Digital Commons Network^™

Conceptualizing Osteopathic Medical Professionalism: An Institutional Self-Assessment Rubric For Colleges Of Osteopathic Medicine., Regina K Fleming, Anne C Jones, Matthew Shelnutt, Tony A Slieman, Stephanie White, Bruce R Williams

PCOM Scholarly Works

CONTEXT: Professionalism in medicine has been historically difficult to define, teach, assess, and remediate. While professionalism is vital to the practice of medicine, the lack of consistency across training and disciplines, combined with the often generalized nature of its description, has caused challenges in academic medicine and has led to the weaponization of its use. It is clear that change in this essential competency in medicine is needed, and change has to begin with an honest self-assessment.

OBJECTIVES: The purpose of this report is to present an evidence-based rubric for the assessment of professionalism at the institutional level. The literature …

Targeting Cardiomyocyte-Derived Extracellular Vesicle Mir-574-5p Protects Against Cognitive Impairment Induced By Ischemia-Reperfusion, Erya Chen, Xiaoyu Zhu, Haiqing Chang, Qi Li, Zhenkun Zhao, Changteng Zhang, Yu Cao, Yajing Wang, Xinliang Ma, Tao Zhu, Shu Zhang, Lu Gan, Jin Liu, Chan Chen

Department of Emergency Medicine Faculty Papers

BACKGROUND:  Acute myocardial ischemia/reperfusion (MI/R) increases risk for cognitive decline, yet the underlying mechanisms mediating heart-brain communication remain poorly understood. Small extracellular vesicles (sEVs) have emerged as novel long-range signaling mediators and may play a critical role.

METHODS: MI/R was induced by transient ligation of the left anterior descending artery. Cognitive performance was assessed using multiple behavioral tests. sEVs derived from cardiomyocytes were labeled to track their distribution and cellular uptake in the brain. Heart and brain tissues were analyzed for microRNAs (miRNAs) expression using bioinformatics, qPCR, and RNAScope. The role of specific miRNAs was investigated through genetic inhibition of …

Fibrinogen-Bmal1 Signaling As A Therapeutic Target To Limit Aortic Dissection By Preserving Vsmc Contractility, Xiaohan Zhong, Dongjie Li, Yuanfei Zhao, Lu Dai, Jinzhang Li, Zhiqi Ji, Bojing Zuo, Hongshan Liu, Haixia Huang, Wei Wang, Haiyang Li, Yuyong Liu, Ming Gong, Xin-Liang Ma, Wenjian Jiang, Meili Wang, Hongjia Zhang

Department of Emergency Medicine Faculty Papers

Aortic dissection (AD) is a life-threatening vascular disease with a high mortality rate. Surgery is essential in the acute phase but carries significant risks, whereas elective surgery during the chronic phase yields better outcomes. However, no pharmacological therapy has been proven effective in slowing AD progression. In our recent pilot clinical study, an association between higher plasma fibrinogen levels and improved clinical outcomes was observed in AD patients, suggesting a potential protective role of fibrinogen. However, direct evidence supporting this hypothesis is lacking. In this study, a population-based analysis of nonsurgically managed patients with acute AD revealed a distinct association: …

Neurobiological Pathways Underlying Brain Tumor Progression: Basis For Oncogenicity And Opportunities For Immunotherapeutic Intervention, Carrie E. Andrews, Jenny Zilberberg, Raul Perez-Olle, David Andrews, Mark A. Exley

Department of Neurosurgery Faculty Papers

Both primary and metastatic brain tumors rely on signals from the surrounding environment for their survival and progression. In particular, the most common and lethal brain cancer, glioblastoma (GBM), derived from glial cells (astrocytes or microglia), has been shown to integrate into synaptic networks and to receive paracrine signals from neighbouring tumor microenvironment (TME) cells. There is increasing evidence that metastatic disease in the brain exhibits similar behavior. The TME both maintains malignant cells and is maintained by them, a process that relies on cancer stem cells (CSCs). These stem cells and their signaling mechanisms, including in the case of …

Immunotherapy Of Tsa-1.C4 Or In Combination With Bnz Confers Protection Against Trypanosoma Cruzi Infection With A Distinct Cytokine Response, Landy Magaly Pech-Pisté, Victor Dzul-Huchim, Christian Florian Teh-Poot, Fabian Gusovsky, Kathryn Jones, Peter Hotez, Liliana Estefanía Villanueva-Lizama, Maria Elena Bottazzi, Jaime Ortega-Lopez, Julio Vladimir Cruz-Chan

Faculty, Staff and Students Publications

Chagas disease is a poverty-related neglected tropical disease caused by the protozoan Trypanosoma cruzi affecting approximately 6.3 million people, predominantly in the Americas. Approximately 30% of T. cruzi infections progress to chronic cardiomyopathy and 10% of these cases end in death from cardiac failure. The first-line drug Benznidazole (BNZ) require a prolonged treatment regimen and can be highly toxic. Here, we evaluate a therapeutic vaccine in T. cruzi-infected mice, based on the recombinant Trypomastigote Surface Antigen 1 (TSA-1.C4) protein and the emulsified adjuvant E6020, and in combination with a suboptimal dose of BNZ. We observed a reduced burden parasite in …

Self-Clustering Of Three Cbx2 Molecules Drives Prc2 To Promote Facultative Heterochromatinization Of Polycomb Target Genes, Steven Ingersoll, Abby Trouth, J Carlos Angel, Xinlong Luo, Axel Espinoza, Joey Wen, Chengjie Zhu, Joseph Tucker, Kalkidan Astatike, Christopher J Phiel, Hatim Sabaawy, Tatiana G Kutateladze, Tao P Wu, Tingting Yao, Chao Lu, Srinivas Ramachandran, Xiaojun Ren

Faculty, Staff and Students Publications

Phase separation is increasingly recognized in facultative heterochromatinization of Polycomb target genes; however, the mechanisms underlying this process remain obscure. Using single-molecule imaging and tracking, we show that individual condensates in mouse embryonic stem cells (mESCs) contain approximately 3 CBX2 molecules and numerous Polycomb repressive complex (PRC)1 and PRC2 subunits and indicate that the composition and dynamics of condensates are developmentally regulated. We reveal that CBX2 clusters PRC2 and controls the spatial distribution of both PRC2 and H3K27me3. Using genomic approaches, we demonstrate that CBX2 binds to condensate initiation sites, which are enriched for PRC2 nucleation sites. CBX2 deletion causes …

Immunotherapy Of Tsa-1.C4 Or In Combination With Bnz Confers Protection Against Trypanosoma Cruzi Infection With A Distinct Cytokine Response, Landy Magaly Pech-Pisté, Victor Dzul-Huchim, Christian Florian Teh-Poot, Fabian Gusovsky, Kathryn Jones, Peter Hotez, Liliana Estefanía Villanueva-Lizama, Maria Elena Bottazzi, Jaime Ortega-Lopez, Julio Vladimir Cruz-Chan

Faculty, Staff and Students Publications

Chagas disease is a poverty-related neglected tropical disease caused by the protozoan Trypanosoma cruzi affecting approximately 6.3 million people, predominantly in the Americas. Approximately 30% of T. cruzi infections progress to chronic cardiomyopathy and 10% of these cases end in death from cardiac failure. The first-line drug Benznidazole (BNZ) require a prolonged treatment regimen and can be highly toxic. Here, we evaluate a therapeutic vaccine in T. cruzi-infected mice, based on the recombinant Trypomastigote Surface Antigen 1 (TSA-1.C4) protein and the emulsified adjuvant E6020, and in combination with a suboptimal dose of BNZ. We observed a reduced burden parasite in …

Efficient Multi-Kilobase Knock-Ins In Mice And Cell Lines Using Crispr/Cas9 And Raav Donors With Unbiased Whole-Genome Characterization By Lock-Seq, Monica F Sentmanat, Zi Teng Wang, Evguenia Kouranova, Samuel T Peters, Wan Ching Chan, Jed Lin, Yong Miao, J Michael White, Mia Wallace, Xiaoxia Cui

2020-Current year OA Pubs

Multi-kilobase knock-ins (KIs) are a necessary, yet challenging type of genome editing to create and characterize in cell lines and animals. The combination of rAAV donor transduction and electroporation of single-cell mouse embryos with Cas9/gRNA ribonucleoprotein complex enables highly efficient KI, but the insert size is limited by the viral packaging capacity. Here, we report the creation of up to 6.7 kb precise KI achieved in one step by using three rAAVs designed to insert one after the other. To fully characterize the edited genome with large KIs, we developed LOCK-seq (LOng-read sequencing of Captured Kilo-base targets), where relevant genomic …

Documenting For Success: A Case Study Of A Graduate Writing Retreat, Elliott Rose, Denise Wetzel, Sara C. Kern, Katie O'Hara-Krebs, Laurin Davis, Salah Seoudi, Carmen Cole

Transforming Libraries for Graduate Students

Graduate students often find themselves balancing the demands of research and writing while managing complex academic and personal needs. Writing retreats provide an intentional space for graduate students to focus on their academic goals while supporting community-building, institutional belonging, and a welcoming environment. This proposal outlines a model for academic librarians and staff to plan and implement an effective graduate writing retreat designed to support graduate student academic activities through intentional collaboration and documentation.

Penn State University’s (PSU) Graduate Student Writing Retreat started as an event housed within the University Library’s Science, Technology, Engineering, and Math (STEM) department. The retreat …

A Pilot Study Of A Comprehensive Mental Health Intervention For Collegiate Athletes., Joshua Celebre, Philip Sullivan, Mishka E.V. Blacker

Journal of Athlete Development and Experience

Research on mental health interventions for athletes have recognized systematic limitations in the field (i.e., a dearth of randomized control trials, and lack of long-term follow up measurement). The current study summarized the pilot study of the Canadian Mental Health Association’s Talk Today mental health intervention within collegiate sport. Four teams (two male (n = 64), two female (n = 74)) were randomly assigned to an intervention or a wait-list control condition. Mental health literacy, stigma, psychological distress, and help-seeking were measured at four different timepoints, including a 6-month follow up. There were no significant effects between the …

Cv: Christopher Dela Rosa (Physical Therapy), Christopher Dela Rosa

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.

Cv: Jenna Sweet (Physical Therapy), Jenna Sweet

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.

Cv: Robert Sweet (Physical Therapy), Robert Sweet

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.

Onc-Safe: Oncology-Specific Fall Prevention Initiative, Aubry C. Townzen, Stella Chigbrow, Katie Mcbride, Payton Bolin

SPARK Symposium Presentations

ONC-SAFE: Oncology-Specific Fall Prevention Initiative

Aubry Townzen, Stella Chigbrow, Katie McBride, Peyton Bolin

ONC-SAFE aims to decrease fall rates and fall-related injuries on an inpatient oncology unit by improving staff adherence to bed alarm activation for high-risk patients through the use of doorframe reminder posters and targeted staff education. Falls are a significant patient safety concern in oncology populations due to cancer- and treatment-related risk factors such as chemotherapy-induced peripheral neuropathy, anemia, orthostatic hypotension, fatigue, muscle weakness, cognitive changes, and medication effects, including opioids, sedatives, and antiemetics. Hospitalized oncology populations identify impaired mobility, treatment-related symptoms, and medication effects as primary …

Thermal Inequities In Public Parks And Open Spaces In Los Angeles Determined By Remote Sensing, Ashley Agatep, Joshua B. Fisher, Kainani Tacazon, Ambar Rivera, Rossmery Zayas, Reginald Archer, Juan Carlos Ruiz Malagon, Jason A. Douglas

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Urban heat island (UHI) effects are amplified by disparities in community-level cooling infrastructure—such as urban public parks and open spaces (PPOS)—with the most severe impacts occurring in communities that lack sufficient city-wide cooling resources. We found that the underserved community of South Los Angeles, as compared to their neighboring West Los Angeles counterparts, suffers a double burden of inequitable (1) access to and (2) absence of cooling materials and surfaces within these spaces, resulting in significantly hotter temperatures. Identifying these inequities requires high-resolution temporal and spatial mapping of surface temperatures, which has been previously limited. In this community-based participatory research …

Depression And Psychotic Disorders Worsen Perioperative Outcomes And Increase Resource Utilization After Multilevel Lumbar Fusion: Implications For Screening And Perioperative Care, Leonidas E. Mastrokostas, Paul G. Mastrokostas, Luke B. Schwartz, Abigail Razi, Sean Inzerillo, John K. Houten, Arya Varthi, Alex R. Vaccaro, Jad Bou Monsef, Afshin E. Razi, Mitchell K. Ng

Rothman Institute Papers

CONTEXT: Multilevel lumbar fusion use has increased with an aging U.S. population. Depression and psychotic disorders are linked to poorer surgical outcomes, but their effects in this setting are unclear.

AIMS: The aims of this study were to quantify the prevalence of these disorders and evaluate associations with perioperative outcomes and resource use.

SETTINGS AND DESIGN: This was a retrospective cohort study using the National Inpatient Sample from 2016 to 2022.

SUBJECTS AND METHODS: Depression and psychotic disorders were defined using Elixhauser-derived indicators. Outcomes included medical and mechanical complications, discharge disposition, length of stay (LOS), and costs.

STATISTICAL ANALYSIS USED: …

Role Of Plants And Phytochemicals In Promoting Proliferation And Osteogenic Differentiation Of Dental Mesenchymal Stem Cells: A Comprehensive Review, Hala El-Zahar, Essam Abdel-Sattar, Marwa Yousry Moustafa Issa, Shereen N. Raafat, Noha Swilam

Dentistry

Abstract Objectives Dental mesenchymal stem cells (MSCs) represent a promising source for regenerative medicine due to their accessibility and capacity to differentiate into osteoblasts and other lineages. Osteogenic differentiation of dental MSCs is essential for bone formation and is regulated by multiple signaling pathways, cytokines, growth fac‑ tors, and transcription factors. This review aims to summarize the effects of plant-derived extracts and phytochemicals on the proliferation and osteogenic differentiation of dental MSCs. Methods In this review, an extensive literature search was conducted covering studies from the past 10 years, using different online databases (SCOPUS, Google Scholar, PubMed, Web of Science, …

Advancing Hope: Clinical Trials In Pediatric Cancer, Michael Smith, Kevin Ginn

Pediatrics in Practice: A CME Podcast

Clinical trials are the backbone of progress in pediatric oncology, offering new pathways to treatment and survival for children facing cancer. In this episode, we sit down with Kevin Ginn, MD, a leading expert in pediatric cancer research, to explore why clinical trials matter, how pediatricians can support families through the process, and what innovations are shaping the future of care. From ethical considerations to practical challenges, Dr. Ginn shares insights that empower pediatricians to guide families with confidence and compassion.

Click here to stream the podcast episode.

Ear Infections In Pediatrics: Prevention, Treatment And When To Refer, Michael Smith, Laura Neff

Pediatrics in Practice: A CME Podcast

Ear infections are one of the most common conditions seen in pediatrics. In this episode, Laura Neff, MD, pediatric otolaryngologist, shares practical guidance on preventing and treating ear infections in children.

We discuss antibiotic decision‑making, watchful waiting, prevention strategies, and when recurrent infections or hearing concerns should prompt an ENT referral. Pediatricians will leave with clear, evidence‑based takeaways for everyday practice.

Click here to stream the podcast episode.

Comprehensive, Multidisciplinary Care For Fragile X-Associated Tremor/Ataxia Syndrome, James A. Bourgeois, Andrea Schneider, Jessica Klusek Ph.D., Ccc-Slp, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randy J. Hagerman

Faculty Publications

Objective: 

The authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG repeats).

Participants: 

A multispecialty and multidisciplinary team of authors with backgrounds in psychiatry, pediatrics, clinical psychology, speech and language pathology, and neurosciences.

Evidence: 

Review of English language sources on the clinical phenomenology, genetics, pathophysiology, and clinical management of FXTAS from 2001 (the original report) through 2025, with emphasis on the general medical, psychiatric, and neurological features of FXTAS and its multispecialty and multidisciplinary clinical management.

Consensus process:

All authors contributed to the …

Depressive Symptoms, Campus Connectedness, And Campus Climate Related To Sexual Violence And Misconduct, Stephanie A. Navarro Silvera, Amanda S. Birnbaum, Eva S. Goldfarb, Ranju Mainali, Lisa D. Lieberman

Department of Public Health Scholarship and Creative Works

Depression, although a consequence of sexual violence, has not been studied in the context of college students’ views of campus sexual violence climate. Depression is one of the most prevalent and impairing mental health concerns among college students and has well-established links to sexual violence victimization; therefore, it serves as a theoretically and clinically meaningful focal outcome. Therefore, we assessed perceptions of institutional climate in the context of self-reported depression. Undergraduates (n = 716) reported perceptions and experiences of campus sexual violence and misconduct, connectedness, attitude, and depressive symptoms in an online survey. More than a third of participants reported …

Patient Perceptions And Knowledge Of Corticosteroid Injections: A Cross-Sectional Survey Study, Juliet Chung, Sina Ramtin, Philip Koehler, Stephen Stache, Charles Langman, Bryan Hozack, Asif M. Ilyas

Rothman Institute Papers

INTRODUCTION: Although cortisone injections are commonly used, patient understanding of cortisone is variable and often affected by misconceptions. This study explores patient perspectives, identifies misconceptions, and emphasizes the importance of improved patient education to enhance patient-centered care.

METHODS: A cross-sectional survey study was conducted from April to August 2024 among patients aged 18 and older presenting to an orthopedic physicians' office. Patients completed a novel anonymous questionnaire designed to assess their knowledge and perceptions of cortisone injections. A total of 246 patients participated, with responses collected electronically via SurveyMonkey.

RESULTS: Among 246 respondents, individuals with history of prior cortisone infections …

Cv: Arvie Vitente (Physical Therapy), Arvie Vitente

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.

Prevalence Of Undiagnosed Dyspepsia, Associated Factors, And Its Relationship With Quality Of Life Among Undergraduate Health Program Students At Makerere University In Uganda, Shamim Nabidda, Christine Atuhurra Kabahinda, David Wagaba, Samuel Okellodepartment Of Clinical Epidemiology And Biostatistics, School Of Medicine, College Of Health Sciences, Makerere University, Kampala, Uganda, Derrick Mugisha, Evan Atwebembeire, Happy Unith, Lule Daniel, Andrew Marvin Kanyike, Ibrahim Edrisa Mutebi, Mark Kaddu Mukasa, Joan N. Kalyango

School of Nursing & Midwifery, East Africa

Introduction:  Dyspepsia affects 6.9% of people globally and significantly impairs quality of life, yet it often remains undiagnosed. Undiagnosed dyspepsia (UD) affects up to one-third of patients and is prevalent among students due to stress, irregular eating, and self-medication. In Uganda, limited access to endoscopy results in many cases being undiagnosed, yet recent data among health program students remains scarce.

Objective:  To determine the prevalence of UD, associated factors, and its relationship with QoL among undergraduate health program students at Makerere University.

Methods:  This was a cross-sectional study involving 378 undergraduate health program students from Makerere University between March and …

Primary Vaginal Epithelioid Haemangioendothelioma With Pulmonary Metastasis: A Case Report And Review Of The Literature, Anwar Al Shuaili, Huda Kashoob, Zahida Niaz, Nausheen Yaqoob, Khadhra Ahmed J. Galaal, Reem Ahmed Al Mazrouai

Sultan Qaboos University Medical Journal

Epithelioid haemangioendothelioma (EHE) is a rare vascular sarcoma of intermediate malignancy. In 2023, a 31-year-old female presented to a tertiary care hospital in Muscat, Oman, with symptoms later diagnosed as primary vaginal EHE. The patient had primary, locally invasive vaginal EHE that subsequently metastasised to the lungs. The patient experienced progression of systemic disease despite chemotherapy and was therefore transitioned to palliative chemotherapy. The clinical, radiological and histopathological findings as well as the diagnostic features that distinguish EHE from its aggressive mimic, epithelioid angiosarcoma, are described in this report. This case highlights the diagnostic challenges, the importance of molecular confirmation …

Glucagon-Like Peptide 1 Receptor Agonist Discontinuation And Risks Of Major Adverse Cardiovascular Events In Adults With Type 2 Diabetes: Target Trial Emulation, Yan Xie, Taeyoung Choi, Ziyad Al-Aly

2020-Current year OA Pubs

OBJECTIVES: To characterise patterns of use of glucagon-like peptide 1 receptor agonists (GLP-1RAs) and assess the associations between various GLP-1RA treatment scenarios and the risk of major adverse cardiovascular events.

DESIGN: Target trial emulation.

SETTING: Electronic healthcare databases of US Department of Veterans Affairs, 1 January 2017 to 31 December 2023. Data obtained from domains in the Veterans Affairs Corporate Data Warehouse.

PARTICIPANTS: Veterans Affairs users with type 2 diabetes who started treatment with GLP-1RAs (n=132 551) or sulfonylureas (n=201 136), followed up for three years. Veterans Affairs users were defined as having at least two visits to Veterans Affairs …

Outcomes Of Lumbar Fusion Surgery In Isthmic Versus Degenerative Spondylolisthesis: A Systematic Review And Meta-Analysis, Pavlos Texakalidis, Stavros Matsoukas, Constantine L. Karras, Christopher S. Ahuja, Najib El Tecle, Tyler R. Koski, Nader S. Dahdaleh

Department of Neurosurgery Faculty Papers

Lumbar spondylolisthesis can cause a significant disability due to back and lower extremity pain. Degenerative spondylolisthesis (DS) and isthmic spondylolisthesis (IS) are the two most common types. DS results from arthritic changes and degenerative disc disease, whereas IS occurs secondary to a pars interarticularis defect. This study compared surgical outcomes between IS and DS. A systematic literature review and meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Twenty studies comprising 3136 patients were included (DS: 1944; IS: 1192). No differences were identified in terms of estimated blood loss (mean difference [MD]: 5.79, 95% …

The Agreement Between Pulse Oximetry And Measured Arterial Oxygen Saturations In Postoperative Functionally Univentricular Patients, Fabio Savorgnan, Sebastian Acosta, Joshua Prabhu, Pranathi Pilla, Vikram Shah, Saul Flores, Rohit S Loomba

Faculty, Staff and Students Publications

Background: Pulse oximetry is widely used to estimate arterial oxygen saturation, yet accuracy may vary for a number of reasons. Data on children with functionally univentricular circulation are limited. The primary aim of this study was to evaluate the agreement between arterial oxygen saturation measured by blood gas and pulse oximetry in children with functionally univentricular circulations. Methods: A retrospective analysis was performed of paired arterial blood gas and pulse oximetry oxygen saturation measurements following Norwood, Glenn, or Fontan procedures. Signed difference was defined as arterial oxygen saturation by blood gas-arterial oxygen saturation by pulse oximetry. Bland-Altman analyses, …

“Real-World Prognostic Performance Of Different Severe And Advanced Heart Failure Definitions: Data From The Swedish Heart Failure Registry”, Federica Guidetti, Lars H Lund, Lina Benson, Camilla Hage, Felix Lindberg, Christian Basile, Alessandro Villaschi, Francesca Musella, Davide Stolfo, Raffaele Scorza, Guillame Baudry, Charlotta Ljungman, Oscar Braun, Valeria Valente, Biykem Bozkurt, Marco Metra, Gianluigi Savarese

Faculty, Staff and Students Publications

Background: A valid definition of severe heart failure (HF) is essential for earlier identification, timely referral for advanced therapies, and to optimize clinical trial design.

Objectives: To assess the prevalence, prognostic performance, and 1-year outcomes associated with different definitions of severe and advanced HF (AdvHF) in patients with heart failure with reduced ejection fraction (HFrEF).

Methods: We included 15,153 patients with EF < 40%, HF duration >6 months, and no prior left ventricular assist device or heart transplant, from the Swedish Heart Failure Registry. Several definitions of severe/AdvHF were evaluated: a simplified Heart Failure Association (HFA) definition (NYHA III-IV, EF < 30%, ≥2 HF hospitalizations in 12 months), the GALACTIC-Severe-definition (NYHA III-IV, EF < 30%, ≥1 hospitalization in 6 months), and variations adding/removing criteria such as NT-proBNP levels and diuretic dose to the HFA-AdvHF definition. Predictive performance and 1-year outcomes were analyzed.

Results: The HFA-definition identified …

Impact Of Long-Term Nitrogen Scavenger Therapy On Clinical Outcome In Individuals With Urea Cycle Disorders, Roland Posset, Friederike Epp, Sven F Garbade, Florian Gleich, Andrea L Gropman, Sandesh C S Nagamani, Georg F Hoffmann, Stefan Kölker, Matthias Zielonka

Faculty, Staff and Students Publications

Principles of long-term medical management in individuals with urea cycle disorders (UCDs) encompass (1) a low protein diet, (2) supplementation of arginine and/or citrulline along with essential amino acids, nutrients, vitamins and trace elements, and (3) use of nitrogen scavenging agents to reduce recurrent hyperammonemic events (HAEs). These principles aim at providing metabolic stability, elimimation of chronic complications, and achievement of normal development as well as growth. A retrospective comparative analysis was performed by studying 138 individuals with male ornithine transcarbamylase deficiency (mOTC-D), citrullinemia type 1 (CTLN1) and argininosuccinic aciduria (ASA) based on in vitro residual enzymatic activity for severity-adjustment. …