Digital Commons Network^™

Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley

Faculty, Staff and Students Publications

Purpose: Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors.

Methods: We conducted focus groups with caregivers of individuals with SMS to evaluate two commonly used questionnaires for food-related behaviors- the Food Related Problems Questionnaire (FRPQ) and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Based on caregiver input and clinical expertise, we adapted these existing measures into a new tool: the SMS-FRPQ. We then validated this instrument for internal consistency and concurrent validity using online …

Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu

Faculty, Staff and Students Publications

Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …

Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein

Faculty, Staff and Students Publications

Background: Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

Objective: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.

Methods: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

Results: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most …

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 …

Age-Related Variations Of The Hemodynamic Response Function Spatially Resolved Across Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, David Ress

Faculty, Staff and Students Publications

Normal aging leads to regional vascular and neural alterations. Age-related impairments in neurovascular coupling (NVC) affect the blood-oxygen-level-dependent (BOLD) hemodynamic response function (HRF) measured with functional magnetic resonance imaging, causing changes in both amplitude and temporal dynamics. Previously, global, systematic age-related changes in HRF characteristics were demonstrated, consistent with known microvascular aging effects. In this follow-up study, a standard space was used to compare spatially resolved cortical HRF dynamics between sex-balanced groups of young and older adults. The results showed substantial age-related differences in both HRF amplitude and timing across distinct cortical regions. Nearly twice as much cortical area exhibited …

Utilizing A Culture System For Horizontal Cells To Study Neural Circuit Assembly In The Developing Mouse Retina, Ross M Perez, Yong H Park, Ajeet Singh, Collin Todora, Marlon F Mattos, Daniela Becerril, Rajashree Venkatraman, Arlene A Hirano, Nicholas C Brecha, Rinki Ratnapriya, Benjamin J Frankfort, Elizabeth Zuniga-Sanchez

Faculty, Staff and Students Publications

The precise wiring of the nervous system relies on neurons extending their processes at the right time and place to find their appropriate synaptic partner. The mechanisms that determine when and where neurons extend their neurites during synaptogenesis remains a central question in the field. In the present study, we used a cell culture system coupled with live imaging to investigate the wiring mechanisms in the developing mouse retina. We focused on horizontal cells which are a class of interneurons in the outer mouse retina known to synapse selectively to the distinct types of photoreceptors. Previous research has shown horizontal …

A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Ashley N Triplett, Travis Anderson, Eric G Post, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams

Faculty, Staff and Students Publications

Objective: To determine if paediatric athletes exhibit differences in positive screenings on the Sport Mental Health Assessment Tool (SMHAT-1) compared with adults.

Methods: Team USA Olympic and Paralympic paediatric athletes ≤21 years (n=589; 58.8% female; age=19.5±1.7 years) completed the SMHAT-1 between January 2021 and September 2024. A comparative sample of Team USA adult athletes (n=493, 54.2% female; age=27.3±4.9 years) matched for sex and sport was randomly sampled, and the percentage of athletes with a positive screening on each questionnaire was calculated. χ2 analysis compared the proportion of positive screenings between paediatric and adult samples. Piecewise linear regression assessed the association …

Unraveling Posttranslational Modification Complexity: Advances In Quantitative Histone Proteoform Mass Spectrometry, Karl F Poncha, Alyssa T Paparella, Nicolas L Young

Faculty, Staff and Students Publications

Histone proteins and their posttranslational modifications are central to chromatin structure and function. These modifications often occur in combinations, generating a diverse array of histone proteoforms that contribute to the dynamic regulation of chromatin architecture. Advancements in mass spectrometry-based proteomics, particularly top-down and middle-down approaches, have significantly enhanced our ability to characterize these proteoforms and elucidate PTM crosstalk. This review provides an analysis of the epigenetic machinery involved in the addition, recognition, and removal of histone PTMs, emphasizing the complexity introduced by histone variants and combinatorial PTM patterns. We examine the challenges and limitations of traditional antibody-based methods for PTM …

Esophageal Myotomy And Risk Of Esophageal Cancer And Mortality In Achalasia: Real-World Cohort Study, Fouad Jaber, Mohamad Ali Ibrahim, Mohammed Jaber, Youssef Soliman, Mai A Khalaf, Tara Keihanian, Fares Ayoub, Mohamed O Othman, Salmaan Jawaid

Faculty, Staff and Students Publications

Background and study aims: Achalasia is associated with increased risk of esophageal cancer, particularly squamous cell carcinoma. Although esophageal myotomy improves dysphagia, its impact on cancer risk and mortality remains unclear.

Patients and methods: We conducted a retrospective cohort study using the TriNetX research network, including adults (≥ 18 years) with achalasia confirmed by esophageal manometry. Patients were categorized based on treatment of those undergoing esophageal myotomy (peroral endoscopic myotomy [POEM] or laparoscopic Heller myotomy [LHM]) and those managed without myotomy. Patients with prior esophagectomy or malignancies associated with increased esophageal cancer risk were excluded. The primary outcome was incident …

Definitions Of Arginine Availability: A Critical Metabolic Marker Of Physiological Processes, Mustafa Tosur, Farook Jahoor, Ashok Balasubramanyam

Faculty, Staff and Students Publications

No abstract provided.

Tau In Alzheimer’S Disease: Shaping The Future Patient Journey, Catherine J Mummery, Christopher Chen Li-Hsian, Cristian A Lasagna-Reeves, Rik Ossenkoppele, Christopher C Rowe, Douglas W Scharre, Huali Wang, Simon Kyaga, Jeffrey L Cummings

Faculty, Staff and Students Publications

Alzheimer's disease is a complex and multifactorial disease characterized by two key pathological hallmarks: amyloid-beta plaques and tau neurofibrillary tangles. Recent progress has led to the development and approval of disease-targeted therapies for Alzheimer's disease in the form of anti-amyloid-beta monoclonal antibodies. However, findings suggest that amelioration of multiple pathological drivers may be required to maximize clinical effect. An increasing body of evidence suggests that tau is a critical player in Alzheimer's disease pathophysiology, contributing significantly to neurodegeneration and cognitive decline. There are now several tau-targeting drugs in clinical development. In this review, we build on research and advancements in …

Senolytic-Resistant Senescent Cells Have A Distinct Sasp Profile And Functional Impact: The Path To Developing Senosensitizers, Utkarsh Tripathi, Masayoshi Suda, Vagisha Kulshreshtha, Bryan T Piatkowski, Allyson K Palmer, Nino Giorgadze, Christina Inman, Nathan Gasek, Ming Xu, Kurt O Johnson, Tamar Pirtskhalava, Selim Chaib, Larissa P G Langhi Prata, Yi Zhu, Renuka Kandhaya-Pillai, Stefan G Tullius, Saranya P Wyles, Rambabu Majji, Hari Krishna Yalamanchili, David B Allison, Tamar Tchkonia, James L Kirkland

Faculty, Staff and Students Publications

The senescent cell (SC) fate is linked to aging, multiple disorders and diseases, and physical dysfunction. Senolytics, agents that selectively eliminate 30%-70% of SCs, act by transiently disabling the senescent cell antiapoptotic pathways (SCAPs), which defend those SCs that are proapoptotic and pro-inflammatory from their own senescence-associated secretory phenotype (SASP). Consistent with this, a JAK/STAT inhibitor, Ruxolitinib, which attenuates the pro-inflammatory SASP of senescent human preadipocytes, caused them to become "senolytic-resistant". Administering senolytics to obese mice selectively decreased the abundance of the subset of SCs that is pro-inflammatory. In cell cultures, the 30%-70% of human senescent preadipocytes or human umbilical …

Healing Our Life Source: Riparian Eco-Cultural Restoration In Blue Lake Rancheria At School Creek, A Tributary Of Baduwa't In Northern California, Rae Mcgrath, Lily Moore, Keneti Jesus Pinones, Colin Rogers, Aberdeen Spade

Environmental Science & Management Senior Capstones

School Creek, a tributary in the Baduwa’t (mad river) Watershed, is a riparian corridor that is key habitat for Coho Salmon. This project is under the management of the Blue Lake Rancheria, located on the ancestral home of the Wiyot people, and was conducted by cal poly humboldt students. The restoration of School Creek is an ongoing project aimed at repairing the health of the riparian corridor, improving the creek’s channel structure, and creating a diverse community of culturally significant plant species. Previous restoration efforts have established plantings to further develop the riparian habitat and are surveyed within this report. …

Removal And Monitoring Of Ammophila Arenaria In A Previously Restored Foredune Site In Humboldt Coastal Nature Center, Lucas Benjamin Griffin, Haylee Lynn Kimball, Maya Contreras, Ava Christenson

Environmental Science & Management Senior Capstones

Coastal dunes are important ecosystems that provide vital habitat for rare and endangered species as well as vital ecosystem services. However, since the late nineteenth century, coastal dune ecosystems have been invaded and altered by Ammophila arenaria, which is a beach grass species native to Europe. The dunes within the Humboldt Coastal Nature Center are one such example of this. This property is currently managed by the non-profit organization Friends of the Dunes, which has been working to restore the dunes' ecology and topography. Our project focuses on the monitoring and maintenance of a 2021 restoration project within a 17,794 …

Woody Ryno Farms Native Prairie Plant Restoration & Invasive Management Conservation Management Report, Jezebel Kenny, Rowan Haeger, Ian Mendonca, Annika Weihl

Environmental Science & Management Senior Capstones

Coastal prairies are biodiverse and sensitive landscapes that support a variety of grassland species in mediterranean climates. Hedgerows may act as a natural barrier for coastal prairies or agricultural regions, aiding in natural protection and support for biodiversity. Humboldt County, California, hosts a number of agricultural regions, including Woody Ryno Farms, a small-scale agricultural operation, on the edge of Dows Prairie near the coast of Mckinleyville. This project aims to continue restoration activity being conducted on the site, helping to increase native biodiversity and agricultural productivity. Project objectives include conducting a plant assessment, applying treatments to individual plants where necessary, …

Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Wei Li, Xiaoyi Bai, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Fetuses with fetal growth restriction (FGR) and selective FGR (sFGR) face elevated health risks both before and after birth. Although the underlying pathomechanisms remain unclear, placental dysfunction is recognized as a major contributing factor. By integrating untargeted transcriptomic data from FGR/sFGR placentae, this study identified 69 differentially expressed mRNAs (DEmRs) and eight differentially expressed miRNAs (DEmiRs). Functional enrichment analysis demonstrated significant enrichment in the angiogenesis and vasculogenesis pathways, with the hypoxia-related genes

Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream reuse.

Methods: We describe a document analysis study using both qualitative and comparative law analytical approaches to identify the most common categories of clauses from 29 different data access agreements used by human biomedical research consortia globally. We furthermore characterized the legal positions and standard practices for each common element of the agreement and synthesized across them to develop model clauses. A total of 3 discussion sessions were organized virtually to refine the clauses among members …

Hazel A. Oxenford, Ph.D., Nancy Brown-Peterson

Miscellaneous Documents

No abstract provided.

Professional Quality Of Life Among Medical Surgical And Telemetry Registered Nurses, William Lim, Emy-Lee Marie Anglo Ricafrente, Jenny Carrillo

Publications 2026-present

No abstract provided.