Medicine and Health Sciences Commons^™

Nerve-To-Cancer Transfer Of Mitochondria During Cancer Metastasis, Gregory Hoover, Shila Gilbert, Olivia Curley, Clémence Obellianne, Mike T Lin, William Hixson, Terry W Pierce, Joel F Andrews, Mikhail F Alexeyev, Yi Ding, Ping Bu, Fariba Behbod, Daniel Medina, Jeffrey T Chang, Gustavo Ayala, Simon Grelet

Faculty, Staff and Students Publications

The nervous system has a pivotal role in cancer biology, and pathological investigations have linked intratumoural nerve density to metastasis1. However, the precise impact of cancer-associated neurons and the communication channels at the nerve–cancer interface remain poorly understood. Previous cancer denervation models in rodents and humans have highlighted robust cancer dependency on nerves, but the underlying mechanisms that drive nerve-mediated cancer aggressivity remain unknown2,3. Here we show that cancer-associated neurons enhance cancer metabolic plasticity by transferring mitochondria to cancer cells. Breast cancer denervation and nerve–cancer coculture models confirmed that neurons significantly improve tumour energetics. …

First Assembly Of A Draft Genome Of The Critically Endangered Northern Muriqui ( Brachyteles Hypoxanthus , Primates, Atelidae) Including Non‐Invasive Genotyping Strategies For The Species, Amanda Alves De Melo-Ximenes, Romina Batista, Leonardo Carlos Jeronimo Corvalán, Tomas Marques-Bonet, Lukas Kuderna, Kyle Farh, Jeffrey Rogers, Mariane Da Cruz Kaizer, Jean Philippe Boubli, Fabiano Rodrigues De Melo, Rhewter Nunes, Mariana Pires De Campos Telles

Faculty, Staff and Students Publications

Genomic resources, such as draft genomes, are vital for biodiversity monitoring and conservation. For endangered species, they enable the development of tools like organellar genomes and molecular markers, which are crucial for population genetics. Advances in sequencing technologies now allow high‐throughput genotyping with detailed amplicon sequences, enhancing genetic variation studies. The northern muriqui ( Brachyteles hypoxanthus ), a critically endangered primate endemic to Brazil's Atlantic Forest, currently lacks both nuclear and mitochondrial genome data and species‐specific microsatellite markers for population genetic studies. We assembled a 2.52 Gb draft genome for B. hypoxanthus with 202,243 contigs (N50 = 29,134 bp), and …

Changes In Post-Transplant Serum Testosterone Levels In Men Undergoing Lung Transplantation: A Pilot Study Using The Trinetx Research Network, Austin Thompson, Danly Omil-Lima, Jaime Abraham Perez, Erin Jesse, Mohit Khera, Kenneth Chavin, Nannan Thirumavalavan

Faculty, Staff and Students Publications

Hypogonadism is understudied in men requiring solid organ transplants, particularly among lung transplant recipients. Improvement in serum testosterone levels has been reported in kidney and liver transplantation. Using the TriNetX Research Network, we performed a retrospective cohort study to evaluate the incidence of peri-transplant hypogonadism and the natural course of serum testosterone following successful lung transplantation. Men aged ≥ 18 with a lung transplant and total testosterone drawn within one year pre- and post-transplant were included. Men with receipt of testosterone therapy were excluded. A low testosterone (< 300 ng/dL) and normal testosterone (≥300 ng/dL) cohort was created before employing descriptive and analytic statistics to investigate the incidence of peri-transplant hypogonadism and the change in serum testosterone levels following lung transplantation. In our entire cohort, lung transplantation was not associated with a significant increase in post-transplant serum testosterone (329.86 ± 162.56 ng/dL pre-transplant and 355.13 ± 216.11 ng/dL post-transplant, p = 0.483). The number of men with low testosterone decreased by 9.8% following lung transplantation but was not significant, p = 0.404. In this pilot study, no significant change in the number of hypogonadal men nor serum testosterone levels was observed among men undergoing lung transplantation.

Cervical Cancer Outcomes In Women With Hiv In The Age Of Antiretroviral Therapy, Alison K Yoder, Rehema J Thomas, Austin Huang, Anushka Mandalapu, Dana M Roque, Kristina Bowles, Kevin Albuquerque, Christina Son, Michelle S Ludwig, Kimberly Levinson, Anna E Coghill, Elizabeth Yu Chiao, Lilie L Lin

Faculty, Staff and Students Publications

This cross-sectional study investigates the outcomes for women living with HIV and cervical cancer in the US after the emergence of antiretroviral therapy.

Nephrostomy (Pcn) Versus Nephroureteral Stent (Double Jj); An Ongoing Battle, Mohammad Ghasemi-Rad, Kelly Trinh, David Wynne, Mohadese Ahmadzade, Muhammad Hamza Shamim, Omar Guerrero, Ashley Bancroft, Shreya Ranganath, David Leon

Faculty, Staff and Students Publications

In the realm of medical procedures for urinary obstructions, a distinct division of roles is evident: the vast majority of percutaneous nephrostomies (PCNs) are the domain of Interventional Radiology (IR), while the placement of double J stents (JJ stents) falls squarely under Urology. This division, however, is not without its complexities. When confronted with a patient suffering from a urinary obstruction, the decision-making process can become intricate. The underlying cause often fuels the debate: should IR intervene with a PCN, or should Urology place a JJ stent? Such decisions have profound implications for the individual patient.In this comprehensive review, we …

Mechanisms Underlying Atrial Fibrillation In Chronic Kidney Disease, Jose Alberto Navarro-Garcia, Joshua A Keefe, Jia Song, Na Li, Xander H T Wehrens

Faculty, Staff and Students Publications

Chronic kidney disease (CKD) is a serious and progressive worldwide health problem affecting 15 % of the global population. CKD is associated with higher mortality rates due to secondary complications such as cardiovascular disease. Common cardiovascular complications found in CKD patients include left ventricular hypertrophy, heart failure, and cardiac arrhythmias. The most common type of cardiac arrhythmia in CKD patients is atrial fibrillation (AF). Proper management of AF is important due to its high risk of cardiovascular complications and stroke. The incidence of AF remains higher in CKD patients than in the healthy population, highlighting the need to improve our …

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

Faculty, Staff and Students Publications

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

Glycerol Kinase Gene Variant As A Cause Of Pseudohypertriglyceridemia And Apparent Poor Response To Plozasiran, Miriam Larouche, Christie Ballantyne, Josiane Dufour, Diane Brisson, Bruce Given, Daniel Gaudet

Faculty, Staff and Students Publications

Severe hypertriglyceridemia (HTG) is characterized by plasma triglyceride (TG) levels >500 mg/dL (SI: 5.7 mmol/L) (reference range, < 150 mg/dL [SI: < 1.7 mmol/L]) and is linked to cardiovascular disease and pancreatitis risk. Treatment typically involves dietary restrictions and lipid-lowering medications. Glycerol kinase deficiency (GKD) is a rare genetic disorder that causes pseudo-HTG.

In SHASTA-2, a study of patients with severe HTG, most subjects (>90%) treated with plozasiran, an apolipoprotein C-III (APOC3) small interfering RNA (siRNA), achieved TG levels < 500 mg/dL (SI: 5.7 mmol/L), below the risk threshold for acute pancreatitis. We report herein a case study of a 65-year-old male apparently not responding to plozasiran. The patient was shown to carry a loss-of-function variant in the GK gene resulting in GKD, with high free glycerol (40.24 mg/dL or 4.37 mmol/L) (reference range, 0.03-0.13 mmol/L) that contributed to an overestimation of TG concentration. After correcting for free glycerol, the patient was noted to have had mild HTG, with plozasiran treatment decreasing real TG values by up to 71%.

This case report suggests that …

Hospital Experiences And Medical Traumatic Stress In Adults With Spina Bifida, Ellen Fremion, Nora Deibler, Juliana Abel, Monique Ridosh

Faculty, Staff and Students Publications

Purpose

This study examined hospital and emergency department (ED) experiences of adults with spina bifida (SB), medical traumatic stress (MTS) and participant characteristics including anxiety, depression, post-traumatic stress disorder (PTSD) symptoms, and resiliency scores.

Methods

Adults with SB who had a hospital or ED encounter within the last five years were recruited from a medical home clinic and completed a structured interview and validated questionnaires. Narrative inquiry was used and descriptive analyses were conducted. MTS scores were reported per participant characteristics and emotional health questionnaire score counts and percentages.

Results

Twenty-five adults with SB representing 37% of eligible patients were …

The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium

Faculty, Staff and Students Publications

The Psychiatric Genomics Consortium (PGC) has fueled discoveries of common and rare genetic variation contributing to liability to many psychiatric and neurodevelopmental conditions. This narrative review reflects on major findings from the past half decade of research by this international group of investigators in five priority areas: discovery of common variants using GWAS; rare variation and its interplay with polygenic risk; leveraging genetics to go beyond diagnostic boundaries; ascribing functional attributes to genomic discoveries; and developing and implementing processes for data sharing, outreach to various communities, and training. The insights gained in these domains frame the agenda for the next …

Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage

Faculty, Staff and Students Publications

Background: Various forms of liver disease have been increasingly reported in individuals with urea cycle disorders (UCDs). In this study, we performed the first systematic and standardized histopathological assessment of the prevalence of fibrosis and steatosis in a large sample of hepatic explants and biopsies from individuals with UCDs at two liver transplantation centers.

Methods: Sixty-seven hepatic tissue samples from 66 individuals with UCDs were staged by two pathologists for hepatic fibrosis and steatosis using standard scoring systems at two large liver transplantation centers in the United States. Histopathological findings were correlated with clinical parameters, including UCD type, laboratory parameters, …

Community-Engaged Medical Student Elective To Improve Knowledge And Attitudes Toward Individuals With Intellectual And Developmental Disabilities, Kathryn J Kemere, Nital Appelbaum, Priya Chandan, Elisha Acosta

Faculty, Staff and Students Publications

Individuals with intellectual and developmental disabilities (IDD) face multiple barriers to inclusion throughout life. One barrier is the medical knowledge and biases of adult healthcare providers with diagnoses traditionally associated with childhood. Medical school curricula have limited content related to IDD, and students have limited opportunities to engage with community organizations during their clinical years. Methods: We created a one-month clinical elective to address medical students' attitudes and knowledge regarding individuals with IDD using experiential learning. Students saw adult patients in our primary care clinic with a variety of IDD diagnoses and spent 30% of their time at community sites …

Potential Intermediate-Term Survival Differences Among Heart Transplant Recipients From Circulatory Death Vs Brain Death Donors, Anh Nguyen, Abbas Rana, Alexis Shafii, Gabriel Loor, Andrew Civitello, Jose Euberto Mendez Reyes, O Howard Frazier, Todd Rosengart, Kenneth Liao

Faculty, Staff and Students Publications

Background: This study builds upon previous analyses by examining heart transplant survival from donation after circulatory death (DCD) vs donation after brain death (DBD) using the United Network for Organ Sharing (UNOS) database, with follow-up extended to 3 years post-transplant.

Methods: We conducted a retrospective cohort study of 1,453 DCD and 16,561 DBD adult heart transplants from January 2019 to June 2024 using the UNOS database. Propensity scores were generated based on clinically relevant covariates, and 1-to-1 propensity-score matching was performed. Survival analysis was conducted using Cox proportional hazards regression and Kaplan-Meier curves, with the log-rank test comparing overall survival …

Bridging Psychiatry And Rare Genetic Diseases: A Scoping Review Of Therapeutic Strategies And Diagnostic Delay Paired With Healthcare Economic Burden Analysis, Sheldon R Garrison, Isaac J Siegel, Christopher R Takala, Sarah L Vaithilingam, Gene W Yang, Anthony W Zoghbi, Madeline M Hartig, Sreya Vadapalli, Margaret E Anderson

Duncan NRI Faculty and Staff Publications

Rare genetic diseases (RDs) with primary neuropsychiatric symptoms pose unique challenges for diagnosis and management. While the majority of these RDs have neuropsychiatric symptoms that are secondary to the RD, a subset presents with primary neuropsychiatric symptoms directly linked to their underlying pathophysiology. This subset has significant unmet medical need with delayed diagnoses leading to prolonged delays in treatment optimization and the trialing of medications that fail to target the underlying pathophysiology. This comprehensive review identifies 108 RDs with central neuropsychiatric symptoms that have a 7.7-year average diagnostic delay. Optimal management strategies for these RDs typically includes non-psychotropic medications, dietary …

Safety And Efficacy Of Deep Tms For Adolescent Depression Based On Large Real-World Data Analysis, Yiftach Roth, Aron Tendler, Gaby S Pell, Teejay Tripp, Philip Yam, Dianne Dekeyser, Mah Mekolle, Jayson Tripp, Aaron J Dahl, Owen S Muir, Carlene M Macmillan, Kevin R Rosi, Steven A Harvey, Teresa Poprawski, Kevin M Kinback, Oluremi Adefolarin, Alexander Rohr, Mark E Blair, Diana Ghelber, Raymond Y Cho, Hannah R Kelly, Raymond C Garcia, Amita Jha, Richard A Bermudes, Colleen A Hanlon

Staff and Researcher Publications

Adolescent major depressive disorder (MDD) is a prevalent and serious mental health condition. Pharmacological treatments are commonly used but often have poor tolerability and severe side effects, such as suicidal ideation. Deep transcranial magnetic stimulation (TMS) is currently cleared treating MDD in individuals 22-86 years old. This post-marketing surveillance study was designed to evaluate the safety and efficacy of using this tool as a treatment for MDD in younger patients. Data were collected from 56 sites, resulting in 1257 patients that met inclusion criteria (e.g. 11-21 years old, H1 coil, 18 Hz or iTBS, treatment-resistant MDD). Treatment was well tolerated …

Implementation Of A Discharge Process For Pediatric Patients Hospitalized With Asthma Exacerbations To Improve Post-Discharge Follow-Up, Emiko N. Dudley

Doctor of Nursing Practice Final Project Abstract

Purpose

This quality improvement project aimed to improve pediatric pulmonary outpatient follow-up after hospital discharge for pediatric patients hospitalized with asthma exacerbations through the implementation of a standardized discharge process designed to improve communication, education, and care coordination.

Background

The project was completed in acute care and intermediate care units within a women's and children’s hospital in San Antonio, Texas.

Methodology

Following the IHI Improvement Model, serial PDSA cycles were completed over a 10-week period. An interprofessional team developed a standardized process map and interventions, including a discharge checklist, communication board, patient/family education, medications in hand at discharge, community asthma …

Resting Quantitative Myocardial Perfusion-Essential Clinical Coronary Pathophysiology For Preventing Non-Beneficial Revascularization In Cardiomyopathy, K Lance Gould, Nils P Johnson

Faculty, Staff and Student Publications

No abstract provided.

Prognostic Significance Of Micropapillary Pattern And Risk Factors In Patients With Resected Stage I Lung Adenocarcinoma And Possible Benefit Of Adjuvant Therapy: A Real-World Multicenter Study, Jianjie Li, Yujia Chi, Bo Jia, Qiwen Zheng, Minghan Yuan, Jianjun Zhang, Aishen Zhou, Wei Sun, Yue Yang, Jun Zhao, Tongtong An, Yuyan Wang, Minglei Zhuo, Xue Yang, Hanxiao Chen, Jingjing Wang, Xiaoyu Zhai, Yidi Tai, Yuling He, Lingdong Kong, Xumeng Ji, Yiliang Liu, Nan Wu, Ken Onodera, Paul Van Schil, Mathew Thomas, Fan Yang, Ziping Wang

Faculty, Staff and Student Publications

Background: Micropapillary (MP) pattern has been identified as a negative prognostic factor in patients with lung adenocarcinoma, but it has not been recognized as a high-risk factor for patients with stage IB lung adenocarcinoma treated with adjuvant chemotherapy. This multicenter cohort study aimed to evaluate the prognostic value of histological subtypes for stage I lung adenocarcinoma and to determine the relative survival benefit of adjuvant chemotherapy for subgroups based on MP pattern.

Methods: This retrospective study included 412 patients with stage I lung adenocarcinoma [according the eighth edition of the tumor-node-metastasis (TNM) classification] with MP pattern who underwent complete surgical …

Domains Of Housing Instability And Intimate Partner Violence Risk Among U.S. Tenants, Anairany Zapata, Leila G Wood, Annalynn M Galvin, Wenyaw Chan, Timothy A Thomas, Jack Tsai, Heather K Way, Elizabeth J Mueller, Daphne C Hernandez

Faculty, Staff and Student Publications

While IPV is often studied as a predictor of housing insecurity, few U.S. studies explore how different forms of housing instability may contribute to intimate partner violence (IPV) risk. Using a mixed-methods approach and a cross-sectional design, this study examined the association between four housing instability domains and IPV among a sample of tenants that had either experienced eviction or were at high risk for eviction. Tenants in Harris and Travis counties (Texas, USA) completed an online survey (n = 1085; March–July 2024). Housing instability was assessed across four domains: homelessness, lease violations, utility hardship, and poor housing quality. …

Using Vizient Database For Benchmarking Pulmonary Resection Outcomes, Anuj Shah, Duc T Nguyen, Swetha Mulpur, Sayali Kelkar, Ray K Chihara, Warren Naselsky, Edward A Graviss, Min P Kim

Faculty, Staff and Students Publications

Background: Benchmarking pulmonary resection outcomes is critical for the evaluation of hospital performance and enhancing the quality of patient care. Both the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) and Society of Thoracic Surgeons General Thoracic Surgical Database (GTSD) provide outcomes after lung resection, but each database had its own limitations. We aimed to determine whether the Vizient database can be used to benchmark lung resection outcomes.

Methods: We performed a retrospective cohort analysis of pulmonary resection cases at a single institution using the Vizient dashboard and GTSD. We examined whether all pulmonary resections were captured and …

Single-Cell Transcriptomics Reveals Biomarker Heterogeneity Linked To Cdk4/6 Inhibitor Resistance In Breast Cancer Cell Lines, Ilenia Migliaccio, Martina Bonechi, Dario Romagnoli, Giulia Boccalini, Francesca Galardi, Cristina Guarducci, Agostina Nardone, Rachel Schiff, Laura Biganzoli, Luca Malorni, Matteo Benelli

Faculty, Staff and Students Publications

Cyclin dependent kinases 4 and 6 inhibitors have brought great improvements in the treatment of luminal breast cancer, but resistance is a major clinical hurdle. Multiple biomarkers of resistance have been proposed, but none is currently utilized in clinical practice. By performing single-cell RNA sequencing of seven palbociclib-naïve luminal breast cancer cell lines and palbociclib-resistant derivatives, we show that established biomarkers and pathways related to CDK4/6i resistance present marked intra- and inter- cell-line heterogeneity. Transcriptional features of resistance could be already observed in naïve cells correlating with levels of sensitivity (IC50) to palbociclib. Resistant derivatives showed transcriptional clusters that significantly …

The Eleventh Annual Meeting Of The Southeastern Association Of Shared Resources (Seasr) Nashville, Tn, Usa June 12-14, 2024, Jenny C Schafer, Lyra M Griffiths, Tania E Mesa, Deidre Daria, Daniel Kraushaar, Kristen V Massey, Edith M Sampson, Laura Fox-Goharioon, Laxminarayanan Krishnan, Stacie Woolard, Aaron Pitre

Faculty, Staff and Students Publications

No abstract provided.

Respiratory Failure In Patients With Intracerebral Hemorrhage And Intraventricular Hemorrhage Extension: A Retrospective Study, Min Cheol Chang, Michael Y Lee, Sang Gyu Kwak, Ah Young Lee

Faculty, Staff and Students Publications

Background/Objectives: This study aimed to identify the risk factors for respiratory failure in patients with intracerebral hemorrhage (ICH) accompanied by intraventricular hemorrhage (IVH) extension.

Methods: We retrospectively included 208 patients with ICH accompanied by IVH extension. Respiratory failure was defined as carbon dioxide levels > 45 mmHg with a pH < 7.35 in arterial blood gas analysis (ABGA) or the application of a ventilator due to respiratory dysfunction. We measured the severity of IVH extension using the Graeb scale, and ICH volume was assessed for each patient.

Results: Of the 208 included patients, 83 had respiratory failure. There were no significant differences in age, sex ratio, or Graeb scale score between patients with and without respiratory failure (p > 0.05). However, ICH volume was significantly larger in patients with respiratory failure (42.0 ± 42.5 mL) than …

Total Aortic Arch Replacement Using The Thoraflex Hybrid Device: Evolution From Investigational To Federally Approved Use In The United States, Vicente Orozco-Sevilla, Joseph S Coselli, Susan Y Green, Veronica A Glover, Ricardo De Jesus Avendaño Garnica, Anna H Xue, Lauren K Barron, Marc R Moon

Faculty, Staff and Students Publications

Background: After the US Food and Drug Administration (FDA) approved the Thoraflex Hybrid device in April 2022, hybrid devices to facilitate total arch replacement (TAR) became commercially available in the United States. However, little is known about how the Thoraflex device has been used since then. We present our experience (2016-2025) with this device.

Methods: At our practice, 62 patients [median age, 65 (54-73) years] underwent frozen elephant trunk (FET) TAR with the Thoraflex device: 14 under an investigational device exemption (IDE) (2016-2018) and 48 after FDA approval (2022-2025). Both Ante-Flo (straight) and Plexus (branched) models were used.

Results: Patients …

Impact Of Resources And Structure On Scholarly Productivity In Pediatric Critical Care Fellowship, Andrew G Smith, Danny Castro, Caroline Andy, Angela S Czaja, Donald L Boyer, Erika L Abramson, Pnina Weiss, Richard B Mink

Faculty, Staff and Students Publications

Background: Pediatric critical care medicine (PCCM) fellowship structures vary widely among programs and have not been examined since 2006. The development of scholarly knowledge and skills is an important part of fellowship training. However, the optimal PCCM fellowship structure to enable fellows' scholarly productivity is unknown. Objective: We examined PCCM fellowship time structure and resources to better understand their association with scholarly productivity.

Methods: This is a secondary analysis of cross-sectional survey data from PCCM fellowship program directors. We defined highly productive programs as those in which greater than 75% of fellows published papers from their scholarly projects in the …

Role And Use Of Race In Artificial Intelligence And Machine Learning Models Related To Health, Martin C Were, Ang Li, Bradley A Malin, Zhijun Yin, Joseph R Coco, Benjamin X Collins, Ellen Wright Clayton, Laurie L Novak, Rachele Hendricks-Sturrup, Abiodun O Oluyomi, Shilo Anders, Chao Yan

Faculty, Staff and Students Publications

The role and use of race within health-related artificial intelligence (AI) and machine learning (ML) models have sparked increasing attention and controversy. Despite the complexity and breadth of related issues, a robust and holistic framework to guide stakeholders in their examination and resolution remains lacking. This perspective provides a broad-based, systematic, and crosscutting landscape analysis of race-related challenges, structured around the AI and ML life cycle and framed through "points to consider" to support inquiry and decision-making.

Biotechnology Research Incubator For Teachers (Brite) Pilot Program: Advancing Technology Research Education For Secondary School Teachers, Zhongcheng Shi, Katherine A Harris, Alana D Newell, Michael Nguyen, Yuan Yao, Joel Sederstrom, Cynthia C Hallmark, Sherita Love, Fred A Pereira, Shixia Huang

Faculty, Staff and Students Publications

Introduction: Advanced technologies have transformed diagnostics and therapeutics, improving disease management. Secondary school educators play a vital role in fostering critical thinking, problem-solving, and inspiring students in science, technology, engineering, math, and medicine (STEMM) innovations. Comprehensive teacher training enhances education delivery and ensures long-term advancements in science education, empowering future generations.

Materials and methods: We launched the Biotechnology Research Incubator for Teachers (BRITE) pilot program to train secondary school teachers. This 3-week program immerses teachers in Advanced Technology Core facilities, providing hands-on experience with cutting-edge technologies, such as protein array technology, next-generation sequencing, and flow cytometry. It also offers collaborative …

Retrotransposon Methylation Profiles And Survival In Black Women With High-Grade Serous Ovarian Carcinoma, Christelle Colin-Leitzinger, Katherine A Lawson-Michod, Courtney E Johnson, Irma M Vlasac, Sean Yoder, Tania Mesa, Dana Roeber, Chad Huff, Michelle A T Hildebrandt, Kristin Haller, Anthony J Alberg, Elisa V Bandera, Melissa Bondy, Michele L Cote, Theresa Hastert, Edward S Peters, Paul D Terry, Andrew B Lawson, Andrew Berchuck, Brooke L Fridley, Jing-Yi Chern, Jennifer A Doherty, Jeffrey R Marks, Joellen M Schildkraut, Brock C Christensen, Lucas A Salas, Lauren C Peres

Faculty, Staff and Student Publications

Introduction: Retrotransposons (REs) constitute nearly half of the genome and include long terminal repeat (LTR) elements, Long INterspersed Elements (LINE), and Short INterspersed Elements (SINE). REs are typically silenced in somatic tissues via DNA methylation but can be reactivated through DNA hypomethylation, potentially impacting gene regulation. Here, we investigate genome-scale profiles of RE methylation in high-grade serous ovarian carcinoma (HGSOC) and associations with survival among Black women.

Methods: Methylation levels of LTR, LINE-1, and Alu (type of SINE) in 200 HGSOC tumors were predicted using a random forest approach and clustered using multiple consensus algorithms. Associations between RE methylation clusters …

Unveiling Spatial Heterogeneity In Medulloblastoma: A Multi-Omics Analysis Of Cellular State And Geographical Organization, Jiankang Li, Hailong Liu, Ziwei Wang, Jiao Zhang, Xuan Chen, Craig Daniels, Xiaochong Wu, Olivier Saulnier, Hiromichi Suzuki, Pasqualino De Antonellis, Alexandra Rasnitsyn, Winnie Ong, Evan Y Wang, Liam D Hendrikse, Yu Su, Yu Tian, Dongming Han, Ruohan Wang, Jialin Mo, Fei Liu, Kaiwen Deng, Dongyang Wang, Zhaoyang Feng, Yifei Jiang, Yanong Li, Yuting Ma, Zijia Liu, Meiyu Li, Peiyi Tian, Yanfeng Shi, Yong Jiang, Tao Yang, Shouwei Li, Jianfeng Liang, Jingchuan Wu, Ying Wang, Wanjing Zou, Yina Jiang, Lusheng Wang, Fang Chen, Xin Jin, Shuaicheng Li, Xiaoguang Qiu, Chunde Li, Ya Gao, Yujie Tang, Michael D Taylor, Tao Jiang

Faculty, Staff and Students Publications

Background: Despite numerous studies on medulloblastoma (MB) cell heterogeneity, the spatial characteristics of cellular states remain unclear.

Methods: We analyze single-nucleus and spatial transcriptomes and chromatin accessibility from human MB spanning four subgroups, to identify malignant cell populations and describe the spatial evolutionary trajectories. The spatial copy number variations (CNVs) patterns and niches were analyzed to investigate the cellular interactions.

Results: Three main malignant cell populations were identified, including progenitor-like, cycling, and differentiated populations. Gene signatures of cell populations strongly correlate to clinical outcomes. These tumor cell populations are geographically organized as stem-like and mature regions, highlighting their spatially heterogeneous …

Systematic Review Of Parkinsonism In Cerebrotendinous Xanthomatosis, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Background: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and pyramidal signs, as well as bilateral cataracts and tendon xanthomas. In some cases, CTX also includes parkinsonism. The goals of this study are to develop a data source that provides improved characterization and awareness of parkinsonism in CTX.

Methods: We conducted a systematic review of the literature according to PRISMA guidelines to identify all published individuals diagnosed with CTX and parkinsonism. Clinical signs, imaging findings and treatment response to …