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Articles 2371 - 2400 of 13601
Full-Text Articles in Entire DC Network
Exploring Sex-Specific Clinical Features In Chinese Patients With Takotsubo Syndrome, Hong-Yi Duan, Kan Liu, Et Al.
Exploring Sex-Specific Clinical Features In Chinese Patients With Takotsubo Syndrome, Hong-Yi Duan, Kan Liu, Et Al.
2020-Current year OA Pubs
BACKGROUND: Takotsubo syndrome (TTS) is considered as a transient acute heart failure syndrome predominant in females. However, data on Chinese TTS patients are limited. Therefore, this study aimed to investigate the clinical characteristics of Chinese TTS patients, identify prognostic markers.
METHODS: A total of 258 TTS patients were enrolled. Data on clinical characteristics and in-hospital major adverse cardiovascular events (MACE) were collected and analyzed. The latter included severe heart failure, shock, malignant arrhythmia, and death.
RESULTS: The average age of TTS patients was 59.3 ± 19.2 years. Female patients accounted for 68.9%. MACE occurred in 41.4% of patients during hospitalization. …
Improving Genetics Equity: Identifying Women Eligible For Genetic Care Services Using Mammography Clinics In Underserved Areas As Screening Hubs, Darya Kizub, Rachel Bluebond, Sierra Green, Jessica Duckworth, Sreejesh Shanker, Autumn Vara, Banu Arun
Improving Genetics Equity: Identifying Women Eligible For Genetic Care Services Using Mammography Clinics In Underserved Areas As Screening Hubs, Darya Kizub, Rachel Bluebond, Sierra Green, Jessica Duckworth, Sreejesh Shanker, Autumn Vara, Banu Arun
Faculty, Staff and Student Publications
PURPOSE: Fewer than 20% of underserved individuals undergo guideline-concordant hereditary breast and ovarian cancer (HBOC) genetic testing (GT). Our study aimed to determine the proportion of women eligible for HBOC GT using a cancer genetics risk assessment (CGRA) tool at breast cancer (BC) screening clinics in underserved communities and to describe the program's impact.
METHODS: Participants were women who presented for BC screening at The Rose clinics, serving low-income underserved communities in southeast Texas, and completed the CGRA. High-risk individuals received bilingual educational materials and a saliva-based GT kit. Those with a pathogenic variant (PV) or a variant of uncertain …
Supporting Patients With Advanced Cancer And Their Spouses In Parenting Minor Children: Results Of A Randomized Controlled Trial, Kathrin Milbury, Sujin Ann-Yi, Meagan S Whisenant, Morgan Jones, Yisheng Li, Victoria Necroto, Sania D Yousuf, Mariana Chavez-Macgregor, Larrisa Meyers, Eduardo Bruera
Supporting Patients With Advanced Cancer And Their Spouses In Parenting Minor Children: Results Of A Randomized Controlled Trial, Kathrin Milbury, Sujin Ann-Yi, Meagan S Whisenant, Morgan Jones, Yisheng Li, Victoria Necroto, Sania D Yousuf, Mariana Chavez-Macgregor, Larrisa Meyers, Eduardo Bruera
Faculty, Staff and Student Publications
Introduction: Patients with advanced cancer and their spousal caregivers who parent minor children report unmet parenting concerns and increased psychological distress. Seeking to address these important supportive care needs, this RCT examined the feasibility, acceptability, and initial evidence for the efficacy of a novel psychosocial intervention.
Patients and methods: Patients with a metastatic solid malignancy and their spouses completed self-reported validated assessments of psychological symptoms and cancer-related parenting outcomes and were then randomized to the parent support intervention or a usual care (UC) group. Both groups were reassessed 6 and 12 weeks later. Dyads randomized to the counselor-led intervention attended …
Human Extravillous Trophoblasts Require Src-2 For Sustained Viability, Migration, And Invasion, Vineet K Maurya, Pooja Popli, Bryan C Nikolai, David M Lonard, Ramakrishna Kommagani, Bert W O'Malley, John P Lydon
Human Extravillous Trophoblasts Require Src-2 For Sustained Viability, Migration, And Invasion, Vineet K Maurya, Pooja Popli, Bryan C Nikolai, David M Lonard, Ramakrishna Kommagani, Bert W O'Malley, John P Lydon
Faculty, Staff and Students Publications
Defective placentation is a recognized etiology for several gestational complications that include early pregnancy loss, preeclampsia, and intrauterine growth restriction. Sustained viability, migration, and invasion are essential cellular properties for embryonic extravillous trophoblasts to execute their roles in placental development and function, while derailment of these cellular processes is linked to placental disorders. Although the cellular functions of extravillous trophoblasts are well recognized, our understanding of the pivotal molecular determinants of these functions is incomplete. Using the HTR-8/SVneo immortalized human extravillous trophoblast cell line, we report that steroid receptor coactivator-2 (SRC-2), a coregulator of transcription factor-mediated gene expression, is essential …
Amino Acid Transporter Lat1 (Slc7a5) Promotes Metabolic Rewiring In Tnbc Progression Through The L-Trp/Qprt/Nad+ Pathway, Margot Y. Fedoroff, Lei Zhao, Shaomin Wang, Alok Bhushan, Haifeng Yang, Karen M. Bussard, Stephen C. Peiper, Jun He
Amino Acid Transporter Lat1 (Slc7a5) Promotes Metabolic Rewiring In Tnbc Progression Through The L-Trp/Qprt/Nad+ Pathway, Margot Y. Fedoroff, Lei Zhao, Shaomin Wang, Alok Bhushan, Haifeng Yang, Karen M. Bussard, Stephen C. Peiper, Jun He
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
BACKGROUND: Cancer cells uptake excessive nutrients by expressing higher levels of glucose and/or amino acid transporters to meet their increased energy demands. L-type amino acid transporter 1 (LAT1), is regarded as a cancer-specific transporter for the uptake of large neutral amino acids such as L-tryptophan. However, the mechanism by which LAT1 rewires cellular metabolism to promote cancer progression and chemoresistance have not yet been investigated.
METHODS: The protein levels of LAT1, p-PKM2, and p-LDHA were determined in breast cancer tissue arrays by immunohistochemistry staining followed by survival analysis. The orthotopic breast cancer models in mice, syngeneic breast cancer models, and …
Transcriptomic And Histological Characteristics Of Innate Immune Activation In Brain Parenchyma In A Rat Model Of Neonatal Intraventricular Hemorrhage, Miriam Zamorano, Sanjna Udtha, Aidan M Collier, Erica Underwood, Razan El Sayed, Ankit Agarwal, Devin S Hatchell, Chunfeng Tan, Paul J Nietert, Scott D Olson, Brandon A Miller
Transcriptomic And Histological Characteristics Of Innate Immune Activation In Brain Parenchyma In A Rat Model Of Neonatal Intraventricular Hemorrhage, Miriam Zamorano, Sanjna Udtha, Aidan M Collier, Erica Underwood, Razan El Sayed, Ankit Agarwal, Devin S Hatchell, Chunfeng Tan, Paul J Nietert, Scott D Olson, Brandon A Miller
Faculty, Staff and Student Publications
Background: Intraventricular hemorrhage (IVH) remains a major complication in preterm infants with lifelong sequelae. There is no effective treatment for IVH other than supportive care and surgery for post-hemorrhagic hydrocephalus. We previously reported that the innate neuroimmune response in an animal model of IVH was dependent on developmental stage, only occurring in older animals.
Methods: This study utilized a lysed-blood injection model of IVH in rats. This model specifically captures the effects of blood products released by IVH on brain parenchyma. We performed RNAseq and differential gene expression analysis on CD11b/c-positive cells in the brain (microglia/macrophages) to define gene expression …
Direct Inhibition Of Ras Reveals The Features Of Oncogenic Signaling Driven By Ras G12 And Q61 Mutations, Michelangelo Marasco, Dinesh Kumar, Santiago Garcia Borrego, Tessa Seale, Giulia Maddalena, Riccardo Mezzadra, Kylie Belanger, Soren Cole, Brayan Perez, Wei Luan, Radha Mukherjee, Ilinca Aricescu, Vladimir Markov, Yuxin Zhu, Sabrina Arena, Alberto Bardelli, Elisa De Stanchina, Scott W Lowe, Richard A Burkhart, Jacquelyn W Zimmerman, Rona Yaeger, Scott E Kopetz, Neal Rosen, Sandra Misale
Direct Inhibition Of Ras Reveals The Features Of Oncogenic Signaling Driven By Ras G12 And Q61 Mutations, Michelangelo Marasco, Dinesh Kumar, Santiago Garcia Borrego, Tessa Seale, Giulia Maddalena, Riccardo Mezzadra, Kylie Belanger, Soren Cole, Brayan Perez, Wei Luan, Radha Mukherjee, Ilinca Aricescu, Vladimir Markov, Yuxin Zhu, Sabrina Arena, Alberto Bardelli, Elisa De Stanchina, Scott W Lowe, Richard A Burkhart, Jacquelyn W Zimmerman, Rona Yaeger, Scott E Kopetz, Neal Rosen, Sandra Misale
Faculty, Staff and Student Publications
RAS genes are frequently mutated in cancer, often at codons 12 and 61. With the recent introduction of RAS inhibitors, we can now directly investigate the effects of specific RAS mutations in cancer cells. In this study, we demonstrate that in tumors with RASG12X mutations, mutant RAS can be activated by receptor tyrosine kinases (RTK), and PI3K activation is dependent on mutant RAS. Conversely, RASQ61X mutations activate the MAPK cascade independently of RTKs, and inhibition of RASQ61X impairs MAPK pathway activation but leaves the PI3K pathway unaffected. Our characterization of these distinct features of G12X and Q61X mutations suggests that …
Ptpn11 Mutations Define A Rare But Highly Adverse Subset Of Myelodysplastic Syndromes, Alexandre Bazinet, Alex Bataller, Guillermo Montalban-Bravo, Kelly Chien, Koji Sasaki, Wei Ying Jen, Mahesh Swaminathan, Tapan Kadia, Courtney Dinardo, Farhad Ravandi, Guillermo Garcia-Manero, Hagop Kantarjian
Ptpn11 Mutations Define A Rare But Highly Adverse Subset Of Myelodysplastic Syndromes, Alexandre Bazinet, Alex Bataller, Guillermo Montalban-Bravo, Kelly Chien, Koji Sasaki, Wei Ying Jen, Mahesh Swaminathan, Tapan Kadia, Courtney Dinardo, Farhad Ravandi, Guillermo Garcia-Manero, Hagop Kantarjian
Faculty, Staff and Student Publications
No abstract provided.
Genome-Wide Association Study For Lung Cancer In 6531 African Americans Reveals New Susceptibility Loci, Jinyoung Byun, Younghun Han, Jiyeon Choi, Ryan Sun, Vikram R Shaw, Catherine Zhu, Xiangjun Xiao, Christine Lusk, Hoda Badr, Hyun-Sung Lee, Hee-Jin Jang, Yafang Li, Hyeyeun Lim, Erping Long, Yanhong Liu, Linda Kachuri, Kyle M Walsh, John K Wiencke, Demetrius Albanes, Stephen Lam, Adonina Tardon, Marian L Neuhouser, Matt J Barnett, Chu Chen, Stig Bojesen, Hermann Brenner, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeböller, David C Christiani, Gad Rennert, Susanne Arnold, John K Field, Sanjay Shete, Loic Le Marchand, Geoffrey Liu, Angeline S Andrew, Shanbeh Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Fiona Taylor, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Alpa Patel, Xihong Lin, Krista A Zanetti, Curtis C Harris, Stephen Chanock, James Mckay, Ann G Schwartz, Rayjean J Hung, Christopher I Amos
Genome-Wide Association Study For Lung Cancer In 6531 African Americans Reveals New Susceptibility Loci, Jinyoung Byun, Younghun Han, Jiyeon Choi, Ryan Sun, Vikram R Shaw, Catherine Zhu, Xiangjun Xiao, Christine Lusk, Hoda Badr, Hyun-Sung Lee, Hee-Jin Jang, Yafang Li, Hyeyeun Lim, Erping Long, Yanhong Liu, Linda Kachuri, Kyle M Walsh, John K Wiencke, Demetrius Albanes, Stephen Lam, Adonina Tardon, Marian L Neuhouser, Matt J Barnett, Chu Chen, Stig Bojesen, Hermann Brenner, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeböller, David C Christiani, Gad Rennert, Susanne Arnold, John K Field, Sanjay Shete, Loic Le Marchand, Geoffrey Liu, Angeline S Andrew, Shanbeh Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Fiona Taylor, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Alpa Patel, Xihong Lin, Krista A Zanetti, Curtis C Harris, Stephen Chanock, James Mckay, Ann G Schwartz, Rayjean J Hung, Christopher I Amos
Faculty, Staff and Student Publications
Despite lung cancer affecting all races and ethnicities, disparities are observed in incidence and mortality rates among different ethnic groups in the United States. Non-Hispanic African Americans had a high incidence rate of lung cancer at 55.8 per 100 000 people, as well as the highest death rate at 37.2 per 100 000 people from 2016 to 2020. While previous genome-wide association studies (GWAS) have identified over 45 susceptibility risk loci that influence lung cancer development, few GWAS have investigated the etiology of lung cancer in African Americans. To address this gap in knowledge, we conducted GWAS of lung cancer …
Recurrent De Novo Variants In The Spliceosomal Factor Crnkl1 Are Associated With Severe Microcephaly And Pontocerebellar Hypoplasia With Seizures, Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Gemma Poke, Nathalie De Vries, Sarah Duerinckx, Damien Lederer, Muzhirah Haniffa, Wee-Teik Keng, Gaik-Siew Ch'ng, David A Parry, Andrew P Jackson, Masamune Sakamoto, Naomichi Matsumoto, Noriko Miyake, Shin Nabatame, Hidetoshi Taniguchi, Emma Wakeling, Katrin Õunap, Pilvi Ilves, Ghayda Mirzaa, Andrew Timms, Emily Pao, Kimberly A Aldinger, William Dobyns, Axel Bohring, Beate Behre, Daniel G Calame, James R Lupski, Juan M Pascual, Marc Abramowicz, Gregory Gimenez, Louise S Bicknell
Recurrent De Novo Variants In The Spliceosomal Factor Crnkl1 Are Associated With Severe Microcephaly And Pontocerebellar Hypoplasia With Seizures, Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Gemma Poke, Nathalie De Vries, Sarah Duerinckx, Damien Lederer, Muzhirah Haniffa, Wee-Teik Keng, Gaik-Siew Ch'ng, David A Parry, Andrew P Jackson, Masamune Sakamoto, Naomichi Matsumoto, Noriko Miyake, Shin Nabatame, Hidetoshi Taniguchi, Emma Wakeling, Katrin Õunap, Pilvi Ilves, Ghayda Mirzaa, Andrew Timms, Emily Pao, Kimberly A Aldinger, William Dobyns, Axel Bohring, Beate Behre, Daniel G Calame, James R Lupski, Juan M Pascual, Marc Abramowicz, Gregory Gimenez, Louise S Bicknell
Faculty, Staff and Students Publications
Splicing is a complex process that is required to create the transcriptomic diversity needed for specialized functions in higher eukaryotes. The spliceosome contains more than 100 proteins and RNA molecules, which coordinate this dynamic process. Despite the ubiquity of splicing, pathogenic variants in spliceosomal components often cause a tissue-specific phenotype, hinting at further complexities that are not yet fully understood. We have identified a cohort of ten families with de novo missense variants in a spliceosomal component, CRNKL1, where nine individuals harbor one of two missense variants that both affect the same amino acid, Arg267. All affected individuals share a …
Genomic Rare Variant Mechanisms For Congenital Cardiac Laterality Defect: A Digenic Model Approach, Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J Coveler, Zain Dardas, Iman Egab, Jiaoyang Xu, Philip J Lupo, A J Agopian, Dennis Kostka, Cecilia W Lo, S Stephen Yi, Bruce D Gelb, Christine E Seidman, Eric Boerwinkle, Jennifer E Posey, Richard A Gibbs, James R Lupski, Shaine A Morris, Zeynep Coban-Akdemir
Genomic Rare Variant Mechanisms For Congenital Cardiac Laterality Defect: A Digenic Model Approach, Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J Coveler, Zain Dardas, Iman Egab, Jiaoyang Xu, Philip J Lupo, A J Agopian, Dennis Kostka, Cecilia W Lo, S Stephen Yi, Bruce D Gelb, Christine E Seidman, Eric Boerwinkle, Jennifer E Posey, Richard A Gibbs, James R Lupski, Shaine A Morris, Zeynep Coban-Akdemir
Faculty, Staff and Students Publications
Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. The genetic etiology that underlies congenital heart disease (CHD) is often unknown (less than 40%), so we used a digenic model approach for the identification of contributing variants in known laterality-defect-associated genes (n = 115) in the exome/genome sequencing (ES/GS) data from individuals with clinically diagnosed laterality defects. The unsolved ES/GS data were analyzed from three CHD cohorts: Baylor College of Medicine-Genomics Research to Elucidate the Genetics of Rare Diseases (BCM-GREGoR; n= 251 proband ES), Gabriella Miller Kids First Pediatric Research Program (Kids First; n = 158 …
Anapc5 And Anapc7 As Genetic Modifiers Of Kif18a Function In Fertility And Mitotic Progression., Carleigh Nesbit, Whitney Martin, Anne M Czechanski, Candice Byers, Narayanan Raghupathy, Ardian Ferraj, Jason Stumpff, Laura G Reinholdt
Anapc5 And Anapc7 As Genetic Modifiers Of Kif18a Function In Fertility And Mitotic Progression., Carleigh Nesbit, Whitney Martin, Anne M Czechanski, Candice Byers, Narayanan Raghupathy, Ardian Ferraj, Jason Stumpff, Laura G Reinholdt
Faculty Research 2025
The kinesin family member 18 A (KIF18A) is an essential regulator of microtubule dynamics and chromosome alignment during mitosis. Functional dependency on KIF18A varies by cell type and genetic context but the heritable factors that influence this dependency remain unknown. To address this, we took advantage of the variable penetrance observed in different mouse strain backgrounds to screen for loci that modulate germ cell depletion in the absence of KIF18A. We found a significant association at a Chr5 locus where anaphase promoting complex subunits 5 (Anapc5) and 7 (Anapc7) were the top candidate genes. We found that both genes were …
Assessment Of Functioning Using The Whodas 20 Among People With Myasthenia Gravis-Associated Disability: A Nationwide Follow-Up Study, Jia-Pei Hong, Chih-Hong Lee, Chien Tai Hong, Lung Chan, Chen-Chih Chung, Prangthip Charoenpong, Hou-Chang Chiu, Tsan-Hon Liou
Assessment Of Functioning Using The Whodas 20 Among People With Myasthenia Gravis-Associated Disability: A Nationwide Follow-Up Study, Jia-Pei Hong, Chih-Hong Lee, Chien Tai Hong, Lung Chan, Chen-Chih Chung, Prangthip Charoenpong, Hou-Chang Chiu, Tsan-Hon Liou
Faculty, Staff and Students Publications
Background: Advancements in treatment have increased the life expectancy of patients with Myasthenia Gravis (MG), yet the understanding of functional changes in these individuals remains limited. In our study, we explored the functional abilities of individuals with MG using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0).
Methods: This observational study analyzed data from 286 patients with MG, acquired from the Data Bank of Persons with Disabilities (TDPD) in Taiwan between July 11, 2012, and December 31, 2021. Participants were diagnosed with MG after the acute phase. The functional disability outcome was assessed using the WHODAS 2.0. Due …
Oxytocin Reduces Asymmetries In Dominance Relationships Between Pairs Of Captive Female Lions, Jessica C Burkhart, Abby Guthmann, Evianne M Dubois, Sarah R Heilbronner, Craig Packer
Oxytocin Reduces Asymmetries In Dominance Relationships Between Pairs Of Captive Female Lions, Jessica C Burkhart, Abby Guthmann, Evianne M Dubois, Sarah R Heilbronner, Craig Packer
Faculty, Staff and Students Publications
Free-ranging female African lions maintain symmetrical social relationships by respecting each other's "ownership" of valuable food items rather than by supplanting subordinates according to well-defined dominance hierarchies. However, captivity often skews relationships in captive carnivores, hence we investigated whether captive female lions demonstrate obvious dominance relationships. Oxytocin has been shown to elicit context-specific impacts that equalize dominant subordinate relationships, thus we hypothesized that oxytocin would reduce any asymmetries found between dominants and subordinates in captive lions. We designed two experimental protocols for investigating pairwise relationships. We first identified dominant individuals by performing neutral trials that allowed each female equal opportunity …
Immature Acta2r179c/+ Smooth Muscle Cells Cause Moyamoya-Like Cerebrovascular Lesions In Mice Prevented By Boosting Oxphos, Anita Kaw, Suravi Majumder, Jose E Esparza Pinelo, Ting Wu, Zbigniew Starosolski, Zhen Zhou, Albert J Pedroza, Xueyan Duan, Kaveeta Kaw, Angie D Gonzalez, Ripon Sarkar, Michael P Fischbein, Philip L Lorenzi, Lin Tan, Sara A Martinez, Iqbal Mahmud, Laxman Devkota, L Maximilian Buja, Heinrich Taegtmeyer, Ketan B Ghaghada, Sean P Marrelli, Callie S Kwartler, Dianna M Milewicz
Immature Acta2r179c/+ Smooth Muscle Cells Cause Moyamoya-Like Cerebrovascular Lesions In Mice Prevented By Boosting Oxphos, Anita Kaw, Suravi Majumder, Jose E Esparza Pinelo, Ting Wu, Zbigniew Starosolski, Zhen Zhou, Albert J Pedroza, Xueyan Duan, Kaveeta Kaw, Angie D Gonzalez, Ripon Sarkar, Michael P Fischbein, Philip L Lorenzi, Lin Tan, Sara A Martinez, Iqbal Mahmud, Laxman Devkota, L Maximilian Buja, Heinrich Taegtmeyer, Ketan B Ghaghada, Sean P Marrelli, Callie S Kwartler, Dianna M Milewicz
Faculty, Staff and Student Publications
ACTA2 pathogenic variants altering arginine 179 cause childhood-onset strokes due to moyamoya disease (MMD)-like occlusions of the distal internal carotid arteries, but the mechanisms of pathogenesis are unknown and no preventive treatments exist. Here we show that Acta2R179C/+ smooth muscle cells (SMCs) fail to fully differentiate and maintain stem cell-like features, including increased migration and glycolytic flux compared to wildtype (WT) SMCs. Increasing mitochondrial respiration with nicotinamide riboside (NR) drives differentiation and decreases migration of Acta2R179C/+ SMCs. Carotid artery injury of Acta2SMC-R179C/+ mice leads to premature death, intraluminal SMC accumulation leading to MMD-like occlusive lesions, neurologic symptoms, …
Serological Analysis Indicating The Exposure Of Two Volunteers To Relapsing Fever Borrelia Sp. In Nayarit, Mexico, Sofía L Luna-Rojas, Edwin Vázquez-Guerrero, Jose A Hernández-Martínez, Jeanet Serafín-López, Fernando Martínez-Hernández, José Alejandro Martinez-Ibarra, Rigoberto Hernández-Castro, Job E López, J Antonio Ibarra
Serological Analysis Indicating The Exposure Of Two Volunteers To Relapsing Fever Borrelia Sp. In Nayarit, Mexico, Sofía L Luna-Rojas, Edwin Vázquez-Guerrero, Jose A Hernández-Martínez, Jeanet Serafín-López, Fernando Martínez-Hernández, José Alejandro Martinez-Ibarra, Rigoberto Hernández-Castro, Job E López, J Antonio Ibarra
Faculty, Staff and Students Publications
Relapsing fever caused by Borrelia sp. is a neglected disease in Mexico and more studies are needed to update its presence in multiple regions of the country. Here, recombinant proteins glycerophosphodiester phosphodiesterase (GlpQ) and three Borrelia immunogenic protein A (BipA) variants were used for serosurveillance in 142 human serum samples. Results showed that two persons were positive to Borrelia extracts and GlpQ but negative to all three BipA, suggesting they were infected by relapsing fever spirochetes of a yet to be determined species. This shows that testing for GlpQ and Borrelia extracts are a useful tool for potential infections and …
Pan-Cancer Copy Number Analysis Identifies Optimized Size Thresholds And Co-Occurrence Models For Individualized Risk Stratification, Minh P Nguyen, William C Chen, Kanish Mirchia, Abrar Choudhury, Naomi Zakimi, Vijay Nitturi, Tiemo J Klisch, Stephen T Magill, Calixto-Hope G Lucas, Akash J Patel, David R Raleigh
Pan-Cancer Copy Number Analysis Identifies Optimized Size Thresholds And Co-Occurrence Models For Individualized Risk Stratification, Minh P Nguyen, William C Chen, Kanish Mirchia, Abrar Choudhury, Naomi Zakimi, Vijay Nitturi, Tiemo J Klisch, Stephen T Magill, Calixto-Hope G Lucas, Akash J Patel, David R Raleigh
Faculty, Staff and Students Publications
Chromosome instability leading to aneuploidy and accumulation of copy number gains or losses is a hallmark of cancer. Copy number alteration (CNA) signatures are increasingly used for cancer risk stratification, but size thresholds for defining CNAs across cancers are variable and the biological and clinical implications of CNA size heterogeneity and co-occurrence are incompletely understood. Here we analyze CNA and clinical data from 691 meningiomas and 10,383 tumors from The Cancer Genome Atlas to develop cancer- and chromosome-specific size-dependent CNA and CNA co-occurrence models to predict tumor control and overall survival. Our results shed light on technical considerations for biomarker …
Environmental Racism: Associations Between Poverty, Pollution, And Pediatric Gun Violence, Amelia Bray-Aschenbrenner, Jinli Wang, Mary E Bernardin
Environmental Racism: Associations Between Poverty, Pollution, And Pediatric Gun Violence, Amelia Bray-Aschenbrenner, Jinli Wang, Mary E Bernardin
2020-Current year OA Pubs
BACKGROUND: Firearm injuries are the leading cause of death among children in the United States. Research indicates that increased green spaces can reduce violent crime, but the incident locations of pediatric firearm injuries have not been studied in relation to environmental hazards like air pollution, which disproportionately affects underresourced communities.
METHODS: This retrospective, observational cohort study reviewed patients aged 0-18 who presented with firearm injuries at St. Louis Children's Hospital Emergency Department between 2015 and 2021. Groups of city blocks most vulnerable to air pollution ["vulnerable block groups" (VBGs)] were obtained from the St. Louis EcoUrban Assessment Tool and sociodemographic …
Evaluation Of The Feasibility And Effectiveness Of Trauma-Focused Cognitive Behavioural Therapy For Children And Youth In Ukraine During The War, Elisa Pfeiffer, Maike Garbade, Renee Beer, Anette Birgersson, Natalie Cabrera, Judith A Cohen, Esther Deblinger, Rafaela Gjini, Veronica Kirsch, Zlatina Kostova, Michael Larsson, Anthony Mannarino, Gavin Moffitt, Marja Onsjö, Tale Ostensjo, Anna Vikgren, Hanna Weyler, Vitalii Klymchuk, Cedric Sachser
Evaluation Of The Feasibility And Effectiveness Of Trauma-Focused Cognitive Behavioural Therapy For Children And Youth In Ukraine During The War, Elisa Pfeiffer, Maike Garbade, Renee Beer, Anette Birgersson, Natalie Cabrera, Judith A Cohen, Esther Deblinger, Rafaela Gjini, Veronica Kirsch, Zlatina Kostova, Michael Larsson, Anthony Mannarino, Gavin Moffitt, Marja Onsjö, Tale Ostensjo, Anna Vikgren, Hanna Weyler, Vitalii Klymchuk, Cedric Sachser
Rowan-Virtua School of Osteopathic Medicine Departmental Research
BACKGROUND: The large-scale Russian invasion of Ukraine in early 2022 resulted in a humanitarian crisis with hundreds of thousands of children exposed to traumatic events. To date, trauma-focused evidence-based treatments (EBTs) for children and youth have not been systematically evaluated and implemented in Ukraine. This study aims at evaluating 1) the feasibility of a training program for Ukrainian therapists on Trauma-Focused Cognitive Behavioural Therapy (TF-CBT) and 2) the feasibility and effectiveness of the treatment for children, youth, and their families in and from Ukraine during the ongoing war.
METHODS: The project "TF-CBT Ukraine" was implemented between March 2022 and May …
Pilot Survey Of Attitudes Toward Xenotransplantation Among Nursing Students In London, Uk., Daniel Rodger, Luz A. Padilla, Daniel J. Hurst, David K C Cooper, Gilberto Buzzi, Antonio Ríos
Pilot Survey Of Attitudes Toward Xenotransplantation Among Nursing Students In London, Uk., Daniel Rodger, Luz A. Padilla, Daniel J. Hurst, David K C Cooper, Gilberto Buzzi, Antonio Ríos
Rowan-Virtua School of Osteopathic Medicine Departmental Research
BACKGROUND: Solid organ xenotransplantation has been approved for clinical trials in the United States. Because of the role of nurses in patient decision-making, it is important to understand the attitudes of the future nursing workforce toward xenotransplantation. This pilot study aimed to investigate the attitudes of adult nursing students toward xenotransplantation.
METHODS: A cross-sectional survey design was used. The online pilot survey was completed by 33 undergraduate adult nursing students at one university in London, England. A minority of the hospitals that students may have had a clinical placement in had a transplant unit. The protocol for this study was …
Novel Validation Of Hdr Brachy Therapy Dosimetry For Cervical Cancer Using Egs_Brachy Monte Carlo Simulations: A Comparative Analysis With Oncentra Treatment Planning System., Duong Thanh Tai, Nguyen Thi Anh Thu, Tran Thien Thanh, Pham Anh Tuan, Marc J P Chamberland, Peter Sandwall, David Bradley, James C L Chow
Novel Validation Of Hdr Brachy Therapy Dosimetry For Cervical Cancer Using Egs_Brachy Monte Carlo Simulations: A Comparative Analysis With Oncentra Treatment Planning System., Duong Thanh Tai, Nguyen Thi Anh Thu, Tran Thien Thanh, Pham Anh Tuan, Marc J P Chamberland, Peter Sandwall, David Bradley, James C L Chow
Oncology Articles
PURPOSE: This study aims to validate HDR brachytherapy dosimetry for cervical cancer patients utilizing the egs_brachy Monte Carlo (MC) simulation.
METHODS: Three cervical cancer patients treated with
RESULTS: TPS-calculated doses were greater than those obtained from MC simulations. For the CTV, the median percentage differences were 7.9% (Q1: 6.4%, Q3: 9.8%; range: 0.4%-10.4%) for D
CONCLUSION: CTV and critical organ doses calculated by the TPS were consistently greater than those obtained from MC simulations. This suggests that the TPS may overestimate dose distributions, especially in heterogeneous regions like the pelvis. These results emphasize the need for continued validation of TPS …
Transcripts With High Distal Heritability Mediate Genetic Effects On Complex Metabolic Traits., Anna L. Tyler, J Matthew Mahoney, Mark P Keller, Candice N Baker, Margaret Gaca, Anuj Srivastava, Isabela Gerdes Gyuricza, Madeleine J Braun, Nadia Rosenthal, Alan D Attie, Gary Churchill, Gregory W. Carter
Transcripts With High Distal Heritability Mediate Genetic Effects On Complex Metabolic Traits., Anna L. Tyler, J Matthew Mahoney, Mark P Keller, Candice N Baker, Margaret Gaca, Anuj Srivastava, Isabela Gerdes Gyuricza, Madeleine J Braun, Nadia Rosenthal, Alan D Attie, Gary Churchill, Gregory W. Carter
Faculty Research 2025
Although many genes are subject to local regulation, recent evidence suggests that complex distal regulation may be more important in mediating phenotypic variability. To assess the role of distal gene regulation in complex traits, we combine multi-tissue transcriptomes with physiological outcomes to model diet-induced obesity and metabolic disease in a population of Diversity Outbred mice. Using a novel high-dimensional mediation analysis, we identify a composite transcriptome signature that summarizes genetic effects on gene expression and explains 30% of the variation across all metabolic traits. The signature is heritable, interpretable in biological terms, and predicts obesity status from gene expression in …
The Loss Of Opa1 Accelerates Intervertebral Disc Degeneration And Osteoarthritis In Aged Mice, Vedavathi Madhu, Miriam Hernandaz-Meadows, Ashley Coleman, Kimheak Sao, Kameron Inguito, Owen Haslam, Paige Boneski, Hiromi Sesaki, Ruteja Barve, John Collins, Makarand Risbud
The Loss Of Opa1 Accelerates Intervertebral Disc Degeneration And Osteoarthritis In Aged Mice, Vedavathi Madhu, Miriam Hernandaz-Meadows, Ashley Coleman, Kimheak Sao, Kameron Inguito, Owen Haslam, Paige Boneski, Hiromi Sesaki, Ruteja Barve, John Collins, Makarand Risbud
Department of Orthopaedic Surgery Faculty Papers
Recent studies have highlighted the importance of mitochondria in NP cells and articular chondrocyte health. Since the understanding of mechanisms governing mitochondrial dynamics in these tissues is lacking, we investigated the role of OPA1, a mitochondrial fusion protein, in their homeostasis. OPA1 knockdown in NP cells altered mitochondrial size and cristae shape and increased the oxygen consumption rate. OPA1 governed the morphology of multiple organelles, including peroxisomes, early endosomes and cis-Golgi and loss resulted in the dysregulation of autophagy. Metabolic profiling and
Who Reconstitutes The Chemotherapy? The Educational And Practice Needs Of Oncology Pharmacists In West Africa: A Call For Multidisciplinary Team Approach In Oncology Care., Runcie C.W. Chidebe, Ramatu M. Alabelewe, Krishna Prasad Sapkota, Darlingtina K. Esiaka, Candidus C. Nwakasi, Gloria C. Okwu, Jacinta Emejulu, Adamu A. Umar, Ndifreke Okwuegbunam, Funsho David, Toyosi Adepoju, Agha A. Agha, Ejike S. Ugwu, Simeon C. Aruah, Richard Mshelia, Rob Duncombe, Noel N. Wannang, Peace C. Babalola, R. Donald Harvey, Cindy O'Bryant, Folakemi T. Odedina
Who Reconstitutes The Chemotherapy? The Educational And Practice Needs Of Oncology Pharmacists In West Africa: A Call For Multidisciplinary Team Approach In Oncology Care., Runcie C.W. Chidebe, Ramatu M. Alabelewe, Krishna Prasad Sapkota, Darlingtina K. Esiaka, Candidus C. Nwakasi, Gloria C. Okwu, Jacinta Emejulu, Adamu A. Umar, Ndifreke Okwuegbunam, Funsho David, Toyosi Adepoju, Agha A. Agha, Ejike S. Ugwu, Simeon C. Aruah, Richard Mshelia, Rob Duncombe, Noel N. Wannang, Peace C. Babalola, R. Donald Harvey, Cindy O'Bryant, Folakemi T. Odedina
Behavioral Science Faculty Publications
PURPOSE: Oncology pharmacists (OPs) play a crucial role in cancer care, treatment, survivorship, and multidisciplinary teams (MDTs). OPs have specialized training in designing, administering, monitoring, and modifying oncology chemotherapy; managing adverse events; and evaluating clinical trials and investigational drugs. Yet, the state of OP has remained largely unknown in the clinical oncology workforce of the West African region. Therefore, this study aimed to understand who reconstitutes chemotherapy and to explain the OP educational and practice needs, challenges, and solutions in Nigeria.
MATERIALS AND METHODS: Using a concurrent embedded mixed method design, 35 OPs completed a questionnaire, and 12 others responded …
Evaluating Large Language Model Performance To Support The Diagnosis And Management Of Patients With Primary Immune Disorders, Nicholas L Rider, Yingya Li, Aaron T Chin, Daniel V Digiacomo, Cullen Dutmer, Jocelyn R Farmer, Kirk Roberts, Guergana Savova, Mei-Sing Ong
Evaluating Large Language Model Performance To Support The Diagnosis And Management Of Patients With Primary Immune Disorders, Nicholas L Rider, Yingya Li, Aaron T Chin, Daniel V Digiacomo, Cullen Dutmer, Jocelyn R Farmer, Kirk Roberts, Guergana Savova, Mei-Sing Ong
Faculty, Staff and Student Publications
Background: Generative artificial intelligence (GAI) is transforming health care in a variety of ways; however, the present utility of GAI for supporting clinicians who treat rare disease such as primary immune disorders (PIs) is not well studied. We evaluated the ability of 6 state-of-the-art large language models (LLMs) for providing clinical guidance about PIs.
Objective: To quantitatively and qualitatively measure the utility of current, open-source LLMs for diagnosing and providing helpful clinical decision support about PIs.
Methods: Five expert clinical immunologists each provided 5 real-world, anonymized PI case vignettes via multi-turn prompting to 6 LLMs (OpenAI GPT-4o, Llama-3.1-8B-Instruct, Llama-3.1-70B-Instruct, Mistral-7B-Instruct-v0.3, …
What Is The Expected Clearance Of Methotrexate? A Therapeutic Drug Monitoring Reference Guide For High-Dose Methotrexate Use In Pediatric Malignancies., Zachary L. Taylor, Tamara P. Miller, Sarah G. Board, Ethan Poweleit, Ashley Chavana, Allison Weisnicht, Austin L. Brown, Melanie B. Bernhardt, Eric S. Schafer, Maureen M. O'Brien, Sharon M. Castellino, Laura Ramsey
What Is The Expected Clearance Of Methotrexate? A Therapeutic Drug Monitoring Reference Guide For High-Dose Methotrexate Use In Pediatric Malignancies., Zachary L. Taylor, Tamara P. Miller, Sarah G. Board, Ethan Poweleit, Ashley Chavana, Allison Weisnicht, Austin L. Brown, Melanie B. Bernhardt, Eric S. Schafer, Maureen M. O'Brien, Sharon M. Castellino, Laura Ramsey
Manuscripts, Articles, Book Chapters and Other Papers
High-dose methotrexate dosage and infusion durations differ across treatment protocols for pediatric leukemia, lymphoma, and osteosarcoma. Supportive care interventions are dependent on a patient's elimination of methotrexate (MTX). Therefore, it is important to establish the expected MTX elimination across protocols. Using modeling and simulation of real-world data, we determined the expected MTX concentrations at common time points from the start of infusion (24, 36, 42, 48, 60, and 72 hours) and the time that each patient would reach a typical discharge threshold (0.4, 0.2, 0.15, and 0.10 µM). These data provide a reference for MTX concentrations for common pediatric protocols.
Daily Physical Activity And Cardiorespiratory Fitness In Adults With Down Syndrome With And Without Congenital Heart Disease., Julianne G. Clina, David A. White, Joseph R. Sherman, Jessica C. Danon, Daniel Forsha, Brian C. Helsel, Richard A. Washburn, Joseph E. Donnelly, Lauren T. Ptomey
Daily Physical Activity And Cardiorespiratory Fitness In Adults With Down Syndrome With And Without Congenital Heart Disease., Julianne G. Clina, David A. White, Joseph R. Sherman, Jessica C. Danon, Daniel Forsha, Brian C. Helsel, Richard A. Washburn, Joseph E. Donnelly, Lauren T. Ptomey
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Individuals with Down syndrome (DS) typically exhibit lower cardiorespiratory fitness and reduced moderate-to-vigorous physical activity (MVPA) compared to persons without disability. Approximately 50-55 % of individuals with DS have congenital heart disease (CHD), which is associated with cardiopulmonary deficiencies and reduced MVPA participation in non-DS populations. It is unknown if CHD related comorbidities compound with DS associated deficits in physical activity and fitness.
OBJECTIVE: To compare physical activity, cardiorespiratory fitness, and cardiovascular function, of persons with DS with and without CHD.
METHODS: Baseline data were used from a 12-month randomized controlled physical activity intervention of adults with DS. Participants …
Volumetric And Diffusion Tensor Imaging Abnormalities Are Associated With Behavioral Changes Post-Concussion In A Youth Pig Model Of Mild Traumatic Brain Injury., Sanjida Islam, Alesa Netzley, Chenyang Li, Jiangyang Zhang, Bianca Dávila-Montero, Ana Vazquez, Shaun Subbaiah, Avner Moeded, Kirk Munoz, Aimee Colbath, Jie Huang, Ricardo Mejia-Alvarez, Jane Manfredi, Galit Pelled
Volumetric And Diffusion Tensor Imaging Abnormalities Are Associated With Behavioral Changes Post-Concussion In A Youth Pig Model Of Mild Traumatic Brain Injury., Sanjida Islam, Alesa Netzley, Chenyang Li, Jiangyang Zhang, Bianca Dávila-Montero, Ana Vazquez, Shaun Subbaiah, Avner Moeded, Kirk Munoz, Aimee Colbath, Jie Huang, Ricardo Mejia-Alvarez, Jane Manfredi, Galit Pelled
Manuscripts, Articles, Book Chapters and Other Papers
Mild traumatic brain injury (mTBI) caused by sports-related incidents in children and youth often leads to prolonged cognitive impairments but remains difficult to diagnose. In order to identify clinically relevant imaging and behavioral biomarkers associated concussion, a closed-head mTBI was induced in adolescent pigs. Twelve (n = 4 male and n = 8 female), 16-week old Yucatan pigs were tested; n = 6 received mTBI and n = 6 received a sham procedure. T1-weighted imaging was used to assess volumetric alterations in different regions of the brain and diffusion tensor imaging (DTI) to examine microstructural damage in white matter. The …
Leveraging Chorionic Villus Biopsies For The Derivation Of Patient-Specific Trophoblast Stem Cells., Kaela Varberg, Ayelen Moreno-Irusta, Allynson Novoa, Brynne Musser, Joseph M. Varberg, Jeremy P. Goering, Irfan Saadi, Khursheed Iqbal, Hiroaki Okae, Takahiro Arima, John Williams, Margareta D. Pisarska, Michael J. Soares
Leveraging Chorionic Villus Biopsies For The Derivation Of Patient-Specific Trophoblast Stem Cells., Kaela Varberg, Ayelen Moreno-Irusta, Allynson Novoa, Brynne Musser, Joseph M. Varberg, Jeremy P. Goering, Irfan Saadi, Khursheed Iqbal, Hiroaki Okae, Takahiro Arima, John Williams, Margareta D. Pisarska, Michael J. Soares
Manuscripts, Articles, Book Chapters and Other Papers
Human trophoblast stem (TS) cells are informative in vitro models for the generation and testing of biologically meaningful hypotheses. The goal of this project was to derive patient-specific TS cell lines from clinically available chorionic villus biopsies. Cell outgrowths were captured from human chorionic villus tissue specimens cultured in modified human TS cell medium. Cell colonies emerged early during the culture and cell lines were established and passaged for several generations. Karyotypes of the newly established chorionic villus-derived trophoblast stem (TSCV) cell lines were determined and compared to initial genetic diagnoses from freshly isolated chorionic villi. Phenotypes of …
Systemic Exogenous Progestins With Or Without Estrogens Are Associated With Decreased Rates Of Venous Procedures For Varicose Veins, Paarth Jain, Adam M. Ostrovsky, Paul J Dimuzio, Luis H. Eraso, Michael Nooromid, Dawn Salvatore, Babak Abai
Systemic Exogenous Progestins With Or Without Estrogens Are Associated With Decreased Rates Of Venous Procedures For Varicose Veins, Paarth Jain, Adam M. Ostrovsky, Paul J Dimuzio, Luis H. Eraso, Michael Nooromid, Dawn Salvatore, Babak Abai
Department of Surgery Faculty Papers
OBJECTIVES: Risk factors for varicose veins (VVs) such as female sex, pregnancy, and obesity are high estrogen states, yet the role of systemic progestins with or without estrogens (SPEs) in VV management is not well characterized. This study investigates how SPE use affects rates of venous procedures for patients with VV.
METHODS: The TriNetX database was queried for subjects with International Classification of Diseases, 10th edition, diagnoses of asymptomatic VV, chronic venous insufficiency, and complicated VV (inflammation or ulceration). Patients were divided into a control cohort with no subsequent SPE use, a progestin-only cohort, and a combined estrogen-progestin (CEP) cohort. …