Digital Commons Network^™

Mutations In The Key Autophagy Tethering Factor Epg5 Link Neurodevelopmental And Neurodegenerative Disorders Including Early-Onset Parkinsonism, Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D Clark, Jill A Rosenfeld, Carrie A Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi-Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M C Van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad Elghazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi-Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié-Bitach, Pauline Marzin, Dorota Wicher, Jessica I Gold, Elisabeth Schuler, Amna Kashgari, Rakan F Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H G Monje, Dimitri Krainc, Niccolò E Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R Lupski, Manju A Kurian, Jörg Dötsch, Jürgen-Christoph Von Kleist-Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi-Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth

Faculty, Staff and Students Publications

Objective: Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early-onset neurodevelopmental disorder with extensive multisystem involvement. Here, we aimed to delineate the extended, age-dependent EPG5-related disease spectrum.

Methods: We investigated clinical, radiological, and molecular features from the largest cohort of EPG5-related patients identified to date, complemented by experimental investigation of cellular and animal models of EPG5 defects.

Results: Through worldwide collaboration, we identified 211 patients, 97 …

Coco-St Detects Global And Local Biological Structures In Spatial Transcriptomics Datasets, Muhammad Aminu, Bo Zhu, Natalie Vokes, Hong Chen, Lingzhi Hong, Jianrong Li, Junya Fujimoto, Mehdi Chaib, Yuqiu Yang, Bo Wang, Alissa Poteete, Monique B Nilsson, Xiuning Le, Tina Cascone, David Jaffray, Nicholas Navin, Tao Wang, Lauren A Byers, Don L Gibbons, John Heymach, Ken Chen, Chao Cheng, Jianjun Zhang, Jia Wu

Faculty, Staff and Students Publications

Spatial domain detection methods often focus on high-variance structures, such as tumour-adjacent regions with sharp gene expression changes, while missing low-variance structures with subtle gene expression shifts, like those between adjacent normal and early adenoma regions. Here, to address this, we introduce ‘compare and contrast spatial transcriptomics’ (CoCo-ST), a graph contrastive feature representation framework. By comparing a target sample with a background sample, CoCo-ST detects both high-variance, broadly shared structures and low-variance, tissue-specific features. It offers technical advantages, including multisample integration, batch-effect correction and scalability across technologies from spot-level Visium data to single-cell Xenium Prime 5K and subcellular Visium HD …

Inhibition Of Bmper Mitigates Pulmonary Hypertension By Modulating Lrp1-Yap Interaction In Smooth Muscle Cells, Hua Mao, Claire M Li, Bing Sun, Christopher S Ward, Alan R Waich-Cohen, Ivan O Rosas, Howard J Huang, Harry Karmouty-Quintana, Liang Xie, Lavannya M Pandit, Xinchun Pi

Faculty, Staff and Students Publications

Background: BMPER (bone morphogenetic protein-binding endothelial regulator) is a secreted protein that is highly expressed in endothelial cells. It regulates the BMP (bone morphogenetic protein) pathway during vascular development and adulthood. Mutations in the BMP pathway are recognized as risk factors for pulmonary arterial hypertension group 1 pulmonary hypertension (PH). However, the roles of BMPER in pulmonary arterial hypertension remain unknown.

Methods: We assessed BMPER expression in Group 1 pulmonary arterial hypertension patient samples and examined its role in vascular remodeling using in vivo and in vitro approaches.

Results: BMPER level was elevated in pulmonary arterial hypertension lungs and significantly …

Centrally Inserted Central Catheter Placement Using A Novel, Handheld, Image-Guided, Robotic Device: Results Of Initial Feasibility Trial In Patients, James P Herlihy, William E Cohn, Adrian Ebner

Faculty, Staff and Students Publications

Background: Central venous access devices (CVADs) are an essential and widely used tool for the treatment of the critically ill, patients undergoing major surgery, and for many patients requiring hemodialysis. Automation of centrally inserted central catheters (CICCs) could potentially make CVAD placement safer, more effective, and more accessible. A new device that uses ultrasound image-guided, robotic needle placement, in addition to traditional Seldinger technique, to place a CICC is described.

Objective: The device was used in a small, first-in-human, trial for placing non-tunneled hemodialysis catheters (NTHDCs), in order to determine feasibility of clinical use.

Methods: Consecutive patients requiring a NTHDC, …

Single-Nucleus Mrna-Sequencing Reveals Dynamics Of Lipogenic And Thermogenic Adipocyte Populations In Murine Brown Adipose Tissue In Response To Cold Exposure, Janina Behrens, Tongtong Wang, Christoph Kilian, Anna Worthmann, Mark A Herman, Joerg Heeren, Lorenz Adlung, Ludger Scheja

Faculty, Staff and Students Publications

Objective and methods: Brown adipose tissue (BAT) comprises a heterogeneous population of adipocytes and non-adipocyte cell types. To characterize these cellular subpopulations and their adaptation to cold, we performed single-nucleus mRNA-sequencing (snRNA-seq) on interscapular BAT from mice maintained at room temperature or exposed to acute (24h) or chronic (10 days) cold (6 °C). To investigate the role of the de novo lipogenesis (DNL)-regulating transcription factor carbohydrate response element-binding protein (ChREBP), we analyzed control and brown adipocyte-specific ChREBP knockout mice.

Results: We identified different cell populations, including seven brown adipocyte subtypes with distinct metabolic profiles. One of them highly expressed ChREBP …

Fontan Circulation And Transplantation: Considerations For The Complex Candidate., Drishti Tolani, Sharon Chen, Edo Bedzra, Kurt R. Schumacher, Shahnawaz Amdani

Manuscripts, Articles, Book Chapters and Other Papers

The Fontan operation has transformed survival for patients with single ventricle congenital heart disease, but the long-term durability of this physiology remains limited. Fontan circulatory failure (FCF) is a progressive, heterogeneous condition associated with multiorgan dysfunction, lymphatic failure, and elevated post-transplant risk when not recognized early. With increasing survival into adulthood, heart transplantation has emerged as the definitive "fourth stage" of palliation. However, referrals for advanced therapies are often delayed, with many patients presenting in advanced stages of decline. This review synthesizes current evidence on the pathophysiology of Fontan failure, outlines consensus indications for transplant evaluation, and highlights pre-transplant strategies …

The 10-Year Status Of Pediatric Gastroenterologists' Perception Of Their Roles In The Management Of Childhood Obesity., Sara Karjoo, Senthilkumar Sankararaman, Fotini Tania Mitsinikos, Marwa Abu El Haija, Sheela Mahendra, Ayesha Baig, Ruba A. Abdelhadi, Ruben E. Quiros-Tejeira, Timothy Sentongo

Manuscripts, Articles, Book Chapters and Other Papers

In 2013, a survey of NASPGHAN members on their involvement in managing pediatric obesity revealed that most pediatric gastroenterologists viewed their roles as primarily supportive, focusing on the management of obesity-related gastrointestinal comorbidities. This 10-year follow-up survey, which targeted pediatric gastroenterology programs and practices, found similar perceptions, along with an increased interest in learning about obesity pharmacotherapy. Additionally, most programs and practices reported limited access to dedicated dietitians, a lack of funding, and a desire for greater institutional support for multidisciplinary programs addressing obesity. Notably, none of the funded programs cited philanthropy as a source of funding. These findings underscore …

Restricting Metabolic Plasticity Enhances Stress Adaptation Through The Modulation Of Pdh And Hif1a In Trap1-Depleted Colon Cancer, Hong-Yuan Tsai, Miao-Hsueh Chen, Jihye Yun, Lisa A Lai, John F Valentine, Mary P Bronner, Teresa A Brentnall, Sheng Pan, Ru Chen

Faculty, Staff and Student Publications

Metabolic plasticity allows cancer cells to survive under adverse conditions. To investigate the role of mitochondrial chaperone tumor necrosis factor receptor-associated protein 1 (TRAP1) in this process, we used CRISPR/Cas9 mediated genetic deletion to knock out (KO) TRAP1 in colon cancer cells. Depletion of TRAP1 triggered a series of events: induced metabolic reprogramming, increased glycolytic flux, downregulation of mitochondrial complex I, and elevated ROS generation. TRAP1-deficient cells showed tolerance to Oxidative Phosphorylation (OXPHOS) inhibitors and exhibited a higher extracellular acidification rate (ECAR). Additionally, TRAP1 depletion activated hypoxia response elements (HREs) and upregulated HIF1A target genes such as GLUT1 and MCT1. …

Sensory-Selective Peripheral And Neuraxial Nerve Blockade With 2',6'-Pipecoloxylidide, Claire A Ostertag-Hill, Shuanglong Chen, Tianrui Xue, Rachelle Shao, Matthew Torre, Bin Feng, Zahra Vahedi, Longtu Chen, Steven J Staffa, Yueqin Zheng, Daniel S Kohane

Duncan NRI Faculty and Staff Publications

Background: Safe sensory-selective local anesthetics would be a major advance in the management of acute and chronic pain. This articles describes the sensory-selective local anesthetic properties and the toxicity profile of a known metabolite of amino-amide local anesthetics, 2',6'-pipecoloxylidide (PPX).

Methods: PPX was synthesized and made into its hydrochloride salt. PPX or ropivacaine (ROP) were injected at the sciatic nerve or intrathecally in rats, who then underwent modified hotplate (sensory) testing and weight-bearing (motor) testing. Rats injected with PPX or ROP were assessed for clinical toxicity endpoints. Conduction blockade was studied with single-unit recordings in mice. Biocompatibility was assessed histologically. …

A Rare Molecular Diagnosis In A Patient With Hepatocerebral Syndrome Contributes To The Expansion Of The Phenotypic Spectrum Of Polg2 -Related Mitochondrial Disorder, Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Karla Salazar, Daniel Davila-Williams, Yishay Ben-Moshe, Seema R Lalani, Sarah H Elsea, Charul Gijavanekar, Daryl A Scott, Keren Machol, Mir Reza Bekheirnia, Fernando Scaglia

Faculty, Staff and Students Publications

POLG2 encodes an accessory subunit in DNA polymerase gamma that is required for mitochondrial DNA synthesis. Monoallelic pathogenic variants in POLG2 are associated primarily with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 (PEOA4, MIM #610131). We report a rare case of severe infantile hepatocerebral syndrome associated with biallelic variants in POLG2. The proband, a 5-week-old female infant, presented with seizures and acute liver failure. Extensive metabolic workup, including untargeted metabolomics analysis and elevated plasma growth differentiation factor 15, was suggestive of mitochondrial dysfunction. Rapid trio genome sequencing identified compound heterozygous variants, a likely pathogenic variant and …

From Pachymeningitis Hemorrhagica To Abusive Head Trauma: A Journey Through The Centuries, Oliver Berthold, Flora Blangis, Christopher Spencer Greeley

Faculty, Staff and Students Publications

The development of medical knowledge follows specific principles. These also apply to abusive head trauma. The seminal literature from the early 20th century is based on earlier research from Europe, which is fundamental to understand the evolution of understanding and nomenclature of abusive head trauma. A review of original medical literature on intracranial injuries in children, published in German, English, and French, was conducted using PubMed and Google Scholar for articles before 1950. The primary search focused on subdural hemorrhages and pachymeningitis in children, followed by a snowball search of references. Full texts of available manuscripts were reviewed. Primary literature …

Physician Perceptions Of The Evaluation And Management Of Incarcerated Patients In The Emergency Department, Michelle Suh, Anita N Chary, Melanie F Molina, Caitlin M Farrell, Mark B Mycyk, Vidya Eswaran

Faculty, Staff and Students Publications

Background: Incarcerated patients in the United States are frequently seen in the emergency department. Although other specialties have reported differential care for patients who are incarcerated, little is known about the emergency physicians' evaluation and management of patients who are incarcerated.

Objective: The aim of our study was to characterize emergency physician (EP) perceptions of the emergency department (ED) care of incarcerated patients.

Methods: We surveyed emergency medicine resident and attending physicians at three academic safety-net EDs that regularly treat incarcerated patients from May to June 2023. We conducted thematic analysis of responses about perceptions of ED evaluation and management …

Multiomic And Electrophysiologic Analyses Reveal That An Inherited Mrc2 Variant Causes Fibroblast Dysfunction And Increased Atrial Fibrillation Susceptibility, Kevin S Ho, Joshua A Keefe, Shuai Zhao, Mohit M Hulsurkar, Sung Yun Jung, Md Abul Hassan Samee, Xander H T Wehrens

Faculty, Staff and Students Publications

A recent study identified a rare variant in the mannose receptor C type 2 (MRC2) gene in individuals with familial reentrant supraventricular tachycardia, a Wolff-Parkinson-White (WPW) electrocardiogram pattern, and structurally normal hearts. WPW syndrome is associated with atrial fibrillation (AF), and MRC2 was recently proposed as a protective gene for AF. We determined whether the E990G-heterozygous (het) loss-of-function variant in Mrc2 increases AF susceptibility and identified aberrant cellular mechanisms resulting from Mrc2 deficiency in atrial cardiofibroblasts (ACFs) and atrial tissue in mice that may promote AF. Programmed electrical stimulation was performed to determine AF susceptibility in Mrc2 E990G-het …

A House Divided: A Mixed Method Investigation Of Primary Care Interprofessional Teams Using The Core Principles And Values Of Teamwork Framework, Erin L. Kelly, Catherine Guariglia, Jeanne Felter, Dhruvi Shah, Brooke Mauriello, Amy Cunningham, Chris Arenson, Randa Sifri

Department of Family & Community Medicine Faculty Papers

Context

Primary care teams are facing increased demands, turnover, and escalating rates of burnout. A primary care team aligned in its core values and organized according to common teamwork principles is essential for delivering patient-centered, coordinated, and effective healthcare.

Methods

As part of a series of studies on workplace factors and burnout among primary care practice team members, we selected an urban practice with high rates of burnout to assess their teamwork via a practice-wide survey and six focus groups divided by role. The interview guide focused on identifying areas for potential intervention around teamwork. Transcripts were open-coded using a …

Telepsychiatry For Substance Use Disorders: Evolution From Rapid Covid-19 Pandemic Adoption To Sustainable Integration, Jack Wang

Marshall Journal of Medicine

ABSTRACT

Introduction: Prior to the COVID-19 pandemic, telepsychiatry for substance use disorder (SUD) management was generally an underutilized modality, mainly due to regulatory constraints. Through the pandemic, governmental deregulations rapidly and massively expanded their adoption, bringing out their significant potential to expand access, overcome barriers, and mitigate stigma for individuals seeking addiction care, particularly for rural and underserved populations. This narrative review consolidates the recent research on the growing adoption of telepsychiatry in the management of SUDs. It aims to explore the evidence-based benefits, identify common challenges, and underscore key considerations for its effective and equitable integration into SUD treatment …

Use Of Topical Hemostatic Agents In A Gynecologic Patient With Coagulopathy, Alexis O'Connell, Syeda Zainab Shah

HCA Healthcare Journal of Medicine

Introduction

The use of topical hemostatic agents has become common during surgical interventions. There is a wide variety of substances available to augment clotting, ranging from physical agents to topical thrombin combinations. Application of these agents in gynecologic surgery in patients with existing coagulopathies has not been studied.

Case Presentation

A 62-year-old woman with an inferior vena cava filter and a history of multiple deep vein thromboses presented to the clinic with pelvic pain, stress urinary incontinence, and uterovaginal prolapse. She underwent a total vaginal hysterectomy, sacral colpopexy, tension-free vaginal tape sling, and cystourethroscopy. Warfarin was cross titrated to enoxaparin …

Utilizing Femoral Metaphyseal Sleeves In Primary Total Knee Arthroplasty For Post-Traumatic Osteoarthritis: A Case Report, Zachary Sukin, Adam Dentinger, Jeremiah Earl

HCA Healthcare Journal of Medicine

Background

Total knee arthroplasty in younger patients presents a heightened risk of postoperative complications and implant failures compared to older populations, particularly in those with posttraumatic arthritis. These challenges necessitate careful consideration and specialized approaches to optimize the outcomes in this patient demographic.

Case Presentation

A 43-year-old man presented with left knee pain resulting from a traumatic lawn mower injury, causing an intraarticular distal femur, at the age of 6. The injury led to a limb-length discrepancy for which he underwent 2 limb-lengthening procedures in his early 20s. Radiographs demonstrated advanced posttraumatic osteoarthritis, and the patient elected to proceed with …

Beyond The Norm: Decoding Spontaneous Coronary Artery Dissection As An Unusual Cause Of Acute Coronary Syndrome, Holden Zimmerman, Himanshi Banker, Inder P. Kaur, Jaskaran Munjal, Vasu Gupta, Ayushi Garg, Nikita Garg, Meet Patel, Rohit Jain

HCA Healthcare Journal of Medicine

Spontaneous coronary artery dissection (SCAD) is a rare nonatherosclerotic cause of myocardial infarction among young women, particularly during pregnancy. As the name suggests, SCAD is caused by the spontaneous formation of the false lumen within the coronary artery wall, thus compromising the blood flow to the myocardium. Unlike atherosclerotic acute coronary syndromes, SCAD is not directly associated with diabetes or hypertension; moreover, underlying connective tissue defects and inflammation are considered more contributory towards its etiology. Although its pathophysiology is not well understood, multiple theories have been proposed. Clinically, SCAD has a similar presentation to acute coronary syndromes, including substernal chest …

Erratum To <[Transplant Cell Ther 2023 Jul;29(7):438e1-438e16 Epub 2023 Mar 9]>, Melissa R Hines, Tristan E Knight, Kevin O Mcnerney, Mark B Leick, Tania Jain, Sairah Ahmed, Matthew J Frigault, Joshua A Hill, Michael D Jain, William T Johnson, Yi Lin, Kris M Mahadeo, Gabriela M Maron, Rebecca A Marsh, Sattva S Neelapu, Sarah Nikiforow, Amanda K Ombrello, Nirav N Shah, Aimee C Talleur, David Turicek, Anant Vatsayan, Sandy W Wong, Marcela V Maus, Krishna V Komanduri, Nancy Berliner, Jan-Inge Henter, Miguel-Angel Perales, Noelle V Frey, David T Teachey, Matthew J Frank, Nirali N Shah

Faculty, Staff and Student Publications

No abstract provided.

Cmc Arthroplasty For Treatment Of The Painful And Arthritic Thumb: A Review Of Surgical Treatment Options With Preferred Technique, Jon E. Hammarstedt, Yehuda A. Masturov, Sebastian D. Arango, Jacob Zeitlin, Samuel H. Payne, Mark S. Rekant

Department of Medicine Faculty Papers

Arthritis of the first carpometacarpal joint is a prevalent and often disabling condition for many older adults. The diagnosis is typically established through a comprehensive patient history, physical examination, and confirmatory radiographs. Nonsurgical management with splinting and anti-inflammatory medication has demonstrated effectiveness. Several surgical options have proven effectiveness for those who fail nonsurgical management. Surgical options include silicone implantation, resection arthroplasty, tendon interposition, ligament reconstruction, denervation, and joint implant arthroplasty. In the following review, we will elaborate upon the array of therapeutic approaches, culminating in the delineation of our preferred method.

Distinct Molecular Responses Of Human Intestinal Organoids To Proton And Photon Radiation, Victoria Poplaski, Tajhal D Patel, Hoa Nguyen-Phuc, Amal Kambal, Lawrence Bronk, Mary K Estes, Cristian Coarfa, Sarah E Blutt

Faculty, Staff and Students Publications

Radiation exposure impairs rapidly renewing tissues like the intestinal epithelium, yet translational insights from murine models have been limited by species-specific responses. Here, we use human intestinal organoids (HIOs) derived from jejunal epithelium to evaluate human epithelial responses to low dose proton and photon (gamma) radiation. Gamma irradiation induces a unique developmental and metabolic shift in crypt-like organoids, including enrichment of amino acid metabolism pathways and activation of fetal-associated transcription factors and morphology. Integrated multi-omic profiling reveals serotonin biosynthesis as a central regenerative node. Human intestinal organoids can complement animal models and are emerging as a powerful tool in modeling …

Multinucleate Cell Angiohistiocytoma, Connor A. Sheehan, Jayci G. Rhein, Jordan Hyde, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Long-Term Liver-Targeted Aav8 Gene Therapy For Mucopolysaccharidosis Iva, Shaukat A. Khan, Eliana Benincore-Florez, Fnu Nidhi, Jose Victor Álvarez, Dione A. Holder, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and keratan sulfate, primarily in cartilage and its extracellular matrix, resulting in a direct impact on cartilage and bone development, as well as subsequent systemic skeletal dysplasia. ERT and HSCT are current treatment options, but they have a limited effect on bone lesions. In this article, we investigated liver-specific AAV8 vectors with a thyroxine-binding globulin promoter in the MPS IVA murine model to evaluate the long-term (24 weeks in males …

Does Cognitive Frame Affect Clinical Reasoning Among Medical Students? A Cross-Sectional Study, Xiao C. Zhang, Sara A. Belko, Andrew J Monick

Department of Emergency Medicine Faculty Papers

Background Diagnostic errors affect patient safety and lead to high costs. Cognitive bias is a key source of diagnostic error, and the framing effect poses a particular clinical challenge. The extent to which individual factors affect susceptibility to the framing bias is unclear, and the role of expertise in particular is contested across the literature. Objectives This study investigated the effects of framing bias on diagnostic reasoning among medical students. We hypothesised that the effects attributable to framing would be mediated by the number of years of medical education completed. Methods Participants were randomly assigned on an automated basis with …

Translational Framework Linking Perfluoroheptanoic Acid (Pfhpa) Exposure To Metabolic Dysfunction Associated Steatotic Liver Disease In Adolescents, Brittney O Baumert, Ana C Maretti-Mira, Douglas I Walker, Zhenjiang Li, Nikos Stratakis, Hongxu Wang, Yinqi Zhao, Fabian Christoph Fischer, Qiran Jia, Damaskini Valvi, Scott M Bartell, Jiawen Carmen Chen, Thomas Inge, Justin R Ryder, Todd Jenkins, Stephanie Sisley, Stavra Xanthakos, David E Kleiner, Rohit Kohli, Sarah Rock, Sandrah P Eckel, Michele A La Merrill, Max M Aung, Matthew P Salomon, Rob Mcconnell, Jesse Goodrich, David V Conti, Lucy Golden-Mason, Lida Chatzi

Faculty, Staff and Students Publications

Background: The rising prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD), particularly among pediatric populations, requires identification of modifiable risk factors to control disease progression. Per- and polyfluoroalkyl substances (PFAS) have emerged as potential contributors to liver damage; however, their role in MASLD remains underexplored. This study aimed to develop a translational framework integrating human and in vitro data to elucidate the effect of PFAS on MASLD development.

Methods: We measured PFAS plasma levels in the Teen-LABS cohort (n = 136), comprising adolescents with obesity (mean age = 16.8 years) undergoing bariatric surgery. Plasma samples were also analyzed using proteomic …

Prevalence And Clinical Impact Of Pseudohypercalcemia In Paraproteinemia: A Case And Cohort Study, Usman Sunusi, Li Chen, Nianyi Li, Jason K Y Lee, Irmeen Siddiqui, Erin Goodhue, Rongrong Huang, Jieli Li

Faculty, Staff and Students Publications

Background: Hypercalcemia is a common and serious complication of malignancy, often contributing to morbidity and mortality. In patients with paraproteinemia, elevated total calcium with normal ionized calcium, termed pseudohypercalcemia, can complicate diagnosis and lead to inappropriate treatment. While this phenomenon has been described in case reports, its prevalence and clinical impact in routine practice remain poorly defined.

Methods: We report a case of pseudohypercalcemia in a patient with IgG κ multiple myeloma and conducted a retrospective review of de-identified data to assess the prevalence and biochemical associations of pseudohypercalcemia in paraproteinemia. Available data included serum protein electrophoresis (SPEP), …

Impact Of Clinical Decision Support Tool Implementation On Injectable Calcitonin Usage, Petar Jordanov, Ashley Crouch, William Towers

Advances in Cancer Education and Quality Improvement

Calcitonin injection is a high-cost medication used to treat hypercalcemia in hospitalized patients. Many institutions have implemented strategies to reduce unnecessary use or waste of calcitonin, including dose rounding, formulary restriction criteria, and limiting the number of doses a patient may receive. MD Anderson Cancer Center (MDACC) utilizes approximately 1200 calcitonin doses per year with no current formulary or dosing restriction criteria. The goal of this study was to evaluate patterns of use of calcitonin at MDACC and implement and evaluate the impact of clinical decision support tools to reduce unnecessary calcitonin use and waste. This is a single-center quality …

Exploring Patient Perspectives On The Availability And Demand For Patient-Friendly Resources In Non-Small Cell Lung Cancer, Danielle Brazel, Aakash Desai, Fawzi Abu Rous, Jill Feldman, Eric Singhi

Advances in Cancer Education and Quality Improvement

Introduction: The growing emphasis on patient-centered care, along with the rise of open-access publications and online platforms, has increased patient demand for education about their medical conditions. In this context, patient-friendly language summaries of fundamental cancer clinical trials may be valuable resources for patients to learn more about their disease and treatment options.

Methods: We surveyed patients diagnosed with non-small cell lung cancer (NSCLC) to assess the availability and need for easy-to-understand resources related to treatment decision-making and side effect profiles. Patients were also provided an example patient-friendly language summary and asked for feedback.

Results: One hundred fourteen patients responded …

Cd5 Expression In Ctcl And Its Implications For Anti-Cd5 Car T-Cell Therapy, Leena Wardeh, Madeline Williams, Courtney Prestwood, Zachary Wolner, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Cutaneous T-Cell Lymphomas (CTCL) are a heterogenous group of T-cell malignancies in the skin and have poor treatment outcomes in advanced stages. CD5, a surface glycoprotein expressed on most mature T cells, has emerged as a promising target for chimeric antigen receptor (CAR) T-cell therapy in systemic T-cell lymphomas. However, its expression profile in CTCL and relevance for targeted therapy remain unclear. Notably, in CTCL, the cell surface expression of receptors, such as CD7 and CD26, tends to become downregulated on the surfaces of malignant T cells In this study, we analyzed single-cell RNA sequencing (scRNA-seq) data from patients at …

Managing Pcos In Adolescents, Michael Smith, Tania S. Burgert

Pediatrics in Practice: A CME Podcast

In this episode, Dr. Tania Burgert, a leading pediatric endocrinologist and director of the Multi-Specialty Adolescent PCOS Program at Children’s Mercy, breaks down the complexities of diagnosing and managing polycystic ovary syndrome (PCOS) in teens. She discusses the evolving diagnostic criteria, the challenges pediatricians face in early identification, and how to approach patients who may be “at risk.” Dr. Burgert also explores first-line treatment strategies, the critical role of mental health support, and how lifestyle interventions can be made sustainable for adolescents.

Click here to stream the podcast episode.