Medical Specialties Commons^™

Spatial Transcriptomics Reveals Coordinated Endothelial And Epithelial Activator Protein-1 Activation In Chronic Lung Allograft Dysfunction, Andrew S Potter, Igor Odintsov, Kapil Patel, Nicole Davis, Stefi Lee, Amit Gaggar, Ivan Rosas, Gabriel Loor, Don Hayes, Nirmal S Sharma

Faculty, Staff and Students Publications

Chronic lung allograft dysfunction (CLAD) limits long-term lung graft survival, yet its specific gene expression profiles remain unclear. We performed comprehensive spatial transcriptomic analyses of human lungs from CLAD patients, non-CLAD transplant recipients, and non-transplanted controls. In CLAD, AP-1 target genes, including JUNB and FOS, were significantly upregulated in both the epithelium and endothelium, whereas anti-fibrotic genes such as A2M and surfactant proteins (SFTPA1,2) were upregulated in non-CLAD. The lymphocyte population in CLAD was predominantly composed of T cells, with elevated JAK3-IL7R signaling. TNF and IL-17 signaling pathways were commonly activated in both the epithelium and endothelium, with JUNB and …

Polygenic Risk Scores And Hla Class Ii Variants Are Biomarkers Of Corticosteroid Response In Childhood Nephrotic Syndrome., Tiffany Tu, Alejandro Ochoa, Amika Sood, Ashley Dabrik, Megan Chryst-Stangl, Brandon Lane, Guanghong Wu, Frank Donovan, Ursula Harper, Settara Chandrasekharappa, Christopher Esezobor, Adaobi Solarin, David Hooper, Christine Sethna, Sandra Amaral, Mahmoud Kallash, Michelle Rheault, Priya Verghese, Vikas Dharnidharka, Eloise Salmon, Patricia Weng, Tarak Srivastava, Michael E Seifert, Cozumel Pruette, David Selewski, Keisha Gibson, Tracy Hunley, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arvind Bagga, Aditi Sinha, Nicholas Webb, Larry Greenbaum, Ali Gharavi, Krzysztof Kiryluk, Matthias Kretzler, Lisa Guay-Woodford, Simone Sanna-Cherchi, Agnieszka Bierzynska, Ania Koziell, Gavin Welsh, Moin Saleem, Charles Rotimi, Eileen Chambers, Cliburn Chan, Curegn Consortium, Pnrc Glomerular Disease Group, Cibmtr/Nmdp Consortium, Annette Jackson, Adebowale Adeyemo, Rasheed Gbadegesin

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Nephrotic syndrome (NS), a common glomerular disease in children, is classified based on response to corticosteroid therapy as either steroid-sensitive nephrotic syndrome (SSNS), or steroid-resistant nephrotic syndrome (SRNS). However, there are no current reliable predictors of therapy response at initial clinical presentation.

METHODS: To evaluate predictors, we conducted genome-wide association studies, developed polygenic risk scores (PRS) for therapy response and analyzed classical HLA alleles in 1,997 children (994 discovery and 1,003 replication/validation cohorts) previously unstudied children with NS and 3,558 ancestry-matched control individuals.

RESULTS: A significant association with HLA loci defined by variants in HLA-DQB1, HLA-DRB1, and HLA-DQA1 were …

Infection Prevention And Control Of Candida Auris In Pediatric Settings, Thomas S. Murray, Hana Hakim, Christelle Ilboudo, Lynn Ramírez-Ávila, Jana Shaw, Terri Stillwell, Patricia Budo, Bernard Ebruke, Noa Fleiss, Amanda Green, Matthew Linam, Roshni Mathew, April Mcdougal, Natalie Neu, Zoi Dorothea Pana, Karen Ravin, Ayelet Rosenthal, Jane D. Siegel, Katlyn Steimel, Amy Valencia, Carol Vance, Lars F. Westblade, Lisa Saiman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Candida auris (also referred to as Candidozyma auris) is an emerging multidrug-resistant fungal pathogen associated with high morbidity and mortality. Existing infection prevention and control (IPC) guidance has largely focused on adult populations, with limited recommendations for pediatric healthcare and non-healthcare settings.

METHODS: The Society for Healthcare Epidemiology of America (SHEA) convened a multidisciplinary expert panel to develop IPC recommendations for C. auris. The panel developed recommendations using a structured, iterative Delphi consensus process with rounds of discussion, refinement, and anonymous electronic voting with predefined consensus thresholds. Panelists reviewed relevant peer-reviewed and gray literature integrated with expert …

The Effect Of Vigorous Physical Activity On The Incidence Of Kidney Cancer, Lawrence H. Kim, Bang, Daniel Galvao, David P. Smith, Manish I. Patel

Research outputs 2022 to 2026

Background: Kidney cancer incidence is increasing. While physical activity can reduce the risk of several cancers, the role of vigorous physical activity (VPA) in kidney cancer prevention remains unclear. We examined associations between physical activity intensity and kidney cancer incidence in a large Australian cohort. Methods: Data were obtained from 267,357 adults aged ≥ 45 years in the New South Wales 45 and Up Study. Physical activity, including walking, moderate physical activity (MPA), and VPA, was self-reported at baseline using the validated Active Australia Survey and categorised according to WHO guidelines. Multivariable Cox proportional hazards models estimated hazard ratios and …

Steroid Receptor Coactivators In Immunity – From Function To Emerging Translational Opportunities

Faculty, Staff and Students Publications

Steroid Receptor Coactivators (SRCs) comprise a family of three paralogous proteins. As transcriptional coactivators SRCs are essential for enabling the full transcriptional output of nuclear receptors (NRs). They regulate the transcriptional activity of nearly all NRs as well as a wide range of non-NR transcription factors. The central role of SRCs in gene regulation is reflected in their broad impact on major physiological and pathological processes, such as development, reproduction, metabolism, immunity and cancer. Although the major impact of SRCs on human health and disease established them as attractive therapeutic targets, their effective pharmacological targeting remained a challenge for nearly …

Mindful Self-Compassion To Reduce Pain Interference Among Adults With Osteogenesis Imperfecta, Corien Peeters, Adam Khalif, V Reid Sutton, Frank Rauch, Brendan Lee, Eric A Storch, Marie-Eve Robinson

Faculty, Staff and Students Publications

Between 60 and 80% of adults with osteogenesis imperfecta (OI) experience chronic pain and associated interference. Currently available pain therapies often provide marginal efficacy. Mindful self-compassion (MSC) has emerged as a promising intervention for coping with chronic pain. We conducted a single-center 8-week pilot intervention study to assess the feasibility and acceptability of a MSC program among adults with OI and co-occurring chronic pain. Individuals attended the validated MSC course consisting of 8 weekly virtual 2-h sessions. Participants completed a battery of validated questionnaires assessing pain, various aspects of well-being, and physical function at baseline and post-intervention. Participants wore the …

Author Correction: Biallelic Variants In The Noncoding Rna Gene Rnu4-2 Cause A Recessive Neurodevelopmental Syndrome With Distinct White Matter Changes, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E Mcginnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G Macarthur, Cas Simons, Nicola Whiffin

Faculty, Staff and Students Publications

No abstract provided.

Disease-Specific Growth Charts Capture Characteristic Growth Patterns In Children With Pmm2 – Cdg, Andrea Miller, Rodrigo T Starosta, Aziza Zeighami, Seishu Horikoshi, Hayden Vreugdenhil, Fernando Scaglia, Tamas Kozicz, Queenie K G Tan, Bradley S Miller, Iván Martínez-Duncker, Gerard T Berry, Peter Mcwilliams, Eva Morava, Yaw Addo

Faculty, Staff and Students Publications

Background: Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited. Growth and weight patterns of PMM2-CDG children differ from the general population limiting the utility of existing normative growth charts to track development trajectory in comparison to peers with PMM2-CDG.

Objective: Create PMM2-CDG disease-specific height-, weight-, and BMI-for-age reference growth charts (0-20 years).

Methods: De-identified growth data was provided by Frontiers in Congenital Disorders of Glycosylation Consortium, CDG Care, Minnesota Partnership for Biotechnology and Medical Genomics, and Glycomine, Inc. Semi-parametric modeling techniques were used to develop PMM2-CDG-specific …

Transient Yap Activation Uncovers The Neurogenic Potential Of Proliferative Mammalian Müller Glia, Xuefei Tong, Justin S Dhindsa, Borna Sarker, Ayrea E Hurley, Paul G Swinton, William R Lagor, Nicholas M Tran, James F Martin, Ross A Poché

Faculty, Staff and Students Publications

The Hippo pathway effector YAP promotes spontaneous proliferation of Müller glia (MG), suggesting that bypassing Hippo signaling and activating YAP could enhance retinal regeneration. However, whether proliferative adult MGs retain meaningful neurogenic competence remains unclear. Here, using viral delivery of a Hippo-resistant YAP variant to wild-type adult MGs, we achieved transient YAP activation in adult MGs, inducing proliferation followed by cell-cycle withdrawal and differentiation. Intersectional genetic lineage tracing and EdU labeling, combined with transcriptomic analyses, revealed that YAP-activated MGs predominantly regenerate MGs, whereas only a subset gives rise to bipolar cell-like neurons. These results indicate that proliferative MGs acquire a …

Human Neuronal Firing Varies With The Frequency Of Local Field Potential Oscillations, Melissa C Franch, Danika L Paulo, Mohammed Hasen, Nicole R Provenza, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli, Andrew J Watrous

Faculty, Staff and Students Publications

Neural oscillations play a critical role in shaping neuronal firing patterns. While phase-locked neuronal firing ("phase tuning") has been extensively studied in animal models and human invasive recordings, much less is known about whether neurons show preferential firing at specific oscillatory frequencies, termed frequency tuning. Here, we employ human intracranial recordings across several brain regions including hippocampus, entorhinal cortex, anterior and posterior cingulate cortex, and orbitofrontal cortex to test the hypothesis that neurons exhibit frequency-specific firing. We analyzed 357 single units recorded simultaneously with local field potentials in 19 neurosurgical patients during awake resting. We estimated the instantaneous frequency of …

Comprehensive Proteogenomic Characterization Reveals Clinically Relevant Molecular Subtypes Associated With Medulloblastoma Progression, Fulvio D'Angelo, Seung Ah Choi, Chan Il Kim, Harim Koo, Seungmin Park, Hyondeog Kim, Sreeja Sundara Raj, Sung Soo Kim, Ae Kyung Park, Eun Jung Koh, Seong-Ik Kim, Yu-Mi Shim, Lee Kwang-Hoon, Eric Eunshik Kim, Ji Hoon Phi, Yeon Suk Jo, Do Hyun Nam, Daehee Hwang, Do Young Hyeon, Sunghyun Huh, Hyung Joon Kwon, Seokjun Ha, Sanha Park, Hyeji Shin, Jeong Taik Kwon, Heon Yoo, Ho-Shin Gwak, Michael D Taylor, Bong Jin Park, Jason K Sa, Youngwook Kim, Antonio Iavarone, Sung-Hye Park, Seung-Ki Kim, Jong Bae Park

Faculty, Staff and Students Publications

Current treatment strategies for medulloblastoma remain ineffective owing to extensive tumor heterogeneity. We generated five platforms of omics data including liquid chromatography and mass spectrometry-based proteome and performed integrated multi-omic characterization to improve the conventional molecular classification of medulloblastoma. We identified seven refined distinct subtypes. The sonic hedgehog (SHH) group was reclassified into two subgroups, SHHα and SHHβ, whereas group 4 was divided into three subgroups, G4α, G4β, and G4γ. SHH and group 4 subtypes exhibit two distinct neuronal differentiation trajectories: granular neuron and unipolar brush cell differentiation (SHHβ and G4γ, respectively), both of which associated with more favorable clinical …

Hematologic Markers And Machine Learning In Predicting Placenta Accreta: A Case-Control Study, Victoria Zhang, Sanmay Sarada, Brian Burnett, Christina C Reed, Karin A Fox, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hennie A Lombaard

Faculty, Staff and Students Publications

Objective: This study aims to enhance antenatal detection of placenta accreta spectrum (PAS) and predict severe hemorrhage at delivery using machine learning by evaluating the association between antenatal hematologic index trends across trimesters, imaging markers, and patient history.

Methods: We retrospectively analyzed 2017-2023 data from a PAS referral center, including demographics, laboratory results, ultrasounds, and outcomes. Patients with confirmed PAS (cases) were compared to those with antenatal risk but no histopathologic evidence of PAS (controls). Statistical analyses and machine learning models were developed to predict PAS. We also used machine learning to predict severe hemorrhage (>1500 mL) in the …

Fetal Instability And Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis Of 245 Fetal Cardiac And Spina Bifida Procedures, Rebecca M Johnson, Carolyn A Altman, Michael A Belfort, Luc Joyeux, Alice King, David G Mann, Shaine Morris, Athar M Qureshi, Magdalena Sanz Cortes, William E Whitehead, Caitlin D Sutton

Faculty, Staff and Students Publications

Objective: The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management.

Methods: We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our institution between March 2012 and April 2025. We described and compared the frequency, timing, etiology, and management of fetal instability.

Results: During the study period, 28 unique patients underwent 35 FASI procedures, and 210 patients underwent fMMC repair. Fetal instability occurred in 51 of 245 cases (20.8%), with rates varying significantly by procedure type …

A Randomized Double-Masked Study Evaluating Safety And Efficacy Of A Novel Topical Cooling Device For Chronic Ocular Surface Pain, Jayne Weiss, Stephen Pflugfelder, Preeya Gupta, Deepinder Dhaliwal, Laura Periman, Bonnie An Henderson, Thanh T Nguyen, Chameen Samarawickrama, Helen Wu, Tomasz Stryjewski, James A Stefater, Mark Hinds, Pooja Bhindi, Cristos Ifantides

Faculty, Staff and Students Publications

Introduction: No therapy is currently FDA approved to treat ocular pain. This study evaluated the safety and efficacy of a novel topical ocular cooling device for chronic ocular surface pain (COSP).

Methods: This was a prospective, randomized, double-masked, multicenter clinical feasibility study in adults aged 22-90 years with COSP. The intervention was a handheld device that applied cold temperatures to the conjunctival surface above the long ciliary nerves via two metallic contact surfaces at the 3 and 9 o'clock positions. Subjects were randomized 2:1 to a one-time, 4-min treatment with the active (frozen) or sham (refrigerated) device and followed for …

Investigating The Correlation Between Scleral Spur Angle And Intraocular Lens Tilt, Douglas D Koch, Allison J Chen, Mitchell P Weikert

Faculty, Staff and Students Publications

Purpose: To evaluate the correlation between the preoperative vertex-scleral spur angle (Vtx-SSA) and postoperative horizontal intraocular lens (IOL) tilt after routine cataract surgery.

Setting: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

Design: Prospective case series.

Methods: This study enrolled patients who underwent uneventful phacoemulsification cataract extraction with IOL implantation. The Anterion and Eyestar 900 swept-source optical coherence tomographers (SS-OCTs) were used to determine Vtx-SSA and lens tilt (crystalline and IOL) measurements, respectively. Tilt vectors were decomposed into orthogonal, vertical, and horizontal components to explore preoperative correlations independently. The Pearson correlation coefficient and linear regression analysis were used to …

Thrive: A Phase 3, Randomized, Double-Masked, Placebo-Controlled Study Of Veligrotug For Active Thyroid Eye Disease, Steven Leibowitz, Raghu C Mudumbai, Michael P Schittkowski, Vickie Lee, Jody Abrams, Roger E Turbin, Julián Bermúdez Pío-Rendón, Eckart Bertelmann, Edwina Eade, Navdeep Nijhawan, Marta Pérez-López, Marco Sales-Sanz, Sandy Zhang-Nunes, Andrea L Kossler, Ashley Pajak, Abhijit Narvekar, Radhika Tripuraneni, Antonio Manuel Garrido-Hermosilla

Faculty, Staff and Students Publications

Purpose: Thyroid eye disease (TED) is a debilitating autoimmune disease with significant unmet needs. This study's objective was to assess the efficacy and safety of veligrotug, a full antagonist monoclonal antibody to the insulin-like growth factor-1 receptor, in patients with active TED.

Design: Veligrotug was assessed in THRIVE, a global, multicenter, randomized, double-masked, placebo-controlled phase 3 trial.

Participants: Adult patients with moderate-to-severe active TED (onset ≤ 15 months, proptosis ≥ 3 mm above normal, and clinical activity score [CAS] ≥ 3) received either veligrotug or placebo.

Methods: Patients were randomized 2:1 to receive 10 mg/kg veligrotug or placebo administered every …

Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek

Faculty, Staff and Students Publications

No abstract provided.

Extracorporeal Membrane Oxygenation, Acute Kidney Injury, Fluid Balance, And Continuous Renal Replacement Therapy: Acute Disease Quality Initiative (Adqi) And Extracorporeal Life Support Organization (Elso) Joint Consensus Conference, Ayse Akcan-Arikan, Gail Annich, Marta V Antonini, David Askenazi, Linda Awdishu, Brian C Bridges, Michael J Connor, Lui G Forni, Dana Y Fuhrman, Stuart L Goldstein, Stephen M Gorga, Pramod K Guru, Ahmad Kaddourah, Alex Lepage-Farrell, D Michael Mcmullan, Ravindra L Mehta, Shina Menon, Theresa Mottes, Thomas Müeller, Marlies Ostermann, Matthew L Paden, Natalie E Rintoul, Thiago Reis, Claudio Ronco, Emily See, Gurmeet Singh, Sean M Bagshaw, Graeme Maclaren

Faculty, Staff and Students Publications

Extracorporeal membrane oxygenation (ECMO) is increasingly being utilized for life-threatening cardiac and/or respiratory failure refractory to conventional treatment. Acute kidney injury (AKI) and fluid balance disorders commonly occur both before and during ECMO, with approximately half of cases receiving treatment with continuous renal replacement therapy (CRRT). Acute kidney injury, fluid balance disorders, and CRRT influence both short- and long-term outcomes in this population. The 36th Acute Disease Quality Initiative (ADQI) meeting was held in June 2025 to develop multidisciplinary international expert recommendations for AKI, fluid balance, and CRRT during ECMO across the age spectrum. This work encompassed five working groups: …

Classification Of Gck-Mody In A Child With Mild Hyperglycemia And Islet Autoantibody Positivity: A Diagnostic Challenge, Mustafa Tosur, Colleen O Jodarski, Jennifer J Bell

Faculty, Staff and Students Publications

We report a 9-year-old female who presented with mild, persistent hyperglycemia, with hemoglobin A1c and oral glucose tolerance test results in the prediabetes range, relatively preserved C-peptide, and mildly positive glutamate decarboxylase 65 autoantibody levels. A strong family history of lean, noninsulin-dependent diabetes suggested a possible monogenic cause. Genetic testing with a 28-gene maturity-onset diabetes of the young (MODY) panel identified a heterozygous variant of uncertain significance in GCK (NM_000162.5:c.179C>T [p.Thr60Ile]). Following review by the ClinGen Monogenic Diabetes Variant Curation Expert Panel, the GCK variant was reclassified as pathogenic, confirming a diagnosis of glucokinase (GCK)-MODY/GCK-hyperglycemia, a stable …

Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.

Outcomes After Elective Total Aortic Arch Replacement: Does Obesity Matter?, Veronica A Glover, Susan Y Green, Subhasis Chatterjee, Scott A Lemaire, Marc R Moon, Joseph S Coselli

Faculty, Staff and Students Publications

Objective: Obesity is a chronic disease linked to high mortality and morbidity after cardiac procedures, but its relationship to outcomes after total aortic arch replacement (TAR) remains unclear. We examined TAR data to determine whether obesity is associated with greater perioperative risk.

Methods: Among 787 TARs performed from 1990 to 2023, we excluded patients who lacked body mass index (BMI) data, had nonelective or nonstandard repairs, or were underweight (BMI < 18.5 kg/m2). The remaining 521 patients did not have obesity (18.5 ≤BMI < 30; n = 389) or did (BMI ≥30; n = 132). Patients with obesity were class 1 (30 ≤ BMI < 35), class 2 (35 ≤ BMI < 40), or class 3 (BMI ≥40). We compared preoperative and perioperative variables for BMI ≥30 (obesity) versus BMI < 30. Adverse events were operative mortality, persistent stroke, spinal cord deficit, and renal failure. We performed multivariable logistic regression and Kaplan-Meier survival analysis.

Results: Patients with obesity had greater rates of obstructive sleep apnea, transient spinal cord deficit, and acute renal dysfunction than patients with normal weight. During repair, the use of antegrade …

Validation Of The Immune-Mediated Colitis Endoscopic Score Using A Retrospective Cohort Of Patients With Immune-Mediated Colitis, Andres Caleb Urias Rivera, Kian Abdul-Baki, Kei Takigawa, Tanvi Gupta, Elliot Baerman, Linfeng Lu, Irene Jeong-Ah Lee, Hamza Salim, Raakhi Menon, Andrew Sullivan, Varun Vemulapalli, Cristina Natha, Ayesha Khan, Petros Grivas, David Faleck, Michael Dougan, Anusha Shirwaiker Thomas, Yinghong Wang

Faculty, Staff and Students Publications

Background and aims: Immune-mediated colitis (IMC) is a challenging adverse effect of immune checkpoint inhibitor therapy, often leading to treatment interruption or discontinuation. Current IMC endoscopic scoring systems were adapted from those used for inflammatory bowel disease but fail to fully capture IMC. The newly proposed IMC endoscopic score (IMCES) seeks to help guide prognosis and treatment. We aimed to validate IMCES and explore its association with IMC clinical severity and outcomes.

Methods: This single-center retrospective study included patients with IMC who received immune checkpoint inhibitors and underwent endoscopic evaluation. IMCESs were calculated on the basis of 10 gross endoscopic …

Treatment Of Obsessive-Compulsive Disorder Via Mental Health Technology

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder that remains chronic unless intervened with evidence-based intervention. Cognitive behavioral therapy (CBT) with exposure and response prevention is the gold-standard psychological intervention for OCD, but many individuals do not receive this intervention due to barriers to accessing treatment. Mental health technology tools such as telehealth, computerized programs, internet-delivered CBT, and mobile applications have been adopted to expand the accessibility of CBT. An up-to-date summary of the evidence base of technology-mediated formats of CBT for OCD treatment is provided. Clinical benefits offered by such approaches, current limitations, and future research directions are discussed.

Corrigendum To “Establishing A Training Plan And Estimating Inter-Rater Reliability Across The Multi-Site Texas Childhood Trauma Research Network” [Psychiatry Research 323 (2023) 115168], Nazan Aksan, Carly Hatchell, D Jeffrey Newport, Karen Dineen Wagner, Eric A Storch, Cynthia Claassen, Amy Garrett, Irma T Ugalde, Wade Weber, Charles B Nemeroff, Paul J Rathouz

Faculty, Staff and Students Publications

No abstract provided.

Letter To The Editor Regarding “Questionable Indication For Postoperative Radiotherapy After Surgery For Metastases Of The Major Long Bones”: A Cautionary Note On Methodology And Analysis, Dirk Rades, Eva Oldenburger, Tracy A Balboni, Daniel E Roos, Hans Kreder, Eric L Chang, Samuel Ryu, Amal Khoury, Kristopher Dennis, Candice Johnstone, Sara R Alcorn, Charles B Simone, Stephanie Brown, Jonas Willmann, Joanne M Van Der Velden, Mateusz Spałek, Yvette M Van Der Linden, Joanna Kazmierska, Nicolaus Andratschke, Emily J Martin, Michael Chao, Hany Soliman, Kenny Kwan, Raymond C H Yau, Shengji Yu, Zhenfeng Li, Albert Yee, Ningning Lu, Xinxin Zhang, Gavin P Jones, W L Chan, Adrian W Chan, Chung Ming Chan, Agata Rembielak, Gustavo N Marta, Vassilios Vassiliou, Saverio Caini, Edward Chow, Henry C Y Wong

Faculty, Staff and Students Publications

No abstract provided.

The Who Classification Of Genetic Tumour Syndromes: Considerations For Histopathology, Erika Re Denton, Anthony J Gill, Alexander J Lazar, Ian M Frayling, Stefan M Pfister, Mark A Rubin, Katia Rm Leite, Raymond Dalgleish, Elspeth A Bruford, Sharon Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman-Lévy, Harshima Wijesinghe, William D Foulkes, Dilani Lokuhetty

Faculty, Staff and Students Publications

No abstract provided.

Hospice Enrollments From The Emergency Department Feature Short Admissions And High-Acuity Hospice Care, Lin Shen, Isaac S Chua, Claire K Ankuda, Haiden A Huskamp, Hojjat Salmasian, Joan M Teno, David W Bates

Faculty, Staff and Students Publications

Medicare beneficiaries frequently visit the emergency department (ED) at the end of life, but little is known about the epidemiology of patients admitted to hospice from the ED. We used 100 percent Medicare fee-for-service claims from the period 2018-20 to describe the frequency of direct ED-to-hospice enrollments, associated patient and hospice agency characteristics, and patient outcomes. In this sample, 4.3 percent of initial enrollments in hospice originated from the ED. ED-to-hospice admissions featured short lengths-of-stay (21.7 percent were two days or less) and high rates of general inpatient level of care at the time of enrollment (23.6 percent). The 10 …

Mitf Gain-Of-Function Mutation In Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance, Ludimila Cavalcante, Veronica Rodriguez-Bravo, Josep Domingo-Domenech, Thomas Westbrook

Faculty, Staff and Students Publications

Background: Prostate cancer is the most common non-cutaneous malignancy in men and remains a leading cause of cancer-related mortality, particularly in aggressive variants. These tumors are usually associated with alterations in TP53, RB1, and PTEN. The microphthalmia-associated transcription factor (MITF) has been implicated in several malignancies, but its role in prostate cancer is less defined.

Case: We report the first case of metastatic prostate adenocarcinoma harboring a gain-of-function MITF E318K mutation. The patient presented with high tumor burden, rapid progression, and evidence of tumor heterogeneity. The E318K mutation, previously linked to melanoma and renal cell carcinoma, enhances MITF transcriptional activity …

Corneal Innervation Research At A Crossroads: A Tool-Driven Roadmap For The Future, Stephen C Pflugfelder, Anat Galor, Victor L Perez, Elizabeth R Felix, Pedram Hamrah, Pantelimon Rompolas, Raul E Ruiz-Lozano, Shamsuddin A Bhuiyan, Kaveh Moghbeli, Evangelia Semizoglou, William Renthal, Harinder Singh, Jishnu Das, Marcin Golczak, Mary Ann Stepp, Catherine W Morgans, Cintia S De Paiva, Carl Y Saab, Igor Spigelman, Rony R Sayegh, Tally M Largent-Milnes, Hao Wu, Wenqin Luo, Sreya Mitra, Heesuk Yoo, Sina Farsiu, Sejiro Littleton, Eden Jacob, Matthew T Mcpheeters, Maryse Lapierre-Landry, Jordan J Smith, Xi Wang, Roxana Florea, Made Airanthi K Widjaja-Adhi, Scott Holmes, Zane Zemborain, Kate E T Laise, Nicholas J Pondelis, Ki-Soo Jeong, Rui Chen, Michael W Jenkins, Vivian Lee, Eric A Moulton, Deborah S Jacobs, Sue A Aicher, Anthony J St Leger, Daniel R Saban

Faculty, Staff and Students Publications

Corneal innervation research has faced long-standing clinical challenges that only recent technological breakthroughs now make tractable. Advances in single-cell analysis, viral vectors, clinical imaging, and artificial intelligence provide integrated approaches for uncovering molecular mechanisms underlying functional outcomes and facilitating clinical applications. The National Eye Institute's U01-funded consortium on ocular surface innervation addresses major knowledge gaps in characterizing corneal-projecting neurons, understanding neuroimmune and epithelial interactions in the cornea, and translating animal model findings to human pathology. The unique properties of the cornea (transparent, avascular, and densely innervated) make it ideal for neurobiology research on peripheral and central sensory processing. Through a …

Genetic Testing For Familial Epilepsies: Diagnostic Yield And Genetic Findings, Karen L Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle Decampo, Holly Dubbs, Natalie Ginn, Alicia G Harrison, Naomi Lewin, Laina Lusk, Eric D Marsh, Shavonne L Massey, Pamela Pojomovsky Mcdonnell, Jillian L Mckee, Xilma Ortiz-Gonzalez, Anna J Prentice, Katie Rose Sullivan, Sarah M Ruggiero, Mark P Fitzgerald, Ethan M Goldberg, Ingo Helbig

Faculty, Staff and Students Publications

Objective: Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.

Methods: This was a retrospective cohort study of genetic testing performed at pediatric and adult epilepsy genetics clinics. Eligible patients (probands) had epilepsy and one or more first-degree relatives or two or more other relatives with epilepsy. Genetic testing strategies were patient specific, reflecting real-world clinical practice. Familial patterns were classified based on affected relatives of the proband. Diagnostic variants were tested …