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Curved Confinement Directs Anchoring-Mediated Structural Transitions In Highly Chiral Liquid Crystal Shells, Sepideh Norouzi, Jeremy Money, Stiven Villada-Gil, José Martínez-Gonález, Monirosadat Sadati Aug 2025

Curved Confinement Directs Anchoring-Mediated Structural Transitions In Highly Chiral Liquid Crystal Shells, Sepideh Norouzi, Jeremy Money, Stiven Villada-Gil, José Martínez-Gonález, Monirosadat Sadati

Faculty Publications

Cholesteric liquid crystals (CLCs) confined in curved geometries exhibit a rich spectrum of defectmediated morphologies governed by the interplay between chirality, curvature, surface anchoring, and confinement. This study systematically investigates structural transitions in highly chiral CLC shells under asymmetric anchoring conditions, focusing on the effects of shell thickness and curvature on pitch axis reorientation and defect formation. Utilizing microfluidic techniques, we generate core–shell droplets with independently tunable anchoring at inner and outer aqueous interfaces. Transitioning from planar–planar to planar-homeotropic boundary conditions via surfactant-mediated modulation induces profound reorganizations in the director field, giving rise to focal conic domains (FCDs), stripe patterns, …


Reconsidering “Luxury” Bones: Comprehending The Capacity For Care Coordination In Maine’S Oral Health Policy Environment, Molly S. Williams Aug 2025

Reconsidering “Luxury” Bones: Comprehending The Capacity For Care Coordination In Maine’S Oral Health Policy Environment, Molly S. Williams

All Student Scholarship

Case management takes a comprehensive and coordinated approach to providing healthcare for patients who often have complex or chronic needs. It began as a practice in medical care in the early 1900s, and it has roots in both social welfare and public health. The evolution and formalization in the U.S. medical care system can be traced over time: the earliest practitioners were nurses and social workers engaging with charitable organizations; expansion of some services followed the introduction of general welfare benefits in the Social Security Act and workers’ compensation insurance (1930s); insurance companies began covering services to assist World War …


On The Garoufalidis-Kashaev State-Integral Invariant, Amelia Palmer Dusenbury Aug 2025

On The Garoufalidis-Kashaev State-Integral Invariant, Amelia Palmer Dusenbury

Boise State University Theses and Dissertations

This thesis explores a construction of the family of topological invariants for certain oriented 3-manifolds based on the state-integral approach developed by Andersen, Garoufalidis, and Kashaev in the Archimedean setting. Starting from an ideal triangulation of a 3-manifold equipped with angle data, variables are assigned to the faces and tetrahedra, taking values in a so-called 'Gaussian group'. The invariant is defined by integrating a distribution defined from the combinatorics of the triangulation and a special function over a product of the Gaussian group. The special function is a quantum dilogarithm, whose valuable feature, the pentagon relation, ensures the resulting integral …


Evaluation Of The Psychometric Properties Of The Social Communication Questionnaire In Rural Kenya, Patricia Kipkemoi, Jeanne Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Danielle Posthuma, Charles Newton, Amina Abubakar Aug 2025

Evaluation Of The Psychometric Properties Of The Social Communication Questionnaire In Rural Kenya, Patricia Kipkemoi, Jeanne Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Danielle Posthuma, Charles Newton, Amina Abubakar

Institute for Human Development, East Africa

Children can be reliably diagnosed with autism as early as 3 years of age, and early interventions are initiated. There is often a significant gap between the age of onset of symptoms (2–3 years) and diagnosis (8–10 years) in Africa. We conducted a study to validate the Social Communication Questionnaire (SCQ) as a screening instrument in a rural setting in Kenya. The study was conducted along the Kenyan Coast. Study participants included 172 children with a neurodevelopmental disorder (NDD) diagnosis (84 of which were autism) and 112 controls. Internal consistency was evaluated through the use of Cronbach’s alpha, confirmatory factor …


A Longitudinal Examination Of Online Expressive Writing Intervention Outcomes Comparing Hispanic Survivors Of Childhood Trauma And Adult Trauma, Michiyo Hirai, Laura L. Vernon, George A. Clum Aug 2025

A Longitudinal Examination Of Online Expressive Writing Intervention Outcomes Comparing Hispanic Survivors Of Childhood Trauma And Adult Trauma, Michiyo Hirai, Laura L. Vernon, George A. Clum

Psychological Science Faculty Publications

Childhood traumas such as childhood abuse and neglect are prevalent in Hispanic populations. They have long-term consequences including posttraumatic stress symptoms (PTSS) in adulthood. Treatment options suitable for Hispanic survivors of childhood traumas and neglect are needed. Expressive writing (EW) can be a short, self-administered intervention and may address instrumental barriers (e.g. time, transportation) and stigma toward psychological disorders and interventions Hispanic trauma survivors may experience. Online EW has successfully reduced PTSS when targeting mixed traumas but has not been tested for PTSS from childhood traumas. The current study administered an online EW protocol to symptomatic Hispanic young adults with …


Genetic Study Of Von Willebrand Factor Antigen Levels ≤ 50 Iu/Dl Identifies Variants Associated With Increased Risk Of Von Willebrand Disease And Bleeding, Rachel K Friedman, Adam S Heath, Jennifer E Huffman, James T Baker, Natalie R Hasbani, Sarah A Gagliano Taliun, Ming-Huei Chen, Tom E Howard, Joshua P Lewis, Nathan Pankratz, Snehal Patil, Alex P Reiner, Florian Thibord, Lisa R Yanek, Jie Yao, Hung-Hsin Chen, Joanne E Curran, Nauder Faraday, Xiuqing Guo, Marsha M Wheeler, Kathleen A Ryan, Xiang Zhou, Kelly Cho, Laura Almasy, Paul L Auer, Lewis C Becker, Peter W F Wilson, Eric Boerwinkle, Jeffrey R O'Connell, Stephen S Rich, David C Samuels, National Heart, Lung And Blood Institute (Nhlbi) Trans-Omics For Precision Medicine (Topmed) Consortium, Topmed Hematology & Hemostasis Working Group, Va Million Veteran Program, John Blangero, Myriam Fornage, Charles Kooperberg, Rasika A Mathias, Braxton D Mitchell, Jerome I Rotter, Andrew D Johnson, Nicholas L Smith, Zeynep H Coban-Akdemir, Jennifer E Below, Alanna C Morrison, Jill M Johnsen, Paul S De Vries Aug 2025

Genetic Study Of Von Willebrand Factor Antigen Levels ≤ 50 Iu/Dl Identifies Variants Associated With Increased Risk Of Von Willebrand Disease And Bleeding, Rachel K Friedman, Adam S Heath, Jennifer E Huffman, James T Baker, Natalie R Hasbani, Sarah A Gagliano Taliun, Ming-Huei Chen, Tom E Howard, Joshua P Lewis, Nathan Pankratz, Snehal Patil, Alex P Reiner, Florian Thibord, Lisa R Yanek, Jie Yao, Hung-Hsin Chen, Joanne E Curran, Nauder Faraday, Xiuqing Guo, Marsha M Wheeler, Kathleen A Ryan, Xiang Zhou, Kelly Cho, Laura Almasy, Paul L Auer, Lewis C Becker, Peter W F Wilson, Eric Boerwinkle, Jeffrey R O'Connell, Stephen S Rich, David C Samuels, National Heart, Lung And Blood Institute (Nhlbi) Trans-Omics For Precision Medicine (Topmed) Consortium, Topmed Hematology & Hemostasis Working Group, Va Million Veteran Program, John Blangero, Myriam Fornage, Charles Kooperberg, Rasika A Mathias, Braxton D Mitchell, Jerome I Rotter, Andrew D Johnson, Nicholas L Smith, Zeynep H Coban-Akdemir, Jennifer E Below, Alanna C Morrison, Jill M Johnsen, Paul S De Vries

Faculty, Staff and Student Publications

Background: von Willebrand disease (VWD) is a common inherited bleeding disorder caused by low levels or activity of circulating von Willebrand factor (VWF). Genetic susceptibility to VWF antigen (VWF:Ag) below normal (≤ 50 IU/dL) in the general population is underexplored.

Objectives: To identify genetic variants influencing VWF:Ag levels ≤ 50 IU/dL.

Methods: We performed a genome-wide association study in 926 cases with VWF:Ag levels ≤ 50 IU/dL and 12 846 controls from 7 studies from the Trans-Omics for Precision Medicine program. We then examined whether significant genome-wide findings were also associated with clinical diagnosis of VWD in 5 biobanks with …


Socioeconomic Status Shapes Dyadic Interactions: Examining Behavioral And Physiologic Responses, Jacinth J. X. Tan, Tessa V. West, Wendy B. Mendes Aug 2025

Socioeconomic Status Shapes Dyadic Interactions: Examining Behavioral And Physiologic Responses, Jacinth J. X. Tan, Tessa V. West, Wendy B. Mendes

Research Collection School of Social Sciences

With more opportunities for diverse interactions, little is known about how social interactions involving people of different socioeconomic status (SES) may unfold. We investigated social attunement patterns in dyadic interactions involving SES. Unacquainted individuals recruited from the community interacted with similar-or-different-SES partners in the lab (Ndyads = 130). Attunement was assessed throughout the interaction by examining physiological linkage—how much a person’s physiological change is predicted by another’s physiological change, over time. Overall, low-SES participants showed stronger physiological linkage—indicating greater attunement—to partners across SES. Participants also appeared more comfortable when interacting with low-SES partners. There were no SES differences in dominance …


Language Brokering Conditions The Indirect Association Between Mexican‐Origin Adolescents’ Academic Discrimination And Educational Expectations, Su Yeong Kim, Yayu Du, Chantal Alvarado, Wei Xiang Sim, Wen Wen, Tianlu Zhang, Jingyi Shen Aug 2025

Language Brokering Conditions The Indirect Association Between Mexican‐Origin Adolescents’ Academic Discrimination And Educational Expectations, Su Yeong Kim, Yayu Du, Chantal Alvarado, Wei Xiang Sim, Wen Wen, Tianlu Zhang, Jingyi Shen

Research Collection School of Social Sciences

Mexican‐origin adolescents, a significant portion of the US Latino population, often experience a decline in educational expectations from early to late adolescence. Contextual factors such as academic discrimination and language brokering for parents may contribute to this decline. This study investigates the indirect effect of academic discrimination experienced in middle school on educational expectations in young adulthood through high school grades and engagement, and the moderating role of language brokering experiences in these relations. Data were collected from 604 Mexican‐origin adolescents across four waves from 2012 to 2023. Academic discrimination experiences in middle school were negatively associated with school grades …


Impact Of Non-Uniform Surface Temperature On The Apparent Radiative Properties Of Cavity Receivers, Ehsan Mofidipour, Matthew R. Jones, Brian D. Iverson Aug 2025

Impact Of Non-Uniform Surface Temperature On The Apparent Radiative Properties Of Cavity Receivers, Ehsan Mofidipour, Matthew R. Jones, Brian D. Iverson

Faculty Publications

Radiative surface properties play a critical role in the design, analysis and optimization of solar–thermal systems. Cavity receivers increase the efficiency of solar–thermal energy systems through the cavity effect. The cavity effect refers to increased absorption of radiation due to multiple reflections within a cavity. Apparent radiative surface properties of a cavity characterize the effective interactions of radiation passing through an imaginary surface covering the cavity aperture. In this study, we investigate the extent to which the apparent emissivity of a cavity with a non-uniform surface temperature profile may be estimated using an isothermal enclosure model. A cylindrical cavity was …


The Silent Grief Of Grandmothers After An Out-Of-Order Death—An Interpretative Phenomenological Analysis, Jordan Robertson, Elizabeth Cutrer, Paul Caldarella, Jeremy B. Yorgason, Terrell Young, Erjola Gjini, Sarah Stuart, Savannah Tueller Aug 2025

The Silent Grief Of Grandmothers After An Out-Of-Order Death—An Interpretative Phenomenological Analysis, Jordan Robertson, Elizabeth Cutrer, Paul Caldarella, Jeremy B. Yorgason, Terrell Young, Erjola Gjini, Sarah Stuart, Savannah Tueller

Faculty Publications

This study delves into the lived experiences of grandmothers grappling with grief following the “out-of-order” death of a child, child-in-law, or grandchild, using an Interpretative Phenomenological Analysis grounded in the Dual Process Model-Revised. With 70% of U.S. adults over 65 being grandparents, the research highlights their often-invisible role as both grievers and caregivers amid family loss. Findings reveal three key themes: navigating personal grief, intergenerational support dynamics, and reconstructing family identity. Grandmothers oscillate between loss-oriented and restoration-oriented coping, with grief intensity varying by relational proximity—most profound when losing their own child. They provide emotional and practical support to surviving grandchildren, …


Wildfires Classification In Canadian Boreal Forest: A Comparative Study Of Logistic Regression And Xgboost Models, Brandon Tran, Elijah James Duran, Mike Luu, Hesham Morgan, Surendra Maharjan, Wenzhao Li, Hesham El-Askary Aug 2025

Wildfires Classification In Canadian Boreal Forest: A Comparative Study Of Logistic Regression And Xgboost Models, Brandon Tran, Elijah James Duran, Mike Luu, Hesham Morgan, Surendra Maharjan, Wenzhao Li, Hesham El-Askary

Mathematics, Physics, and Computer Science Faculty Articles and Research

In recent years, Canada has faced a growing number of wildfires. These events have devastated ecosystems, displaced communities, and posed severe health risks. To minimize the damage caused by such disasters, this study aims to develop an early warning system that predicts wildfire occurrences. Two machine learning models for binary classification of wildfire occurrence in Canadian wild forests, Logistic regression and XGBoost, will be compared and evaluated. The models are used to predict the likelihood of wildfire events based on various environmental and climatic factors. The models are evaluated using a 70-30 split validation approach and their performance is assessed …


Decoding Teleconnection Impacts On Hydrological Switches In The Conus Using Wavelet Analysis, Surendra Maharjan, Wenzhao Li, Shahryar Fazli, Hesham Morgan, Hesham El-Askary Aug 2025

Decoding Teleconnection Impacts On Hydrological Switches In The Conus Using Wavelet Analysis, Surendra Maharjan, Wenzhao Li, Shahryar Fazli, Hesham Morgan, Hesham El-Askary

Mathematics, Physics, and Computer Science Faculty Articles and Research

Hydrometeorological teleconnections are key drivers of hydrological processes, representing the influence of large-scale atmospheric circulation patterns on regional climates. Understanding these teleconnections provides crucial insights into the mechanisms underlying hydrometeorological phenomena, particularly hydrological switches—rapid transitions between extreme events such as droughts and floods. These switches have become increasingly prevalent across the contiguous United States (CONUS), fueled by climate variability and evolving atmospheric patterns. This study utilizes cross-wavelet transform analysis to examine the spatial and temporal dynamics of hydrological switches and their correlations with major teleconnection indices, including NAO, ONI, WP, PDO, PNA, and QBO. The findings indicate significant coherence between …


Mode Regulates Alternative Nitrogenase Expression In Themethanogen Methanosarcina Acetivorans, Melissa Chanderban, Daniel J. Lessner Aug 2025

Mode Regulates Alternative Nitrogenase Expression In Themethanogen Methanosarcina Acetivorans, Melissa Chanderban, Daniel J. Lessner

Biological Sciences Faculty Publications and Presentations

All methanogens that can fix nitrogen use molybdenum (Mo) nitrogenase. Some methanogens, including Methanosarcina acetivorans, also contain alternative vanadium- and iron-nitrogenases, encoded by the vnf and anf operons, respectively. These nitrogenases are produced when there is insufficient Mo to support Mo-nitrogenase activity. The factors that control the expression of the alternative nitrogenases in response to Mo availability are unknown in methanogens. Here we show that ModE is the regulator that represses transcription of the vnf and anf operons in M. acetivorans when cells are grown with Mo. CRISPRi repression of modE results in a significant increase in the transcription of …


Night-Time Warming And Prey Availability Interact To Influence Physiology In Prairie Lizards (Sceloporus Consobrinus), Allison R. Litmer, Morgan K. Pelley, Steven J. Beaupre Aug 2025

Night-Time Warming And Prey Availability Interact To Influence Physiology In Prairie Lizards (Sceloporus Consobrinus), Allison R. Litmer, Morgan K. Pelley, Steven J. Beaupre

Biological Sciences Faculty Publications and Presentations

Among ectotherms, temperature and food availability are drivers of individual and population characteristics. Increasing night-time temperatures due to climate change can increase energetic demands, potentially amplified or mitigated by prey consumption. Few studies examine night-time temperatures specifically, and consequences of co-occurring changes in the abiotic and biotic environment. Thus, we examined interactions between warming night-time temperatures and prey availability (as a proxy of foraging time and effectiveness), and how they affect food consumption, digestive passage time, metabolizable energy intake (MEI), assimilated energy, and fecal and urate production in a model organism, prairie lizards (Sceloporus consobrinus). Three temperature treatments (current conditions, …


Internet Of Things And Modern Digital Evidence Collection, Muhammad T. Haider Aug 2025

Internet Of Things And Modern Digital Evidence Collection, Muhammad T. Haider

Student Theses

The ever-evolving landscape of technology and its innovations are populating our houses, streets and all kinds of industries. The use of smart devices is booming from most developed nations to underdeveloped countries. The complications which come with the use of the Internet of Things has been an active discussion for the past many years. If we look around in a room of 30 people, we will most likely find double the amount of IoT devices than the people in that room. All of those devices are connected to the Internet, and are communicating with data servers across the world. The …


Cg18562578 Methylquant Assay For The Discrimination Of Monozygotic Twins, Amber P. Chauca Aug 2025

Cg18562578 Methylquant Assay For The Discrimination Of Monozygotic Twins, Amber P. Chauca

Student Theses

Monozygotic (MZ) twins have identical DNA, making traditional profiling methods insufficient in their discrimination. However, MZ twins can be differentiated by their levels of DNA methylation. Our research group previously developed a methodology to detect cg18562578 DNA methylation levels in MZ twins based on a two- step PCR approach and a cg18562578 MethylQuant Assay. That study generated data for only 64% of the samples it investigated, and showed a discrimination power of 77% to discriminate between MZ twins. Here, we used the same methodology but a different approach to determine DNA methylation in 73 previously unsuccessful twin pairs. We diluted …


Further Investigation Of Environmental Factors On Rapid Shear In Fibers Of A Polyester-Cotton Blend, Daniel K. Oh Aug 2025

Further Investigation Of Environmental Factors On Rapid Shear In Fibers Of A Polyester-Cotton Blend, Daniel K. Oh

Student Theses

Rapid shear is a process that occurs in thermoplastic materials when they interact with a high-velocity impact. In forensics, these interactions would typically be from a bullet interacting with clothing that consisted of synthetic fibers. When the interaction occurs, bulb-like shapes appear on damaged fiber ends, distinguishing them from other kinds of damage. The reason why these shapes occur is varied, but one prevailing factor seems to be the heat generated by the impact.

In prior experiments, the factor of temperature being important to the formation of the phenomenon, different environmental simulations that affected the sample’s temperature were done on …


Bystanders Intervening During Acts Of Cyberbullying: Examining The Moderating Influence Of “Likes” And Pleas For Help, Joseph Kallman Aug 2025

Bystanders Intervening During Acts Of Cyberbullying: Examining The Moderating Influence Of “Likes” And Pleas For Help, Joseph Kallman

Student Theses

Abstract

Cyberbullying research has only recently begun exploring “cyberstanders,” also known as bystanders, and their role in cyberbullying, as well as testing the bystander effect (Barlinska et al., 2013; Machackova et al., 2013; Obermaier et al., 2016; Shultz et al., 2014). In the current study, we aim to deepen our understanding of the bystander effect by manipulating the number of likes, which will indicate the number of bystanders present and the plea for help on social media via Twitter among college students, by examining how participants respond to fictitious cyberbullying incidents. The results of this study did not support our …


Too Big To Fail? Using Microsatellites To Examine The Population Genetics Of Flathead Catfish (Pylodictis Olivaris) In Missouri Impoundments, Aaron Krolow Aug 2025

Too Big To Fail? Using Microsatellites To Examine The Population Genetics Of Flathead Catfish (Pylodictis Olivaris) In Missouri Impoundments, Aaron Krolow

Dissertations

Flathead Catfish (Pylodictis olivaris) is a popular sportfish managed for recreational and commercial uses. Currently, managers in Missouri have implemented various reservoir-specific bag and length limits for P. olivaris to create sustainable populations of quality-sized individuals available for anglers to capture. In conjunction with field studies to estimate growth rates and size/age distributions, I developed and scored 15 microsatellite markers to estimate the effective population (Ne) and population structure within 10 Missouri reservoirs. I assessed the power of the markers to get acceptably precise estimates of Ne using NEoGen assuming life-history parameters (e.g., age at maturity, longevity and fecundity) estimated …


Understanding The Experiences And Perceptions Of Faculty Supporting Undergraduate Students With Mental Health Challenges, Jenna Ranee Parbati Jamieson Aug 2025

Understanding The Experiences And Perceptions Of Faculty Supporting Undergraduate Students With Mental Health Challenges, Jenna Ranee Parbati Jamieson

Dissertations

College is a big adjustment for students, and it doesn't come without its challenges, including being in a new place with new responsibilities. This is a stressful time that presents new obstacles and frustrations that can lead to increased stress, anxiety, depression, and mental health challenges that may cause faculty to engage and support undergraduate students with mental health challenges. As students adjust and transition to college, it is vital for university faculty to feel confident and comfortable supporting students from diverse backgrounds with varying levels of distress. By interviewing faculty, a better understanding of their lived experiences and perceptions …


Difficulty In American Dramatic Literature, David Turkel Aug 2025

Difficulty In American Dramatic Literature, David Turkel

Dissertations

Speaking broadly, this dissertation explores the marginalization of American drama within the field of literary studies. In attempting to account for this marginalization, theater scholars have tended to invoke the genre’s supposed lack of “difficulty,” meaning its failure to pose meaningful interpretive challenges to its readers. However, this dissertation takes an alternative view of the matter, contending that if American drama has indeed been marginalized, it is not because literary studies departments have regarded it as intrinsically “simpler” than other literary genres; in fact, it is theater scholars who have been more likely to read the genre as simple, or …


Addressing Anxiety And Depression In The Allergy Clinic Through Motivational Interviewing, Brief Cognitive Behavioral Therapy, And Curious Questions, Marylee Verdi, Dominic Candido, Juliette Madan, Jonathan A Bernstein, Don Bukstein, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Julie Wang, Anna Nowak-Wegrzyn, Elissa M Abrams, John Oppenheimer, Alexandra E Conway, Andrew A White, Taylor A Doherty, Richard P Morse, Marcus Shaker Aug 2025

Addressing Anxiety And Depression In The Allergy Clinic Through Motivational Interviewing, Brief Cognitive Behavioral Therapy, And Curious Questions, Marylee Verdi, Dominic Candido, Juliette Madan, Jonathan A Bernstein, Don Bukstein, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Julie Wang, Anna Nowak-Wegrzyn, Elissa M Abrams, John Oppenheimer, Alexandra E Conway, Andrew A White, Taylor A Doherty, Richard P Morse, Marcus Shaker

Faculty, Staff and Students Publications

Allergic diseases, particularly food allergy, can be associated with significant psychosocial impairment. Allergist-immunologists can provide evidence-based information to correct misperceptions and misunderstandings regarding food allergy that may perpetuate cycles of fear and anxiety. Whereas motivational interviewing can be an empathetic approach to empower patients to actualize health goals, cognitive behavioral therapy (CBT) aims to provide disease-state insight to facilitate an understanding of risk that can transform health beliefs and behaviors. Brief CBT is a clinical approach that can help address ineffective management paradigms through conversations that begin with curious questions. In this review, we discuss evidence supporting implementation of an …


Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann Aug 2025

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

Faculty, Staff and Students Publications

Objective: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.

Methods: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.

Results: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …


Parabolic Flight As A Research Platform To Investigate Ophthalmic Changes In Microgravity, Tuan Nguyen, Joshua Ong, Sarah Aman, Alex Weaver, Ana Garcia, Amy Song, Fatma Shakarchi, Ethan Waisberg, Andrew G Lee Aug 2025

Parabolic Flight As A Research Platform To Investigate Ophthalmic Changes In Microgravity, Tuan Nguyen, Joshua Ong, Sarah Aman, Alex Weaver, Ana Garcia, Amy Song, Fatma Shakarchi, Ethan Waisberg, Andrew G Lee

Faculty, Staff and Students Publications

Parabolic flight serves as an important terrestrial analog to study acute physiological changes in microgravity without the need for space travel. During a parabolic flight, alternating hypergravity and microgravity phases, lasting up to 40 seconds, enable research into ophthalmic changes. In this review, we discuss the application of parabolic flight as a platform to study microgravity-related changes that might impact ophthalmology including intraocular pressure, intracranial pressure, choroidal blood flow, and modified eye movement patterns. We further highlight how these insights could aid our understanding of vestibulo-ocular reflexes and conditions such as Spaceflight Associated Neuro-ocular Syndrome (SANS). While the brief duration …


Impaired Rest-Activity Rhythm Characteristics Predict Higher Risk Of Incident Type 2 Diabetes In Uk Biobank Participants, Chris Ho Ching Yeung, Alison K Wright, Daniel P Windred, Angus C Burns, Andrew J K Phillips, Sean W Cain, Martin K Rutter, Qian Xiao Aug 2025

Impaired Rest-Activity Rhythm Characteristics Predict Higher Risk Of Incident Type 2 Diabetes In Uk Biobank Participants, Chris Ho Ching Yeung, Alison K Wright, Daniel P Windred, Angus C Burns, Andrew J K Phillips, Sean W Cain, Martin K Rutter, Qian Xiao

Faculty, Staff and Student Publications

Objective: Circadian rhythms play a key role in metabolic health. Rest-activity rhythms, which are in part driven by circadian rhythms, may be associated with diabetes risk. There is a need for large prospective studies to comprehensively examine different rest-activity metrics to determine their relative strength in predicting risk of incident type 2 diabetes.

Research design and methods: In actigraphy data from 83,887 UK Biobank participants, we applied both parametric and nonparametric algorithms to derive 13 different metrics characterizing different aspects of rest-activity rhythm. Diabetes cases were identified using both self-reported data and health records. We used Cox proportional hazards models …


Trends In Glucagon-Like Peptide 1 Receptor Agonist Prescribing Patterns, Maria Ukhanova, Joseph S Wozny, Chau N Truong, Lopita Ghosh, Trudy M Krause Aug 2025

Trends In Glucagon-Like Peptide 1 Receptor Agonist Prescribing Patterns, Maria Ukhanova, Joseph S Wozny, Chau N Truong, Lopita Ghosh, Trudy M Krause

Faculty, Staff and Student Publications

Objective: Obesity affects more than 40% of US adults, increasing risks for cardiovascular disease and type 2 diabetes. Glucagon-like peptide 1 receptor agonists (GLP-1 RAs), initially indicated for diabetes, show promise in weight loss but face coverage issues, high costs, and premature prescribing from physicians. Research is needed to assess prescribing patterns, especially in patients without diabetes.

Study design: We conducted a retrospective, population-based, observational study using the Merative MarketScan Commercial Database and the Merative MarketScan Medicare Supplemental Database, which capture person-specific clinical utilization and expenditures. We analyzed GLP-1 RA prescribing rates from 2018 to 2023, comparing semaglutide with other …


Computational Frameworks To Unravel The Immune Landscape, Shan He Aug 2025

Computational Frameworks To Unravel The Immune Landscape, Shan He

Dissertations and Theses (Open Access)

Recent advances in immunotherapy, including immune checkpoint blockade (ICB) and adoptive cell therapy, face challenges such as resistance and immune-related adverse events, partly due to our limited understanding of the immune signaling pathways. While high- throughput genomic data provide unprecedented resolution into these immune pathways, their full potential is limited by the lack of well-annotated, context-specific immune gene sets. To address this need, I developed a workflow to construct immune gene sets by integrating RNA- seq datasets and performing decomposition. Using this approach, I constructed 28 immune- specific gene sets from 83 bulk RNA-seq datasets and 12 Natural Killer (NK) …


Use Of The Protein Misfolding Cyclic Amplification For Food Safety And Drug Discovery, Maria R. Benavente Garcia-Huidobro Aug 2025

Use Of The Protein Misfolding Cyclic Amplification For Food Safety And Drug Discovery, Maria R. Benavente Garcia-Huidobro

Dissertations and Theses (Open Access)

Prion diseases are fatal neurodegenerative disorders caused by the misfolding of the normal prion protein (PrPC) into its infectious form (PrPSc). While the zoonotic potential of chronic wasting disease (CWD) remains uncertain, the presence of prions in food products raises public health concerns. Additionally, therapeutic strategies for prion diseases remain limited. This thesis presents a methodological exploration of the Protein Misfolding Cyclic Amplification (PMCA) technique to address these challenges in two key areas: (1) detecting CWD prions in processed meats subjected to common cooking procedures, and (2) identifying potential anti-prion compounds through a high-throughput PMCA adaptation. …


Effects Of Sex And Aging In The Response To Global Cerebral Hypoperfusion, Alexis Mcalister Aug 2025

Effects Of Sex And Aging In The Response To Global Cerebral Hypoperfusion, Alexis Mcalister

Dissertations and Theses (Open Access)

Introduction

The prevalence of dementia worldwide is projected to double by the year 2030 and triple by 2050. Vascular cognitive impairment and dementia (VCID) encompasses diseases that lead to cognitive decline and dementia due to cerebrovascular disease. VCID is the second most common form of dementia after Alzheimer’s disease, accounting for approximately 15- 40% of all dementia cases. Reductions in cerebral blood flow from intracranial and extracranial atherosclerosis increase VCID risk, even in the absence of overt clinical or imaging evidence of stroke/embolization. The pathology seen in patients with chronic cerebral hypoperfusion, such as inflammation, neuronal loss, white matter abnormalities, …


Microbial Metabolite Regulation Of Microglial Ahr Signaling In Alzheimer’S Disease, Ghalya E. Alrousan Aug 2025

Microbial Metabolite Regulation Of Microglial Ahr Signaling In Alzheimer’S Disease, Ghalya E. Alrousan

Dissertations and Theses (Open Access)

Introduction: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by amyloid-β plaque accumulation, neuroinflammation, and cognitive decline. Recent evidence suggests that systemic factors, particularly the gut microbiota and its metabolites, play a significant role in shaping brain immune responses, including microglial activation. However, the mechanisms linking gut dysbiosis to microglial dysfunction in AD are poorly understood. The aryl hydrocarbon receptor (AHR), a ligand-activated transcription factor responsive to tryptophan metabolites, has recently gained attention as a key regulator of neuroinflammation and microglial function. I hypothesize that the loss of beneficial microbial AHR ligands, specifically indole derivatives, during aging and AD …