Digital Commons Network^™

Valvular Heart Failure Is A Distinct Heart Transplant Phenotype With Comparable Adjusted Survival To Other Heart Failure Etiologies, Devon Kelley, Varun Kathawate, Joyce Ho, Andrew Belec, Takahiro Tashima, Kazuhiro Ueno, Jessica Dominic, Pavan Atluri

Division of Cardiology Faculty Papers

PURPOSE: Valvular heart failure (VHF) accounts for 1-5% of heart transplant listings. Comparative outcomes relative to other heart failure etiologies remain poorly characterized. This study defines the VHF phenotype and compares waitlist and transplant outcomes to other heart failure recipients.

METHODS: This retrospective cohort study uses the UNOS thoracic transplant database to analyze adult, first-time, heart-only listings with a diagnosis of heart disease. Patients were grouped by diagnosis as VHF or non-VHF. The primary outcome was waitlist events; post-transplant survival and outcomes were secondary analyses. Subgroup analysis was performed in the post-2018 allocation era.

RESULTS: VHF recipients were older (55.3 …

Predictors Of Adalimumab Durability In Hidradenitis Suppurativa: A Multicenter Cohort Study, Albert T. Young, Arashleen Pannu, Alexander Velaoras, Roland Leyson, Rayad B. Shams, Alexandra Turfe, Andrea Dai, Mohsen Mokhtari, Sarah Bassett, Joshua Vazhappilly, Richard W. Hass, Iltefat Hamzavi, Christopher J. Sayed, Qing-Sheng Mi, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Adalimumab is widely used for hidradenitis suppurativa (HS), but treatment durability varies and predictors of sustained benefit remain uncertain.

OBJECTIVE: To identify clinical and laboratory factors associated with adalimumab treatment durability in HS.

METHODS: We retrospectively studied 135 adults with HS who initiated adalimumab as first biologic therapy across three academic centers from 2013 to 2023. Outcomes were categorized as primary failure (12-24 weeks), secondary failure (24 weeks-2 years), or sustained response (>2 years) based on discontinuation for inefficacy. Predictors of treatment durability were evaluated using ordinal logistic regression.

RESULTS: In univariable analyses, Hurley stage 3, higher body …

Evaluation Of A Multiantigen Mrna Vaccine Against Eehv1a In Asian Elephants, Lauren Farris, Jessica Watts, Jeroen Pollet, Christine Molter, Sarah Cannizzo, Michael Wenninger, Jessica Heinz, Rebecca Eddy, Jessica Emerson, Dewey Maddox, Paul D Ling

Faculty, Staff and Students Publications

Elephant endotheliotropic herpesvirus (EEHV) is endemic in Asian elephants and can cause fatal hemorrhagic disease (HD) in juveniles, with calves aged 1-8 years being most vulnerable, particularly following the decline of maternal antibodies. Current supportive treatments, which commonly include fluids, plasma infusions, and human anti-herpesvirus drugs, are not consistently effective, highlighting the urgent need for preventative strategies. To address this challenge, we generated an EEHV1A multi-antigen mRNA vaccine targeting four conserved herpesvirus entry proteins (gB, gH, gL, and gO), which elicited robust humoral and cellular immune responses in mice without adverse effects. Based on these preclinical findings, a vaccine trial …

Race And Ethnicity And Overall Survival In Pediatric Acute Myeloid Leukemia, Daniel J. Zheng, Long Khuong, Catherine Aftandilian, Kira Bona, Emi H. Caywood, Caitlin W. Elgarten, Brian T. Fisher, Cody-Aaron L. Gathers, Taumoha Ghosh, M. Monica Gramatges, Gary Hettinger, Meret R. Henry, Yuan-Shung V Huang, Yimei Li, Kelly Maloney, Amir Mian, Tamara P Miller, Arunkumar Modi, Rajen Mody, Regina M. Myers, Haley Newman, Jose Ortiz, Alix E. Seif, Caroline Smith, Jamie Stokke, Naomi Winick, Jennifer J. Wilkes, Victor Wong, Richard Aplenc, Kelly D. Getz

Department of Pediatrics Faculty Papers

IMPORTANCE: Hispanic and non-Hispanic Black (hereafter, Black) children with acute myeloid leukemia (AML) have historically experienced worse survival outcomes compared with non-Hispanic White (hereafter, White) children. Understanding specific intermediate pathways underlying these outcome disparities is a critical step to directing interventional efforts and resources.

OBJECTIVE: To compare survival outcomes by race and ethnicity in a large contemporary cohort of pediatric patients with AML and to examine presentation acuity, frontline organ toxic effects, and relapse as potential mediators of any observed outcome disparities.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study was analyzed from April 2025 to January 2026 and included …

Surgical Outcomes Of Hidradenitis Suppurativa Excision: Factors Impacting Wound Healing Time, Christina Huang, Scott H. Koeneman, Sherry Yang, Sami Tannour

Department of Surgery Faculty Papers

Hidradenitis suppurativa (HS) can be treated surgically to excise recurrent and recalcitrant regions of disease activity. However, surgical outcomes are highly variable depending on closure method, concomitant medical management and area of excision. In this study, we aim to characterise the healing courses from HS excision in a case series. To reduce operator variability, we opted to conduct a case series from a single surgeon. Surgeries conducted from June 2024-December 2025 by surgeon S.T. were included, and the postoperative course was followed until February 2026. Surgical details and postoperative course for 34 sites of HS across 20 patients were analysed. …

Development Of A Structurally Distinct Topbp1 Inhibitor That Enhances Parp Blockade And Reverses Osimertinib Resistance, Fang-Tsyr Lin, Shwu-Jiuan Lin, Kang Liu, Yang Xiao, Lidija A Wilhelms Garan, Helena Folly-Kossi, Weei-Chin Lin

Faculty, Staff and Students Publications

Therapeutic resistance remains a major challenge in cancer treatment, driven by compensatory signaling and stress response pathways that sustain tumor survival. Topoisomerase IIβ-binding protein 1 (TopBP1), a multifunctional scaffold protein with nine BRCT domains, integrates replication stress signaling with oncogenic networks and is frequently overexpressed in aggressive cancers. Its BRCT7/8 domains mediate critical interactions with E2F1, mutant p53, MIZ1, PLK1, and CIP2A, making TopBP1-BRCT7/8 an attractive therapeutic target. Using docking-guided screening and structure-activity relationship–driven optimization, we developed CS18 as a potent and selective BRCT7/8 inhibitor that disrupts oncogenic TopBP1 complexes without interfering with DNA replication. CS18 suppresses MYC transcriptional programs, …

Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh

Abington Jefferson Health Papers

BACKGROUND: Young-onset stroke represents a growing public health concern, yet data from the United Arab Emirates (UAE) remain limited. This study aimed to examine the risk factors and clinical outcomes associated with young-onset stroke in the UAE.

METHODS: A retrospective chart review was conducted on 419 patients aged below 50 years who were admitted at Al Qassimi Hospital, Sharjah, UAE, with a diagnosis of stroke between 2016 and 2022. Data on demographics, comorbidities, stroke subtype, management, and outcomes were collected and analyzed using Python-based statistical libraries.

RESULTS: The study population comprised predominantly of male individuals (78.28%), with most patients originating …

Childhood Cancer Predisposition Study: A Prospective Registry And Biorepository Protocol, Melissa R Perrino, Suzanne P Macfarland, Luke Maese, Jennie Vagher, Junne Kamihara, Surya Rednam, Philip J Lupo, Garrett M Brodeur, Joshua Schiffman, Lisa Diller, Lauren Desrosiers-Battu, Sharon E Plon, Kim E Nichols, Samuel L Volchenboum, David Malkin, Anita Villani, Christopher C Porter

Faculty, Staff and Students Publications

Introduction: Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to develop cancer. There are over 100 genes associated with cancer predisposition syndromes (CPSs) and greater availability and acceptability of genetic testing in the last decade has facilitated their recognition in childhood. However, individually, each of these CPSs is rare, impeding robust research and advancement of clinical care. Once a specific CPS is …

An Online Epilepsy Self-Management Tool For Patients With Epilepsy: A Formative Usability Study, Katarzyna Czerniak, Ross Shegog, Refugio Sepulveda, Robert Addy, Youngran Kim, Sahiti Myneni, Alejandra Garcia-Quintana, Kimberly Martin, David M Labiner

Faculty, Staff and Student Publications

Background: Epilepsy is a serious chronic neurological condition with no permanent cure. Continual self-management is important to mitigate seizure frequency and optimize quality of life in people with epilepsy who have greater disparities in accessing epilepsy care. The Management Information & Decision Support Epilepsy Tool (MINDSET [UTHealth, University of Arizona, and Radiant Digital]) was developed to enhance accessibility to epilepsy self-management (ESM) assessment and treatment. The purpose of this formative usability pilot study was to assess the user experience and functionality of MINDSET 2.0, an enhanced cross-platform online version of MINDSET, among a sample of patients with epilepsy prior to …

Protocadherin 9 Promotes Cell Survival Of Different Bipolar Cell Types In The Developing Mouse Retina, Marlon F Mattos, Daniela Becerril, Jingyao Guo, Collin Todora, Cesiah C Gomez, Elizabeth Zuniga-Sanchez

Faculty, Staff and Students Publications

Neural circuit assembly relies on different neuronal types coming together to form a functional circuit. The question of how the appropriate number of each type is integrated into an emerging circuit remains relatively unknown. To answer this question, we used the mouse retina to uncover the molecular mechanisms responsible for neuron-type integration in a developing circuit. In the mammalian retina, bipolar cells (BCs) are a class of interneurons that relay visual information from photoreceptors to ganglion cells. Extensive studies have shown there are 15 distinct BC types: 6 types of OFF cone bipolars, 8 types of ON cone bipolars, and …

Larotrectinib In Trk Fusion Differentiated Thyroid Carcinoma: Updated Trial Data, Steven Waguespack, Marcia Brose, Jessica J Lin, Ray Mcdermott, Mohammed Almubarak, Jessica Bauman, Michela Casanova, Shivaani Kummar, Se-Hoon Lee, Damian Rieke, Do-Youn Oh, Changsong Qi, Natascha Neu, Domnita-Ileana Burcoveanu, Chiara Mussi, Alexander Drilon, David Hong, Maria Cabanillas

Department of Medical Oncology Faculty Papers

Larotrectinib is a first-in-class, highly selective, central nervous system-active tropomyosin receptor kinase (TRK) inhibitor approved for tumour-agnostic use in TRK fusion cancer. It has previously demonstrated rapid and durable disease control and favourable safety in patients with advanced TRK fusion thyroid carcinoma (TC). After an additional 4 years of follow-up with the inclusion of two additional patients, and utilising an independent review committee (IRC) to assess overall response rate (ORR), we report updated pooled analyses from three phase 1-2 larotrectinib clinical trials, focusing only on patients with TRK fusion differentiated TC (DTC). The primary endpoint was the IRC-determined ORR per …

Recognition Of Autism Characteristics In Females: An Examination Of Stakeholders, Laurel Lyn Bishop

Theses and Dissertations

Autism is a neurodevelopmental communication disorder, characterized by differences in social communication, attention, interests, and sensory perception. Diagnostic criteria have historically applied to males, but clinical diagnostic criteria beginning in 2022 now include slight differences in traits comprising the female phenotype. Until recently, autistic females may be missed by the professional and education community or diagnosed later than males. Like their autistic male counterparts, they face an increased risk of suicidal ideation, but they also face more difficulties in peer relationships, academic problems, and increased anxiety and depressive symptoms, but may not get supports. School-age girls spend their days with …

Decision-Making Criteria In Polygenic Embryo Screening: A Survey Of Reproductive Medicine Physicians, Rémy A Furrer, Aayushi Gandhi, Dorit Barlevy, Shai Carmi, Todd Lencz, Stacey Pereira, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Polygenic embryo screening (PES) examines embryos for their genetic likelihood of developing complex conditions and traits. The commercialization of PES places reproductive endocrinologists and infertility specialists (REIs) as the primary decision-makers in its use, despite professional guidelines cautioning that PES is not ready for clinical use.

Methods: This survey examines how 152 US REIs perceive and approach potential clinical decision-making scenarios regarding the use of PES.

Results: REIs were more likely to offer PES for medical conditions (up to 62% for cancer) than for traits (eg, 0% for skin color, 10% for body mass index). When evaluating 11 potential …

Impact Of Trisomy 21 On Post Pull-Through Enterocolitis And Bowel Function In Children With Hirschsprung Disease: A Pcplc Analysis., Marshall W. Wallace, Scott S. Short, Rachel C. Crady, Ron W. Reeder, Hira Ahmad, Kelly Austin, Andrea Badillo, Casey M. Calkins, Megan M. Durham, Julie R. Fuchs, Christopher Gayer, Julia E. Grabowski, Jamie C. Harris, Charles R. Hong, Ankur Rana, Rebecca M. Rentea, Nelson Rosen, Payam Saadai, Caitlin A. Smith, K Elizabeth Speck, Cristine S. Velazco, Richard J. Wood, Michael D. Rollins

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: We evaluated whether Trisomy 21 (T21) affected bowel management use, ability to toilet train for stool, and rates of Hirschsprung-Associated Enterocolitis (HAEC) in children with Hirschsprung disease (HD). We hypothesized that T21 would be associated with increased rates of HAEC, bowel management program (BMP) use, and delayed toilet training for stool.

METHODS: Children with HD in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database who underwent primary pull-through were included and stratified by T21 status: HD only versus HD + T21. Children requiring a redo pull-through, initially managed with a stoma, or those who had inadequate follow-up were …

Effects Of Concurrent Neuropathologies With Alzheimer Disease Neuropathologic Change On Cognitive Decline: Minimal Impact Of Vascular Brain Injury Compared With Other Combinations, Sarah M Yasuda, Charles Mock, Kathryn Gauthreaux, Kwun C G Chan, C Dirk Keene, Jessica E Culhane, Yen-Chi Chen, Walter Kukull

2020-Current year OA Pubs

We examined cognitive changes associated with several neuropathologic entities, alone and in combination. We studied 808 participants from the National Alzheimer's Coordinating Center to assess associations between neuropathologic diagnoses (from autopsy) and neuropsychologic test scores (trajectories over time for 5 domains: overall cognition, episodic memory, attention, language, executive function). Neuropathologies included: Alzheimer disease neuropathologic change (ADNC), Lewy body disease (LBD), vascular brain injury (VBI), and limbic-predominant age-related TDP43 encephalopathy neuropathologic change (LATE-NC). Using linear mixed-effects models, we examined trajectories of cognitive decline for ADNC alone compared to ADNC plus LBD, VBI, or LATE-NC. We also examined differences between observed trajectories …

Kirschner Wire Skeletal Fixation In The Hand And Wrist: Risk Of Infection And Predictors Of Progression To Major Complications, Mitchell S Mologne, Julia M Perugini, Nicholas A Calotta, Lindley B Wall, Charles A Goldfarb

2020-Current year OA Pubs

PURPOSE: Kirschner wire (K-wire) infections continue to be a challenge in hand surgery. Our purpose was to quantify the frequency of K-wire site infections of the hand and wrist, to tabulate major and minor infectious manifestations, to identify factors that may predispose a patient to major complications, and to generate an updated algorithm for prognostication and treatment of K-wire site infections.

METHODS: Patients treated with K-wires in the fingers, hand, and wrist who developed infections between 2018 and 2024 at our institution were identified. Information regarding patient factors, injury, treatment, and subsequent infectious complications was collected. Variables from single variable …

Language And Sound Exposure Across Neonatal Intensive Care Hospitalization And Relationships With Early Outcome, R Pineda, L J Woodward, Z A Vesoulis, C D Smyser, T E Inder, A M Mathur, B L Schlaggar

2020-Current year OA Pubs

OBJECTIVES: Examine relationships between quantitative measures of language and sound exposure in the NICU and infant neurobehavior.

STUDY DESIGN: Sixty-four preterm infants (≤28 weeks of gestation) had language and sound exposure measured across four time points: within two weeks of birth and at 30, 34, and 35-41 weeks postmenstrual age (PMA). Neurobehavior was assessed at 35-41 weeks PMA using the NICU Network Neurobehavioral Scales.

RESULTS: Higher average decibel levels in the NICU environment were associated with lower infant orientation scores (p = 0.04, β = -0.33). Higher peak decibel levels were associated with greater hypertonia (p = 0.01, β = …

All-Cause And Cause-Specific Mortality In Gambling Disorder: Evidence From A Nation-Wide Matched And Sibling Cohort Study In Taiwan, Yang-Chieh Brian Chen, Chih-Wei Hsu, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Edward Chia-Cheng Lai

Children’s Nutrition Research Center Staff Publications

Background and aims: Gambling disorder (GD) has been linked to suicidal ideation and suicide deaths; however, evidence on all-cause and cause-specific mortality-particularly in Asian populations-remains limited. Using a retrospective cohort study based on nationwide matched and sibling cohort, we investigated all-cause and cause-specific mortality risk in patients with GD.

Design, setting and participants: A retrospective cohort study was conducted using 2000-2022 data from Taiwan's National Health Insurance Research Database. A cohort of 961 individuals diagnosed with GD was identified. An age- and sex-matched control cohort (n = 3,844) and an unaffected sibling cohort (n = 675) were constructed. Cumulative survival …

Hyperadhesive Von Willebrand Factor Contributes To Pathogenesis Of Preeclampsia, Yajuan Wang, Chenyu Wang, Katie L Houck, Xiaoli Gao, Yuanyuan Chen, Xin Xu, Xue Zhao, Miguel A Cruz, Shu Zhang, Chester Q Li, Fengxia Xue, Min Li, Swati Shree, Jing-Fei Dong, Cha Han

Children’s Nutrition Research Center Staff Publications

Background: Preeclampsia is the most common complication of pregnancy, significantly affecting maternal and fetal health, and is characterized by placental and systemic endotheliopathy. Patients with preeclampsia have elevated levels of VWF (von Willebrand Factor), which is associated with poor clinical outcomes. However, whether VWF serves as a marker for endotheliopathy or contributes to the pathogenesis of preeclampsia remains poorly understood.

Methods: We investigated the role of hyperadhesive VWF in the development of preeclampsia by studying patients, evaluating mouse models, and performing in vitro experiments.

Results: We show that patients develop VWF- and fibrin-rich thrombosis in the placenta and have significantly …

Vitamin B6 Predicts Poor Outcomes In Geographically Distinct Populations With Primary Sclerosing Cholangitis, Peder R Braadland, Ahmad H Ali, Philip Puchas, Brian D Juran, Elizabeth J Atkinson, Erik M Schlicht, Jackie K Bianchi, Bryan M Mccauley, Sara K V Tjønnfjord, Hólmfríður Helgadottir, Per M Ueland, Arve Ulvik, Peter Sauer, Trine Folseraas, Tom H Karlsen, Mette Vesterhus, Michael T Dill, Konstantinos N Lazaridis, Johannes R Hov

Faculty, Staff and Students Publications

Background & aims: Primary sclerosing cholangitis (PSC) has a variable disease course, complicating patient counseling and the timing of liver transplantation. Vitamin B6 deficiency predicts reduced liver transplantation-free survival in Scandinavian PSC cohorts. Here, we aimed to validate this observation in US and German PSC cohorts and to expand our analyses to include hepatic decompensation as a clinical outcome.

Methods: Serum active vitamin B6 (pyridoxal 5'-phosphate [PLP]) was analyzed using liquid chromatography-tandem mass spectrometry in retrospective cohorts of people with PSC from Norway (n = 315), the USA (n = 756), and Germany (n = 149). Cox proportional hazards and …

Deep Learning-Based Comparison Of Knee Minimum Joint Space Width In Patients With Rheumatoid Arthritis And Osteoarthritis Before Total Knee Arthroplasty, Miguel M Girod, Monty Khela, Sami Saniei, Kellen L Mulford, Cassondra A Hulshizer, Elizabeth J Atkinson, Cody C Wyles, John M Davis, Gavin A Mckenzie, Cynthia S Crowson

Faculty, Staff and Students Publications

Objective: Although both osteoarthritis (OA) and rheumatoid arthritis (RA) can necessitate total knee arthroplasty (TKA), their mechanisms and radiographic patterns of joint space narrowing (JSN) differ. Deep learning (DL) enables compartment-specific measurement of minimum joint space width (mJSW). This study compared JSN patterns between patients with RA and OA undergoing TKA and evaluated the associations between mJSW and RA disease activity.

Methods: In this retrospective study, 409 patients with RA undergoing TKA (2000-2021) were age- and sex-matched with OA patients. A validated DL model quantified medial and lateral mJSW from anteroposterior knee radiographs at 2 timepoints: early (> 2 years …

Increased Risk Of Sarcomas In Children With Congenital Anomalies: Findings From The Genetic Overlap Between Anomalies And Cancer In Kids (Goback) Registry Linkage Study, Russ Wolters, Ji Yun Tark, Tiffany M Chambers, Tania A Desrosiers, Michael E Scheurer, Charles Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Yao Yu, Chad D Huff, Sharon E Plon, Philip J Lupo, Jeremy M Schraw

Faculty, Staff and Students Publications

Background: Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated.

Procedure: We obtained data on maternal and perinatal characteristics, congenital anomalies, and pediatric sarcoma diagnoses for all live births in nine states. We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95% confidence interval (CI) of sarcoma (overall and by subtype) among children with non-syndromic congenital anomalies. We considered all non-syndromic …

Cost-Effectiveness Of Hes V2.0 And Galad For Hepatocellular Carcinoma Surveillance In Patients With Cirrhosis, Mert Sahinkoc, Gizem S Nemutlu, Hashem B El-Serag, Mary Linton B Peters, Ali Hajjar, Anthony E Samir, Leigh Anne Dageforde, Fasiha Kanwal, Jagpreet Chhatwal

Faculty, Staff and Students Publications

Background: Ultrasound-based surveillance for HCC is limited by suboptimal sensitivity and low adherence. Blood-based biomarkers are potential alternatives for routine HCC surveillance. We aimed to define optimal sensitivity, specificity, and cost parameters under which blood-based biomarkers could serve as cost-effective alternatives in patients with cirrhosis.

Methods: We developed a microsimulation model of the natural history of HCC in individuals with compensated cirrhosis. We compared the cost-effectiveness of biannual surveillance using 2 blood-based biomarkers-HES V2.0 and GALAD-versus ultrasound-based surveillance across a range of sensitivity, specificity, test costs, and adherence levels. Outcomes included quality-adjusted life years (QALYs), costs, and incremental cost-effectiveness ratios …

De Novo Complex Genomic Rearrangement Spanning 2q31.1 In A Proband With Congenital Malformations: Genotype-Phenotype Correlation And Development Of A Cgr Detection Pipeline, Katherine Helle, Jesse D Bengtsson, Mira Gandhi, Christopher M Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N Jhangiani, Fritz J Sedlazeck, Seema R Lalani, Neil A Hanchard, Claudia M B Carvalho

Faculty, Staff and Students Publications

The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in-house CGR detection pipeline pairing genome sequencing (GS) structural variant calls with read-depth data revealed a de novo complex genomic rearrangement (CGR) spanning 2.7 Mb across 2q31 characterized by a series of duplications and triplications including the HOXD gene cluster. The genomic structure was assembled by applying combined methodologies including short-read and long-read GS, and optical genome mapping (OGM). This in-house …

Adamts13 And Von Willebrand Factor In Relation To Vascular Cognitive Impairment And Cerebral Small Vessel Disease: The Heart-Brain Connection Study, Amos C Pomp, Mathijs T Rosbergen, Moniek P M De Maat, Paul S De Vries, M Arfan Ikram, Mat J A P Daemen, Imo E Hoefer, Wiro J Niessen, Jeroen De Bresser, Esther E Bron, Charlotte E Teunissen, Geert Jan Biessels, Robert J Van Oostenbrugge, Frank J Wolters

Faculty, Staff and Student Publications

Background: Reduced activity of a disintegrin-like and metalloprotease with thrombospondin type 1 repeats 13 (ADAMTS13) is associated with an increased risk of dementia, independent of Von Willebrand factor (VWF) levels. Pathways underlying this association remain poorly understood.

Objectives: Investigate the associations of VWF levels and ADAMTS13 activity with vascular cognitive impairment (VCI) and cerebral small vessel disease (CSVD).

Methods: In this cross-sectional study, we included 147 participants with VCI and 120 reference subjects (mean age: 67.5 years, 41% women). Using multivariable logistic regression, we determined the cross-sectional association of ADAMTS13 activity and VWF levels in plasma with VCI. Additionally, across …

The Crisis Of Adolescent Firearm Reinjury: A 14-Year Retrospective Cohort Analysis, Kristen L Mueller, Daphne Lew, Nicholas Szoko, Zoe M Miller, Taylor Kaser, Benjamin P Cooper, Christopher Behr, Lindsay Clukies, Joseph Finney, Marguerite W Spruce, Lindsay M Kranker, Michael A Mancini, Melissa Kroll, Erin G Dawson, Matt Vogel, Rachel M Ancona, Vicki Moran, Melik Coffey, Kateri-Chapman Kramer, Doug J E Schuerer, Elvin Geng, Megan L Ranney, Randi E Foraker

Faculty, Staff and Students Publications

Background: Firearm injuries are the leading cause of death among US adolescents. Adolescents are among the highest risk, and those with nonfatal injuries experience high rates of reinjury. Identifying factors that predict firearm reinjury among adolescents may support tailored prevention strategies. This study sought to identify factors associated with firearm reinjury among adolescents who presented with acute nonfatal firearm injury in the St. Louis, Missouri region.

Methods: We conducted a multicenter observational cohort study of youth aged 15 to 17 years presenting to 2 adult and 2 pediatric trauma centers from 2010 through 2023. We collected data on firearm-injured patient …

Long-Term Outcomes In Seronegative Rheumatoid Arthritis, Bradly A Kimbrough, Roslin Jose George, Cynthia S Crowson, Sara J Achenbach, Elizabeth J Atkinson, Vanessa L Kronzer, John M Davis, Elena Myasoedova

Faculty, Staff and Students Publications

Objective: The purpose of this study was to determine the cumulative incidence of diagnosis switching, drug-free remission, and initiation of a biologic or targeted synthetic disease-modifying antirheumatic drug (b/tsDMARD) in individuals with seronegative rheumatoid arthritis (RA).

Methods: Adult residents of Olmsted County, Minnesota, with incident seronegative (rheumatoid factor negative/anti-cyclic citrullinated peptide antibody negative) RA meeting the 1987 and/or 2010 American College of Rheumatology classification criteria were included. Data were collected from January 1, 2005, to December 31, 2023, through manual chart review. Drug-free remission was defined as a period of at least six months where the individual was no longer …

Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione

Faculty, Staff and Students Publications

Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.

Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.

Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …

Leveraging Administrative Health Data To Capture Rare Adverse Drug Reactions: Identifying Pediatric Patients With Trimethoprim-Sulfamethoxazole Acute Respiratory Distress Syndrome., Keith Feldman, Jenna Miller, Katherine Doane, Laura Loftis, James W. Antoon, Kevin J. Downes, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

Rare adverse drug reactions (ADRs) are underrecognized and underreported in the electronic medical record (EMR). These events often require clinical review, making systematic identification challenging. The study aim was to develop an approach to prioritize identification and validation of a rare ADR to trimethoprim-sulfamethoxazole causing acute respiratory distress syndrome (TMP-SMX ARDS) across medical institutions. We developed a clinical phenotype based on 2 local TMP-SMX ARDS cases mapped to standardized elements of a national comparative healthcare database (PHIS). We validated identification of TMP-SMX ARDS at scale across medical institutions. A set of scoring criteria was created to prioritize cases and generate …

A Cooking Skills Intervention For Long-Term Weight Loss In Young Adults With Intellectual Disabilities: Rationale And Design For A Randomized Trial., Lauren T. Ptomey, Jessica C. Danon, Delwyn Catley, Richard A. Washburn, Amy Bodde, Francisco J. Diaz, Brian C. Helsel, Anna M. Rice, Joseph R. Sherman, Madison Koester, Walker S. Mckinney Ph.D., Joseph E. Donnelly

Manuscripts, Articles, Book Chapters and Other Papers

Young adults with intellectual disability (ID) are an underserved population with a high prevalence of obesity, obesity-related health conditions, and reduced ability to complete instrumental and basic activities of daily living (I/ADLs). After leaving the structured environment of public school, many young adults with ID spend more time at home or in day programs, begin living more independently, or enter the workforce. These transitions may increase reliance on fast or processed foods and reduce opportunities for physical activity, contributing to accelerated weight gain. Previous research has demonstrated clinically meaningful short- and long-term weight loss (18-24 months) in adults with mild-to-moderate …