Digital Commons Network^™

Identify And Overcome The Barriers Of Care From A Patient And Provider Perspective In Adult Patients With Type 2 Diabetes Mellitus In A Federal Qualified Health Clinic: A Quality Improvement Project, Jill Miscovich

Doctor of Nursing Practice (DNP) Manuscripts

Diabetes is a significant healthcare issue that not only effects the United States but also has a global impact, it is costly for the workforce and to manage. Diabetes management is more complex in rural areas due to increased SDOH and barriers to care. The purpose of this quality improvement (QI) project is to identify and overcome the barriers to care from the patients and nurse practitioners’ (NPs) perspectives in adult patients with type 2 diabetes mellitus (T2DM) in a rural federal qualified health clinic (FQHC). A mixed method approach was used including qualitative and quantitative data project manager created …

Identify And Overcome The Barriers To Care From A Patient And Provider Perspective In Adult Patients With T2dm In A Rural Federal Qualified Health Clinic (Fqhc): A Quality Improvement (Qi) Project, Jill Miscovich

Doctor of Nursing Practice (DNP) Manuscripts

Diabetes is a significant healthcare issue that not only effects the United States but also has a global impact, it is costly for the workforce and to manage. Diabetes management is more complex in rural areas due to increased SDOH and barriers to care. The purpose of this quality improvement (QI) project is to identify and overcome the barriers to care from the patients and nurse practitioners’ (NPs) perspectives in adult patients with type 2 diabetes mellitus (T2DM) in a rural federal qualified health clinic (FQHC). A mixed method approach was used including qualitative and quantitative data project manager created …

Inotuzumab Ozogamicin For The Treatment Of Adult Acute Lymphoblastic Leukemia: Past Progress, Current Research And Future Directions, Nicholas J Short, Elias Jabbour, Nitin Jain, Hagop Kantarjian

Faculty, Staff and Student Publications

Inotuzumab ozogamicin (INO) is an anti-CD22 antibody-drug conjugate that was first evaluated in B-cell lymphomas but was subsequently shown to be highly effective in acute lymphoblastic leukemia (ALL). INO improved response rates and survival in a randomized study in adults with relapsed/refractory B-cell ALL, leading to its regulatory approval in the United States in 2017. While the formal approval for INO is as monotherapy in relapsed/refractory ALL, subsequent studies with INO administered in combination with chemotherapy and/or blinatumomab both in the frontline and salvage settings have yielded promising results. In this review, we discuss the clinical development of INO in …

Clinical, Genetic, And Cognitive Correlates Of Seizure Occurrences In Phelan-Mcdermid Syndrome, Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder, M Pilar Trelles, Kristina Johnson, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava

Duncan NRI Faculty and Staff Publications

Background: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome.

Methods: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, …

Topical Platelet-Rich Plasma As A Possible Treatment For Olfactory Dysfunction-A Randomized Controlled Trial, Alexander Duffy, Bita Naimi, Emily Garvey, Stephanie Hunter, Ayan Kumar, Chase Kahn, Douglas Farquhar, Glen D'Souza, Nancy Rawson, Pamela Dalton, Elina Toskala, Mindy Rabinowitz, Marc Rosen, Gurston G. Nyquist, David Rosen

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

BACKGROUND: Olfactory dysfunction (OD) affects many survivors of COVID-19. Prior studies have investigated the use of platelet-rich plasma (PRP) injections for OD. We describe the first randomized controlled trial investigating topical PRP for OD treatment and contribute to existing literature illustrating PRP as an emerging therapeutic.

METHODS: This is a single-blinded, randomized controlled trial conducted from July 2022 to December 2023. Adult patients with OD ≥6 months secondary to COVID-19 with Brief Smell Identification Test (BSIT) scores of ≤8/12 or SCENTinel odor intensity of ≤40/100 were included. Patients were randomized to three, monthly PRP or placebo-impregnated Surgifoam treatments into bilateral …

Distinct Autoantibody Profiles Across Checkpoint Inhibitor Types And Toxicities, Hong Mu-Mosley, Mitchell S Von Itzstein, Farjana Fattah, Jialiang Liu, Chengsong Zhu, Yang Xie, Edward K Wakeland, Jason Y Park, Brad S Kahl, Catherine S Diefenbach, David E Gerber

2020-Current year OA Pubs

Immune checkpoint inhibitors (ICI) are increasingly used in combination. To understand the effects of different ICI categories, we characterized changes in circulating autoantibodies in patients enrolled in the E4412 trial (NCT01896999) of brentuximab vedotin (BV) plus ipilimumab, BV plus nivolumab, or BV plus ipilimumab-nivolumab for Hodgkin Lymphoma. Cycle 2 Day 1 (C2D1) autoantibody levels were compared to pre-treatment baseline. Across 112 autoantibodies tested, we generally observed increases in ipilimumab-containing regimens, with decreases noted in the nivolumab arm. Among 15 autoantibodies with significant changes at C2D1, all nivolumab cases exhibited decreases, with more than 90% of ipilimumab-exposed cases showing increases. Autoantibody …

Imaging Features Of Primary Intracranial Sarcoma With Dicer1 Mutation: A Multicenter Case Series, Rami W Eldaya, Richard J Fagan, Samir A Dagher, Angshumoy Roy, Sonika Dahyia, Gregory N Fuller, Max Wintermark, Matthew S Parsons, Thierry A G M Huisman

Faculty, Staff and Student Publications

Primary intracranial sarcoma, DICER1-mutant, is a rare, recently described entity in the fifth edition of the WHO Classification of CNS Tumors. Given the entity's rarity and recent description, imaging data on primary intracranial sarcoma, DICER1-mutant, remains scarce. In this multicenter case series, we present detailed multimodality imaging features of primary intracranial sarcoma, DICER1-mutant, with emphasis on the appearance of the entity on MR imaging. In total, 8 patients were included. In all 8 patients, the lesion demonstrated blood products on T1WI. In 7 patients, susceptibility-weighted imaging was obtained and demonstrated blood products. Primary intracranial sarcoma, DICER1-mutant, …

Risks Of Depression, Anxiety, And Suicide In Partners Of Men With Prostate Cancer: A National Cohort Study, Casey Crump, Pär Stattin, James D Brooks, Jan Sundquist, Alexis C Edwards, Kristina Sundquist, Weiva Sieh

Faculty, Staff and Student Publications

BACKGROUND: A diagnosis of prostate cancer (PC) may cause psychosocial distress not only in a man but also in his intimate partner. However, long-term risks of depression, anxiety, or suicide in partners of men with PC are largely unknown.

METHODS: A national cohort study was conducted of 121 530 partners of men diagnosed with PC during 1998-2017 and 1 093 304 population-based controls in Sweden. Major depression, anxiety disorder, and suicide death were ascertained through 2018. Cox regression was used to compute hazard ratios (HRs) while adjusting for sociodemographic factors.

RESULTS: Partners of men with high-risk PC had increased risks …

Prevalence Of Cardiovascular Conditions After Traumatic Brain Injury: A Comparison Between The Traumatic Brain Injury Model Systems And The National Health And Nutrition Examination Survey, Shanti Pinto, Bhaskar Thakur, Raj Kumar, Amanda Rabinowitz, Ross Zafonte, William C Walker, Kan Ding, Simon Driver, Umesh Venkatesan, Gilbert Moralez, Kathleen Bell

Department of Rehabilitation Medicine Faculty Papers

BACKGROUND: The purpose of this study is to compare the prevalence of self-reported cardiovascular conditions among individuals with moderate to severe traumatic brain injury (TBI) to a propensity-matched control cohort.

METHODS AND RESULTS: A cross-sectional study described self-reported cardiovascular conditions (hypertension, congestive heart failure [CHF], myocardial infarction [MI], and stroke) from participants who completed interviews between January 2015 and March 2020 in 2 harmonized large cohort studies, the TBI Model Systems and the National Health and Nutrition Examination Survey. Mixed-effect logistic regression models were used to compare the prevalence of cardiovascular conditions after 1:1 propensity-score matching based on age, sex, …

Researching Covid To Enhance Recovery (Recover) Pediatric Study Protocol: Rationale, Objectives And Design., Rachel S. Gross, Tanayott Thaweethai, Erika B. Rosenzweig, James Chan, Lori B. Chibnik, Mine S. Cicek, Amy J. Elliott, Valerie J. Flaherman, Andrea S. Foulkes, Margot Gage Witvliet, Richard Gallagher, Maria Laura Gennaro, Terry L. Jernigan, Elizabeth W. Karlson, Stuart D. Katz, Patricia A. Kinser, Lawrence C. Kleinman, Michelle F. Lamendola-Essel, Joshua D. Milner, Sindhu Mohandas, Praveen C. Mudumbi, Jane W. Newburger, Kyung E. Rhee, Amy L. Salisbury, Jessica N. Snowden, Cheryl R. Stein, Melissa S. Stockwell, Kelan G. Tantisira, Moriah E. Thomason, Dongngan T. Truong, David Warburton, John C. Wood, Shifa Ahmed, Almary Akerlundh, Akram N. Alshawabkeh, Brett R. Anderson, Judy L. Aschner, Andrew M. Atz, Robin L. Aupperle, Fiona C. Baker, Venkataraman Balaraman, Dithi Banerjee, Deanna M. Barch, Arielle Baskin-Sommers, Sultana Bhuiyan, Marie-Abele C. Bind, Amanda L. Bogie, Tamara Bradford, Natalie C. Buchbinder, Elliott Bueler, Hülya Bükülmez, B J Casey, Linda Chang, Maryanne Chrisant, Duncan B. Clark, Rebecca G. Clifton, Katharine N. Clouser, Lesley Cottrell, Kelly Cowan, Viren D'Sa, Mirella Dapretto, Soham Dasgupta, Walter Dehority, Audrey Dionne, Kirsten B. Dummer, Matthew D. Elias, Shari Esquenazi-Karonika, Danielle N. Evans, E Vincent S. Faustino, Alexander G. Fiks, Daniel Forsha, John J. Foxe, Naomi P. Friedman, Greta Fry, Sunanda Gaur, Dylan G. Gee, Kevin M. Gray, Stephanie Handler, Ashraf S. Harahsheh, Keren Hasbani, Andrew C. Heath, Camden Hebson, Mary M. Heitzeg, Christina M. Hester, Sophia Hill, Laura Hobart-Porter, Travis K F Hong, Carol R. Horowitz, Daniel S. Hsia, Matthew Huentelman, Kathy D. Hummel, Katherine Irby, Joanna Jacobus, Vanessa L. Jacoby, Pei-Ni Jone, David C. Kaelber, Tyler J. Kasmarcak, Matthew J. Kluko, Jessica S. Kosut, Angela R. Laird, Jeremy Landeo-Gutierrez, Sean M. Lang, Christine L. Larson, Peter Paul C. Lim, Krista M. Lisdahl, Brian W. Mccrindle, Russell J. Mcculloh, Kimberly Mchugh, Alan L. Mendelsohn, Torri D. Metz, Julie Miller, Elizabeth C. Mitchell, Lerraughn M. Morgan, Eva M. Müller-Oehring, Erica R. Nahin, Michael C. Neale, Manette Ness-Cochinwala, Sheila M. Nolan, Carlos R. Oliveira, Onyekachukwu Osakwe, Matthew E. Oster, R Mark Payne, Michael A. Portman, Hengameh Raissy, Isabelle G. Randall, Suchitra Rao, Harrison T. Reeder, Johana M. Rosas, Mark W. Russell, Arash A. Sabati, Yamuna Sanil, Alice I. Sato, Michael S. Schechter, Rangaraj Selvarangan, S Kristen Sexson Tejtel, Divya Shakti, Kavita Sharma, Lindsay M. Squeglia, Shubika Srivastava, Michelle D. Stevenson, Jacqueline Szmuszkovicz, Maria M. Talavera-Barber, Ronald J. Teufel, Deepika Thacker, Felicia Trachtenberg, Mmekom M. Udosen, Megan R. Warner, Sara E. Watson, Alan Werzberger, Jordan C. Weyer, Marion J. Wood, H Shonna Yin, William T. Zempsky, Emily Zimmerman, Benard P. Dreyer, Recover-Pediatric Consortium

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: The prevalence, pathophysiology, and long-term outcomes of COVID-19 (post-acute sequelae of SARS-CoV-2 [PASC] or "Long COVID") in children and young adults remain unknown. Studies must address the urgent need to define PASC, its mechanisms, and potential treatment targets in children and young adults.

OBSERVATIONS: We describe the protocol for the Pediatric Observational Cohort Study of the NIH's REsearching COVID to Enhance Recovery (RECOVER) Initiative. RECOVER-Pediatrics is an observational meta-cohort study of caregiver-child pairs (birth through 17 years) and young adults (18 through 25 years), recruited from more than 100 sites across the US. This report focuses on two of …

Boosting Self-Efficacy And Improving Practices For Smoking Prevention And Cessation Among South American Cancer Care Providers With A Web-Based Algorithm, Irene Tamí-Maury, Samuel Tundealao, Valeri Noé-Díaz, Esperanza Garcia, Vilma Diaz, Jennie Meier, Mira Dani, Tatiana Vidaurre

Faculty, Staff and Student Publications

Background: Digital technologies have positively impacted the availability and usability of clinical algorithms through the advancement in mobile health. Therefore, this study aimed to determine if a web-based algorithm designed to support the decision-making process of cancer care providers (CCPs) differentially impacted their self-reported self-efficacy and practices for providing smoking prevention and cessation services in Peru and Colombia.

Methods: A simple decision-making tree algorithm was built in REDCap using information from an extensive review of the currently available smoking prevention and cessation resources. We employed a pre-post study design with a mixed-methods approach among 53 CCPs in Peru and Colombia …

Crizanlizumab For Retinal Vasculopathy With Cerebral Leukoencephalopathy In A Phase Ii Clinical Study, Wilson X. Wang, Dan Spiegelman, P. Kumar Rao, Andria L. Ford, Rajendra S. Apte

2020-Current year OA Pubs

BackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, autosomal dominant, universally fatal disease without effective treatment options. This study explores the safety and preliminary efficacy of crizanlizumab, a humanized monoclonal antibody against P-selectin approved for the prevention of sickle cell crises, in slowing retinal nonperfusion and preserving vision in patients with RVCL-S.METHODSEleven patients with RVCL-S with confirmed exonuclease 3 prime repair exonuclease 1 (TREX1) mutations received monthly crizanlizumab infusions over 2 years. The study measured the nonperfusion index within 3 retinal zones and the total retina with fluorescein angiography, visual acuity, intraocular pressure (IOP), and optical …

Persistent Inequities In Intravenous Thrombolysis For Acute Ischemic Stroke In The United States: Results From The Nationwide Inpatient Sample, Philip Sun, Ling Zheng, Michelle Lin, Steven Cen, Gmerice Hammond, Karen E Joynt Maddox, May Kim-Tenser, Nerses Sanossian, William Mack, Amytis Towfighi

2020-Current year OA Pubs

BACKGROUND: Despite its approval for acute ischemic stroke >25 years ago, intravenous thrombolysis (IVT) remains underused, with inequities by age, sex, race, ethnicity, and geography. Little is known about IVT rates by insurance status.

METHODS AND RESULTS: We assessed temporal trends from 2002 to 2015 in IVT for acute ischemic stroke in the Nationwide Inpatient Sample using adjusted, survey

CONCLUSIONS: IVT for acute ischemic stroke increased among adults. Despite some encouraging trends, the remaining disparities highlight the need for intensified efforts at addressing inequities.

Factitious Disorder Presenting As Sickle Cell Disease: A Case Report, Jeremy Jacobs, Juliana Guarente, Julie Karp, Brenda Grossman, Alyssa Ziman, Andrea Mcgonigle, Thomas Binns, Tappy Gish, James Gorham, Yara Park, Ingrid Perez-Alvarez, James Burner, Zhen Mei, Dawn Ward, Jennifer Woo, Garrett Booth, Brian Adkins, Christopher Webb, Chisa Yamada, Grace Lee, Elizabeth Abels, Marisa Marques, Elizabeth Allen, Ross Fasano, Elizabeth Crowe, Aaron Tobian, Christopher Tormey, Evan Bloch

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

No abstract provided.

Stay On Track: A Pilot Randomized Control Trial On The Feasibility Of A Diet And Exercise Intervention In Patients With Breast Cancer Receiving Radiotherapy, Gopika Senthilkumar, Aronne M Schottstaedt, Lindsay L Peterson, Lauren N Pedersen, Christopher R Chitambar, Alexis Vistocky, Anjishnu Banerjee, John M Longo, Tracy Kelly, Adam Currey, Melinda R Stolley, Carmen Bergom

2020-Current year OA Pubs

PURPOSE: Among patients with breast cancer undergoing radiotherapy, posttreatment cardiovascular disease and worsened quality of life (QoL) are leading causes of morbidity and mortality. To overcome these negative radiotherapy effects, this prospective, randomized clinical trial pilots a 12-week Stay on Track exercise and diet intervention for overweight patients with nonmetastatic breast cancer undergoing whole-breast radiotherapy.

EXPERIMENTAL DESIGN: The intervention group (n = 22) participated in three personal exercise and dietary counseling sessions, and received three text reminders/week to adhere to recommendations. The control group (n = 22) was administered a diet/exercise information binder. All patients received a Fitbit, and at …

Prevalence Of The Cardiovascular-Kidney-Metabolic Syndrome In The United States, Abdul Mannan Khan Minhas, Roy O Mathew, Laurence S Sperling, Vijay Nambi, Salim S Virani, Sankar D Navaneethan, Michael D Shapiro, Dmitry Abramov

Faculty, Staff and Students Publications

No abstract provided.

Diet-Omics In The Study Of Urban And Rural Crohn Disease Evolution (Source) Cohort, Tzipi Braun, Rui Feng, Amnon Amir, Nina Levhar, Hila Shacham, Ren Mao, Rotem Hadar, Itamar Toren, Yadid Algavi, Kathleen Abu-Saad, Shuoyu Zhuo, Gilat Efroni, Alona Malik, Orit Picard, Miri Yavzori, Bella Agranovich, Ta-Chiang Liu, Thaddeus S Stappenbeck, Lee Denson, Ofra Kalter-Leibovici, Eyal Gottlieb, Elhanan Borenstein, Eran Elinav, Minhu Chen, Shomron Ben-Horin, Yael Haberman

Faculty, Staff and Student Publications

Crohn disease (CD) burden has increased with globalization/urbanization, and the rapid rise is attributed to environmental changes rather than genetic drift. The Study Of Urban and Rural CD Evolution (SOURCE, n = 380) has considered diet-omics domains simultaneously to detect complex interactions and identify potential beneficial and pathogenic factors linked with rural-urban transition and CD. We characterize exposures, diet, ileal transcriptomics, metabolomics, and microbiome in newly diagnosed CD patients and controls in rural and urban China and Israel. We show that time spent by rural residents in urban environments is linked with changes in gut microbial composition and metabolomics, which …

Diet-Omics In The Study Of Urban And Rural Crohn Disease Evolution (Source) Cohort, Tzipi Braun, Ta-Chiang Liu, Et Al.

2020-Current year OA Pubs

Crohn disease (CD) burden has increased with globalization/urbanization, and the rapid rise is attributed to environmental changes rather than genetic drift. The Study Of Urban and Rural CD Evolution (SOURCE, n = 380) has considered diet-omics domains simultaneously to detect complex interactions and identify potential beneficial and pathogenic factors linked with rural-urban transition and CD. We characterize exposures, diet, ileal transcriptomics, metabolomics, and microbiome in newly diagnosed CD patients and controls in rural and urban China and Israel. We show that time spent by rural residents in urban environments is linked with changes in gut microbial composition and metabolomics, which …

Treatment Outcomes In Patients With Metastatic Renal Cell Carcinoma With Sarcomatoid And/Or Rhabdoid Dedifferentiation After Progression On Immune Checkpoint Therapy, Andrew W Hahn, Devaki Shilpa Surasi, Paul V Viscuse, Tharakeswara K Bathala, Andrew J Wiele, Matthew T Campbell, Amado J Zurita, Amishi Y Shah, Eric Jonasch, Jianjun Gao, Sangeeta Goswami, Omar Alhalabi, Priya Rao, Kanishka Sircar, Nizar M Tannir, Pavlos Msaouel

Faculty, Staff and Student Publications

BACKGROUND: Metastatic RCC with sarcomatoid and/or rhabdoid (S/R) dedifferentiation is an aggressive disease associated with improved response to immune checkpoint therapy (ICT). The outcomes of patients treated with VEGFR-targeted therapies (TT) following ICT progression have not been investigated.

PATIENTS AND METHODS: Retrospective review of 57 patients with sarcomatoid (S), rhabdoid (R), or sarcomatoid plus rhabdoid (S + R) dedifferentiation who received any TT after progression on ICT at an academic cancer center. Clinical endpoints of interest included time on TT, overall survival (OS) from initiation of TT, and objective response rate (ORR) by RECIST version 1.1. Multivariable models adjusted for …

Novel Loss-Of-Function Variants Expand Abcc9-Related Intellectual Disability And Myopathy Syndrome, Stephanie Efthymiou, Robert C Tryon, Colin G Nichols, Et Al.

2020-Current year OA Pubs

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels. Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle …

Evaluating The Heterogeneity Of Hippocampal Avoidant Whole Brain Radiotherapy Treatment Effect: A Secondary Analysis Of Nrg Cc001, Hua-Ren R Cherng, Kai Sun, Søren Bentzen, Terri S Armstrong, Vinai Gondi, Paul D Brown, Minesh Mehta, Mark V Mishra

Faculty, Staff and Student Publications

Background: Hippocampal avoidant whole brain radiotherapy (HA-WBRT) is the standard of care for patients needing WBRT for brain metastases. This study, using existing data from NRG Oncology CC001 including baseline tumor characteristics and patient-reported MD Anderson Symptom Inventory-Brain Tumor (MDASI-BT) scores, sought to identify subgroups of patients that demonstrate differential neuroprotective treatment response to HA-WBRT.

Methods: An exploratory analysis of NRG CC001, a phase 3 trial in which 518 patients were randomly assigned to WBRT plus memantine or HA-WBRT plus memantine, was performed. Rates of neurocognitive function failure (NCFF) were estimated between subgroups and stratified by arm. Covariate and subgroup …

Identifying Long-Term Survivors And Those At Higher Or Lower Risk Of Relapse Among Patients With Cytogenetically Normal Acute Myeloid Leukemia Using A High-Dimensional Mixture Cure Model, Kellie J Archer, Han Fu, Krzysztof Mrózek, Deedra Nicolet, Alice S Mims, Geoffrey L Uy, Wendy Stock, John C Byrd, Wolfgang Hiddemann, Jan Braess, Karsten Spiekermann, Klaus H Metzeler, Tobias Herold, Ann-Kathrin Eisfeld

2020-Current year OA Pubs

Patients with cytogenetically normal acute myeloid leukemia (CN-AML) may harbor prognostically relevant gene mutations and thus be categorized into one of the three 2022 European LeukemiaNet (ELN) genetic-risk groups. Nevertheless, there remains heterogeneity with respect to relapse-free survival (RFS) within these genetic-risk groups. Our training set included 306 adults on Alliance for Clinical Trials in Oncology studies with de novo CN-AML aged <  60 years who achieved a complete remission and for whom centrally reviewed cytogenetics, RNA-sequencing, and gene mutation data from diagnostic samples were available (Alliance trial A152010). To overcome deficiencies of the Cox proportional hazards model when long-term survivors are present, we developed a penalized semi-parametric mixture cure model (MCM) to predict RFS where RNA-sequencing data comprised the predictor space. To validate model performance, we employed an independent test set from the German Acute Myeloid Leukemia Cooperative Group (AMLCG) consisting of 40 de novo CN-AML patients aged <  60 years who achieved a complete remission and had RNA-sequencing of their pre-treatment sample. For the training set, there was a significant non-zero cure fraction (p = 0.019) with 28.5% of patients estimated to be cured. Our MCM included 112 genes associated with cure, or long-term RFS, and 87 genes associated with latency, or shorter-term time-to-relapse. The area under the curve and C-statistic were respectively, 0.947 and 0.783 for our training set and 0.837 and 0.718 for our test set. We identified a novel, prognostically relevant molecular signature in CN-AML, which allows identification of patient subgroups independent of 2022 ELN genetic-risk groups.Trial registration Data from companion studies CALGB 8461, 9665 and 20202 (trials registered at www.clinicaltrials.gov as, respectively, NCT00048958, NCT00899223, and NCT00900224) were obtained from Alliance for Clinical Trials in Oncology under data sharing study A152010. Data from the AMLCG 2008 trial was registered at www.clinicaltrials.gov as NCT01382147.

Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen

Faculty, Staff and Students Publications

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.

We collected detailed …

A Case Of Hhv-6 Viral Meningitis, Mohammad A. Rattu, Wayne Tamaska

Rowan-Virtua Research Day

Meningitis is the inflammation of the meninges and associated with abnormal cell count in the cerebrospinal fluid (CSF). The lack of bacterial growth in cultures, most commonly referred to as aseptic meningitis, is frequently caused by viruses [2]. Viruses have become more common as the prevalence of bacterial meningitis has decreased secondary to vaccination use, with viral meningitis being the most common form among countries. Viral meningitis will present with fever, headache, photophobia, neck stiffness and nausea and vomiting. Younger children however may not show any signs of meningeal irritation. Viral meningitis is usually self-limiting and with good prognosis; however, …

Health Disparities Among Adults With Disabilities, Kirsten Carlberg, Madison Plone, Chrismely Castro, Nayarith Lopez

Rowan-Virtua Research Day

Background: According to the Centers for Disease Control (CDC), 27% of adults in the United States (US) live with a disability. These disabilities are often accompanied by poorer health outcomes with adults with disabilities reporting higher rates of obesity, diabetes, and cardiovascular disease. This review aims to characterize rates of disability among young adults in Camden County, New Jersey.

Methods: Data was collected from the CDC and United States Census and analyzed using Microsoft Excel 365.

Results: In 2022, 9.7% of residents of Camden County aged 18-34 were reported as disabled while the rate was 8.3% of US residents nationwide. …

Case Report: Post-Obstructive Pneumonia Secondary To Foreign Body Aspiration, Aashna Chaudhry, Andrew Vasta

Rowan-Virtua Research Day

Post-obstructive pneumonia is described as a pulmonary infiltrate that occurs proximal to the site of an obstructed bronchus. Studies show that post-obstructive pneumonia most commonly secondary to obstruction caused by neoplasms. According to a study done on post obstructive pneumonia in lung cancer, most cases of post obstructive pneumonias are associated with advanced neoplasms with up to 50% of those with advanced cancer getting endobronchial compromise. While neoplasms are the most common cause of post obstructive pneumonia, research is scarce on other potential causes of post obstructive pneumonia. This case reports presents a unique clinical case in which an adult …

Examining The Differences In Functional Outcomes For Patients With Traumatic Brain Injury After Acute Rehabilitation And Subacute Rehabilitation: A Review Of The Literature, Michael Rangel, Ashley Kakkanatt

Rowan-Virtua Research Day

BACKGROUND/PURPOSE

Traumatic brain injury (TBI) is one of the major causes of morbidity in the US [1-4]. Studies suggest TBI patients’ enrollment in a rehabilitation program strongly predicts social reintegration. The structure and outcomes of inpatient rehabilitation programs, including acute and subacute rehabilitation, are not well-delineated [5-7].

DESIGN

A structured review of current literature was conducted. Articles were screened using the search string: (post-traumatic brain injury OR post-TBI OR traumatic brain injury OR TBI) AND (acute rehabilitation OR subacute rehabilitation) AND (outcomes OR functional outcomes) NOT (outpatient OR outpatient populations) NOT (pediatric OR pediatric populations). Articles were limited to 1990 …

Using Genome And Transcriptome Data From African-Ancestry Female Participants To Identify Putative Breast Cancer Susceptibility Genes, Jie Ping, Guochong Jia, Qiuyin Cai, Xingyi Guo, Ran Tao, Christine Ambrosone, Dezheng Huo, Stefan Ambs, Mollie E Barnard, Yu Chen, Montserrat Garcia-Closas, Jian Gu, Jennifer J Hu, Esther M John, Christopher I Li, Katherine Nathanson, Barbara Nemesure, Olufunmilayo I Olopade, Tuya Pal, Michael F Press, Maureen Sanderson, Dale P Sandler, Toshio Yoshimatsu, Prisca O Adejumo, Thomas Ahearn, Abenaa M Brewster, Anselm J M Hennis, Timothy Makumbi, Paul Ndom, Katie M O'Brien, Andrew F Olshan, Mojisola M Oluwasanu, Sonya Reid, Song Yao, Ebonee N Butler, Maosheng Huang, Atara Ntekim, Bingshan Li, Melissa A Troester, Julie R Palmer, Christopher A Haiman, Jirong Long, Wei Zheng

Faculty, Staff and Student Publications

African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3' UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls. At Bonferroni-corrected P < 0.05, we identified six genes associated with breast cancer risk, including four genes not previously reported (CTD-3080P12.3, EN1, LINC01956 and NUP210L). Most of these genes showed a stronger association with risk of estrogen-receptor (ER) negative or triple-negative than ER-positive breast cancer. We also replicated the associations with 29 genes reported in previous TWAS at P < 0.05 (one-sided), providing further support for an association of these genes with breast cancer risk. Our study sheds new light on the genetic basis of breast cancer and highlights the value of conducting research in AA populations.

Examining The Association Between Abstinence From Smoking And Healthcare Costs Among Patients With Cancer, George Kypriotakis, Seokhun Kim, Maher Karam-Hage, Jason D Robinson, Jennifer A Minnix, Janice A Blalock, Yong Cui, Diane Beneventi, Bumyang Kim, I-Wen Pan, Ya-Chen Tina Shih, Paul M Cinciripini

Faculty, Staff and Student Publications

Continuous tobacco use in cancer patients is linked to substantial healthcare costs due to increased risks and complications, whereas quitting smoking leads to improved treatment outcomes and cost reductions. Addressing the need for empirical evidence on the economic impact of smoking cessation, this study examined the association between smoking cessation and healthcare cost utilization among a sample of 930 cancer patients treated at The University of Texas MD Anderson Cancer Center’s Tobacco Research and Treatment Program (TRTP). Applying conditional quantile regression and propensity scores to address confounding, our findings revealed that abstinence achieved through the TRTP significantly reduced the median …

The Long Non-Coding Rna Gene C027288.3 Plays A Role In Human Endometrial Stromal Fibroblast Decidualization, Rupak Thapa, Kevin Marmo, Liang Ma, Donald S Torry, Brent M Bany

2020-Current year OA Pubs

During the secretory phase of the menstrual cycle, endometrial fibroblast cells begin to change into large epithelial-like cells called decidual cells in a process called decidualization. This differentiation continues more broadly in the endometrium and forms the decidual tissue during early pregnancy. The cells undergoing decidualization as well as the resulting decidual cells, support successful implantation and placentation during early pregnancy. This study was carried out to identify new potentially important long non-coding RNA (lncRNA) genes that may play a role in human endometrial stromal fibroblast cells (hESF) undergoing decidualization in vitro, and several were found. The expression of nine …