Medical Specialties Commons^™

Perspectives On High-Value Care Education Among Us Medical Students, Hannah K. Bassett, Michelle Chen, Shivani Jain, Anitra Karthic, Karthik Ramesh, Hannah Shenton, September Wallingford, Allison Heacock

School of Medicine Faculty Publications

No abstract provided.

Management Of Stone Disease In The Spina Bifida Patient, Meghan F. Davis, Kyle L. Yu, Arun K. Srinivasan

Department of Medicine Faculty Papers

PURPOSE OF THE REVIEW: This review provides a detailed overview of the specifics of presentation, diagnosis, and management of upper and lower urinary tract stone disease for individuals with spina bifida.

RECENT FINDINGS: Recent studies highlight the significant burden of stone disease for spina bifida patients. Individuals with spina bifida require lifelong urologic care. They are more likely to have stone disease and have complications from management. This is a particularly salient issue for patients who have undergone bladder augmentation. Given the frequency and severity of these issues, it is critical that urologists be familiar with the nuances of stone …

Assessing The Efficacy Of The Cam-Icu Scale In Reducing Length Of Stay In The Icu: A Scoping Review, James Ray Davis Mph, Bsn, Rn, Donna Lynch-Smith Dnp, Aprn, Acnp-Bc, Ne-Bc, Cnl

Doctor of Nursing Practice Projects

No abstract provided.

Managing Pcos In Adolescents, Michael Smith, Tania S. Burgert

Pediatrics in Practice: A CME Podcast

In this episode, Dr. Tania Burgert, a leading pediatric endocrinologist and director of the Multi-Specialty Adolescent PCOS Program at Children’s Mercy, breaks down the complexities of diagnosing and managing polycystic ovary syndrome (PCOS) in teens. She discusses the evolving diagnostic criteria, the challenges pediatricians face in early identification, and how to approach patients who may be “at risk.” Dr. Burgert also explores first-line treatment strategies, the critical role of mental health support, and how lifestyle interventions can be made sustainable for adolescents.

Click here to stream the podcast episode.

Validation Of A Prognostic Nomogram For Locally Advanced Oropharyngeal Carcinoma Treated With Intensity-Modulated Radiotherapy With/Without Systemic Therapy, P. Bossi, R. Gili, S. Calza, L. Licitra, M. Maddalo, A. Bacigalupo, L. Belgioia, J. Cacicedo, N. Facchinetti, A. Garcia Castano, M. Oliva, P. Bonomo, G. Sanguineti, P. Franco, A. Argiris, A. Psyrri, E. Orlandi

Kimmel Cancer Center Faculty Papers

BACKGROUND: Head and neck squamous-cell carcinoma (HNSCC), particularly oropharyngeal cancer (OPC), exhibits diverse prognostic factors influenced by demographic and lifestyle variables. Prognostic nomograms, such as the one developed by Fakhry et al., incorporate clinical and biological markers to predict overall survival (OS) and progression-free survival (PFS) in OPC patients. However, their applicability to European populations remains unverified. This study aimed to externally validate Fakhry's prognostic nomogram in a large European cohort of locally advanced OPC patients treated with definitive intensity-modulated radiotherapy (IMRT) with or without systemic therapy.

METHODS: This is a retrospective external validation study conducted on 805 OPC patients …

Single Local Injection Of 3s-Hmgb1 Enhances Early Bone Healing And Titanium Implant Osseointegration In Type 2 Diabetic Mice, Bhuvana L. Chandrashekar, Alexandra Arteaga, Evelin Rios, Jimena Mora, Gustavo P. Garlet, Danieli Rodrigues, Cláudia Cristina Biguetti

School of Podiatric Medicine Publications

Diabetes significantly impairs bone healing via several mechanisms, including sustained inflammation, oxidative stress, and poor osteogenic responses. Fully reduced isoform of High Mobility Group Box 1 with three serine substitutions (3S-HMGB1) has shown regenerative properties while being resistant to oxidative degradation.

Objective: This study evaluated the therapeutic potential of a single local injection of 3S-HMGB1 in early osseointegration under diabetic conditions in mice.

Methodology: A total of 48 male 129/Sv mice (24 non-diabetic [ND], 24 diabetic [D]) received titanium implants following maxillary first molar extraction. ND and D mice (n:12) were injected with either saline (control) or 3S-HMGB1 (0.75 mg/kg) …

Cd5 Expression In Ctcl And Its Implications For Anti-Cd5 Car T-Cell Therapy, Leena Wardeh, Madeline Williams, Courtney Prestwood, Zachary Wolner, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Cutaneous T-Cell Lymphomas (CTCL) are a heterogenous group of T-cell malignancies in the skin and have poor treatment outcomes in advanced stages. CD5, a surface glycoprotein expressed on most mature T cells, has emerged as a promising target for chimeric antigen receptor (CAR) T-cell therapy in systemic T-cell lymphomas. However, its expression profile in CTCL and relevance for targeted therapy remain unclear. Notably, in CTCL, the cell surface expression of receptors, such as CD7 and CD26, tends to become downregulated on the surfaces of malignant T cells In this study, we analyzed single-cell RNA sequencing (scRNA-seq) data from patients at …

A Novel Approach To Calculating Expected Total Fetal Lung Volume In Fetuses With Isolated Congenital Diaphragmatic Hernia And Fetal Growth Restriction: A Theoretical Computational Simulation, Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes

Faculty, Staff and Students Publications

Objectives: Congenital diaphragmatic hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.

Methods: A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to …

Signs, Symptoms, And Health-Related Quality Of Life In Melas: Measuring What’S Important From The Patient And Clinician Perspectives, Paolo Medrano, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan Shields, Amy Goldstein, Amel Karaa, Austin Larson, Sumit Parikh, Fernando Scaglia, Karra Danyelle Harrington, Chris James Edgar, Pamela Ventola, Matthew Webster, Jennifer Chickering, Chad Gwaltney, Phebe Wilson, Chad Glasser

Faculty, Staff and Students Publications

Background and objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare genetic syndrome mostly associated with pathogenic variants in mitochondrial DNA. As there is limited research on the life experience of patients with MELAS, this study aimed to develop an understanding of the patient experience of MELAS through qualitative interviews to identify, describe, and substantiate important and relevant signs, symptoms, and health-related quality-of-life (HRQoL) impact (S/S/I) concepts.

Methods: Clinician and patient interviews were conducted virtually using semi-structured interview guides. During 60-minute interviews with five experts in the United States, clinicians were asked for their perspective on …

Resilience Factors And Physical Activity Engagement In Adolescents With Chronic Musculoskeletal Pain: A Cross-Sectional Study., William R. Black, Haley Hart, Jennifer Christofferson, Mark Connelly, Liesbet Goubert, Dustin Wallace, Laura Ellingson-Sayen, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

Background/Objectives: Chronic musculoskeletal pain (CMSKP) affects up to 40% of adolescents and leads to substantial disability, reduced quality of life, and long-term health risks. Physical activity is central to treatment, but adherence to moderate-to-vigorous physical activity (MVPA) is inconsistent. We evaluated higher-resilience constructs-self-efficacy, pain acceptance, motivational stage, and affect-and hypothesized that higher resilience would be associated with greater objectively measured physical activity, better daily functioning, and higher quality of life in adolescents with CMSKP. Methods: Forty-three adolescents (13-18 years) with CMSKP completed measures of physical activity-specific self-efficacy, acceptance (AFQ-Y), motivational stage (PSOCQ-A), and affect (PANAS-C). Participants wore activPAL …

Pharmacological Profiling In Cll Patients During Pirtobrutinib Therapy And Disease Progression, Shady I Tantawy, Burcu Aslan, Ganiraju Manyam, Lakesla R Iles, Natalia Timofeeva, Neetu Singh, Nitin Jain, Alessandra Ferrajoli, Philip A Thompson, Keyur P Patel, Sai Prasad Desikan, William G Wierda, Varsha Gandhi

Faculty, Staff and Student Publications

No abstract provided.

Pediatric Vs Adult Invasive Aspergillosis In Cancer And Hematopoietic Transplant Patients: Insights From A Matched Cohort At A Tertiary Cancer Center, Saliba Wehbe, Ramia Zakhour, Ray Hachem, Ying Jiang, Hiba Dagher, Roseen Salman, Anne-Marie Chaftari, Issam I Raad

Faculty, Staff and Student Publications

Background: Invasive aspergillosis (IA) is a life-threatening infection in immunocompromised patients, including those with hematologic malignancies and hematopoietic stem cell transplants. While adult IA has been well characterized, data on pediatric populations remain limited, and potential age-related differences are often overlooked in current management guidelines.

Methods: We conducted a retrospective matched cohort study at a tertiary cancer center, evaluating IA cases diagnosed over a 31-year period. Pediatric patients (≤18 years) with proven or probable IA were matched 1:3 with adult IA cases based on year of diagnosis, underlying disease, and history of hematopoietic cell transplantation. We compared demographics, clinical presentation, …

Bifurcated In-Stent In Situ Technique For Creation Of A Bifurcated Bridging Stent-Graft System To 2 Target Vessels Using A Single Directional Branch: A Report Of 2 Cases, Gustavo Paludetto, Lethicia Mesquita, Bruno Pagnin Schmid, Lucas Ruiter Kanamori, Dora Babocs, Thanila A Macedo, Gustavo S Oderich

Faculty, Staff and Students Publications

Objective: The objective of the study is to describe a novel bifurcated in-stent in situ technique (BIS2T) for creation of a bifurcated bridging stent-graft system to target 2 vessels using a single directional branch during complex endovascular aortic aneurysm.

Technique: The technique uses 3 balloon-expandable stent-grafts. The first supporting stent-graft is deployed from the directional branch into the first target vessel or aneurysm sac. A reentry catheter is used to create an in situ fenestration in the first stent-graft, which is predilatated with a 3 mm 0.014 inch angioplasty balloon. This is exchanged for a 0.035 inch 5 Fr catheter …

Perceived Gaps In Preparation For Pathology Residency And Opportunities For Improvement, Barbara Knollmann-Ritschel, Julie Karp, Stephanie Barak, John Childs, Kristen Johnson, Amanda Lofgreen, Mary Berg, Satyapal Chahar, Hailey Gosnell, Cindy Mccloskey, Balaram Puligandla, Kristie White, Bronwyn Bryant

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The transition from medical school to residency is both a transformative and a challenging process. International literature suggests that there are known or perceived gaps in preparation for residency training in many areas of medicine. However, in the current published literature, there is no discussion of perceived gaps existing in pathology residency preparation. This study surveyed both pathology residency program directors and first-year pathology residents about the knowledge of pathology and basic medical skills residents received in medical school, perceptions about readiness for pathology residency, and perceived gaps in preparation for pathology residency that could be addressed. This survey found …

Social Vulnerability Associations With Hypopharyngeal Carcinoma Treatment And Prognostic Disparities, Camaren M. Cuenca, David M. Bruss, David J. Fei-Zhang, Jill N. D'Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius

School of Medicine Faculty Publications

Objectives: Prior studies investigating the impacts of social determinants of health (SDoH) on hypopharyngeal cancer have only assessed the impact of individual factors on patient outcomes. This study uses the CDC's Social Vulnerability Index (SVI) and a national patient cohort to examine how the interrelational influence of SDoH affect hypopharyngeal cancer prognosis, treatment, and follow-up. Methods: This retrospective cohort study analyzed patients from 1975 to 2017 with a diagnosis of hypopharyngeal carcinoma in the NCI-SEER database. Net social vulnerability and its contributions from 15 SDoH variables were ranked and scored across all US counties, yielding a SVI. SVI scores were …

Predicting Intravitreal Treatment Response Using Ultrawide-Field Angiographic Biomarkers In Diabetic Retinopathy, Karthik Reddy, Callie Deng, Boonkit Purt, Yue Liang, Nikhil Bommakanti, Gina Yu, Julie Rosenthal, Yannis M. Paulus

Wills Eye Hospital Papers

BACKGROUND: Diabetic retinopathy (DR) is a sight-threatening retinal disease with pathological mediation by vascular endothelial growth factor (VEGF). Intravitreal anti-VEGF injections are commonly used to manage DR. Ultra-wide-field fluorescein angiography (UWF-FA) can assess DR severity and characterize the amount of non-perfused retina (non-perfusion area, NP), neovascularization (neovascular area, NV), and foveal avascular zone (FAZ). However, the association between anti-VEGF treatment and NP, NV, and FAZ characterized by UWF-FA is not well established.

METHODS: A retrospective, single-center cohort study involved eyes of patients with Type 1 or 2 diabetes mellitus with at least one UWF-FA image. The area of the FAZ, …

Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Megan V Alexander, Hailie Ciomperlik, Anna Claire Reynolds, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie

Faculty, Staff and Students Publications

Cryopreservation of sperm offers male cancer patients a critical opportunity to preserve fertility prior to gonadotoxic treatments. Despite its increasing availability, utilization rates remain modest at typically less than ten percent. This expert review provides a framework for an optimal Oncofertility Patient Care Pathway, explores the multifaceted barriers to cryopreserved sperm use, and proposes specific solutions. We focus on key timepoints for intervention, including the post-treatment fertility care return visit, continued sperm cryopreservation while remote from family building, eventual readiness for family building, and posthumous considerations. Patients often face difficulty engaging in post-treatment reproductive follow-up, with one-third of patients missing …

Using The Electronic Health Record To Facilitate Drug Allergy Delabeling., Matthew J Molloy, Adam P Yan, Averi E Wilson, Jonathan Beus, Lauren M Hess

Faculty, Staff and Students Publications

Purpose of review: There is a growing number of allergy delabeling programs across diverse clinical specialties and care settings. The electronic health record (EHR) can be leveraged to facilitate allergy delabeling. The purpose of this review is to describe EHR tools that have been used in allergy delabeling programs. We also provide recommendations for organizations considering EHR-based allergy delabeling workflows that incorporate clinical informatics best practices.

Recent findings: Recent literature describes several EHR tools used in delabeling. These tools can be organized around the steps of the allergy delabeling workflow: 1. Identify eligible patients, 2. Risk stratify, 3. Evaluation and …

Human Papillomavirus Vaccine Uptake In Ethnically Diverse Women Living With Systemic Lupus Erythematosus, Sebastian Bruera, Yinan Huang, Savannah Bowman, Maria E Suarez-Almazor, Grace H Lo, Maria A Lopez-Olivo, Elizabeth Chiao, Jennifer R Kramer, Frederick A Pereira, Sandeep K Agarwal

Faculty, Staff and Students Publications

Background: Women with systemic lupus erythematosus (SLE) are at an increased risk of infection from the human papillomavirus (HPV) and subsequently HPV-mediated malignancies and genital warts. The HPV vaccine is a highly effective intervention in preventing HPV infection and is recommended in SLE patients. We determined HPV vaccination rates and factors associated with decreased vaccination uptake in women living with SLE.

Methods: We conducted a cross-sectional study in which we enrolled women with SLE (aged 21–45) for whom the HPV vaccine is recommended for by the US Food and Drug Administration (FDA). The primary outcome was self-reported HPV vaccination as …

A Structured, Competency-Based Framework For Aspiring Cardiothoracic Surgeons, Adham Ahmed, Samantha Colon, Gianna J. Dafflisio, Purab Kothari, Nina Uzoigwe, Alice Zhou, Juli Buchwald, Betemariam Sharew, Carter Glenn, Steven Medvedovsky, Justin Olivera, Ryan Kramer, Gabrielle Colon, Jonathan M. Tomasko, Sara J. Pereira, Mara Antonoff, Marc Pelletier, Irbaz Hameed

Student Papers, Posters & Projects

OBJECTIVE: Cardiothoracic surgery requires mastery of a broad knowledge base and advanced skillset to manage critically ill patients. Although competency-based assessment frameworks have been developed in several specialties, there remains a paucity of resources to guide practical progression for early cardiothoracic surgical trainees.

METHODS: Members of the Thoracic Surgery Residents Association, Thoracic Surgery Medical Student Association, and attending cardiothoracic surgeons with a strong track record of surgical education were invited to share their insights and experiences. A structured, milestone-driven roadmap was developed on the basis of their contributions.

RESULTS: We developed a structured, competency-based framework for early surgical trainees, with …

Thrombi From Stroke Due To Cardioembolic Etiology Have Higher Cd11b-Positive Cells Compared To Large Artery Atherosclerosis, Carson Finger, Gomana Emara, Gabriel S Chiu, Kelly Li, Sunil Sheth, Chunfeng Tan, Maria Parekh, Mehmet Enes Inam, Deepa Dongarwar, Bharti Manwani

Faculty, Staff and Student Publications

Identifying the underlying etiology of ischemic stroke is crucial for implementing effective stroke prevention measures. In the era of thrombectomy, ischemic stroke thrombus composition has gained considerable interest in the recent years. However, only a limited studies have analyzed the inflammatory milieu of the thrombus in association with stroke etiology. Atrial Fibrillation (AF), a common etiology of large strokes, is difficult to detect, but is known to be an inflammatory disease with a dominance of CD11b cell types (characterizes bone marrow derived myeloid cells such as monocytes, neutrophils, macrophages, and natural killer cells) in the atria. We hypothesized that thrombi …

Branch Retinal Artery Occlusion After Covid-19, Danielle Kalberer Od, Mba, Grace Tan Od

Optometric Clinical Practice

Background: A healthy, 39-year-old male patient presented with sudden onset, painless vision loss of the right eye’s superior visual field two months after a mild case of COVID-19.

Case Report: The patient was diagnosed with an acute branch retinal artery occlusion and referred to the emergency department for prompt evaluation. When the emergency workup was unremarkable the patient was referred to cardiology and hematology and follow up with a retinal specialist. The exhaustive systemic work-up was unremarkable other than recent COVID-19. Retinal perfusion to the affected area resumed in the weeks after the incident but irreversible vision loss occurred.

Conclusion: …

Creation And Evaluation Of Standardized Electronic Health Record Templates For Transition Of Care In Sickle Cell Disease: A Pilot Study, Stephanie Howe Guarino, Mohan Madisetti, Payal C. Desai, Akshat Jain, Kenneth Rivlin, Jerome A. Osheroff, Robin Miller, Brandi Campanella, Sophie Lanzkron, Julie Kanter

Cardeza Foundation for Hematologic Research

Objective The objective of this pilot project was to create a standardized Transition Note in the electronic health record (EHR) to facilitate clinician communication during the transition process from pediatric to adult care for youth with sickle cell disease (SCD). Methods Using a modified Delphi process, consensus was reached among 78 member centers from the National Alliance of Sickle Cell Centers (NASCC) on the essential health data elements for a standardized EHR Transition Note. Templates were created in 2 different EHR systems and piloted at 2 SCD centers. Perceived clinician acceptability, appropriateness, and feasibility were assessed using the AIM-IAM-FAM measures …

Modeling Surgeon Belief Updating Under Bias: A Bayesian Simulation In Shoulder Arthroplasty, Mariano Menendez, Michael Moverman, Surena Namdari, Frederick Matsen, David Ring

Rothman Institute Papers

BACKGROUND: Shoulder surgeons often offer markedly different treatment recommendations for a given patient and pathophysiology within the context of a common body of evidence. Prior beliefs and cognitive bias may contribute to this variability. Using Bayesian decision theory informed by principles of behavioral science, we modeled how surgeons with different initial beliefs and degrees of bias update their treatment preferences in response to new evidence comparing anatomic total shoulder arthroplasty (aTSA) and reverse total shoulder arthroplasty (rTSA) when making surgery recommendations for advanced primary glenohumeral osteoarthritis.

METHODS: We developed a Bayesian simulation involving 3 hypothetical surgeons with distinct initial beliefs: …

The Mycancergene Study: A Hybrid Type 1 Effectiveness-Implementation Randomized Study Comparing A Patient-Centered Digital Genetic Health Portal To Usual Care After Receipt Of Cancer Genetic Testing, Daniel Chavez-Yenter, Dominique Fetzer, Brian Egleston, Susan Domchek, Linda Fleisher, Lynne Wagner, Kuang-Yi Wen, Kelsey Karpink, Lauren Gutstein, Shelby Posen, Enida Selmani, Briana Mcleod, Arravinth Anantharajah, Sarah Brown, Cara Cacioppo, Jacqueline Cappadocia, Jessica Ebrahimzadeh, Dana Falcone, Sarah Howe, Claire Langer, Beth Mccarthy-Wood, Michelle Weinberg, Angela Bradbury

Department of Medical Oncology Faculty Papers

BACKGROUND: Genetic testing has become more complex with the transition from single gene testing to multi-gene panels and whole-exome sequencing. The adoption of more complex genetic testing and the promise of precision medicine has created a critical and urgent need for longitudinal clinical follow-up with patients who undergo cancer genetic testing given the residual uncertainty. There is an increasing need for multidisciplinary translational research that focuses on how to advance precision medicine discoveries into clinical practice and to capitalize on connectivity (e.g. digital health) interventions in ways that optimize cancer risk reducing behaviors in real-world clinical populations.

METHODS: The overall …

Compromised Pressure-Generating Capacity Of Diaphragmatic Muscle And Its Interaction With The Lower Rib Cage At High Lung Volume During Airway Occlusion, Aladin M Boriek, Noralis Rodriguez-Santiago, Sanghyun Kim, Aubri Ford, Shari Wynd, Rolf D Hubmayr

Faculty, Staff and Students Publications

The pressure generating capacity of the diaphragm is generally thought to be compromised at high lung volume either due to loss of curvature or loss of its membrane tension. At a state of hyperinflation during airway occlusion at total lung capacity, the diaphragmatic muscle is forced to contract from an initial shorter length, the zone of apposition narrows, insertional force on the chest wall is reduced and abdominal compliance falls. We hypothesize that these altered mechanical conditions at high lung volume lead to a loss of the pressure generating capacity that is mediated by excessive muscle shortening rather than loss …

Lorbin: Efficient Binning Of Long-Read Metagenomes By Multiscale Adaptive Clustering And Evaluation, Wei Xue, Zuo Liu, Yaozhong Zhang, Waseem Raza, Yarong Li, Li Jiang, Ye Tao, Jun Qian, Jousset Alexandre, Fang-Jie Zhao, Yangchun Xu, Fritz Sedlazeck, Qirong Shen, Gaofei Jiang, Zhong Wei

Faculty, Staff and Students Publications

Long-read sequencing has transformed metagenomics and improved the quality of metagenome-assembled genomes (MAGs). However, current binning methods struggle with identifying unknown species and managing imbalanced species distributions. Here, we present LorBin, an unsupervised binner specially designed to reconstruct MAGs in natural microbiomes. LorBin deploys a two-stage multiscale adaptive DBSCAN and BIRCH clustering with evaluation decision models using single-copy genes to maximize MAG recovery. LorBin outperforms six competing binners in both simulated and real microbiomes, including oral, gut, and marine samples. LorBin generated 15-189% more high-quality MAGs with high serendipity and identified 2.4-17 times more novel taxa than state-of-the-art binning methods. …

Racial Disparities In Clonal Hematopoiesis And Their Impact On Hematologic Malignancies, Zijian Zhang, Chao Cheng

Faculty, Staff and Students Publications

Clonal hematopoiesis of indeterminate potential (CHIP) is a known risk factor for hematologic malignancies (HM), but its distribution and clinical implications across diverse ancestries remain poorly characterized. In this study, we investigated CHIP and its progression to HM in a large, racially diverse cohort from the All of Us Research Program, comprising 245,388 participants. We identified 10,446 CHIP driver mutations in 9,476 individuals. Our analysis revealed clear racial disparities in CHIP prevalence and mutational profiles: African American (AA) individuals had higher odds of CHIP and exhibited distinct mutation patterns compared to White American (WA) individuals. Consistent with prior studies, CHIP …

Whole-Genome Sequencing Reveals Individual And Cohort Level Insights Into Chromosome 9p Syndromes, Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy, Ying-Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth Appelbaum, Titilope Akinwe, Rodrigo T Starosta, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K Ng, Andrew Emory, Laura Metz, Tracie Deluca, Katherine N Lyons, Toni Sinnwell, Brianne Thomeczek, Kymme Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine A King, Christina A Gurnett, Susan K Dutcher, Catherine Gooch, Yang E Li, Matthew W Mitchell, Kevin A Peterson, Amjad Horani, Jill A Rosenfeld, Weimin Bi, Pawel Stankiewicz, Hsiao-Tuan Chao, Jennifer E Posey, Christopher M Grochowski, Zain Dardas, Erik G Puffenberger, Christopher E Pearson, Frank Kooy, Dale Annear, A Micheil Innes, Michael Heinz, Richard Head, Robert Fulton, Stephan Toutain, 9p-Arch, Lucinda Antonacci-Fulton, Xiaoxia Cui, Robi D Mitra, F Sessions Cole, Julie Neidich, Patricia I Dickson, Jeffrey Milbrandt, Tychele N Turner

Faculty, Staff and Students Publications

Background: Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided important initial insights into these syndromes. This current study is the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with chromosome 9p syndromes.

Methods: Through the newly formed 9P-ARCH (Advanced Research in Chromosomal Health: Genomic, Phenotypic, and Functional Aspects of 9p-Related syndromes) research network, we assembled a cohort of individuals from families with chromosome 9p syndromes. WGS was applied to 100 individuals, and other genomic technologies were applied to a subset of individuals. To …

Perfusion Assessment In Ceus Imaging For Estimating Pancreatic Cancer Response To Sonoporation-Enhanced Chemotherapy., Omri Adler, Priscilla Machado, Trang Vu, Flemming Forsberg, Odd Helge Gilja, Dan Adam

Department of Radiology Faculty Papers

Accurate assessment of perfusion in vital organs like the pancreas is crucial for monitoring various pathologies, particularly tumors and their growth. While tumor growth inhibition usually results in decreased vascularization, current techniques for non-invasive and cost-effective perfusion assessment lack sufficient vessel separability for pancreatic applications, hindering optimal treatment selection and monitoring. Ultrasound (US) imaging offers advantages like low cost, rapid acquisition, non-invasiveness, and non-ionizing radiation. However, speckle, patient-related and acquisition-related motion artifacts, and limitations in distinguishing contrast-enhanced blood vessels, particularly in single frames, pose significant challenges. This study presents a novel solution utilizing image analysis of US contrast agents (UCAs) …