Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons^™

A Painful Diffuse Rash, Bruce M. Lo, Melanie Shoemaker, Kiersten Potter, Katherine Schaffer

Department of Emergency Medicine Faculty Publications

[Patient presentation]

A 41-year-old male with no past medical history presented with 1 week of ulcers to the left side of his face, followed by several days of a painful rash to the trunk and back after a sexual encounter. The patient denies any fever or previous rash and any illicit drug use. Initial vital signs included a temperature of 97 °F, a heart rate of 89 beats per minute, and blood pressure of 135/79 mm Hg. Physical examination revealed a macular papular rash across his trunk and back (Fig 1) and facial ulcerations with eschar (Fig 2) at the …

Absolute Quantification And Identification Of Rna From Rna-Lipid Nanoparticles Using High Resolution Mass Spectrometry, Jason C. Funderburk, Yasir A. Alshehry, Matthew S. Halquist Phd, Sandro R.P. Da Rocha Phd

Graduate Research Posters

Background

RNA therapeutics are a rising drug category with potential use for a range of conditions encompassing infectious diseases to therapies for cancer, diseases, and genetic disorders. RNA-lipid nanoparticles (RNA-LNPs) are the prominent delivery method for these therapeutics approved products include mRNA vaccines and polyneuropathy treatments. The emergency use authorizations and orphan drug status of current RNA-LNP drugs has allowed approval without finalization of the regulatory analytical procedures for quality monitoring. The objective of the study was to develop an LC-MS assay to simultaneously measure identity and concentration of two therapeutically relevant intact RNA constructs extracted from RNA-LNPs to enhance …

Atrial Fibrillation Detection From At-Rest Ppg Signals Using An Sdof-Tf Method, Mamun Hasan, Zhili Hao

Mechanical & Aerospace Engineering Faculty Publications

At-rest PPG signals have been explored for detecting atrial fibrillation (AF), yet current signal-processing techniques do not achieve perfect accuracy even under low-motion artifact (MA) conditions. This study evaluates the effectiveness of a single-degree-of-freedom time–frequency (SDOF-TF) method in analyzing at-rest PPG signals for AF detection. The method leverages the influence of MA on the instant parameters of each harmonic, which is identified using an SDOF model in which the tissue–contact–sensor (TCS) stack is treated as an SDOF system. In this model, MA induces baseline drift and time-varying system parameters. The SDOF-TF method enables the quantification and removal of MA and …

Dementia Incidence In Patients With Prurigo Nodularis: An Observational Retrospective Cohort Study, Madison P. Olexson, Ana Ormaza Vera, Chunghwan Ro, Clinton W. Enos

Department Dermatology Faculty Publications

[Introduction] Prurigo nodularis (PN) is a chronic neuroinflammatory dermatosis of unknown etiology characterized by severely pruritic, symmetrically-distributed nodules with a negative impact on quality of life [1]. While some consider PN a primary idiopathic disorder, it often arises as a secondary manifestation of underlying conditions, including atopic dermatitis (AD), chronic kidney disease (CKD), human-immunodeficiency-virus (HIV), and thyroid disorders [2]. Although patients with PN are at higher risk for psychiatric comorbidities including depression, anxiety, and suicidal ideation [3] research which investigates associations between PN and neurodegenerative disorders is limited [4]. Moreover, emerging evidence implicating sustained systemic inflammation, characteristic of psoriasis and …

Central Centrifugal Cicatricial Alopecia In Pediatric Patients: A Retrospective Analysis, Radhika Gupta, Nikhita Perry, Noelle Desir, Iain Encarnacion, Jonathan Miles, Susan Taylor, Michelle Oboite, Temitaya Ogunleye

Department Dermatology Faculty Publications

[Introduction] Central centrifugal cicatricial alopecia (CCCA) is a scarring alopecia that predominantly affects middle-aged women of African descent.¹ It begins at the vertex scalp and expands centrifugally, and given that symptoms may be absent, many patients have scarring at presentation. CCCA is primarily described in adult populations, with limited reports of CCCA in children.²^-⁴ We aimed to characterize demographics, clinical findings, and histological features among pediatric patients with CCCA to facilitate earlier diagnoses, prior to irreversible alopecia.

Understanding The Impact Of Psychosocial Barriers On Colorectal Cancer Knowledge In Emerging Black Men, Chelsey Mcgill, Maria D. Thomson, Caroline Kuno, Emmanuel Taylor, Kimberly Lawrence, Alison J. Patev, Arnethea L. Sutton, Ruth Nyagaka, Oxana Palesh, Larry D. Keen Ii

Research and Infrastructure Service Enterprise (RISE) Faculty Publications

In the United States, Colorectal Cancer (CRC) is one of the most commonly diagnosed cancers and the third leading cause of death among non-Hispanic African American/Black (henceforth Black) men. Inadequate CRC knowledge leads to missing early warning signs, delaying prevention and increasing risk. Emerging adulthood (18-25) is a key period for building healthy behaviors and addressing barriers to CRC knowledge in addition to understanding attitudes and practices to CRC screening. Psychosocial barriers - including social support, medical mistrust, and perceived racial discrimination - contribute to the lack of CRC knowledge among older Black men, yet emerging adult Black men remain …

Eeg Signatures Of Motor Development In Early Childhood: A Systematic Review, Sonia Khurana, Ashwini Kulkarni, Thomas C. Bulea, Hunter J. Bennett

Rehabilitation Sciences Faculty Publications

Background

Early identification of motor developmental disorders is limited due to lack of objective neural markers that characterize typical neurodevelopmental patterns. This systematic review interprets and synthesizes existing evidence to propose a framework of EEG signatures associated with motor development in children aged 0-5 years, which may help inform future benchmarks for early assessment and intervention.

Methods

Following PRISMA guidelines, we searched published and gray literature across five databases between 2000 and 2025 (registered protocol). Included studies examined EEG during task-based, resting-state, or sleep studies linked to motor milestones, task performance, or standardized motor assessments. Study quality was assessed using …

Innovative Endovascular Stapling Technique Using The Aortoseal Device In Challenging Infrarenal Aortic Neck, Emidio Germano, Animesh Rathore, David J. Dexter

Department Surgery Faculty Publications

We report the use of the Aortoseal Endostapling system by Endoron in a 63-year-old man with infrarenal abdominal aortic aneurysm with high-risk neck features. Endovascular abdominal aneurysm repair was performed using a Medtronic Endurant IIs endograft with an adjunctive Aortoseal system as part of an international feasibility trial. The procedure was technically successful, with no endoleaks on completion angiography. Follow-up computed tomography angiography at 1 month confirmed a well-deployed AortoSeal system and complete aneurysm exclusion. This case highlights this innovative device and the technical considerations to enhance endograft proximal fixation with the potential to improve long-term outcomes in endovascular aneurysm …

Prognostic Factors For Patients Under 45 Undergoing Surgery For Colorectal Liver Metastases: A Seer Population-Based Study, Gabrielle Grob, Fang Fang, Matvey Karpov, Eric Feliberti, Marybeth Hughes, Rachel Burke, Winifred Lo

Department Surgery Faculty Publications

Background and Objectives: Colorectal cancer (CRC) has been on the rise in adults younger than 50. Surgical resection is a potentially curative treatment option for patients with colorectal liver metastases (CRLM). The aim of this study was to describe patient and tumor characteristics associated with disease-specific survival in young patients (<  45 years) versus older patients (≥ 45 years) with isolated CRLM.

Methods: The SEER database was queried for patients with CRLM who underwent colon and liver resection from 2010 to 2021. Patients under age 20, with metastases beyond the liver, or who had not had surgery for liver metastases were excluded. Cox regression was used to analyze demographic factors, tumor …

Bringing Awareness And Education To Rural Areas About The Role Occupational Therapy (Ot) Has In Infant Care, Makenzi Richwald

Occupational Therapy Doctorate Capstone Posters

This capstone project focused on education and advocacy. The aim of my capstone project was to provide education to parents of eastern Kentucky (KY) about what Occupational Therapy (OT) can address with infants aged 0-18 months. I saw a gap in knowledge in the eastern KY community about what OT could do for infants and wanted to address this. Through my research, consultation with my mentors, and collaboration with the occupational therapists at my site (BPT) I discerned 14 areas of development and/or common reasons of needed referral for OT services by this age group. These educational materials aimed to …

The Relationship Between Skeletal Muscle Mass And Gait Performance In Breast Cancer Patients: A Pilot Study, Sidney Fewell

2026 Honors Symposium

This study examined the relationship between skeletal muscle mass and gait performance in breast cancer patients undergoing or previously treated with chemotherapy. Results showed a moderate positive association between skeletal muscle mass and gait velocity, suggesting that maintaining muscle mass may support functional mobility, while gait variability appeared to be influenced by additional factors beyond muscle mass alone.

Biomechanical Effects Of Exercise-Based Interventions In Chronic Nonspecific Low Back Pain: A Systematic Review And Meta-Analysis, Lara De Vecchi Machado

Theses and Dissertations--Kinesiology and Health Promotion

Chronic nonspecific low back pain (CNLBP) is the leading cause of years lived with disability worldwide and represents a complex, multifactorial, and heterogeneous condition. It is characterized by substantial interindividual variability in muscle activation patterns, lumbo-pelvic coordination, and movement strategies. Although exercise is widely recommended as a first-line intervention and its clinical benefits are well established, the biomechanical mechanisms underlying functional improvement remain fragmented in the literature and are rarely synthesized quantitatively.

This dissertation conducted a systematic review with meta-analysis to investigate the biomechanical effects of exercise-based interventions in individuals with CNLBP. A total of 39 studies were included and …

Clinical Test Cases For Commissioning, Qa, And Benchmarking Of Model-Based Dose Calculation Algorithms In 1⁹2ir Hdr Gynecologic Tandem And Ring Brachytherapy, Vasiliki Peppa, Maude Robitaille, Fatemeh Akbari, Shirin Enger, Rowan Thomson, Firas Mourtada, Gabriel Fonseca

Department of Radiation Oncology Faculty Papers

PURPOSE: To develop clinically relevant test cases for commissioning Model-Based Dose Calculation Algorithms (MBDCAs) for ¹⁹²Ir High Dose Rate (HDR) gynecologic brachytherapy following the workflow proposed by the TG-186 report and the WGDCAB report 372.

ACQUISITION AND VALIDATION METHODS: Two cervical cancer intracavitary HDR brachytherapy models were developed based on a real patient, using either uniformly structured regions or realistic segmentation. The patient's computed tomography (CT) images were processed, converted to a series of digital imaging and communications in medicine (DICOM) CT images, and imported into two treatment planning systems (TPSs), the Oncentra Brachy and BrachyVision. The original segmentation …

Non-Invasive Detection Of Intracranial Pressure, Andrei V. Nesterenko

Honors Undergraduate Theses

Intracranial pressure is a critical metric used when managing tumors, strokes, TBIs, hydrocephalus, and other operative conditions. Traditional methods for continuous ICP monitoring, intraparenchymal catheters, epidural transducers etc., are invasive and carry a high risk of infection. Previous attempts to create accurate, easy to use, and non-invasive ICP monitoring techniques have been unsuccessful. In this study, we investigated the utility of supraorbital and posterior auricular photoplethysmography to monitor changes in ICP during orthostatic tilt and hyperventilation, which increase and decrease ICP respectively.

Through a continuous 5-minute recording on a tilt-table we characterized SOA and PAA waveforms in 12 participants (ages …

A Mass Cytometry-Based Blood Cell Phenotyping Workflow Enabling Inclusion Of Resource-Limited And Rural Sites In Immune System Studies, Natalie J. Smith, Michael Cohen, Lauren Tracey, Julie Alipaz, Christina Loh, David King, Neha Pulyani, Rebecca Auzins, Elin Gray, Sandra Taylor, Rajat Rai, Steven Kao, Barbara Fazekas De St Groth, Helen M. Mcguire

Research outputs 2022 to 2026

Insight into disease detection and treatment through comprehensive immune phenotyping relies on the generation of high-quality data. However, the execution of robust immune monitoring in clinical trials by flow cytometry is complex due to logistical challenges in sample preparation and reagent stability. These challenges are exacerbated when considering remote and rural communities in Australia, which are burdened by both an increased prevalence and a worse prognosis of many chronic and infectious pathologies. This is not unique to the Australian context as globally remote and rural communities are underrepresented in biomedical research studies, contributing to persistent health inequities. To address these …

Intraosseous (Io) Analgesia Medication Administration In Orthopaedic Surgery: A Brief Review, Jenna Chrabolowski, Troy B. Puga, Abanoub Attallahm, Mckenna W. Box, John T. Riehl

North Texas GME Research Forum 2026

Introduction

Intraosseous (IO) analgesia is a novel strategy for pain control in orthopaedic surgery. This brief review aims to provide an overview of IO analgesia in orthopaedic surgery.

Methods

A search was conducted across seven databases. Titles and abstracts were screened followed by full-text review for inclusion criteria. Demographics and results were extracted from included articles.

Results

Ten studies met inclusion criteria and involved patients undergoing knee surgery and spinal surgery. IO lidocaine was shown to be effective for postoperative and intraprocedural pain control during vertebroplasty and kyphoplasty. IO morphine and IO NSAIDs were shown to be effective in reducing …

Devising A Protocol For Mri Clearance In Patients With Cardiac Implantable Electronic Devices (Cied), Sienna Luk, Alvin Mathew, Darshan Bhatty, Kamran Rizvi

North Texas GME Research Forum 2026

Background: Magnetic Resonance Imaging (MRI) in patients with Cardiac Implantable Electronic Devices (CIEDs) remains a logistical challenge in many clinical settings. At Medical City Denton, the absence of a standardized institutional policy has led to significant inefficiencies, including prolonged hospital stays and increased healthcare costs. The primary objective of this project was to address these barriers by developing a streamlined, evidence-based protocol to improve care coordination and resource utilization for patients with CIEDs requiring diagnostic imaging.

Methods: Launched in 2026, this pilot initiative utilized a multi-stakeholder approach involving hospitalists, EPs, radiology staff, and device representatives. A core component of the …

Relationship Between Exception Request For Higher Listing Urgency And Aggressiveness In Accepting Heart Offers, Jorim Parmar, Yingxian Liu, Devika Adusumilli, Luke Taylor, Shakir Al-Ezzi, Usman Khan, Claudio Bravo, Claudius Mahr, Song Li

North Texas GME Research Forum 2026

BACKGROUND: Transplant programs may submit exception requests to upgrade a listed patient’s priority, often anticipating a higher likelihood of accepting marginal or high-risk donor organs. This study explores whether exception request status is associated with increased risk tolerance in organ acceptance.

METHODS: We conducted a retrospective analysis using data from the Scientific Registry of Transplant Recipients (SRTR), focusing on adult patients (≥18 years) listed for heart transplantation. Statistical analyses were performed using SAS/STAT 14.1. Descriptive statistics summarized demographic and clinical variables. Baseline characteristics were compared between recipients with and without exception requests. Primary analysis: Mixed-effects linear regression was used to …

Cardiac Step-Down Unit (Csu), Two Failures Drive Suboptimal Vte Prevention: Quality Improvement, Jorim Parmar, Shakir Al-Ezzi, Anvi Manduva, Muhammad Suleman, Fahed Alsayed, Debra Medsker

North Texas GME Research Forum 2026

BACKGROUND: In the Cardiac Step-down Unit (CSU), two failures drive suboptimal VTE prevention: (1). over-ordering of SCDs in patients unlikely to benefit and (2). < 10% documented application when SCDs are truly indicated. Baseline data indicates that curbing over-ordering alone would reduce recorded non-compliance by >50%, revealing a clear opportunity for system redesign.

METHODS: To integrate the updated “3 Bucket” Risk Model assessment into the computerized physician order entry (CPOE) in order to delineate the prophylaxis for a given patient population. Once the manual risk assessment proves to be viable in increasing compliance, we can propose having the tool adopted into the CPOE system. Root Cause Analysis revealed that lack of standardized VTE risk stratification leads to inconsistent ordering practices – …

Outcomes After Orif Of Closed Bimalleolar And Trimalleolar Ankle Fractures In Patients With Autoimmune Disease, Mckenna Box, Troy B. Puga, Lachlan Anderson, Alyssa Kozlowski, John T. Riehl

North Texas GME Research Forum 2026

Background: Autoimmune disease is associated with chronic systemic inflammation, immunosuppressive therapy, and increased medical comorbidity, which may influence postoperative outcomes following fracture fixation. Data evaluating outcomes after ankle fracture surgery in this population remain limited. We hypothesized that autoimmune disease would be associated with higher postoperative complication rates following open reduction and internal fixation (ORIF) of closed ankle fractures.

Methods: We performed a retrospective cohort study using a multi-hospital dataset (2017-2025) to identify adult patients undergoing ORIF for closed bimalleolar or trimalleolar ankle fractures. Patients with autoimmune disease were propensity score matched 1:2 to patients without autoimmune disease based on …

Surgical Management Of A Giant Colonic Diverticulum, Courtney Koplyay, Mason Workman, Michael Truitt, Muhammad T. Siddique

North Texas GME Research Forum 2026

INTRODUCTION: Giant colonic diverticulum (GCD), defined as a diverticulum >4 cm, is a rare manifestation of diverticular disease with less than 200 reported case reports. CT imaging is the preferred imaging modality to identify and confirm the presence of a GCD, which provides an accurate depiction of the size, location, and contents of the diverticulum GCD can present with nonspecific abdominal symptoms, abdominal pain, bloody stools, or an enlarging mass. Given the risk of serious complications, including diverticulitis, bowel obstruction, and perforation, early recognition and management are essential to prevent further complications. Surgical management with diverticulectomy or partial colectomy is …

Nitrous Oxide Vs. Ketamine: Impacts On Pediatric Emergency Department Length Of Stay, Tabitha Brock, Anna Suessman

North Texas GME Research Forum 2026

Background Nitrous oxide (N₂O) is a well-established analgesic and anxiolytic agent, widely used for procedural sedation in pediatric dentistry. Despite its demonstrated safety and efficacy, its use in Pediatric Emergency Departments (PEDs) remains limited and underexplored. To address this gap, we implemented a comprehensive training program for PED providers and introduced N₂O as an alternative sedation agent.

Objective We hypothesized that using N₂O for procedural sedation would significantly reduce patient length of stay (LOS) without compromising safety or outcomes.

Methods We conducted a retrospective chart review of pediatric patients who underwent painful procedures in a tertiary children’s hospital emergency department. …

Association Of Glp-1 Receptor Agonist Use With Postoperative Outcomes After Rotator Cuff Repair In Patients With Diabetes: A Propensity Score–Matched Analysis, Mckenna W. Box, Troy B. Puga, Hans Drawbert, Aysu Erdemir, John T. Riehl

North Texas GME Research Forum 2026

Background Diabetes impairs tendon healing after rotator cuff repair (RCR), with early postoperative poor glycemic control linked to a higher failure risk in studies. GLP-1 receptor agonists (GLP-1RAs) are increasingly used for glycemic control. Preclinical studies indicate that GLP-1RA may benefit rotator cuff healing through anti-inflammatory mechanisms as well. However, real-world data on the effects of GLP-1RAs on RCR outcomes remain incompletely understood.

Methods We conducted a retrospective cohort study using an institutional dataset (01/01/2016 to 09/30/2024) of adults aged 18-74 years with type 2 diabetes who underwent RCR. GLP-1RA exposure was established by home medication lists. Patients with autoimmune …

Esophageal Squamous Cell Carcinoma Incidentally Detected On Barium Swallow: A Case Report, Muhammad Rubeel Akram, Aditya Rao, Muhammad T. Siddique

North Texas GME Research Forum 2026

Background: Esophageal cancer is an aggressive malignancy with a poor prognosis, and has high rates of recurrence despite curative-intent therapy. While endoscopy with biopsy remains the gold standard for diagnosis, non-diagnostic imaging studies are performed when evaluating for dysphagia, and may bring to light underlying pathology, warranting further workup. Surgical resection following neoadjuvant chemoradiation is often performed, but postoperative complications and disease recurrence are important concerns. This case highlights the crucial role of early detection via imaging and the clinical burden associated with esophageal squamous cell carcinoma.

Case Presentation: A 76-year-old female presented with dysphagia and underwent a barium esophagogram, …

Prognostic Value Of Systemic Inflammatory Indices For Predicting Mace In Nstemi Patients Undergoing Pci, Boney Lapsiwala, Aditya Sharma, Usman Khan, Jorim Parmar, Justin Soloman, Veeranna Vibhuti, Mehdi Khalafi

North Texas GME Research Forum 2026

Background: Cardiovascular diseases (CVD) account for nearly one-third of global mortality, with ischemic heart disease caused by a mismatch between myocardial oxygen supply and demand. Despite advances in percutaneous coronary intervention (PCI) and contemporary pharmacotherapy, patients with non–ST-segment elevation myocardial infarction (NSTEMI) continue to experience substantial residual risk for major adverse cardiovascular events (MACE). As traditional risk stratification tools have limited ability to identify high-risk individuals, interest has shifted toward biomarkers reflecting inflammatory pathways central to atherosclerosis and plaque instability. Hematologic inflammatory markers including pan inflammatory value (PIV), systemic immune inflammation index (SII), neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR) initially …

Biologic Versus Non-Biologic Immunosuppressant Use And Outcomes After Orif Of Closed Ankle Fractures: A Propensity-Matched Analysis, Mckenna W. Box, Troy B. Puga, Lachlan Anderson, Alyssa Kozlowski, John T. Riehl

North Texas GME Research Forum 2026

Background: The effect of biologic immunosuppressant therapy on postoperative outcomes following ankle fracture open reduction and internal fixation (ORIF) remains unclear, and concerns regarding infection and impaired healing often influence perioperative decision-making. We hypothesized that biologic immunosuppressant use would be associated with higher rates of postoperative complications following ORIF of closed ankle fractures compared with non-biologic immunosuppressant therapy.

Methods: We conducted a retrospective cohort study using a multi-hospital administrative dataset (2017-2025) to identify adult patients undergoing ORIF for closed bimalleolar or trimalleolar ankle fractures who were prescribed immunosuppressive therapy. Patients were categorized based on biologic versus non-biologic immunosuppressant use. A …

Handheld Magnet Screening Of External Fixator Components: A Laboratory Assessment Of Gross Ferromagnetism Relevant To Mri Safety, Troy B. Puga, Mckenna W. Box, Lyn D. Ward, John T. Riehl

North Texas GME Research Forum 2026

Introduction Much controversy remains regarding the ability of patients with an external fixator in place to undergo Magnetic Resonance Imaging (MRI). The main concern for radiology departments is that the external fixator system components can lead to adverse events due to interactions of the external fixator and the magnet of the MRI. However, there is no clear evidence to support these claims or theories in the current literature. Yet, MRI’s are denied daily across the country for patients having an external fixator in place. Numerous patients with an external fixator would likely benefit from an MRI to prevent delayed care, …

Efficacy And Outcomes Of Oxidized Regenerated Cellulose (Orc) In Total Joint Arthroplasty (Tja): A Systematic Review And Meta-Analysis, Jenna Chrabolowski, Troy B. Puga, Abanoub Attalah, Kyle P. O'Connor, Mckenna W. Box, Ashley Stovall, Michael Muncy, John T. Riehl

North Texas GME Research Forum 2026

Introduction Intraoperative and postoperative blood loss is a major concern and challenge for surgeons in total joint arthroplasty (TJA). Patients with large blood loss can develop postoperative anemia and associated complications. Novel hemostatic agents, such as oxidized regenerated cellulose (ORC) have grown in popularity as intraoperative hemostatic adjuncts. The aim of this systematic review and meta-analysis is to evaluate the efficacy of ORC for intraoperative and postoperative blood loss.

Methods A search was conducted across MEDLINE/Pubmed, Cochrane, Google Scholar, Web of Science, and Embase databases. Titles and abstracts were screened for eligibility for inclusion criteria. Full texts were screened and …

Positive Efast—Not So Fast, Barry J. Knapp, Mitchell Vallone, Megan Duggins, Matt Jones, Jacob Knapp, Lily Kauffman, Alexander Dornstauder

Department of Emergency Medicine Faculty Publications

[Patient presentation] A 68-year-old man presented via emergency medical services (EMS) with right hip pain following a traumatic fall from his bicycle. On arrival at the emergency department, he was alert and oriented. Physical examination revealed only tenderness over the greater trochanter of the left femur, with no significant pain on passive range of motion of the left hip. Plain radiography demonstrated a left acetabular fracture (Fig 1).

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …