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Cardiovascular Disease Incidence And Cancer Risk In Two Large European Prospective Cohorts, Emma Fontvieille, Vivian Viallon, Laia Peruchet-Noray, Quan Gan, N. Charlotte Onland-Moret, Yvonne Koop, Anne Tjønneland, Nicola Bondonno, Verena Katzke, Rudolf Kaaks, Matthias B. Schulze, Catarina Schiborn, Calogero Saieva, Vittorio Simeon, Claudia Agnoli, Rosario Tumino, Fulvio Ricceri, Leila Luján-Barroso, Maria José Sánchez, Conchi Moreno-Iribas, Konstantinos K. Tsilidis, Marc J. Gunter, Adam Butterworth, Elio Riboli, Heinz Freisling, Pietro Ferrari Sep 2026

Cardiovascular Disease Incidence And Cancer Risk In Two Large European Prospective Cohorts, Emma Fontvieille, Vivian Viallon, Laia Peruchet-Noray, Quan Gan, N. Charlotte Onland-Moret, Yvonne Koop, Anne Tjønneland, Nicola Bondonno, Verena Katzke, Rudolf Kaaks, Matthias B. Schulze, Catarina Schiborn, Calogero Saieva, Vittorio Simeon, Claudia Agnoli, Rosario Tumino, Fulvio Ricceri, Leila Luján-Barroso, Maria José Sánchez, Conchi Moreno-Iribas, Konstantinos K. Tsilidis, Marc J. Gunter, Adam Butterworth, Elio Riboli, Heinz Freisling, Pietro Ferrari

Research outputs 2022 to 2026

Our study investigated the association between incident cardiovascular disease (CVD) and subsequent cancer risk in two large European prospective cohorts. We included 568,926 adults from the European Prospective Investigation into Cancer and Nutrition and United Kingdom Biobank, all of whom were free of CVD, cancer and type 2 diabetes at baseline. Multivariable Cox proportional hazards regression models were used to estimate cancer hazard ratios (HRs) and 95% confidence intervals (CIs) in relation to incident CVD events. CVD was treated as a time-varying exposure, and models accounted for time since CVD diagnosis and other lifestyle factors. Study-specific estimates were pooled using …


Bridging The Dermatology Divide: A Literature Review Of Artificial Intelligence–Enabled Point-Of-Care Tools For Skin Cancer Detection In Primary Care, Jared Hensley, Smaran Marupudi, Maria Villegas Sep 2026

Bridging The Dermatology Divide: A Literature Review Of Artificial Intelligence–Enabled Point-Of-Care Tools For Skin Cancer Detection In Primary Care, Jared Hensley, Smaran Marupudi, Maria Villegas

School of Medicine Publications

The United States faces a critical dermatology workforce shortage, with more than 60% of counties lacking specialist access. Primary care providers (PCPs) are often tasked with managing suspicious skin lesions but demonstrate lower diagnostic accuracy than dermatologists. Artificial intelligence (AI) tools offer potential solutions, and meta-analytic evidence demonstrates that AI assistance improves PCP sensitivity by 13 percentage points and specificity by 11 percentage points. Yet only 1 Food and Drug Administration–authorized device (January 2024) is cleared for nondermatologist use in the United States. This device achieves 96% sensitivity but only 21% specificity, meaning most positive results are false alarms. A …


Cracking The Code: Genotype-Phenotype Correlation Models In Sarcoglycanopathies, Leonela Luce, Conrad C Weihl, Et Al. Sep 2026

Cracking The Code: Genotype-Phenotype Correlation Models In Sarcoglycanopathies, Leonela Luce, Conrad C Weihl, Et Al.

2020-Current year OA Pubs

OBJECTIVE: Sarcoglycanopathies are among the most severe limb-girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype-phenotype correlations. This study aimed to establish accurate genotype-phenotype correlations for LGMDR3, LGMDR4, and LGMDR5.

METHODS: We analyzed the largest sarcoglycanopathy cohort to date (n = 541). Clinical data, including age at symptom onset and loss of ambulation, were collected and used to define phenotype severity. Predictive models were developed considering the impact of non-truncating variants on secondary …


Irs: Iterative Reference Selection Improves Normalization Of Microbiome Sequencing Data, Yiming Shi, Lili Liu, Jun Chen, Kristine M Wylie, Todd N Wylie, Sung Hee Park, Ruiwen Zhou, Yin Cao, Stephanie A Fritz, Molly J Stout, Maria Cristina Vazquez Guillamet, Lei Liu Sep 2026

Irs: Iterative Reference Selection Improves Normalization Of Microbiome Sequencing Data, Yiming Shi, Lili Liu, Jun Chen, Kristine M Wylie, Todd N Wylie, Sung Hee Park, Ruiwen Zhou, Yin Cao, Stephanie A Fritz, Molly J Stout, Maria Cristina Vazquez Guillamet, Lei Liu

2020-Current year OA Pubs

Microbiome studies often seek to determine how the absolute abundances of individual taxa change across biological conditions, yet sequencing read counts are sample-specific scaled representations of those abundances. Because sampling depth can differ across samples, fold changes calculated directly from sequencing read counts do not generally represent absolute-abundance fold changes. Normalization methods attempt to account for these between-sample differences in sampling depth, but their accuracy depends on the reference used. In particular, total-sum scaling uses all taxa as the reference and can introduce compositional bias. Reference-based methods instead rely on taxa that are stable across conditions, but contamination of the …


Best Practices For Supporting Occupational Therapy Students With Disabilities During Clinical Education: Results From A Three-Round Delphi Study, Courtney Gohean, Katie Mclaughlin, Aster Harrison Sep 2026

Best Practices For Supporting Occupational Therapy Students With Disabilities During Clinical Education: Results From A Three-Round Delphi Study, Courtney Gohean, Katie Mclaughlin, Aster Harrison

Department of Occupational Therapy Faculty Papers

INTRODUCTION: Disabled occupational therapy students face systemic barriers in clinical education. Although legal mandates require reasonable accommodations, implementation is often inconsistent, and few standardized guidelines exist for fieldwork education. This study is aimed at establishing best practices for supporting occupational therapy and occupational therapy assistant students with disabilities during fieldwork.

MATERIALS AND METHODS: A three-round Delphi study was conducted with a panel of 30 experts, including disabled occupational therapy students, disabled occupational therapy practitioners, academic fieldwork coordinators (AFWCs), fieldwork educators (FWEs), disability services staff, and researchers. In Round 1, participants answered open-ended questions about challenges, accommodations, and environmental supports. Responses …


Closing Gaps In Urban Trauma Systems: Outcomes Of An Inner-City Community Emergency Department Multidisciplinary Trauma Protocol, Kory S. London, Alan Cherney, Sulabh Neupane, H. Alex Tomlinson, Joseph Cervone, Elaine Qian, Casey Fishman, Jennifer Davis, Sean Mcgann, Varsha Goswami, George Koenig, Frederick Randolph Sep 2026

Closing Gaps In Urban Trauma Systems: Outcomes Of An Inner-City Community Emergency Department Multidisciplinary Trauma Protocol, Kory S. London, Alan Cherney, Sulabh Neupane, H. Alex Tomlinson, Joseph Cervone, Elaine Qian, Casey Fishman, Jennifer Davis, Sean Mcgann, Varsha Goswami, George Koenig, Frederick Randolph

Department of Emergency Medicine Faculty Papers

BACKGROUND: Non-trauma center (NTC) emergency departments (EDs) play regular but underappreciated roles in the management of severely injured patients, yet many lack formal protocols to guide care. We describe the implementation and outcomes of a structured trauma evaluation and transfer protocol at an urban NTC emergency department.

METHODS: A multidisciplinary trauma protocol was implemented on April 1, 2023, at an urban NTC, supported by a Level I trauma center, 2.5 miles apart. The study period ran from January 1, 2019, to June 30, 2025. Using pre-post study design, 62 patients treated prior to implementation were compared with 49 post-intervention patients. …


A National Study Of Tetanus Vaccine Knowledge, Receipt And Acceptance Among Emergency Department Patients, Francesco Sergi, Elisa Vaezazizi, Shaokui Ge, Christopher Alvarez, Jesus Torres, Brian Chinnock, Michael Gottlieb, Vijaya Arun Kumar, Kristin L. Rising, Efrat Kean, Stephanie Eucker, Robert M. Rodriguez Sep 2026

A National Study Of Tetanus Vaccine Knowledge, Receipt And Acceptance Among Emergency Department Patients, Francesco Sergi, Elisa Vaezazizi, Shaokui Ge, Christopher Alvarez, Jesus Torres, Brian Chinnock, Michael Gottlieb, Vijaya Arun Kumar, Kristin L. Rising, Efrat Kean, Stephanie Eucker, Robert M. Rodriguez

Department of Emergency Medicine Faculty Papers

OBJECTIVE: The Tetanus, Diphtheria, Pertussis (Tdap, "tetanus") vaccine is recommended for adults every 10 years. In a national sample of adult emergency department (ED) patients, we sought to determine (1) knowledge and up-to-date status of the tetanus vaccine; (2) reasons for nonreceipt of the vaccine; (3) vaccine acceptability if offered in the ED; and (4) reasons for nonacceptance in the ED if offered.

METHODS: This was a cross-sectional survey study among non-critically ill adults at 10 US EDs, asking questions about knowledge, receipt, and acceptability of the tetanus vaccine. Vaccine receipt was determined by self-report. Aggregate responses are reported as …


Opioid Dispensing Volume And Per-Patient Intensity In Sickle Cell Disease, Kevin Y Xu, Brandon K Attell, Joanna L Buss, Tashalee R Brown, Charles R Jonassaint, Richard A Grucza, Allison A King, Max Jordan Nguemeni Tiako Sep 2026

Opioid Dispensing Volume And Per-Patient Intensity In Sickle Cell Disease, Kevin Y Xu, Brandon K Attell, Joanna L Buss, Tashalee R Brown, Charles R Jonassaint, Richard A Grucza, Allison A King, Max Jordan Nguemeni Tiako

2020-Current year OA Pubs

IMPORTANCE: Opioids remain central to management of acute and chronic pain in sickle cell disease (SCD). Opioid dispensing declined over the 2010s amid opioid stewardship efforts, but patterns since 2020 are less clear. Analyses aggregating opioids into morphine milligram equivalents (MME) may obscure agent-specific patterns.

OBJECTIVE: To characterize opioid dispensing volume and per-recipient frequency, duration, and dose among individuals with SCD.

DESIGN, SETTING, AND PARTICIPANTS: A retrospective cohort study of commercially insured and Medicaid-enrolled patients with SCD using the Merative MarketScan databases across 3 periods from January 2011 to February 2016, March 2016 to December 2020, and January 2021 to …


Parent-Child Neural Dynamics During A Stressful Task: Probing Associations With Temperament And Anxiety, Joscelin Rocha-Hidalgo, Harmony Nguyen, Dakota Reis, Denny Schaedig, Kahlil I Thompson, Susan B Perlman, Koraly E Pérez-Edgar Sep 2026

Parent-Child Neural Dynamics During A Stressful Task: Probing Associations With Temperament And Anxiety, Joscelin Rocha-Hidalgo, Harmony Nguyen, Dakota Reis, Denny Schaedig, Kahlil I Thompson, Susan B Perlman, Koraly E Pérez-Edgar

2020-Current year OA Pubs

Dynamic social interactions between parents and children can contribute to anxiety risk, amplifying shared genetic risk. Research has focused on observed behaviors to explain intergenerational transmission. Neural synchrony may contribute as a biological conduit for behavioral transmission of risk. We examined 109 parent-child dyads (


Spinal Cord Imaging For Multiple Sclerosis: Advances, Priorities, And Opportunities, Cornelia Laule, Matthew R Brier, Et Al. Sep 2026

Spinal Cord Imaging For Multiple Sclerosis: Advances, Priorities, And Opportunities, Cornelia Laule, Matthew R Brier, Et Al.

2020-Current year OA Pubs

The spinal cord plays a central role in the pathophysiology and clinical manifestations of multiple sclerosis (MS), yet remains under-studied compared with the brain. This review summarizes key insights from the 2025 North American Imaging in MS Spinal Cord Imaging Workshop, highlighting recent advances, ongoing challenges, and future opportunities in MS spinal cord imaging. We review pathological studies and outline the clinical relevance of spinal cord lesions and atrophy for diagnosis, prognosis, and disease monitoring, highlighting emerging biomarkers of progression independent of relapse activity. Correlations between magnetic resonance imaging, histopathology, and clinical outcomes support the validation and translational potential of …


Energy Conservation In Mri: Sequence Selection And Operational Strategies, Nathan Scherer, Felicia Wang, Andrew L Chang, Mariam Malik, Anna Schroeder, Heather Craig, Benjamin E Northrup Sep 2026

Energy Conservation In Mri: Sequence Selection And Operational Strategies, Nathan Scherer, Felicia Wang, Andrew L Chang, Mariam Malik, Anna Schroeder, Heather Craig, Benjamin E Northrup

2020-Current year OA Pubs

RATIONALE AND OBJECTIVES: The healthcare system accounts for approximately 9.8% of the United States' (U.S.) greenhouse gas emissions, much of which is due to imaging, particularly magnetic resonance imaging (MRI). This study investigates the components of MRI energy consumption and compares sequences that may be interchangeable in clinical practice. Although the greatest potential for decreasing energy expenditure lies in reduction of inappropriate imaging and optimizing energy consumption of idle MRI equipment, sequence substitution offers an underexplored solution that can potentially be implemented without changing practice patterns or capital expenditure.

MATERIALS AND METHODS: MRI energy expenditure of one machine was monitored …


Implementation Of A New Mri Contrast Policy At A Large Hospital System: Access To Contrast-Enhanced Mri And Development Of Nsf In Patients With Renal Insufficiency, Daniel R Ludwig, Fan Zhang, Brittany Minor, Tammie L S Benzinger, Anup S Shetty Sep 2026

Implementation Of A New Mri Contrast Policy At A Large Hospital System: Access To Contrast-Enhanced Mri And Development Of Nsf In Patients With Renal Insufficiency, Daniel R Ludwig, Fan Zhang, Brittany Minor, Tammie L S Benzinger, Anup S Shetty

2020-Current year OA Pubs

RATIONALE AND OBJECTIVES: To evaluate access to contrast-enhanced MRI among patients with acute or chronic renal failure after implementation of a more permissive contrast policy and determine whether any patients developed nephrogenic systemic fibrosis (NSF).

MATERIALS AND METHODS: This retrospective study included all patients who had an order for contrast-enhanced MRI in our healthcare system between July 1st, 2023 and June 30th, 2025. Each exam was categorized as completed or cancelled, and multivariable analysis was performed to identify factors associated with exam cancellation. Potential diagnoses of NSF were identified by searching the problem list and encounter diagnoses using ICD-10 codes. …


Perioperative Depression And Anxiety Care In Older Patients: A Randomized Clinical Trial, Joanna Abraham, Katherine J Holzer, Simon Haroutounian, Bethany Pennington, Ana Baumann, Ryan Calfee, Theresa Cordner, Kenneth E Freedland, Thomas Kannampallil, Benjamin Kozower, Emily Lenard, J Philip Miller, Mary Politi, Michael Yingling, Michael S Avidan, Eric J Lenze Sep 2026

Perioperative Depression And Anxiety Care In Older Patients: A Randomized Clinical Trial, Joanna Abraham, Katherine J Holzer, Simon Haroutounian, Bethany Pennington, Ana Baumann, Ryan Calfee, Theresa Cordner, Kenneth E Freedland, Thomas Kannampallil, Benjamin Kozower, Emily Lenard, J Philip Miller, Mary Politi, Michael Yingling, Michael S Avidan, Eric J Lenze

2020-Current year OA Pubs

IMPORTANCE: Depression and anxiety are common among older adults undergoing surgery and are associated with adverse postoperative outcomes. However, effective tailored perioperative mental health interventions are lacking.

OBJECTIVE: To evaluate a perioperative intervention to optimize mental health.

DESIGN, SETTING, AND PARTICIPANTS: A single-blind, hybrid, type 1, effectiveness-implementation randomized clinical trial was conducted (November 1, 2022, to March 31, 2025), with 3-month postoperative follow-up, at a US academic and community practice hospital network. Participants were 60 years or older; scheduled for cardiac, oncologic, or orthopedic surgery; and had clinically meaningful symptoms of depression and/or anxiety based on the Patient Health Questionnaire-Anxiety …


Comparison Of Safety And Efficacy Of Lower-Intensity Versus Standard Unfractionated Heparin Infusion Nomograms For Extracranial Venous Thromboembolism In The Neurological Intensive Care Unit, Abdullah M Hakoun, Megha Gupta, Rajat Dhar, Mahta Mardani, Fatih Koc, Salah G Keyrouz Sep 2026

Comparison Of Safety And Efficacy Of Lower-Intensity Versus Standard Unfractionated Heparin Infusion Nomograms For Extracranial Venous Thromboembolism In The Neurological Intensive Care Unit, Abdullah M Hakoun, Megha Gupta, Rajat Dhar, Mahta Mardani, Fatih Koc, Salah G Keyrouz

2020-Current year OA Pubs

BACKGROUND: Anticoagulation for acute venous thromboembolism (VTE) in the neurological intensive care unit is challenging because patients with acute brain injury or recent neurosurgery are at high risk for hemorrhagic complications. Unfractionated heparin infusions are commonly used, sometimes with lower activated partial thromboplastin time targets, but the safety and effectiveness of lower-intensity UFH nomograms remain poorly defined.

METHODS: We performed a retrospective single-center study of patients diagnosed with acute extracranial VTE, including deep venous thrombosis and/or pulmonary embolism, between June 2018 and April 2024. Patients were grouped by treatment strategy: standard-intensity UFH targeting aPTT 60-100 s, lower-intensity UFH targeting aPTT …


Pediatric Hypertension Prevalence With 1 Vs. 2 Vs. 3 Within-Visit Blood Pressure Readings (Nhanes 2013-2020), Sandeep K Riar, Donald L Batisky, Scott Gillespie, Andrew M South Sep 2026

Pediatric Hypertension Prevalence With 1 Vs. 2 Vs. 3 Within-Visit Blood Pressure Readings (Nhanes 2013-2020), Sandeep K Riar, Donald L Batisky, Scott Gillespie, Andrew M South

2020-Current year OA Pubs

To compare hypertension prevalence using 'initial' blood pressure (BP), 'subsequent' BP (averaged second and third readings) and 'total' BP (averaged three readings), we included 8-17-year-old youth with three BP readings from NHANES 2013-2020. From 2013-2016, BP was obtained using auscultation (manual protocol, MP) and subsequently, using oscillometry (automated protocol, AP). We excluded subjects with 'zero' diastolic blood pressure (DBP). In 5656 subjects, clinical hypertension (high systolic blood pressure [SBP] and/or DBP) prevalence was highest with 'initial' BP (350/5 642, 6.2% [95% CI 5.6-6.9%]), lower with 'subsequent' BP (289/5 642, 5.1% [4.6-5.7%], p <  0.001), and lowest with 'total' BP (251/5 642, 4.4% [3.9-5.0%], p <  0.001). Both MP and AP groups maintained this trend with a significantly lower hypertension prevalence with 'total' vs. 'subsequent' BP. An exception to the trend occurred in the AP group for three conditions: diastolic hypertension, hypertension in high BMI and Hispanic subjects. Diastolic hypertension prevalence with 'subsequent' DBP (86/2 285, 3.8% [3.1-4.6%]) exceeded that with 'initial' DBP (83/2 285, 3.6% [2.9-4.5%]) and was lowest with 'total' DBP (59/2 285, 2.6% [2.0-3.3%]). Diastolic hypertension prevalence was higher (126/5 642, 2.2% [1.9 - 2.7%]) with the 2016 European guidelines (same as 'subsequent' DBP) than with 'total' DBP (94/5 642, 1.7% [1.4 - 2.0%]). Our findings support the inclusion of the first BP reading in BP categorization, as 'total BP' leads to lower hypertension classification than 'subsequent' BP.


Pda (Privacy-Preserving Distributed Algorithms) In Action: Ten Principles For High-Quality Multi-Site Clinical Evidence Generation, Yong Chen, Chongliang Luo, Et Al. Sep 2026

Pda (Privacy-Preserving Distributed Algorithms) In Action: Ten Principles For High-Quality Multi-Site Clinical Evidence Generation, Yong Chen, Chongliang Luo, Et Al.

2020-Current year OA Pubs

BACKGROUND: Distributed Research Networks (DRNs) offer significant opportunities for collaborative multi-site research and have significantly advanced healthcare research based on clinical observational data. However, generating high-quality real-world evidence using fit-for-use data from multi-site studies faces important challenges, including biases associated with various types of heterogeneity within and across sites and data sharing difficulties. Over the last 10 years, Privacy-Preserving Distributed Algorithms (PDA) have been developed and utilized in numerous national and international real-world studies spanning diverse domains, from comparative effectiveness research, target trial emulation, to healthcare delivery, policy evaluation, and system performance assessment. Despite these advances, there remains a lack …


Unlocking Cis-Regulatory Landscapes Across 500 Million Years Of Evolution And Disease Mechanisms, Tássia Mangetti Gonçalves, Casey L Stewart, Samantha D Baxley, Jason Xu, Kevin Boyer, Bijesh George, Daofeng Li, Chengran Yang, Harrison W Gabel, Xianhua Piao, Carlos Cruchaga, Yang E Li, Ting Wang, Oshri Avraham, Guoyan Zhao Sep 2026

Unlocking Cis-Regulatory Landscapes Across 500 Million Years Of Evolution And Disease Mechanisms, Tássia Mangetti Gonçalves, Casey L Stewart, Samantha D Baxley, Jason Xu, Kevin Boyer, Bijesh George, Daofeng Li, Chengran Yang, Harrison W Gabel, Xianhua Piao, Carlos Cruchaga, Yang E Li, Ting Wang, Oshri Avraham, Guoyan Zhao

2020-Current year OA Pubs

Genomic DNA encodes regulatory information that determines where, when, and to what extent genes are expressed. Theoretically, we should be able to identify these transcriptional "instructions" by examining genomic DNA sequence alone, yet this has remained challenging. Here we present the Vertebrate Regulatory MOdule Detector (VRMOD), a method that accurately predicts gene regulatory sequences using only the query genomic sequences. We applied VRMOD to 309 Ensembl genomes, generating a compendium of high-resolution, genome-position-fixed


Characteristics Of Individuals With Cerebral Palsy Across The Us, Bhooma R Aravamuthan, Et Al. Sep 2026

Characteristics Of Individuals With Cerebral Palsy Across The Us, Bhooma R Aravamuthan, Et Al.

2020-Current year OA Pubs

No abstract provided.


Abundance And Balance Of Circulating Leukocyte Subsets And Colorectal Cancer Survival, Alicia R Richards, Maria F Gomez, Bianca I Dowling, Catherine M Bulka, Biljana Gigic, Jane C Figueiredo, Christopher I Li, David Shibata, Adetunji T Toriola, Doratha A Byrd, Cornelia M Ulrich, Mingxiang Teng, Paul A Stewart, Erin M Siegel, Jacob K Kresovich Sep 2026

Abundance And Balance Of Circulating Leukocyte Subsets And Colorectal Cancer Survival, Alicia R Richards, Maria F Gomez, Bianca I Dowling, Catherine M Bulka, Biljana Gigic, Jane C Figueiredo, Christopher I Li, David Shibata, Adetunji T Toriola, Doratha A Byrd, Cornelia M Ulrich, Mingxiang Teng, Paul A Stewart, Erin M Siegel, Jacob K Kresovich

2020-Current year OA Pubs

BACKGROUND: Cancer immunology research has traditionally focused on tumor-infiltrating leukocytes, but the role of the peripheral leukocytes remains understudied. Since tumor-infiltrating leukocytes are recruited from the blood, circulating immune profiles may provide prognostic insights obtainable before surgery, reflecting overall immune competence.

METHODS: We analyzed treatment-naïve blood samples from 134 stage I-III colorectal cancer (CRC) patients using a nested case-control design (33 recurrences, 45 deaths; median follow-up: 7.4 years). Circulating leukocyte subsets were estimated using methylation cytometry applied to genome-wide methylation profiles. Cox regression models estimated associations between leukocyte metrics and disease-free and overall survival, adjusting for clinical factors.

RESULTS: Higher …


Genomic Analysis Of Oesophageal Carcinoma (Ec) Identifies Recurrent Mutations In Histone Methyltransferases As A Distinctive Subset, Jingyuan Wang, Moh'd Khushman, Et Al. Sep 2026

Genomic Analysis Of Oesophageal Carcinoma (Ec) Identifies Recurrent Mutations In Histone Methyltransferases As A Distinctive Subset, Jingyuan Wang, Moh'd Khushman, Et Al.

2020-Current year OA Pubs

Histone-lysine N-methyltransferase 2 (KMT2) family proteins methylate lysine 4 on the histone H3 tail at important regulatory regions in the genome and thereby impart crucial functions through modulating chromatin structures and DNA accessibility. We aimed to identify the molecular profile of KMT2-MT oesophageal cancer (EC) and associations with patient outcomes. In our study, KMT2 mutations were significantly associated with longer immunotherapy-related overall survival (OS) in the esophageal adenocarcinoma (EA) (21.42 vs 13.42 months, HR = 0.66, 95% CI: 0.50-0.88, P = 0.004), but not in the esophageal squamous cell carcinoma (ESCC). KMT2 mutations were significantly associated with microsatellite instability-high and …


Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman Sep 2026

Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman

Faculty, Staff and Students Publications

Background and objectives: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry.

Methods: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test.

Results: Of participants with follow-up imaging, cerebellar atrophy …


Towards Human-Centered Digital Health Interventions, Kristin M Kostick-Quenet, Eric A Storch Sep 2026

Towards Human-Centered Digital Health Interventions, Kristin M Kostick-Quenet, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

This article discusses the potential of digital health interventions (DHIs) in mental health care, emphasizing the importance of designing them to foster genuine humanistic care. It highlights current challenges in measuring engagement and outcomes, advocating for integrating human-centered endpoints such as dignity, autonomy, and therapeutic alliance into evaluation frameworks. The authors call for mechanistic research to identify effective engagement strategies and context-specific implementation approaches. Ultimately, successful DHIs should demonstrate both clinical efficacy and the preservation of humane, person-centered care, ensuring ethical and meaningful mental health support through technology.


Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Frieda Zimmer, Daniel E Kennedy, Spencer L Redding, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King Sep 2026

Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Frieda Zimmer, Daniel E Kennedy, Spencer L Redding, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis (CH), an age-related expansion of somatically mutated hematopoietic clones, is associated with increased risk of severe infections including coronavirus disease (COVID)-19, yet the underlying mechanisms remain unclear. Here, we investigated the impact of Dnmt3a deficiency in a murine model of influenza A virus (IAV) pneumonia. Dnmt3a-deficient mice exhibited increased pulmonary viral burden and reduced neutrophil accumulation in IAV-infected lungs despite comparable circulating neutrophil numbers. Functional analyses of neutrophils showed impaired chemotactic migration in vitro, whereas maturation, antimicrobial enzyme content, and metabolic capacity were unchanged. Transcriptomic profiling revealed downregulation of pathways involved in chemotaxis, cytokine signaling, and cellular activation, …


Rhino: An Integrative Multi-Omics Framework Linking Circadian Physiology To Precision Medicine, Ying Chen, Chengxuan Chen, Dishu Zhou, Panpan Liu, Roberto E López-Valiente, Yuan Liu, Cam Mong La, Isabella Beraldo Xavier, Sean M Hartig, Pradip Saha, Zheng Sun, Leng Han, Dongyin Guan Sep 2026

Rhino: An Integrative Multi-Omics Framework Linking Circadian Physiology To Precision Medicine, Ying Chen, Chengxuan Chen, Dishu Zhou, Panpan Liu, Roberto E López-Valiente, Yuan Liu, Cam Mong La, Isabella Beraldo Xavier, Sean M Hartig, Pradip Saha, Zheng Sun, Leng Han, Dongyin Guan

Faculty, Staff and Students Publications

Circadian rhythms are involved in nearly all physiological processes, and their disruption increases disease risk. Aligning drug administration timing with the body's internal clock, known as circadian medicine, holds promise for improving treatment efficacy and safety. However, systematic strategies to identify circadian‐regulated therapeutic targets remain limited. Here, we develop RHINO (RHythmic Interacting Network for multi‐Omics), an integrative multi‐omics framework for exploring circadian regulation across diverse genetic and disease contexts, and prioritizing druggable circadian targets. Applying RHINO reveals that human genetic variation broadly shapes rhythmic gene expression, with approximately 80% of FDA‐approved drug targets exhibiting genotype‐dependent rhythmicity, thereby substantially expanding the …


New York City Women’S Experiences With Perinatal Depression Inquiries, Diagnosis, And Treatment Initiation, Caterina Pisciotta Sep 2026

New York City Women’S Experiences With Perinatal Depression Inquiries, Diagnosis, And Treatment Initiation, Caterina Pisciotta

Dissertations, Theses, and Capstone Projects

Perinatal depression represents a significant public health concern, yet many women who experience depression symptoms during the perinatal period (either during pregnancy and/or after birth) do not receive treatment. Initiatives, such as ThriveNYC, were designed to address these gaps by screening and treating perinatal women for maternal depression, integrating screening into routine perinatal care and strengthening pathways to treatment. Using representative survey data collected between 2016 and 2021 via the Center for Disease Control and Prevention’s Pregnancy Risk Assessment Monitoring System (PRAMS), this study examined trends in perinatal depression inquiries (a proxy for “screening”) and postpartum diagnosis, as well as …


Parenthood And Re-Appraisal Of Childhood Maltreatment, Gayathri Cheran Sep 2026

Parenthood And Re-Appraisal Of Childhood Maltreatment, Gayathri Cheran

Dissertations, Theses, and Capstone Projects

Background: Child maltreatment is associated with poorer physical and mental health outcomes across the lifespan.  Individuals’ appraisals of childhood maltreatment have important implications for these outcomes.  Appraisal is shaped by biological, psychological, and social-cultural factors, each of which undergoes change in parenthood.  Parenthood may prompt re-appraisal of childhood maltreatment in that being a parent evokes one’s experience of being parented.

Hypotheses: (1) Re-appraisal will be more likely in parents than non-parents.  In parents, re-appraisal will be more likely among: (2) primiparous parents, (3) parents with offspring of the same sex, and (4) parents who experienced maltreatment older in childhood (at …


The Development And Piloting Of A Novel Client-Rated Trans And Gender Expansive Clinical Competence Scale For Mental Health Providers, Karen Abraham Sep 2026

The Development And Piloting Of A Novel Client-Rated Trans And Gender Expansive Clinical Competence Scale For Mental Health Providers, Karen Abraham

Dissertations, Theses, and Capstone Projects

Transgender and gender expansive individuals (TGEI) are people who encompass a broad and comprehensive set of experiences of gender diverse individuals and identities that exist both within and beyond a binary framework. In the United States, the Williams Institute identified a proportion of 0.5% of American adults identifying as transgender (Herman et al., 2022). TGE samples report poorer physical and mental health than their cisgender counterparts across the lifespan (Rastogi et al., 2025; Reisner et al., 2015; Reisner, Poteat, et al., 2016). Health disparities of TGEI relative to their non-TGE counterparts can be seen in the prevalence of mood disorders …


Noncoding Rna Transcripts Based Molecular Phenotyping Of Masld And Mash Patients, Frida M. Delgadillo, Karla Perez, Barbara Yang, Subramanian Dhandayuthapani, Murali Yallapu, Subhash C. Chauhan, Enrique I. Ramos, Shrikanth S. Gadad Sep 2026

Noncoding Rna Transcripts Based Molecular Phenotyping Of Masld And Mash Patients, Frida M. Delgadillo, Karla Perez, Barbara Yang, Subramanian Dhandayuthapani, Murali Yallapu, Subhash C. Chauhan, Enrique I. Ramos, Shrikanth S. Gadad

School of Medicine Publications

Background and aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a progressive hepatic metabolic disorder characterized by excessive fat accumulation in hepatocytes. MASLD can advance to metabolic dysfunction-associated steatohepatitis (MASH). These conditions often lead to hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC) if not timely diagnosed and managed; thus, molecular phenotyping of MASLD and MASH conditions is highly desirable. The analyses were performed to identify distinct, differentially expressed genes, particularly noncoding ones, in MASLD and MASH patient samples, thereby expanding diagnostic and therapeutic options.

Methods: We extracted the data from a recent transcriptomic study by Govaere et al. on MASLD …


Exploring The Backgrounds, Experiences, Motivations, And Development Of School-Based Wheelchair Sport Coaches, Deborah Shapiro, Scott Douglas, Jp Barfield, Laurie A. Malone Aug 2026

Exploring The Backgrounds, Experiences, Motivations, And Development Of School-Based Wheelchair Sport Coaches, Deborah Shapiro, Scott Douglas, Jp Barfield, Laurie A. Malone

Journal of Coach Development

Coaching in adapted sport is a complex and demanding practice that requires both specialized technical expertise and a deep understanding of disability. This study explored the motivations, backgrounds, and developmental pathways of interscholastic school-based wheelchair sport coaches. We examined how coaches are introduced to wheelchair sport coaching, their initial and ongoing development, and their perspectives on effective coaching and training practices. A total of 17 coaches (10 men, 7 women) with 1 to 17 years of experience in wheelchair sports coaching from 7 interscholastic wheelchair sports teams participated in one 60-minute mini focus group discussion and responded to a set …


Vermillion, Saptarshi Biswas Aug 2026

Vermillion, Saptarshi Biswas

HCA Healthcare Journal of Medicine

The sky is vermilion, and the sand below mirrors its hue—a seamless union of heaven and earth in the waning light. The setting sun spills its final radiance across the world, as if reluctant to surrender to night. In this mirrored brilliance lies a quiet truth about human life: that our final moments often reflect the sum of all that came before, casting meaning backward, tinting memory with the soft, forgiving glow of closure.

Just as the sand borrows its color from the sky, so too do our lives borrow significance from what we love, what we lose, and what …