Digital Commons Network^™

Prospective Phase Ii Clinical Trial Of Molecular Glioblastoma (Historical Grade 2 And 3 Idh Wildtype Gliomas) Preliminary Novel Exploratory Analyses: Treatment Intensification, Margin Reduction And Epigenetic Stratified Outcomes With Radiation Therapy And Chemotherapy, Debra Nana Yeboa, Benjamin T Whitfield, Ruitao Lin, Chinenye Lynette Ejezie, Todd A Swanson, Thomas H Beckham, Chenyang Wang, Brian De, Subha Perni, Martin C Tom, Jing Li, Susan L Mcgovern, Rebecca Harrison, Nazanin K Majd, Vinay K Puduvalli, Ashley E Aaroe, Monica Loghin, Barbara J O'Brien, Anuj D Patel, Chirag B Patel, Jeffrey S Wefel, Ceylan Altintas Taslicay, Maria Gule-Monroe, Arnold C Paulino, Mary Frances Mcaleer, David R Grosshans, Amol J Ghia, Wen Jiang, Caroline Chung, Moshe Maor, Cheng-Han Yang, Maria A Gubbiotti, Carlos Kamiya-Matsuoka, Leomar Y Ballester, Shiao-Pei Weathers, Jason T Huse

Faculty, Staff and Student Publications

Purpose: Molecular glioblastoma (molGBM) is a variant lacking the full histopathological profile of glioblastoma. We report a trial aimed at addressing the optimal management of this newly recognized rarer form of glioma.

Methods: In this phase II study, molGBM patients were treated with radiation to a dose of 60Gy to the gross tumor volume (GTV) only, and a single smaller margin potentially as low as 1cm to the clinical tumor volume (CTV). As the trial is ongoing, we report on important exploratory biomarker findings correlating with median overall survival (mOS). Analysis included Kaplan-Meier and univariable/multivariable cox proportional hazard models. Available …

Cofilin Inhibition Ameliorates Piezo2 And Ampa Dysfunction In A Mouse Model Of Angelman Syndrome, Luis O Romero, Manisha Bade, Elisa Carrillo, Sonia Paz-López, Syed A M Hasan, William James Antonisamy, Vasanthi Jayaraman, Zahoor A Shah, Valeria Vásquez, Julio F Cordero-Morales

Faculty, Staff and Student Publications

Angelman syndrome (AS) is a neurogenetic disorder characterized by motor coordination and cognitive deficits. In AS, hippocampal neurons show reduced filamentous (F-)actin, a decrease we also reported in dorsal root ganglia (DRG) neurons, along with impaired mechanosensitive ion channel activity. Currently, there are no pharmacological targets to prevent the decrease of F-actin in AS. Here, we utilize a first-in-class selective cofilin inhibitor (SZ-3) to restore PIEZO2 function in DRG neurons and glutamate-evoked currents in hippocampal neurons from AS mice. Using atomic force microscopy, we demonstrate that inhibiting cofilin, an actin-severing protein, with SZ-3 increases cellular stiffness by stabilizing the actin …

Family Planning Interventions Across The League Of Arab States: A Regional Scoping Review, Basil H. Aboul-Enein, Suha Ballout, Patricia J. Kelly

College of Nursing Faculty Papers & Presentations

Family planning is crucial in improving maternal and child health, reducing fertility rates and promoting gender equity. Despite global advancements in contraceptive access, disparities persist across the League of Arab States due to sociocultural, economic and policy barriers. Understanding the effectiveness of existing family planning interventions in this region is essential for addressing unmet needs and guiding policy improvements. This scoping review aims to identify and appraise family planning interventions conducted across the League of Arab States. A comprehensive search of 14 databases was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews guidelines, focusing …

Effects Of Combining Traditional East Asian And Conventional Western Medicine On Acute Stroke Outcomes, Dong-Seok Gwak, Jong-Sik Lee, Dawid Schellingerhout, Jinyong Chung, Hyerin Oh, Sang-Wuk Jeong, Ji Sung Lee, Hee-Joon Bae, Mikyung Kim, Dong-Jun Choi, Dong-Eog Kim

Faculty, Staff and Student Publications

Background: Traditional East Asian medicine (TM) is widely used in Korea and other East Asian countries. However, the effects of TM treatment on acute ischemic stroke (AIS) outcomes remain unclear, as previous studies lacked a sufficient sample size, a consecutive series design, or a prospective outcome capture approach. We aimed to investigate whether combining TM with conventional Western medicine (CM) treatments (C+TM) leads to better outcomes after AIS, relative to CM treatment alone.

Methods: We retrospectively analyzed 2157 consecutive patients with AIS from a prospectively collected registry (2011-2021) at our center and compared the CM and C+TM groups in terms …

A Recurrent Acaa2 Variant Causes A Dominant Syndrome Of Lipodystrophy, Lipomatosis, Infantile Steatohepatitis And Hypoglycemia, Vinaya Simha, Mary Kate Lopiccolo, Anna Platt, Rebecca J Brown, Xandria Johnson, Deanna Alexis Carere, Colleen Donnelly, Matthew T Snyder, Chao Xing, Thomas P Mathews, Purva Gopal, Stephen C Ward, Diana R Tomchick, Anil K Agarwal, Ralph J Deberardinis, Abhimanyu Garg

Faculty, Staff and Student Publications

No abstract provided.

Large-Scale Profiling Of Antibody Reactivity To Glycolipids In Patients With Guillain-Barré Syndrome, Robin C M Thomma, Susan K Halstead, Laura C De Koning, Eveline J A Wiegers, Dawn S Gourlay, Anne P Tio-Gillen, Wouter Van Rijs, Henning Andersen, Giovanni Antonini, Samuel Arends, Shahram Attarian, Fabio A Barroso, Kathleen J Bateman, Luana Benedetti, Peter Van Den Bergh, Jan Bürmann, Mark Busby, Carlos Casasnovas, Efthimios Dardiotis, Amy Davidson, Thomas E Feasby, Janev Fehmi, Giuliana Galassi, Tania Garcia-Sobrino, Volkan Granit, Gerardo Gutiérrez-Gutiérrez, Robert D M Hadden, Thomas Harbo, Hans-Peter Hartung, Imran Hasan, James K L Holt, Zhahirul Islam, Summer Karafiath, Hans D Katzberg, Noah Kolb, Susumu Kusunoki, Satoshi Kuwabara, Motoi Kuwahara, Helmar C Lehmann, Sonja E Leonhard, Lorena Martín-Aguilar, Soledad Monges, Eduardo Nobile-Orazio, Julio Pardo, Yann Pereon, Luis Querol, Ricardo C Reisin, Simon Rinaldi, Paolo Ripellino, Rhys C Roberts, Olivier Scheidegger, Nortina Shahrizaila, Kazim A Sheikh, Nicholas J Silvestri, Soren H Sindrup, Beth Stein, Cheng Y Tan, Hatice Tankisi, Leo H Visser, Waqar Waheed, Ruth Huizinga, Bart C Jacobs, Hugh J Willison

Faculty, Staff and Student Publications

Guillain-Barré syndrome is an acute polyradiculoneuropathy in which preceding infections often elicit the production of antibodies that target peripheral nerve antigens, principally gangliosides. Anti-ganglioside antibodies are thought to play a key role in the clinical diversity of the disease and can be helpful in clinical practice. Extensive research into clinical associations of individual anti-ganglioside antibody specificities has been performed. Recent research has highlighted glycolipid complexes, glycolipid combinations that may alter antibody binding, as targets. In this study, we investigated antibody reactivity patterns to glycolipids and glycolipid complexes using combinatorial array, in relation to clinical features in Guillain-Barré syndrome. In total, …

A Multiomics Approach To Defining Target-Organ Injury In Youths With Primary Hypertension: The Ship Ahoy Cohort, Kalyani Ananthamohan, Tammy M Brady, Mohammed Arif, Stephen R Daniels, Bonita Falkner, Michael Ferguson, Joseph T Flynn, Coral Hanevold, Stephen R Hooper, Julie R Ingelfinger, Marc Lande, Lisa J Martin, Kevin E Meyers, Mark Mitsnefes, Bernard Rosner, Joshua A Samuels, Gina Kuffel, Michael J Zilliox, Qin M Chen, Richard C Becker, Elaine M Urbina, Sakthivel Sadayappan

Faculty, Staff and Student Publications

Background: Primary hypertension in childhood tracks into adulthood and is associated with increased cardiovascular risk. Studies conducted in individuals aged < 18 years, an age group without many of the confounding comorbid cardiovascular disease risk factors in adults, provide an opportunity to explore early cardiovascular target-organ injury.

Methods: Youths (n=132, mean age, 15.8 years) were stratified by blood pressure (BP) as low-BP, mid-BP, and high-BP and by left ventricular mass index as low-and high left ventricular mass index. Systemic circulating RNA, microRNA, and methylation profiles in peripheral blood mononuclear cells and deep proteome profiles in serum were determined using high-throughput sequencing techniques. In vitro cell culture experiments assessed angiotensin II- and microRNA-mediated Vash1 (vasohibin-1 protein) regulation and Vash1-mediated hypertrophic response.

Results: In high-BP youths, transcriptomics analysis identified …

Global Trends And Forecast Of Cardiovascular Diseases, Cancer, And Shared Risk Factors: Insights From The Gbd 2021, Chieh Y Koo, Bryan Chong, Jayanth Jayabaskaran, Srinithy Nagarajan, Silingga M Jauhari, Yiming Chen, Li L Tan, Anurag Mehta, Muhammad S Khan, Mark Muthiah, Derek Hausenloy, A M Richards, Dennis T Ko, Christian D Mallen, Eric A Secemsky, Mark Y Chan, Paaladinesh Thavendiranathan, Nicholas W S Chew, Mamas A Mamas

Faculty, Staff and Students Publications

Background: Cardiovascular disease (CVD) and cancer share multiple risk factors and are the leading causes of morbidity and death worldwide. This study aims to examine historical and projected trends of the combined CVD-cancer global estimates and their shared risk factors.

Methods: Death and disability-adjusted life years (DALYs) associated with CVDs, cancers, and their risk factors were obtained from the GBD (Global Burden of Disease) 2021 study. Historical estimates from 1990 to 2021 and forecast data from 2025 to 2050 were examined across age groups, regions, sociodemographic index, and sex.

Results: In 2021, CVD-cancer resulted in age-standardized DALY rates of 8009 …

Timing And Mode Of Death Following Treatment Of Neonatal Symptomatic Tetralogy Of Fallot, Sara M Trucco, Yun Zhang, Andrew C Glatz, Michael L O'Byrne, Christopher J Petit, Athar M Qureshi, Jeffrey D Zampi, Shabana Shahanavaz, George T Nicholson, Allen Ligon, Jennifer C Romano, Shiraz A Maskatia, Jeffery J Meadows, Christopher Mascio, Jay Patel, Kathryn Stack, Asaad G Beshish, Mark Law, Sarosh P Batlivala, Jeannette Wong-Siegel, Kristal Hock, Sarah Speed, Hala Khan, Disha Goel, Courtney Mccracken, Bryan H Goldstein

Faculty, Staff and Students Publications

Background: Neonates with tetralogy of Fallot and symptomatic cyanosis (sTOF) require early intervention, using a staged or primary repair strategy. Postprocedural mortality risk within this group is considerable. The mode of death and associated factors have been inadequately defined in early childhood mortality following treatment of sTOF. This study aims to describe the timing, cause, and associated risk factors of postprocedural death in infants with sTOF.

Methods: Neonates with sTOF who had an initial intervention from 2005 to 2017 at 9 centers of the Congenital Cardiac Research Collaborative were reviewed. Among nonsurvivors, details regarding timing, cause of death, and last …

Optimising Drowning Prevention Counselling Through A Physician Maintenance Of Certification (Moc) Quality Improvement (Qi) Initiative, Tracy E Mccallin, Anthony R Arredondo, Elizabeth A Camp, Shabana Yusuf

Faculty, Staff and Students Publications

Drowning is the leading cause of death in children 1–4 years old in the USA. Paediatricians play an important role in giving anticipatory guidance on drowning prevention. This quality improvement initiative aimed to increase the rate of drowning prevention counselling with provision of educational materials to caregivers of children aged 0–10 years during clinical encounters in an outpatient setting.

We refined a previously published Texas state educational programme that included evidence-based counselling strategies across three Plan Do Study Act (PDSA) cycles, with the addition of preintervention baseline counselling phase during expansion of the programme nationally to 17 and 21 states …

Validation Of A Risk Score For Cancer-Associated Thrombosis Using Nationwide Ehr Data, Ang Li, Omid Jafari, Barbara D Lam, Jun Y Jiang, Rock Bum Kim, Shengling Ma, Emily Zhou, Joyce W Tiong, Elizabeth C Chiang, Justine Ryu, Christopher I Amos, Jennifer La, Nathanael R Fillmore

Faculty, Staff and Student Publications

Importance: Venous thromboembolism (VTE) is associated with increased mortality and morbidity in patients with cancer. Existing risk prediction models are typically validated within individual sites, a fragmented approach that limits clinical adoption.

Objective: To validate the electronic health record cancer-associated thrombosis (EHR-CAT) score compared with the benchmark Khorana score in a contemporary cohort of patients with cancer across the nation, before and after treatment, excluding those at high risk of bleeding.

Design, setting, and participants: This prognostic study included patients in a nationwide longitudinal EHR database from January 2018 to December 2023 with follow-up continuing to April 2025. Patients with …

Evaluation Of Integrative Oncology Modalities For Symptom Management: A Mascc/Sio Global Survey, Alexandre Chan, Reem Nasr, Daniela Arcos, Dalia Kagramanov, Chioma Asuzu, Ting Bao, Yin Ting Cheung, Jung Hye Kwon, Judith Lacey, Richard T. Lee, Maryam Lustberg, Beatrice M. Ohaeri, Santosh Rao, Enrique Soto-Perez-De-Celis, Claudia M. Witt, Ana M. Lopez

Kimmel Cancer Center Faculty Papers

BACKGROUND: With growing evidence pointing towards the potential of integrative oncology modalities (IOM) in addressing cancer and cancer-treatment related symptoms, research on IOM utilization and implementation is warranted. This study examines global stakeholder perspectives on integrative oncology (IO) utilization for supportive cancer care.

METHODS: Members of the Multinational Association of Supportive Care in Cancer (MASCC) and the Society for Integrative Oncology (SIO) completed a survey on the utilization of IOM for supportive cancer care. Descriptive statistics were used to assess demographic data, IOM usage patterns, IOM education, and financial considerations for utilizing IOM.

RESULTS: Among 344 participants representing eight geographical …

Risk Of Late-Onset Depression In Long-Term Survivors Of Breast, Prostate, And Colorectal Cancer, Melissa Taylor, Sarah Westvold, Jessica Long, Terry Hyslop, Andrea Silber, Rebecca Forman, Faiza Yasin, Tendai Kwaramba, Shi-Yi Wang, Michael Leapman, Michael Cecchini, Ira Leeds, Lisa Spees, Stephanie Wheeler, Cary Gross, Kevin Oeffinger, Michaela Dinan

Kimmel Cancer Center Faculty Papers

IMPORTANCE: The prevalence of depression is higher in cancer survivors than in the general population. As the long-term cancer survivor population increases, it is increasingly important to understand risk factors for late-onset depression.

OBJECTIVE: To identify risk factors associated with late-onset depression in long-term (5-year) survivors of breast, prostate, or colorectal cancer.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study used 2022 linkage of Surveillance, Epidemiology, and End Results (SEER) and Medicare data to identify 5-year survivors of breast, prostate, or colorectal cancer 66 years or older who were enrolled in fee-for-service Medicare and had no previous depression diagnosis. Long-term …

Human Kallikrein 2: A Novel Lineage-Specific Surface Target In Prostate Cancer, Fei Shen, Ryan Smith, Theresa Mcdevitt, Krista Menard, Shaozhou Tian, Gerald Chu, Ruchi Chaudhary, Jennifer Mccann, Halley Oyer, Sherry C. Wang, Steven Max, Peter Francis, William K. Kelly, Charles G. Drake

Kimmel Cancer Center Faculty Papers

PURPOSE: Targeted therapies for metastatic prostate cancer are limited, highlighting the need for novel drug targets and mechanisms of action (MoA). Human kallikrein 2 (KLK2) is a prostate-specific antigen expressed across the prostate cancer disease continuum. However, it was not recognized as a therapeutic target for prostate cancer in the past due to limited evidence of its cell surface expression. In this study, we systematically characterized KLK2 expression in prostate cancer, confirmed its cell surface expression, and demonstrated the preclinical efficacy of three KLK2-targeting therapeutics with distinct MoA.

EXPERIMENTAL DESIGN: The KLK2 expression profile in different stages of prostate cancer …

Genomic Profiling Of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations, Vivian Tang, Yubai Chou, Cuyan Demirkesen, Michele M. Bloomer, Joseph B. Crawford, Ahmet M. Sarici, Carol L. Shields, Ralph C. Eagle Jr., Codrin E. Iacob, Walter P. Devine, Tatyana Milman, Melike Pekmezci

Wills Eye Hospital Papers

PURPOSE: Leiomyomas are benign smooth muscle tumors that commonly present in the uterus, soft tissue, skin, and gastrointestinal tract but in rare cases can also arise within the eye. Notably, intraocular leiomyomas often show slightly different histopathologic and immunohistochemical features, referred to as mesectodermal morphology, given their presumed neural crest origin. Genetic and cytogenetic alterations of intraocular leiomyomas, as well as their association with various clinical and histopathologic features, have not been previously studied.

METHODS: We identified eight patients diagnosed with intraocular leiomyoma and performed targeted next-generation sequencing, whole transcriptome RNA sequencing, and chromosomal copy number analysis on those with …

A Temperature-Sensitive Crispr-Cas12a System For Sterile Insect Technique, Christina Nguyen, Ahmed Idowu Omotayo, Sara Sanz Juste, Xuechun Feng, Víctor López Del Amo

Faculty, Staff and Student Publications

The sterile insect technique (SIT) reduces population numbers by releasing sterile males that produce non-viable progeny. Specifically, CRISPR/Cas9-based precision-guided SIT (pgSIT) generates sterile males through genetic crosses of two transgenic lines: a Cas9 strain and a guide RNA (gRNA) strain targeting male sterility and female viability or infertility. However, pgSIT requires separate maintenance of the two lines and sorting to obtain sterile males, creating possible challenges for scaling. To overcome this, we propose using Cas12a nuclease, which is inoperative at lower temperatures but active at higher temperatures. Here, we develop a Cas12a-based pgSIT system involving a single strain containing both …

Early Ctdna Dynamics Inform First-Line Therapy In Patients With Extensive-Stage Small Cell Lung Cancer, Carmela Ciardullo, Luis Tobalina, T Hedley Carr, Philip Szekeres, Silvija Kraljevic, Lauren Averett Byers, Giulia Fabbri

Faculty, Staff and Student Publications

Purpose: Small cell lung cancer (SCLC) is an aggressive malignancy with a poor prognosis despite initial treatment responses. This study evaluates ctDNA for monitoring disease and assessing the efficacy of first-line therapy in patients with extensive-stage SCLC (1L ES-SCLC).

Experimental design: In the TAZMAN trial, 31 patients with 1L ES-SCLC received standard treatment with durvalumab and etoposide plus carboplatin or cisplatin. We analyzed 228 plasma samples from 27 of 31 patients using a liquid biopsy approach to detect somatic mutations and copy-number aberrations, while also accounting for clonal hematopoiesis mutations.

Results: Baseline ctDNA analysis detected somatic alterations in 96.3% of …

A Multi-National Cross-Sectional Exploration Of Rehabilitation Services For Children And Young People Following Brain Injury In Low And Middle Income Countries, Mark A Linden, Leigh Schrieff-Brown, Linda Ewing-Cobbs, R A Leonard, Rajendra Prasad, Juan Carlos Arango-Lasprilla, Sandra Strazzer, Lucia Braga, Consuelo Reyes Payeras, Kim C Davis, Lisa Kalungwana-Mambwe, Flavia Dorrego, Mathilde Chevignard

Faculty, Staff and Student Publications

Background: Brain injury (BI) is the largest cause of mortality and morbidity among children and can lead to significant cognitive, social, emotional and behavioural deficits. There has been an absence of research examining the availability of rehabilitation services for affected children and young people in low and middle income countries (LMICs). This study therefore investigated current rehabilitation provision in LMICs for children and young people with BI.

Methods: An online survey was developed which collected data on funding support for rehabilitation, causes of BI and access to services. The survey was distributed to healthcare professionals known to members of the …

A Multiomics Recovery Factor Predicts Long Covid In The Impacc Study, Gisela Gabernet, Jessica Maciuch, Jeremy P Gygi, John F Moore, Annmarie Hoch, Caitlin Syphurs, Tianyi Chu, Naresh Doni Jayavelu, David B Corry, Farrah Kheradmand, Lindsey R Baden, Rafick-Pierre Sekaly, Grace A Mccomsey, Elias K Haddad, Charles B Cairns, Nadine Rouphael, Ana Fernandez-Sesma, Viviana Simon, Jordan P Metcalf, Nelson I Agudelo Higuita, Catherine L Hough, William B Messer, Mark M Davis, Kari C Nadeau, Bali Pulendran, Monica Kraft, Chris Bime, Elaine F Reed, Joanna Schaenman, David J Erle, Carolyn S Calfee, Mark A Atkinson, Scott C Brakenridge, Esther Melamed, Albert C Shaw, David A Hafler, Alison D Augustine, Patrice M Becker, Al Ozonoff, Steven E Bosinger, Walter Eckalbar, Holden T Maecker, Seunghee Kim-Schulze, Hanno Steen, Florian Krammer, Kerstin Westendorf, Bjoern Peters, Slim Fourati, Matthew C Altman, Ofer Levy, Kinga K Smolen, Ruth R Montgomery, Joann Diray-Arce, Steven H Kleinstein, Leying Guan, Lauren Ir Ehrlich

Faculty, Staff and Students Publications

Background: Following SARS-CoV-2 infection, approximately 10%–35% of patients with COVID-19 experience long COVID (LC), in which debilitating symptoms persist for at least 3 months. Elucidating the biologic underpinnings of LC could identify therapeutic opportunities.

Methods: We utilized machine learning methods on biologic analytes provided over 12 months after hospital discharge from more than 500 patients with COVID-19 in the IMPACC cohort to identify a multiomics “recovery factor,” trained on patient-reported physical function survey scores. Immune profiling data included PBMC transcriptomics, serum O-link and plasma proteomics, plasma metabolomics, and blood mass cytometry by time of flight (CyTOF) protein levels. Recovery factor …

Music As A Strategy To Improve Hypertension And Stroke Management: Evidence From A Crowdsourcing Open Call And Designathon In Nigeria, Chidi Okafor, Shravya Allena, Olufunto A Olusanya, Titilola Gbaja-Biamila, Temitope Ojo, Juliet Iwelunmor, Et Al.

2020-Current year OA Pubs

BACKGROUND: In Nigeria, cardiovascular diseases, especially hypertension, are on the rise. This increase in hypertension correlates with more strokes, significantly impacting mortality. Since hypertension often persists into adulthood, early interventions are crucial to prevent its complications. Non-invasive methods, such as music and creative activities, can effectively improve blood pressure and reduce stroke risk. This study aims to improve intergenerational awareness of hypertension and promote sustainable preventive practices by involving youth and caregivers within families and communities.

METHODS: We employed a participatory, observational design, incorporating a five-month crowdsourcing open call followed by a designathon event. Participatory social and health innovations were …

J. Robert Gladden Orthopaedic Society Research Grants: What Is The Return On Invesments, Lancelot Benn, Susan Stephens, Mark Ehioghae, Rishi Balkissoon, Brendan A. Williams, Shaina Lipa, David N. Bernstein, Gbolabo Sokunbi, Barrett I. Woods, Wakenda Tyler, Jaysson Brooks, Randall C. Morgan, Kwadwo Owusu-Akyaw, Wayne Johnson, Eric Carson, George V. Russell, Addisu Mesfin

Rothman Institute Papers

INTRODUCTION: The J. Robert Gladden Orthopaedic Society (JRGOS) aims to increase diversity in orthopaedic surgery and promote high-quality musculoskeletal care for all. Through targeted research funding, JRGOS supports projects aligned with its mission. Despite awarding over $300,000 in research grants since 2011, the return on investment (ROI) of this program has not been analyzed. This study evaluates the ROI of JRGOS research grants from 2011 to 2023.

METHODS: We conducted a retrospective review of all JRGOS research grants awarded between 2011 and 2023. Data included recipient demographics, grant titles, award year, institution, and amount. PubMed and Google Scholar were used …

Parental Psychosocial Outcomes After A Positive Newborn Screen For A Lysosomal Storage Disorder., Courtney D. Berrios, Randi N. Gadea, Meghan Strenk, Twisha Nadella, Jennifer L. Gannon, Janelle R. Noel-Macdonnell Phd

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study explores the psychosocial impact of a positive newborn screen (NBS) result for four lysosomal storage disorders (LSDs) (Fabry disease, Krabbe disease, Mucopolysaccharidosis Type I, Pompe disease) across confirmatory results.

METHODS: Parents whose child who had a positive NBS for one of the included LSDs were recruited for a retrospective cohort (n = 80) or prospective, longitudinal cohorts (n = 50). Surveys assessed uncertainty, anxiety, intrusive or avoidant thoughts, and perceived vulnerability of their child's health. In-depth interviews explored the NBS experience and psychosocial response.

RESULTS: Participants experienced uncertainty and anxiety during confirmatory testing that improved as parents …

Hand Swelling And Other Non-Raynaud Phenomenon Symptoms As The Initial Presentation Of Systemic Sclerosis: Prevalence And Clinical Associations In Two Us Cohorts, Iqtidar Hanif, Shervin Assassi, Maureen D Mayes, Zsuzsanna H Mcmahan, Meng Zhang, Julio Charles, John M Vanburen, Jessica S Alvey, Kimia Ghaffari, Elana J Bernstein, Flavia V Castelino, Lorinda Chung, Luke Evnin, Tracy M Frech, Jessica K Gordon, Faye N Hant, Laura K Hummers, Dinesh Khanna, Kimberly S Lakin, Dorota Lebiedz-Odrobina, Yiming Luo, Ashima Makol, Jerry A Molitor, Duncan F Moore, Carrie Richardson, Nora Sandorfi, Ami A Shah, Ankoor Shah, Victoria K Shanmugam, Virginia D Steen, Elizabeth R Volkmann, Carleigh Zahn, Brian Skaug

Faculty, Staff and Student Publications

Objective: Raynaud phenomenon (RP) is often the initial clinical manifestation of systemic sclerosis (SSc), but some patients develop other manifestations first. To help elucidate the diversity of SSc presentation in its early stages, we describe the initial clinical manifestations and antinuclear antibody (ANA) profiles of patients in two early SSc cohorts.

Methods: All patient data in the Genetics vs Environment in Scleroderma Outcomes Study (GENISOS) and Collaborative National Quality and Efficacy Registry (CONQUER) cohorts were reviewed. Both studies enrolled patients within five years of the first non-RP symptom.

Results: In GENISOS and CONQUER, respectively, 194 (44.2%) of 439 and 292 …

Neurodevelopmental Abnormalities Underlying Behavioral Deficits In A Model Of Pediatric Obstructive Sleep Apnea, Arvind Chandrakantan, Michael R Williamson, Vaishnav Krishnan, Mahyar J Hedayatpour, Adam C Adler, Nandani Adyapak, Chris S Ward, Russell Ray, David Durgan, Farrah Kheradmand, Benjamin Deneen

Faculty, Staff and Students Publications

Rationale: Pediatric Obstructive Sleep Apnea (POSA) is a relatively common childhood sleep disorder whose neurodevelopmental phenotype includes deficits in learning and memory, olfaction, and fine motor abilities.

Objectives: To date, there has not been a validated preclinical model of POSA, hampering efforts in understanding how nocturnal episodes of intermittent hypoxia disrupt neurodevelopmental trajectories. The objective of this study was to create a faithful sculpting of the human condition in a preclinical murine model.

Methods: We used clinical data from children with POSA to develop and validate a mouse model of POSA that faithfully recapitulates several behavioral deficits seen in the …

Cognitive Reserve Predicts Baseline Tau Burden In The Us Pointer Trial Imaging Cohort, Valory N Pavlik, Chris J Weber, Joseph C Masdeu, Laura D Baker, Melissa M Yu, Michele York, Rachel A Whitmer, Susan M Landau, Theresa M Harrison, Tomas M Holland, Laura Lovato

Faculty, Staff and Students Publications

Introduction: Higher cognitive reserve (CR) is associated with reduced dementia risk. We hypothesized that higher CR is associated with less baseline Alzheimer's disease (AD) pathology in the U.S. Study to Protect Brain Health Through Lifestyle Intervention to Reduce Risk (U.S. POINTER) cohort.

Methods: A subsample of participants underwent amyloid beta and tau positron emission tomography imaging. Regression analysis was used to model the association between educational attainment (EA) as a CR proxy measure, amyloid positivity, and entorhinal cortex (ERC) and meta-temporal region of interest (meta-ROI) tau standardized uptake value ratio (SUVR).

Results: In 911 participants with complete imaging data, higher …

Stomach Cancer Incidence In Asians As Compared To Other Ethnic Populations Over Time From 2000 To 2021 In Seer Areas Of The United States, Zhuoyun Li, Xianglin L Du

Faculty, Staff and Student Publications

Background: Stomach cancer is the fourth leading cause of cancer-related deaths globally, but its late-stage detection and its lack of early symptoms are still the main challenges ahead. Limited research has focused on detailed racial and ethnic disparities in stomach cancer incidence within the United States. This study aims to address these gaps by analyzing age-adjusted stomach cancer incidence rates from 2000 to 2021.

Methods: Using data from the US Surveillance, Epidemiology, and End Results (SEER) program (2000-2021), we identified a cohort of 138,628 individuals diagnosed with incident stomach cancer at age ≥ 20. Both crude and age-adjusted models were …

Estimating Daily Air Quality Exposure Of The Aging And Dementia Population, Wan-Tai Michael Au-Yeung, Moiz Usmani, Ryan Ramphul, Chao-Yi Wu, Hiroko Dodge, Joel Steele, Zachary Beattie, Jeffrey Kaye

Faculty, Staff and Student Publications

Background

To understand the effect of air quality on cognition, air quality measurements should reflect real-world exposure. Currently, air quality exposure is derived from outdoor air quality monitors despite older adults spending most of their time indoors.

Objective

To examine if there are discrepancies between indoor particulate matter 2.5 (PM2.5) at older adults’ personal residences, PM2.5 levels measured with nearest outdoor public air monitors, and remotely accessed gridded ensemble air quality data.

Methods

PM2.5 levels collected in older adults’ residences, collected from the nearest outdoor public air quality monitors and ensemble data from Hazardous Air Quality Ensemble System (HAQES) were …

Nonsteroidal Anti-Inflammatory Drug Use And Acute Kidney Injury In Nephrectomies: A Retrospective Propensity Score-Matched Cohort Study, Chun-Yan Ye, Long-Yan Li, Min-Jing Yang, Xing-Yang Liu, Ning Luo, Jing-Han Wu, Yu-Jie Xiao, Daniel I Sessler, E Wang

Faculty, Staff and Student Publications

Introduction: Nonsteroidal anti-inflammatory drugs (NSAID) are analgesic and spare opioids, but it remains unclear whether perioperative NSAID use worsens renal function after nephrectomy. We therefore tested the hypothesis that perioperative use of NSAID is associated with acute kidney injury (AKI) after nephrectomy surgery.

Methods: This retrospective cohort study included patients ≥18 years old who had partial or radical nephrectomies. Patients who were given intravenous NSAIDs for postoperative analgesia were defined as one group, whereas reference patients did not use any NSAIDs. The primary outcome was the occurrence of postoperative acute kidney injury (AKI), as defined by the Kidney Disease: Improving …

A Longitudinal Study Of The Association Between E-Cigarette Use Contexts And Alcohol Use Problems Among College Students, Tzung-Shiang Ou, Anne Buu, James J Yang, Hsien-Chang Lin

Faculty, Staff and Student Publications

Objective: Previous studies had explored the associations between e-cigarette use and alcohol use problems, yet they did not fully consider e-cigarette use contexts. This longitudinal study conducted a prospective examination of e-cigarette use contexts and alcohol use problems among college students.

Participants: College e-cigarette users at three public universities from Fall 2019 to Fall 2020 were included (N = 377).

Methods: A linear mixed model with a random intercept and random slope was employed to examine the longitudinal associations.

Results: Higher frequencies of e-cigarette use (β = 0.38, p < 0.001), being hooked on e-cigarettes (β = 0.96, p < 0.01), using e-cigarettes for socializing purposes (β = 0.58, p < 0.05), and more occasions of co-using e-cigarettes with alcohol (β …