Digital Commons Network^™

Natural And Bioengineered Extracellular Vesicles In Diagnosis, Monitoring And Treatment Of Cancer, Xin Luo, Kathleen M Mcandrews, Raghu Kalluri

Faculty, Staff and Student Publications

Extracellular vesicles (EVs) are cell derived nanovesicles which are implicated in both physiological and pathological intercellular communication, including the initiation, progression, and metastasis of cancer. The exchange of biomolecules between stromal cells and cancer cells via EVs can provide a window to monitor cancer development in real time for better diagnostic and interventional strategies. In addition, the process of secretion and internalization of EVs by stromal and cancer cells in the tumor microenvironment (TME) can be exploited for delivering therapeutics. EVs have the potential to provide a targeted, biocompatible, and efficient delivery platform for the treatment of cancer and other …

Nanrilkefusp Alfa (Sot101), An Il-15 Receptor Βγ Superagonist, As A Single Agent Or With Anti-Pd-1 In Patients With Advanced Cancers, Stephane Champiat, Elena Garralda, Vladimir Galvao, Philippe A Cassier, Carlos Gomez-Roca, Iphigenie Korakis, Peter Grell, Aung Naing, Patricia Lorusso, Romana Mikyskova, Nada Podzimkova, Milan Reinis, Kaissa Ouali, Andreu Schoenenberger, Joachim Kiemle-Kallee, Sascha Tillmanns, Richard Sachse, Ulrich Moebius, Radek Spisek, David Bechard, Lenka Palova Jelinkova, Irena Adkins, Aurelien Marabelle

Faculty, Staff and Student Publications

Nanrilkefusp alfa (nanril; SOT101) is an interleukin (IL)-15 receptor βγ superagonist that stimulates natural killer (NK) and CD8

An Integrative Multiparametric Approach Stratifies Putative Distinct Phenotypes Of Blast Phase Chronic Myelomonocytic Leukemia, Kristian Gurashi, Yu-Hung Wang, Fabio M R Amaral, Katherine Spence, Rachel Cant, Chi-Yuan Yao, Chien-Chin Lin, Christopher Wirth, David C Wedge, Guillermo Montalban-Bravo, Simona Colla, Hwei-Fang Tien, Tim C P Somervaille, Kiran Batta, Daniel H Wiseman

Faculty, Staff and Student Publications

Approximately 30% of patients with chronic myelomonocytic leukemia (CMML) undergo transformation to a chemo-refractory blastic phase (BP-CMML). Seeking novel therapeutic approaches, we profiled blast transcriptomes from 42 BP-CMMLs, observing extensive transcriptional heterogeneity and poor alignment to current acute myeloid leukemia (AML) classifications. BP-CMMLs display distinctive transcriptomic profiles, including enrichment for quiescence and variability in drug response signatures. Integrating clinical, immunophenotype, and transcriptome parameters, Random Forest unsupervised clustering distinguishes immature and mature subtypes characterized by differential expression of transcriptional modules, oncogenes, apoptotic regulators, and patterns of surface marker expression. Subtypes differ in predicted response to AML drugs, validated ex vivo in …

Scorpions Of The Horn Of Africa (Arachnida: Scorpiones). Part Xxxv. Parabuthus Starhai Sp. N. From Somalia (Puntland) (Buthidae), František Kovařík

Euscorpius

A new species Parabuthus starhai sp. n. from Somalia (Puntland) is described. Combination of two characters, pectine teeth number 56–59 in both sexes and pedipalp chela length/ width ratio 3.65 in male and 5.47 in female differ P. starhai sp. n. from all other species in the region. Included is also a map of distribution of Parabuthus species in the Horn of Africa.

Change Detection Analysis Using Remote Sensing And Gis Approaches For Lake Manzala, Egypt, Mohamed Eraki, Rasha Abd El Ghany, Sameh El Kafrawy, Mostafa Rabah

Mansoura Engineering Journal

Manzala Lake, the largest natural freshwater body in Egypt, is situated in the northeastern part of the Nile Delta. It faces major environmental challenges, largely due to pollution from untreated industrial effluents, sewage, and agricultural runoff. As part of Egypt's national initiative to rehabilitate its lakes, a development project was launched in 2017 and concluded in June 2022. The project aimed to purify the lake by eliminating contaminants, clearing invasive vegetation, deepening the canals, the study focuses on assessing land cover changes using remote sensing and GIS, and offers some recommendations for sustainable lake use following the development efforts. The …

Mitochondrial Dysfunction Is A Hallmark Of Woody Breast Myopathy In Broiler Chickens, Elizabeth S. Greene, Paula R. Chen, Carrie Walk, Mike Bedford, Sami Dridi

Poultry Science Faculty Publications and Presentations

The woody breast (WB) myopathy poses significant economic and welfare concerns to the poultry industry, however, there is no effective strategy to mitigate this pathology due to its unknown etiology. After showing previously that hypoxia is a key factor in WB progression, we used here various techniques demonstrating dysregulated mitochondria (morphology, biogenesis, tethering, function, and bioenergetics) in WB-affected muscles and in hypoxic myoblasts compared to healthy tissues and normoxic cells, respectively. The increased levels of calcium (Ca2+) in both WB-affected tissues and hypoxic myoblasts suggested that mitochondrial Ca2+ overload is likely a leading cause for mitochondrial dysfunction that merits further …

Next-Generation Sequencing-Based Msi Scoring Predicts Benefit In Mismatch Repair-Deficient Tumors Treated With Nivolumab: Follow-Up On Nci-Match Arm Z1d, Jonathan D Schoenfeld, Nilofer S Azad, Jacob Gross, Li Chen, Michael J Overman, Katrina Kao, Latifa Jackson, Donna Brunnquell, Xiangning Bu, Christina Coppola, Ping Guan, Jennifer Lee, David Sims, Rebecca Fuchs, Jason L Weirather, Kathleen L Pfaff, Lauren Gunasti, Srin Ranasinghe, Stanley R Hamilton, Victoria Wang, Peter J O'Dwyer, Catherine J Wu, Scott J Rodig, David R Patton, Lyndsay Harris

Faculty, Staff and Student Publications

Purpose: Mismatch repair-deficient (dMMR) tumors have demonstrated favorable responses to immune checkpoint inhibition targeting PD-1. However, more in-depth identification of predictors of response could further refine patient selection for immunotherapy treatment.

Patients and methods: We undertook integrated evaluation performed on samples collected from 28 of 42 patients enrolled on the NCI-Molecular Analysis for Therapy Choice arm Z1D trial that evaluated PD-1 inhibition treatment with nivolumab in patients with noncolorectal dMMR tumors. Genomic analyses were performed using next-generation sequencing (NGS), whole-exome sequencing, and RNA sequencing and supplemented by multiplex immunofluorescence performed on tissue samples.

Results: In this dMMR population, more extensive …

Unraveling The Influence Of Structural Complexity,Environmental, And Geographic Factors On Multi-Trophicbiodiversity In Forested Landscapes, Ayanna St Rose, Kusum Naithani

Biological Sciences Faculty Publications and Presentations

Multi-trophic diversity is often overlooked in land management decisions due to the absence of cost- and time-effective assessment methods. Here, we introduce a new method to calculate a combined terrain and canopy structural complexity metric using LiDAR data, enabling the prediction of multi-trophic diversity-a combined diversity metric that integrates diversity across trophic levels. We selected 34 forested sites of the National Ecological Observatory Network to test the model by using observed data on plant presence, beetle pitfall trap, and bird count to calculate multi-trophic diversity. Our results show that multi-trophic diversity increases with increasing structural complexity, but this relationship differs …

Freshwater Mussels Of Kansas: Register Of Taxa, Synonyms, And Assumed Misidentifications, Mark E. Eberle

Biological Sciences Faculty Publications

The literature on freshwater mussels (Mollusca: Margaritiferidae and Unionidae) of Kansas includes a collection of names of species and subspecies that makes it difficult for even experienced malacologists to decipher which taxa actually were collected. Compounding this problem is the absence of voucher specimens for some of the studies conducted in the state. This list was compiled to aid those who are conducting research and want to assess their results with reference to the earlier accounts. The alphabetical list of valid taxa, synonyms, and assumed misidentifications of freshwater mussels of Kansas is drawn from the literature and not an examination …

My Art Is Garbage, Beth Shepherd

The Goose

In “My Art is Garbage,” I describe three recent art projects where garbage is both a theme and an artistic medium used to critique the overuse of and inability to reuse or safely dispose of plastics we use every day. The first work, Untitled (Plastic Film Balls), uses non-recyclable single-use household plastic made to form an installation of shimmering balls and alludes to the environmental footprint of the artworld. Plastic Shores, a series of monotype prints, reminds us that plastics in the environment are deleterious to species that we see every day. Finally Plastic Pests, a series …

Single-Cell Rna Sequencing Identifies Molecular Biomarkers Predicting Late Progression To Cdk4/6 Inhibition In Patients With Hr+/Her2- Metastatic Breast Cancer, Linjie Luo, Peng Yang, Sofia Mastoraki, Xiayu Rao, Yan Wang, Nicole M Kettner, Akshara Singareeka Raghavendra, Debasish Tripathy, Senthil Damodaran, Kelly K Hunt, Jing Wang, Ziyi Li, Khandan Keyomarsi

Faculty, Staff and Student Publications

Background: Cyclin-dependent kinase 4/6 inhibitors (CDK4/6is) in combination with endocrine therapy are the standard treatment for patients with hormone receptor-positive, HER2-negative metastatic breast cancer (mBC). Despite the efficacy of CDK4/6is, intrinsic resistance occurs in approximately one-third of patients, highlighting the need for reliable predictive biomarkers.

Methods: Single-cell RNA sequencing analyzed metastatic tumors from HR+/HER2- mBC patients pre-CDK4/6i treatment at baseline (BL) and/or at disease progression. BL samples were from CDK4/6i responders (median progression-free survival [mPFS] = 25.5 months), while progressors were categorized as early-progressors (EP, mPFS = 3 months) and late-progressors (LP, mPFS = 11 months). Metastatic sites included liver, …

Offal Wildlife Watching: Connecting Hunters, Wildlife Researchers, And The Public Through Participatory Science, Ellen M. Candler, Grace Milanowski, Amy Rager, Joseph K. Bump

Journal of Extension

Offal Wildlife Watching is a participatory science project that engages deer hunters in wildlife research. The goal of the project is to better understand the ecology of scavenger species that visit deer gut piles across Minnesota. We asked hunters to deploy remote cameras at white-tailed deer gut piles that resulted from their freshly killed deer. Thus far 117 hunters have contributed images and recorded at least 49 different scavenger species. This project is a natural fit in Extension programs and can easily be adapted to other hunted species, biomes, and locations.

Workshop Wine Wednesdays: Change In Behavior Around Local Wines, Aude Watrelot, Sarah Francis, Sarah Al-Mazroa Smith

Journal of Extension

Wine workshops hosted at local wineries positively impacted the behavior of Iowa wine consumers. Many participants (75%) reported visiting an Iowa winery following the workshop. The percentage of participants consuming Iowa wines increased by 20.6% (p

Tailor-Designed Oxalic Acid-Crosslinked Poly(Vinyl Alcohol)/Chitosan Biodegradable Films For Active Food Packaging Applications, Reem Hazem Fathy Anwar Elaasar

Theses and Dissertations

Food packaging plastic waste is posing great threats to ecosystems, human health, and the planet's overall sustainability; therefore, research has been directed towards the fabrication of biodegradable food packaging materials. In this study, active and biodegradable oxalic acid (OA) crosslinked poly(vinyl alcohol) (PVA)/chitosan (CS) composite films of different weight ratios were synthesized via the solvent casting technique and their food packaging properties were investigated. Owing to its water resistance and antibacterial superiority, the composite film with the ratio of OA chemically crosslinked PVA/CS 80:20 was elected to be coated with green tea extract (GTE) to ameliorate its antibacterial and antioxidant …

Promoting Equity: Embracing Food Justice In The Transformation Of The Food Systems For Bipoc Communities, Frank Yeboah Adusei

Journal of Extension

The food justice movement addresses systemic food inequities impacting BIPOC communities, rooted in civil rights and environmental justice movements. It advocates for fair access to culturally relevant food, combating food deserts, and promoting food sovereignty. Recognizing intersectionality, it emphasizes collaboration to dismantle systemic barriers. This study aims to understand BIPOC communities' challenges and effective strategies, stressing the importance of collaborative efforts for lasting systemic change. Extension professionals face challenges but can contribute through equity-focused strategies, community engagement, and partnerships, advancing food justice and fostering inclusive food systems.

Beer And Biology, A Perfect Pairing: Using Beer To Spread Awareness About Invasive Species, Samuel Nutile, Adam Simpson, Sara Stahlman, Lynne E. Beaty

Journal of Extension

Managing the spread of introduced invasive species relies on educating recreationists that currently or potentially harbor such species. By partnering with a local brewery, we developed the Lagers for Lakes Draft Series to facilitate outreach about aquatic invasive species in Erie, Pennsylvania. To date, Lagers for Lakes drafts and associated launch events have reached over 230 individuals and increased awareness of invasive species by 86%. With the materials provided here and the lessons learned from these events, we hope similar outreach efforts can be developed elsewhere to educate and minimize the spread of invasive species.

Field Observations Of Gopher Tortoise (Gopherus Polyphemus) Activity At A Rare Double-Burrow, James Carroll, Rachel Carroll

Georgia Journal of Science

After a review of the journal, it does not appear that abstracts are included with Research Notes. Therefore, no abstract is provided. However, we certainly defer to the Editors on this requirement and will happily provide an abstract if needed.

Pharmacokinetics Of Liposomal Levamisole After Oral, Intramuscular, And Subcutaneousadministration In Sheep, Hasan Susar, İzzet Karahan

Turkish Journal of Veterinary & Animal Sciences

This study aimed to determine the pharmacokinetics of free and liposomal levamisole in sheep following single oral (O),intramuscular (IM), and subcutaneous (SC) administrations at a dose of 7.5 mg/kg. The study developed a levamisole liposome andinvestigated relevant parameters: particle size, zeta potential, polydispersity index, encapsulation efficiency, pH, and morphology. TheBangham method, a thin-film hydration technique, was employed to prepare the liposomal levamisole. Blood samples were collectedby jugular venipuncture in heparinized tubes immediately before each free and liposomal levamisole treatment and at 2.5, 5, 10, 15,30, 60, 90, 120, 240, 360, and 480 min and 12, 16, and 24 h after …

Nutrient Limitation And Seasonality Associated With Phytoplankton Communities And Cyanotoxin Production In A Large, Hypereutrophic Lake, Gabriella M. Lawson, Jakob L. Young, Zachary T. Aanderud, Erin F. Jones, Samuel Bratsman, Jonathan Daniels, Madeleine P. Malmfeldt, Michelle A. Baker, Benjamin W. Abbott, Scott Daly, Hans W. Paerl, Greg Carling, Brian Brown, Raymond Lee, Rachel L. Wood

Biology Faculty Publications

Though freshwater harmful algal blooms have been described and studied for decades, several important dynamics remain uncertain, including the relationships among nutrient concentrations, phytoplankton growth, and cyanotoxin production. To identify when and where nutrients limit phytoplankton, cyanobacteria, and cyanotoxins, we conducted in situ bioassay studies. We added nitrogen (N), phosphorus (P), or N + P across various seasons in water collected from three locations across Utah Lake, one of the largest freshwater lakes in the western U.S. This shallow, hypereutrophic lake provides a powerful testbed for quantifying nutrient-growthtoxin interactions. We assessed a range of parameters over time, including photopigment concentrations, …

Thermophilic Microbiota Of Fifth Water Hot Springs: A Genomic Perspective, Ethan Powers, Zack Galbraith, Trever Thurgood

Annual Research Symposium

Geothermal hot springs provide unique microbial habitats characterized by extreme temperatures, variable pH, and diverse geochemical conditions. This study investigates the microbial diversity of three hot spring locations in Diamond Fork Canyon, Utah—Diamond Fork Warm Springs, Fifth Water Hot Springs, and Monk’s Hollow Trailhead—using Oxford Nanopore MinION sequencing of the 16S rRNA gene. Samples were collected in triplicate and analyzed to identify the bacterial composition, with a focus on potential opportunistic pathogens. Our results revealed a diverse microbial community, including members of Pseudomonas, Comamonas, Helicobacter, and Flavobacterium, some of which are known for biofilm formation, antibiotic …

The Impact Of Electronic Cigarette Vapor And Cigarette Smoke On Oral Squamous Cell Carcinoma Invasion And Inflammation, Neha Patel

Annual Research Symposium

No abstract provided.

Evaluating The New Nd: Yag Laser Method In Phytosynthesizing Silver Nanoparticles And Assessing Their Medical Applications., Arshad Mahdi Hamad, Qanat Mahmood Atiya

Karbala International Journal of Modern Science

Silver nanoparticles (AgNPs) were synthesized via an innovative green synthesis method using amygdalin (Am) as a reducing agent and the Nd: YAG laser as a catalyst. We studied the properties of the nanoparticles using X-ray diffraction (XRD), field emission scanning electron microscopy (FESEM), energy dispersive X-ray spectroscopy (EDX), atomic force microscopy (AFM), ultraviolet-visible spectroscopy (UV), and Fourier transform infrared spectroscopy (FTIR) techniques. All the results of the examination demonstrate excellent structural and optical properties. In addition, the molecular docking of the complex composed of amygdalin and AgNPs was tested on three proteins concerned with the virulence of Pseudomonas aeruginosa and …

How Hormonal Changes And The Oral Microbiome Interact With Periodontal And Alzheimer’S Disease To Influence Chronic Inflammation And Cognitive Decline?, Vanessa Chavez-Sinks, Kamran H. Awan

Annual Research Symposium

This review aims to investigate the potential of the bidirectional relationship between Alzheimer’s disease and periodontal disease. The Key players of hormonal fluctuations and microbiome dysbiosis emphasize the shared mechanisms that interplay among both conditions to identify the potential therapeutic opportunities.

Drought Resilience And Legacy Effects In Two Forest Tree Species On Loess Plateau Of China: Growth And Water-Use Efficiency Under Different Drought Conditions, Lu Han, J. Julio Camarero, Guodong Jia, Zhiqiang Zhang, Lixin Chen

Aspen Bibliography

As droughts become more frequent and severer, understanding tree resilience and its role in mediating drought legacy effects (LEs) is critical for predicting forest ecosystem responses to future droughts and informing forest management. Both Pinus tabuliformis and Populus davidiana are widely distributed in the Loess Plateau region of western China and play important roles in provision of ecosystem services. In this study we quantified the LEs and resilience, including resistance (Rt) and recovery (Rc), of radial growth (BAI, basal area increment) and intrinsic water use efficiency (iWUE) of the two species, determined the external and internal factors influencing Rt and …

Replacement Of Monensin With A Proprietary Tannin-Blend Additive In Calf-Fed Holstein Steer Diets, Sydney M. Bowman-Schnug, Luke K. Fuerniss, Joe D. Cameron, Jonathon L. Beckett, Muhammad Ahsin, Stephan Van Vliet, Guy D. Hufstedler, Bradley J. Johnson

Nutrition, Dietetics, and Food Sciences Faculty Publications

A proprietary tannin blend was evaluated as a potential ionophore replacement considering traits of feedlot cattle growth performance, carcass traits, and health. Holstein steers (n = 1450; initial shrunk body weight (SBW) = 141.6 ± 34.2 kg.) were blocked by origin and randomly assigned to receive a finishing diet containing one of two treatments: 1) 14,500 mg per head daily of Silvafeed ByProX (SBPX; ByPro/BX blend, Silvateam S.p.A, San Michele Mondovì, Italy) or 2) 180 mg per head daily of monensin (MON; Rumensin™ 90, Elanco, Greenfield, IN). Steers were on trial for 341 ± 11 days. Pen was the …

Inhibition Of Histone Methyltransferase Ezh2 For Immune Interception Of Colorectal Cancer In Lynch Syndrome, Charles M Bowen, Fahriye Duzagac, Abel Martel-Martel, Laura Reyes-Uribe, Mahira Zaheer, Jacklyn Thompson, Nan Deng, Ria Sinha, Soham Mazumdar, Melissa W Taggart, Abhinav K Jain, Elena Tosti, Winfried Edelmann, Krishna M Sinha, Eduardo Vilar

Faculty, Staff and Student Publications

Colorectal precancers in Lynch syndrome (LS) exhibit a distinct immune profile, presenting unique opportunities for developing immune-interception strategies to prevent carcinogenesis. Epigenetic modulation by EZH2 of immune-related genes is implicated in the carcinogenesis of different cancer types, including colorectal cancer. This study utilizes a mouse model of LS and ex vivo colonic organoids to assess the effects of the EZH2 inhibitor GSK503 on immune regulatory pathways, tumorigenesis, and epigenetic reprogramming. Our findings revealed that GSK503 significantly increased CD4+ and CD8+ T cells in both splenocytes and colonic mucosa of treated mice compared with controls. Additionally, a preventive dose of GSK503 …

Pharmacogenomics Implications Of Tamoxifen In Breast Cancer Treatment: Clinical Relevance And Future Directions, Khalda E. M. Elhaj, Mahmoud M. E. Mudawi, Hamad A. Albagir A. Ali, Kamal A.A. Mohammed

Saudi Toxicology Journal

Tamoxifen is a cornerstone therapy for estrogen receptor-positive (ER+) breast cancer, improving survival and reducing recurrence. Its efficacy and toxicity, however, vary due to genetic polymorphisms influencing metabolism and transport. Key genes, such as CYP2D6, CYP3A4, and ATP-binding cassette transporters (ABCB1, ABCC2), are crucial in forming and distributing active metabolites like endoxifen. This review explores tamoxifen pharmacogenetics through an analysis of literature from PubMed, Scopus, Google Scholar, and PharmaGKB. Genetic variations like CYP2D6*10 in Asians and CYP2D6*17/29 in Africans impact therapeutic outcomes. Barriers to personalized tamoxifen therapy include inconsistent guidelines, limited access to genetic testing, and underrepresentation of ethnic groups …

Structure-Activity Relationship Studies Of Dna Methyltransferase 1 Monovalent Degraders, Chao Qian, Youngeun Lee, Yulin Han, Yue Zhong, Jujun Zhou, Joel Hrit, Ling Xie, Qin Chen, H Ümit Kaniskan, Xian Chen, Scott Rothbart, Xiaodong Cheng, Yan Xiong, Jian Jin

Faculty, Staff and Student Publications

DNA methyltransferase 1 (DNMT1), which catalyzes maintenance methylation of hemimethylated DNA during DNA replication, is overexpressed in cancer. Recently, the first-in-class DNMT1-selective noncovalent small-molecule inhibitors, GSK3484862 and GSK3685032, were discovered. These inhibitors were also reported to degrade DNMT1. However, structure–activity relationship (SAR) studies of these monovalent DNMT1 degraders are lacking. Here, we report our SAR studies of this scaffold on degrading DNMT1, which led to the discovery of multiple lead degraders, including compound 4 (MS9024). Compound 4 potently and selectively degraded DNMT1 in multiple cancer cell lines in a concentration-, time-, and proteasome-dependent manner without altering DNMT1 transcription. Further mechanism-of-action …

Efficacy And Safety Of Nivolumab Plus Ipilimumab In Patients With Metastatic Variant Histology (Non-Clear Cell) Renal Cell Carcinoma, Mohammad Jad Moussa, Jaanki Khandelwal, Nathaniel R Wilson, Kiran L Malikayil, Devaki Shilpa Surasi, Tharakeswara K Bathala, Yiyun Lin, Priya Rao, Pheroze Tamboli, Kanishka Sircar, Helen Ajufo, Khaled M Elsayes, Amishi Shah, Andrew C Johns, Sangeeta Goswami, Elshad Hasanov, Eric Jonasch, Pavlos Msaouel, Matthew T Campbell, Omar Alhalabi, Nizar M Tannir

Faculty, Staff and Student Publications

Background: Nivolumab plus ipilimumab (nivo/ipi) is a standard of care first-line (1 L) therapy for patients with metastatic clear-cell renal cell carcinoma (ccRCC), but its role in patients with metastatic, non-ccRCC has not been fully defined. We report a single-institution experience with nivo/ipi in non-ccRCC.

Methods: Between November 2017 and February 2024, 55 patients with metastatic non-ccRCC received nivo/ipi at MD Anderson Cancer Center. The tumor response was assessed by blinded radiologists using RECIST v1.1. The overall response rate (ORR), progression-free survival (PFS), PFS milestone, duration of response (DoR), and overall survival (OS) were determined. Next-generation sequencing (NGS) was performed …

Contribution Of Rare Chromosome 22q112 Copy Number Variants To Non-Syndromic Bicuspid Aortic Valve, Helene Digregorio, Sara Mansoorshahi, Steven G Carlisle, Catherina Tovar Pensa, Abi Watts, Courtney Mcneely, Anna Sabate-Rotes, Anji Yetman, Hector I Michelena, Julie F A De Backer, Laura Muiño Mosquera, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L Mcbride, Simon C Body, Dianna M Milewicz, Siddharth K Prakash, Ebav Investigators

Faculty, Staff and Student Publications

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is less clear. This study is aimed to assess the role of rare 22q11.2 CNVs in patients with early-onset BAV (EBAV) and to determine whether these variants are linked to an increased risk of complications.

Methods: Whole genome microarray genotyping was conducted on 272 patients with BAV with early onset …