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Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology, Daniel Truong, Joseph Jankovic

Faculty, Staff and Students Publications

Mark Hallett, MD (1943-2025) was a highly influential neurologist in the modern history of movement disorders. Over several decades, his work transformed the field from a predominantly descriptive clinical specialty into a neuroscientific discipline. Through pioneering investigations in neurophysiology, cortical excitability, dystonia, tremors, myoclonus, functional movement disorders, and transcranial magnetic stimulation, Hallett helped establish conceptual frameworks that continue to shape contemporary research and clinical practice. Beyond his scientific contributions, he is recognized as a global mentor and educational ambassador whose influence extended across generations of neurologists and neuroscientists worldwide. This article examines Hallett's dual legacy as both a transformative scientist …

Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum

Faculty, Staff and Students Publications

Background: Intravenous thrombolytic (IVT) and mechanical thrombectomy (MT) therapies are the current standard of care for large vessel occlusion (LVO) stroke. Multiple studies emphasized the impact of time metrics on patient outcomes, particularly door-to-needle (DTN) and door-to-puncture (DTP) times. Tenecteplase (TNK) offers potential advantages over alteplase (ALT), including a simplified one-time bolus administration, which may reduce DTP time. Results suggest TNK is non-inferior to ALT in terms of clinical outcomes, but few large cohort studies have compared DTP time for patients receiving TNK vs. ALT prior to thrombectomy. This real-world study aimed to compare DTP times and discharge outcomes in …

Transient Disruption Of Bladder Control Linked To Periaqueductal Gray Fibers Following Deep Brain Stimulation For Psychiatric Disorders, Thomas Hamre, Hideo Suzuki, Sarah Soubra, Reem El Jammal, Melissa A Ryan, Sanjay J Mathew, Jeffrey A Herron, Nidal Moukaddam, Eric A Storch, Nora Vanegas Arroyave, Kara L Marshall, Garrett P Banks, Nader Pouratian, Wayne K Goodman, Nicole R Provenza, Sameer A Sheth, Sarah R Heilbronner

Faculty, Staff and Students Publications

No abstract provided.

Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong

Faculty, Staff and Students Publications

The Deep Brain Stimulation (DBS) Think Tank XIII was held September 2-4th, 2025, in Gainesville, Florida, at the Norman Fixel Institute for Neurological Diseases at the University of Florida. The theme was "The Evolving Landscape of DBS: New Indications, New Goals." This theme was a continuation of the DBS Think Tank XI and XII, which were focused on emerging technology and pushing the horizon of indications. Since its founding in 2012, the DBS Think Tank has provided a global forum for leading clinicians, engineers, and researchers in both in industry and academia to present, discuss, and debate the current state …

Validation Of The Norwegian Version Of The Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Guido Alves, Yvonne Stavland Sørenes, Veslemøy Hamre Frantzen, Michaela Dreetz Gjerstad, Anders Ledaal Bjørnestad, Jodi Maple-Grødem, Elin Bjelland Forsaa, Ylva Hivand Hiorth, Karen Herlofson, Espen Benjaminsen, Kari Anne Bjørnarå, Espen Dietrichs, Roberta Balestrino, Carmen Gasca-Salas, Chi-Ying R Lin, Alvaro Sanchez-Ferro, Michelle H S Tosin, Tiago A Mestre, Monica M Kurtis, Pablo Martinez-Martin, Sheng Luo, Luowen Yu, Glenn T Stebbins, Christopher G Goetz, Mds Coa Translation Steering Committee

Faculty, Staff and Students Publications

Introduction: The Movement Disorder Society-revised version of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is the gold standard assessment for evaluating Parkinson's disease (PD) symptoms and severity, but a validated Norwegian version is not yet available. We translated the original English MDS-UPDRS into Norwegian and tested the clinimetrics of the translated version following the MDS-established protocol for non-English language translations.

Methods: Two independent teams translated the English version of the MDS-UPDRS into Norwegian. After review of the back-translated English version, cognitive pretesting was performed in twelve PD patients at one study site. This was followed by large-scale testing completed by …

Astrocytic Sox9 Overexpression In Alzheimer’S Disease Mouse Models Promotes Aβ Plaque Phagocytosis And Preserves Cognitive Function, Dong-Joo Choi, Sanjana Murali, Wookbong Kwon, Junsung Woo, Eun-Ah Christine Song, Yeunjung Ko, Debosmita Sardar, Brittney Lozzi, Yi-Ting Cheng, Michael R Williamson, Teng-Wei Huang, Kaitlyn Sanchez, Joanna Jankowsky, Benjamin Deneen

Faculty, Staff and Students Publications

Astrocytes play essential roles in the brain, and their dysfunction is associated with nearly every form of neurological disease. Despite their ubiquity, knowledge of how astrocytes contribute to disease pathogenesis is incomplete; accordingly, harnessing their biology toward therapeutics remains a major challenge. Here we show that the transcription factor Sox9 plays a context-specific role in maintaining astrocyte function and circuit activity in the aging hippocampus and Alzheimer's disease (AD) models. We found that Sox9 overexpression in astrocytes in AD models clears existing amyloid beta (Aβ) plaques and preserves cognitive function. Mechanistically, Sox9 promotes the phagocytosis of Aβ plaques by astrocytes …

Comparative Outcomes Of Robotic Single-Port Vnotes Versus Robotic-Xi Assisted Single-Incision Transumbilical Surgery For Hysterectomy, Qiannan Yang, David Pasternak, Chunhua Zhang, Xiaoming Guan

Faculty, Staff and Students Publications

Introduction: This study was to evaluate the safety and feasibility of robotic single-port transvaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) compared with robotic Xi-assisted single-incision transumbilical surgery (RXi-SITS) for hysterectomy.

Method: A total of 405 patients was retrospectively analyzed, comprising 278 individuals who underwent RXi-SITS hysterectomy and 127 who underwent RSP-vNOTES hysterectomy.

Results: A significantly higher prevalence of endometriosis-associated concomitant procedures, including ovarian cystectomy, lesion excision, adhesiolysis, appendectomy, bowel shaving, and bowel oversew, was observed among patients undergoing RSP-vNOTES (all p < 0.05). The RXi-SITS group saw uterosacral ligament suspension and ovarian vein ligation more commonly performed (both p < 0.05). A multivariable linear regression approach was employed to account for heterogeneity in procedural complexity. Following multivariable adjustment, estimated blood loss, hysterectomy time, and postoperative pain outcomes were comparable between the two surgical approaches. In contrast, multivariable linear regression accounting for concomitant procedures demonstrated that the RXi-SITS approach was independently associated with a significantly prolonged total operative time, with an adjusted mean increase of 21.8 min compared with RSP-vNOTES (B = 21.83; 95% CI: 6.05-37.61; p = 0.007). This is despite unadjusted analyses showing a longer median operative time in the RSP-vNOTES group …

Time Pressures And Sociocultural Constraints Affecting Access To Early Abortion Care Under Texas' "6-Week" Ban, Kari White, Whitney Arey, Anna Chatillon, Anitra D Beasley, Cecili Chadwick, Asha Dane'el, Ophra Leyser-Whalen, Tracy A Weitz

Faculty, Staff and Students Publications

Introduction: In 2021, Texas Senate Bill 8 (SB8) prohibited abortion after detection of embryonic cardiac activity and was often referred to as a "6-week ban." Limited evidence exists about how these laws intersect with people's processes seeking pregnancy confirmation and navigating barriers to abortion care.

Methods: Between October 2021 and August 2022, we recruited Texans ≥ 15 years of age who were seeking abortion using online ads and flyers placed in out-of-state abortion-providing facilities. Participants completed in-depth interviews, and we coded transcripts using inductive and deductive coding. This analysis explores participants' discussions of time needed for pregnancy confirmation, decision making, …

Intercornual Distance And Postoperative Reproductive Outcomes In Moderate-To-Severe Intrauterine Adhesions: A Retrospective Cohort Study, Yifu He, Xingping Zhao, Huan Huang, Changfa Shu, Xiaoming Guan, Jia Guo, Dabao Xu

Faculty, Staff and Students Publications

Study question: Does intercornual distance (ICD), as reflected by intrauterine stent size during hysteroscopic adhesiolysis, have an association with reproductive outcomes and provide information for postoperative risk stratification in women with moderate-to-severe intrauterine adhesions?

Summary answer: A smaller ICD was independently associated with a lower likelihood of clinical pregnancy within 1 year of the final hysteroscopy and may offer additional information for postoperative risk stratification in women with moderate-to-severe intrauterine adhesions.

What is known already: Reproductive outcomes following treatment for moderate-to-severe intrauterine adhesions vary considerably. Existing severity classifications offer limited discrimination within this group. The potential association between ICD and …

Dynamic Progression Of Ectopic Lymphoid Structure Formation In Lacrimal Glands Of A Sjögren’S Disease Murine Model, Sara Abdelhamid, Alison V Ramirez, Emre Aksan, Elizaveta A Demianova, Cintia S De Paiva, Maria C Edman, J Andrew Mackay, Sarah F Hamm-Alvarez

Faculty, Staff and Students Publications

Background: Sjögren's Disease (SjD) is a chronic autoimmune condition characterized by lymphocytic infiltration of lacrimal glands (LG) and salivary glands (SG). In SG, these immune structures have properties of ectopic lymphoid structures (ELS) and appear to play a critical role in disease pathology. While the presence of ELS in patients' SG biopsies is linked to disease severity, their presence and composition in LG has not been well characterized.

Methods: The properties and time course of apparent ELS development in LG from the male non-obese diabetes free (NOR) sub-strain of the Non-Obese Diabetic (NOD) mice was investigated at stages encompassing early …

Updates In Mycobacterial Keratitis Diagnosis And Treatment, Uma L Balakrishnan, Ryan T Wallace, Patricia Chévez-Barrios, Alejandro Arboleda, Masih U Ahmed

Faculty, Staff and Students Publications

Mycobacterial keratitis is an uncommon but challenging form of infectious keratitis, often associated with postsurgical eyes. Clinical presentation is variable and may be difficult to recognize, resulting in delays in diagnosis and challenges in management. Traditional diagnostic techniques from corneal scrapings are limited by slow organism growth and may yield negative results. Treatment is challenging due to antimicrobial resistance and typically requires prolonged multidrug therapy. Advances in diagnostic modalities, antimicrobial therapies, surgical approaches, and adjunctive treatments such as corneal crosslinking have improved clinicians' ability to mitigate or avoid severe visual consequences. Despite these developments, optimal management strategies remain incompletely defined, …

3d Geometric Modelling And Clinical Validation Of Lower Limb And Preliminary 2-Year Post-Operative Clinical Outcomes Of Neutral Boundary Alignment In Total Knee Arthroplasty, Bruno Violante, Lorenzo Deveza, Francesco Pollara, Giovanni Rusconi, Gianroberto Ferreri, Alessandro Annibaldi, Ilwhan Park

Faculty, Staff and Students Publications

Purpose: To introduce a novel three-dimensional (3D) modelling concept for lower limb alignment in total knee arthroplasty (TKA), termed neutral boundary alignment (NBA) and to present preliminary clinical data supporting this physics-based custom alignment strategy.

Methods: NBA is defined as the alignment at which the knee joint line is parallel to the ground during the mid-stance phase of gait, achieving static equilibrium with the NBA axis aligned to gravity. A theoretical geometric model of the lower limb was developed, integrating principles of physics to describe this condition. Preliminary clinical validation was performed using radiographic data from an initial cohort of …

Professionalism In Practice: A Novel Approach To Integrating Small Doses Of Case-Based Professionalism Education Into Monthly Grand Rounds., Allison H Taylor, Andrew Caruso, Kelley Arredondo, Ellen M Friedman, Stacey R Rose

Faculty, Staff and Students Publications

Introduction: Professionalism is a critical construct across the health professions, though learners and faculty report feeling underprepared to navigate difficult situations; education in professionalism is challenged by the absence of a universal definition, time constraints due to overcrowded curricula, and the lack of consistent messaging to learners and faculty.

Methods: Professionalism in Practice (PiP) was developed to provide small doses (∼5 minutes) of case-based professionalism education as part of an existing educational forum (Grand Rounds) to optimize attendance of both learners and faculty. Each vignette highlighted a common professionalism challenge and was aligned with an AAMC professional competency. Sessions were …

A Strategy To Identify Biliary Atresia Efficiently: A Perspective From A Texas Center, Sanjiv Harpavat, Tebyan A Rabbani, Ashley M Upton, Sridevi Devaraj, Jose A Hernandez, Benjamin L Shneider

Faculty, Staff and Students Publications

Infants with biliary atresia are often diagnosed after 60 days of life because the disease is difficult to detect in its early stages. However, infants treated before 30-45 days of life have the best long-term outcomes. To help accelerate the biliary atresia diagnosis, we have developed a streamlined strategy that involves two sequential tests: (1) direct or conjugated bilirubin measurements and (2) a feeding abdominal ultrasound exam. In this review, the strategy is shared to encourage others to provide feedback as well as to consider incorporating portions into their own clinical workflows.

The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso

Faculty, Staff and Students Publications

Pain represents a subjective experience that manifests with emotional and physical discomfort. In pediatric care, pain management is especially complex due to communicative limitations, which creates a unique point of entry for parents to contribute to their child's treatment process. In this study, we explored whether families' perceptions of their child's pain and preferences for treatment were aligned with healthcare providers' pain management decisions. Using narrative-informed techniques in interviews with families and healthcare providers in pediatric care settings, we analyzed areas of concordance and discordance in pain assessment and treatment priorities. Our findings show that trust is built over time …

Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade

Faculty, Staff and Students Publications

Introduction: We developed an innovative, active learning workshop to introduce foundations of point-of-care ultrasound (POCUS) physics and instrumentation. The workshop design aimed to reduce cognitive load and encourage learner-centered engagement through hands-on exploration that reinforces key principles and connects theory to practice.

Methods: First-year medical students participated in small-group, student-driven exercises to explore POCUS machine controls, transducers, and image acquisition skills. Each group was supported by a faculty member to guide activities and ensure accuracy. Students scanned pickles, hard-boiled eggs, and olives with pits; these items were selected for their low cost, sonographic characteristics, and recognizability. Later in the semester, …

Infrared Simulation, Sophia Zhou, Ashton Hoo, Tyler Ricks, Sebastian Fox, Kathy Phu

UROP Posters

Infrared image recognition is more difficult than visible-spectrum recognition due to limited high-quality training data. This project addresses that challenge by generating simulated infrared images using temperature-driven rendering in Unreal Engine and other 3D software. These simulations can support applications such as health monitoring, heat detection in mechanical and structural systems, thermal regulation, and engineering process control.

Evolving Trends In Organ Donation, Recovery, And Utilization In The United States: A Decade Of Change And The Impact Of Covid-19, Nirmay H. Rokad, Ohm Tripathi

UROP Posters

Evolving Trends in Organ Donation, Recovery, and Utilization in the United States: A Decade of Change and the Impact of COVID-19 Background: Over the past decade, organ donation and transplantation in the U.S. have undergone substantial changes, influenced by evolving donor practices and the COVID-19 pandemic. We examined national trends in donor types, organ recovery, utilization, and discard rates between 2012 and 2023. Methods: We analyzed SRTR/OPTN registry from 2012–2023, including total deaths, DBD (donation after brain death); DCD( donation after circulatory death); NRP (normothermic regional perfusion), organ authorization, recovery, transplantation, and discard rates. Pre-COVID (2016–2019) was compared with post-COVID …

Neuron-Enriched Extracellular Vesicle Micrornas Reflect Hormonal Suppression Associated With Oral Contraceptive Use In Young Women, Amulya Chowdhory, Rebekah Frye, Roxann Roberson-Nay

UROP Posters

Hormonal contraceptives alter hypothalamic–pituitary–ovarian (HPO) feedback, but their impact on brain-associated molecular communication remains poorly understood. Neuron- enriched extracellular vesicle (nEV) microRNAs (miRNAs), isolated from plasma, provide a minimally invasive window into brain molecular activity. This pilot study examined nEV miRNA expression in young women (ages 18–22) who were either naturally cycling or using a combined monophasic oral contraceptive (OC) pill. To identify hormonally responsive miRNAs, we calculated effect sizes (Cohen’s d) between the two groups and selected those showing large between-group differences (|d| ≥ 0.8). These miRNAs were entered into a principal component analysis (PCA) to reduce dimensionality, and …

Agrivoltaics Swot Analysis For Implementation In The United States, Vani Ramesh

UROP Posters

Agrivoltaics is the implementation of solar installations alongside agricultural land in order to improve the efficiency of land usage in both industries. Research in European and Asian countries developing agriculture and solar developments in tandem has indicated that implementation in the United States, including Virginia, is feasible and beneficial. The US has the highest energy use per capita in the world, with the increase of various technologies has resulted in land developments using higher energy levels than previously. While Virginia’s energy demand has increased with the addition of data centers. Increased energy demand and food security requirements have unearthed policy/political …

Llm-Driven Weekly Newsletter To Assess Open Source Software Project Github Health, Christian Novalski, Christopher Chavez, Ghalian Fayyadh, Kostadin Damevski

UROP Posters

Open Source Software (OSS) projects increasingly depend on a diverse set of contributors, including episodic participants who contribute intermittently. Episodic contributors represent a large portion of OSS communities, yet projects often struggle to retain them, leading to decreased project health and continuity. While dashboards and real-time communication tools support continuously active contributors, they often fail to serve the unique needs of episodic participants, who may struggle to remain informed and re-engage with project activity after periods of absence. In this study, we examine the effect of a weekly, email-based newsletter intervention designed to improve awareness and engagement among episodic OSS …

The Effects Of Coping Motives On Alcohol Use Consequences, Madisyn E. Feliciano, Samantha Pelfrey

UROP Posters

The purpose of this study was to examine the difference in alcohol use consequences between those who drink to cope with anxiety or depression symptoms and those who do not. Our research aimed to expand on earlier studies by placing emphasis on how coping with anxiety and depression influences alcohol consequences using constructs aligned with DSM-V symptom criteria. Research has consistently shown that those who drink to regulate distressing emotions experience more harmful consequences, making this an imperative area for prevention efforts. It was hypothesized that coping motivated drinking would be associated with an increased amount of alcohol related consequences. …

Bridging The Gap: Why Circulating Micrornas Have Yet To Become Clinical Biomarkers For Endometriosis, Anisha Addepalli, Mary C. Boyes

UROP Posters

Endometriosis is a chronic inflammatory disorder in which endometrial-like tissue grows  outside the uterus, leading to pelvic pain, infertility, and diagnostic delays due to the current  reliance on invasive laparoscopy. Although imaging and hormonal assays offer limited accuracy in diagnosing the disease, circulating microRNAs (miRNAs) in arterial blood have emerged as a  promising alternative method as noninvasive biomarkers because they regulate gene expression,  reflect inflammatory and angiogenic pathways, and remain stable in circulation. I propose  investigating miRNAs such as miR-17-5p, miR-451a, and the let-7 family because of their direct  involvement in the regulation of processes such as cell proliferation, immune …

Antiestrogens As Bone Protective Therapeutics For Estrogen Receptor-Positive Breast Cancer In The Presence Of Osteoporosis, Faith E. Parker, Emily K. Zboril, David C. Boyd, Rachel Myrick, J. Chuck Harrell

UROP Posters

Breast cancer (BC) is one of the most significant causes of mortality among women and the second leading cause of cancer death in women. The estrogen receptor (ER) is a key oncogenic driver in the majority of breast cancer. ER+ BC is the most common molecular subtype of BC. Management of ER+ breast cancer varies depending on menopausal status. For premenopausal women, the goal is to suppress estradiol production from the ovaries with surgical oophorectomy and/or aromatase inhibitors. In postmenopausal women, endocrine therapy (ET) serves to suppress estradiol production from sources other than the ovaries. During the menopausal transition, estradiol …

The Gendered Heart: Closing The Gender Gap In Heart Disease Diagnosis And Treatment, Aiden Varghese

UROP Posters

Cardiovascular disease (CVD) continues to be the primary cause of death for both men and women in the United States, being characterized and treated in a historically male-centric manner. This research paper will address the disparities in risk factors for heart disease between genders, gender differences in diagnosis, and gender differences in management/treatment, thereby demonstrating the critical importance of incorporating sex specific factors into the field of cardiology. It has been demonstrated that lifestyle changes such as physical activity and smoking cessation can reduce CVD risk universally. This signifies a necessary shift toward being proactive in the prevention of CVD. …

Library News January 2026, Research Medical Library

Library News 2026

• Update on NIH Common Forms Implementation
• Looking Back: The Most Popular Library News Articles of 2025
• Using Copilot Chat Effectively and Responsibly in Scientific Writing
• Further Your Knowledge of "Further" and "Farther"

Highly Effective Combination Of Brg1/Brm Inhibitor With Bet Inhibitor Or Decitabine For High-Risk Mecom-Rearranged Aml, Warren Fiskus, Christopher P Mill, Jessica Piel, Mike Collins, Murphy Hentemann, Branko Cuglievan, Christine E Birdwell, Kaberi Das, John A Davis, Hanxi Hou, Antrix Jain, Anna Malovannaya, Lauren B Flores, Tapan M Kadia, Naval Daver, Koji Sasaki, Koichi Takahashi, Danielle Hammond, Jian Wang, Sanam Loghavi, Xiaoping Su, Courtney D Dinardo, Ruud Delwel, Kapil N Bhalla

Faculty, Staff and Students Publications

In AML with 3q26.2 rearrangements (r) the distal GATA2 hematopoietic enhancer becomes aberrantly relocated leading to activation of EVI1 expression. EVI1 is a transcriptional regulator that plays a role in proliferation and maintenance of a stem cell-like phenotype in AML. BRG1 (SMARCA4) and BRM (SMARCA2) are the mutually exclusive ATPases of the BAF (BRG1/BRM-associated factor) chromatin remodeling complexes. They regulate access to enhancers/promoters and gene-expressions orchestrating AML stem/progenitor cell proliferation and differentiation. AML with 3q26.2 rearrangements are clinically challenging and prognosis remains very poor. FHD-286 is an orally bioavailable, selective inhibitor of BRG1/BRM under clinical development in AML. Present studies …

Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen

Faculty, Staff and Students Publications

The standard for in silico pathogenicity prediction of in-frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM-indel, VEST4, and MetaRNN-indel) was compared. Among them, MetaRNN-indel showed the best overall results. MetaRNN-indel was then applied to 1013 unsolved IRD patients, identifying two likely pathogenic causal variants in two unrelated IRD patients by confirming clinical phenotypes. Hence, our findings indicate that reliable prediction of the pathogenicity …

Clinicians’ Views On A Patient Decision Aid For Deep Brain Stimulation In Parkinson’S Disease, Hillary S King, Jennifer Blumenthal-Barby, Benjamin H Levi, Sol De Jesus, Harini Sarva, Laura Y Cabrera

Center for Medical Ethics and Health Policy Staff Publications

Introduction: For people with Parkinson's disease (PD), deciding whether to pursue deep brain stimulation (DBS) has become increasingly complex. Evidence suggests current approaches to collaborative decision-making may fall short of accepted standards. Thus, a decision support intervention, such as a patient decision aid (PtDA) may be warranted. PtDAs have been shown to improve patients' knowledge, expectations, and participation in decision-making for other, similar healthcare decisions. We therefore sought to assess neurologists' awareness of, and experience using, PtDAs, and to solicit their opinions on the ideal features of a PtDA for PD patients considering DBS.

Methods: Sixteen United States-based neurology clinicians …

Spatial Evolution In Temporal Dynamics Of Hemodynamic Response Function In Human Superior Colliculi With Ultra-High-Resolution Mri At 9.4t, Nooshin J Fesharaki, Artemy Vinogradov, David Ress, Jung Hwan Kim

Faculty, Staff and Student Publications

The superior colliculus (SC) plays a crucial role in multisensory integration, visual information processing, saccadic target selection, visual selective attention, and decision making. In particular, the SC has a key role in oculomotor coordination, following a rostro-caudal organization. The rostral SC, which corresponds to foveal representation, is linked to fixation, microsaccades, smooth pursuit, and vergence adjustments. In contrast, the caudal SC, representing more peripheral visual field, is associated with the large gaze shifts (saccades). However, evidence regarding whether this functional gradient is preserved in the human SC remains limited. In this study, we employed a sequence-following visual-motor task to specifically …