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Articles 5881 - 5910 of 25859
Full-Text Articles in Entire DC Network
Data Normalization For Addressing The Challenges In The Analysis Of Single-Cell Transcriptomic Datasets, Raquel Cuevas-Diaz Duran, Haichao Wei, Jiaqian Wu
Data Normalization For Addressing The Challenges In The Analysis Of Single-Cell Transcriptomic Datasets, Raquel Cuevas-Diaz Duran, Haichao Wei, Jiaqian Wu
Faculty, Staff and Student Publications
BACKGROUND: Normalization is a critical step in the analysis of single-cell RNA-sequencing (scRNA-seq) datasets. Its main goal is to make gene counts comparable within and between cells. To do so, normalization methods must account for technical and biological variability. Numerous normalization methods have been developed addressing different sources of dispersion and making specific assumptions about the count data.
MAIN BODY: The selection of a normalization method has a direct impact on downstream analysis, for example differential gene expression and cluster identification. Thus, the objective of this review is to guide the reader in making an informed decision on the most …
Hormonal Basis Of Brain Fog In Cancer Treatment, Yuan Pan, Jian Hu
Hormonal Basis Of Brain Fog In Cancer Treatment, Yuan Pan, Jian Hu
Faculty, Staff and Student Publications
The cognitive side effects of cancer treatment are common, but no targeted therapy exists yet to treat or prevent such neurological sequelae. We explore the role of hormones as mediators between cancer therapy and cognitive impairment, discussing potential future directions.
Contraception And Menstrual Management In Transmasculine And Gender-Diverse Individuals, Adrian Chiem, Maria Cristina Marcos, Beth I. Schwartz
Contraception And Menstrual Management In Transmasculine And Gender-Diverse Individuals, Adrian Chiem, Maria Cristina Marcos, Beth I. Schwartz
Department of Obstetrics and Gynecology Faculty Papers
Purpose of Review This review outlines the current evidence on the contraceptive and menstrual management methods that are used for transmasculine or gender-diverse (TGD) individuals, as well as the gaps in the literature for this population.
Recent Findings Contraception and menstrual management continue to be an understudied area in the care of TGD individuals, with much of existing research extrapolated from cisgender populations. Emerging studies have looked at contraceptive and menstrual management choices and outcomes in adolescents and highlight the 52 mg LNG-IUD as an option that is efficacious for both indications, as well as high-dose progestin-only pills for menstrual …
Ras G-Domains Allosterically Contribute To The Recognition Of Lipid Headgroups And Acyl Chains, Neha Arora, Huanwen Mu, Hong Liang, Wenting Zhao, Yong Zhou
Ras G-Domains Allosterically Contribute To The Recognition Of Lipid Headgroups And Acyl Chains, Neha Arora, Huanwen Mu, Hong Liang, Wenting Zhao, Yong Zhou
Faculty, Staff and Student Publications
Mutant RAS are major contributors to cancer and signal primarily from nanoclusters on the plasma membrane (PM). Their C-terminal membrane anchors are main features of membrane association. However, the same RAS isoform bound to different guanine nucleotides spatially segregate. Different RAS nanoclusters all enrich a phospholipid, phosphatidylserine (PS). These findings suggest more complex membrane interactions. Our electron microscopy-spatial analysis shows that wild-types, G12V mutants, and membrane anchors of isoforms HRAS, KRAS4A, and KRAS4B prefer distinct PS species. Mechanistically, reorientation of KRAS4B G-domain exposes distinct residues, such as Arg 135 in orientation state 1 (OS1) and Arg 73/Arg 102 in OS2, …
Metaplastic Regeneration In The Mouse Stomach Requires A Reactive Oxygen Species Pathway, Zhi-Feng Miao, Jing-Xu Sun, Xuan-Zhang Huang, Shi Bai, Min-Jiao Pang, Jia-Yi Li, Han-Yu Chen, Qi-Yue Tong, Shi-Yu Ye, Xin-Yu Wang, Xiao-Hai Hu, Jing-Ying Li, Jin-Wei Zou, Wen Xu, Jun-Hao Yang, Xi Lu, Jason C Mills, Zhen-Ning Wang
Metaplastic Regeneration In The Mouse Stomach Requires A Reactive Oxygen Species Pathway, Zhi-Feng Miao, Jing-Xu Sun, Xuan-Zhang Huang, Shi Bai, Min-Jiao Pang, Jia-Yi Li, Han-Yu Chen, Qi-Yue Tong, Shi-Yu Ye, Xin-Yu Wang, Xiao-Hai Hu, Jing-Ying Li, Jin-Wei Zou, Wen Xu, Jun-Hao Yang, Xi Lu, Jason C Mills, Zhen-Ning Wang
Faculty, Staff and Students Publications
In pyloric metaplasia, mature gastric chief cells reprogram via an evolutionarily conserved process termed paligenosis to re-enter the cell cycle and become spasmolytic polypeptide-expressing metaplasia (SPEM) cells. Here, we use single-cell RNA sequencing (scRNA-seq) following injury to the murine stomach to analyze mechanisms governing paligenosis at high resolution. Injury causes induced reactive oxygen species (ROS) with coordinated changes in mitochondrial activity and cellular metabolism, requiring the transcriptional mitochondrial regulator Ppargc1a (Pgc1α) and ROS regulator Nf2el2 (Nrf2). Loss of the ROS and mitochondrial control in Ppargc1a-/- mice causes the death of paligenotic cells through ferroptosis. Blocking the cystine transporter SLC7A11(xCT), which …
Efficacy Of Intravesical Nadofaragene Firadenovec For Patients With Bacillus Calmette-Guérin-Unresponsive Nonmuscle-Invasive Bladder Cancer: 5-Year Follow-Up From A Phase 3 Trial, Vikram M. Narayan, Stephen A. Boorjian, Mehrdad Alemozaffar, Badrinath R. Konety, Neal D. Shore, Leonard G. Gomella, Ashish M. Kamat, Trinity J. Bivalacqua, Jeffrey S. Montgomery, Seth P. Lerner, Joseph E. Busby, Michael Poch, Paul L. Crispen, Gary D. Steinberg, Anne K. Schuckman, Tracy M. Downs, Joseph Mashni, Brian R. Lane, Thomas J. Guzzo, Gennady Bratslavsky, Lawrence I. Karsh, Michael E. Woods, Gordon Brown, Daniel Canter, Adam Luchey, Yair Lotan, Brant A. Inman, Michael B. Williams, Michael S. Cookson, Sam S. Chang, Alexander I. Sankin, Michael A. O'Donnell, David Sawutz, Richard Philipson, Nigel R. Parker, Seppo Yla-Herttuala, Dorte Rehm, Jørn S. Jakobsen, Kristian Juul, Colin P.N. Dinney
Efficacy Of Intravesical Nadofaragene Firadenovec For Patients With Bacillus Calmette-Guérin-Unresponsive Nonmuscle-Invasive Bladder Cancer: 5-Year Follow-Up From A Phase 3 Trial, Vikram M. Narayan, Stephen A. Boorjian, Mehrdad Alemozaffar, Badrinath R. Konety, Neal D. Shore, Leonard G. Gomella, Ashish M. Kamat, Trinity J. Bivalacqua, Jeffrey S. Montgomery, Seth P. Lerner, Joseph E. Busby, Michael Poch, Paul L. Crispen, Gary D. Steinberg, Anne K. Schuckman, Tracy M. Downs, Joseph Mashni, Brian R. Lane, Thomas J. Guzzo, Gennady Bratslavsky, Lawrence I. Karsh, Michael E. Woods, Gordon Brown, Daniel Canter, Adam Luchey, Yair Lotan, Brant A. Inman, Michael B. Williams, Michael S. Cookson, Sam S. Chang, Alexander I. Sankin, Michael A. O'Donnell, David Sawutz, Richard Philipson, Nigel R. Parker, Seppo Yla-Herttuala, Dorte Rehm, Jørn S. Jakobsen, Kristian Juul, Colin P.N. Dinney
Department of Urology Faculty Papers
Purpose: Nadofaragene firadenovec-vncg is a nonreplicating adenoviral vector–based gene therapy for bacillus Calmette-Guérin (BCG)–unresponsive carcinoma in situ (CIS) with/without high-grade Ta/T1. We report outcomes following 5 years of planned follow-up.
Materials and Methods: This open-label phase 3 trial (NCT02773849) enrolled patients with BCG-unresponsive nonmuscle-invasive bladder cancer in 2 cohorts: CIS ± Ta/T1 (CIS; n = 107) and Ta/T1 without CIS (Ta/T1 cohort; n = 50). Patients received 75 mL (3 × 1011 vp/mL) nadofaragene firadenovec intravesically once every 3 months with cystoscopy and cytology assessments, with continued treatment offered to those remaining high grade recurrence–free (HGRF).
Results: One hundred fifty-seven …
Bronchopulmonary Dysplasia: Pathophysiology And The Effects Of The Microbiome, Anjali Jacob
Bronchopulmonary Dysplasia: Pathophysiology And The Effects Of The Microbiome, Anjali Jacob
Senior Honors Theses
Bronchopulmonary dysplasia (BPD) is a chronic neonatal lung disease that occurs in over 50% of premature infants. BPD is characterized by damage to the alveoli and bronchioles and improper vasculature formation. It is primarily caused by overexposure to oxygen through mechanical ventilation, but there are other risk factors that make infants more susceptible to BPD. Microbial composition impacts risk for developing BPD, and research is ongoing about the effects of the microbiome on BPD pathogenesis; this information is also valuable for preventative treatment. This paper reviews the normal function of the lungs, pathogenesis of BPD and how it affects normal …
Mortality In Medicine, Maren Dougherty
Mortality In Medicine, Maren Dougherty
Honors Projects
Practitioners in the medical field attend to health issues across one’s lifespan from birth to death and everything in between. A common conflict in today’s practice of medicine is establishing the true function of medicine. The complete reliance on medicine to ward off death proliferates the biomedicalization of natural life processes, like death. Biomedicalization is the process in which medical authority and its accompanying technology begin to control other aspects of daily life. With medicine’s ultimate goal being to cure disease and fight death, it interferes with the inevitability of human mortality. End-of-life treatment can be taken too far without …
Development, Validation, And Diagnostic Performance Of A Novel Radiomic Model For Predicting Prostate Cancer Recurrence, Linda M. Huynh
Development, Validation, And Diagnostic Performance Of A Novel Radiomic Model For Predicting Prostate Cancer Recurrence, Linda M. Huynh
Theses & Dissertations
Multi-parametric magnetic resonance imaging (MP-MRI)-derived radiomics have been shown to capture sub-visual patterns for the quantitative characterization of prostate cancer (PC) phenotypes. The present dissertation seeks to develop, evaluate, and compare the performance of an MRI-derived radiomic model for the prediction of PC recurrence following definitive treatment with radical prostatectomy (RP).
MP-MRI was obtained from 339 patients who had a minimum of 2 years follow-up following RP at three institutions. The prostate was manually delineated as the region of interest and 924 radiomic features were extracted. All features were evaluated for stability via intraclass correlation coefficient (ICC) and image normalization …
Phase 0 Feasibility And Design Of Mobile Health Applications For Use In Rural Settings, Aubree C. Honcoop
Phase 0 Feasibility And Design Of Mobile Health Applications For Use In Rural Settings, Aubree C. Honcoop
Theses & Dissertations
Background. Mobile Health (mHealth) interventions, when meant to serve as decision support, require an in-depth investigation of current workflows and decisional needs to ensure future usability and acceptability. Rural groups were prioritized due to their limited healthcare access, and therefore, their increased need for interventions like mHealth apps that address health disparities.
Objective. To assess the decisional needs of parents/caregivers and/or Healthcare Providers (HCPs) in rural areas regarding emergencies with children with medical complexity (CMC, Project 1), COVID-19 vaccination (Project 2), and HPV and COVID-19 vaccination (Project 3).
Methods. Parents and HCPs were approached through various methods for participation, primarily …
Impact Of Nutritional Status And Placental Malaria Infection On Pregnancy Outcome In A Population Of Nigerian Maternal-Infant Dyads, Shirley F. Delair
Impact Of Nutritional Status And Placental Malaria Infection On Pregnancy Outcome In A Population Of Nigerian Maternal-Infant Dyads, Shirley F. Delair
Theses & Dissertations
Nigeria is the most populous country in Africa and accounts for one-quarter of the newborn mortality on the continent. Most newborn deaths are from prematurity (33%), infections (33%), and intrapartum complications (31%). Using an adapted analytical framework for the study of child survival in developing countries, this dissertation aimed to look at the pregnancy outcome of a population of Nigerian women and their offspring by looking at proximate determinants of health from nutritional status and environmental conditions. In Chapter 1, we characterized the micronutrients of the mother-infant dyads, looking specifically at concentrations of vitamin D and its metabolites. In Chapter …
Cognitive Control In Health And Disease: A Dynamic Approach To Mapping Oscillatory Activity Across The Lifespan, Mikki Schantell
Cognitive Control In Health And Disease: A Dynamic Approach To Mapping Oscillatory Activity Across The Lifespan, Mikki Schantell
Theses & Dissertations
Cognitive control is critical for flexibly adapting goal-directed behaviors to meet the demands of dynamically changing environments. The neural oscillatory dynamics serving cognitive control undergo changes across the lifespan, both in health and disease, with impairments in cognitive control functions being broadly implicated across a multitude of psychiatric disorders. Despite this, the trajectory of the population-level neural oscillatory dynamics supporting cognitive control across the lifespan remain poorly characterized, presenting challenges in fully understanding perturbations to these systems relative to one’s stage in neuronal maturation. Herein, we used the Eriksen flanker task during magnetoencephalographic (MEG) recording to map the neural oscillatory …
Cis-Regulatory Mechanisms Through Stages Of Erythroid Regenration, Yichao Zhou
Cis-Regulatory Mechanisms Through Stages Of Erythroid Regenration, Yichao Zhou
Theses & Dissertations
Produced by steady state erythropoiesis, erythrocytes serve as vital regulators of metabolism and life by delivering oxygen to all the cells and tissues. Under acute anemia, steady state erythropoiesis is not sufficient to produce enough erythrocytes, leading to distinct mechanisms needed to regenerate large numbers of mature erythrocytes rapidly. Erythroid regeneration occurs in four stages: activation, expansion and differentiation, resolution, and post-resolution, according to the dynamics of erythrocyte numbers and progenitor activity. Erythroid regeneration throughout this timeline requires some critical extracellular cues, but the intrinsic molecular mechanisms needed to accelerate and decelerate the activity of erythroid progenitors in anemia and …
Assessment Of In-Vitro And In-Vivo Pre-Clinical Pharmacokinetics Of Epz015666; A Novel Small Molecule For Medulloblastoma Treatment, Pratiksha U. Kshirsagar
Assessment Of In-Vitro And In-Vivo Pre-Clinical Pharmacokinetics Of Epz015666; A Novel Small Molecule For Medulloblastoma Treatment, Pratiksha U. Kshirsagar
Theses & Dissertations
Group 3 medulloblastoma (MB) has the worst prognosis of the MB subgroups associated with elevated MYC expression and a 5-year survival rate of
Quantitation of EPZ was performed on a Shimadzu LC-MS/MS system utilizing electrospray ionization operated in positive mode. The validated assay was linear from 0.2 to 500 ng/mL. Metabolic stability studies demonstrated slow intrinsic clearance of EPZ in mouse and human liver microsomes, suggesting no CYP-mediated metabolism. Additionally, EPZ exhibited low binding affinity to plasma and brain proteins and high apparent permeability across artificial membranes, indicating efficient membrane penetration. Drug transporter studies identified EPZ as a substrate of …
The Tensegrity Curriculum: A Comprehensive Curricular Structure Supporting Cultural Humility In Undergraduate Medical Education., Anne C Jones, Kristin N Bertsch, Deborah Williams, Millicent King Channell
The Tensegrity Curriculum: A Comprehensive Curricular Structure Supporting Cultural Humility In Undergraduate Medical Education., Anne C Jones, Kristin N Bertsch, Deborah Williams, Millicent King Channell
Rowan-Virtua School of Osteopathic Medicine Departmental Research
Due to growing health disparities in underserved communities, a comprehensive approach is needed to train physicians to work effectively with patients who have cultures and belief systems different from their own. To address these complex healthcare inequities, Rowan-Virtua SOM implemented a new curriculum, The Tensegrity Curriculum, designed to expand beyond just teaching skills of cultural competence to include trainees' exploration of cultural humility. The hypothesis is that this component of the curriculum will mitigate health inequity by training physicians to recognize and interrupt the bias within themselves and within systems. Early outcomes of this curricular renewal process reveal increased student …
Focal Adhesion Kinase-Yap Signaling Axis Drives Drug-Tolerant Persister Cells And Residual Disease In Lung Cancer, Franziska Haderk, Yu-Ting Chou, Lauren Cech, Celia Fernández-Méndez, Johnny Yu, Victor Olivas, Ismail M Meraz, Dora Barbosa Rabago, D Lucas Kerr, Carlos Gomez, David V Allegakoen, Juan Guan, Khyati N Shah, Kari A Herrington, Oghenekevwe M Gbenedio, Shigeki Nanjo, Mourad Majidi, Whitney Tamaki, Yashar K Pourmoghadam, Julia K Rotow, Caroline E Mccoach, Jonathan W Riess, J Silvio Gutkind, Tracy T Tang, Leonard Post, Bo Huang, Pilar Santisteban, Hani Goodarzi, Sourav Bandyopadhyay, Calvin J Kuo, Jeroen P Roose, Wei Wu, Collin M Blakely, Jack A Roth, Trever G Bivona
Focal Adhesion Kinase-Yap Signaling Axis Drives Drug-Tolerant Persister Cells And Residual Disease In Lung Cancer, Franziska Haderk, Yu-Ting Chou, Lauren Cech, Celia Fernández-Méndez, Johnny Yu, Victor Olivas, Ismail M Meraz, Dora Barbosa Rabago, D Lucas Kerr, Carlos Gomez, David V Allegakoen, Juan Guan, Khyati N Shah, Kari A Herrington, Oghenekevwe M Gbenedio, Shigeki Nanjo, Mourad Majidi, Whitney Tamaki, Yashar K Pourmoghadam, Julia K Rotow, Caroline E Mccoach, Jonathan W Riess, J Silvio Gutkind, Tracy T Tang, Leonard Post, Bo Huang, Pilar Santisteban, Hani Goodarzi, Sourav Bandyopadhyay, Calvin J Kuo, Jeroen P Roose, Wei Wu, Collin M Blakely, Jack A Roth, Trever G Bivona
Faculty, Staff and Student Publications
Targeted therapy is effective in many tumor types including lung cancer, the leading cause of cancer mortality. Paradigm defining examples are targeted therapies directed against non-small cell lung cancer (NSCLC) subtypes with oncogenic alterations in EGFR, ALK and KRAS. The success of targeted therapy is limited by drug-tolerant persister cells (DTPs) which withstand and adapt to treatment and comprise the residual disease state that is typical during treatment with clinical targeted therapies. Here, we integrate studies in patient-derived and immunocompetent lung cancer models and clinical specimens obtained from patients on targeted therapy to uncover a focal adhesion kinase (FAK)-YAP signaling …
Treatment Outcomes In Patients With Metastatic Renal Cell Carcinoma With Sarcomatoid And/Or Rhabdoid Dedifferentiation After Progression On Immune Checkpoint Therapy, Andrew W Hahn, Devaki Shilpa Surasi, Paul V Viscuse, Tharakeswara K Bathala, Andrew J Wiele, Matthew T Campbell, Amado J Zurita, Amishi Y Shah, Eric Jonasch, Jianjun Gao, Sangeeta Goswami, Omar Alhalabi, Priya Rao, Kanishka Sircar, Nizar M Tannir, Pavlos Msaouel
Treatment Outcomes In Patients With Metastatic Renal Cell Carcinoma With Sarcomatoid And/Or Rhabdoid Dedifferentiation After Progression On Immune Checkpoint Therapy, Andrew W Hahn, Devaki Shilpa Surasi, Paul V Viscuse, Tharakeswara K Bathala, Andrew J Wiele, Matthew T Campbell, Amado J Zurita, Amishi Y Shah, Eric Jonasch, Jianjun Gao, Sangeeta Goswami, Omar Alhalabi, Priya Rao, Kanishka Sircar, Nizar M Tannir, Pavlos Msaouel
Faculty, Staff and Student Publications
BACKGROUND: Metastatic RCC with sarcomatoid and/or rhabdoid (S/R) dedifferentiation is an aggressive disease associated with improved response to immune checkpoint therapy (ICT). The outcomes of patients treated with VEGFR-targeted therapies (TT) following ICT progression have not been investigated.
PATIENTS AND METHODS: Retrospective review of 57 patients with sarcomatoid (S), rhabdoid (R), or sarcomatoid plus rhabdoid (S + R) dedifferentiation who received any TT after progression on ICT at an academic cancer center. Clinical endpoints of interest included time on TT, overall survival (OS) from initiation of TT, and objective response rate (ORR) by RECIST version 1.1. Multivariable models adjusted for …
Triggering Receptor Expressed On Myeloid Cells 2 (Trem2) Regulates Phagocytosis In Glioblastoma, Mekenzie M Peshoff, Pravesh Gupta, Shivangi Oberai, Rakesh Trivedi, Hiroshi Katayama, Prashanth Chakrapani, Minghao Dang, Simona Migliozzi, Joy Gumin, Divya B Kadri, Jessica K Lin, Nancy K Milam, Mark E Maynard, Brian D Vaillant, Brittany Parker-Kerrigan, Frederick F Lang, Jason T Huse, Antonio Iavarone, Linghua Wang, Karen Clise-Dwyer, Krishna P Bhat
Triggering Receptor Expressed On Myeloid Cells 2 (Trem2) Regulates Phagocytosis In Glioblastoma, Mekenzie M Peshoff, Pravesh Gupta, Shivangi Oberai, Rakesh Trivedi, Hiroshi Katayama, Prashanth Chakrapani, Minghao Dang, Simona Migliozzi, Joy Gumin, Divya B Kadri, Jessica K Lin, Nancy K Milam, Mark E Maynard, Brian D Vaillant, Brittany Parker-Kerrigan, Frederick F Lang, Jason T Huse, Antonio Iavarone, Linghua Wang, Karen Clise-Dwyer, Krishna P Bhat
Faculty, Staff and Student Publications
Background: Glioblastomas (GBMs) are central nervous system tumors that resist standard-of-care interventions and even immune checkpoint blockade. Myeloid cells in the tumor microenvironment can contribute to GBM progression; therefore, emerging immunotherapeutic approaches include reprogramming these cells to achieve desirable antitumor activity. Triggering receptor expressed on myeloid cells 2 (TREM2) is a myeloid signaling regulator that has been implicated in a variety of cancers and neurological diseases with contrasting functions, but its role in GBM immunopathology and progression is still under investigation.
Methods: Our reverse translational investigations leveraged single-cell RNA sequencing and cytometry of human gliomas to characterize TREM2 expression across …
Autologous Bone Marrow Mononuclear Cells To Treat Severe Traumatic Brain Injury In Children, Charles S Cox, David M Notrica, Jenifer Juranek, Jeffrey H Miller, Fabio Triolo, Steven Kosmach, Sean I Savitz, P David Adelson, Claudia Pedroza, Scott D Olson, Michael C Scott, Akshita Kumar, Benjamin M Aertker, Henry W Caplan, Margaret L Jackson, Brijesh S Gill, Robert A Hetz, Michael S Lavoie, Linda Ewing-Cobbs
Autologous Bone Marrow Mononuclear Cells To Treat Severe Traumatic Brain Injury In Children, Charles S Cox, David M Notrica, Jenifer Juranek, Jeffrey H Miller, Fabio Triolo, Steven Kosmach, Sean I Savitz, P David Adelson, Claudia Pedroza, Scott D Olson, Michael C Scott, Akshita Kumar, Benjamin M Aertker, Henry W Caplan, Margaret L Jackson, Brijesh S Gill, Robert A Hetz, Michael S Lavoie, Linda Ewing-Cobbs
Faculty, Staff and Student Publications
Autologous bone marrow mononuclear cells (BMMNCs) infused after severe traumatic brain injury have shown promise for treating the injury. We evaluated their impact in children, particularly their hypothesized ability to preserve the blood–brain barrier and diminish neuroinflammation, leading to structural CNS preservation with improved outcomes.
We performed a randomized, double-blind, placebo-sham-controlled Bayesian dose-escalation clinical trial at two children's hospitals in Houston, TX and Phoenix, AZ, USA (NCT01851083). Patients 5–17 years of age with severe traumatic brain injury (Glasgow Coma Scale score ≤ 8) were randomized to BMMNC or placebo (3:2). Bone marrow harvest, cell isolation and infusion were …
Risk Of Meningomyelocele Mediated By The Common 22q112 Deletion, Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer Mcevoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K Mcnamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M Mcdonald-Mcginn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson
Risk Of Meningomyelocele Mediated By The Common 22q112 Deletion, Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer Mcevoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K Mcnamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M Mcdonald-Mcginn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson
Faculty, Staff and Student Publications
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of
Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
Faculty, Staff and Students Publications
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.
Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.
We collected detailed …
Expanding Complex Morpholines Using Systematic Chemical Diversity, Sunny Ann Tang, Afton Fults, Shelton R Boyd, Nikhil Gattu, Kevin A Tran, Jiayi Fan, Kevin R Mackenzie, Timothy Palzkill, Damian W Young, Srinivas Chamakuri
Expanding Complex Morpholines Using Systematic Chemical Diversity, Sunny Ann Tang, Afton Fults, Shelton R Boyd, Nikhil Gattu, Kevin A Tran, Jiayi Fan, Kevin R Mackenzie, Timothy Palzkill, Damian W Young, Srinivas Chamakuri
Faculty, Staff and Students Publications
The morpholine heterocycle is a structural unit found in many bioactive compounds and FDA-approved drugs, but the generation of more complex C-functionalized morpholine derivatives remains considerably underexplored. Using systematic chemical diversity (SCD), a concept that guides the expansion of saturated drug-like scaffolds through regiochemical and stereochemical variation, we describe the synthesis of a collection of methyl-substituted morpholine acetic acid esters starting from enantiomerically pure amino acids and amino alcohols. In total, 24 diverse substituted morpholines were produced that vary systematically in regiochemistry and stereochemistry (relative and absolute). These diverse C-substituted morpholines can be directly applied in fragment screening or incorporated …
Antiviral Medications For Preventing Cytomegalovirus Disease In Solid Organ Transplant Recipients, Robin Wm Vernooij, Mini Michael, Maleeka Ladhani, Angela C Webster, Giovanni Fm Strippoli, Jonathan C Craig, Elisabeth M Hodson
Antiviral Medications For Preventing Cytomegalovirus Disease In Solid Organ Transplant Recipients, Robin Wm Vernooij, Mini Michael, Maleeka Ladhani, Angela C Webster, Giovanni Fm Strippoli, Jonathan C Craig, Elisabeth M Hodson
Faculty, Staff and Students Publications
Background: The risk of cytomegalovirus (CMV) infection in solid organ transplant recipients has resulted in the frequent use of prophylaxis to prevent the clinical syndrome associated with CMV infection. This is an update of a review first published in 2005 and updated in 2008 and 2013.
Objectives: To determine the benefits and harms of antiviral medications to prevent CMV disease and all-cause death in solid organ transplant recipients.
Search methods: We contacted the information specialist and searched the Cochrane Kidney and Transplant Register of Studies up to 5 February 2024 using search terms relevant to this review. Studies in the …
Interactions Between Repetitive Mild Traumatic Brain Injury And Methylphenidate Administration On Catecholamine Transporter Protein Levels Within The Rodent Prefrontal Cortex, Anna Abrimian, Eleni Papadopoulos, Christopher P. Knapp, J. Loweth, Barry Waterhouse, Rachel Navarra
Interactions Between Repetitive Mild Traumatic Brain Injury And Methylphenidate Administration On Catecholamine Transporter Protein Levels Within The Rodent Prefrontal Cortex, Anna Abrimian, Eleni Papadopoulos, Christopher P. Knapp, J. Loweth, Barry Waterhouse, Rachel Navarra
Rowan-Virtua Research Day
It is theorized that low concentrations of dopamine (DA) and norepinephrine (NE) within in the prefrontal cortex (PFC) following traumatic brain injury (TBI) leads to increased risky behavior. Our lab has shown that repeated mild TBI (rmTBI) sex-differentially increases risky behavior in a rodent model. Methylphenidate (MPH) is a psychostimulant drug used to treat symptoms of Attention-Deficit Hyperactivity Disorder (ADHD), also driven by a hypo-catecholaminergic PFC. MPH elevates catecholamine levels by blocking DA and NE transporters, DAT and NET. While the potential of psychostimulants to treat post-TBI symptoms have been explored, the effects of sub-chronic MPH on transporter levels following …
Investigating The Factors That Lead To Sports Related Injuries In Children, Kinjal Shah, Shawna Rotoli
Investigating The Factors That Lead To Sports Related Injuries In Children, Kinjal Shah, Shawna Rotoli
Rowan-Virtua Research Day
This project’s focus is to investigate if playing contact versus non-contact sports at a young age leads to more sports related injuries and to identify which factors correlate with increased injury rate in order to develop the most effective prevention and treatment methods. Data was collected through a survey including questions that delve deeper to quantify the amount of strain being put on the youth athlete’s body such as hours played a week, level of competitiveness, weeks played in a year, contact versus non-contact sport, and number of sports played. The following set of questions then addressed the actual injury …
A Systematic Review On Belimumab’S Effectiveness, Improved Health Outcomes And Quality Of Life In Patients With Lupus Syndromes, Emily Meale, Alexandra Fontaine
A Systematic Review On Belimumab’S Effectiveness, Improved Health Outcomes And Quality Of Life In Patients With Lupus Syndromes, Emily Meale, Alexandra Fontaine
Rowan-Virtua Research Day
Autoimmune diseases are prevalent disorders that many individuals within the United States suffer from. Systemic lupus erythematosus (SLE) is a common autoimmune disease that has a high incidence in women of child-bearing age. Management for lupus depends on the anatomical location SLE manifests, the severity of disease, and the tolerance that one has for certain adverse effects. Glucocorticoids are commonly used to manage lupus. Currently, long term glucocorticoid usage is associated with devastating adverse effects, so current treatment options aim to mitigate corticosteroids use to improve quality of life while maintaining favorable health outcomes. New management for SLE include biologics …
Advancing Risk Stratification In Hfpef: Unveiling The Potential Of Cardiac Fibrosis Markers For Early Diagnosis And Enhanced Patient Outcomes, Mariam Abdeen
Rowan-Virtua Research Day
Heart failure with preserved ejection fraction (HFpEF) challenges clinicians due to its diverse presentation and limitations in traditional diagnostic criteria. This study delves into the potential of cardiac fibrosis markers like galectin-3, NT-proBNP, and trimethylamine N-oxide (TMAO) to enhance diagnostic precision and patient outcomes in HFpEF. A systematic review of sixteen relevant studies revealed that these biomarkers offer promise for early detection and improved risk assessment. For instance, TMAO indicates systemic implications of HFpEF, while galectin-3 shows predictive value across heart failure types. Additionally, machine-learning models incorporating multiple biomarkers predict significant risk of adverse outcomes. Despite these advances, challenges like …
The Impact Of Stress During Adolescence And The Prevalence Of Pediatric Obesity, Olatunbosun Olakunri, Venkat Venkataraman
The Impact Of Stress During Adolescence And The Prevalence Of Pediatric Obesity, Olatunbosun Olakunri, Venkat Venkataraman
Rowan-Virtua Research Day
Obesity is a chronic condition that can be attributed to myriad factors including socioeconomic status, biological risk factors, and various environmental factors. These factors can be considered stress factors, and exposure to various levels of stress can impact the development of stress within the pediatric patients. The purpose of this study is to assess the association between the environmental, mental, social, physical, and psychological stress adolescents are exposed to and how they contribute to the prevalence of pediatric obesity throughout the United States. Understanding these risk factors can help us as a community and most importantly as clinicians develop better …
Efficacy Of Mcl-1 Inhibitors In Multiple Myeloma Cells Resistant To Bortezomib, Emily Nelson, Omar S. Al-Odat, Sabrina M. Paparo, Daniel A. Guirguis, Gabriella Yao, Manoj Pandey, Subash Jonnalagadda, Tulin Budak-Alpdogan
Efficacy Of Mcl-1 Inhibitors In Multiple Myeloma Cells Resistant To Bortezomib, Emily Nelson, Omar S. Al-Odat, Sabrina M. Paparo, Daniel A. Guirguis, Gabriella Yao, Manoj Pandey, Subash Jonnalagadda, Tulin Budak-Alpdogan
Rowan-Virtua Research Day
Multiple myeloma (MM) is a type of cancer that affects plasma B cells. Patients with MM often experience frequent relapses and can develop resistance to drugs. As a medical researcher, it is important to understand the role of Mcl-1 in preventing intrinsic apoptosis and drug resistance. Mcl-1 belongs to the anti-apoptotic subgroup of Bcl-2 family proteins and plays a crucial role in these processes. Mcl-1 plays a crucial role in driving disease progression and contributing to drug resistance in MM. It has been observed that there is an increased expression of Mcl-1 in 52% of patients with MM during diagnosis, …
Investigating The Therapeutic Potential Of Soursop In Treating Hematologic Malignancies, Sabrina Marie Paparo, Rebeca Mendoza, Robert Chitren, Omar Al-Odat, Emily Nelson, Subash Jonnalagadda, Roger Strair, Manoj Pandey
Investigating The Therapeutic Potential Of Soursop In Treating Hematologic Malignancies, Sabrina Marie Paparo, Rebeca Mendoza, Robert Chitren, Omar Al-Odat, Emily Nelson, Subash Jonnalagadda, Roger Strair, Manoj Pandey
Rowan-Virtua Research Day
Acute Myeloid Leukemia (AML) and Multiple Myeloma (MM) are hematologic malignancies that originate in the bone marrow and account for approximately 1.3% and 2% of cancer cases, respectively. AML is characterized by an accumulation of myeloblasts, or immature myeloid cells, that have the potential to spread to the peripheral blood. There is an uncontrolled proliferation of plasma cells in the bone marrow in MM. While the current treatment options for both AML and MM show promise in achieving initial remission, it is unfortunately common for patients to experience relapse and develop drug resistance. There is a theory that relapse and …