Digital Commons Network^™

Integrated Metabolomics And Spatial Transcriptomics Of Cystic Pancreatic Cancer Precursors Reveals Dysregulated Polyamine Metabolism As A Biomarker Of Progression, Ricardo A León-Letelier, Yihui Chen, Rongzhang Dou, Ehsan Irajizad, Michele T Yip-Schneider, Ranran Wu, Rahmah Ejaz, Hamid K Rudsari, Yaxi Li, Rachelle Spencer, Riccardo Ballarò, Jody Vykoukal, Mark Hurd, Jennifer B Dennison, Kim-Anh Do, Anirban Maitra, Jianjun Zhang, Samir Hanash, C Max Schmidt, Johannes F Fahrmann

Faculty, Staff and Student Publications

Purpose: We conducted metabolomics and spatial cell transcriptomics of intraductal papillary mucinous neoplasms (IPMN), recognized pancreatic cancer precursors, to identify oncometabolites that inform upon risk of malignancy of IPMNs.

Experimental design: Untargeted metabolomic analyses were performed on cystic fluid from 125 patients with low-grade (LG) dysplasia or high-grade (HG) dysplasia with/without concurrent pancreatic ductal adenocarcinoma (PDAC; IPMN/PDAC). Predictive performance of individual metabolites for identifying HG or PDAC/IPMN was determined and compared with CA19-9 performance. Data were intersected with metabolic profiles of resected IPMN tissues and murine Kras;Gnas IPMN cell lines as well as spatial and single-cell transcriptomics of IPMNs.

Results: …

Azacitidine, Venetoclax, And Magrolimab In Newly Diagnosed And Relapsed Refractory Acute Myeloid Leukemia: Phase Ib/Ii Study And Correlative Analysis, Naval Daver, Jayastu Senapati, Hagop M Kantarjian, Bofei Wang, Patrick K Reville, Sanam Loghavi, Musa Yilmaz, Courtney D Dinardo, Tapan M Kadia, Mhd Yousuf Yassouf, Abhishek Maiti, Sankalp Arora, Guillermo Montalban Bravo, Guilin Tang, Gautam Borthakur, Koji Sasaki, Naveen Pemmaraju, Joie Alvarez, Graciela M Nogueras Gonzalez, Jing Ning, Ghayas C Issa, Marina Konopleva, Michael Andreeff, Farhad Ravandi, Guillermo Garcia-Manero, Hussein A Abbas

Faculty, Staff and Student Publications

Purpose: Magrolimab is a monoclonal antibody directed against the macrophage checkpoint CD47 on myeloid leukemia cells that was preclinically synergistic with azacitidine-venetoclax, warranting further clinical evaluation.

Patients and methods: In this phase Ib/II study, the triplet combination of azacitidine, venetoclax, and magrolimab was evaluated in adult patients with first-line (ineligible for intensive chemotherapy) and relapsed/refractory acute myeloid leukemia. Azacitidine was dosed at 75 mg/m2 for 7 days, venetoclax at 400 mg/day for 28 days, and magrolimab (recommended phase II dose) as follows: 1 mg/kg dose on days 1 and 4, 15 mg/kg on day 8, and 30 mg/kg on days …

Time Dependency For Human Papillomavirus Circulating Tumor Dna Detection After Chemoradiation As A Prognostic Biomarker For Localized Anal Cancer, Van K Morris, Weihong Xiao, Kangyu Lin, Chi Wut Wong, Michael T Wotman, Emma B Holliday, Ryan W Huey, Sonal S Noticewala, Ethan B Ludmir, Alisha H Bent, Kaysia Ludford, Craig Messick, Eugene J Koay, Grace Smith, Tsuyoshi Konishi, Brian Bednarski, George J Chang, Albert C Koong, Y Nancy You, Prajnan Das, Maura L Gillison

Faculty, Staff and Student Publications

Purpose: Although detection of ctDNA weeks after surgery is linked to recurrence for other solid tumors, the optimal time point for ctDNA assessment as a prognostic biomarker following chemoradiation for anal cancer is undefined.

Experimental design: Patients with stages I to III anal cancer treated with chemoradiation between December 2020 and March 2024 were evaluated for human papillomavirus (HPV) ctDNA status at baseline, at the end of chemoradiation, and during surveillance using a droplet digital HPV ctDNA PCR assay, targeting HPV E6 and E7 oncogenes for 13 oncogenic HPV types. Median recurrence-free survival (RFS) according to HPV ctDNA status was …

Exposure-Response Relationship Of Household Air Pollution On Body Mass Index Among Women In Rural Areas Of Guatemala, India, Peru And Rwanda: Household Air Pollution Intervention Network Trial, Adolphe Ndikubwimana, Lisa De Las Fuentes, Victor G Dávila-Román, Et Al.

2020-Current year OA Pubs

BACKGROUND: Household air pollution from burning biomass materials, the main cooking fuel in low- and middle-income countries, may be linked to metabolic dysfunction. We assessed cross-sectional associations between household air pollution and body mass index (BMI), expecting to see increased BMI with higher pollution concentrations.

METHODS: We analyzed data from 414 women aged 40 to 79 years who resided in the households using biomass fuel and were enrolled in the multi-country Household Air Pollution Intervention Network (HAPIN) Trial. We explored associations of 24-h average personal exposure to fine particulate matter (PM

RESULTS: We observed mixed evidence of associations between household …

High Prevalence Of Co-Infections With Latent Tuberculosis, Syphilis And Hepatitis B And C Among People With Hiv In Ghana: A Call For Integrating Screening Into Routine Care, Helena Lamptey, James Odame Aboagye, Christopher Zaab-Yen Abana, Anthony Twumasi Boateng, Ephraim Mawufemor Kofi Kanda, Dzidzor Aku Attoh, Araba Abaidoo-Myles, Charlotte Borteley Bortey, Jonathan Klutse, Peter Puplampu, Gloria Ansa, Vincent Jessey Ganu, Joseph Oliver-Commey, Evelyn Yayra Bonney, George Boateng Kyei

2020-Current year OA Pubs

BACKGROUND: People with HIV (PWH) are at risk of co-infections, such as latent tuberculosis (LTBI), hepatitis B (HBV), hepatitis C (HCV), and syphilis; hence, routine screening is critical. However, evaluation of routine screening is not being fully implemented in Ghana. This study assessed the prevalence of these co-infections among PWH in Accra, Ghana.

METHODS: The HIV Cure Research Infrastructure Study (H-CRIS) followed 390 PWH from three HIV treatment centres in Accra. A cross-sectional study was conducted within this cohort, and participants were screened for LTBI, hepatitis B, hepatitis C, and syphilis using standardized assays. LTBI was detected using the QuantiFERON-TB …

What Happens To Conservatively Managed Chronic Subdural Haematoma., J Read, E Edlmann

Peninsula Medical School

Background: Chronic subdural haematoma (CSDH) is a common neurosurgical problem, increasingly prevalent due to an ageing population. Conservative management is an option for asymptomatic or mild cases, though data on outcomes is limited. Aim/Objective: This study aims to address critical gaps in understanding around conservatively managedCSDH and whether there are features that can predict progression and the longer-term prognosis of these patients. Methods: A retrospective cohort study was performed at a major trauma centre in the UK. All patients with chronic subdural haematoma referred from March 2019 to March 2021 were included and grouped into surgical or conservative management. Demographic, …

Fluorescence-Guided Ureteral Identification In Robotic Surgery For Advanced Endometriosis: A Comparison Of Junior Versus Senior Surgeons, Linda A Alpuing Radilla, Qiannan Yang, Daniel Y Lovell, Tamisa Koythong, Brooke Thigpen, Luis E Delgadillo Chabolla, Qianqing Wang, Xiaoming Guan

Faculty, Staff and Students Publications

Identifying the ureters in patients with advanced endometriosis and severe pelvic adhesive disease can be challenging. Adhesiolysis along the deformed pelvic sidewall may increase the risk of prolonged operative time and incidental ureteral injury. This study aimed to evaluate the safety and surgical outcomes of using Indocyanine Green (ICG) under near-infrared fluorescence for intraoperative ureteral localization and preservation during robot-assisted laparoscopic surgery (RALS) for advanced endometriosis, comparing procedures performed by two junior surgeons to those performed by one senior surgeon. This was a retrospective observational case series conducted by three minimally invasive gynecologic surgeons (X.G., T.K., B.T.) at a single …

The Effect Of Birthweight And Gestational Age On Cognitive Function In Midlife: The Bogalusa Heart Study, Eunsun Gill, David J Libon, Soo Jung Kang, Ileana De Anda-Duran, Lydia A Bazzano, Wei Chen, Camilo Fernandez-Alonso, Emily W Harville

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Although the relationships between birthweight, gestational age (GA), and cognitive function (CF) before midlife have been demonstrated, the relationships after midlife and potential racial disparities remain inconclusive. This study examined the association between birthweight, GA, and midlife CF stratified by race.

METHOD: 1,032 subjects from the Bogalusa Heart Study (67% Whites, 33% Blacks, mean age 48.1 ± 5.3 years) were studied. Cognition was assessed with tests measuring verbal episodic memory, working memory, attention, graphomotor information processing speed, and global CF. Each test was standardized by sex and age, then averaged. The global CF was computed by averaging all cognitive …

Omitting Regional Nodal Irradiation After Response To Neoadjuvant Chemotherapy, Eleftherios P Mamounas, Hanna Bandos, Julia R White, Thomas B Julian, Atif J Khan, Simona F Shaitelman, Mylin A Torres, Frank A Vicini, Patricia A Ganz, Susan A Mccloskey, Peter C Lucas, Nilendu Gupta, X Allen Li, Beryl Mccormick, Benjamin Smith, Rahul D Tendulkar, Vivek S Kavadi, Koji Matsumoto, Samantha Andrews Seaward, William J Irvin, Jolinta Y Lin, Robert W Mutter, Thierry M Muanza, Jannifer Stromberg, Reshma Jagsi, Anna C Weiss, Walter J Curran, Norman Wolmark

Faculty, Staff and Student Publications

Background: The benefit of regional nodal irradiation in the treatment of breast cancer is well established for patients with pathologically positive axillary nodes, but whether it is also beneficial for patients whose nodes become pathologically tumor free (ypN0) after neoadjuvant chemotherapy remains unclear.

Methods: We evaluated whether regional nodal irradiation improves outcomes in patients with biopsy-proven, node-positive breast cancer who reach ypN0 status after neoadjuvant chemotherapy. Patients with breast cancer with a clinical stage of T1 to T3 (tumor size, ≤2 cm to >5 cm), N1, and M0 (indicating spread to one to three axillary lymph nodes but no distant …

Variants In Bsn, Encoding The Presynaptic Protein Bassoon, Result In A Distinct Neurodevelopmental Disorder With A Broad Phenotypic Range, Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison, Katie R Sullivan, Zornitza Stark, Natasha J Brown, Sajel L Kana, Anabelle Tuttle, Jair Tenorio, Pablo Lapunzina, Julián Nevado, Marie T Mcdonald, Courtney Jensen, Patricia G Wheeler, Lila Stange, Jennifer Morrison, Boris Keren, Solveig Heide, Meg W Keating, Kameryn M Butler, Mike A Lyons, Shailly Jain, Mehdi Yeganeh, Michelle L Thompson, Molly Schroeder, Hoanh Nguyen, Jorge Granadillo, Kari M Johnston, Chaya N Murali, Katie Bosanko, T Andrew Burrow, Chop Birth Defects Biorepository, Penn Medicine Biobank, Syreeta Morgan, Deborah J Watson, Hakon Hakonarson, Ingo Helbig

Faculty, Staff and Students Publications

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders (NDDs) and epilepsy. Here, we describe 14 individuals with de novo disruptive variants in BSN, which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks. Clinical features were standardized using the Human Phenotype Ontology (HPO) across all 29 individuals, which revealed common clinical characteristics including epilepsy (13/29, 45%), febrile seizures (7/29, 25%), generalized tonic-clonic seizures (5/29, 17%), and focal-onset seizures (3/29, 10%). Behavioral phenotypes were present in almost half of all individuals (14/29, 48%), …

Cross-Sectional Analysis Of Wound-Associated Soluble Factors In Early, Established, And Chronic Wounds Of Recessive Dystrophic Epidermolysis Bullosa Patients, Vitali Alexeev, Leonie Huitema, Taylor Phillips, Paras Patel, Mauricio Garza, Franziska Ringpfeil, Julio Salas-Alanis, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Poorly healing wounds represent the primary health-related burden for hereditary recessive dystrophic epidermolysis bullosa (RDEB) patients. Contribution of wound-associated soluble constituents to wound progression remains not well defined.

OBJECTIVE: To conduct cross-sectional analysis of cytokine, chemokine, and growth factor in exudates from RDEB wounds and define changes associated with wound progression.

METHODS: Concentrations of selected cytokines, chemokines, and growth factors were evaluated by multiplex ELISA in eight blister fluids and 66 exudates from early, established, and chronic RDEB and five chronic venous ulcers (VU). A cross-sectional analysis was performed.

RESULTS: Our data demonstrated that proinflammatory CXCL8 and IL-1β tend …

Three Dimensional Multiscalar Neurovascular Nephron Connectivity Map Of The Human Kidney Across The Lifespan, Liam Mclaughlin, Bo Zhang, Siddharth Sharma, Amanda L Knoten, Madhurima Kaushal, Jeffrey M Purkerson, Heidie L Huyck, Gloria S Pryhuber, Joseph P Gaut, Sanjay Jain

2020-Current year OA Pubs

The human kidney maintains homeostasis through a complex network of up to a million nephrons, its fundamental tissue units. Using innovative tissue processing and light sheet fluorescence microscopy, we mapped the 3D neurovascular connectivity of nephrons to understand how their structural organization enables coordinated functions like filtration, absorption, and blood pressure regulation. Our analysis revealed developmental changes in glomerular orientation, density, volume, and innervation from birth through aging. We discovered an extensive nerve network connecting different nephron segments and organizing glomeruli into distinct communities. These communities are linked through "mother glomeruli" that serve as control centers, creating a repeating pattern …

Plasma Insulin-Like Growth Factor-Binding Protein-7 Is Positively Associated With Age, Obesity, Mortality, And Cancer In Postmenopausal Women, Melissa C Orenduff, Carl F Pieper, Emma H Allott, Michael F Coleman, Su Yon Jung, Mara Z Vitolins, Jenifer I Fenton, Chu Chen, Candyce H Kroenke, Fred K Tabung, Ana Barac, Electra D Paskett, Michael N Pollak, Jennifer Hays-Grudo, Shine Chang, Stephen D Hursting

Faculty, Staff and Student Publications

Background: Predictors of premature death and cancer development are needed to more precisely identify individuals who may warrant preventive intervention. Circulating insulin-like growth factor (IGF)-binding protein-7 (IGFBP7) and, to a lesser extent, the IGFBP7/IGF-1 ratio are emerging biomarkers of renal and cardiovascular morbidity. However, their relationships with aging, obesity, mortality, and cancer risk remain unclear.

Methods: This hypothesis-generating study investigated plasma IGFBP7, IGF-1, and their ratio as predictors of all-cause mortality and the incidence of any cancer (excluding nonmelanoma skin cancer), obesity-related cancer (composite of 13 cancer types), and breast cancer in a large longitudinal cohort of postmenopausal women. We …

Comparison Of Open And Laparo-Endoscopic Repair Techniques For Patients With Bilateral Inguinal Hernias, Divyansh Agarwal, Tina Bharani, Nora Fullington, Lauren Ott, Kortney Hodgson, Daelyn Mcclain, Kaela Blake, Michael Reinhorn

Department of Surgery Faculty Papers

INTRODUCTION: For primary bilateral inguinal hernias, international guidelines favor a laparoscopic posterior mesh repair due to relatively lower risk of acute and chronic pain, faster recovery, and favorable biomechanical properties compared to open anterior approaches (Lichtenstein, plug and patch, etc.). However, studies comparing open mesh-based bilateral inguinal hernia repairs to bilateral laparoscopic and robotic mesh-based approaches are limited. The Abdominal Core Health Quality Collaborative (ACHQC) registry includes longitudinal data on bilateral inguinal hernia repairs performed via open as well as laparo-endoscopic approaches. We hypothesize that outcomes for bilateral inguinal hernia repair are similar between open and laparo-endoscopic approaches in the …

A Meta-Analysis And Systematic Review Of Cardiac Troponin I Vs T In Community Dwelling Adults: Is Specificity At Risk?, Yashika Parashar, Aya Awwad, Soahum Bagchi, Brian Claggett, Saman Asad Siddiqui, Ajari Winifred Ogheneochuko, Christie M Ballantyne, Christopher Defilippi

Faculty, Staff and Students Publications

Background: Cardiac troponin I and T measured by high-sensitivity assays (hs-cTn) are detectable in most ambulatory adults. Hs-cTnI and T may perform differently for prediction of cardiovascular (CV) events. In adults with myopathies and advanced age, hs-cTnT can lose CV specificity. We undertook a meta-analysis of ambulatory studies measuring hs-cTn to determine whether hs-cTnI is a superior predictor of CV outcomes.

Methods: Articles evaluating hs-cTnI or T for incident heart failure (HF), myocardial infarction (MI), CV, and all-cause death in ambulatory adults were screened. Adjusted HRs were extracted standardized as hs-cTn tertile 3 vs 1. Pooled effects were calculated, and …

Lipoprotein(A) And Heart Failure Among Black And White Participants In Atherosclerosis Risk In Communities Study, Framingham Offspring Study, And Multi-Ethnic Study Of Atherosclerosis: The Pooling Project, Sarah Nomura, Weihua Guan, Yixin Zhang, Geoffrey H Tison, Hiroaki Ikezaki, Margaret R Diffenderfer, Ching-Ti Liu, Ron C Hoogeveen, Christie M Ballantyne, Ernst J Schaefer, Michael Y Tsai

Faculty, Staff and Students Publications

Background: This study investigated Lp(a) (lipoprotein(a)) levels with heart failure (HF) incidence overall and ejection fraction (EF) subtypes among Black and White participants in a pooled analysis of MESA (Multi-Ethnic Study of Atherosclerosis), FOS (Framingham Offspring Study), and ARIC (Atherosclerosis Risk in Communities Study).

Methods: This study was conducted among 16 771 White and Black participants in ARIC (N=10 347), MESA (N=4150), and FOS (N=2274). Baseline was time of Lp(a) measurement (ARIC Visit 4: 1996-1998; MESA Visit 1: 2000-2002; FOS Cycle 6: 1995-1998). HF with reduced EF (HFrEF) was defined as EF < 50% and ≥50% as HF with preserved EF (HFpEF). Cox proportional hazards regression was used to evaluate associations between Lp(a) (log-transformed continuous, dichotomized at ≥30 mg/dL and ≥50 mg/dL, and quartiles) and HF (overall, HFpEF, HFrEF) in the overall population and stratified by race. Analyses were replicated excluding prior history of myocardial infarction.

Results: There were 2759 HF cases (HFpEF N=859; …

Validation Of A Dynamic Risk Prediction Model Incorporating Prior Mammograms In A Diverse Population, Shu Jiang, Debbie L Bennett, Graham A Colditz

2020-Current year OA Pubs

IMPORTANCE: For breast cancer risk prediction to be clinically useful, it must be accurate and applicable to diverse groups of women across multiple settings.

OBJECTIVE: To examine whether a dynamic risk prediction model incorporating prior mammograms, previously validated in Black and White women, could predict future risk of breast cancer across a racially and ethnically diverse population in a population-based screening program.

DESIGN, SETTING, AND PARTICIPANTS: This prognostic study included women aged 40 to 74 years with 1 or more screening mammograms drawn from the British Columbia Breast Screening Program from January 1, 2013, to December 31, 2019, with follow-up …

Virtual Patient-Pcp-Hospitalist Care Transition Meeting Before Hospital Discharge, Jing Li, Matthew D Reuter, Jennifer M Schmidt, Nathan Moore, Nickole Forget, Jennifer Carron, Janice K Ernest, Mark V Williams

2020-Current year OA Pubs

IMPORTANCE: The fragmented health care system presents significant challenges to promoting trust with hospitalized patients.

OBJECTIVE: To test the feasibility and perceptions of a digital connection tool for communication among patients, hospitalists, and primary care practitioners (PCPs).

DESIGN, SETTING, AND PARTICIPANTS: This quality improvement study was conducted as a feasibility pilot study from September 2022 to June 2023 on medical floors across 3 hospitals. Participants included adult inpatients, the hospitalists who managed their care, and the patients' PCPs. Data were analyzed from September 2023 to April 2025.

EXPOSURE: Structured, video-mediated interaction among the patient, family caregiver (if available), hospitalist, and …

Deriving A Mammogram-Based Risk Score From Screening Digital Breast Tomosynthesis For 5-Year Breast Cancer Risk Prediction, Shu Jiang, Debbie L Bennett, Graham A Colditz

2020-Current year OA Pubs

Screening digital breast tomosynthesis (DBT) aims to identify breast cancer early when treatment is most effective, leading to reduced mortality. In addition to early detection, the information contained within DBT images may also inform subsequent risk stratification and guide risk-reducing management. Using transfer learning, we refined a model in the Joanne Knight Breast Health Cohort at Washington University, a cohort of 5,066 women with DBT screening (mean age, 54.6), among whom 105 were diagnosed with breast cancer (26 ductal carcinoma in situ). We applied the model to external data from the Emory Breast Imaging Dataset, a cohort of 7,017 women …

A Comprehensive, Multi-Center, Immunogenomic Analysis Of Melanoma Brain Metastases, Lucy Boyce Kennedy, Amanda E D Van Swearingen, Marissa R Lee, Layne W Rogers, Alexander B Sibley, Jeff Sheng, Dadong Zhang, Xiaodi Qin, Eric S Lipp, Swaminathan Kumar, Aron Joon, Pixu Shi, Michael A Davies, Kouros Owzar, Carey K Anders, April K S Salama

Faculty, Staff and Student Publications

Background: Melanoma brain metastases (MBM) have a unique molecular profile compared to extracranial metastases (ECM). Description of the biological features and clinical outcomes of MBM will facilitate the design of rational therapies.

Methods: We examined the mutational landscape and gene expression profiles of MBM (74 patients) and ECM (34 patients) in paired patient samples from a previously published dataset with whole-exome sequencing (WES) and RNA sequencing (RNAseq) data from MD Anderson Cancer Center (MDACC). We also present findings from MBM from a new cohort of 14 patients from Duke University to strengthen investigation of somatic mutations and gene expression profiles. …

Estimated Burden Of Coccidioidomycosis, Samantha L Williams, Andrej Spec, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Coccidioidomycosis is an underrecognized fungal infection that can cause serious illness and constitutes a considerable public health burden. The number of cases is likely substantially higher than the nationally reported total, as surveillance does not capture patients who do not seek medical care or who are undiagnosed or misdiagnosed. Coccidioidomycosis is not reportable in all states, and cases not reported to public health entities are likewise missed. A systematic estimate of coccidioidomycosis burden is needed to raise awareness and inform public health interventions and policy.

OBJECTIVE: To assess the annual burden of symptomatic coccidioidomycosis in the US.

DESIGN, SETTING, …

Multicenter Validation Of A Machine Learning Model For Surgical Transfusion Risk At 45 Us Hospitals, Sunny S Lou, Sayantan Kumar, Charles W Goss, Michael S Avidan, Sachin Kheterpal, Thomas Kannampallil, Multicenter Perioperative Outcomes Group

2020-Current year OA Pubs

IMPORTANCE: Accurate estimation of surgical transfusion risk is important for perioperative planning and effective resource allocation. Most machine learning models in health care are not validated or perform poorly in external settings.

OBJECTIVE: To externally validate a publicly available machine learning algorithm (Surgical Personalized Anticipation of Transfusion Hazard [S-PATH]) to estimate red cell transfusion during surgery within a national sample of hospitals.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study evaluated all surgical cases performed in 2020 or 2021 at 45 US hospitals participating in the Multicenter Perioperative Outcomes Group. Obstetric and nonoperative cases were excluded. Data analysis was performed …

Workplace Perk Or Pitfall? A Qualitative Study Of Genetic Counselors' Perspectives And Experiences With Workplace Genetic Testing., Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E R Prince, W Gregory Feero, Alyx Vogle, Sarah Mccain, Alexandra Truhlar, J Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R Uhlmann, The Insight @ Work Consortium

Faculty Research 2025

Some employers offer genetic testing for increased cancer and cardiovascular disease risk, as well as pharmacogenetic variants, as a wellness benefit, which presents unique considerations for genetic counseling. Our ethical, legal, and social implications (ELSI) of genomics study, positioned in a post-positivist paradigm, aimed to qualitatively assess the perspectives and experiences of genetic counselors (GCs) who had counseled on workplace genetic testing (wGT). Semi-structured interviews were conducted with 18 US GCs who either worked in the wGT industry (i.e., role-directed wGT experience) or provided post-test counseling in a clinical setting (i.e., patient-directed wGT experience). Interviews were analyzed following the principles …

Colorectal Adenosquamous Carcinoma: Clinicopathologic Analysis Of Two Large Cohorts And Literature Review Confirm Poor Prognosis And Reveal Prognostic Aspects, Raul S Gonzalez, Rachel K Horton, Xuchen Zhang, Rondell P Graham, Teri A Longacre, Anupamjit Mehrotra, Daniela S Allende, Kelsey E Mchugh, Jinru Shia, Maria Westerhoff, Amitabh Srivastava, Wei Chen, Jennifer Vazzano, Paul E Swanson, Deyali Chatterjee, Hassam Cheema, Changqing Ma, Rifat Mannan, Runjan Chetty, Klaudia M Nowak, Stefano Serra, Diana Agostini-Vulaj, Rossana Kazemimood, Patrick Henn, Sanjay Kakar, Won-Tak Choi, Oyedele Adeyi, Sarah M Jenkins, Iris D Nagtegaal

Faculty, Staff and Student Publications

Aims: We compiled two cohorts of colorectal adenosquamous carcinoma (ASC) to describe its histologic and molecular aspects using modern parameters to compare them with literature reports using meta-analysis of cohorts and individual case series.

Methods and results: We identified 53 colorectal ASC from 19 North American academic medical centres, in addition to national database reports on 94 Dutch cases. We analysed available clinical, histologic, and immunohistochemical features and patient outcome. ASC comprised 0.02% of colorectal cancers in the Dutch database. The median cohort patient ages at resection were 65 and 69 years (North American and Dutch cohorts, respectively), with a …

Facilitators And Barriers To Neurologist Referral Of Patients For Epilepsy Surgery Evaluation., Chloé E Hill, Daniel Hochster, Jessica E Baker, Alison L Herman, Nishad Shaheid, Susanna S O'Kula, Jack M Parent, Darin B Zahuranec, Lesli E Skolarus

Neuroscience Articles

OBJECTIVE: Epilepsy surgery offers a potential cure for drug-resistant epilepsy (DRE), yet surgery is underutilized. An estimated 5% of patients with DRE undergo long-term EEG monitoring (LTM) annually, the requisite first step of evaluation for surgical candidacy. Much of the variation in LTM referral may be attributable to individual neurologist practice rather than patient characteristics. We explored neurologist behaviors and practices in epilepsy surgery referral to guide future interventions to expand patient access to surgery.

METHODS: This qualitative interview study recruited neurologists who treated adults with epilepsy. Interviews were grounded in the Theoretical Domains Framework (TDF) of behavior change to …

Perceptions Of Smoking Stigma Among African Americans: A Qualitative Study, Denine R. Crittendon, Alison C. Brecher, Samantha Okere, Richard Hass, Rosemary Frasso, Rickie Brawer, Mph, Phd, Charnita Zeigler-Johnson

College of Population Health Faculty Papers

INTRODUCTION: African Americans/Blacks (AAB) are at increased risk for morbidity and mortality from smoking-related diseases including lung cancer (LC). Smoking stigma is believed to be a primary barrier to health care-seeking for people who smoke. Previous studies illustrate that perceptions of smoking vary across populations. However, little is known about the prevalence of smoking stigmas among AAB. The purpose of this study was to increase understanding of the perception of cigarette smoking by AAB.

AIMS AND METHODS: We conducted free-listing interviews in which individuals listed all-thoughts and feelings regarding smoking and health-related questions with a convenience sample of eligible AAB …

Utility Of Revised Risk Analysis Index As A Predictor Of Mortality And Morbidity In Orthopaedic Trauma., Chirag Soni, Victor Koltenyuk, Nithin Gupta, Haad A Arif, Aruni Areti, Taylor Manes, Luke A Lopas, Jan P Szatkowski, Christian A Bowers, Benjamin C Taylor, Jack W Weick

Trauma and Acute Care Articles

OBJECTIVES: The aim of this study was to determine the applicability of the Revised Risk Analysis Index (RAI-Rev) in orthopaedic trauma and compare the predictive discrimination for the RAI-Rev and the 5-Item Modified Frailty Index (mFI-5) for 30-day postoperative outcomes.

DESIGN: This is a retrospective cohort study.

SETTING: The American College of Surgeons National Surgical Quality Improvement database was used.

PATIENT SELECTION: All patients aged 18 or older who underwent surgical treatment for forearm, humerus, pelvis, acetabulum, femur, tibia, and hindfoot fractures from 2015 to 2020 were included.

OUTCOME: 30-day postoperative mortality, major complications, and wound complications consisting of surgical …

Long-Term Non-Conditional And Conditional Metastasis Of Uveal Melanoma By Tumor Size Category In 8034 Patients, Rolika Bansal, Hidayet Sener, Jerry A. Shields, Carol L. Shields

Wills Eye Hospital Papers

PURPOSE: To estimate metastasis of patients with uveal melanoma (UM) based on tumor size categories classified by ultrasonographic thickness as small (0.0-3.0 mm), medium (3.1-8.0 mm), or large (≥8.1 mm) using both non-conditional and conditional analyses.

DESIGN: Retrospective analysis.

METHODS: A retrospective study of 8034 cases over 35-years at a single ocular oncology referral center evaluated the primary endpoint of cumulative incidence of metastasis at 5-, 10-, 15-, 20-, 25- and 30-years using non-conditional and conditional analysis at 3-years, 5-years, and 10-years of metastasis-free survival.

RESULTS: The mean thicknesses for small, medium, and large UMs were 2.5 mm, 5.0 mm, …

Plasma Mtbr-Tau243 Biomarker Identifies Tau Tangle Pathology In Alzheimer's Disease, Kanta Horie, Rama K Koppisetti, Nicolas R Barthélemy, Yingxin He, Chihiro Sato, Brian A Gordon, Hong Jiang, Tammie L S Benzinger, David M Holtzman, John C Morris, Suzanne E Schindler, Randall J Bateman, Et Al.

2020-Current year OA Pubs

Insoluble tau aggregates within neurofibrillary tangles are a defining neuropathological feature of Alzheimer's disease (AD) and closely correlate with clinical symptoms. Although tau pathology can be assessed using tau positron emission tomography, a more accessible biomarker is needed for diagnosis, prognosis and tracking treatment effects. Here we present a new plasma tau species, the endogenously cleaved, microtubule-binding region containing residue 243 (eMTBR-tau243), which specifically reflects tau tangle pathology. Across the AD spectrum in three different cohorts (n = 108, 55 and 739), plasma eMTBR-tau243 levels were significantly elevated at the mild cognitive impairment stage and increased further in dementia. Plasma …

The Medial Antebrachial Cutaneous Nerve Is A Low-Morbidity Alternative To The Standard Sural Nerve Autograft, Stahs Pripotnev, Sai L Pinni, Suzanne Zhou, Gary Skolnick, Susan E Mackinnon

2020-Current year OA Pubs

BACKGROUND: Nerve interposition grafting is an important technique in nerve reconstructive surgery that is used when a primary repair is not feasible without significant tension. This study sought to evaluate the long-term morbidity of the medial antebrachial cutaneous (MABC) nerve as an alternative donor nerve in comparison with sural nerve harvest.

METHODS: A single surgeon and institution retrospective chart review was performed to identify all patients who underwent nerve autografting using the sural and MABC as donor nerves between January 1, 2000 and December 31, 2019. Surveys assessed overall patient satisfaction with surgery, as well as donor and recipient site …