, Hannah M. Ninan, Zeida Gutierrez Apr 2026

Shift In Caregivers Occupations For Patients With Cerebrovascular Accidents, Hannah M. Ninan, Zeida Gutierrez

Spring 2026 OTD Capstone Symposium

The purpose of this capstone is to research the impact of assuming the caregiver role for individuals recovering from a CVA on the caregivers’ occupations and their occupational balance. Acquiring this information allows for a deeper understanding of its impacts and informs the implementation of support strategies and interventions to mitigate burnout within the first year of caregiving.


Grade School Population With Autism And The Development Of Social Emotional Skills, Sabrina Cheney, Cynthia Haynes Apr 2026

Grade School Population With Autism And The Development Of Social Emotional Skills, Sabrina Cheney, Cynthia Haynes

Spring 2026 OTD Capstone Symposium

The purpose was to create and evaluate the efficacy of an occupational therapy informed program that addressed social skills, promoted emotional well-being, and fostered a sense of belonging for grade school students with ASD by enhancing communication, interaction, and relationship-building skills.


Executive Functioning And Retained Primitive Reflexes In School-Aged Children, Haley A. Kane, Zeida Gutierrez Apr 2026

Executive Functioning And Retained Primitive Reflexes In School-Aged Children, Haley A. Kane, Zeida Gutierrez

Spring 2026 OTD Capstone Symposium

This project aimed to provide teachers with education on EF and RPR and to improve access to educational materials. The education provided definitions of EF and RPR, what deficits in each may present in the classroom, and classroom strategies to mitigate the impact of the skills affected by these deficits. This educational program improved understanding of EF and RPR, evidenced by knowledge-based questions. These materials also increased awareness of RPR and their effects on students, as evidenced by responses to short-answer questions. These results align with the long-term goal of improving the academic performance of students impacted by EF deficits …


Single-Cell Tcr Mapping Reveals Spatially Coordinated T Cell States In Head And Neck Cancer, Kelli A Mccord, Emerald Kan, Sean Hyslop, Amanda Y Xia, Colby J Hofferek, James S Lewis, Andreas Wieland, David J Hernandez, Vlad C Sandulache, William H Hudson Apr 2026

Single-Cell Tcr Mapping Reveals Spatially Coordinated T Cell States In Head And Neck Cancer, Kelli A Mccord, Emerald Kan, Sean Hyslop, Amanda Y Xia, Colby J Hofferek, James S Lewis, Andreas Wieland, David J Hernandez, Vlad C Sandulache, William H Hudson

Faculty, Staff and Students Publications

Current spatial T cell receptor (TCR) profiling approaches lack the resolution needed to link clonal identity, transcriptional state, and spatial positioning of individual T cells in the tumor microenvironment. Here, we introduce a spatial TCR profiling strategy that resolves individual T cell clones together with their transcriptional states at single-cell resolution and applied the method to human head and neck squamous cell carcinoma. Presumed tumor-specific T cells were broadly dispersed throughout the tumor microenvironment, and cells of the same clone occupied distinct transcriptional states in different locations: Immune-rich regions contained more plastic or progenitor cells, whereas tumor-dense regions were enriched …


Constitutive Ampk Activation Prevents Hepatocellular Carcinoma Development Through Inhibition Of Hnf4Α Activity, Zhen Sun, Bernard Linares, Cassidy Urdiales, Fiyad Alsarmi, Boyuan Sang, Nagireddy Putluri, Jeanine L Van Nostrand Apr 2026

Constitutive Ampk Activation Prevents Hepatocellular Carcinoma Development Through Inhibition Of Hnf4Α Activity, Zhen Sun, Bernard Linares, Cassidy Urdiales, Fiyad Alsarmi, Boyuan Sang, Nagireddy Putluri, Jeanine L Van Nostrand

Faculty, Staff and Students Publications

Hepatocellular carcinoma (HCC) is a major cause of cancer-related mortality and is largely driven by metabolic disorders such as obesity and type 2 diabetes. The AMP-activated protein kinase (AMPK) is a master regulator of metabolism, and its activation has been proposed as a therapeutic strategy for treating metabolic disorders. However, although AMPK activity is down-regulated in HCC, the precise role of AMPK in HCC development has not been clearly delineated. Here, we investigated the ability of constitutive AMPK activation to prevent HCC development using a constitutively active AMPK transgenic mouse model and a pharmacological AMPK activator. We observed that AMPK …