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Comparative Transcriptomic Analysis Of Mouse Macrophages Infected With Live Attenuated Vaccine Strains Of Mycobacterium Tuberculosis, Raja Veerapandian, Barbara Yang, Areanna Carmona, Melina J. Sedano, Victoria Reid, Rodrigo Jimenez, Jessica Chacon, Chinnaswamy Jagannath, Enrique I. Ramos, Shrikanth Gadad, Subramanian Dhandayuthapani Jul 2025

Comparative Transcriptomic Analysis Of Mouse Macrophages Infected With Live Attenuated Vaccine Strains Of Mycobacterium Tuberculosis, Raja Veerapandian, Barbara Yang, Areanna Carmona, Melina J. Sedano, Victoria Reid, Rodrigo Jimenez, Jessica Chacon, Chinnaswamy Jagannath, Enrique I. Ramos, Shrikanth Gadad, Subramanian Dhandayuthapani

School of Medicine Publications

The BCG vaccine has been used against tuberculosis (TB) for over a hundred years; however, it does not protect adults from pulmonary TB. To develop alternative vaccines against TB, we generated Mycobacterium tuberculosis H37Rv (Mtb)-derived vaccine strains by rationally deleting key virulent genes, resulting in single (SKO; ΔfbpA), double (DKO; ΔfbpA-ΔsapM), triple (TKO-D; ΔfbpA-ΔsapM-ΔdosR and TKO-Z; ΔfbpA-ΔsapM-Δzmp1), and quadruple (QKO; ΔfbpA-ΔsapM-Δzmp1-dosR) strains. To understand how macrophages, the host cells that defend against infection and process antigens for presentation to immune cells, respond to these vaccine strains, we performed transcriptomic analyses of mouse bone marrow-derived macrophages …


Assessment Of Incisive Canal Morphology And Position In A Sample Of Egyptian Population: A Cone Beam Computed Tomography Study, Sherif Shafik Jul 2025

Assessment Of Incisive Canal Morphology And Position In A Sample Of Egyptian Population: A Cone Beam Computed Tomography Study, Sherif Shafik

Dentistry

ABSTRACT Several studies have highlighted the diversity in the anatomy of the incisive canal. Evaluation of incisive canal as well as its approximation to the maxillary incisor root is crucial before orthodontic treatment, implant placement and other surgical procedures in the anterior maxillary area. Cone beam computed tomography (CBCT) provides detailed three-dimensional information and have been used to evaluate the nasopalatine region with high accuracy along with relative safety due to low radiation exposure. Aim: The study aimed to provide analysis of the nasopalatine canal anatomy using cone-beam computed tomography (CBCT) in a sample of the Egyptian population. Materials & …


Assessment Of Incisive Canal Morphology And Position In A Sample Of Egyptian Population: A Cone Beam Computed Tomography Study., Caroline Maged Massieh, Hisham Mohamed El Sheikh, Magdy Fouad Youakim, Sherif Shafik El Bahnasy Jul 2025

Assessment Of Incisive Canal Morphology And Position In A Sample Of Egyptian Population: A Cone Beam Computed Tomography Study., Caroline Maged Massieh, Hisham Mohamed El Sheikh, Magdy Fouad Youakim, Sherif Shafik El Bahnasy

Dentistry

Several studies have highlighted the diversity in the anatomy of the incisive canal. Evaluation of incisive canal as well as its approximation to the maxillary incisor root is crucial before orthodontic treatment, implant placement and other surgical procedures in the anterior maxillary area. Cone beam computed tomography (CBCT) provides detailed three-dimensional information and have been used to evaluate the nasopalatine region with high accuracy along with relative safety due to low radiation exposure. Aim: The study aimed to provide analysis of the nasopalatine canal anatomy using cone-beam computed tomography (CBCT) in a sample of the Egyptian population. Materials & methods: …


Evaluating The Ulf Mri (0.64t) Image Quality Through In Vivo Test-Retest, Md Imran Hossain Jul 2025

Evaluating The Ulf Mri (0.64t) Image Quality Through In Vivo Test-Retest, Md Imran Hossain

Master's Theses (2009 -)

Ultra-low-field (ULF) MRI systems, such as the Hyperfine Swoop (64mT), represent a transformative advancement in neuroimaging by offering portable, affordable alternatives to conventional high-field MRI. This system has the potential to significantly expand access to diagnostic imaging in resource-limited, emergency, and point-of-care settings. This study evaluates the clinical reliability and reproducibility of the Hyperfine Swoop by conducting a series of controlled in vivo test-retest scans on a single participant. Quantitative assessment of brain image quality was performed using voxel volume consistency and the Structural Similarity Index Measure (SSIM). The results demonstrated high intra-subject repeatability with minimal variation across sessions, underscoring …


Low-Magnitude High-Frequency Mechanical Vibration Enhances Osteogenesis In Human Pdl Cells Through Piezo1 Ion Channel, Mina Oh Jul 2025

Low-Magnitude High-Frequency Mechanical Vibration Enhances Osteogenesis In Human Pdl Cells Through Piezo1 Ion Channel, Mina Oh

Master's Theses (2009 -)

ABSTRACT LOW-MAGNITUDE HIGH-FREQUENCY MECHANICAL VIBRATION ENHANCES OSTEOGENESIS IN HUMAN PDL CELLS THROUGH PIEZO1 ION CHANNEL Mina Oh, D.M.D Marquette University, 2025 Introduction: Low-magnitude high-frequency (LMHF) mechanical vibration has been shown to enhance osteogenesis in various osteogenic tissues and cells, including periodontal ligament (PDL) cells, however its effectiveness remains relatively low. The Piezo1 mechanosensitive ion channel plays a critical role in mechanotransduction, however its specific involvement in the LMHF-induced osteogenesis is unknown. This study aims to elucidate the role of Piezo1 in mediating osteogenic responses in human PDL cells subjected to LMHF mechanical vibration. Materials and Methods: Human PDL cells were …


Meta-Analysis Of Uveal Melanoma Genome-Wide Association Studies Identifies Novel Risk Loci And Population Effect Size Heterogeneity., Georgia Mies, Noah L. Tsao, Alexandre Houy, Sarah E. Coupland, Helen Kalirai, Asta Försti, Kari Hemminki, Hauke Thomsen, Marc-Henri Stern, Carol L. Shields, Scott M. Damrauer, Katheryn G. Ewens, Arupa Ganguly, Iain Mathieson Jul 2025

Meta-Analysis Of Uveal Melanoma Genome-Wide Association Studies Identifies Novel Risk Loci And Population Effect Size Heterogeneity., Georgia Mies, Noah L. Tsao, Alexandre Houy, Sarah E. Coupland, Helen Kalirai, Asta Försti, Kari Hemminki, Hauke Thomsen, Marc-Henri Stern, Carol L. Shields, Scott M. Damrauer, Katheryn G. Ewens, Arupa Ganguly, Iain Mathieson

Wills Eye Hospital Papers

Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases and conduct a meta-analysis with three independent previously published cohorts for a total sample size of 2,426 cases. We confirm the three previously identified risk loci and identify four additional genome-wide significant loci. We find that eye pigmentation-decreasing variants are systematically associated with increased UM risk and that selection for lighter pigmentation in the past 5,000 years explains about 73% of the difference in UM incidence between …


Salinity And Moisture Influence Co2 And Ch4 Emissions From High-Latitude Coastal Soils, B. N. Barr, K. C. Kelsey, A. J. Leffler, M. Petit Bon, K. H. Beard Jul 2025

Salinity And Moisture Influence Co2 And Ch4 Emissions From High-Latitude Coastal Soils, B. N. Barr, K. C. Kelsey, A. J. Leffler, M. Petit Bon, K. H. Beard

Wildland Resources Faculty Publications

Sea level rise and more frequent and larger storms will increase saltwater flooding in coastal terrestrial ecosystems, altering soil-atmosphere CO2 and CH4 exchange. Understanding these impacts is particularly relevant in high-latitude coastal soils that hold large carbon stocks but where the interaction of salinity and moisture on greenhouse gas flux remains unexplored. Here, we quantified the effects of salinity and moisture on CO2 and CH4 fluxes from low-Arctic coastal soils from three landscape positions (two Wetlands and Upland Tundra) distinguished by elevation, flooding frequency, soil characteristics, and vegetation. We used a full factorial laboratory incubation experiment …


The Impacts Of Ocean Warming On Phytoplankton Dynamics And Links To Fisheries Management Around St Helena Island, South Atlantic Ocean, Shelby Bargo Jul 2025

The Impacts Of Ocean Warming On Phytoplankton Dynamics And Links To Fisheries Management Around St Helena Island, South Atlantic Ocean, Shelby Bargo

The Plymouth Student Scientist

In the context of a rapidly changing climate, understanding how ocean warming is reshaping the foundation of marine ecosystems has never been more important. This research investigates factors contributing to ocean warming, and where anthropogenically influenced climate change plays a critical role in the functionality of the physical marine environment, phytoplankton, and trophodynamics throughout the pelagic zone. Phytoplankton, whilst microscopic, are vital; they are regulated by physical oceanographic factors that control their access to growth-limiting factors, such as nutrients. With the formidable climate-driven physical and biological changes occurring in the marine environment, alongside the decline in fish stocks, it is …


An Upper-Mesopelagic-Zone Carbon Budget For The Subarctic North Pacific, Brandon M. Stephens, Montserrat Roca-Martí, Amy E. Maas, Vinícius J. Amaral, Samantha Clevenger, Shawnee Traylor, Claudia R. Benitez-Nelson, Philip W. Boyd, Ken O. Buesseler, Craig A. Carlson, Nicolas Cassar, Margaret Estapa, Andrea J. Fassbender, Yibin Huang, Phoebe J. Lam, Oliver Marchal, Susanne Menden-Deuer, Nicola L. Paul, Alyson E. Santoro, David A. Siegel, David P. Nicolson Jul 2025

An Upper-Mesopelagic-Zone Carbon Budget For The Subarctic North Pacific, Brandon M. Stephens, Montserrat Roca-Martí, Amy E. Maas, Vinícius J. Amaral, Samantha Clevenger, Shawnee Traylor, Claudia R. Benitez-Nelson, Philip W. Boyd, Ken O. Buesseler, Craig A. Carlson, Nicolas Cassar, Margaret Estapa, Andrea J. Fassbender, Yibin Huang, Phoebe J. Lam, Oliver Marchal, Susanne Menden-Deuer, Nicola L. Paul, Alyson E. Santoro, David A. Siegel, David P. Nicolson

Faculty Publications

Mesopelagic zone (MZ) carbon budgets comparing supply with demand can be difficult to constrain due to the temporal and spatial offsets between key sources and sinks, their associated uncertainties, and potential sampling biases. To address these challenges, the EXport Processes in the Ocean from RemoTe Sensing (EXPORTS) campaign increased the number and variety of simultaneous measurements to monitor temporal variability in the MZ carbon budget using both a Lagrangian frame of reference and long-term autonomous observations. In this study, we collate a comprehensive combination of new and previously published organic carbon supply and demand measurements collected from the surface (5 …


Comprehensive Resolution And Classification Of The Epstein Barr Virus Transcriptome, Truong D. Nguyen, Jia Wang, Meggie T. Lam, Harris Mcferrin, Tina M. O’Grady, Claire Roberts, Nicholas Van Otterloo, Trang T. Nguyen, Melody Baddoo, Dorota Wyczechowska, Maria Morales, Yan Dong, Erik K. Flemington Jul 2025

Comprehensive Resolution And Classification Of The Epstein Barr Virus Transcriptome, Truong D. Nguyen, Jia Wang, Meggie T. Lam, Harris Mcferrin, Tina M. O’Grady, Claire Roberts, Nicholas Van Otterloo, Trang T. Nguyen, Melody Baddoo, Dorota Wyczechowska, Maria Morales, Yan Dong, Erik K. Flemington

School of Graduate Studies Faculty Publications

Virus genomes harbor compacted repertoires of genes and regulatory elements. Through long-read sequencing, we provide a comprehensive Epstein Barr virus (EBV) transcriptome analysis, identifying 1453 transcript isoforms and resolving the major isoform of all but one lytic reading frame. Further, we categorize each transcript according to their dependence on viral DNA replication. We show that the late gene viral preinitiation complex, vPIC also activates early promoters/genes, we identify active alternate promoters with distinct dependencies on viral DNA replication, we discover biphasic promoters with embedded features of both early and late promoters. Genetic and chromatin interaction studies identify an enhancer function …


Global Diversity Of Soil-Transmitted Helminths Reveals Population-Biased Genetic Variation That Impacts Diagnostic Targets, Marina Papaiakovou, Andrea Waeschenbach, Olumide Ajibola, Sitara Sr Ajjampur, Roy M Anderson, Robin Bailey, Jade Benjamin-Chung, Maria Cambra-Pellejà, Nicolas R Caro, David Chaima, Rubén O Cimino, Piet Cools, Anélsio Cossa, Julia Dunn, Sean Galagan, Javier Gandasegui, Berta Grau-Pujol, Emma L Houlder, Moudachirou Ibikounlé, Timothy P Jenkins, Khumbo Kalua, Eyrun F Kjetland, Alejandro J Krolewiecki, Bruno Levecke, Adrian Jf Luty, Andrew S Macdonald, Inácio Mandomando, Malathi Manuel, Maria Martínez-Valladares, Rojelio Mejia, Zeleke Mekonnen, Augusto Messa, Harriet Mpairwe, Osvaldo Muchisse, Jose Muñoz, Pauline Mwinzi, Valdemiro Novela, Maurice R Odiere, Charfudin Sacoor, Judd L Walson, Steven A Williams, Stefan Witek-Mcmanus, D Timothy J Littlewood, Cinzia Cantacessi, Stephen R Doyle Jul 2025

Global Diversity Of Soil-Transmitted Helminths Reveals Population-Biased Genetic Variation That Impacts Diagnostic Targets, Marina Papaiakovou, Andrea Waeschenbach, Olumide Ajibola, Sitara Sr Ajjampur, Roy M Anderson, Robin Bailey, Jade Benjamin-Chung, Maria Cambra-Pellejà, Nicolas R Caro, David Chaima, Rubén O Cimino, Piet Cools, Anélsio Cossa, Julia Dunn, Sean Galagan, Javier Gandasegui, Berta Grau-Pujol, Emma L Houlder, Moudachirou Ibikounlé, Timothy P Jenkins, Khumbo Kalua, Eyrun F Kjetland, Alejandro J Krolewiecki, Bruno Levecke, Adrian Jf Luty, Andrew S Macdonald, Inácio Mandomando, Malathi Manuel, Maria Martínez-Valladares, Rojelio Mejia, Zeleke Mekonnen, Augusto Messa, Harriet Mpairwe, Osvaldo Muchisse, Jose Muñoz, Pauline Mwinzi, Valdemiro Novela, Maurice R Odiere, Charfudin Sacoor, Judd L Walson, Steven A Williams, Stefan Witek-Mcmanus, D Timothy J Littlewood, Cinzia Cantacessi, Stephen R Doyle

Faculty, Staff and Students Publications

Soil-transmitted helminths (STHs) are intestinal parasites that affect over a billion people worldwide. STH control relies on microscopy-based diagnostics to monitor parasite prevalence and enable post-treatment surveillance; however, molecular diagnostics are rapidly being developed due to increased sensitivity, particularly in low-STH-prevalence settings. The genetic diversity of helminths and its potential impact on molecular diagnostics remain unclear. Using low-coverage genome sequencing, we assess the genetics of STHs within worm, faecal, and purified egg samples from 27 countries, identifying differences in the genetic connectivity and diversity of STH-positive samples across regions and cryptic diversity between closely related human- and pig-infective species. We …


2024 Hon. James R. Browning Symposium Keynote Address: Martin, Grants Pass, And Houselessness As A Class, Howard Belodoff Jul 2025

2024 Hon. James R. Browning Symposium Keynote Address: Martin, Grants Pass, And Houselessness As A Class, Howard Belodoff

Montana Law Review

No abstract provided.


Cannabis And Covid: An Interrupted Time Series Analysis Of Their Impact On Mental Health-Related Hospital Visits In Rural Arizona (2016-2023), Jennifer Megan Suter Jul 2025

Cannabis And Covid: An Interrupted Time Series Analysis Of Their Impact On Mental Health-Related Hospital Visits In Rural Arizona (2016-2023), Jennifer Megan Suter

Walden Dissertations and Doctoral Studies

Arizona’s rural communities face shortages in mental health care services. In 2020, the nearly simultaneous onset of the COVID-19 pandemic and the legalization of recreational cannabis introduced overlapping public health stressors that may have disproportionately affected these vulnerable populations. However, their combined impact on rural mental health remains understudied. This three-manuscript dissertation employed interrupted time series analyses to assess how these events influenced monthly hospital visits for schizophrenia, psychosis, cannabis-induced psychosis, and suicidal behaviors among rural Arizona adults aged 21 and older. A total of 16,468 records from the Arizona State Inpatient and Emergency Department Databases (SID and SEDD) met …


The Role Of Ecosystem Services In Holistic Conservation Within Protected Areas: A Case Study Of The Song Thanh National Park, Vietnam, Tuyen Nghiem, Sumeet Saksena, Hue T. Ha, Truong Dao, Toan Le, Huong D. Vu, Dien Nguyen, Truong Q. Hoc Jul 2025

The Role Of Ecosystem Services In Holistic Conservation Within Protected Areas: A Case Study Of The Song Thanh National Park, Vietnam, Tuyen Nghiem, Sumeet Saksena, Hue T. Ha, Truong Dao, Toan Le, Huong D. Vu, Dien Nguyen, Truong Q. Hoc

Forest and Society

Vietnam has made a strong commitment to biodiversity conservation, as evidenced by its extensive network of protected areas. However, environmental issues persist in protected areas. Often, the resulting violence complicates the situation, making it more challenging to analyze and manage. We studied the perceptions of people in the buffer zone of the Song Thanh National Park, Quang Nam province, regarding the current status of ecosystem services (ES), the importance of ecosystem services, their changes over time, and people's participation in protecting ecosystem services. We employed a mixed-methods approach, combining qualitative and quantitative data. We conducted semi-structured interviews, focus group discussions, …


Community Perspectives On Engaging Stakeholders For Human-Sumatran Tiger Coexistence In The Bukit Barisan Selatan Landscape, Rinekso Soekmadi, Novriyanti Novriyanti, Burhanuddin Masy’Ud, Damayanti Buchori, Christine Wulandari, Ismanto Ismanto Jul 2025

Community Perspectives On Engaging Stakeholders For Human-Sumatran Tiger Coexistence In The Bukit Barisan Selatan Landscape, Rinekso Soekmadi, Novriyanti Novriyanti, Burhanuddin Masy’Ud, Damayanti Buchori, Christine Wulandari, Ismanto Ismanto

Forest and Society

The Bukit Barisan Selatan (BBS) landscape, a vital habitat for the Sumatran tiger (Panthera tigris sumatrae), is increasingly degraded and fragmented by plantation and agricultural expansion, driving tigers into human-dominated areas and creating conflict zones beyond conservation boundaries. However, despite global frameworks like the Kunming-Montreal 2050 Biodiversity Framework and IUCN advocating coexistence by integrating ecological and socio-economic priorities, the practical implementation at the site level remains uncertain, particularly regarding local perspectives on coexistence and their alignment with competing stakeholder interests. This study analyzes the alignment of parties in the context of the potential coexistence of human-tiger conflicts in …


Biomedical Research And The “-Omics” Revolution, Andrew N. Rowan Jul 2025

Biomedical Research And The “-Omics” Revolution, Andrew N. Rowan

WellBeing News

An "-omics" revolution (genomics, proteomics, metabolomics) supported by AI is transforming biomedical research. Scientists are now proposing to add an "Exposomics" element to ensure that environmental exposures are adequately considered when advancing human health.


Oscillatory Flow Improves Hydrodynamic Ordering Of Soft Suspensions In Rectangular Channels, Paul C. Millett Jul 2025

Oscillatory Flow Improves Hydrodynamic Ordering Of Soft Suspensions In Rectangular Channels, Paul C. Millett

Mechanical Engineering Faculty Publications and Presentations

A computational study is presented that examines the hydrodynamic ordering of soft-particle suspensions within rectangular channels undergoing both steady and oscillatory flow. In these conditions, particles assemble into one-dimensional train-like configurations aligned in the flow direction. The results indicate that oscillatory flow facilitates a significant improvement in the ordering process, particularly for the assembly of multiple side-by-side trains within the channel. Several key parameters are systematically varied, including the Wolmersley number (Wo) representing the oscillatory frequency, the capillary number (Ca) representing the particle deformability, and the particle volume fraction (phi). It is found that optimal ordering occurs for a particular …


Integrase-Deficient Lentiviral Vector As A Platform For Efficient Crispr/Cas9-Mediated Gene Editing For Mucopolysaccharidosis Iva, Fnu Nidhi, Shunji Tomatsu Jul 2025

Integrase-Deficient Lentiviral Vector As A Platform For Efficient Crispr/Cas9-Mediated Gene Editing For Mucopolysaccharidosis Iva, Fnu Nidhi, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder causing systemic skeletal dysplasia due to a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS) enzyme activity, leading to the impaired degradation and accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate. While treatments such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available, they have significant limitations regarding efficacy in skeletal tissues and long-term safety, highlighting the need for more effective therapies. We evaluated a novel gene therapy approach using a dual Integrase-deficient lentiviral vector (IDLV) to deliver an expression cassette that includes human GALNS cDNA and Cas9 sgRNA, …


Ruptured Atlas: A Trauma-Informed Approach To Spatial Storytelling For Survivors Of Genocide (The Case For Yazidis In Iraq), Sana Murrani, Kimbal Bumstead, Zoe Paris, Ghazi Murad Ismael, Jameela Rasho, Omeed Khider Joqey Jul 2025

Ruptured Atlas: A Trauma-Informed Approach To Spatial Storytelling For Survivors Of Genocide (The Case For Yazidis In Iraq), Sana Murrani, Kimbal Bumstead, Zoe Paris, Ghazi Murad Ismael, Jameela Rasho, Omeed Khider Joqey

School of Art, Design and Architecture

The Ruptured Atlas project (December 2023 – December 2024) employs innovative, participatory mapping techniques to document the complex spatial and lived experiences of the Yazidi community in the aftermath of the genocide perpetrated by ISIS, which commenced in August 2014. This collaborative effort involves 15 Yazidi researchers and key partners, culminating in an online atlas and a trauma-informed policy toolkit. Designed to influence housing and migration policies in both Iraq and the UK, the project prioritises trauma-informed practices and community empowerment. The online atlas was not only a conceptual device, but a vital visual tool, enabling participants to represent trauma …


Bigapp: A User-Friendly Genomic Tool Kit Identified Quantitative Trait Loci For Creeping Rootedness In Alfalfa (Medicago Sativa L.), Alexander M. Sandercock, Michael D. Peel, Cristiane H. Taniguti, Josué Chinchilla-Vargas, Shufen Chen, Manoj Sapkota, Meng Lin, Dongyan Zhao, Arlyn J. Ackerman, Bhoja R. Basnet, Craig T. Beil, Moira J. Sheehan Jul 2025

Bigapp: A User-Friendly Genomic Tool Kit Identified Quantitative Trait Loci For Creeping Rootedness In Alfalfa (Medicago Sativa L.), Alexander M. Sandercock, Michael D. Peel, Cristiane H. Taniguti, Josué Chinchilla-Vargas, Shufen Chen, Manoj Sapkota, Meng Lin, Dongyan Zhao, Arlyn J. Ackerman, Bhoja R. Basnet, Craig T. Beil, Moira J. Sheehan

Plants, Soils and Climate Student Research

Alfalfa (Medicago sativa L.) is a globally vital forage crop valued for its perennial growth and multiple annual harvests. A breeding effort is underway to improve the crop for productivity and persistence against biotic and abiotic stresses using “creeping rootedness,” a trait where plants exhibit horizontal root growth, similar to rhizomes, with increased vegetative ground surface area. In this study, we genotyped a breeding population of 648 alfalfa lines segregating for creeping rootedness using the 3K DArTag marker panel to identify trait-associated genomic loci and evaluate the feasibility of genomic prediction to accelerate breeding cycles. Using genome-wide association studies …


Long-Read Sequencing Is Required For Precision Diagnosis Of Incontinentia Pigmenti., Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P G Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H R Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium, David T. Miller, Danny E. Miller Jul 2025

Long-Read Sequencing Is Required For Precision Diagnosis Of Incontinentia Pigmenti., Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P G Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H R Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium, David T. Miller, Danny E. Miller

Manuscripts, Articles, Book Chapters and Other Papers

Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identified causal variants, including one family with the common exon 4-10 deletion not identified by conventional clinical genetic testing. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X chromosome inactivation in an XXY individual.


Blunted Cd40-Responsive Enhancer Activation In Crebbp-Mutant Lymphomas Can Be Restored By Enforced Cd4 T-Cell Engagement, Haopeng Yang, Wenchao Zhang, Vida Ravanmehr, Guiling Cui, Kevin Bowman, Ruidong Chen, Jared M Henderson, Shyanne Lockman, Estela Rojas, Ashley Wilson, Sydney Parsons, Ariel Mechaly, Leslie Regad, Ahmed Haouz, Christopher R Flowers, Sattva Neelapu, Loretta Nastoupil, R Eric Davis, Qing Deng, Fernando Rodrigues-Lima, Michael R Green Jul 2025

Blunted Cd40-Responsive Enhancer Activation In Crebbp-Mutant Lymphomas Can Be Restored By Enforced Cd4 T-Cell Engagement, Haopeng Yang, Wenchao Zhang, Vida Ravanmehr, Guiling Cui, Kevin Bowman, Ruidong Chen, Jared M Henderson, Shyanne Lockman, Estela Rojas, Ashley Wilson, Sydney Parsons, Ariel Mechaly, Leslie Regad, Ahmed Haouz, Christopher R Flowers, Sattva Neelapu, Loretta Nastoupil, R Eric Davis, Qing Deng, Fernando Rodrigues-Lima, Michael R Green

Faculty, Staff and Student Publications

The CREBBP lysine acetyltransferase (KAT) is frequently mutated in follicular lymphoma and diffuse large B-cell lymphoma and has been studied using gene knockout in murine and human cells. However, most CREBBP mutations encode amino acid substitutions within the catalytic KAT domain (CREBBP KAT-PM) that retain an inactive protein and have not been extensively characterized. Using CRISPR gene editing and extensive epigenomic characterization of lymphoma cell lines, we found that CREBBP KAT-PM lead to unloading of CREBBP from chromatin, loss of enhancer acetylation, and prevention of EP300 compensation. These enhancers were enriched for those that are dynamically loaded by CREBBP in …


The Impact Of Genetic Ancestry On Survival Outcomes In Pediatric Rhabdomyosarcoma: A Report From The Children’S Oncology Group, Ekene A Onwuka, Christina L Magyar, Bailey A Martin-Giacalone, Michael E Scheurer, Deborah A Marquez-Do, Mark Zobeck, Elizabeth G Atkinson, Erin R Rudzinski, Michael A Arnold, Donald A Barkauskas, David Hall, Javed Khan, Jack F Shern, Paul Scheet, Brian Crompton, Corinne M Linardic, Douglas S Hawkins, Rajkumar Venkatramani, Lisa Mirabello, Chad D Huff, Melissa A Richard, Philip J Lupo Jul 2025

The Impact Of Genetic Ancestry On Survival Outcomes In Pediatric Rhabdomyosarcoma: A Report From The Children’S Oncology Group, Ekene A Onwuka, Christina L Magyar, Bailey A Martin-Giacalone, Michael E Scheurer, Deborah A Marquez-Do, Mark Zobeck, Elizabeth G Atkinson, Erin R Rudzinski, Michael A Arnold, Donald A Barkauskas, David Hall, Javed Khan, Jack F Shern, Paul Scheet, Brian Crompton, Corinne M Linardic, Douglas S Hawkins, Rajkumar Venkatramani, Lisa Mirabello, Chad D Huff, Melissa A Richard, Philip J Lupo

Faculty, Staff and Student Publications

Emerging evidence suggests genetic ancestry may influence childhood cancer outcomes, but its impact on pediatric rhabdomyosarcoma (RMS) is unknown. We explored genetic ancestry's impact on survival among children with RMS. This multi-center observational cohort study is a secondary analysis of previously collected biobanking, genomic, and clinical data. The study included 920 individuals with newly diagnosed RMS under 40 years of age enrolled from 2005 to 2017 under the COG soft tissue sarcoma biobanking protocol D9902. The primary endpoints were (1) event-free survival (EFS), defined as the time from study enrollment to tumor recurrence/progression, secondary malignancy, or death from any cause; …


Prognostic Value Of Lipoprotein(A) For Cardiovascular Events After Lower Limb Revascularization In Diabetic Patients With Chronic Limb-Threatening Ischemia, Federico Biscetti, Maria Margherita Rando, Maria Anna Nicolazzi, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J. Dimuzio, Dario Pitocco, Massimo Massetti, Antonio Gasbarrini, Andrea Flex Jul 2025

Prognostic Value Of Lipoprotein(A) For Cardiovascular Events After Lower Limb Revascularization In Diabetic Patients With Chronic Limb-Threatening Ischemia, Federico Biscetti, Maria Margherita Rando, Maria Anna Nicolazzi, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J. Dimuzio, Dario Pitocco, Massimo Massetti, Antonio Gasbarrini, Andrea Flex

Department of Surgery Faculty Papers

BACKGROUND: Chronic limb-threatening ischemia (CLTI) presents a major clinical challenge in patients with Type 2 Diabetes Mellitus (T2DM), requiring lower extremity revascularization (LER) to mitigate adverse cardiovascular and limb outcomes. Lipoprotein(a) (Lp(a)) has been implicated in cardiovascular risk, but its role in patients with T2DM and CLTI undergoing revascularization remains unclear. Thus, this study aimed to investigate the prognostic value of Lp(a) levels in diabetic CLTI patients for major adverse cardiovascular events (MACE), major adverse limb events (MALE), or both after LER.

METHODS: In this prospective cohort study of 158 individuals with T2DM and CLTI undergoing LER, baseline clinical data …


Networked Behaviors Associated With A Large-Scale Secure Messaging Network: Cross-Sectional Secondary Data Analysis, Laura Rosa Baratta, Linlin Xia, Daphne Lew, Elise Eiden, Y Jasmine Wu, Noshir Contractor, Bruce L Lambert, Sunny S Lou, Thomas Kannampallil Jul 2025

Networked Behaviors Associated With A Large-Scale Secure Messaging Network: Cross-Sectional Secondary Data Analysis, Laura Rosa Baratta, Linlin Xia, Daphne Lew, Elise Eiden, Y Jasmine Wu, Noshir Contractor, Bruce L Lambert, Sunny S Lou, Thomas Kannampallil

2020-Current year OA Pubs

BACKGROUND: Communication among health care professionals is essential for effective clinical care. Asynchronous text-based clinician communication-secure messaging-is rapidly becoming the preferred mode of communication. The use of secure messaging platforms across health care institutions creates large-scale communication networks that can be used to characterize how interaction structures affect the behaviors and outcomes of network members. However, the understanding of the structure and interactions within these networks is relatively limited.

OBJECTIVE: This study investigates the characteristics of a large-scale secure messaging network and its association with health care professional messaging behaviors.

METHODS: Data on electronic health record-integrated secure messaging use from …


Advanced Minimal Residual Disease Detection Using A Novel Circulating Tumor Dna Assay: A Report Of Two Cases, Georges Azzi, Thomas P Slavin, Jesus Izaguirre-Carbonell, Hillary S Sloane, Daniel L Edelstein, Cynthia X. Ma Jul 2025

Advanced Minimal Residual Disease Detection Using A Novel Circulating Tumor Dna Assay: A Report Of Two Cases, Georges Azzi, Thomas P Slavin, Jesus Izaguirre-Carbonell, Hillary S Sloane, Daniel L Edelstein, Cynthia X. Ma

2020-Current year OA Pubs

INTRODUCTION: Tumor-informed minimal residual disease (MRD) monitoring assays based on plasma circulating tumor DNA (ctDNA) are increasingly integrated into the clinical management of patients with cancer. In the post-surgical curative intent setting and as an adjunct to radiographic imaging for response assessment and surveillance, timely identification of MRD may better guide therapeutic decision-making. The increasing clinical adoption of MRD testing, supported by a growing body of evidence demonstrating its potential utility at critical decision points across diverse tumor histology, has brought attention to the variability in the analytical performance of available ctDNA assays. This variability is becoming increasingly appreciated as …


Predicting The Impact Of Climate Change On The Distribution Of Monodelphis Domestica (Wagner, 1842), Salise Sepulveda, Noé U. De La Sancha Jul 2025

Predicting The Impact Of Climate Change On The Distribution Of Monodelphis Domestica (Wagner, 1842), Salise Sepulveda, Noé U. De La Sancha

DePaul Discoveries

Understanding the impact of climate change on species distribution is necessary to properly develop plans that conserve or prepare for maintenance of crucial ecosystems. Monodelphis domestica is a small mammal species native to Argentia, Bolivia, Brazil, and Paraguay. This species is known for its high adaptability and preference for living in wet conditions. Using bioclimatic variables, generalized linear models (GLM), and Coupled Model Intercomparison Project Phase 6 (CMIP6) we predicted how this species distribution will change within the next 75 years under different climate and anthropogenic changes. The results have shown that the distribution of M. domestica will remain relatively …


Using Synchrotron Wide-Angle X-Ray Scattering To Study Collagen Degradation In Second Metacarpal Bones, Zeel Sheth, Misha Romanov, Ruby Schwieger Jul 2025

Using Synchrotron Wide-Angle X-Ray Scattering To Study Collagen Degradation In Second Metacarpal Bones, Zeel Sheth, Misha Romanov, Ruby Schwieger

DePaul Discoveries

The study examines female human second metacarpal (mc2) bones from early medieval cemetery at Greding, Germany, using high-energy Wide-Angle X-ray Scattering (WAXS) at beamline 1-ID of the Advanced Photon Source (APS) at Argonne National Laboratory. Rietveld refinement showed that carbonated apatite lattice parameters did not correlate with estimated age-at-death. For six of the mc2, widths of 00.2 and 00.4 diffraction peaks were substantially narrower than those of a modern (non-diagenetically altered) mc2 and of the other four ancient mc2. The peak width results are interpreted as indicating that four of the ten ancient mc2 retain substantial collagen and six of …


Race/Ethnicity, Living Arrangements, And Access To Healthcare Among Older Adults With Alzheimer’S Disease In The United States: Multiple Systematic Reviews In Relation To Health Outcomes, Chela Reiss, Grace Vethacke Jul 2025

Race/Ethnicity, Living Arrangements, And Access To Healthcare Among Older Adults With Alzheimer’S Disease In The United States: Multiple Systematic Reviews In Relation To Health Outcomes, Chela Reiss, Grace Vethacke

DePaul Discoveries

Alzheimer’s disease (AD) is a neurodegenerative condition primarily affecting older adults. It is a growing public health crisis that affects memory, thinking, and behavior. The number of adults aged 65 and older is projected to reach 98.2 million by 2060, leading to a continued rise in the prevalence of AD. Understanding the socioeconomic factors that influence health outcomes in patients with Alzheimer's Disease and Related Dementias (ADRD) is essential in addressing the disparities within patient care and quality of life. This systematic review examined three socioeconomic factors - race/ethnicity, living arrangements, and access to healthcare - and their related health …


Life Of Moo Deng, The Internet Sensation Pygmy Hippopotamus: An Overview Of The Biology And Conservation Breeding Program In Thailand, Ampika Thongphakdee, Atthapon Nundee, Umaporn Maikeaw, Narongwit Chodchoy, Chainarong Punkong, Kaywalee Chatdarong Jul 2025

Life Of Moo Deng, The Internet Sensation Pygmy Hippopotamus: An Overview Of The Biology And Conservation Breeding Program In Thailand, Ampika Thongphakdee, Atthapon Nundee, Umaporn Maikeaw, Narongwit Chodchoy, Chainarong Punkong, Kaywalee Chatdarong

The Thai Journal of Veterinary Medicine

The hippopotamus, commonly known as the hippo, is classified into two extant species: the common hippopotamus (Hippopotamus amphibius) and the pygmy hippopotamus (Choeropsis liberiensis). Pygmy hippos are fascinating creatures native to the forests and swamps of West Africa. Their survival is increasingly threatened by habitat loss resulting from agricultural expansion and urban development. As the population declines, zoological institutions play a crucial role in conservation by acting as genetic reservoirs and promoting public awareness of wildlife and environmental protection. “Moo Deng”, a pygmy hippo, whose name in Thai has gained international recognition, represents a notable success …