Biomedical Informatics Commons^™

Integrative Multi-Omics Approach For Improving Causal Gene Identification, Austin King, Chong Wu

Faculty, Staff and Student Publications

Transcriptome-wide association studies (TWAS) have been widely used to identify thousands of likely causal genes for diseases and complex traits using predicted expression models. However, most existing TWAS methods rely on gene expression alone and overlook other regulatory mechanisms of gene expression, including DNA methylation and splicing, that contribute to the genetic basis of these complex traits and diseases. Here we introduce a multi-omics method that integrates gene expression, DNA methylation, and splicing data to improve the identification of associated genes with our traits of interest. Through simulations and by analyzing genome-wide association study (GWAS) summary statistics for 24 complex …

Chronic Circadian Misalignment Accelerates Sarcopenia Progression In Mice, Takashi Seya, Nobuya Koike, Naoki Okubo, Yasuhiro Umemura, Yoshiki Tsuchiya, Kazuya Yabumoto, Yasuhiro Endo, Kanako Iinuma, Akiyo Kakibuchi, Akira Sugimoto, Kenji Takahashi, Seung-Hee Yoo, Zheng Chen, Kazuhiro Yagita

Faculty, Staff and Student Publications

Introduction: In today's 24/7 society, circadian misalignment caused by environmental and lifestyle factors is associated with various adverse health consequences. Understanding tissue-specific pathology is required to counter this growing public health challenge. A potential association of environmental circadian misalignment with sarcopenia, or accelerated loss of skeletal muscle strength and mass, is poorly documented.

Methods: 14-week-old wild-type C57BL/6J male mice were exposed to a chronic jet lag (CJL) paradigm consisting of an 8-h phase advance every 4 days (the ADV group) or a fixed light-dark cycle (the LD group) for 64 weeks. Grip strength was measured during the experiment, and hindlimb …

Limitations Of The Radiotheranostic Concept In Neuroendocrine Tumors Due To Lineage-Dependent Somatostatin Receptor Expression On Hematopoietic Stem And Progenitor Cells, Nghia Nguyen, Yu Min, Jennifer Rivière, Mark Van Der Garde, Sukhen Ghosh, Laura M Bartos, Matthias Brendel, Florian Bassermann, Ali Azhdarinia, Wolfgang A Weber, Katharina S Götze, Susanne Kossatz

Faculty, Staff and Student Publications

Rationale: Radiopharmaceutical therapy (RPT) has become an effective treatment option for neuroendocrine tumors (NETs) and castration-resistant prostate cancer and is in clinical development for many indications. One of the major advantages of theranostic RPT is that the distribution of radiopharmaceuticals in the human body can be imaged, and radiation doses to the patient's organs can be calculated. However, accurate dosimetry may be fundamentally limited by microscopic heterogeneity of radiopharmaceutical distribution.

Methods: We developed fluorescent analogs of somatostatin-receptor-subtype 2 (SSTR2) targeting Lutetium-177 labeled radiopharmaceuticals that are clinically used in patients with NETs and studied their uptake by hematopoietic stem and progenitor …

New Insights Into Liver Injury And Regeneration From Single-Cell Transcriptomics, Yankai Wen, Cynthia Ju

Faculty, Staff and Student Publications

Recent advancements in single-cell transcriptomics have significantly enhanced our understanding of acute liver injury (ALI) and regeneration. These technologies enable high-resolution profiling of individual cells, uncovering the diverse and dynamic responses of liver cells to injury. By integrating single-cell RNA sequencing (scRNA-seq) with spatial transcriptomics, researchers have elucidated the complex cellular and molecular mechanisms driving ALI and regeneration processes. This review summarises the platforms and analytical methods of single-cell transcriptomics in liver research and discusses liver sample processing considerations for scRNA-seq, including the comparison between in vivo enzymatic perfusion and ex vivo digestion. It highlights the transformative impact of single-cell …

Editorial: Immunoregulation By Adenosine Signaling In Infection And Inflammation, Xiangsheng Huang, Weidong Zhao, Tingting Mills, Lei Shi, Xiaoyi Yuan

Faculty, Staff and Student Publications

No abstract provided.

Peripheral Administration Of Blood From Tau Transgenic Animals Exacerbates Brain Tau-Associated Pathology, Laura Vegas-Gomez, Matias Pizarro, Jesus Garcia-Martin, Maria Angeles Arredondo-Alcala, Bianca Bustamante, Carolina Gonzalez-Silva, Soledad Matus, Rodrigo Diaz-Espinoza, Antonia Gutierrez, Rodrigo Morales, Claudia Duran-Aniotz, Ines Moreno-Gonzalez

Faculty, Staff and Student Publications

The accumulation of amyloid plaques and neurofibrillary tangles are pathological hallmarks of Alzheimer's disease (AD). While amyloid-beta propagation through prion-like mechanisms has been extensively studied in both central and peripheral pathways, the potential spreading of tau aggregates in the periphery remains largely unexplored. Emerging evidence suggests that hyperphosphorylated tau (ptau) aggregates may propagate beyond the central nervous system, as they have been detected in peripheral tissues and biological fluids from humans and mouse models of tauopathies. However, whether peripheral ptau aggregates or other factors associated to its accumulation contribute to brain pathology remains unclear. In this study, we investigate the …

Distribution Of Chronic Wasting Disease (Cwd) Prions In Tissues From Experimentally Exposed Coyotes (Canis Latrans), Nancy Ho, Reece Mcginn, Paulina Soto, Terry R Spraker, Justin Fischer, Kurt Vercauteren, Tracy Nichols, Rodrigo Morales

Faculty, Staff and Student Publications

Cervids susceptible to chronic wasting disease (CWD) are sympatric with multiple other animal species that can interact with infectious prions. Several reports have described the susceptibility of other species to CWD prions, or their potential to transport them. One of these species is the coyote (Canis latrans), which has been previously shown to pass transmission-relevant prion titers in their feces for at least three days after ingesting prion-positive brain material. The current study followed up on these findings and evaluated the distribution of prions in multiple tissues from the same coyotes. Our results show that prions persist in the digestive …

Identification Of Prothrombin Belgrade Variant In A Mexican-American Family With Recurrent Deep Vein Thrombosis, Émile Moura Coelho Da Silva, Natalie Montanez, Miguel Escobar

Faculty, Staff and Student Publications

A rare prothrombin variant (c.1787G > A, p.Arg596Gln), also known as the prothrombin Belgrade variant, has been associated with an increased predisposition to thrombosis through resistance to antithrombin. This variant has been previously reported in individuals from Serbia, Japan, China, and India. In this case report, we described the first reported case of heterozygosity for the prothrombin Belgrade variant in a Mexican-American family. Affected individuals had negative results on standard hypercoagulable studies; however, they exhibited a history of early-onset and recurrent venous thromboembolism (VTE). Although rare, the prothrombin Belgrade variant-and other prothrombin variants associated with antithrombin resistance-may be underrecognized in patients …

Novel Volumetric Modulated Arc Therapy Approach For Lattice Radiation Therapy For Bulky Liver Tumors, Christine V Chung, Saurabh S Nair, Meena S Khan, Callistus I Nguyen, Rachael M Martin-Paulpeter, Ethan B Ludmir, Laurence E Court, Joshua S Niedzielski

Faculty, Staff and Student Publications

Purpose: Lattice radiation therapy (LRT) is a type of spatially fractionated radiation therapy that has emerged as an effective treatment approach for bulky solid tumors. RapidArc Dynamic (RAD) is a novel beam delivery approach that may be advantageous for LRT. The purpose of this in silico study was to evaluate and compare a novel RAD-based LRT approach (RAD-LRT) with conventional volumetric modulated arc therapy (VMAT)-based LRT (VMAT-LRT).

Methods: Twenty patients with bulky liver tumors treated with RT were retrospectively identified. VMAT-LRT and RAD-LRT plans were generated for all patients. Lattice spheres were placed in a standardized hexagonal pattern with alternating …

Accumulated Seizure Burden Predicts Neurodevelopmental Outcome At 36 Months Of Age In Patients With Tuberous Sclerosis Complex, S Katie Z Ihnen, Samuel Alperin, Jamie K Capal, Alexander L Cohen, Jurriaan M Peters, E Martina Bebin, Hope A Northrup, Mustafa Sahin, Darcy A Krueger

Faculty, Staff and Student Publications

Objective: Epilepsy and intellectual disability are common in tuberous sclerosis complex (TSC). Although early life seizures and intellectual disability are known to be correlated in TSC, the differential effects of age at seizure onset and accumulated seizure burden on development remain unclear.

Methods: Daily seizure diaries, serial neurodevelopmental testing, and brain magnetic resonance imaging were analyzed for 129 TSC patients followed from 0 to 36 months. We used machine learning to identify subgroups of patients based on neurodevelopmental test scores at 36 months of age and assessed the stability of those subgroups at 12 months. We tested the ability of …

Real-World Outcomes Of Upfront Autologous Hematopoietic Stem Cell Transplantation In Patients With Newly Diagnosed Multiple Myeloma With Deletion 17p, Curtis Marcoux, Oren Pasvolsky, Denái R Milton, Mark R Tanner, Qaiser Bashir, Samer Srour, Neeraj Saini, Paul Lin, Jeremy Ramdial, Yago Nieto, Guilin Tang, Hans C Lee, Krina K Patel, Partow Kebriaei, Amna Ahmed, Yosra Aljawai, Sheeba K Thomas, Robert Z Orlowski, Elizabeth J Shpall, Richard E Champlin, Muzaffar H Qazilbash

Faculty, Staff and Student Publications

Despite tremendous advancements in multiple myeloma (MM) therapeutics, outcomes remain heterogeneous, heavily influenced by clinical and cytogenetic factors. Among these, deletion of the short arm of chromosome 17 (del(17p)) is a strong predictor of poor prognosis. The aim of this study was to evaluate real-world outcomes in patients with newly diagnosed MM (NDMM) with del(17p) undergoing upfront autologous hematopoietic stem cell transplantation (auto-HCT). We conducted a single-center retrospective analysis of patients with NDMM who underwent upfront auto-HCT at MD Anderson Cancer Center between 2008 and 2018. Primary endpoints were progression-free survival (PFS) and overall survival (OS), with secondary endpoints being …

Exacerbation Of Paclitaxel-Induced Neuropathic Pain Behaviors In Breast Tumor-Bearing Mice, Hee Kee Kim, Juping Xing, Youn-Sang Jung, Jae-Il Park, Hee Young Kim, Jimin Kim, Salahadin Abdi

Faculty, Staff and Student Publications

Background: Chronic pain and cancer interact bidirectionally, with pain enhancing sensory peptides and potentially promoting tumor growth. Despite this, most chemotherapy-induced neuropathic pain (CIPN) studies overlook the contribution of cancer itself to neuropathy, focusing instead on chemotherapy-induced mechanisms. Animal models of chemotherapy-induced neuropathic pain (CINP) have been developed by injecting chemotherapeutic drugs such as paclitaxel into normal animals without cancer. This study aimed to develop a new model in mouse mammary tumor virus-polyomavirus middle T antigen (MMTV-PyMT) mice, a widely used breast cancer model with normal immune function.

Results: The percentage of positive response (PPR) of paclitaxel-injected MMTV-PyMT mice increased …

A New, Early Cretaceous Carettochelyid Turtle From South Korea Provides Insights Into Softshell Evolution And Aquatic Ecology, Minguk Kim, Jongyun Jung, Walter G Joyce, Jae-Il Park, Hye-Yeon Jung, Hyemin Jo, Min Huh

Faculty, Staff and Student Publications

Here, we present a new Cretaceous carettochelyid turtle, Byeoljubuchelys yeosuensis gen. et sp. nov., from the Lower Cretaceous Hasandong Formation of Yeosu, Korea. A nearly complete shell and select elements of the girdles and limbs provide crucial insight into the evolution and aquatic adaptation of this family. Phylogenetic analyses place Byeoljubuchelys yeosuensis at the most basal position within Carettochelyidae. The mid-sized plastron of Byeoljubuchelys yeosuensis appears to be plesiomorphic for the group. The expansion of the plastron during carettochelyid evolution, especially during the Paleogene, may be an evolutionary response to increasing body size or the threat of mammalian predators. …

Practical Application Of Multivendor Mri-Based R2* Mapping For Liver Iron Quantification At 15 T And 30 T, Gregory Simchick, Ruiyang Zhao, Qing Yuan, Mounes Aliyari Ghasabeh, Stefan Ruschke, Dimitrios C Karampinos, David T Harris, Raphael Do Vale Souza, Ryan J Mattison, Michael R Jeng, Ivan Pedrosa, Ihab R Kamel, Shreyas Vasanawala, Takeshi Yokoo, Scott B Reeder, Diego Hernando

Faculty, Staff and Student Publications

Background: Recent multicenter, multivendor MRI-based R2* vs. liver iron concentration (LIC) calibrations (i.e., MCMV calibrations) may facilitate broad clinical dissemination of R2*-based LIC quantification. However, these calibrations are based on a centralized offline R2* reconstruction, and their applicability with vendor-provided R2* maps is unclear.

Purpose: To determine R2* ranges of agreement between the centralized and three MRI vendors' R2* reconstructions.

Study type: Prospective.

Subjects: Two hundred and seven subjects (mean age 37.6 ± 19.6 years; 117 male) with known or suspected iron overload from four academic medical centers.

Field strength/sequence: Standardized multiecho spoiled gradient echo sequence at 1.5 T and …

Development Of Microcystoid Macular Degeneration In The Retina Of Nonhuman Primates: Time-Course And Associated Pathologies, Thomas C M Lavery, Carol A Rasmussen, Alexander W Katz, Charlene B Y Kim, James N Ver Hoeve, Paul E Miller, Peter J Sonnentag, Brian J Christian, Christopher J Murphy, David R Piwnica-Worms, Seth T Gammon, Xudong Qiu, Paul L Kaufman, T Michael Nork

Faculty, Staff and Student Publications

Purpose: Microcystoid macular degeneration (MMD) is a condition where cystoid vacuoles develop within the inner nuclear layer of the retina in humans in a variety of disorders. Here we report the occurrence of MMD in non-human primates (NHPs) with various retinal ganglion cell (RGC) pathologies and evaluate the hypothesis that MMD does not precede RGC loss but follows it.

Methods: Morphological studies were performed of the retinas of NHPs, specifically both rhesus (Macaca mulatta) and cynomolgus macaques (Macaca fascicularis), in which MMD was identified after induction of experimental glaucoma (EG), hemiretinal endodiathermy axotomy (HEA), and spontaneous …

Generalizable Self-Supervised Learning For Brain Cta In Acute Stroke, Yingjun Dong, Samiksha Pachade, Kirk Roberts, Xiaoqian Jiang, Sunil A Sheth, Luca Giancardo

Faculty, Staff and Student Publications

Acute stroke management involves rapid and accurate interpretation of CTA imaging data. However, generalizable models for multiple acute stroke tasks able to learn from unlabeled data do not exist. We propose a linear probed self-supervised contrastive learning utilizing 3D CTA images and the findings section of radiologists' reports for pretraining. Subsequently, the pretrained model was applied to four disparate tasks: large vessel occlusion (LVO) detection, acute ischemic stroke detection, acute ischemic stroke, intracerebral hemorrhage classification, and ischemic core volume prediction. The tasks chosen are particularly challenging as they cannot be directly extracted from the radiology reports findings with keywords. The …

Unraveling Complex Temporal Patterns In Ehrs Via Robust Irregular Tensor Factorization, Ren Yifei, Linghui Zeng, Jian Lou, Li Xiong, Joyce C Ho, Xiaoqian Jiang, Sivasubramanium V Bhavani

Faculty, Staff and Student Publications

Electronic health records (EHRs) contain diverse patient data with varying visit frequencies. While irregular tensor factorization techniques such as PARAFAC2 have been used for extracting meaningful medical concepts from EHRs, existing methods fail to capture non-linear and complex temporal patterns and struggle with missing entries. In this paper, we propose REPAR, an RNN REgularized Robust PARAFAC2 method to model complex temporal dependencies and enhance robustness in the presence of missing data. Our approach employs Recurrent Neural Networks (RNNs) for temporal regularization and a low-rank constraint for robustness, enabling precise patient subgroup identification and improved clinical decision-making in noisy EHR data. …

Pain Phenotyping Indicators In Older Adults With Chronic Low Back Pain: A Secondary Analysis Of A Randomized Controlled Trial, Katrina R Hamilton, Nada Lukkahatai, Wanqi Chen, Hulin Wu, Jennifer Kawi, Constance M Johnson, Paul J Christo, Claudia M Campbell

Faculty, Staff and Student Publications

Purpose: A multimodal approach to clinical care is often recommended for chronic low back pain (cLBP); however, treatment responses are highly variable. Phenotyping could help determine subgroups of patients, allowing for targeted and tailored interventional approaches.

Patients and methods: 263 (Mage=69.8 (7.2); 64.6% female) individuals with cLBP participated in the parent study, a 3-arm, randomized clinical trial examining auricular point acupressure treatment outcomes. Parent study participants were randomized (1:1:1) to APA ear points targeted to cLBP (T-APA, n=92), non-targeted to cLBP (NT-APA, n=91), or education control (n=89). The current study used latent class analysis to identify clustering for pain severity …

Explainable Diagnosis Prediction Through Neuro-Symbolic Integration, Qiuhao Lu, Rui Li, Elham Sagheb, Andrew Wen, Jinlian Wang, Liwei Wang, Jungwei W Fan, Hongfang Liu

Faculty, Staff and Student Publications

Diagnosis prediction is a critical task in healthcare, where timely and accurate identification of medical conditions can significantly impact patient outcomes. Traditional machine learning and deep learning models have achieved notable success in this domain but often lack interpretability which is a crucial requirement in clinical settings. In this study, we explore the use of neuro-symbolic methods, specifically Logical Neural Networks (LNNs), to develop explainable models for diagnosis prediction. Essentially, we design and implement LNN-based models that integrate domain-specific knowledge through logical rules with learnable weights and thresholds. Our models, particularly Mmulti-pathway and Mcomprehensive, demonstrate superior performance over traditional models …

Rank Aggregation Methods And Tools In Genomic Data Analysis, Wenping Zou, Savannah Mwesigwa, Sayed-Rzgar Hosseini, Zhongming Zhao

Faculty, Staff and Student Publications

Rank aggregation (RA) is the process of consolidating disparate rankings into a single unified ranking. It holds immense potential in the field of genomics. RA has applications in diverse research areas, such as gene expression analysis, meta-analysis, gene prioritization, and biomarker discovery. However, there are many challenges in the application of the RA approach to biological data, such as dealing with heterogeneous data sources, rankings of mixed quality, and evaluating the consolidated rankings. In this review, we present an overview of the existing RA methods with an emphasis on those that have been tailored to the complexities of genomics research. …

Session Introduction: Translating Big Data Imaging Genomics Findings To The Individual: Prediction Of Risks And Outcomes In Neuropsychiatric Illnesses, Peter Kochunov, Li Shen, Zhongming Zhao, Paul M Thompson

Faculty, Staff and Student Publications

This PSB 2025 session is focused on opportunities, challenges and solutions for translating Big Data Imaging Genomic findings toward powering decision making in personalized medicine and guiding individual clinical decisions. It combines many of the scientific directions that are of interest to PSB members including Big Data analyses, pattern recognition, machine learning and AI, electronic health records and others.

Temporal Ensemble Logic For Integrative Representation Of The Entirety Of Clinical Trials, Xiaojin Li, Yan Huang, Rashmie Abeysinghe, Zenan Sun, Hongyu Chen, Pengze Li, Xing He, Shiqiang Tao, Cui Tao, Jiang Bian, Licong Cui, Guo-Qiang Zhang

Faculty, Staff and Student Publications

Clinical trials are typically specified with protocols that define eligibility criteria, treatment regimens, follow-up schedules, and outcome assessments. Temporality is a hallmark of all clinical trials, reflected within and across trial components, with complex dependencies unfolding across multiple time points. Despite their importance, clinical trial protocols are described in free-text format, limiting their semantic precision and the ability to support automated reasoning, leverage data across studies and sites, or simulate trial execution under varying assumptions using Real-World Data. This paper introduces a formalized representation of clinical trials using Temporal Ensemble Logic (TEL). TEL incorporates metricized modal operators, such as “always …

Introducing Advances In Health Information Science And Practice, Susan Fenton

Faculty, Staff and Student Publications

No abstract provided.

Deep Brain Stimulation Of The Medial Forebrain Bundle: Effects On Anhedonia And Behavioral Activation In Treatment-Resistant Depression, Andrea Boscutti, Bashar Asir, Isabela Moura, Albert Fenoy, João Quevedo, Jair C Soares

Faculty, Staff and Student Publications

No abstract provided.

Non-Invasive Measurement Of Elasticity In Glioblastoma Multiforme Validates Decreased Tmz Sensitivity In Astrocyte Co-Culture, Megan Mendieta, Maryam Hatami, Manmohan Singh, Sajedeh Saeidi Fard, Mohammad Dehshiri, Alexander Schill, Dmitry Nevozhay, Salavat Aglyamov, Bulent Ozpolat, Konstantin V Sokolov, Yasemin M Akay, Kirill V Larin, Metin Akay

Faculty, Staff and Student Publications

Goal: In this research, we investigated the changes in elasticity of in vitro glioblastoma multiforme (GBM) spheroids when treated with the gold standard chemotherapy for GBM, Temozolomide (TMZ). Additionally, we aimed to use this alternative biomarker to assess how modifying the tumor microenvironment (TME) with the addition of human astrocytes (HA) would influence treatment efficacy. Methods: Spheroid stiffness was investigated using advanced non-invasive optical techniques, nanobomb optical coherence elastography (nb-OCE) and Brillouin microscopy to obtain new biomechanical insights by assessing local tumor progression or response to therapy using GBM cells (LN229). Results: The treated monocultured GBM groups showed a significant …

Examining The Presence And Effects Of Coherence And Fragmentation In The Gulf Of Maine Fishery Management Network, Derek Katznelson, Antonia Sohns, Dongkyu Kim, Evelyn Roozee, William R Donner, Andrew M Song, Jasper R De Vries, Owen Temby, Gordon M Hickey

Faculty, Staff and Student Publications

Natural resource management networks cohere due to mutual dependencies and fragment, in part, due to the perceived risks of interaction. However, research on these networks has tended to accept coherence a priori rather than problematizing dependence, and few studies exist on interorganizational risk perception. This article presents the results of a study operationalizing these concepts and measuring the distribution of three types of dependence (capital, legitimacy, and regulatory) and two types of perceived risk (performance and sanction) among nearly fifty stakeholder groups and organizations participating in the management of fisheries in the binational Gulf of Maine. The analysis reveals an …

Nrg Oncology White Paper On The Relative Biological Effectiveness In Proton Therapy, Harald Paganetti, Charles B Simone, Walter R Bosch, Daphne Haas-Kogan, David G Kirsch, Heng Li, Xiaoying Liang, Wei Liu, Anita Mahajan, Michael D Story, Paige A Taylor, Henning Willers, Ying Xiao, Jeffrey C Buchsbaum

Faculty, Staff and Student Publications

This position paper, led by the NRG Oncology Particle Therapy Work Group, focuses on the concept of relative biologic effect (RBE) in clinical proton therapy (PT), with the goal of providing recommendations for the next-generation clinical trials with PT on the best practice of investigating and using RBE, which could deviate from the current standard proton RBE value of 1.1 relative to photons. In part 1, current clinical utilization and practice are reviewed, giving the context and history of RBE. Evidence for variation in RBE is presented along with the concept of linear energy transfer (LET). The intertwined nature of …

Editorial: Ovarian Cancer Targeted Medication: Parp Inhibitors, Anti-Angiogenic Drugs, Immunotherapy, And More, Volume Ii, Zhi-Bin Wang, De-Hua Liao, Guang Lei, Zhao-Qian Liu, Nayiyuan Wu, Jing Wang

Faculty, Staff and Student Publications

No abstract provided.

Individualized Frequency And Montage Tacs To Engage Theta-Gamma Coupling And Enhance Working Memory In Mild Cognitive Impairment, Mina Mirjalili, Iryna S Palamarchuk, Heather Brooks, Reza Zomorrodi, Ashley Melichercik, Wei Wang, Sean M Nestor, Daniel M Blumberger, Abhishek Datta, Christopher Bowie, Bernadette Mdawar, Kullervo Hynynen, Sanjeev Kumar, Tarek K Rajji

Faculty, Staff and Student Publications

Mild Cognitive Impairment (MCI) is a clinical prodromal stage of Alzheimer's disease. Enhancing executive functions in patients with MCI could optimize cognitive compensatory mechanisms and slow cognitive decline. The prefrontal cortex (PFC) and its connections to the hippocampus support executive functions, including working memory. Transcranial alternating current stimulation (tACS) can modulate these connections by engaging theta-gamma coupling (TGC) and may thereby strengthen working memory. This study, "tACS to engage theta-gamma coupling and enhance working memory in MCI" (tACS-MCI), will assess the feasibility and cognitive effects of EEG and MRI-guided individualized tACS. The stimulation will target the prefrontal and temporal cortices …

Comprehensive Genomic Analysis Reveals Molecular Heterogeneity In Pediatric Alk-Positive Anaplastic Large Cell Lymphoma, Timothy I Shaw, Stanley Pounds, Xueyuan Cao, Jing Ma, Gustavo Palacios, John Mason, Sherrie Perkins, Gang Wu, Yiping Fan, Jian Wang, Xin Zhou, Alyssa Obermayer, Marsha C Kinney, Jacqueline Kraveka, Thomas Gross, John Sandlund, Jinghui Zhang, Charles Mullighan, Megan S Lim, Vasiliki Leventaki

Faculty, Staff and Student Publications

Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that accounts for 10-15% of childhood lymphomas. Despite the observation that more than 90% of pediatric cases harbor the anaplastic lymphoma kinase (ALK) rearrangement resulting in aberrant ALK kinase expression, there is significant clinical, morphologic, and biological heterogeneity. To gain insights into the genomic aberrations and molecular heterogeneity within ALK-positive ALCL (ALK+ ALCL), we analyzed 46 pediatric ALK+ ALCLs by whole-exome sequencing, RNA sequencing, and DNA methylation profiling. Whole-exome sequencing found on average 25 SNV/Indel events per sample with recurring genetic events in regulators of DNA damage (TP53, MDM4), transcription …