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Articles 40771 - 40800 of 818727
Full-Text Articles in Entire DC Network
Thorium Ore Dust Research Applicable To Mineral Sands Industry Workers, Gregory S. Hewson, M. I. Ralph, M. Cattani
Thorium Ore Dust Research Applicable To Mineral Sands Industry Workers, Gregory S. Hewson, M. I. Ralph, M. Cattani
Research outputs 2022 to 2026
Historically, radiation exposure to mineral sands workers arose primarily from intake of thorium associated with monazite dust generated in mineral separation plants. Research investigations in the 1990s provided greater insight into the characteristics of inhaled thorium ore dust and bioassay studies inferred that some workers had accumulated significant lung burdens of thorium. Recent changes to biokinetic models have increased the radiation dose assessed to arise from thorium intake, raising questions on the appropriateness of current assumptions used in exposure assessment and feasibility of further bioassay research. Past radiation research undertaken in the Western Australian mineral sands industry is summarised and …
Pathways To Chronic Disease Detection And Prediction: Mapping The Potential Of Machine Learning To The Pathophysiological Processes While Navigating Ethical Challenges, Ebenezer Afrifa-Yamoah, Eric Adua, Emmanuel Peprah-Yamoah, Enoch O. Anto, Victor Opoku-Yamoah, Emmanuel Acheampong, Michael J. Macartney, Rashid Hashmi
Pathways To Chronic Disease Detection And Prediction: Mapping The Potential Of Machine Learning To The Pathophysiological Processes While Navigating Ethical Challenges, Ebenezer Afrifa-Yamoah, Eric Adua, Emmanuel Peprah-Yamoah, Enoch O. Anto, Victor Opoku-Yamoah, Emmanuel Acheampong, Michael J. Macartney, Rashid Hashmi
Research outputs 2022 to 2026
Chronic diseases such as heart disease, cancer, and diabetes are leading drivers of mortality worldwide, underscoring the need for improved efforts around early detection and prediction. The pathophysiology and management of chronic diseases have benefitted from emerging fields in molecular biology like genomics, transcriptomics, proteomics, glycomics, and lipidomics. The complex biomarker and mechanistic data from these “omics” studies present analytical and interpretive challenges, especially for traditional statistical methods. Machine learning (ML) techniques offer considerable promise in unlocking new pathways for data-driven chronic disease risk assessment and prognosis. This review provides a comprehensive overview of state-of-the-art applications of ML algorithms for …
Prognostic, Biological, And Structural Implications Of Flt3-Jmd Point Mutations In Acute Myeloid Leukemia: An Analysis Of Alliance Studies, Nadeen Anabtawi, Geoffrey L Uy, Et Al.
Prognostic, Biological, And Structural Implications Of Flt3-Jmd Point Mutations In Acute Myeloid Leukemia: An Analysis Of Alliance Studies, Nadeen Anabtawi, Geoffrey L Uy, Et Al.
2020-Current year OA Pubs
The FLT3 gene frequently undergoes mutations in acute myeloid leukemia (AML), with internal tandem duplications (ITD) and tyrosine kinase domain (TKD) point mutations (PMs) being most common. Recently, PMs and deletions in the FLT3 juxtamembrane domain (JMD) have been identified, but their biological and clinical significance remains poorly understood. We analyzed 1660 patients with de novo AML and found FLT3-JMD mutations, mostly PMs, in 2% of the patients. Patients with FLT3-JMD mutations had a higher relapse rate and shorter disease-free survival than those with FLT3-TKD, whereas their relapse rate, disease-free and overall survival were not significantly different from those of …
The Single-Cell Immune Profile Throughout Gestation And Its Potential Value For Identifying Women At Risk For Spontaneous Preterm Birth, Dorien Feyaerts, Maïgane Diop, Jose Galaz, Jakob F Einhaus, Petra C Arck, Anke Diemert, Virginia D Winn, Mana Parast, Cynthia Gyamfi-Bannerman, Jelmer R Prins, Nardhy Gomez-Lopez, Ina A Stelzer
The Single-Cell Immune Profile Throughout Gestation And Its Potential Value For Identifying Women At Risk For Spontaneous Preterm Birth, Dorien Feyaerts, Maïgane Diop, Jose Galaz, Jakob F Einhaus, Petra C Arck, Anke Diemert, Virginia D Winn, Mana Parast, Cynthia Gyamfi-Bannerman, Jelmer R Prins, Nardhy Gomez-Lopez, Ina A Stelzer
2020-Current year OA Pubs
Precisely timed immune adaptations, observed in the maternal circulation, underpin the notion of an immune clock of human pregnancy that supports its successful progression and completion at delivery. This immune clock is divided into three immunological phases, with the first phase starting at the time of conception and implantation, shifting into the second phase that supports homeostasis and tolerance throughout pregnancy, and culminating in the last phase of labor and parturition. Disruptions of this immune clock are reported in pregnancy complications such as spontaneous preterm birth. However, our understanding of the immune clock preceding spontaneous preterm birth remains scattered. In …
Integrative Analysis Of The 3d Genome And Epigenome In Mouse Embryonic Tissues, Miao Yu, Yang E Li, Et Al.
Integrative Analysis Of The 3d Genome And Epigenome In Mouse Embryonic Tissues, Miao Yu, Yang E Li, Et Al.
2020-Current year OA Pubs
While a rich set of putative cis-regulatory sequences involved in mouse fetal development have been annotated recently on the basis of chromatin accessibility and histone modification patterns, delineating their role in developmentally regulated gene expression continues to be challenging. To fill this gap, here we mapped chromatin contacts between gene promoters and distal sequences across the genome in seven mouse fetal tissues and across six developmental stages of the forebrain. We identified 248,620 long-range chromatin interactions centered at 14,138 protein-coding genes and characterized their tissue-to-tissue variations and developmental dynamics. Integrative analysis of the interactome with previous epigenome and transcriptome datasets …
Arkansas Soybean Research Studies 2023, Jeremy Ross
Arkansas Soybean Research Studies 2023, Jeremy Ross
Arkansas Agricultural Experiment Station Research Series
The 2023 Arkansas Soybean Research Studies includes research reports on topics pertaining to soybean across several disciplines from breeding to post-harvest processing. Research reports contained in this publication may represent preliminary or only data from a single year or limited results; therefore, these results should not be used as a basis for long-term recommendations.
Several research reports in this publication will appear in other University of Arkansas System Division of Agriculture’s Arkansas Agricultural Experiment Station publications. This duplication is the result of the overlap in research coverage between disciplines and our effort to inform Arkansas soybean producers of the research …
Loncastuximab In High-Risk And Heavily Pretreated Relapsed/Refractory Diffuse Large B-Cell Lymphoma: A Real-World Analysis From 21 Us Centers, Viktoriya Zelikson, Behzad Amoozgar, Brad Kahl, Et Al.
Loncastuximab In High-Risk And Heavily Pretreated Relapsed/Refractory Diffuse Large B-Cell Lymphoma: A Real-World Analysis From 21 Us Centers, Viktoriya Zelikson, Behzad Amoozgar, Brad Kahl, Et Al.
2020-Current year OA Pubs
Outcomes in patients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) are poor. Loncastuximab- teserine (Lonca) is an antibody-drug conjugate which was approved by the Food and Drug Administration for the treatment of patients with R/R DLBCL who have received at least two prior lines of therapy, based on the results of the LOTIS-2 trial. However, there are limited data regarding its efficacy in the real-world setting. This retrospective study included 21 US centers and evaluated outcomes of patients with R/R DLBCL treated with Lonca. Our analysis comprises 187 patients with notably higher-risk baseline features compared to those of the …
Reward Neurocircuitry Predicts Longitudinal Changes In Alcohol Use Following Trauma Exposure, Cecilia A Hinojosa, Stacey L House, Et Al.
Reward Neurocircuitry Predicts Longitudinal Changes In Alcohol Use Following Trauma Exposure, Cecilia A Hinojosa, Stacey L House, Et Al.
2020-Current year OA Pubs
BACKGROUND: Trauma is a risk factor for developing maladaptive alcohol use. Preclinical research has shown that stress alters the processing of midbrain and striatal reward and incentive signals. However, little research has been conducted on alterations in reward-related neurocircuitry posttrauma in humans. Neuroimaging markers may be particularly useful because they can provide insight into the mechanisms that may make an individual vulnerable to developing trauma-related psychopathologies. In this study, we aimed to identify reward-related neural correlates associated with changes in alcohol use after trauma exposure.
METHODS: Participants were recruited from U.S. emergency departments for the AURORA study (n = 286; …
Parameterizing Toxic Stress In Early Childhood: Maternal Depression, Maltreatment, And Hpa-Axis Variation In A Pilot Intervention Study, Rachael E Wagner, Melissa Jonson-Reid, Brett Drake, Patricia L Kohl, Laura Pons, Yi Zhang, Robert T Fitzgerald, Mark L Laudenslager, John N Constantino
Parameterizing Toxic Stress In Early Childhood: Maternal Depression, Maltreatment, And Hpa-Axis Variation In A Pilot Intervention Study, Rachael E Wagner, Melissa Jonson-Reid, Brett Drake, Patricia L Kohl, Laura Pons, Yi Zhang, Robert T Fitzgerald, Mark L Laudenslager, John N Constantino
2020-Current year OA Pubs
Adverse experiences superseding a child's capacity to sustain regulation of emotion and adaptive function are theorized to constitute "toxic stressors" when they induce a deleterious biological response within an individual. We ascertained presumptive parameters of toxic stress among 164 low-income infants and toddlers (ages 4-48 months) from 132 families enrolled in Early Head Start (EHS). We randomized a subset of these families into a pilot intervention arm of parenting education (the Incredible Years, TIY), which supplemented the EHS curriculum. Official report child abuse and neglect (CAN) and child behavior were serially ascertained over the course of the study. We observed …
Arkansas Soybean Performance Tests 2024, J. F. Carlin, R. D. Bond, T. C. Swanson, J. C. Mccoy
Arkansas Soybean Performance Tests 2024, J. F. Carlin, R. D. Bond, T. C. Swanson, J. C. Mccoy
Arkansas Agricultural Experiment Station Research Series
Soybean variety and strain performance tests are conducted each year in Arkansas by the University of Arkansas System Division of Agriculture’s Arkansas Crop Variety Improvement Program. The tests provide information to companies developing varieties and/ or marketing seed within the state and aid the Arkansas Cooperative Extension Service in formulating variety recommendations for soybean producers.
Tuberculosis In Adult Migrants In Europe: A Tbnet Consensus Statement, Heinke Kunst, Berit Lange, Olga Hovardovska, Annabelle Bockey, Dominik Zenner, Aase B Andersen, Sally Hargreaves, Manish Pareek, Jon S Friedland, Christian Wejse, Graham Bothamley, Lorenzo Guglielmetti, Dumitru Chesov, Simon Tiberi, Alberto Matteelli, Anna M Mandalakas, Jan Heyckendorf, Johannes Eimer, Akanksha Malhotra, Javier Zamora, Anca Vasiliu, Christoph Lange, Tbnet
Tuberculosis In Adult Migrants In Europe: A Tbnet Consensus Statement, Heinke Kunst, Berit Lange, Olga Hovardovska, Annabelle Bockey, Dominik Zenner, Aase B Andersen, Sally Hargreaves, Manish Pareek, Jon S Friedland, Christian Wejse, Graham Bothamley, Lorenzo Guglielmetti, Dumitru Chesov, Simon Tiberi, Alberto Matteelli, Anna M Mandalakas, Jan Heyckendorf, Johannes Eimer, Akanksha Malhotra, Javier Zamora, Anca Vasiliu, Christoph Lange, Tbnet
Faculty, Staff and Students Publications
INTRODUCTION: Global migration has increased in recent decades owing to war, conflict, persecution and natural disasters, but also secondary to increased opportunities related to work or study. Migrants' risk of tuberculosis (TB) differs depending on migration, socioeconomic status, mode of travel and TB risk in transit, TB incidence and healthcare provision in country of origin. Despite advances in TB care for migrants and new treatment strategies, decisions for managing migrants at risk of TB often rely on expert opinions, rather than clinical evidence.
METHODS: A systematic literature search was conducted, studies were mapped to different recommendation groups and included studies …
Targeting The Mycn-Mdm2 Pathways For Cancer Therapy: Are They Druggable?, Wei Wang, Yi Du, Sayantap Datta, Josef F Fowler, Hannah T Sang, Najah Albadari, Wei Li, Jennifer Foster, Ruiwen Zhang
Targeting The Mycn-Mdm2 Pathways For Cancer Therapy: Are They Druggable?, Wei Wang, Yi Du, Sayantap Datta, Josef F Fowler, Hannah T Sang, Najah Albadari, Wei Li, Jennifer Foster, Ruiwen Zhang
Faculty, Staff and Students Publications
Targeting oncogenes and their interactive partners is an effective approach to developing novel targeted therapies for cancer and other chronic diseases. We and others have long suggested the MDM2 oncogene being an excellent target for cancer therapy, based on its p53-dependent and -independent oncogenic activities in a variety of cancers. The MYC family proteins are transcription factors that also regulate diverse biological functions. Dysregulation of MYC, such as amplification of MYCN, is associated with tumorigenesis, especially for neuroblastoma. Although the general survival rate of neuroblastoma patients has significantly improved over the past few decades, high-risk neuroblastoma still presents a …
Altered Thermal Preference By Preoptic Estrogen Receptor Alpha Neurons In Postpartum Females, Nan Zhang, Meng Yu, Qianru Zhao, Bing Feng, Yue Deng, Jonathan C Bean, Qingzhuo Liu, Benjamin P Eappen, Yang He, Kristine M Conde, Hailan Liu, Yongjie Yang, Longlong Tu, Mengjie Wang, Yongxiang Li, Na Yin, Hesong Liu, Junying Han, Darah Ave Threat, Nathan Xu, Taylor Smiley, Pingwen Xu, Lulu Chen, Tianshu Zeng, Yanlin He, Chunmei Wang
Altered Thermal Preference By Preoptic Estrogen Receptor Alpha Neurons In Postpartum Females, Nan Zhang, Meng Yu, Qianru Zhao, Bing Feng, Yue Deng, Jonathan C Bean, Qingzhuo Liu, Benjamin P Eappen, Yang He, Kristine M Conde, Hailan Liu, Yongjie Yang, Longlong Tu, Mengjie Wang, Yongxiang Li, Na Yin, Hesong Liu, Junying Han, Darah Ave Threat, Nathan Xu, Taylor Smiley, Pingwen Xu, Lulu Chen, Tianshu Zeng, Yanlin He, Chunmei Wang
Faculty, Staff and Students Publications
OBJECTIVE: This study aims to investigate how reproductive experience (RE) alters thermal preference and thermoregulation in female mice, with a focus on estrogen receptor alpha (ERα)-expressing neurons in the preoptic area (POA).
METHODS: Thermal preference and body temperature were measured in female mice with and without RE, and virgin female mice with selective deletion of ERα from the POA (ERα
RESULTS: We showed that female mice prefer a cooler environment starting from late pregnancy and persisting long term postpartum. Female mice with RE (>4 weeks post-weaning) displayed lower body temperature and a lower thermal preferred temperature, and lost preference …
Multiscale 3d Spatial Analysis Of The Tumor Microenvironment Using Whole-Tissue Digital Histopathology, Daniel Shafiee Kermany, Ju Young Ahn, Matthew Vasquez, Weijie Zhang, Lin Wang, Kai Liu, Zhan Xu, Min Soon Cho, Wendolyn Carlos-Alcalde, Hani Lee, Raksha Raghunathan, Jianting Sheng, Xiaoxin Hao, Hong Zhao, Vahid Afshar-Kharghan, Xiang Hong-Fei Zhang, Stephen Tin Chi Wong
Multiscale 3d Spatial Analysis Of The Tumor Microenvironment Using Whole-Tissue Digital Histopathology, Daniel Shafiee Kermany, Ju Young Ahn, Matthew Vasquez, Weijie Zhang, Lin Wang, Kai Liu, Zhan Xu, Min Soon Cho, Wendolyn Carlos-Alcalde, Hani Lee, Raksha Raghunathan, Jianting Sheng, Xiaoxin Hao, Hong Zhao, Vahid Afshar-Kharghan, Xiang Hong-Fei Zhang, Stephen Tin Chi Wong
Faculty, Staff and Students Publications
No abstract provided.
The Association Between Gulf War Illness And Suicidal Thoughts And Behaviors Among Gulf War Era Veterans, Rachele K Lipsky, Drew A Helmer, Jean C Beckham, Patrick S Calhoun, Mary Jo Pugh, Nathan A Kimbrel
The Association Between Gulf War Illness And Suicidal Thoughts And Behaviors Among Gulf War Era Veterans, Rachele K Lipsky, Drew A Helmer, Jean C Beckham, Patrick S Calhoun, Mary Jo Pugh, Nathan A Kimbrel
Faculty, Staff and Students Publications
The rate of death by suicide is elevated among Veterans of all eras. Chronic symptoms of pain, depression, and sleep disturbances are also common among Veterans, and these symptoms are associated with suicidal thoughts and behaviors. About 25% of the 697,000 Gulf War Era Veterans deployed to the Persian Gulf theater in 1990-1991 remain afflicted with chronic, unexplained symptoms known as Gulf War Illness (GWI). This study used data from a national sample of Gulf War Veterans (N = 1142) who completed a survey of demographic, military, and health information. Multivariable logistic regression models, controlling for confounding variables, tested for …
Evaluation Of Enzyme Activity Predictions For Variants Of Unknown Significance In Arylsulfatase A, Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier De La Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer L Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T Clark
Evaluation Of Enzyme Activity Predictions For Variants Of Unknown Significance In Arylsulfatase A, Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R Cedillo, Silvia Berardelli, Buse Özden, Ken Chen, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Sadhna Rana, Swatantra Pradhan, Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi, Eshel Faraggi, Robert Jernigan, Andrzej Kloczkowski, Jierui Xu, Zigang Song, Selen Özkan, Natàlia Padilla, Xavier De La Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T Jiménez Barrón, Matteo Manfredi, Castrense Savojardo, Giulia Babbi, Pier Luigi Martelli, Rita Casadio, Yuanfei Sun, Shaowen Zhu, Yang Shen, Fabrizio Pucci, Marianne Rooman, Gabriel Cia, Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore, Akash Kamandula, Vikas Pejaver, Rashika Ramola, Michelle Velyunskiy, Daniel Zeiberg, Reet Mishra, Teague Sterling, Jennifer L Goldstein, Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long, Steven E Brenner, Constantina Bakolitsa, Predrag Radivojac, Dean Suhr, Teryn Suhr, Wyatt T Clark
Faculty, Staff and Students Publications
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this goal, the ARSA Critical Assessment of Genome Interpretation (CAGI) challenge was designed to characterize progress by utilizing 219 experimentally assayed missense VUS in the Arylsulfatase A (ARSA) gene to assess the performance of community-submitted predictions of variant functional effects. The challenge involved 15 teams, and evaluated additional predictions from established and recently released models. Notably, a model developed by participants of a genetics and coding bootcamp, trained with standard machine-learning …
Evaluating Predictors Of Kinase Activity Of Stk11 Variants Identified In Primary Human Non-Small Cell Lung Cancers, Yile Chen, Kyoungyeul Lee, Junwoo Woo, Dong-Wook Kim, Changwon Keum, Giulia Babbi, Rita Casadio, Pier Luigi Martelli, Castrense Savojardo, Matteo Manfredi, Yang Shen, Yuanfei Sun, Panagiotis Katsonis, Olivier Lichtarge, Vikas Pejaver, David J Seward, Akash Kamandula, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, Anne O'Donnell-Luria, Sean D Mooney, Shantanu Jain
Evaluating Predictors Of Kinase Activity Of Stk11 Variants Identified In Primary Human Non-Small Cell Lung Cancers, Yile Chen, Kyoungyeul Lee, Junwoo Woo, Dong-Wook Kim, Changwon Keum, Giulia Babbi, Rita Casadio, Pier Luigi Martelli, Castrense Savojardo, Matteo Manfredi, Yang Shen, Yuanfei Sun, Panagiotis Katsonis, Olivier Lichtarge, Vikas Pejaver, David J Seward, Akash Kamandula, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, Anne O'Donnell-Luria, Sean D Mooney, Shantanu Jain
Faculty, Staff and Students Publications
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment of Genome Interpretation (CAGI) challenge, a dataset of 28 STK11 rare variants (27 missense, 1 single amino acid deletion), identified in primary non-small cell lung cancer biopsies, was experimentally assayed to characterize computational methods from four participating teams and five publicly available tools. Predictors demonstrated a high level of performance on key evaluation metrics, measuring correlation with the assay outputs and separating loss-of-function (LoF) variants from wildtype-like (WT-like) variants. The …
Predicting The Impact Of Rare Variants On Rna Splicing In Cagi6, Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas Van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle
Predicting The Impact Of Rare Variants On Rna Splicing In Cagi6, Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas Van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle
Faculty, Staff and Students Publications
Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing are needed to interpret the growing number of variants of unknown significance (VUS) identified by exome and genome sequencing. Here, we present the results of the CAGI6 Splicing VUS challenge, which invited predictions of the splicing impact of 56 variants ascertained clinically and functionally validated to determine splicing impact. The performance of 12 prediction methods, along with SpliceAI and CADD, was compared on the 56 functionally validated variants. The maximum accuracy achieved was …
Phase 3 Validation Of Paam For Hepatocellular Carcinoma Risk Stratification In Cirrhosis, Naoto Fujiwara, Camden Lopez, Tracey L Marsh, Indu Raman, Cesia A Marquez, Subhojit Paul, Sumit K Mishra, Naoto Kubota, Courtney Katz, Hiroaki Kanzaki, Michael Gonzalez, Lisa Quirk, Sneha Deodhar, Pratibha Selvakumar, Prithvi Raj, Neehar D Parikh, Lewis R Roberts, Myron E Schwartz, Mindie H Nguyen, Alex S Befeler, Stephanie Page-Lester, Sudhir Srivastava, Ziding Feng, K Rajender Reddy, Saira Khaderi, Sumeet K Asrani, Fasiha Kanwal, Hashem B El-Serag, Jorge A Marrero, Amit G Singal, Yujin Hoshida
Phase 3 Validation Of Paam For Hepatocellular Carcinoma Risk Stratification In Cirrhosis, Naoto Fujiwara, Camden Lopez, Tracey L Marsh, Indu Raman, Cesia A Marquez, Subhojit Paul, Sumit K Mishra, Naoto Kubota, Courtney Katz, Hiroaki Kanzaki, Michael Gonzalez, Lisa Quirk, Sneha Deodhar, Pratibha Selvakumar, Prithvi Raj, Neehar D Parikh, Lewis R Roberts, Myron E Schwartz, Mindie H Nguyen, Alex S Befeler, Stephanie Page-Lester, Sudhir Srivastava, Ziding Feng, K Rajender Reddy, Saira Khaderi, Sumeet K Asrani, Fasiha Kanwal, Hashem B El-Serag, Jorge A Marrero, Amit G Singal, Yujin Hoshida
Faculty, Staff and Students Publications
Background & aims: Hepatocellular carcinoma (HCC) risk stratification is an urgent unmet need for cost-effective HCC screening and early detection in patients with cirrhosis to improve poor HCC prognosis.
Methods: Molecular (prognostic liver secretome signature with α-fetoprotein) and clinical (aMAP [age, male sex, albumin-bilirubin, and platelets] score) variable-based scores were integrated into PAaM (prognostic liver secretome signature with α-fetoprotein plus age, male sex, albumin-bilirubin, and platelets), which was subsequently validated in 2 phase 3 biomarker validation studies: the statewide Texas HCC Consortium and nationwide HCC Early Detection Strategy prospective cohorts, following the prospective specimen collection, retrospective blinded evaluation design. The …
Genomics And Multiomics In The Age Of Precision Medicine, Srinivasan Mani, Seema R Lalani, Mohan Pammi
Genomics And Multiomics In The Age Of Precision Medicine, Srinivasan Mani, Seema R Lalani, Mohan Pammi
Faculty, Staff and Students Publications
Precision medicine is a transformative healthcare model that utilizes an understanding of a person's genome, environment, lifestyle, and interplay to deliver customized healthcare. Precision medicine has the potential to improve the health and productivity of the population, enhance patient trust and satisfaction in healthcare, and accrue health cost-benefits both at an individual and population level. Through faster and cost-effective genomics data, next-generation sequencing has provided us the impetus to understand the nuances of complex interactions between genes, diet, and lifestyle that are heterogeneous across the population. The emergence of multiomics technologies, including transcriptomics, proteomics, epigenomics, metabolomics, and microbiomics, has enhanced …
Patient Consent And The Right To Notice And Explanation Of Ai Systems Used In Health Care, Meghan E Hurley, Benjamin H Lang, Kristin Marie Kostick-Quenet, Jared N Smith, Jennifer Blumenthal-Barby
Patient Consent And The Right To Notice And Explanation Of Ai Systems Used In Health Care, Meghan E Hurley, Benjamin H Lang, Kristin Marie Kostick-Quenet, Jared N Smith, Jennifer Blumenthal-Barby
Center for Medical Ethics and Health Policy Staff Publications
Given the need for enforceable guardrails for artificial intelligence (AI) that protect the public and allow for innovation, the U.S. Government recently issued a Blueprint for an AI Bill of Rights which outlines five principles of safe AI design, use, and implementation. One in particular, the right to notice and explanation, requires accurately informing the public about the use of AI that impacts them in ways that are easy to understand. Yet, in the healthcare setting, it is unclear what goal the right to notice and explanation serves, and the moral importance of patient-level disclosure. We propose three normative functions …
Navigating Your Us Bioscience Career Into The 2030s, Peter J Hotez
Navigating Your Us Bioscience Career Into The 2030s, Peter J Hotez
Center for Medical Ethics and Health Policy Staff Publications
The coming decade might see major cuts to the United States Government funding for biomedicine and the mainstreaming of pseudoscience. But your biosciences PhD gives you the problem-solving skills to navigate this maelstrom, especially if you maintain flexibility, optimism, and enthusiasm for uncharted paths.
Family Genetic Risk Communication And Reverse Cascade Testing In The Babyseq Project, Melissa K Uveges, Hadley Stevens Smith, Stacey Pereira, Casie Genetti, Amy L Mcguire, Alan H Beggs, Robert C Green, Ingrid A Holm
Family Genetic Risk Communication And Reverse Cascade Testing In The Babyseq Project, Melissa K Uveges, Hadley Stevens Smith, Stacey Pereira, Casie Genetti, Amy L Mcguire, Alan H Beggs, Robert C Green, Ingrid A Holm
Center for Medical Ethics and Health Policy Staff Publications
Purpose: Genomic sequencing of newborns can initiate disease surveillance and therapy for children and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and were identified as having a risk for an autosomal dominant disease.
Methods: We conducted semistructured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely pathogenic variant associated with an autosomal dominant childhood- and/or adult-onset disease returned. We used directed content analysis to derive themes.
Results: From 11 families, all first-degree relatives (n = …
Early Life Epigenetics And Childhood Outcomes: A Scoping Review, Srirupa Hari Gopal, Theresa Alenghat, Mohan Pammi
Early Life Epigenetics And Childhood Outcomes: A Scoping Review, Srirupa Hari Gopal, Theresa Alenghat, Mohan Pammi
Faculty, Staff and Students Publications
Epigenetics is the study of changes in gene expression, without a change in the DNA sequence that are potentially heritable. Epigenetic mechanisms such as DNA methylation, histone modifications, and small non-coding RNA (sncRNA) changes have been studied in various childhood disorders. Causal links to maternal health and toxin exposures can introduce epigenetic modifications to the fetal DNA, which can be detected in the cord blood. Cord blood epigenetic modifications provide evidence of in-utero stressors and immediate postnatal changes, which can impact both short and long-term outcomes in children. The mechanisms of these epigenetic changes can be leveraged for prevention, early …
Multiethnic Growth Standards For Fetal Body Composition And Organ Volumes Derived From 3d Ultrasonography, Katherine L Grantz, Wesley Lee, Lauren M Mack, Magdalena Sanz Cortes, Luis F Goncalves, Jimmy Espinoza, Roger B Newman, William A Grobman, Ronald J Wapner, Karin Fuchs, Mary E D'Alton, Daniel W Skupski, John Owen, Anthony Sciscione, Deborah A Wing, Michael P Nageotte, Angela C Ranzini, Edward K Chien, Sabrina Craigo, Seth Sherman, Robert E Gore-Langton, Dian He, Fasil Tekola-Ayele, Cuilin Zhang, Jagteshwar Grewal, Zhen Chen
Multiethnic Growth Standards For Fetal Body Composition And Organ Volumes Derived From 3d Ultrasonography, Katherine L Grantz, Wesley Lee, Lauren M Mack, Magdalena Sanz Cortes, Luis F Goncalves, Jimmy Espinoza, Roger B Newman, William A Grobman, Ronald J Wapner, Karin Fuchs, Mary E D'Alton, Daniel W Skupski, John Owen, Anthony Sciscione, Deborah A Wing, Michael P Nageotte, Angela C Ranzini, Edward K Chien, Sabrina Craigo, Seth Sherman, Robert E Gore-Langton, Dian He, Fasil Tekola-Ayele, Cuilin Zhang, Jagteshwar Grewal, Zhen Chen
Faculty, Staff and Student Publications
Background: A major goal of contemporary obstetrical practice is to optimize fetal growth and development throughout pregnancy. To date, fetal growth during prenatal care is assessed by performing ultrasonographic measurement of 2-dimensional fetal biometry to calculate an estimated fetal weight. Our group previously established 2-dimensional fetal growth standards using sonographic data from a large cohort with multiple sonograms. A separate objective of that investigation involved the collection of fetal volumes from the same cohort.
Objective: The Fetal 3D Study was designed to establish standards for fetal soft tissue and organ volume measurements by 3-dimensional ultrasonography and compare growth trajectories with …
Effects Of Hiit In Cool And Hot On Temperate Performance And Physiological Response In Trained Cyclists, Jason R. Boynton, Jeremiah J. Peiffer, Chris R. Abbiss
Effects Of Hiit In Cool And Hot On Temperate Performance And Physiological Response In Trained Cyclists, Jason R. Boynton, Jeremiah J. Peiffer, Chris R. Abbiss
Research outputs 2022 to 2026
This study investigated cardiopulmonary responses in hot and cool high-intensity interval training (HIIT) and the subsequent effects on time-trial (TT) performance and physiological responses in temperate conditions. Twenty trained cyclists were separated into 2 groups and completed a 4-week HIIT intervention (8 sessions, 5 × 4 minute) at an environmental temperature (TA) of either 13° C (HIIT13) or 35° C (HIIT35). Cardiorespiratory data (e.g., heart rate [HR] and time above 90% Vo2max [T > 90% Vo2max]) were assessed for the first and last interval sessions. Infjects completed 20 km TTs in temperate conditions (22° C) before (TT1) and after (TT2) HIIT …
Acute Hyperglycemia Induces Podocyte Apoptosis By Monocyte Tnf-Α Release, A Process Attenuated By Vitamin D And Glp-1 Receptor Agonists, Rong M Zhang, Jisu Oh, Burton M Wice, Adriana Dusso, Carlos Bernal-Mizrachi
Acute Hyperglycemia Induces Podocyte Apoptosis By Monocyte Tnf-Α Release, A Process Attenuated By Vitamin D And Glp-1 Receptor Agonists, Rong M Zhang, Jisu Oh, Burton M Wice, Adriana Dusso, Carlos Bernal-Mizrachi
2020-Current year OA Pubs
Targeting optimal glycemic control based on hemoglobin A1c (A1c) values reduces but does not abolish the onset of diabetic kidney disease and its progression to chronic kidney disease (CKD). This suggests that factors other than the average glucose contribute to the residual risk. Vitamin D deficiency and frequent episodes of acute hyperglycemia (AH) are associated with the onset of albuminuria and CKD progression in diabetes. This study aimed to determine if moderate levels of AH harm podocytes directly or promote a pro-inflammatory monocyte/macrophage phenotype that leads to podocyte apoptosis, and whether vitamin D deficiency accelerates these processes. We found that …
Biophysical Response Of A Coastal Woodland To Extreme Water Deficit During A Year Of Record-Breaking Heat, Caitlin E. Moore, Sally E. Thompson, Jason Beringer, Wesley Cooper, Simone Gelsinari, Hoang Long Nguyen, Huanhuan Wang, Qiaoyun Xie, Richard P. Silberstein
Biophysical Response Of A Coastal Woodland To Extreme Water Deficit During A Year Of Record-Breaking Heat, Caitlin E. Moore, Sally E. Thompson, Jason Beringer, Wesley Cooper, Simone Gelsinari, Hoang Long Nguyen, Huanhuan Wang, Qiaoyun Xie, Richard P. Silberstein
Research outputs 2022 to 2026
Global terrestrial and ocean surface temperatures continue to reach record levels, resulting in heat waves, drought, and prolonged heat stress experienced by vegetation in many regions. In 2023-2024, coastal terrestrial ecosystems in Western Australia were particularly affected, experiencing their driest and hottest summer since observations began in the early 1900s. Banksia woodlands are a threatened ecological community in this region that are endangered by the cumulative impacts of climate change, clearing and changing groundwater regimes, the last of which is strongly influenced by the dual use of groundwater resources by the ecosystem and by the ∼2 million people in the …
Exposures Of Western Australian Wildland Firefighters: Insights From Real-Time Monitoring, Kiam Padamsey, Adelle Liebenberg, Ruth Wallace, Jacques Oosthuizen
Exposures Of Western Australian Wildland Firefighters: Insights From Real-Time Monitoring, Kiam Padamsey, Adelle Liebenberg, Ruth Wallace, Jacques Oosthuizen
Research outputs 2022 to 2026
Background: Inhalation of bushfire smoke is a risk to the health of firefighters, particularly across Australia where bushfires are becoming more frequent and intense. This study aimed to use real-time monitoring devices to assess the particle and chemical exposures of Western Australian firefighters during prescribed burns and bushfires. Methods: Participants included volunteer bushfire firefighters and forestry firefighters. Real-time gas and particulate monitors were used across nine unique fire events to evaluate the occupational exposures of firefighters. Findings: Firefighters (n = 40) were exposed to high concentrations of particulate matter (PM), particularly PM10, with concentrations varying widely between individuals and events. …
Genomic Characterisation Of The Relationship And Causal Links Between Vascular Calcification, Alzheimer’S Disease, And Cognitive Traits, Emmanuel O. Adewuyi, Simon M. Laws
Genomic Characterisation Of The Relationship And Causal Links Between Vascular Calcification, Alzheimer’S Disease, And Cognitive Traits, Emmanuel O. Adewuyi, Simon M. Laws
Research outputs 2022 to 2026
Background/Objectives: Observational studies suggest a link between vascular calcification and dementia or cognitive decline, but the evidence is conflicting, and the underlying mechanisms are unclear. Here, we investigate the shared genetic and causal relationships of vascular calcification—coronary artery calcification (CAC) and abdominal aortic calcification (AAC)—with Alzheimer’s disease (AD), and five cognitive traits. Methods: We analyse large-scale genome-wide association studies (GWAS) summary statistics, using well-regarded methods, including linkage disequilibrium score regression (LDSC), Mendelian randomisation (MR), pairwise GWAS (GWAS-PW), and gene-based association analysis. Results: Our findings reveal a nominally significant positive genome-wide genetic correlation between CAC and AD, which becomes non-significant after …