Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons^™

Task-Optimized Brain Parcellations Reveal Latent Functional Organization For Enhanced Connectivity-Based Neuroimaging Classification, Andrew Hannum, Mario A. Lopez

Computer Science: Faculty Scholarship

Brain parcellation schemes are fundamental to neuroimaging, yet general-purpose atlases may obscure the specific functional architecture relevant to a given cognitive task or clinical condition. This reflects a growing consensus that the “optimal” brain map is context-dependent. Here, we introduce a novel framework that validates this principle by generating task-optimized human brain parcellation maps directly from supervised learning objectives. Our method defines functional parcels by grouping brain regions based on the similarity of their contributions to a classifier's decision boundary for a specific goal (e.g., cognitive state decoding or clinical group separation). This approach prioritizes a region's discriminative role over …

Patients Requiring Mechanical Ventilation Reported To The North American Snakebite Registry, Joshua Unger, Spencer Greene

Gulf Coast Division GME Research Day 2026

No abstract provided.

Metabolic Syndrome Beyond Diagnostic Criteria: Population-Scale Integrative Metabolomics Characterization, Marwa Talal

Theses and Dissertations

Background: Metabolic syndrome (MetS) is a complex cluster of interrelated metabolic abnormalities associated with elevated cardiometabolic risk. While diagnosis is based on well-established five clinical criteria, these may overlook early or atypical metabolic alterations. Large-scale metabolomic profiling offers an opportunity to identify biochemical signatures of MetS beyond diagnostic bias and to evaluate their relative importance across different presentations of the syndrome.

Methods: Data from 117,147 UK Biobank participants were analyzed in a cross-sectional design. High-throughput NMR quantified 75 circulating metabolites, for. Univariate analyses, MetS subtype stratification, and elastic net models with SHAP interpretation were applied to assess feature …

Comparison Of Fully Covered Self-Expandable Metal Biliary Stents With Or Without Anchoring Double-Pigtail Plastic Stents: A Systematic Review And Meta-Analysis, Samuel Tanner, Fadi Hawa, Alejandra Vargas, Priyata Dutta, Antonio Facciorusso, Jean M. Chalhoub, Jorge D. Machicado

Department of Medicine Faculty Publications

Background and AIMS

Fully covered self-expandable metal stents (FcSEMSs) have become the mainstay of treatment for a variety of biliary pathologies. However, FcSEMSs have been associated with a greater rate of stent migration than other types of stents. A technique of anchoring double-pigtail plastic stents (DPPSs) has been proposed to minimize migration of biliary FcSEMSs. Herein, we evaluated the efficacy of anchoring DPPSs among patients treated with biliary FcSEMSs.

Methods

We performed a systematic review using PubMed, EMBASE, and Web of Science from database inception through August 2023. Full-text articles comparing FcSEMSs with or without anchoring DPPSs were included. We …

Consensus And Controversies Of International Guidelines For The Diagnosis, Surveillance, And Management Of Fetal Growth Restriction: An Updated Comparison, Daniele Diane Mascio, Suneet P. Chauhan, Tullio Ghi, Asma Khalil, Juliana G. Martins, Sara Sorrenti, Tamara Stampalija, Fabrizio Zullo, Francesc Figueras

Department of Obstetrics & Gynecology Faculty Publications

OBJECTIVE: To compare areas of consensus and disagreements across contemporary international and national guidelines on the diagnosis, surveillance, and management of fetal growth restriction (FGR).

DATA SOURCES: Electronic searches of MEDLINE from database inception up to March 2026 using MeSH terms and keywords related to FGR and guidelines. STUDY ELIGIBILITY CRITERIA: Critical, structured comparison of national or international guidelines on FGR published since 2010. Final inclusion required unanimous agreement from all authors.

STUDY APPRAISAL AND SYNTHESIS METHODS: Pre-specified extraction across domains: definition; prediction/prevention; surveillance tools and frequency; delivery timing and mode; and labor induction methods. Dual data …

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 …

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 …

Hyperglycemia Detection From Sigle - Lead Ecg Using A Hybrid Cnn & Transformer Model, Adam Ayomikun Ogunjembola

Graduate Theses, Dissertations, and Problem Reports (ETD)

Abstract
Hyperglycemia Detection from Single-Lead ECG using a Hybrid CNN & Transformer Model
Adam Ogunjembola

Diabetes Mellitus is known as high blood glucose. This high blood glucose level happens when the body has a problem with producing or using insulin. Insulin is a very important hormone that the pancreas makes to control how much glucose gets into the bloodstream and cells. Diabetes Mellitus has an effect on the body if it is not treated, such as damaging the blood vessels and nerves which can lead to stroke, kidney failure, heart attack and permanent loss of vision. Since people with diabetes …

The Impact Of Gastric Sleeve And Roux-En-Y Gastric Bypass On Chief Cell Function And Protein Digestion In Obese Patients, Garikoitz Mikel Gainza

Honors Undergraduate Theses

Obesity has become one of the largest global health concerns of the 21^st century, correlating with numerous associated diseases. To help address the growing prevalence and burden of obesity, sleeve gastrectomy and Roux-en-Y gastric bypass have become two commonly performed surgical procedures done to promote weight loss by altering the anatomical structure of the stomach and surrounding organs of the gastrointestinal system. Although the benefits of improved metabolism linked to these surgical procedures are well studied, their impact on the physiology of gastric cells, and more specifically chief cells as they relate to protein digestion post-surgery, is yet to …

Oropharyngeal Syphilis Presenting As Tongue Based Ulcer With Lymphadenopathy, Serena F. Pu, Kevin J. Carlson, Jonathan R. Mark, Benjamin J. Rubinstein

Department of Otolaryngology (ENT) Faculty Publications

Within the aerodigestive tract, syphilis presents with varied signs and symptoms, some of which may mimic malignancy or other disease processes. We present the case of a 29-year-old man with otalgia and odynophagia who was found on physical examination and office laryngoscopy to have a 4-cm ulcerative mass of the tongue base and cervical lymphadenopathy. While planning for tissue diagnosis, the patient’s serologies revealed positive treponemal antibody testing and elevated rapid plasma reagin (RPR) titers, confirming syphilitic infection, likely representing secondary syphilis. While awaiting operative biopsy, the patient received intramuscular penicillin with complete resolution of the mass and symptoms, and …

Post-Metabolites Of Two Commensal Bacteria Suppress Dna Damage In An Experimental Model Of Acid Reflux Disease, Maanya Pradeep

Honors Undergraduate Theses

Chronic heartburn or gastroesophageal reflux disease (GERD) affects approximately 25% of the US population [1]. Repeated bile acid exposure from the regurgitation of stomach contents leads to the production of reactive oxygen species (ROS), which can cause oxidative DNA damage and promote genomic instability [2]. Barrett’s esophagus (BE), which can develop as a response to chronic bile acid exposure, increases the risk of esophageal adenocarcinoma (EAC) by 30% to 125% [1].

There are more than 18,000 new cases of esophageal cancer in the United States each year, and while its incidence is relatively low compared to other cancers, its mortality …

The Myopia Epidemic: Integrating Genetic, Environmental, And Epigenetic Pathways To Define A Critical Window For Intervention, Pranavika Balaji

UROP Posters

Myopia, or nearsightedness, has increased rapidly worldwide and is now a major public health concern caused by both genetic and environmental factors. Current understanding shows that too much near work, limited time spent outdoors, and prolonged screen use contribute to abnormal eye growth in individuals who may already have a genetic predisposition. At the molecular level, epigenetic changes and shifts in DNA activity, often influenced by environmental conditions, affect the signaling pathways that regulate eye development and may help explain why myopia is increasingly common among children. This paper synthesizes recent environmental, genetic, and epigenetic research to explain how these …

Assessment Of Skin In Patients With Systematic Sclerosis Using High-Frequency Ultrasound And Shear Wave Elastography: A Comparative Study With Histology, Molecular, And Clinical Parameters, Ruhani Desai, Filemon Tan, Minghua Wu, Jeffery L. Browning, Samuel Theodore, Meng Zhang, Brian Skaug, Harshdeep Singh Chawla, Manmohan Singh, Salavat Aglyamov, Kirill V. Larin, Maureen Mayes, Shervin Assassi

Department of Medicine Faculty Publications

Objective: Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large-scale comparison of US-based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US-based skin assessments for their face validity (differentiation between involved SSc and healthy control [HC] skin), construct validity (comparison to modified Rodnan skin score [mRSS]), and criterion validity (comparison to histologic and gene expression fibrosis markers).

Methods: Twenty HCs and 52 patients with SSc underwent clinical and US assessment followed by a forearm skin biopsy. Predefined areas were assessed on the finger, hand, …

Microarray Analysis Of Human Abdominal Aortic Aneurysm With Emphasis On Cardiovascular Genes Revealed Differentially Expressed Genes, Song Lu, Li Ping Li, John V. White, Xiaoying Zhang, Ifeyinwa Nwaneshiudu, Adaobi Nwaneshiudu, Nectaria Ntaoula, John Gaughan, Dimitri S. Monos, Wan-Lu Lin, Charalambos C. Solomides, Emilia L. Oleszak, Chris D. Platsoucas

Biological Sciences Faculty Publications

Background/Aim: We examined gene expression profiles in abdominal aortic aneurysm (AAA) lesions vs. normal aortas by cDNA microarray and real-time quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR).

Materials and Methods: Phosphorus (32P)-labeled cDNA from AAA specimens (mean AAA size 6.65 cm) and normal aortas were hybridized with a 588-gene microarray primarily of the cardiovascular system. The results were validated by qRT-PCR.

Results: A total of 35 out of the 588 genes were differentially expressed, with either log2 ratio of AAAs/controls ≥1 (upregulated; 20 genes) or ≤−1 (downregulated; 15 genes) in AAA lesions vs. normal aorta, and 25 of these were significantly …

Educational Attainment And Symptom Improvement In Treatment-Resistant Depression: A Longitudinal Cohort Analysis Across Treatment Modalities, Marjorie Harrison, Giselli Scaini Msc, Phd, Aspen Viamontes

Summer Research Program Abstracts

No abstract provided.

Neurodevelopmental Outcomes After Posthemorrhagic Hydrocephalus Of Prematurity, Mekal S. Mathew, Rene Leal, Caroline L. Hanan, David J. Sun, Hasan K. Mubarak, Amelie D. Perrier, William E. Johnson, Micolette R. Mardik, Trevor R. Alwell, Christian Amezquita Contreras, Chance E. Hatfield, Peter H. Yang

Summer Research Program Abstracts

No abstract provided.

Oxytocin Dosing During Trial Of Labor After Cesarean To Minimize The Risk Of Uterine Rupture: A Systematic Review And Meta-Analysis, Pierpaolo Nicolì, Moti Gulersen, Jordan Beacham, Hila Hochler, Alessandra Familiari, Anna Locatelli, Cynthia Abraham, Ettore Cicinelli, Amerigo Vitagliano, Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

OBJECTIVE: Oxytocin remains the mainstay for induction and for the management of labor arrest during trial of labor after cesarean (TOLAC). Therefore, the clinical question should be not whether to use oxytocin, but how to optimize its administration. This meta-analysis aimed to assess which oxytocin protocol, in terms of initial dose, amount of increase, timing to next increase, and maximum dose, may minimize the risk of uterine rupture (UR) during TOLAC.

DATA SOURCES: PubMed, Embase and Clinicaltrials.gov were searched up to September 21, 2024.

STUDY ELIGIBILITY CRITERIA: Randomized and nonrandomized studies evaluating the association between induction and/or augmentation with oxytocin …

Cold-Sensitive Acral Hand Lesions, Avery H. Seward, Jocelyn H. Larocque

Department of Medicine Faculty Publications

[Case description] An otherwise healthy woman in her 60s presented with a 2-year history of a persistent, itchy, and tender rash on the dorsal hands. The rash fluctuated in severity with the seasons, worsening during the colder months. The patient denied joint pain and fatigue, or lesions elsewhere.

Examination revealed partially blanchable violaceous plaques on the dorsal hands with partial sparing of the proximal and distal interphalangeal joints (Fig 1). A few punctate, crusted erosions and purpuric macules were present on the dorsal and volar distal phalanges (Figs 2 and 3).

Educational Case: Atypical Presentation Of Primary Hyperparathyroidism With Brown Tumor, Ariel Flotte, Jonathan Light, Harrison Klause, Richard M. Conran

Department of Biomedical and Translational Sciences Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.

Photobiomodulation Mitigates The Inhibitory Effects Of Pirfenidone On Cancer-Associated Fibroblasts And Their Pro-Tumorigenic Properties: A Cause For Concern, Nima Rastegar-Pouyani, Alireza Nasirpour, Fatemeh Javani Jouni, Hossein Vazini, Ahmad Moshaii

Electrical & Computer Engineering Faculty Publications

Cancer-associated fibroblasts (CAFs) within the tumor microenvironment highly contribute to cancer progression and poor prognosis. Recent findings introduce pirfenidone, a medication for pulmonary fibrosis, as a promising repurposed candidate for inhibiting CAFs. Moreover, photobiomodulation (PBM), or low-level laser therapy, has surfaced as a potential modality against cancer; however, its impact on CAFs is not thoroughly comprehended. The present study scrutinized the effects of PBM, pirfenidone, and PBM+pirfenidone on CAFs, and their consequent impact on cancer cells using the CAF-conditioned media. After treating CAFs with PBM at wavelengths 660 and 980 nm with/without PFD and then culturing cancer cells in the …

Inflammatory Co-Regulation Of Voltage-Gated Sodium Channels And Na,K-Atpase In Metastatic Breast Cancer, Steven D. Scahill, Kelly Jean Sherman, Dennis Paul

School of Graduate Studies Faculty Publications

Sodium regulation is a potentially major driver of cancer metastasis. Voltage-gated sodium channels (VGSCs) and Na,K-ATPase are sodium transporters that are upregulated in many advanced carcinomas and are implicated as metastatic drivers. However, little is known about what drives this overexpression, how these proteins influence metastatic behavior, or whether these complementary sodium transporters are co-regulated in cancer. Using sodium transporter regulation in healthy neurons as a model, the present study demonstrated that the inflammatory mediator tumor necrosis factor alpha (TNFα) affects the expression of VGSCs and Na,K-ATPase in an in vitro model of metastatic breast cancer. Acute TNFα challenge increased …

Role Of Gut Microbiome In Oncogenesis And Oncotherapies, Renuka Sri Sai Peddireddi, Sai Kiran Kuchana, Rohith Kode, Saketh Khammammettu, Aishwarya Koppanatham, Supriya Mattigiri, Harshavardhan Gobburi, Suresh K. Alahari

School of Graduate Studies Faculty Publications

The gut microbiome has emerged as a key regulator of human health, influencing not only metabolism and immunity but also the development and treatment of cancer. Mounting evidence suggests that microbial dysbiosis contributes to oncogenesis by driving chronic inflammation, producing genotoxic metabolites, altering bile acid metabolism, and disrupting epithelial barrier integrity. At the same time, the gut microbiome significantly modulates the host response to oncotherapies including chemotherapy, radiotherapy, and especially immunotherapy, where microbial diversity and specific taxa determine treatment efficacy and toxicity. This review synthesizes current evidence on the role of the gut microbiome in both oncogenesis and oncotherapies, focusing …

Prediction Of Lung Vital Capacity Value From Thoracoabdominal Expansion In Young Adults, Aung Myo Htun, Aung Aung Nwe, Chatchaya Jaimanee, Thiwaphon Chatprem, Saowanee Nakmaroeng, Chatchai Phimphasak

Journal of Health Research

Background: Vital capacity (VC) is a fundamental indicator of pulmonary health, but its routine assessment often depends on spirometry devices that may be unavailable (i.e. because of access, cost) in many clinical or community settings. In contrast, lower costal (LC) and upper abdominal (AB) expansions are simple, equipment-free methods commonly used in physiotherapy.

Method: This cross-sectional study was aimed at developing prediction equations for VC using LC or upper AB expansion alongside demographic and anthropometric variables. The study involved 116 healthy nonsmokers (53 male and 63 female individuals) aged 18–39 years. VC was measured via spirometry using a …

Radiogenomic Profiling Of Prostate Tumors Prior To External Beam Radiotherapy Converges On A Transcriptomic Signature Of Tgf-Β Activity Driving Tumor Recurrence, Anson T. Ku, Uma Shankavaram, Shana Y. Trostel, Hong Zhang, Sumeyra Kartal, Houssein A. Sater, Stephanie A. Harmon, Nicole V. Carrabba, Yang Liu, Hyunnam Ryu, James A. Proudfoot, Boon Hao Hong, Bradford J. Wood, Peter A. Pinto, Peter L. Choyke, Mack Roach, Howard M. Sandler, Stephanie L. Pugh, Kenneth L. Zeitzer, Lucas C. Mendez, Nirav S. Kapadia, William A. Hall, Anand B. Desai, Radka S. Stoyanova, Alan Pollack, Elai Davicioni, Melvin L. K. Chua, Baris Turkbey, Adam G. Sowalsky, Deborah E. Citrin

Einstein Health Papers

PURPOSE: Clinical risk grouping based on PSA, tumor grade, and disease extent guides treatment intensity for localized prostate cancer. However, many patients with intermediate- or high-risk disease treated with external beam radiotherapy (EBRT) and androgen deprivation therapy (ADT) still develop biochemical recurrence (BCR). Early identification of patients at high risk for BCR could enable personalized treatment strategies.

EXPERIMENTAL DESIGN: We prospectively enrolled 29 patients with intermediate- or high-risk prostate cancer undergoing EBRT and ADT. Pretreatment biopsies (n = 60) underwent whole-transcriptome microarray and whole-exome sequencing. Patients received multiparametric MRI at baseline and 6 months after treatment, with a median follow-up …

Genomic Ascertainment Of Chek2 -Related Cancer Predisposition, Sunyoung Kim, Jung Kim, Mark Ramos, Jeremy Haley, Diane Smelser, H. Shanker Rao, Uyenlinh L. Mirshahi, Katherine L. Nathanson, Barry I. Graubard, Hormuzd A. Katki, David Carey, Douglas R. Stewart

School of Graduate Studies Faculty Publications

Importance: There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Objective: To quantify the prevalence of as well as cancer risk and survival associated with CHEK2 germline pathogenic and likely pathogenic variants using genomic ascertainment. Design, Setting, and Participants: This case-control study used 2 electronic health record-linked and exome-sequenced biobanks: UK Biobank (n = 469765) and Geisinger MyCode (adults only; n = 167050). Variants were classified according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. Cases …

Identification Of Predictive Pretreatment Biomarkers For Neoadjuvant Chemotherapy Response In Latino Invasive Breast Cancer Patients, Hedda Michelle Guevara-Nieto, Rafael Parra-Medina, Carlos A. Orozco, Sandra Diaz-Casas, Jone Garai, Jovanny Zabaleta, Liliana López-Kleine, Alba L. Combita

School of Medicine Faculty Publications

Background: Breast cancer (BC) exhibits significant heterogeneity in incidence and mortality worldwide. Neoadjuvant chemotherapy (NAC) is the standard treatment for locally advanced BC; however, its efficacy varies by subtype. This study examined the gene expression profiles associated with NAC response in Colombian women with invasive BC. Methods: RNA sequencing of pre-treatment tissues from 58 patients (29 responders and 29 non-responders) identified differentially expressed genes (DEGs) for each molecular subtype, and prognostic performance was evaluated using risk scores. Results: Functional enrichment analysis highlighted the immune system pathways in non-responders. Changes in cytokine target activity and immune cell populations were analyzed to …

Endothelial-Derived Extracellular Vesicles During Exercise In Copd Patients, Samuel C Okpechi, Dorota Wyczechowska, Bennett Deboisblanc, Jessica L Johnson, Mohamed A Ghonim, Natalie Bauer, Hamid A Boulares, Matthew R Lammi

School of Medicine Faculty Publications

Introduction: There are no treatments directly targeting the pulmonary vasculature in chronic obstructive pulmonary disease (COPD), and further characterization of the underlying endothelial cell (EC) abnormalities could be helpful in drug development. Methods: We investigated the influence of exercise and the prostacyclin analog iloprost on extracellular vesicles derived from ECs (eEVs) in 15 moderate–severe COPD patients who were enrolled in a randomized, placebo-controlled crossover trial of iloprost. Results: Active smokers had a profile consistent with inflammatory-derived EVs, while exacerbation-prone COPD subjects had a profile consistent with apoptosis-derived eEVs. There were no significant effects of iloprost on eEV levels. However, there …

Avaren-Fc's Effects On Lymphoma Cells., Jacob Hahn

Electronic Theses and Dissertations

This thesis investigates the therapeutic potential of Avaren-Fc (AvFc), a novel lectin fusion protein that integrates the Fc region of human IgG1 with the engineered lectin Avaren, specifically targeting lymphoma. The study delineates the in vitro binding capabilities of Avaren-Fc with a human B-cell lymphoma cell line, a canine B-cell lymphoma cell line, healthy canine peripheral blood mononuclear cells (PBMCs), and healthy human PBMCs. AvFc was shown to exhibit significant binding to human lymphoma cells. Furthermore, the direct cytotoxicity of Avaren-Fc against canine lymphoma cells, canine lymphoma cells and healthy canine PBMCs was assessed. It was found that there is …

Dual-Task Interaction Between Vestibular Function And Cognitive Processing Using The P300 Event-Related Potential, Laurel Elise Money-Nolan

Graduate Theses and Dissertations (2019 - present)

Previous research has established links between vestibular function and cognitive processing, aging and cognitive function, and aging and vestibular function. Theories of cognitive resource allocation discuss how cognitive resources, such as attention, are devoted towards and divided between tasks when multitasking. This dual-task study, utilizing a balance task and a listening/cognitive task, across the young- and middle-aged adult age range, aimed to evaluate potential relationships between vestibular function, cognition, and age, and to examine how cognitive resources might be allocated under dual-task conditions.

The dual-task protocol in this study utilized an oddball paradigm with tonal stimuli to measure the P300 …

Overview Of Huntington's Disease And Emerging Treatment Strategies: A Narrative Review, Alexis J. Vega, Gabriel V. Hernandez, Pearse A. O'Malley, Connor J. Robin, Amanda N. Parra, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin (HTT) gene. The symptoms of HD include severe motor dysfunction, cognitive issues, and emotional dysregulation. These combined issues are not only debilitating but also lead to depression/anxiety, increased suicide rates, and caregiver burnout. Our narrative review summarizes several recent studies examining the efficacy and differences among emerging treatment strategies for HD. A systematic search of peer-reviewed literature was conducted, focusing on recent studies that describe molecular genetic manipulation of the HTT gene/huntingtin protein. The results of our narrative review reveal …