Digital Commons Network^™

Pleural Metastases From Acral Lentiginous Melanoma Diagnosed By Medical Thoracoscopy, Ad Rian Chong, Khai Lip Ng, Nai-Chien Huan, Nur Husna Mohd Aminudin, Fazilah Hassan, Kasuma Mohamed Nordin

Research outputs 2022 to 2026

Acral lentiginous melanoma (ALM) with pleural metastases is rare and under-recognised. We report an 86-year-old woman with progressive dyspnoea and pleuritic chest pain. 18 months ago, she was diagnosed with stage IIC ALM of the right heel, and was treated with wide local excision, but she declined adjuvant therapy. Imaging demonstrated a large left pleural effusion with diffuse pleural thickening, pulmonary mass, and hepatic metastases. Brownish pleural fluid, along with thoracoscopic identification of multiple pigmented nodules, led to a histologically confirmed diagnosis. Talc pleurodesis was performed for symptom control, and best supportive care was pursued. This case highlights the diagnostic …

Reimagining Peer-Led Support In Doctoral Nursing And Midwifery Education: A Collaborative Autoethnographic Case Study, Gideon U. Johnson, Sachini Thennakoon, Mayumi Kumarage, Emy Toutountzis, Lisa Whitehead

Research outputs 2022 to 2026

Aim: To explore how peer-led initiatives can enhance connection, belonging and sustainability within higher degree by research (HDR) nursing and midwifery programmes. Background: HDR study can be an isolating experience, often characterised by fragmented support and limited opportunities for structured peer learning. While institutions provide formal mechanisms for supervision and progress, less attention has been given to student-led approaches that cultivate inclusive scholarly communities and sustained peer engagement. Design: Collaborative autoethnographic case study. Methods: HDR student representatives and academic staff at Edith Cowan University, Australia (2022–2024), reflected collaboratively on the design, implementation and impact of peer-led initiatives, including monthly hybrid …

Skeletal Muscle Health In Childhood Cancer Survivors: A Systematic Review And Meta-Analysis, Anna Maria Markarian, Dennis R. Taaffe, Daniel A. Galvão, Carolyn J. Peddle-Mcintyre, Jodie Cochrane Wilkie, Francesco Bettariga, Nicholas G. Gottardo, Mayank Dhamija, Santosh Valvi, Catriona M. Buchanan, Kerrie Graham, Robert U. Newton

Research outputs 2022 to 2026

Purpose: Childhood cancer survivors (CCS) are at risk of long-term skeletal muscle deficits following intensive therapies during critical periods of growth. This review aimed to synthesize approaches for assessing muscle quantity, quality, and function in CCS and to quantify deficits relative to healthy peers. Methods: A systematic search was conducted in CINAHL, Embase, PubMed, SPORTDiscus, and Web of Science from inception to June 2024, with an update in November 2025. Studies including CCS who had completed cancer treatment and reported measures of muscle quantity, quality, or physical function were eligible. A three-level mixed-effects model meta-analysis was conducted. Associations between muscle …

The Relationships Between Social Network Size, Loneliness And Personality In Individuals Living With A Neurological Condition: An Exploratory Study, Isabella Branson, Kate Turner, Mitchell Turner, Manja Laws, Leah Dempsey, Simon Laws, Mandy Stanley, Johnny Lo, Travis Cruickshank

Research outputs 2022 to 2026

Background: People living with a neurological condition often report having smaller social networks and less frequent social contact, leading to greater loneliness and worse quality of life. This study explored the relationships between personality traits, social network size (SNS) and perceived loneliness in this population. Methods: Sixty-eight individuals diagnosed with a neurological condition participated in this study. Perceived loneliness was assessed using the UCLA Loneliness Scale – Version 3, SNS was evaluated by the Social Network Index and personality traits were examined using the NEO Factor Five Inventory. Path analysis was conducted to determine if loneliness was negatively associated with …

Work Challenges And Cancer-Related Cognitive Impairment: Level Of Education Accounts For Unmet Needs Beyond Cognitive Impairment Severity, Darren Haywood, Susan L. Rossell, Ashley Henneghan, Frank D. Baughman, Jennifer Haywood, Evan Dauer, Annika Hegde, Ahmed A. Moustafa, Nicolas H. Hart

Research outputs 2022 to 2026

Purpose: Cancer-related cognitive impairment (CRCI) can impact cancer survivors’ return to work and occupational functioning for many years following the completion of cancer treatment. Understanding the characteristics of CRCI-related occupational difficulties and unmet supportive care needs is critical for the development of effective interventions. Within occupational roles, a higher level of education is typically associated with greater cognitive load and different demands. The objective of this study was to examine whether the level of education accounted for CRCI-related (a) occupational difficulties and (b) occupational unmet supportive care needs, beyond the contributions of perceived cognitive functioning and employment level. Methods: A …

Assessing Liver And Iron Markers In Steady State Pediatric Scd Patients To Ascertain The Hepatic Consequences Of Hemotransfusion: A Case-Control Study In Ghana, John Agyemang Sah, Stephen Twumasi, Allwell Adofo Ayirebi, Benedict Sackey, Enoch Odame Anto, Richard Vikpebah Duneeh, Ebenezer Senu, Veronica Barnor, David Boakye, Daniel Nii Martey Antonio, Wina Ivy Ofori Boadu

Research outputs 2022 to 2026

Background and Aims: Between 200,000 and 300,000 children with sickle cell disease (SCD) are born in Africa every year, with 75%–80% of these children living in sub-Saharan Africa. In newborns with SCD, significant iron accumulations may develop because of their increased risk of requiring multiple blood transfusions. This study aimed to assess the hepatic effects of hemotransfusion in pediatric SCD patients in steady state by measuring liver and iron markers. Methods: This case-control research enrolled 120 children with SCD and 60 children without SCD from the Asokwa Children's Hospital Sickle Cell Clinic and Child Welfare Clinic. Participants’ sociodemographic information, history …

Design, Testing, And Safety Performance Of Movable Guardrail Systems: A Prisma-Based Systematic Review, Navid Hashemi Taba, Ahdieh Sadat Khatavakhotan, Majid Tolouei-Rad

Research outputs 2022 to 2026

Movable guardrail systems are increasingly used in work zones, reversible lanes, and temporary traffic operations; however, evidence on their crashworthiness, material performance, and operational reliability remains dispersed across multiple design typologies and regulatory frameworks. This PRISMA-compliant systematic review synthesizes 78 studies involving full-scale crash tests, validated finite-element simulations, field performance evaluations, and compliance evaluations under MASH, EN 1317, NCHRP 350, and AS/NZS 3845.1. The findings indicate that modular rigid barriers reliably achieve TL-3/TL-4 performance when joint alignment and foundation conditions are properly controlled; semi-rigid steel systems provide a practical balance between containment capacity and redeployability, but remain sensitive to post …

Digital Pain Assessment: Patient And Family Perspectives, Rosemary Saunders, Kate Crookes, Kaoru Nosaka, Olivia Gallagher, Jeff Hughes, Caroline Bulsara, Max K. Bulsara, Seng Giap Marcus Ang, Beverley Ewens, Sue Haydon, Karla Seaman, Renée Graham, Debra Scaini, Karen Gullick, Michelle Gay, Christopher Etherton-Beer, Renée Graham

Research outputs 2022 to 2026

Background/Objectives: Pain is a common symptom for hospitalised older adults. Pain is not always adequately assessed, which can lead to inadequate pain management and adverse patient outcomes. Thus, new technology-driven pain assessment tools have been developed; however, little is known about patients’ and families’ experiences of nurses using them in acute care. This study aimed to explore the perspectives of older adult inpatients and their families’ regarding nurses’ use of the digital technology-driven pain assessment application PainChek^® Universal. Methods: A survey was undertaken as part of a stakeholder evaluation of a randomised control trial exploring the effectiveness of nurse-led …

Essential Role Of Cd63 In Maintaining Corneal Epithelial Identity In The Human Limbus, Yuzuru Sasamoto, Kosei Suzuki, Shinri Sato, Catherine A.A. Lee, Gabrielle Martin, Bruce R. Ksander, Markus H. Frank, Natasha Y. Frank

Research outputs 2022 to 2026

Purpose: Building on the identification of ABCB5 as a marker of limbal stem cells (LSCs), this study examines CD63, a newly identified molecule co-expressed with ABCB5 in limbal epithelial cells, to define its role in maintaining corneal epithelial cell identity. Methods: RNA sequencing (RNA-seq) was performed on flow cytometry–sorted Abcb5-positive and Abcb5-negative murine corneal epithelial cells. CD63 expression in human corneal tissue was assessed by immunostaining. CD63 was silenced in cultured human limbal epithelial cells using siRNA-mediated knockdown and resulting molecular and cellular changes were analyzed by qRT-PCR, flow cytometry, RNA-seq, Western blotting, and cell proliferation assays. Results: RNA-seq analysis …

Graph Convolution Neural Network And Deep Q-Network Optimization-Based Intrusion Detection With Explainability Analysis, Kelvin Mwiga, Mussa Dida, Leandros Maglaras, Ahmad Mohsin, Helge Janicke, Iqbal H. Sarker

Research outputs 2022 to 2026

As networks expand in size and complexity, coupled with an exponential increase in intrusions on network and IoT systems, this leads to traditional models failing to capture increasingly intricate correlations among network components accurately. Graph Convolution Networks (GCNs) have recently acquired prominence for their capacity to represent nodes, edges, or entire graphs by aggregating information from adjacent nodes. However, the correlations between nodes and their neighbours, as well as related edges, differ. Assigning higher weights to nodes and edges with high similarity improves model accuracy and expressiveness. In this paper, we propose the GCN-DQN model, which integrates GCN with a …

Machine Learning-Based Upscaling Of Rock Permeability From Pore Scale To Core Scale: Effect Of Training Dataset Size And Sub-Core Volumes, Yaotian Guo, Fei Jiang, Takeshi Tsuji, Yoshitake Kato, Mai Shimokawara, Lionel Esteban, Mojtaba Seyyedi, Marina Pervukhina, Maxim Lebedev, Ryuta Kitamura

Research outputs 2022 to 2026

Permeability characterizes the capacity of porous formations to conduct fluids, thereby governing the performance of carbon capture, utilization, and storage (CCUS), hydrocarbon extraction, and subsurface energy storage. A reliable assessment of rock permeability is therefore essential for these applications. Direct estimation of permeability from low-resolution CT images of large rock samples offers a rapid approach to obtain permeability data. However, the limited resolution fails to capture detailed pore-scale structural features, resulting in low prediction accuracy. To address this limitation, we propose a convolutional neural network (CNN)-based upscaling method that integrates high-precision pore-scale permeability information into core-scale, low-resolution CT images. In …

Mango Fruit Set And Drop: A Comprehensive Review, Haider Ali, Zora Singh, Mekhala Dinushi Kananke Vithana, Jugpreet Singh, Alan Niscioli, Eben Afrifa-Yamoah, Andrew Woodward, Mahmood Ul Hasan, Aman Ullah Malik

Research outputs 2022 to 2026

Insufficient fruit set and excessive fruit drop are key challenges faced within the global mango (Mangifera indica L.) industry, affecting yield consistency and grower’s income as well as adversely impacting global mango trade. Rising temperature regimes and extreme weather events at critical stages of fruit set and development are among the primary driving factors behind these extremely devastating issues in the mango industry. Scientific interventions aimed at regulating fruit set and drop have become increasingly important. Inadequate pollination and fertilisation can also cause poor fruit set, whilst self-incompatibility and stenospermocarpy can cause fruit drop in mango. Mango fruit set and …

Remodeling Of The Mouse Liver And Skeletal Muscle Metabolome In Response To Continuous Acute Exercise And Disruption Of Ampk-Glycogen Interactions, Mehdi R. Belhaj, David I. Broadhurst, Thomas Dignan, Jamie Whitfield, Lisa Murray-Segal, Naomi X.Y. Ling, Jonathan S. Oakhill, Bruce E. Kemp, John A. Hawley, Stacey N. Reinke, Nolan J. Hoffman

Research outputs 2022 to 2026

Background/Objectives: Acute exercise remodels many interconnected biochemical pathways in metabolically active tissues. This remodeling involves the activation of the energy-sensing AMP-activated protein kinase (AMPK) to maintain cellular energy homeostasis. Critical energy reserves of glycogen, primarily stored in liver and skeletal muscle and known to interact with AMPK, are utilized to help meet increased energy demands with exercise. However, the breadth of metabolic pathways regulated by acute exercise and AMPK’s interactive roles with glycogen remain incompletely understood. This study therefore aimed to map mouse liver and skeletal muscle metabolite responses to continuous acute exercise and disruption of AMPK-glycogen interactions. Methods: Liquid …

Seeing Voices: A Dynamic, Interprofessional Approach To Teaching Performing Arts And Speech-Language Pathology Students About Vocal Anatomy And Physiology, Deborah Hersh, Luzita Fereday, Fiona Palmer, David Hall, Pedro Amarante Andrade, Priscilla Cornelius, Charn Nang, Jane White

Research outputs 2022 to 2026

Objectives: Seeing Voices was an interprofessional, technology-enabled, large-scale, teaching and learning event developed to address the need to improve voice students’ knowledge of laryngeal anatomy and physiology toward understanding and maintaining vocal health. Seeing Voices trialed a novel interprofessional educational approach, collected both quantitative and qualitative data about student experiences of laryngostroboscopic examination, and built a databank of laryngeal recordings for future student learning. Methods: Seeing Voices involved two 3-hour seminars in a large, university lecture space, run by an interprofessional team (speech-language pathologists, vocal coach, Ear Nose and Throat consultant) with quality equipment projecting laryngeal images to large screens …

The Emerging Role Of Tertiary Lymphoid Structures As Predictive And Prognostic Biomarkers Of Immunotherapy In Cancer, Lidia B. Medhin, Rodas Amanuel, Lydia Warburton, Leslie Calapre, Benhur Amanuel, Elin S. Gray

Research outputs 2022 to 2026

Background: Immune checkpoint inhibitors (ICIs) have improved outcomes across several cancers, yet many patients do not respond, highlighting the need for robust predictive biomarkers. Tertiary lymphoid structures (TLS), ectopic lymphoid aggregates that support local antigen presentation and adaptive immune activation, have emerged as potential indicators of favourable prognosis and immunotherapy responsiveness. Methods: This review summarises current clinical and translational evidence examining the prognostic and predictive value of TLS in solid malignancies. Studies assessing TLS presence, organisation, and biological function were identified through searches of major scientific databases and evaluated with respect to their association with patient outcomes and responses to …

Aging Reduces Motivation Through Decreased Bdnf Expression In The Ventral Tegmental Area, Hanyue Cecilia Lei, Kyle E Parker, Chao-Cheng Kuo, Carla M Yuede, Jordan G Mccall, Shin-Ichiro Imai

2020-Current year OA Pubs

Age-associated reduced motivation is a hallmark of neuropsychiatric disorders in the elderly. In our rapidly aging societies, it is critical to keep motivation levels high enough to promote healthspan and lifespan. However, how motivation is reduced during aging remains unknown. Here, we used multiple mouse models to evaluate motivation and related affective states in young and old mice. We also compared the effect of social isolation, a common stressor in aged populations, to those of aging. We found that both social isolation and aging decreased motivation in mice, but that Bdnf expression in the ventral tegmental area (VTA) was selectively …

Trajectories And Predictors Of Activity Participation Among People With Parkinson Disease: A 3-Year Longitudinal Study, Moon Young Kim, Yejin Lee, Carolyn M Baum, Lisa T Connor, Chih-Hung Chang, Linda Tickle-Degnen, Erin R Foster

2020-Current year OA Pubs

OBJECTIVE: To investigate how participation changes over time among individuals with Parkinsondisease (PD) and identify factors influencing these changes, focusing on impairment level and social factors.

DESIGN: Secondary analysis of a 3-year prospective cohort study of social self-management of PD. Data were collected during 4 in-person assessments conducted at baseline and then annually thereafter. Multilevel modeling was used to analyze data from the 4 time points.

SETTING: Department of Occupational Therapy Research Laboratory and Department of Neurology Movement Disorder Clinic.

PARTICIPANTS: A total of 86 individuals (N = 86) with idiopathic PD (Hoehn & Yahr stages I-IV; mean age ± …

Histone Demethylase Jmjd1a Protects Mice From Enteric Bacterial Infection By Upregulating Ccl8 Expression To Recruit Macrophages And Cd4+ T Cells, Yong Zhang, Ping Luo, Weihua Li, Jianming Xu, Gongpeng Xiong, Chundong Yu, Wenbo Chen

Faculty, Staff and Students Publications

Jumonji domain-containing 1A (JMJD1A, also known as KDM3A) is a histone demethylase that specifically demethylates H3K9me1/2 to enhance gene expression. The roles of JMJD1A in many physiological and pathological processes have been revealed. However, it is unclear whether JMJD1A is involved in host defense against enteric pathogen infection. In this study, we found that enteric infection with C. rodentium induced JMJD1A expression in colonic epithelial cells at the transcriptional level partly mediated by IRF1. After C. rodentium infection, JMJD1A-/- mice exhibited increased mortality, colonic injury, and C. rodentium load and systemic spread, suggesting that JMJD1A protects host against C. rodentium …

Online Tutorial On Survival Analysis For Biomarker Discovery, Nancy P Moreno, Alana Newell, Gad Shaulsky, Blaž Zupan

Faculty, Staff and Students Publications

In biomedicine, survival analysis addresses time-to-event data to study outcomes like patient survival and treatment response, and supports biomarker discovery. Yet, teaching this analysis is often hindered by mathematical and programming barriers. We present a structured, hands-on tutorial that goes beyond a typical online guide-offering integrated video lectures, literature, quizzes, and practical exercises. Built around Orange Data Mining, an open and free no-code visual analytics platform, the tutorial covers key concepts such as censoring, Kaplan-Meier curves, group comparisons, and biomarker discovery through real-world datasets. Organized in four pedagogical units, it progresses from basic survival data analysis to gene and gene-set …

Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung

Faculty, Staff and Students Publications

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum. Structural mapping of disease-associated missense variants revealed phenotype-specific clustering, with CODAS variants enriched in the proteolytic chamber and NDD variants more broadly distributed. CODAS is caused by biallelic …

Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody, Nhgri Genome Sequencing Program (Gsp) Consortium, Benjamin Neale, Xihong Lin

Faculty, Staff and Students Publications

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. This paper compares the data quality, performance, and concordance of two widely used WGS variant callers, the Genome Analysis Toolkit (GATK) and Variant Tool set that discovers short variants (VT), using 60 532 multi-ancestry whole genomes sequenced by the Centers for Common Disease Genomics (CCDGs) of the NHGRI Genome Sequencing Program. Our findings show that both QCed GATK …

Segmental And Multifocal Isolated Dystonias: Similarities And Differences, Gamze Kilic-Berkmen, Joel S Perlmutter, Laura J Wright, Christine Klein, Jeanne S Feuerstein, Steven Bellows, Joseph Jankovic, Cynthia Comella, Richard L Barbano, Aparna Wagle Shukla, Stephen G Reich, Mark S Ledoux, Alberto J Espay, Kevin R Duque, Florence C F Chang, Victor S C Fung, Sarah Pirio-Richardson, Carmen Terranova, Emile S Moukheiber, Sarah Idrissi, Barbara Vitucci, Susan H Fox, Samuel Frank, Natividad Stover, Brian D Berman, Rachel Saunders-Pullman, William G Ondo, Christopher L Groth, Marcello Esposito, Laura Avanzino, Francesco Bono, Roberto Erro, Marcello Mario Mascia, Antonella Muroni, Alfredo Berardelli, Giovanni Defazio

Faculty, Staff and Students Publications

Background: Whether the traditional distinction between segmental and multifocal dystonia is clinically or scientifically useful remains unclear.

Objective: To evaluate whether idiopathic isolated adult-onset segmental and multifocal dystonia can be differentiated based on clinical features other than the contiguity of affected body regions.

Methods: We compared data on segmental and multifocal dystonia from two large dystonia databases established in the USA and Italy that used similar criteria for patient recruitment and assessment.

Results: Compared to segmental dystonia, multifocal dystonia was characterized by a higher proportion of men, a younger age at dystonia onset, a greater frequency of upper limb dystonia, …

Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, Chi-Ying R Lin, Leila Montaser-Kouhsari, William Saban

Faculty, Staff and Students Publications

While considered a motor control structure, the cerebellum contributes to non-motor functions, including impulsivity. However, whether it contributes to impulsivity in a domain-specific manner remains unknown. Studies on cerebellar ataxia (CA), a common model for cerebellar dysfunction, typically have small sample sizes, limiting robustness. In a multicenter cross-sectional study, we investigated the cerebellum's role in various forms of impulsivity by comparing large cohorts of CA to age- and education-matched neurotypical healthy (NH) controls. Additionally, to examine the ability to identify individuals with CA using impulsivity features alone, we developed supervised machine learning (ML) models. In experiment 1 (CA = 140, …

Responsive Neurostimulation In Children, Adolescents, And Young Adults-Longitudinal Effectiveness And Safety, Kimberly Houck, Cristina Trandafir, Matthew J Mcginley, Deepankar Mohanty, James J Riviello, Howard L Weiner, Daniel Curry, Irfan Ali

Faculty, Staff and Students Publications

Drug-resistant epilepsy (DRE) remains challenging to treat, and seizure control often fluctuates over time. Responsive neurostimulation (RNS) is increasingly used in pediatric and young adult populations, yet long-term effectiveness and safety data are limited. We evaluated longitudinal seizure control trajectories and safety of RNS in children, adolescents, and young adults treated at our center. Seizure frequency was assessed at approximately 6-month intervals from serial follow-up visits through the most recent follow-up, with each sampled visit categorized by ≥ 50 % (all-responder, AR) or ≥90 % (super-responder, SR) seizure reduction. We examined the persistence and durability of seizure control and used …

Pharmacodynamics, Efficacy, And Safety Of Intraputaminal Eladocagene Exuparvovec Administered To Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using An Mr-Compatible Cannula: 48 Weeks Of Follow-Up, Donald L Gilbert, Sudhakar Vadivelu, Bruria Ben-Zeev, Matthew Vestal, Muhammad Zafar, Chun-Hwei Tai, Sheng-Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin-Hsiu Chien, Paul Wuh-Liang Hwu

Faculty, Staff and Students Publications

Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production. Study GT‐002 (NCT04903288) is a phase 2, multicenter, open‐label trial assessing the pharmacodynamics, safety, and efficacy of eladocagene exuparvovec administered to the putamen bilaterally in pediatric patients with AADC deficiency using a magnetic resonance (MR)‐compatible cannula. Patients received eladocagene exuparvovec at 1.8 × 1011 vector genomes via the SmartFlow MR‐compatible cannula in a single operative session. Endpoints include the change from baseline in …

Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, Dave Clarke, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M Ravindra, James J Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T Freiling, Karen Evankovich, Yingchao Yuan, Kalman A Katlowitz, Daniel Curry, Howard L Weiner, Anne Anderson

Faculty, Staff and Students Publications

Objective: In children with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE), magnetic resonance imaging-guided stereotactic laser ablation (SLA) therapy offers less-invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long-term outcomes in patients with TSC-related DRE who have undergone SLA.

Methods: Patients with TSC and DRE treated with SLA, between July 1, 2016 and January 1, 2022, at our institution were identified retrospectively. Reduction in number of anti-seizure medications (ASMs), developmental improvement as reported by the patients' families, seizure frequency measured in surgically targeted seizure type and total seizures per day, and Engel …

External Validation Of Calculator For Cesarean Delivery During Induction Of Labor, Estefania Guthrie, Ipsita Ghose, Hector Mendez-Figueroa, Suneet P Chauhan

Faculty, Staff and Students Publications

Objective: To validate a published risk calculator to predict cesarean delivery (CD) among singletons undergoing induction of labor.

Methods: Our retrospective cohort study included singletons undergoing induction of labor. A predicted CD score was calculated for each individual based on a previously developed calculator. External validation of the calculator was assessed by the discriminative power of the model by using the area under the receiver operating characteristic curve, and by a calibration curve. The score was categorized as less than 10%, 10% to less than 30%, and 30% or greater. The primary outcome was CD. The secondary outcomes were a …

Lower Gyrification Of The Ventromedial Prefrontal Cortex In Posttraumatic Stress Disorder: An Enigma-Ptsd Study., Courtney C Russell, Delin Sun, Leonel Rangel-Jimenez, Chadi G Abdallah, Michael Angstadt, Geoffrey May, Hannah Berg, Jennifer U Blackford, Josh Cisler, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Maria Densmore, Seth G Disner, Wissam El-Hage, Amit Etkin, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Ryan A Herringa, Julia I Herzog, David Hofmann, Anna R Hudson, Tanja Jovanovic, Anthony King, Saskia B J Koch, Ruth A Lanius, Amit Lazarov, Gen Li, Israel Liberzon, Shmuel Lissek, Guangming Lu, Antje Manthey, Adi Maron-Katz, Katie A Mclaughlin, Sven C Mueller, Laura Nawijn, Steven M Nelson, Yuval Neria, Richard W J Neufeld, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Rongfeng Qi, Yann Quidé, Orren Ravid, Ivan Rektor, Kerry J Ressler, Pavel Říha, Marisa Ross, Kelly Sambrook, Christian Schmahl, Anika Sierk, Scott R Sponheim, Jennifer S Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Jean Théberge, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Li Wang, Xi Zhu, Ye Zhu, Sigal Zilcha-Mano, Neda Jahanshad, Paul M Thompson, Rajendra A Morey

Faculty, Staff and Students Publications

Background: Cortical gyrification involves the formation of folds in the cerebral cortex, coinciding with key neurodevelopmental processes. Its strong correlation with increased cortical surface area and decreased cortical thickness may improve cortical signaling efficiency by decreasing cortico-cortical distance. Differences in brain structure have been found in posttraumatic stress disorder (PTSD), yet few small studies have examined cortical gyrification.

Methods: Gyrification was quantified using FreeSurfer's Local Gyrification Index (lGI), derived from 3-dimensional T1-weighted volumetric brain magnetic resonance imaging in 1876 participants (PTSD n = 789, control n = 1087) across 24 sites from the ENIGMA-PGC (Enhancing Neuro Imaging Genetics through Meta-Analysis …

How Does Frailty Impact Peri-Operative And Speech Recognition Outcomes For Cochlear Implants In Veterans?, Angela S Peng, Nathan R Lindquist

Faculty, Staff and Students Publications

Objective: To investigate the association of frailty with post-cochlear implant (CI) admission, morbidity, and CI-aided word recognition outcomes in veterans.

Study design: Retrospective cohort.

Setting: Single-institution tertiary care Veterans Health Administration (VHA) hospital.

Methods: Veterans who underwent cochlear implantation between 1998 to 2024 were included. The Modified 5-Item Frailty Index (mFI-5) score was used to characterize preoperative frailty. Outcomes of interest were admission from post-anesthesia care unit (PACU), relative risk (RR) of admission among frail patients, and relationship between frailty and post-CI word recognition score (WRS). Ordinal data were analyzed via logistic regression and Chi square tests; a multivariate linear …

Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Abdul Hafeez Diwan, Omid Jalali

Faculty, Staff and Students Publications

Vitiligo and lichen sclerosus (LS) are autoimmune dermatoses that may share overlapping clinical and histopathologic features, posing diagnostic challenges when they occur concurrently. We report a biopsy-confirmed case of vulvar vitiligo and LS in a 61-year-old woman presenting with pruritic, depigmented patches on the labia majora and minora. Histopathologic examination showed epidermal thinning with papillary dermal hyalinization and a dense, band-like lymphocytic infiltrate consistent with LS. Melan-A immunostaining demonstrated a complete absence of epidermal melanocytes, confirming concurrent vitiligo rather than LS-related post-inflammatory hypopigmentation. This case underscores the importance of correlating subtle clinical clues with melanocyte-specific immunostains to distinguish coexistent vitiligo …