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Articles 1 - 30 of 1674
Full-Text Articles in Neurosciences
Risk Factors Associated With Moderate And Severe Traumatic Brain Injury Mortality In Admitted Older Adults: A Retrospective, Single-Center Study At A Level Ii Trauma Center., Michael Sawyers, Katherine Graham, John Elliott, Jeff Hubartt
Risk Factors Associated With Moderate And Severe Traumatic Brain Injury Mortality In Admitted Older Adults: A Retrospective, Single-Center Study At A Level Ii Trauma Center., Michael Sawyers, Katherine Graham, John Elliott, Jeff Hubartt
Trauma and Acute Care Articles
Purpose: Approximately one in four adults aged ≥65 years experiences a fall each year, and over one-third of these events require medical care. Older adults are at higher risk of complications because of comorbidities. Most prior studies have focused on incidence rather than outcomes, and few have evaluated the association between age and traumatic brain injury (TBI) mortality. This study assessed risk factors and risk-adjusted mortality and morbidity among older adults with moderate or severe TBI.
Methods: We conducted a retrospective review of data from a single-center trauma registry. Inclusion criteria were age ≥65 years, admission ≥3 days (2019-2024), Abbreviated …
Arriving At A Diagnosis: Effective Strategies Used By The Undiagnosed Diseases Network, Somin Hwang, Rachel M Brown, Dustin Baldridge, Erin E Baldwin, Alan H Beggs, Jonathan A Bernstein, Elizabeth Blue, Nicholas A Borja, Lorenzo D Botto, Lauren C Briere, Thomas Cassini, Cecilia Esteves, Elizabeth L Fieg, Gail P Jarvik, Shilpa Nadimpalli Kobren, Mia P Levanto, Julian A Martínez-Agosto, Shruti Marwaha, Stanley F Nelson, Jill A Rosenfeld, Tim Schedl, Tina K Truong, Jennifer A Wambach, Matthew T Wheeler, Shinya Yamamoto, Undiagnosed Diseases Network, Vandana Shashi, Alexa T Mccray, David R Adams, Kimberly Leblanc
Arriving At A Diagnosis: Effective Strategies Used By The Undiagnosed Diseases Network, Somin Hwang, Rachel M Brown, Dustin Baldridge, Erin E Baldwin, Alan H Beggs, Jonathan A Bernstein, Elizabeth Blue, Nicholas A Borja, Lorenzo D Botto, Lauren C Briere, Thomas Cassini, Cecilia Esteves, Elizabeth L Fieg, Gail P Jarvik, Shilpa Nadimpalli Kobren, Mia P Levanto, Julian A Martínez-Agosto, Shruti Marwaha, Stanley F Nelson, Jill A Rosenfeld, Tim Schedl, Tina K Truong, Jennifer A Wambach, Matthew T Wheeler, Shinya Yamamoto, Undiagnosed Diseases Network, Vandana Shashi, Alexa T Mccray, David R Adams, Kimberly Leblanc
Duncan NRI Faculty and Staff Publications
Purpose: Despite the increasing use of exome sequencing (ES) and genome sequencing (GS) in clinical settings, many individuals remain undiagnosed. This study examined the Undiagnosed Diseases Network (UDN)'s approach to establishing diagnoses for participants.
Methods: As a continuation of the first UDN cohort (9/16/2015-5/23/2017), this study reviewed diagnostic strategies and outcomes in the second UDN cohort (5/24/2017-6/30/2023).
Results: Over the study period, the proportion of UDN participants with prior ES/GS increased from 40.2% to 75.0%. The diagnostic rate for the UDN was 22.1% (379/1,713). Reanalysis/reinterpretation of sequencing data (prior ES: 21.4%, prior GS: 2.6%, UDN ES: 4.8%, UDN GS: 17.3%) …
Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier
Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier
Duncan NRI Faculty and Staff Publications
Purpose: Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates across calendar periods, WHO classification editions, geographical settings, and healthcare systems.thetermine METHODS: We analyzed 4,111 patients with primary WHO-1/-2 meningiomas from 31 centers in 15 countries (1990-2019). Recurrence was defined according to local radiological assessment. The 5- and 10-year recurrence risks were estimated using regression standardization with inverse probability of censoring weights, adjusting for key clinical, surgical, and histopathological variables.
Results: Recurrence risk …
Selective Loss Of Primary Cilia And Neurotrophic Signaling In G51d Α-Synuclein Mice Highlights A Common Pathway To Parkinson’S Disease, Yu-En Lin, Ebsy Jaimon, Youngdoo Kim, Annabeth Loftman, Aaran Vijayakumaran, Benjamin D W Belfort, Claire Y Chiang, Benjamin R Arenkiel, Huda Y Zoghbi, Suzanne R Pfeffer
Selective Loss Of Primary Cilia And Neurotrophic Signaling In G51d Α-Synuclein Mice Highlights A Common Pathway To Parkinson’S Disease, Yu-En Lin, Ebsy Jaimon, Youngdoo Kim, Annabeth Loftman, Aaran Vijayakumaran, Benjamin D W Belfort, Claire Y Chiang, Benjamin R Arenkiel, Huda Y Zoghbi, Suzanne R Pfeffer
Duncan NRI Faculty and Staff Publications
Parkinson's disease is characterized by dopaminergic neuron loss and accumulation of α-synuclein aggregates in the brain. G51D α-synuclein knock-in mice provide a genetically and clinically relevant model of disease, exhibiting early olfactory deficits, age-dependent motor impairment, and progressive phospho-α-synuclein accumulation. In multiple Parkinson's disease models, striatal cholinergic and parvalbumin interneurons, as well as astrocytes, lose primary cilia and the neurotrophic signaling needed to sustain dopaminergic neurons. We show here that G51D α-synuclein mice share these phenotypes. Phospho-Ser129 α-synuclein accumulation correlates with cilia loss in cholinergic interneurons but not in spiny projection neurons that accumulate higher phospho-α-synuclein levels. In the piriform …
Lineage Tracing Reveals A Shared Cellular Origin For Supraclavicular Brown And Inguinal Beige Adipocytes, Yali Ran, Kai Zhang, Yi-Ting Shen, Qianxing Mo, Ziyi Wang, Hari Krishna Yalamanchili, Sharon John, Mari Kogiso, Xia Gao, Chunmei Wang, Tanvi Sinha, Brian L Black, Miao-Hsueh Chen
Lineage Tracing Reveals A Shared Cellular Origin For Supraclavicular Brown And Inguinal Beige Adipocytes, Yali Ran, Kai Zhang, Yi-Ting Shen, Qianxing Mo, Ziyi Wang, Hari Krishna Yalamanchili, Sharon John, Mari Kogiso, Xia Gao, Chunmei Wang, Tanvi Sinha, Brian L Black, Miao-Hsueh Chen
Duncan NRI Faculty and Staff Publications
The metabolic importance of brown adipose tissue (BAT) has been recognized, but its origins, particularly supraclavicular BAT (scBAT), remain unclear. Here, we traced scBAT to Mef2c-anterior heart field (AHF)-marked cells. Mef2c-AHF-marked cells isolated from scBAT can spontaneously differentiate into brown adipocytes, express mesenchymal stem cell markers, and can be isolated from the stromal-vascular fraction (SVF) of wild-type scBAT as [CD31
Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza
Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza
Duncan NRI Faculty and Staff Publications
Background: Bipolar disorder (BD) features episodic shifts among mania, hypomania, depression, mixed states, and euthymia. Timely detection of mood transitions is difficult due to infrequent clinical touchpoints. Digital health technologies, including wearables and smartphones, offer a unique opportunity to passively and continuously monitor behavior and physiology that could reflect underlying mood dynamics in real-world settings.
Objective: This study aimed to systematically review passively collected digital markers for BD mood states, characterize devices/modalities and analytic approaches, appraise risk of bias, and identify design gaps and priorities for clinical translation.
Methods: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) …
Relationship Identification Between Triggers And Changes In The Brain And The Overall Human Electrophysiology During Migraines, Dominic Sandell, Jonah Dematto, Gianpiero Lara, Jasmine Rosales, Legacy Wilson, Zachary Young
Relationship Identification Between Triggers And Changes In The Brain And The Overall Human Electrophysiology During Migraines, Dominic Sandell, Jonah Dematto, Gianpiero Lara, Jasmine Rosales, Legacy Wilson, Zachary Young
Discovery Day - Daytona Beach
One of the most common neurological conditions in the world is migraines; nearly 1/4th of the working population suffers from this condition and exhibits a large variety of triggers. The current treatment method for migraine uses few different medications for all migraines, regardless of triggers. Our hypothesis is that there is a specific relationship between the triggers of migraines and the electrical changes in the brain during migraines. It is known that electrical activity in the brain occurs during migraines; it is unclear whether these changes differ across triggers. The study incorporates two different data collection methods: electrophysiological tests (Electroencephalogram …
Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird
Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird
Duncan NRI Faculty and Staff Publications
Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome. A cluster of frameshift-causing C-terminal deletions (CTDs) removes ~100 amino acids and accounts for approximately 10% of RTT-causing mutations. Their pathogenicity is unexpected because this C-terminal domain is dispensable in mice. Analysis of pathogenic and benign human MECP2 variants reveals that some individuals with apparently typical CTDs do not develop Rett syndrome, confirming that C-terminal truncations are not intrinsically pathogenic. Using human sequence data and mouse models we show that pathogenicity results from a marked reduction in MeCP2 levels and depends on the presence of a proline proline …
Shared Neural Geometries For Bilingual Semantic Representations In Human Hippocampal Neurons, Xinyuan Yan, Ana G Chavez, Melissa Franch, Kalman A Katlowitz, Ivy Gautam, Brian Kim, Aaditya Krishna, Aadit Shrivastava, Katie Van Arsdel, James Belanger, Assia Chericoni, Taha Ismail, Elizabeth A Mickiewicz, Danika Paulo, Hanlin Zhu, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Eleonora Bartoli, Nicole R Provenza, Seng Bum Michael Yoo, Benjamin Y Hayden, Sameer A Sheth
Shared Neural Geometries For Bilingual Semantic Representations In Human Hippocampal Neurons, Xinyuan Yan, Ana G Chavez, Melissa Franch, Kalman A Katlowitz, Ivy Gautam, Brian Kim, Aaditya Krishna, Aadit Shrivastava, Katie Van Arsdel, James Belanger, Assia Chericoni, Taha Ismail, Elizabeth A Mickiewicz, Danika Paulo, Hanlin Zhu, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Eleonora Bartoli, Nicole R Provenza, Seng Bum Michael Yoo, Benjamin Y Hayden, Sameer A Sheth
Duncan NRI Faculty and Staff Publications
The human brain has the remarkable ability to comprehend and express similar concepts in multiple languages. To understand how it does so, we examined responses of hippocampal neurons during passive listening, directed speaking, and spontaneous conversation in both English and Spanish in a small group of balanced bilinguals. We found a small number of putative "cross-language neurons," whose responses to equivalent words (e.g., "tierra" and "earth") are correlated. However, neurons' semantic tunings differed substantially by language, suggesting language-specific neural implementations. Instead, the crucial driver of translation was a preserved geometric organization of neural responses between the two languages, one that …
The Effect Of Cerebellar Transcranial Direct Current Stimulation On Anxiety, Shivangi Bhardwaj
The Effect Of Cerebellar Transcranial Direct Current Stimulation On Anxiety, Shivangi Bhardwaj
All-Inclusive List of Electronic Theses and Dissertations
Anxiety is one of the most prevalent mental health disorders in the U.S. Individuals of all ages are affected by anxiety. Therefore, research into anxiety and its potential treatment has constantly been an area of interest. Newer approaches to managing anxiety include non-invasive stimulation techniques, such as Transcranial Direct Current Stimulation (tDCS), because of its accessibility and effectiveness. Past tDCS work typically focused on regions in the frontal lobe. However, tDCS over the cerebellum has not received as much attention compared to the cerebrum, despite recent work demonstrating cerebellar involvement in emotion processing. Thus, a better understanding of how cerebellar …
A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin
A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin
Duncan NRI Faculty and Staff Publications
Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …
Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto
Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto
Duncan NRI Faculty and Staff Publications
Pigmentation plays multiple important roles in development, physiology and evolution. Melanization of the insect cuticle requires dopamine as a precursor of melanin and involves key enzymes in dopamine biosynthesis including Tyrosine hydroxylase (TH) and Dopa decarboxylase (Ddc). Some studies have hinted that disruption of the evolutionarily conserved Hippo signaling pathway, which has been primarily studied in the context of tissue growth, may lead to changes in cuticle pigmentation in the fruit fly Drosophila melanogaster. However, to our knowledge, there have not been any systematic investigations into their potential mechanistic links. In this study, we identified that all genes that comprise …
Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson
Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson
Duncan NRI Faculty and Staff Publications
Admixed populations comprise a large portion of the human population worldwide, but are often excluded from genome-wide association studies (GWASs) due to analytic challenges. Our group developed Tractor, a local-ancestry-informed GWAS tool designed for admixed samples that produces accurate ancestry-specific effect sizes and boosts the discovery power to identify ancestry-enriched loci. However, Tractor operates under an assumption of unrelated samples. Here, to address this gap, we propose Tractor-Mix, which allows for well-calibrated association studies in datasets containing admixed samples with relatedness. Extensive simulations show that this method is competitive with other state-of-the-art approaches that do not produce ancestry-specific results. Empirical …
Antibiotic Administration After Previable Preterm Prelabor Rupture Of Membranes Is Associated With Prolonged Latency, Alexandra L Hammerquist, Alexander M Saucedo, Selina L Bowler, Mohan Pammi, Catherine Eppes, Ignatia Van Den Veyver, Michael D Jochum, Enrico R Barrozo
Antibiotic Administration After Previable Preterm Prelabor Rupture Of Membranes Is Associated With Prolonged Latency, Alexandra L Hammerquist, Alexander M Saucedo, Selina L Bowler, Mohan Pammi, Catherine Eppes, Ignatia Van Den Veyver, Michael D Jochum, Enrico R Barrozo
Duncan NRI Faculty and Staff Publications
Introduction: While antibiotics have been shown to increase the interval to delivery between rupture of membranes and delivery (latency) and improve neonatal outcomes after viable preterm prelabor rupture of membranes (PPROM), this has not been well investigated in the previable PPROM population. We aimed to investigate the association between antenatal antibiotics and latency following previable PPROM. Secondarily, we examined various maternal and neonatal outcomes. We hypothesized that the administration of antibiotics would prolong latency in pregnancies with previable PPROM.
Methods: Single-center retrospective cohort study that included pregnancies diagnosed with previable PPROM between 140/7 and 216/7 and delivered between 2012 and …
Hp1bp3 Loss Links Chromatin Reorganization To Metabolic Vulnerability In Glioma, Brittney Lozzi, Taylor A Gatesman, Pushan Dasgupta, Debosmita Sardar, Yeunjung Ko, Chenyu Mao, Hsiao-Chi Chen, Rachel N Curry, Dongjoo Choi, Carrie A Mohila, Melissa L Bondy, Ganesh Rao, Marco Gallo, Sameer Agnihotri, Benjamin Deneen
Hp1bp3 Loss Links Chromatin Reorganization To Metabolic Vulnerability In Glioma, Brittney Lozzi, Taylor A Gatesman, Pushan Dasgupta, Debosmita Sardar, Yeunjung Ko, Chenyu Mao, Hsiao-Chi Chen, Rachel N Curry, Dongjoo Choi, Carrie A Mohila, Melissa L Bondy, Ganesh Rao, Marco Gallo, Sameer Agnihotri, Benjamin Deneen
Duncan NRI Faculty and Staff Publications
High-grade gliomas (HGGs) are aggressive brain tumors with poor prognosis, driven in part by metabolic and epigenetic adaptations. Methionine metabolism supports HGG growth by supplying S-adenosylmethionine for methylation reactions, yet how nutrient availability influences chromatin organization in HGG remains incompletely understood. Using an immunocompetent mouse model of HGG, we found that dietary methionine restriction reduced tumor proliferation, extended survival, and induced partial nuclear inversion. We identified Hp1bp3 as a key regulator of tumor growth that functions by interacting with nuclear tethering proteins to mediate chromatin reorganization. Loss of Hp1bp3 results in the upregulation of histone demethylases leading to selective depletion …
Activated Dorsomedial Hypothalamic Astrocytes Regulate Feeding Behavior, Bella M. Lisenby
Activated Dorsomedial Hypothalamic Astrocytes Regulate Feeding Behavior, Bella M. Lisenby
Honors Projects
The dorsomedial hypothalamus (DMH) region of the brain has been shown to be important for anticipatory feeding activity and play a role in restricting excessive food intake. In obese animals that overconsume calories, astrocytes within the DMH exhibit intracellular signaling changes indicative of cellular activation. Because astrocytes are known to influence neuronal function, we hypothesize that activated astrocytes regulate behavior. In the current study, we use chemogenetics combined with stereotaxic surgery to assess the contribution of astrocyte activity in the DMH towards metabolic behaviors.
Fentanyl Mediated Distortions Of Phasic Dopamine Release Dynamics Encoding Natural Reward And Aversive Processing In The Mammalian Mesolimbic Circuit, Oliver P. Culver Iv
Fentanyl Mediated Distortions Of Phasic Dopamine Release Dynamics Encoding Natural Reward And Aversive Processing In The Mammalian Mesolimbic Circuit, Oliver P. Culver Iv
MUSC Theses and Dissertations
Mu opioid receptor (MOR) agonists are recognized to disinhibit tonic dopamine (DA) in the ventral striatum (VS), contributing to opioid addiction and euphoria. However, MOR agonists can also inhibit non-drug reward-seeking, and disrupt conditioned responding to aversive stimuli, a phenomenon not readily explained by tonic DA disinhibition. We hypothesized that this effect could be due in part to disruption of phasic DA responses to conditioned stimuli (CS) which critically shape and maintain behaviors during naturalistic reward and aversive processing. Because MOR effects on CS-evoked phasic DA are largely unexamined, we conducted in vivo fiber photometric recordings in water-deprived male and …
Standardizing Nutrition Protocols For Brain Tumor Patients, Wendy Aldrich, Clifford A Pierre, Jun Ma, Mariam Ishaque, Christa Seyler, Miri Kim
Standardizing Nutrition Protocols For Brain Tumor Patients, Wendy Aldrich, Clifford A Pierre, Jun Ma, Mariam Ishaque, Christa Seyler, Miri Kim
All Poster Presentations
No abstract provided.
Rhythms Of Hippocampal Function And Memory After Moderate Prenatal Alcohol Exposure, Lilliana May Sanchez
Rhythms Of Hippocampal Function And Memory After Moderate Prenatal Alcohol Exposure, Lilliana May Sanchez
Psychology ETDs
Fetal Alcohol Spectrum Disorders involve morphologic and neurobiological abnormalities in offspring subjected to prenatal alcohol exposure. Although not as well studied as high exposure, moderate prenatal alcohol exposure represents the most common and undetected form in humans. While learning and memory deficits have been well characterized at the behavioral level in humans with Fetal Alcohol Spectrum Disorders and in animal models of moderate prenatal alcohol exposure, few studies have determined the circuit or systems level mechanisms of the behavioral deficits. A complete understanding of the neural bases of memory deficits after moderate prenatal alcohol exposure is needed to ultimately identify …
Effectiveness Of Cognitive Stimulation Therapy On The Quality Of Life Of Adults With Dementia: A Secondary Analysis, Evelyn Airam
Effectiveness Of Cognitive Stimulation Therapy On The Quality Of Life Of Adults With Dementia: A Secondary Analysis, Evelyn Airam
UNLV Theses, Dissertations, Professional Papers, and Capstones
This secondary analysis study evaluated the effectiveness of Cognitive Stimulation Therapy (CST) on quality of life (QoL), depressive symptoms, and cognitive function in 108 community-dwelling older adults with cognitive impairments, including dementia. Outcomes involved Quality of Life (QoL) measured by the Quality of Life in Alzheimer’s Disease (QoL-AD), symptoms of depression by the Cornell Scale for Depression in Dementia (CSDD), and cognitive function using the Saint Louis University Mental Status (SLUMS). After the CST, significant improvements were observed in QoL (p = .004), depressive symptoms (p = .002), and cognitive function (p < .001), with small effect sizes. Additionally, a significant interaction between sex and dementia diagnosis status was found in predicting cognitive changes, suggesting that the relationship between dementia diagnosis and cognitive improvement differs by sex. No between-group differences were found for QoL or depression. Findings support CST as a multidimensional, non-pharmacological intervention that improves cognitive, psychological, and social outcomes. Although effects were small, consistent improvements are clinically meaningful given the progressive nature of dementia. This study extends existing literature by demonstrating CST’s effectiveness in a community-based setting and reinforces its alignment with occupational therapy’s emphasis on participation and holistic care. Results highlight the need for early intervention and expanded access to CST programs to enhance quality of life in this population.
Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler
Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler
Duncan NRI Faculty and Staff Publications
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, while other patients, including adult males and most affected female carriers, experience a chronic progressive myelopathy. Adrenocortical failure is observed in almost all male patients, with the age of onset varying, sometimes being the first diagnostic finding. The gene underlying this spectrum of disease encodes an ATP-binding cassette (ABC) transporter that …
The Neurobiology Of Interruptions In Emergency Medicine: The Case For Informed Interruption Management In Support Of Cognitive Stability In High-Reliability Clinical Environments, James Espinosa, Henry Schuitema, Alan Lucerna
The Neurobiology Of Interruptions In Emergency Medicine: The Case For Informed Interruption Management In Support Of Cognitive Stability In High-Reliability Clinical Environments, James Espinosa, Henry Schuitema, Alan Lucerna
Rowan-Virtua Research Day
Background: Interruptions are ubiquitous in Emergency Departments (EDs) and have been associated with task delay, multitasking, and increased error risk. While operational and human-factors impacts are well described, the underlying neurocognitive mechanisms remain underexplored. Not all interruptions are avoidable. However, interruptions in emergency medicine represent neurocognitive destabilization events that can degrade task representation and increase vulnerability to error during task resumption. Recognizing the neural mechanisms underlying interruptions reframes their management as a systems-level patient safety priority. The aim is not elimination of clinically necessary communication, but thoughtful reduction, prioritization, and design that protects cognitive stability.
Objective: To synthesize cognitive neuroscience …
Targeting The Dorsolateral Prefrontal Cortex With Transcranial Direct Current Stimulation To Improve Depression And Anxiety In Parkinson's Disease, Brock Renicks
Honors Theses
The aim of this study is to observe the outcomes of transcranial direct current stimulation (tDCS) as a treatment for Parkinson’s Disease (PD). This study will primarily look at changes in depression and anxiety, as these symptoms are often comorbid with Parkinson’s Disease. Transcranial direct current stimulation is a non-invasive, very low-intensity form of electrical stimulation of the brain. It is being increasingly used as a form of treatment for Parkinson’s Disease and depression and anxiety, however the literature is ambiguous, showing mixed results throughout various studies, with no standardization of tDCS administration. To determine the effect of tDCS on …
Evaluating Spect Neuroimaging In Psychiatric Diagnosis: A Critical Review And Proposed Randomized Controlled Study, Kiley Carter
Evaluating Spect Neuroimaging In Psychiatric Diagnosis: A Critical Review And Proposed Randomized Controlled Study, Kiley Carter
Senior Honors Theses
Mental illness affects a substantial proportion of adults in the United States, yet psychiatric diagnosis remains subject to diagnostic variability. Single-photon emission computed tomography (SPECT) is a neuroimaging technique that measures cerebral blood flow and has been proposed as an adjunctive tool for psychiatric evaluation. Existing literature reports group-level perfusion patterns associated with certain psychiatric conditions, suggesting potential utility in diagnosing complex or treatment-resistant cases. However, critics of SPECT emphasize the absence of randomized controlled data demonstrating improved patient outcomes. To address this gap, a prospective randomized controlled trial comparing standard psychiatric care with SPECT-guided evaluation is proposed. The proposed …
Novel Biomarker Discovery In Multiple Sclerosis, Manisha Gangasani
Novel Biomarker Discovery In Multiple Sclerosis, Manisha Gangasani
Honors Theses
Multiple Sclerosis (MS) is a chronic neuroinflammatory disorder affecting the brain, spinal cord, and optic nerve. Patients experience cognitive, motor, autonomic, and emotional symptoms that often overlap with other neurological conditions, making early diagnosis challenging. Current diagnostic criteria require evidence of lesions with dissemination in time and space. Racial disparities in MS outcomes are well documented, with Black individuals often exhibiting greater disease severity, higher relapse rates, and increased disability compared to White individuals. These differences likely reflect a combination of genetic, biological, environmental, and healthcare access factors, underscoring the need to improve early diagnosis and reduce inequities in care. …
Factors Associated With Postpartum Depression Symptoms Following Antepartum Hospitalization, Alison N Goulding, Daniel Palacios, Sukru Aras, Hu Chen, Sasidhar Pasupuleti, Marika Toscano, Nicole Cirino, Israel C Christie, Zhandong Liu, Emily S Miller, Terri L Fletcher
Factors Associated With Postpartum Depression Symptoms Following Antepartum Hospitalization, Alison N Goulding, Daniel Palacios, Sukru Aras, Hu Chen, Sasidhar Pasupuleti, Marika Toscano, Nicole Cirino, Israel C Christie, Zhandong Liu, Emily S Miller, Terri L Fletcher
Duncan NRI Faculty and Staff Publications
Background: Hospitalized antepartum patients are at increased risk for postpartum depression (PPD). Developing approaches to identify those at highest risk for PPD would enable timely and targeted intervention.
Objective: We aimed to identify factors associated with the development of PPD symptoms in hospitalized antepartum patients and to assess their predictive utility.
Study design: This retrospective cohort study included pregnant individuals hospitalized in a regional referral center due to medical or obstetric complications between 2012 and 2025. Data were extracted from the electronic health record, including demographics, medical and obstetric history, hospitalization characteristics, and postpartum Edinburgh Postnatal Depression Scale (EPDS) scores …
Disruption Of The Lrrk2 Substrate Rab12 Facilitates Neurotransmission And Causes Hyperactivity In Mice, Xingjian Li, Yuanxin Chen, Huaixing Wang, Xue Zhang, Noah Guy Lewis Guiberson, Xianting Li, Jacqueline Burré, Junmin Peng, Hui Zhang, Zhenyu Yue
Disruption Of The Lrrk2 Substrate Rab12 Facilitates Neurotransmission And Causes Hyperactivity In Mice, Xingjian Li, Yuanxin Chen, Huaixing Wang, Xue Zhang, Noah Guy Lewis Guiberson, Xianting Li, Jacqueline Burré, Junmin Peng, Hui Zhang, Zhenyu Yue
Department of Neuroscience Faculty Papers
RAB12 is a small GTPase and a validated substrate of LRRK2, a kinase genetically linked to Parkinson's disease (PD). While RAB12-LRRK2 signaling has been implicated in ciliogenesis and immune regulation, the neuronal function of RAB12 remains largely unexplored. Here, we investigated the role of RAB12 in synaptic physiology using Rab12 knockout (KO) mice. Rab12 KO mice developed normally but exhibited increased locomotor activity in adulthood. Electrophysiological recordings from striatal slices revealed enhanced presynaptic release probability and increased excitatory drive onto medium spiny neurons. Consistently, live-cell imaging of cultured cortical neurons revealed that Rab12 deletion facilitated, while Rab12 overexpression inhibited, synaptic …
Investigating Sertraline‑Mediated Modulation Of Succinate Dehydrogenase To Sensitize Tmz‑Resistant Glioblastoma Cells, Supraja Mallapuram
Investigating Sertraline‑Mediated Modulation Of Succinate Dehydrogenase To Sensitize Tmz‑Resistant Glioblastoma Cells, Supraja Mallapuram
Create@State
Glioblastoma (GBM) is one of the deadliest and most common brain tumor which remains highly resistant to temozolomide (TMZ), contributing to poor patient outcomes. Literature suggests that sertraline, a widely used SSRI, disrupts mitochondrial metabolism in cancer cells. Because GBM depends heavily on succinate dehydrogenase (SDH) for oxidative phosphorylation, sertraline‑mediated SDH inhibition may increase metabolic stress and reduce functional TMZ resistance. This poster presents a literature‑based rationale and proposed experimental design to evaluate sertraline‑induced SDH modulation and its potential to sensitize TMZ‑resistant T98G glioblastoma cells. These findings will guide future experimental work.
Evaluating The Utility Of Rnaseq In Prenatal Diagnostics: Expression Profiles Of Cultured Chorionic Villus And Amniotic Fluid Samples, Maria C Vladoiu, Sen Zhao, Roni Zemet, Christian M Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B Van Den Veyver, Pengfei Liu
Evaluating The Utility Of Rnaseq In Prenatal Diagnostics: Expression Profiles Of Cultured Chorionic Villus And Amniotic Fluid Samples, Maria C Vladoiu, Sen Zhao, Roni Zemet, Christian M Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B Van Den Veyver, Pengfei Liu
Duncan NRI Faculty and Staff Publications
Objective: While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples.
Methods: We performed RNAseq on 25 prenatal samples (10 cCVS and 15 cAF) and compared their expression profiles with those of postnatal tissues-blood and skin fibroblasts.
Results: To evaluate the clinical relevance of gene expression in these samples, we curated a list of genes associated with fetal-onset genetic disorders (n = 375). Using this curated list …
Improving Anesthesia Provider Confidence In The Identification, Management, And Treatment Of Postoperative Delirium, Brittany M. Whistle, Charles Dustin Phelps
Improving Anesthesia Provider Confidence In The Identification, Management, And Treatment Of Postoperative Delirium, Brittany M. Whistle, Charles Dustin Phelps
Scholars Week
Purpose: Postoperative Delirium (POD) is a potentially devastating complication of anesthesia that is poorly understood by clinical staff leading to poor outcomes for surgical patients. This study is meant to determine if a focused knowledge presentation accompanied by visual aids could increase anesthesia providers confidence in identifying, diagnosing, and treating Postoperative Delirium.
Methodology: Utilizing a statistical model to analyze respondents results on a standardized test administered before and after an informational presentation with visual aids on the topic of Postoperative Delirium.
Results: Results indicated a statistically significant difference between pretest and posttest scores, with a p-value of .002, t(11) = …