Digital Commons Network^™

Childcare Challenges Among Surgical Trainees And Faculty: A Single-Institution Study, Emma G Burke, Sarah Peiffer, Melissa Koci, Lindsay Dean, Kristy L Rialon, Michele Loor, Alice King

Faculty, Staff and Students Publications

Background: Previous studies have demonstrated the challenges of parenthood in surgical training and careers. However, certain aspects of childrearing for surgeons remain understudied. We aim to leftacterize the complexity and costs of childcare amongst surgical trainees and faculty.

Methods: An anonymous, self-administered survey was conducted within the Department of Surgery at a large academic medical center. Both male and female trainees and faculty were included in the analysis. Chi-square or Fisher's Exact test was performed.

Results: Forty-six respondents provided information about childcare costs, with 37% of respondents being residents or fellows. Trainees worked longer workhours (p = 0.003) than their …

Education Journey: A Phenomenological Investigation Of The Lived College Experiences For Black Women Ages 20–39, Marsha Natalie Tucker-Scott

Doctoral Dissertations and Projects

This phenomenological study focused on the lived college experiences of Black female students aged 20-39 in the New York Metropolitan area, drawing on Vygotsky’s sociocultural theory to examine how cultural context, social interaction, and community expectations shaped their academic engagement and development. Using in-depth interviews, focus groups, and journal prompts with ten participants from local communities and churches, the study found that race and social expectations exerted a more profound influence on participants’ academic journeys than gender or age. Their narratives affirmed the value of hermeneutic phenomenology and intersectionality in understanding Black women’s experiences in higher education, particularly as they …

Repurposing Semaglutide As An Adjunctive Treatment For Cocaine Use Disorder: Protocol For A Randomised Controlled Trial, Luba Yammine, Francesco Versace, Charles E Green, Heather E Webber, Jin Ho Yoon, Absalon D Gutierrez, Samuel J Leonard, Michael F Weaver, Joy Schmitz

Faculty, Staff and Student Publications

Introduction: Cocaine use disorder (CUD) is a significant public health concern in the USA, with considerable prevalence and mortality and no Food and Drug Administration (FDA)-approved pharmacotherapies. Recent advances in addiction science emphasise the need for novel, mechanism-based treatments. Glucagon-like peptide-1 receptor agonists, such as semaglutide, have shown promise in modulating reward-related behaviours and may offer therapeutic benefits for CUD. We present a study protocol evaluating semaglutide, as an adjunct to cognitive behavioural therapy (CBT), as a novel approach for treating CUD.

Methods and analysis: This is a randomised, double-blind, placebo-controlled trial enrolling 75 treatment-seeking adults with CUD. Participants will …

A Review Of Robotic Vnotes Surgery: Current Applications, Advantages, And Future Directions, Daniel Y Lovell, Qiannan Yang, Xiaoming Guan

Faculty, Staff and Students Publications

Over the past 500 years, the convergence of three distinct paths - vaginal surgery, laparoscopy, and robotic technologies - has enabled the development of robot-assisted vaginal natural orifice transluminal endoscopic surgery (RA-vNOTES). The ongoing evolution of vaginal surgery has led to contemporary procedures such as hysterectomy, myomectomy, sacrocolpopexy, adnexal interventions, and oncologic operations, applicable to a wide range of diagnoses and pathologies. This approach offers patients significant benefits, including superior cosmetic outcomes, less pain, lower infection rates, and faster recovery of baseline quality of life. Surgeons benefit from improved ergonomics, better visualization, the ability to use multiple instruments, and enhanced …

Sex-Biased Intratumoral Microbiome Influences Tumor Molecular And Immune Landscape And Disease Outcomes, Yuting Shan, Yingbo Huang, Adam Lee, Radwa M. Elmorsi, Tuyen Phan, Indrajit Chaudhury, Tom Corbiere, Lindsey B. Collins, Elizabeth B. Hirsch, Benjamin A. Weinberg, Jennifer M. Johnson, Emmanuel S. Antonarakis, Emil Lou, R. Stephanie Huang

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

The intratumoral microbiome is increasingly recognized as a regulator of cancer biology, yet sex-specific patterns and their relevance to cancer disparities remain poorly understood. We perform a multi-kingdom analysis of more than 5,000 tumors from seven datasets to identify sex-differential microbial taxa across aerodigestive and gastrointestinal cancers. We identify and validate 22 taxa with consistent sex-biased abundance, including in real-world cohort. These microbes show cancer-type- and microbe-specific associations with tumor transcriptomes, oncogenic pathways, and immune cell infiltration. Female-enriched microbes are linked to increased estrogen signaling and interferon responses, whereas male-enriched taxa show opposing patterns. In gastric cancer, intratumoral Epstein-Barr virus …

Association Of Polygenic Risk Scores With Aortic Valve Calcium: The Multi-Ethnic Study Of Atherosclerosis, Seamus P Whelton, Jie Yao, Clary Clish, Alexis C Wood, Kent D Taylor, Michael J Blaha, Matthew Budoff, Natalie Marrero, George Thanassoulis, Wendy S Post, Xiuqing Guo, Jerome I Rotter

Faculty, Staff and Students Publications

Background: Aortic valve calcification (AVC) is the primary process leading to aortic stenosis. We examined whether polygenic risk scores (PRS) are associated with AVC beyond traditional atherosclerotic cardiovascular disease risk factors.

Methods: We included 6812 participants in MESA (Multi-Ethnic Study of Atherosclerosis) with computed tomography-measured AVC at Visit 1. Using previously published PRS we calculated weighted PRS, standardized within each ancestry group. The cross-sectional association per 1 SD higher PRS with AVC >0 was examined using multivariable logistic regression modeling with Bonferroni correction. The mean age was 62 years old, 53% were female, and 913 (13.4%) had AVC >0 at …

Deep-Learning Endomicroscope With Large Field-Of-View And Depth-Of-Field For Real-Time In Vivo Imaging Of Epithelial Cancer Hallmarks, Huayu Hou, Jimin Wu, Jinyun Liu, Vivek Boominathan, Argaja Shende, Karthik Goli, Jennifer Carns, Richard A Schwarz, Ann M Gillenwater, Preetha Ramalingam, Mila P Salcedo, Kathleen M Schmeler, Tomasz S Tkaczyk, Jacob T Robinson, Ashok Veeraraghavan, Rebecca R Richards-Kortum

Faculty, Staff and Students Publications

In vivo microscopy (IVM) has shown great promise to improve early detection of epithelial precancer, but it suffers from fundamental trade-offs that limit the resolution, field-of-view (FOV) and depth-of-field (DOF). Here, we present PrecisionView, a compact, deep learning-enabled endomicroscope that breaks these constraints and achieves 20 mm2 FOV and 500 µm DOF with 4 µm resolution, representing approximately 5× increase in FOV and 8× larger DOF compared to conventional IVM with similar resolution. PrecisionView integrates a deep learning-optimized phase mask and real-time reconstruction, enabling rapid in vivo assessment of two key hallmarks of cancer: epithelial cell nuclear morphology and subsurface …

Investigating Racial Differences In The Receipt Of Antenatal Interventions Prior To Periviable Delivery, Niurka Monteserin, Whitney Bender

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: The Society for Maternal Fetal Medicine (SMFM) provides guidance on the use of antenatal corticosteroids, antibiotics, and cesarean delivery in the periviable period. Although racial differences exist in postnatal active management of periviable neonates have been described, less is known about racial differences in antenatal interventions preceding delivery.

OBJECTIVE: To evaluate differences in the receipt of antenatal interventions before periviable delivery by birthing parent race.

METHODS:  We conducted a population-based cohort study using the National Center for Health Statistics database including periviable deliveries (20w0d-25w6d) from 2016-2021. Individuals delivering a non-anomalous live singleton gestation in a hospital were included. Births …

Pneumomlpred: Innovating Pneumonia Management With Guideline Adherence Review And Explainable Machine Learning-Based Mortality Prediction - A Single-Centre Retrospective Study, Kamel A. Samara, Hiba Jawdat Barqawi, Saryia Adra, Batool Aldaher, Drishti D. Kampani, Enad Haddad, Hebah Soudan, Islam Ibrahim Anwar, Mohamad Besher Adi, Omar Hamadi, Yumna Almour, Mohamed Nassef, Zaher Al Aghbari, Eman Abu-Gharbieh

Abington Jefferson Health Papers

Introduction: Community-acquired pneumonia (CAP) is one of the leading causes of death globally. Changing antibiotic resistance profiles, paucity of reliable CAP mortality prediction models, and ageing populations will increase its burden. This study aims to evaluate adherence to CAP management guidelines as well as develop an ML-based mortality prediction model.

Methods: This retrospective, chart review included all CAP cases between 2016 and 2021. Variables collected included patients' demographics, comorbidities, vitals, laboratory, imaging, and culture findings, as well as initial and targeted antibiotic regimens. Data was pre-processed and analysed in python-3. Adherence to the American thoracic society/infectious diseases society of America …

Urobiome Composition Varies With Vesicoureteral Reflux Grade And History Of Febrile Urinary Tract Infection, Theresa C. Barrett, Kelvin Li, Adam Fitch, Asha Patel, Bhanu Sharma, Jacqueline Holden, Kermina Abdelsayed, Nina N. Kowalewski, Sridhar Narla, Daniel Bushnell, Barbara A. Methé, Catherine S. Forster

Department of Medicine Faculty Papers

Vesicoureteral reflux (VUR) is a risk factor for urinary tract infection (UTI). However, data describing the urobiome in children with VUR are limited. Here, we characterized the urobiome in children with and without VUR to better understand its potential role in VUR pathogenesis. Catheterized urine samples were obtained from children who presented for voiding cystourethrogram (VCUG) between 12/1/2020 and 10/3/2023. Children were excluded if they had any surgical procedures of the genitourinary tract in the 30 days prior to VCUG or were on treatment antibiotics at the time of VCUG. 16S rRNA gene sequencing and taxonomical classification identified the urobiome. …

Vaccination-Related Applications And Health Care Professionals' Observed Changes In Human Papillomavirus Vaccine Hesitancy: Cross-Sectional Survey, Manali Desai, Shreela Sharma, Joel Fokom-Domgue, Robert Yu, Wenyaw Chan, Onyema G Chido-Amajuoyi, Charles Darkoh, Sanjay Shete

Faculty, Staff and Student Publications

Background: Digital tools are known to promote public health interventions such as vaccine delivery. The recommendation that health care professionals (HCPs) use vaccination-related mobile apps or web-based applications has contributed to improving vaccine awareness and acceptance in the United States. The state of Texas, which has one of the lowest human papillomavirus (HPV) vaccination rates, has seen a significant increase in HPV vaccine hesitancy, particularly during the COVID-19 pandemic.

Objective: This study aimed to examine the association between changes in HPV vaccine hesitancy observed by HCPs among patients in Texas and promotion of vaccination-related applications at the health care facilities …

Leveraging Multimodal Large Language Models For Fall Risk Reduction In Older Adults In The Home: Proposed Model Design, Justin Do, Vivaswat Suresh, Lily Zhang, Bharvi M. Chavre, Jeremy Cha, Robert S. Pugliese

SKMC Student Presentations and Publications

This research letter proposes a novel model design leveraging natively multimodal large language models to identify fall risks and generate visualizations of recommended home environmental modifications, aiming to improve the accessibility and impact of personalized fall prevention advice for older adults. Through a pilot rating study, this work demonstrates that multimodal large language models can generate safe and actionable advice to reduce fall risk in lived spaces of older adults, and also generate realistic edits based on original images. While this concept needs further testing and clinical comparison, it highlights a promising avenue for further innovation of fall prevention tactics.

A Survey Of Health Professions Learners’ Attitudes Towards Social Media In Medical Education: A Substance Use Disorders Education Case Study, Gregory A. Jaffe, Sarah Lawson, William Leach, Mallika Kodavatiganti, Erin Avanzato, Katherine Fesperman, Heather Klusaritz

Department of Family & Community Medicine Faculty Papers

BACKGROUND: Social media is a ubiquitous part of the modern world and plays a key role in the dissemination of information. While utilizing social media for educational purposes has been repeatedly demonstrated as feasible, it has been underutilized in medical education and remains a critical opportunity to integrate microlearning and stigma reduction curricula.

METHODS: A cross-sectional survey on social media usage, attitudes, and beliefs was sent to medical and nursing students at two large academic institutions within Philadelphia. Descriptive statistics are reported, and non-parametric tests were utilized for exploratory analyses.

RESULTS: Health learners were low consumers of social media, reporting …

Multi-Grader Validation Of The Telemedicine Retinopathy Of Prematurity Severity Score, Harrison W. Pratt, Sarthak V. Shah, Cindy S. Zhao, Arthur R. Brant, Caroline R. Baumal, Cagri G. Besirli, Audina M. Berrocal, Kimberley A. Drenser, Anna L. Ells, Clio Armitage Harper, G. Baker Hubbard, Eric D. Nudleman, Polly Quiram, Irena Tsui, Edward Wood, Yoshihiro Yonekawa, Tatiana Rosenblatt, Jochen Kumm, Darius M. Moshfeghi

Wills Eye Hospital Papers

We aimed to statefully validate Retinopathy of Prematurity (ROP) grading by evaluating intergrader variability over age-matched simulated exams. In a prospective retinal photographic grading cohort study, both eyes of twenty patients with five images per eye per visit were graded by twelve expert graders across six weekly visits. For each eye visit, ROP experts graded the Zone, Stage, and Plus, from which the Telemedicine ROP Severity Score (tROP-SS) was calculated. Graders retained knowledge of prior assessments for a given eye and followed International Classification of ROP rules. Intergrader coefficient of variation (CoV) for Zone, Stage, Plus, and tROP-SS remained below …

Smart Pediatric Oncology Tracker Of Symptoms (Spots), A Web-Based Interface For The Pediatric Pro-Ctcae: Development And Usability Study, Stacey Crane, Deevakar Rogith, Melody Hellsten, Andrew D Miller, Jacqueline Castillo, Brandy Boeger, Susan Vidaurre, Stefanie Pieper, Cecile Nguyen, Duc Anh Thanh Huynh, Jessica Wooden, Amy Franklin, Karen Moody, Wenyaw Chan, Pamela S Hinds, Constance Johnson

Faculty, Staff and Student Publications

Background: Children undergoing cancer treatment experience a range of treatment-related toxicities that significantly affect quality of life and adherence to therapy. Current methods for symptom reporting rely heavily on clinician interpretation of caregiver or child verbal reports, which can result in incomplete or inaccurate records. The Pediatric Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (Pediatric PRO-CTCAE; National Cancer Institute) provides a validated mechanism for direct symptom reporting by children and caregivers, yet its traditional administration and preselection of questions limit the breadth of symptom capture.

Objective: This research aimed to co-design and conduct formative usability testing …

Postapproval Study For Brain-Responsive Neurostimulation For Drug-Resistant Focal Epilepsy: Three-Year Efficacy And Interim Safety Results, Dawn Eliashiv, Vikram R Rao, Barbara C Jobst, Jerzy P Szaflarski, John D Rolston, Lesley C Kaye, Taneeta Mindy Ganguly, Katie Bullinger, Patricia C Dugan, David E Burdette, Angela Y Peters, Atif Sheikh, Kevin F Haas, Dileep R Nair, Lilit Mnatsakanyan, Imran H Quraishi, Meriem K Bensalem-Owen, Rns System Pas Study, Michael J Doherty, Babak Razavi, Tiffany L Fisher, Christopher Skidmore, Pradeep N Modur, Tawnya M Constantino, Vicenta Salanova, Andrew J Cole, Olga Taraschenko, Angelica Rivera-Cruz, James W Wheless, Nitin Tandon, Antoaneta Balabanov, Sami Aboumatar, Itzhak Fried, Cornelia Drees, Hae Won Shin, Zeenat Jaisani, Stephanie E Maciver, Sanjay E Patra, Edward F Chang, Jon T Willie, Ryder Gwinn, Travis Stoub, John M Stern, Tami Crabtree, Cairn G Seale, Sharon C Mcfadden, Jacob F Norman, Lise Johnson, Martha J Morrell

Faculty, Staff and Student Publications

Background and objectives: Neuromodulation therapies are approved for the treatment of focal epilepsy based on data from randomized controlled trials (RCTs). After approval of a responsive direct brain stimulation device (The RNS System for focal epilepsy), the Food and Drug Administration required a prospective study to evaluate whether real-world safety and effectiveness differed from outcomes in the RCT.

Methods: This open-labeled study enrolled adult participants who met the RNS System-approved indication for use. The primary effectiveness end point was median percent change in seizure frequency at 3 years of treatment. Interim safety is presented; the primary safety endpoint analysis will …

Postapproval Study For Brain-Responsive Neurostimulation For Drug-Resistant Focal Epilepsy: Three-Year Efficacy And Interim Safety Results, Dawn Eliashiv, Vikram R. Rao, Barbara C. Jobst, Jerzy P. Szaflarski, John D. Rolston, Lesley C. Kaye, Taneeta Mindy Ganguly, Katie Bullinger, Patricia C. Dugan, David E. Burdette, Angela Y. Peters, Atif Sheikh, Kevin F. Haas, Dileep R. Nair, Lilit Mnatsakanyan, Imran H. Quraishi, Meriem K. Bensalem-Owen, Michael J. Doherty, Babak Razavi, Tiffany L. Fisher, Christopher T. Skidmore, Pradeep N. Modur, Tawnya M. Constantino, Vicenta Salanova, Andrew J. Cole, Olga Taraschenko, Angelica Rivera-Cruz, James W. Wheless, Nitin Tandon, Antoaneta Balabanov, Sami Aboumatar, Itzhak Fried, Cornelia Drees, Hae Won Shin, Zeenat Jaisani, Stephanie E. Maciver, Sanjay E. Patra, Edward F. Chang, Jon T. Willie, Ryder Gwinn, Travis Stoub, John M. Stern, Tami Crabtree, Cairn G. Seale, Sharon C. Mcfadden, Jacob F. Norman, Lise Johnson, Martha J. Morrell

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: Neuromodulation therapies are approved for the treatment of focal epilepsy based on data from randomized controlled trials (RCTs). After approval of a responsive direct brain stimulation device (The RNS System for focal epilepsy), the Food and Drug Administration required a prospective study to evaluate whether real-world safety and effectiveness differed from outcomes in the RCT.

METHODS: This open-labeled study enrolled adult participants who met the RNS System-approved indication for use. The primary effectiveness end point was median percent change in seizure frequency at 3 years of treatment. Interim safety is presented; the primary safety endpoint analysis will …

Natural History Of Ngly1 Deficiency: Motor Function & Clinical Features, Grace Morrison, Selina Dwight, Hal Landy, William F Mueller, Pam Ventola, Regina Deck, Becky Schweighardt, Matt Wilsey, Kevin J Lee, Bernhard Suter

Faculty, Staff and Students Publications

N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected patient population. Its core clinical features include global developmental delay, hyperkinetic movement disorders, elevation of liver transaminases, (hypo)alacrima, and progressive sensorimotor neuropathy. Due to the range of phenotypes and severity within the confirmed patient population, ongoing characterization of the disease is critical. A prospective natural history study (NHS) was conducted to further elucidate disease phenotypes and examine any changes in neurocognitive or motor function over a one-year period. Fifteen …

Risk Of Late Recurrence Of Colorectal And Breast Cancer Among Older Long-Term Cancer Survivors., Faiza Yasin, Sarah J. Westvold, Jessica B. Long, Terry Hyslop, Michael Cecchini, Ira Leeds, Andrea Silber, Shi-Yi Wang, Lisa Spees, Rebecca Forman, Tendai Kwaramba, Melissa Taylor, Cary P. Gross, Michaela A. Dinan

Kimmel Cancer Center Papers, Presentations, and Grand Rounds

BACKGROUND: A growing population of older adult cancer survivors faces competing cancer and noncancer health risks. There are limited real-world data on recurrence patterns beyond 5 years post-treatment.

METHODS: This was a SEER-Medicare retrospective cohort study of patients aged ≥66 with stage I-III breast, colon, or rectal cancer who received definitive surgery and survived ≥5 years from diagnosis without recurrence or second primary malignancy. Late recurrence (5-10 years postdiagnosis) was identified using a validated algorithm to detect treated recurrence in Medicare claims. Demographic and clinical characteristics collected at cancer diagnosis were assessed as predictors of late treated recurrence using restricted …

Inflammatory Markers In The Emergency Department And Ptsd Symptoms In The Aurora Study: A Longitudinal Cohort Study, Kristen Nishimi, Sarah Linnstaedt, Thomas Neylan, Lauren Mckibben, Liz Marie Albertorio-Sáez, Ying Zhao, Stacey House, Francesca Beaudoin, Xinming An, Jennifer Stevens, Gari Clifford, Tanja Jovanovic, Laura Germine, Scott Rauch, John Haran, Alan Storrow, Paul Musey, Phyllis Hendry, Sophia Sheikh, Brittany Punches, Robert Swor, Jose Pascual, Mark Seamon, Elizabeth M Datner, Claire Pearson, David Peak, Roland Merchant, Robert Domeier, Niels Rathlev, Brian O'Neil, Paulina Sergot, Leon Sanchez, Steven Bruce, Steven Harte, Ronald Kessler, Karestan Koenen, Kerry Ressler, Samuel Mclean, Aoife O'Donovan

Department of Emergency Medicine Faculty Papers

BACKGROUND: Systemic inflammation is hypothesized to contribute to post-traumatic stress disorder (PTSD) vulnerability. Few studies have examined inflammation shortly after trauma as a predictor of later PTSD symptoms. We examined whether inflammation from the emergency department (ED) post-trauma is associated with PTSD symptom severity over the following 6 months.

METHODS: Our sample included 742 AURORA participants, a longitudinal cohort of patients in 29 EDs across the United States after a traumatic stressor, followed up to 6 months. Plasma cytokines were assessed from a study blood draw in the ED: an inflammatory index (standardized sum of generally pro-inflammatory markers interleukin [IL]-6, …

Nudging Implementation Of Low Tidal Volume Ventilation: A Stepped Wedge, Cluster Randomized Trial, Meeta Prasad Kerlin, Michael O. Harhay, Fan Li, Dylan S. Small, Yingying Lu, Wei Wang, Barry D. Fuchs, Mark E. Mikkelsen, Teresa Tran, Aerielle Belk, Jasmine A. Silvestri, Tamar Klaiman, Stefania Scott, Elizabeth Levy, Michael W. Sjoding, Rachel Kohn, Karsten J. Roberts, Rinad S. Beidas, Scott D. Halpern

College of Health Professions Faculty Papers

BACKGROUND: "Nudges" embedded in the electronic health record (EHR) facilitate desired decisions while preserving autonomy and may provide a scalable strategy to overcome the common implementation barrier of lack of knowledge about a best practice. We sought to test whether EHR-based nudges targeting two intensive care unit (ICU) clinician groups would safely increase evidence-based use of low tidal volume ventilation.

METHODS: We performed a stepped-wedge, cluster randomized, hybrid type 3 effectiveness-implementation trial in 12 ICUs from February 2021 to May 2023 to test three nudges targeting clinicians responsible for order entry and respiratory therapists responsible for operationalizing orders and documentation. …

Systemic Α₂-Agonist Use And Lower Hazard Of Glaucoma Compared With Β-Blockers: A Cohort Study, Ibrahim Abboud, Amin Z. Khudari, Abdelaziz Abdelaal, Amr Almobayed, Subhi J. Al'aref, Jonathan S. Myers, Richard K. Lee, Abdelrahman M. Elhusseiny

Wills Eye Hospital Papers

OBJECTIVE: Systemic antihypertensive medications may influence glaucoma-related outcomes through intraocular pressure-dependent and vascular mechanisms. While topical α₂-agonists are established glaucoma therapies, the association between systemic α₂-agonists and glaucoma hazard remains unexamined; we compared their hazard with systemic β-blockers in adults with hypertension.

METHODS AND ANALYSIS: We conducted a multicentre retrospective cohort study using deidentified electronic health records. Adults aged ≥40 years with hypertension and chronic exposure to systemic α₂-agonists or β-blockers were included. Patients with pre-existing ocular hypertension (OHT), primary open-angle glaucoma (POAG), concomitant comparator use, or inadequate ophthalmic follow-up were excluded. We balanced cohorts using propensity score matching (PSM) …

Pharmacogenomic-Guided Prescribing And Polypharmacy Across Age Groups In Obsessive-Compulsive Disorder: A Retrospective Study, Sheldon R Garrison, Matthew W Boyer, Anthony W Zoghbi, Rachel A Schwartz, Nicolette Weisensel, Martin E Franklin, Madeline M Hartig, Maharaj Singh, Sreya Vadapalli

Faculty, Staff and Students Publications

Background: This study evaluated medication utilization in children, adolescents, and adults with obsessive-compulsive disorder (OCD), a chronic psychiatric condition characterized by intrusive thoughts and repetitive behaviors. Although first-line treatments include selective serotonin reuptake inhibitors (SSRIs) and cognitive behavioral therapy (CBT), the heterogeneous biological underpinnings contribute to suboptimal outcomes, with 40-60% of individuals not responding to SSRIs. This complex phenotype often leads to psychotropic polypharmacy, which may be mitigated by incorporating combinatorial pharmacogenomic (PGx) testing into protocol-based care to identify potential gene-drug interactions.

Methods: A retrospective review was conducted of individuals with OCD aged 8 to 65 years who received either …

Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler

Duncan NRI Faculty and Staff Publications

X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, while other patients, including adult males and most affected female carriers, experience a chronic progressive myelopathy. Adrenocortical failure is observed in almost all male patients, with the age of onset varying, sometimes being the first diagnostic finding. The gene underlying this spectrum of disease encodes an ATP-binding cassette (ABC) transporter that …

Large-Scale Genetic Characterization Of Parkinson’S Disease In The African And African Admixed Populations, Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J Koretsky, Paula Saffie-Awad, Charles Achoru, Funmilola Taiwo, Simon Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer Grant, Lukman Owolabi, Chiamaka Okereke, Olajumoke Oshinaike, Emmanuel Iwuozo, Suleyman Can Akerman, Paul Suhwan Lee, Shyngle Oyakhire, Nosakhare Osemwegie, Kensuke Daida, Sani Abubakar, Adedunni Olusanya, Mariam Isayan, Christiane Alvarez, Rami Traurig, Adebimpe Ogunmodede, Sarah Samuel, Mary B Makarious, Fadimatu Sa'ad, Rashidat Olanigan, Kristin Levine, Ewere Marie Ogbimi, Dan Vitale, Francis Odiase, Francis Ojini, Olanike Odeniyi, Zih-Hua Fang, Nkechi Obianozie, Deborah A Hall, Ernest Nwazor, Tao Xie, Francesca Nwaokorie, Mahesh Padmanaban, Paul Nwani, Ejaz A Shamim, Alero Nnama, David Standaert, Morenikeji Komolafe, Marissa Dean, Godwin Osaigbovo, Elizabeth Disbrow, Ismaila Ishola, Ashley Rawls, Frank Imarhiagbe, Shivika Chandra, Cyril Erameh, Vanessa Hinson, Naomi Louie, Ahmed Idowu, J Solle, Scott A Norris, Abdullahi Ibrahim, Camilla Kilbane, Gauthaman Sukumar, Lisa M Shulman, Daniel Ezuduemoih, Julia Staisch, Sarah Breaux, Clifton Dalgard, Erin R Foster, Abiodun Bello, Andrew Ameri, Raquel Real, Erica Ikwenu, Huw R Morris, Roosevelt Anyanwu, Erin Furr Stimming, Kimberley Billingsley, Wemimo Alaofin, Pilar Alvarez Jerez, Osigwe Agabi, Dena G Hernandez, Rufus Akinyemi, Sampath Arepalli, Laksh Malik, Raymond Owolabi, Yakub Nyandaiti, Hampton L Leonard, Kolawole Wahab, Oladunni Abiodun, Carlos F Hernandez, Fatima Abdulai, Hirotaka Iwaki, Soraya Bardien, Christine Klein, John Hardy, Henry Houlden, Kamalini Ghosh Galvelis, Mike A Nalls, Nabila Dahodwala, Whitley Aamodt, Emily Hill, Alberto Espay, Stewart Factor, Chantale Branson, Cornelis Blauwendraat, Andrew B Singleton, Oluwadamilola Ojo, Lana M Chahine, Njideka Okubadejo, Sara Bandres-Ciga

Faculty, Staff and Student Publications

Elucidating the genetic contributions to Parkinson's disease aetiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11 827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among patients with Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 …

Apathy, Effort-Based Decisions And Brain Integrity In Alzheimer’S And Parkinson’S Diseases, Lee-Anne Morris, Hideo Suzuki, Seonjoo Lee, Zekai Jin, Bryan B Chen, Ana Marin, Edward D Huey, Yunglin Gazes, Sarah R Heilbronner, Campbell J Le Heron, Nora Vanegas-Arroyave

Faculty, Staff and Students Publications

Apathy, or loss of motivation, is a prominent syndrome accompanying both Alzheimer's and Parkinson's diseases, in addition to other disorders. One approach to understanding motivational loss is to examine the processes underlying goal-directed behaviour. Weighing up rewarding outcomes against the effort costs required to obtain them (effort-based decision-making) is a core computation when deciding to act for outcomes. Although a growing body of evidence points to disruption of this computation in people with apathy, which underlying decision parameters drive this disruption, their neural associations and whether these would generalize or differ across brain disorders have not been examined. People with …

Randomised Controlled Trial Comparing Antibiotic Cement Bead Pouch Versus Negative Pressure Wound Therapy For The Management Of Severe Open Tibia Fracture Wounds: Beads Versus Vac (Bvv) Protocol, Lucas S Marchand, Gerard Slobogean, Nathan N O'Hara, Anthony D Harris, David W Grainger, Lehana Thabane, Mohit Bhandari, Gregory J Della Rocca, Patrick J Kellam, Robert D Zura, Debra Marvel, Jeffrey L Wells, I Leah Gitajn, Kyle J Jeray, Robert V O'Toole, Zachary M Working, Roman M Natoli, Patrick F Bergin, Jennifer E Hagen, Ashley E Levack, Ernesto Guerra-Farfan, Gregory M Schrank, Joan N Hebden, Franca Mossuto, Cassandra Tsoutsounakis, David Pogorzelski, Hailey Pineda, Sofia Bzovsky, Sheila Sprague, Bvv Investigators

Faculty, Staff and Student Publications

Introduction: Early open fracture management aims to minimise the risk of complications. For the most severe open fracture wounds, multiple irrigation and debridement surgeries are required to overcome severe wound contamination, to reassess the evolving tissue injury or to temporise and plan further surgery. When multiple irrigation and debridement surgeries are needed, uncertainty remains about how the open fracture wound should be managed to best minimise complications. The primary aim of this trial is to compare the antibiotic cement bead pouch vs negative pressure wound therapy in the management of patients with severe open tibia fracture wounds.

Methods and analysis: …

Experiences Of Discrimination, Paternal Support, And Hypertensive Disorders Of Pregnancy (Hdp) In The Miehr Study, Houston, Texas, Tahereh Alinia, Elaine Symanski, Juan Manuel Alvarez, Kristina Walker Whitworth

Faculty, Staff and Students Publications

Background: Discrimination is a psychosocial stressor that, through activation of stress-response pathways, may influence risk of adverse perinatal health outcomes. However, few studies have evaluated the association between discrimination and hypertensive disorders of pregnancy (HDP), and none have explored effect modification by race or paternal support, which may buffer the adverse effects of discrimination.

Methods: We included 1,847 non-Hispanic Black and White participants from the Maternal and Infant Environmental Health Riskscape (MIEHR) study. Krieger's validated Experiences of Discrimination (EOD) scale was used to assess occurrence (yes/no) and frequency (once, 2-3, ≥ 4 times) of discrimination in nine situations. We created …

Clinical And Demographic Characteristics Of Hospitalized Patients With Xylazine-Related Wounds, Elizabeth Novick, Nikhil Seval, Dagan Coppock, Mollie Tucker, Daniel Taupin, John Zurlo, Carolyn Kramer

Department of Medicine Faculty Papers

OBJECTIVES: Little is known about the demographic and clinical features of patients with xylazine-related wounds. We sought to characterize hospitalized patients with substance use disorder (SUD) and xylazine-related wounds seen for infectious diseases consultation.

METHODS: We retrospectively reviewed the medical records of 193 patients diagnosed with SUD at 3 Philadelphia hospitals between October 2023 and January 2024. Patients were identified as either being diagnosed with (n=73) or without (n=120) xylazine-related wounds. We compared the demographic and clinical features between the 2 groups.

RESULTS: Patients diagnosed with wounds were younger ( P < 0.001), more likely to be White or Hispanic and less likely to be Black/AA ( P < 0.001), more likely to have tested positive for fentanyl ( P < 0.001), amphetamines ( P < 0.001), and cocaine ( P 0.001), more likely to acknowledge injection ( P < 0.001), and more likely to leave the hospital by patient-directed discharge (PDD) ( P < 0.001). Most patients had multiple wounds (75%), and more than half (53%) had at least one wound greater than 10 cm at its widest dimension. Although most patients diagnosed with wounds received antibiotics, many did not have symptoms or signs of infection.

CONCLUSIONS: Xylazine-related wounds are highly associated with illicitly manufactured …

Leading With Hope: A Clinical Communication Campaign To Promote Partner Hiv Testing In Assisted Partner Notification And Antenatal Care Programs In Uganda., Emily A. Hurley, Violet Gwokyala, Linda Kisaakye Nabitaka, Jolly Beyeza Kashesya, Mercylynn Agasha, Florence Namaganda, Nikolaus Schuetz, J Nalubega Ross, Joseph K B Matovu, Rhoda Wanyenze, Glenn Wagner, Kathy Goggin

Manuscripts, Articles, Book Chapters and Other Papers

Among heterosexual couples in sub-Saharan Africa, fears of relationship dissolution and inability to bear healthy children following an HIV-positive result remain barriers to HIV testing. Recently expanded availability of pre-exposure prophylaxis (PrEP) affords a critical opportunity to promote HIV testing with reassuring communication that highlights use for relationship preservation and healthy childbearing. We aimed to develop a theoretically-grounded communication intervention to promote partner HIV testing within assisted partner notification (APN) and antenatal care (ANC) programs in Uganda. Through an 18-month iterative co-creation process, we developed the HOPE Clinical Communication Campaign (HOPE-CCC) in collaboration with a project advisory board (PAB) of …