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Articles 6901 - 6930 of 42126

Full-Text Articles in Medicine and Health Sciences

A Review Of The Role Of Single-Cell Rna-Sequencing (Scrna-Seq) In The Transcriptome Analysis Of Ductal Carcinoma In Situ (Dcis), Ali Maeve Fitzgerald, Francesca Tiso, Eldar T. Abdullaev, Kirsten Kübler Jul 2024

A Review Of The Role Of Single-Cell Rna-Sequencing (Scrna-Seq) In The Transcriptome Analysis Of Ductal Carcinoma In Situ (Dcis), Ali Maeve Fitzgerald, Francesca Tiso, Eldar T. Abdullaev, Kirsten Kübler

International Undergraduate Journal of Health Sciences

Ductal carcinoma in situ (DCIS) remains one of the most reported lesions detected by mammography screening programmes, yet our understanding of its progression to malignancy and markers of invasiveness is limited. Although a non-obligate precursor of invasive ductal carcinoma (IDC), all currently diagnosed DCIS patients are indiscriminately subjected to mastectomy or breast-conserving therapy (BCT) and radiotherapy. With less than 50% of untreated DCIS progressing to IDC, questions have been raised surrounding the over-treatment of indolent DCIS.

Thus, one of the central clinical challenges is to assess the risk of disease progression, which has prompted research efforts aimed at refining prognostic …


Membrane Vectorial Lipidomic Features Of Coral Host Cells’ Plasma Membrane And Lipid Profiles Of Their Endosymbionts Cladocopium, Tatyana V Sikorskaya, Ekaterina V Ermolenko, Taliya T Ginanova, Andrey V Boroda, Kseniya V Efimova, Mikhail Bogdanov Jul 2024

Membrane Vectorial Lipidomic Features Of Coral Host Cells’ Plasma Membrane And Lipid Profiles Of Their Endosymbionts Cladocopium, Tatyana V Sikorskaya, Ekaterina V Ermolenko, Taliya T Ginanova, Andrey V Boroda, Kseniya V Efimova, Mikhail Bogdanov

Faculty, Staff and Student Publications

The symbiotic relationships between coral animal host and autotrophic dinoflagellates are based on the mutual exchange and tight control of nutritional inputs supporting successful growth. The corals Sinularia heterospiculata and Acropora aspera were cultivated using a flow-through circulation system supplying seawater during cold and warm seasons of the year, then sorted into host cells and symbionts and subjected to phylogenetic, morphological, and advanced lipid analyses. Here we show, that the lipidomes of the dinoflagellates Cladocopium C1/C3 and acroporide-specific Cladocopium hosted by the corals, are determined by lipidomic features of different thermosensitivity and unique betaine- and phospholipid molecular species. Phosphatidylserines and …


Prediction Of Mild Cognitive Impairment Status: Pilot Study Of Machine Learning Models Based On Longitudinal Data From Fitness Trackers, Qidi Xu, Yejin Kim, Karen Chung, Paul Schulz, Assaf Gottlieb Jul 2024

Prediction Of Mild Cognitive Impairment Status: Pilot Study Of Machine Learning Models Based On Longitudinal Data From Fitness Trackers, Qidi Xu, Yejin Kim, Karen Chung, Paul Schulz, Assaf Gottlieb

Faculty, Staff and Student Publications

BACKGROUND: Early signs of Alzheimer disease (AD) are difficult to detect, causing diagnoses to be significantly delayed to time points when brain damage has already occurred and current experimental treatments have little effect on slowing disease progression. Tracking cognitive decline at early stages is critical for patients to make lifestyle changes and consider new and experimental therapies. Frequently studied biomarkers are invasive and costly and are limited for predicting conversion from normal to mild cognitive impairment (MCI).

OBJECTIVE: This study aimed to use data collected from fitness trackers to predict MCI status.

METHODS: In this pilot study, fitness trackers were …


Targeted Sequencing For Hereditary Breast And Ovarian Cancer In Brca1/2-Negative Families Reveals Complex Genetic Architecture And Phenocopies, Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Bridget A Sefranek, Mark L Stacey, Samuel P Anderson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Yusi Fu, Holly A F Stessman Jul 2024

Targeted Sequencing For Hereditary Breast And Ovarian Cancer In Brca1/2-Negative Families Reveals Complex Genetic Architecture And Phenocopies, Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Bridget A Sefranek, Mark L Stacey, Samuel P Anderson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Yusi Fu, Holly A F Stessman

Faculty, Staff and Student Publications

Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%-25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, and further sequencing studies were rarely offered after negative results. In this study, we applied an efficient and inexpensive targeted sequencing approach to provide molecular diagnoses in 245 human samples representing 134 BRCA mutation-negative (BRCAX) hereditary breast and ovarian cancer (HBOC) families recruited from 1973 to 2019 by Dr. Henry Lynch. Sequencing identified 391 variants, which were functionally annotated and ranked based on their …


In Vitro Data Suggest A Role For Pms2 Kozak Sequence Mutations In Lynch Syndrome Risk, Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Holly A F Stessman Jul 2024

In Vitro Data Suggest A Role For Pms2 Kozak Sequence Mutations In Lynch Syndrome Risk, Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Holly A F Stessman

Faculty, Staff and Student Publications

This study investigates the role of 5′ UTR PMS2 Kozak sequence genetic variation in cancer risk. It accomplishes this through the development of a mid-throughput reporter assay where variants can be tested for protein translation efficiency. The results highlight the importance of continued study of the Kozak sequence related to human disease.


Investigating Gene Functions And Single-Cell Expression Profiles Of De Novo Variants In Orofacial Clefts, Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W Curtis, Elizabeth J Leslie, Lukas M Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao Jul 2024

Investigating Gene Functions And Single-Cell Expression Profiles Of De Novo Variants In Orofacial Clefts, Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W Curtis, Elizabeth J Leslie, Lukas M Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de novo variants (DNVs) have been identified from individuals with OFCs. Some DNVs are related to known OFC genes or pathways, but there are still many DNVs whose relevance to OFC development is unknown. To explore novel gene functions and their cellular expression profiles, we focused on DNVs in genes that were not listed in OMIM. We collected 960 DNVs in 853 genes from published studies and curated these genes, …


Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao Jul 2024

Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are among the most common human congenital birth defects. Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Although several nearby genes have been highlighted, the "casual" variants are largely unknown. Here, we developed DeepFace, a convolutional neural network model, to assess the functional impact of variants by SNP activity difference (SAD) scores. The DeepFace model is trained with 204 epigenomic assays from crucial human embryonic craniofacial developmental stages of post-conception week (pcw) 4 to pcw 10. The Pearson correlation coefficient between …


Crispr-Cas9 And Cas12a Target Site Richness Reflects Genomic Diversity In Natural Populations Of Anopheles Gambiae And Aedes Aegypti Mosquitoes, Travis C Collier, Yoosook Lee, Derrick K Mathias, Víctor López Del Amo Jul 2024

Crispr-Cas9 And Cas12a Target Site Richness Reflects Genomic Diversity In Natural Populations Of Anopheles Gambiae And Aedes Aegypti Mosquitoes, Travis C Collier, Yoosook Lee, Derrick K Mathias, Víctor López Del Amo

Faculty, Staff and Student Publications

Due to limitations in conventional disease vector control strategies including the rise of insecticide resistance in natural populations of mosquitoes, genetic control strategies using CRISPR gene drive systems have been under serious consideration. The identification of CRISPR target sites in mosquito populations is a key aspect for developing efficient genetic vector control strategies. While genome-wide Cas9 target sites have been explored in mosquitoes, a precise evaluation of target sites focused on coding sequence (CDS) is lacking. Additionally, target site polymorphisms have not been characterized for other nucleases such as Cas12a, which require a different DNA recognition site (PAM) and would …


Epigenome-Wide Association Study Of Lung Cancer Among Never Smokers In Two Prospective Cohorts In Shanghai, China, Mohammad L Rahman, Charles E Breeze, Xiao-Ou Shu, Jason Y Y Wong, Batel Blechter, Andres Cardenas, Xuting Wang, Bu-Tian Ji, Wei Hu, Qiuyin Cai, H Dean Hosgood, Gong Yang, Jianxin Shi, Jirong Long, Yu-Tang Gao, Douglas A Bell, Wei Zheng, Nathaniel Rothman, Qing Lan Jul 2024

Epigenome-Wide Association Study Of Lung Cancer Among Never Smokers In Two Prospective Cohorts In Shanghai, China, Mohammad L Rahman, Charles E Breeze, Xiao-Ou Shu, Jason Y Y Wong, Batel Blechter, Andres Cardenas, Xuting Wang, Bu-Tian Ji, Wei Hu, Qiuyin Cai, H Dean Hosgood, Gong Yang, Jianxin Shi, Jirong Long, Yu-Tang Gao, Douglas A Bell, Wei Zheng, Nathaniel Rothman, Qing Lan

Faculty, Staff and Student Publications

BACKGROUND: The aetiology of lung cancer among individuals who never smoked remains elusive, despite 15% of lung cancer cases in men and 53% in women worldwide being unrelated to smoking. Epigenetic alterations, particularly DNA methylation (DNAm) changes, have emerged as potential drivers. Yet, few prospective epigenome-wide association studies (EWAS), primarily focusing on peripheral blood DNAm with limited representation of never smokers, have been conducted.

METHODS: We conducted a nested case-control study of 80 never-smoking incident lung cancer cases and 83 never-smoking controls within the Shanghai Women's Health Study and Shanghai Men's Health Study. DNAm was measured in prediagnostic oral rinse …


Hiv/Aids-Associated Knowledge And Attitudes Towards Treating Disadvantaged Communities Among Pre-Community-Based Dental Education Dental Students In The Us, Aditi Tomar, Hannah Balcezak, Shirley Lewis Miranda, Marie C Latortue, Richa Chinchkhandi, Lisa Wigfall Jul 2024

Hiv/Aids-Associated Knowledge And Attitudes Towards Treating Disadvantaged Communities Among Pre-Community-Based Dental Education Dental Students In The Us, Aditi Tomar, Hannah Balcezak, Shirley Lewis Miranda, Marie C Latortue, Richa Chinchkhandi, Lisa Wigfall

Faculty, Staff and Student Publications

This study examines HIV/AIDS-associated knowledge and attitudes towards treating disadvantaged communities among predoctoral dental students in U.S. dental schools who have not yet commenced their Community-Based Dental Education (CBDE) training. It also compares the difference in the knowledge and attitudes between students with reported community engagement with PLWHA and those without. Our study comprised 89 predoctoral dental students within their D1-D3 years of dental school who had not yet initiated their Community-Based Dental Education (referred to as pre-CBDE dental students). Their responses were collected via an online survey. The participants were 68% females, 94% heterosexual, and with a mean age …


Effect Of Resistance Training On Physical Function During Chemotherapy In Colon Cancer, Justin C. Brown, Shengping Yang, Stephanie L.E. Compton, Kristin L. Campbell, Elizabeth M. Cespedes Feliciano, Sara Quinney, Barbara Sternfeld, Bette J. Caan, Jeffrey A. Meyerhardt, Kathryn H. Schmitz Jul 2024

Effect Of Resistance Training On Physical Function During Chemotherapy In Colon Cancer, Justin C. Brown, Shengping Yang, Stephanie L.E. Compton, Kristin L. Campbell, Elizabeth M. Cespedes Feliciano, Sara Quinney, Barbara Sternfeld, Bette J. Caan, Jeffrey A. Meyerhardt, Kathryn H. Schmitz

School of Medicine Faculty Publications

Background: The decline of physical function during chemotherapy predicts poor quality of life and premature death. It is unknown if resistance training prevents physical function decline during chemotherapy in colon cancer survivors. Methods: This multicenter trial randomly assigned 181 colon cancer survivors receiving postoperative chemotherapy to home-based resistance training or usual care control. Physical function outcomes included the short physical performance battery, isometric handgrip strength, and the physical function subscale of the Medical Outcomes Short-Form 36-item questionnaire. Mixed models for repeated measures quantified estimated treatment differences. Results: At baseline, participants had a mean (SD) age of 55.2 (12.8) years; 67 …


Mutant Androgen Receptor Induces Neurite Loss And Senescence Independently Of Are Binding In A Neuronal Model Of Sbma, Jordyn Karliner, Y Liu, Diane Merry Jul 2024

Mutant Androgen Receptor Induces Neurite Loss And Senescence Independently Of Are Binding In A Neuronal Model Of Sbma, Jordyn Karliner, Y Liu, Diane Merry

Department of Biochemistry and Molecular Biology Faculty Papers

Spinal and bulbar muscular atrophy (SBMA) is a slowly progressing neuromuscular disease caused by a polyglutamine (polyQ)-encoding CAG trinucleotide repeat expansion in the androgen receptor (AR) gene, leading to AR aggregation, lower motor neuron death, and muscle atrophy. AR is a ligand-activated transcription factor that regulates neuronal architecture and promotes axon regeneration; however, whether AR transcriptional functions contribute to disease pathogenesis is not fully understood. Using a differentiated PC12 cell model of SBMA, we identified dysfunction of polyQ-expanded AR in its regulation of neurite growth and maintenance. Specifically, we found that in the presence of androgens, polyQ-expanded AR inhibited neurite …


Extracellular Vesicles, Circadian Rhythms, And Cancer: A Comprehensive Review With Emphasis On Hepatocellular Carcinoma, Baharan Fekry, Lierni Ugartemendia, Nestor F Esnaola, Laura Goetzl Jul 2024

Extracellular Vesicles, Circadian Rhythms, And Cancer: A Comprehensive Review With Emphasis On Hepatocellular Carcinoma, Baharan Fekry, Lierni Ugartemendia, Nestor F Esnaola, Laura Goetzl

Faculty, Staff and Student Publications

This review comprehensively explores the complex interplay between extracellular vesicles (ECVs)/exosomes and circadian rhythms, with a focus on the role of this interaction in hepatocellular carcinoma (HCC). Exosomes are nanovesicles derived from cells that facilitate intercellular communication by transporting bioactive molecules such as proteins, lipids, and RNA/DNA species. ECVs are implicated in a range of diseases, where they play crucial roles in signaling between cells and their surrounding environment. In the setting of cancer, ECVs are known to influence cancer initiation and progression. The scope of this review extends to all cancer types, synthesizing existing knowledge on the various roles …


Enhancing The Carbon Monoxide Oxidation Performance Through Surface Defect Enrichment Of Ceria-Based Supports For Platinum Catalyst, Shaohua Xie, Yue Lu, Kailong Ye, Wei Tan, Sufeng Cao, Chunying Wang, Daekun Kim, Xing Zhang, Jeremia Loukusa, Yaobin Li, Yan Zhang, Lu Ma, Steven N Ehrlich, Nebojsa S Marinkovic, Jiguang Deng, Maria Flytzani-Stephanopoulos, Fudong Liu Jul 2024

Enhancing The Carbon Monoxide Oxidation Performance Through Surface Defect Enrichment Of Ceria-Based Supports For Platinum Catalyst, Shaohua Xie, Yue Lu, Kailong Ye, Wei Tan, Sufeng Cao, Chunying Wang, Daekun Kim, Xing Zhang, Jeremia Loukusa, Yaobin Li, Yan Zhang, Lu Ma, Steven N Ehrlich, Nebojsa S Marinkovic, Jiguang Deng, Maria Flytzani-Stephanopoulos, Fudong Liu

Faculty, Staff and Student Publications

Effective synthesis and application of single-atom catalysts on supports lacking enough defects remain a significant challenge in environmental catalysis. Herein, we present a universal defect-enrichment strategy to increase the surface defects of CeO2-based supports through H2 reduction pretreatment. The Pt catalysts supported by defective CeO2-based supports, including CeO2, CeZrOx, and CeO2/Al2O3 (CA), exhibit much higher Pt dispersion and CO oxidation activity upon reduction activation compared to their counterpart catalysts without defect enrichment. Specifically, Pt is present as embedded single atoms on the CA support with enriched surface defects (CA-HD) based on which the highly active catalyst showing embedded …


Biophysics Of Protein-Lipid Interactions, Paula A Bender, Vasanthi Jayaraman Jul 2024

Biophysics Of Protein-Lipid Interactions, Paula A Bender, Vasanthi Jayaraman

Faculty, Staff and Student Publications

The biological phenomenon of protein-lipid interactions in cell membranes underlies the diversity of peripheral membrane protein function and physical properties of the membrane. To summarize novel findings in the field, this research highlight focuses on recent publications in Biophysical Journal.


Energy Drinks, Shots, And Pre-Workout Supplements: A Brief Review, Jason M. Curtis, Jose Antonio Jul 2024

Energy Drinks, Shots, And Pre-Workout Supplements: A Brief Review, Jason M. Curtis, Jose Antonio

Journal for Sports Neuroscience

Abstract

Introduction: There are many purported benefits, both physically and mentally, to consuming energy drinks, energy shots, and multi-ingredient pre-workout supplements 1.

Methods: This current review, we used studies that investigated the benefits of ED, ES, and MIPS products. We looked for studies that reported the effects of these products, both physical and/or mental.

Review Findings: Current literature on these products suggests that the consumption of these ergogenic aids may increase power, force production, anaerobic production, muscular endurance, and endurance performance in athletes as well as improvement in many indices of mental performance 2,15.

Practical …


The Role Of Sexual Network Core Groups In Disease Epidemics, Jason Janeaux Jul 2024

The Role Of Sexual Network Core Groups In Disease Epidemics, Jason Janeaux

LSU Doctoral Dissertations

Sexually transmitted infections (STIs) remain an economic and social burden, non-discriminately affecting sexually active individuals worldwide. The unique transmission of STIs is dependent upon host and pathogen life histories, as well as the underlying network structure of the host population. Within a population there is a group of individuals, the core group, that maintains STI presence and helps sustain ongoing transmission both within the core group and in the surrounding population. While the presence of these core groups is well documented, the criteria for inclusion into a sexual core group is not. In this dissertation, I explore common factors that …


Antitumor Activity Of A Pyrrolobenzodiazepine Antibody-Drug Conjugate Targeting Lgr5 In Preclinical Models Of Neuroblastoma, Jianghua Tu, Yukimatsu Toh, Adela M Aldana, Jake J Wen, Ling Wu, Joan Jacob, Li Li, Sheng Pan, Kendra S Carmon, Qingyun J Liu Jul 2024

Antitumor Activity Of A Pyrrolobenzodiazepine Antibody-Drug Conjugate Targeting Lgr5 In Preclinical Models Of Neuroblastoma, Jianghua Tu, Yukimatsu Toh, Adela M Aldana, Jake J Wen, Ling Wu, Joan Jacob, Li Li, Sheng Pan, Kendra S Carmon, Qingyun J Liu

Faculty, Staff and Student Publications

Neuroblastoma (NB) is a cancer of the peripheral nervous system found in children under 15 years of age. It is the most frequently diagnosed cancer during infancy, accounting for ~12% of all cancer-related deaths in children. Leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5) is a membrane receptor that is associated with the primary tumor formation and metastasis of cancers in the gastrointestinal system. Remarkably, high levels of LGR5 are found in NB tumor cells, and high LGR5 expression is strongly correlated with poor survival. Antibody-drug conjugates (ADCs) are monoclonal antibodies that are covalently linked to cell-killing cytotoxins to deliver the payloads …


Trps1 Expression Is Frequently Seen In A Subset Of Cutaneous Mesenchymal Neoplasms And Tumors Of Uncertain Differentiation: A Potential Diagnostic Pitfall, Moon Joo Kim, Yi A Liu, Yunyi Wang, Jing Ning, Woo Cheal Cho Jul 2024

Trps1 Expression Is Frequently Seen In A Subset Of Cutaneous Mesenchymal Neoplasms And Tumors Of Uncertain Differentiation: A Potential Diagnostic Pitfall, Moon Joo Kim, Yi A Liu, Yunyi Wang, Jing Ning, Woo Cheal Cho

Faculty, Staff and Student Publications

Although extensively studied in cutaneous epithelial neoplasms, the TRPS1 immunoreactivity in cutaneous mesenchymal neoplasms and tumors of uncertain differentiation (CMNTUDs), such as atypical fibroxanthoma (AFX), remains largely unexplored. We assessed TRPS1 immunoreactivity in 135 CMNTUDs, comprising 46 fibrohistiocytic/fibroblastic tumors, 28 vascular tumors, 24 peripheral nerve sheath tumors (PNSTs), 21 tumors of uncertain differentiation, and 16 smooth muscle tumors. Additionally, we included selected cases of melanoma with spindled cell morphology or desmoplastic features (n = 9) and sarcomatoid squamous cell carcinoma (SSCC) (n = 5) to compare TRPS1 expression patterns with those of AFX. TRPS1 expression was prevalent in dermatofibromas (24/24), …


Nrg Oncology And Particle Therapy Co-Operative Group Patterns Of Practice Survey And Consensus Recommendations On Pencil-Beam Scanning Proton Stereotactic Body Radiation Therapy And Hypofractionated Radiation Therapy For Thoracic Malignancies, Wei Liu, Hongying Feng, Paige A Taylor, Minglei Kang, Jiajian Shen, Jatinder Saini, Jun Zhou, Huan B Giap, Nathan Y Yu, Terence S Sio, Pranshu Mohindra, Joe Y Chang, Jeffrey D Bradley, Ying Xiao, Charles B Simone, Liyong Lin Jul 2024

Nrg Oncology And Particle Therapy Co-Operative Group Patterns Of Practice Survey And Consensus Recommendations On Pencil-Beam Scanning Proton Stereotactic Body Radiation Therapy And Hypofractionated Radiation Therapy For Thoracic Malignancies, Wei Liu, Hongying Feng, Paige A Taylor, Minglei Kang, Jiajian Shen, Jatinder Saini, Jun Zhou, Huan B Giap, Nathan Y Yu, Terence S Sio, Pranshu Mohindra, Joe Y Chang, Jeffrey D Bradley, Ying Xiao, Charles B Simone, Liyong Lin

Faculty, Staff and Student Publications

Stereotactic body radiation therapy (SBRT) and hypofractionation using pencil-beam scanning (PBS) proton therapy (PBSPT) is an attractive option for thoracic malignancies. Combining the advantages of target coverage conformity and critical organ sparing from both PBSPT and SBRT, this new delivery technique has great potential to improve the therapeutic ratio, particularly for tumors near critical organs. Safe and effective implementation of PBSPT SBRT/hypofractionation to treat thoracic malignancies is more challenging than the conventionally fractionated PBSPT because of concerns of amplified uncertainties at the larger dose per fraction. The NRG Oncology and Particle Therapy Cooperative Group Thoracic Subcommittee surveyed proton centers in …


Clinical And Genomic Landscape Of Ras Mutations In Gynecologic Cancers, Ji Son, Yingao Zhang, Heather Lin, Oriol Mirallas, Pablo Alvarez Ballesteros, Mirella Nardo, Natalie Clark, R Tyler Hillman, Erick Campbell, Vijaykumar Holla, Amber M Johnson, Amadeo B Biter, Ying Yuan, Lauren P Cobb, David M Gershenson, Amir A Jazaeri, Karen H Lu, Pamela T Soliman, Shannon N Westin, Elizabeth D Euscher, Barrett C Lawson, Richard K Yang, Funda Meric-Bernstam, David S Hong Jul 2024

Clinical And Genomic Landscape Of Ras Mutations In Gynecologic Cancers, Ji Son, Yingao Zhang, Heather Lin, Oriol Mirallas, Pablo Alvarez Ballesteros, Mirella Nardo, Natalie Clark, R Tyler Hillman, Erick Campbell, Vijaykumar Holla, Amber M Johnson, Amadeo B Biter, Ying Yuan, Lauren P Cobb, David M Gershenson, Amir A Jazaeri, Karen H Lu, Pamela T Soliman, Shannon N Westin, Elizabeth D Euscher, Barrett C Lawson, Richard K Yang, Funda Meric-Bernstam, David S Hong

Faculty, Staff and Student Publications

Purpose: We aimed to describe RAS mutations in gynecologic cancers as they relate to clinicopathologic and genomic features, survival, and therapeutic implications.

Experimental design: Gynecologic cancers with available somatic molecular profiling data at our institution between February 2010 and August 2022 were included and grouped by RAS mutation status. Overall survival was estimated by the Kaplan-Meier method, and multivariable analysis was performed using the Cox proportional hazard model.

Results: Of 3,328 gynecologic cancers, 523 (15.7%) showed any RAS mutation. Patients with RAS-mutated tumors were younger (57 vs. 60 years nonmutated), had a higher prevalence of endometriosis (27.3% vs. 16.9%), and …


Intratumoral Microbiome Of Adenoid Cystic Carcinomas And Comparison With Other Head And Neck Cancers, Tatiana V Karpinets, Yoshitsugu Mitani, Chia-Chi Chang, Xiaogang Wu, Xingzhi Song, Ivonne I Flores, Lauren K Mcdaniel, Yasmine M Hoballah, Fabiana J Veguilla, Renata Ferrarotto, Lauren E Colbert, Nadim J Ajami, Robert R Jenq, Jianhua Zhang, Andrew P Futreal, Adel K El-Naggar Jul 2024

Intratumoral Microbiome Of Adenoid Cystic Carcinomas And Comparison With Other Head And Neck Cancers, Tatiana V Karpinets, Yoshitsugu Mitani, Chia-Chi Chang, Xiaogang Wu, Xingzhi Song, Ivonne I Flores, Lauren K Mcdaniel, Yasmine M Hoballah, Fabiana J Veguilla, Renata Ferrarotto, Lauren E Colbert, Nadim J Ajami, Robert R Jenq, Jianhua Zhang, Andrew P Futreal, Adel K El-Naggar

Faculty, Staff and Student Publications

Adenoid cystic carcinoma (ACC) is a rare, usually slow-growing yet aggressive head and neck malignancy. Despite its clinical significance, our understanding of the cellular evolution and microenvironment in ACC remains limited. We investigated the intratumoral microbiomes of 50 ACC tumor tissues and 33 adjacent normal tissues using 16S rRNA gene sequencing. This allowed us to characterize the bacterial communities within the ACC and explore potential associations between the bacterial community structure, patient clinical characteristics, and tumor molecular features obtained through RNA sequencing. The bacterial composition in the ACC was significantly different from that in adjacent normal salivary tissue, and the …


Author Correction: Brafv600e-Mutant Metastatic Nsclc: Disease Overview And Treatment Landscape, David Planchard, Rachel E Sanborn, Marcelo V Negrao, Aria Vaishnavi, Egbert F Smit Jul 2024

Author Correction: Brafv600e-Mutant Metastatic Nsclc: Disease Overview And Treatment Landscape, David Planchard, Rachel E Sanborn, Marcelo V Negrao, Aria Vaishnavi, Egbert F Smit

Faculty, Staff and Student Publications

No abstract provided.


Systemic Interindividual Dna Methylation Variants In Cattle Share Major Hallmarks With Those In Humans, Wen-Jou Chang, Maria S Baker, Eleonora Laritsky, Chathura J Gunasekara, Uditha Maduranga, Justine C Galliou, Joseph W Mcfadden, Jessica R Waltemyer, Bruce Berggren-Thomas, Brianna N Tate, Hanxue Zhang, Benjamin D Rosen, Curtis P Van Tassell, George E Liu, Cristian Coarfa, Yi Athena Ren, Robert A Waterland Jul 2024

Systemic Interindividual Dna Methylation Variants In Cattle Share Major Hallmarks With Those In Humans, Wen-Jou Chang, Maria S Baker, Eleonora Laritsky, Chathura J Gunasekara, Uditha Maduranga, Justine C Galliou, Joseph W Mcfadden, Jessica R Waltemyer, Bruce Berggren-Thomas, Brianna N Tate, Hanxue Zhang, Benjamin D Rosen, Curtis P Van Tassell, George E Liu, Cristian Coarfa, Yi Athena Ren, Robert A Waterland

Faculty, Staff and Students Publications

BACKGROUND: We recently identified ~ 10,000 correlated regions of systemic interindividual epigenetic variation (CoRSIVs) in the human genome. These methylation variants are amenable to population studies, as DNA methylation measurements in blood provide information on epigenetic regulation throughout the body. Moreover, establishment of DNA methylation at human CoRSIVs is labile to periconceptional influences such as nutrition. Here, we analyze publicly available whole-genome bisulfite sequencing data on multiple tissues of each of two Holstein cows to determine whether CoRSIVs exist in cattle.

RESULTS: Focusing on genomic blocks with ≥ 5 CpGs and a systemic interindividual variation index of at least 20, …


Transcriptomic Analysis Reveals The Anti-Cancer Effect Of Gestational Mesenchymal Stem Cell Secretome, Salvatore Vaiasicca, Gianmarco Melone, David W James, Marcos Quintela, Jing Xiao, Seydou Yao, Richard H Finnell, Robert S Conlan, Lewis W Francis, Bruna Corradetti Jul 2024

Transcriptomic Analysis Reveals The Anti-Cancer Effect Of Gestational Mesenchymal Stem Cell Secretome, Salvatore Vaiasicca, Gianmarco Melone, David W James, Marcos Quintela, Jing Xiao, Seydou Yao, Richard H Finnell, Robert S Conlan, Lewis W Francis, Bruna Corradetti

Faculty, Staff and Students Publications

The environment created during embryogenesis contributes to reducing aberrations that drive structural malformations and tumorigenesis. In this study, we investigate the anti-cancer effect of mesenchymal stem cells (MSCs) derived from 2 different gestational tissues, the amniotic fluid (AF) and the chorionic villi (CV), with emphasis on their secretome. Transcriptomic analysis was performed on patient-derived AF- and CV-MSCs collected during prenatal diagnosis and identified both mRNAs and lncRNAs, involved in tissue homeostasis and inhibiting biological processes associated with the etiology of aggressive cancers while regulating immune pathways shown to be important in chronic disorders. Secretome enrichment analysis also identified soluble moieties …


Single-Cell Total-Rna Profiling Unveils Regulatory Hubs Of Transcription Factors, Yichi Niu, Jiayi Luo, Chenghang Zong Jul 2024

Single-Cell Total-Rna Profiling Unveils Regulatory Hubs Of Transcription Factors, Yichi Niu, Jiayi Luo, Chenghang Zong

Faculty, Staff and Students Publications

Recent development of RNA velocity uses master equations to establish the kinetics of the life cycle of RNAs from unspliced RNA to spliced RNA (i.e., mature RNA) to degradation. To feed this kinetic analysis, simultaneous measurement of unspliced RNA and spliced RNA in single cells is greatly desired. However, the majority of single-cell RNA-seq chemistry primarily captures mature RNA species to measure gene expressions. Here, we develop a one-step total-RNA chemistry-based single-cell RNA-seq method: snapTotal-seq. We benchmark this method with multiple single-cell RNA-seq assays in their performance in kinetic analysis of cell cycle by RNA velocity. Next, with LASSO regression …


Set-Based Tests For Genetic Association Studies With Interval-Censored Competing Risks Outcomes, Zhichao Xu, Jaihee Choi, Ryan Sun Jul 2024

Set-Based Tests For Genetic Association Studies With Interval-Censored Competing Risks Outcomes, Zhichao Xu, Jaihee Choi, Ryan Sun

Faculty, Staff and Student Publications

Over the past decade, massive genetic compendiums such as the UK Biobank have gathered extensive genetic and phenotypic data that hold the potential to provide unparalleled insight into the genetic etiologies of various complex diseases. However, much of the disease information is collected as time-to-event outcomes in interval-censored form, and conventional tools for genetic association analysis are often not available for this type of data. For example, set-based inference for common and rare variants analysis is a fundamental investigation in germline genetics studies, but there is a lack of approaches that can perform set-based testing when the interval-censored outcome of …


Wearable Device Case-Study: Unveiling Physiological Stress Patterns In A Neurosurgeon Operating Multiple Surgeries, Andy Suarez, Justin Braun, Gabriel J. Sanders, Yoav Ritter, Steven Vanni, Jaime Tartar, Corey A. Peacock Jul 2024

Wearable Device Case-Study: Unveiling Physiological Stress Patterns In A Neurosurgeon Operating Multiple Surgeries, Andy Suarez, Justin Braun, Gabriel J. Sanders, Yoav Ritter, Steven Vanni, Jaime Tartar, Corey A. Peacock

Journal for Sports Neuroscience

Introduction

Utilizing a wearable device, this case study aims to measure stress at different surgical durations to bridge the gap in research regarding the physiological stress of surgery. Significant stress variations throughout the surgeries are anticipated, which will provide valuable insight into the patterns of physiological stress experienced by our neurosurgeon.

Materials and Methods

One male neurosurgeon subject (n=1; age: 48; height: 188 cm; weight: 87.3 kg) conducted 82 surgeries (2023-2024). A wearable device (Whoop 4, Boston, MA) was used to monitor maximum heart rate (MAXHR), average heart rate (AVGHR), calories (CAL), strain (STR) and surgery duration (MIN). Surgeries were …


Real-World Evidence Study On The Early Use Of Cemiplimab In The Uk: React-Cemi (Real World Evidence Of Advanced Cscc Treatment With Cemiplimab), Amarnath Challapalli, Grant Stewart, Heather Shaw, Peter John Davies, Juan Carlos Lopez-Baez, Edward C Ottley, Stephen Kelly Jul 2024

Real-World Evidence Study On The Early Use Of Cemiplimab In The Uk: React-Cemi (Real World Evidence Of Advanced Cscc Treatment With Cemiplimab), Amarnath Challapalli, Grant Stewart, Heather Shaw, Peter John Davies, Juan Carlos Lopez-Baez, Edward C Ottley, Stephen Kelly

Faculty, Staff and Student Publications

BACKGROUND: Cemiplimab was licensed in the United Kingdom (UK) in 2019 for the treatment of patients with locally advanced and metastatic CSCC not suitable for curative surgery or radiotherapy (advanced CSCC [aCSCC]). No UK multi-center studies have investigated the real-world experience of cemiplimab post marketing authorization in aCSCC.

METHODS: This non-interventional retrospective study (10 UK centers) involved data collection from medical records of patients with aCSCC who initiated cemiplimab treatment between 2 July 2019 and 30 November 2020. The study period was a minimum of 12 and a maximum of 36 months post cemiplimab initiation. The primary objective was to …


Dansyl Fluorophore Functionalized Hierarchically Structured Mesoporous Silica Nanoparticles As Novel Latent Fingerprint Development Agents, Lais F A M Oliveira, Lais V A T Da Silva, Artur F Sonsin, Meclycia S Alves, Cristiane V Costa, Jeane C S Melo, Nicholas Ross, Paul T Wady, Thomas Zinn, Ticiano G Do Nascimento, Eduardo J S Fonseca, Alexandro M L De Assis, A Robert Hillman, Adriana S Ribeiro Jul 2024

Dansyl Fluorophore Functionalized Hierarchically Structured Mesoporous Silica Nanoparticles As Novel Latent Fingerprint Development Agents, Lais F A M Oliveira, Lais V A T Da Silva, Artur F Sonsin, Meclycia S Alves, Cristiane V Costa, Jeane C S Melo, Nicholas Ross, Paul T Wady, Thomas Zinn, Ticiano G Do Nascimento, Eduardo J S Fonseca, Alexandro M L De Assis, A Robert Hillman, Adriana S Ribeiro

Faculty, Staff and Student Publications

A nanostructured hybrid material based on mesoporous silica nanoparticles (MCM-41) functionalized with chitosan and a fluorescent dye (dansylglycine), designated MCM-41@Ch@DnsGly, was synthesized and characterized with a view to its application for the visualization of latent fingerprints. These nanoparticles were applied as latent fingerprint developers for marks on surfaces of diverse chemical composition, topography, optical characteristics, and spatially variant nature, typical of forensically challenging evidence. For quality assessment of the enhanced fingermarks, the developed images were analyzed holistically using the UK Home Office scale, forensic protocols and, in terms of their constituent features (minutiae), using forensic software. Across a substantive collection …