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Genome-Wide Association Study Of Serum Metabolites In The African American Study Of Kidney Disease And Hypertension, Shengyuan Luo, Elena V Feofanova, Adrienne Tin, Sarah Tung, Eugene P Rhee, Josef Coresh, Dan E Arking, Aditya Surapaneni, Pascal Schlosser, Yong Li, Anna Köttgen, Bing Yu, Morgan E Grams Aug 2021

Genome-Wide Association Study Of Serum Metabolites In The African American Study Of Kidney Disease And Hypertension, Shengyuan Luo, Elena V Feofanova, Adrienne Tin, Sarah Tung, Eugene P Rhee, Josef Coresh, Dan E Arking, Aditya Surapaneni, Pascal Schlosser, Yong Li, Anna Köttgen, Bing Yu, Morgan E Grams

Faculty, Staff and Student Publications

The genome-wide association study (GWAS) is a powerful means to study genetic determinants of disease traits and generate insights into disease pathophysiology. to date, few GWAS of circulating metabolite levels have been performed in African Americans with chronic kidney disease. Hypothesizing that novel genetic-metabolite associations may be identified in a unique population of African Americans with a lower glomerular filtration rate (GFR), we conducted a GWAS of 652 serum metabolites in 619 participants (mean measured glomerular filtration rate 45 mL/min/1.73m


The Cgas–Sting Pathway In Diabetic Retinopathy And Age-Related Macular Degeneration, Shannon Erhardt, Mingjie Zheng, Xiaolei Zhao, Tram P Le, Tina O Findley, Jun Wang Jul 2021

The Cgas–Sting Pathway In Diabetic Retinopathy And Age-Related Macular Degeneration, Shannon Erhardt, Mingjie Zheng, Xiaolei Zhao, Tram P Le, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

The neural crest (NC) is a multipotent and temporarily migratory cell population stemming from the dorsal neural tube during vertebrate embryogenesis. Cardiac neural crest cells (NCCs), a specified subpopulation of the NC, are vital for normal cardiovascular development, as they significantly contribute to the pharyngeal arch arteries, the developing cardiac outflow tract (OFT), cardiac valves, and interventricular septum. Various signaling pathways are shown to orchestrate the proper migration, compaction, and differentiation of cardiac NCCs during cardiovascular development. Any loss or dysregulation of signaling pathways in cardiac NCCs can lead to abnormal cardiovascular development during embryogenesis, resulting in abnormalities categorized as …


Oral Factors That Impact The Oral Microbiota In Parkinson's Disease, Natalia S Rozas, Gena D Tribble, Cameron B Jeter Jul 2021

Oral Factors That Impact The Oral Microbiota In Parkinson's Disease, Natalia S Rozas, Gena D Tribble, Cameron B Jeter

Faculty, Staff and Student Publications

Patients with Parkinson's disease (PD) are at increased risk of aspiration pneumonia, their primary cause of death. Their oral microbiota differs from healthy controls, exacerbating this risk. Our goal was to explore if poor oral health, poor oral hygiene, and dysphagia status affect the oral microbiota composition of these patients. In this cross-sectional case-control study, the oral microbiota from hard and soft tissues of patients with PD (n = 30) and age-, gender-, and education-matched healthy controls (n = 30) was compared using 16S rRNA gene sequencing for bacterial identification. Study participants completed dietary, oral hygiene, drooling, and …


White Matter Disruption In Pediatric Traumatic Brain Injury: Results From Enigma Pediatric Moderate To Severe Traumatic Brain Injury, Emily L Dennis, Karen Caeyenberghs, Kristen R Hoskinson, Tricia L Merkley, Stacy J Suskauer, Robert F Asarnow, Talin Babikian, Brenda Bartnik-Olson, Kevin Bickart, Erin D Bigler, Linda Ewing-Cobbs, Anthony Figaji, Christopher C Giza, Naomi J Goodrich-Hunsaker, Cooper B Hodges, Elizabeth S Hovenden, Andrei Irimia, Marsh Königs, Harvey S Levin, Hannah M Lindsey, Jeffrey E Max, Mary R Newsome, Alexander Olsen, Nicholas P Ryan, Adam T Schmidt, Matthew S Spruiell, Benjamin S C Wade, Ashley L Ware, Christopher G Watson, Anne L Wheeler, Keith Owen Yeates, Brandon A Zielinski, Peter Kochunov, Neda Jahanshad, Paul M Thompson, David F Tate, Elisabeth A Wilde Jul 2021

White Matter Disruption In Pediatric Traumatic Brain Injury: Results From Enigma Pediatric Moderate To Severe Traumatic Brain Injury, Emily L Dennis, Karen Caeyenberghs, Kristen R Hoskinson, Tricia L Merkley, Stacy J Suskauer, Robert F Asarnow, Talin Babikian, Brenda Bartnik-Olson, Kevin Bickart, Erin D Bigler, Linda Ewing-Cobbs, Anthony Figaji, Christopher C Giza, Naomi J Goodrich-Hunsaker, Cooper B Hodges, Elizabeth S Hovenden, Andrei Irimia, Marsh Königs, Harvey S Levin, Hannah M Lindsey, Jeffrey E Max, Mary R Newsome, Alexander Olsen, Nicholas P Ryan, Adam T Schmidt, Matthew S Spruiell, Benjamin S C Wade, Ashley L Ware, Christopher G Watson, Anne L Wheeler, Keith Owen Yeates, Brandon A Zielinski, Peter Kochunov, Neda Jahanshad, Paul M Thompson, David F Tate, Elisabeth A Wilde

Faculty, Staff and Student Publications

OBJECTIVE: Our study addressed aims (1) to test the hypothesis that moderate-severe traumatic brain injury (TBI) in pediatric patients is associated with widespread white matter (WM) disruption, (2) to test the hypothesis that age and sex affect WM organization after injury, and (3) to examine associations between WM organization and neurobehavioral outcomes.

METHODS: Data from 10 previously enrolled, existing cohorts recruited from local hospitals and clinics were shared with the Enhancing NeuroImaging Genetics Through Meta-Analysis (ENIGMA) Pediatric Moderate/Severe TBI (msTBI) working group. We conducted a coordinated analysis of diffusion MRI (dMRI) data using the ENIGMA dMRI processing pipeline.

RESULTS: Five …


Therapeutic Efficacy Of A Potent Anti-Venezuelan Equine Encephalitis Virus Antibody Is Contingent On Fc Effector Function, Vanja Krneta-Stankic, Mark E Corkins, Adriana Paulucci-Holthauzen, Malgorzata Kloc, Andrew B Gladden, Rachel K Miller Jul 2021

Therapeutic Efficacy Of A Potent Anti-Venezuelan Equine Encephalitis Virus Antibody Is Contingent On Fc Effector Function, Vanja Krneta-Stankic, Mark E Corkins, Adriana Paulucci-Holthauzen, Malgorzata Kloc, Andrew B Gladden, Rachel K Miller

Faculty, Staff and Student Publications

E-cadherin junctions facilitate assembly and disassembly of cell contacts that drive development and homeostasis of epithelial tissues. In this study, using Xenopus embryonic kidney and Madin-Darby canine kidney (MDCK) cells, we investigate the role of the Wnt/planar cell polarity (PCP) formin Daam1 (Dishevelled-associated activator of morphogenesis 1) in regulating E-cadherin-based intercellular adhesion. Using live imaging, we show that Daam1 localizes to newly formed cell contacts in the developing nephron. Furthermore, analyses of junctional filamentous actin (F-actin) upon Daam1 depletion indicate decreased microfilament localization and slowed turnover. We also show that Daam1 is necessary for efficient and timely localization of junctional …


Monitoring Self-Perceived Occupational Health Inequities In Central America, 2011 And 2018, Michael Silva-Peñaherrera, David Gimeno Ruiz De Porras, George L Delclos, Marianela Rojas Garbanzo, Pamela Merino-Salazar, Maria Lopez-Ruiz, Fernando G Benavides Jul 2021

Monitoring Self-Perceived Occupational Health Inequities In Central America, 2011 And 2018, Michael Silva-Peñaherrera, David Gimeno Ruiz De Porras, George L Delclos, Marianela Rojas Garbanzo, Pamela Merino-Salazar, Maria Lopez-Ruiz, Fernando G Benavides

Faculty, Staff and Student Publications

Objectives. to analyze changes in occupational health inequity between 2011 and 2018 among workers in Central America. Methods. Data were collected by face-to-face interviews at the workers' homes for the 2 Central America Working Conditions Surveys (n = 12 024 in 2011 and n = 9030 in 2018). We estimated health inequity gaps by means of absolute and relative population attributable risks and the weighted Keppel index. We stratified all analyses by gender. Results. Between 2011 and 2018, the proportion of workers reporting poor self-perceived health decreased both in women (from 32% to 29%) and men (from 33% to 30%). …


Magnetic Resonance Biomarkers In Radiation Oncology: The Report Of Aapm Task Group 294, Kiaran P Mcgee, Ken-Pin Hwang, Daniel C Sullivan, John Kurhanewicz, Yanle Hu, Jihong Wang, Wen Li, Josef Debbins, Eric Paulson, Jeffrey R Olsen, Chia-Ho Hua, Lizette Warner, Daniel Ma, Eduardo Moros, Neelam Tyagi, Caroline Chung Jul 2021

Magnetic Resonance Biomarkers In Radiation Oncology: The Report Of Aapm Task Group 294, Kiaran P Mcgee, Ken-Pin Hwang, Daniel C Sullivan, John Kurhanewicz, Yanle Hu, Jihong Wang, Wen Li, Josef Debbins, Eric Paulson, Jeffrey R Olsen, Chia-Ho Hua, Lizette Warner, Daniel Ma, Eduardo Moros, Neelam Tyagi, Caroline Chung

Faculty, Staff and Student Publications

A magnetic resonance (MR) biologic marker (biomarker) is a measurable quantitative characteristic that is an indicator of normal biological and pathogenetic processes or a response to therapeutic intervention derived from the MR imaging process. There is significant potential for MR biomarkers to facilitate personalized approaches to cancer care through more precise disease targeting by quantifying normal versus pathologic tissue function as well as toxicity to both radiation and chemotherapy. Both of which have the potential to increase the therapeutic ratio and provide earlier, more accurate monitoring of treatment response. The ongoing integration of MR into routine clinical radiation therapy (RT) …


Development Of A Multilevel Intervention To Increase Colorectal Cancer Screening In Appalachia, Aaron J Kruse-Diehr, Jill M Oliveri, Robin C Vanderpool, Mira L Katz, Paul L Reiter, Darrell M Gray, Michael L Pennell, Gregory S Young, Bin Huang, Darla Fickle, Mark Cromo, Melinda Rogers, David Gross, Ashley Gibson, Jeanne Jellison, Michael D Sarap, Tonia A Bivens, Tracy D Mcguire, Ann Scheck Mcalearney, Timothy R Huerta, Saurabh Rahurkar, Electra D Paskett, Mark Dignan May 2021

Development Of A Multilevel Intervention To Increase Colorectal Cancer Screening In Appalachia, Aaron J Kruse-Diehr, Jill M Oliveri, Robin C Vanderpool, Mira L Katz, Paul L Reiter, Darrell M Gray, Michael L Pennell, Gregory S Young, Bin Huang, Darla Fickle, Mark Cromo, Melinda Rogers, David Gross, Ashley Gibson, Jeanne Jellison, Michael D Sarap, Tonia A Bivens, Tracy D Mcguire, Ann Scheck Mcalearney, Timothy R Huerta, Saurabh Rahurkar, Electra D Paskett, Mark Dignan

Faculty, Staff and Student Publications

BACKGROUND: Colorectal cancer (CRC) screening rates are lower in Appalachian regions of the United States than in non-Appalachian regions. Given the availability of various screening modalities, there is critical need for culturally relevant interventions addressing multiple socioecological levels to reduce the regional CRC burden. In this report, we describe the development and baseline findings from year 1 of "Accelerating Colorectal Cancer Screening through Implementation Science (ACCSIS) in Appalachia," a 5-year, National Cancer Institute Cancer Moonshot

METHODS: Project development was theory-driven and included the establishment of both an external Scientific Advisory Board and a Community Advisory Board to provide guidance in …


Exercise-Induced Alterations In Phospholipid Hydrolysis, Airway Surfactant, And Eicosanoids And Their Role In Airway Hyperresponsiveness In Asthma, Ryan C Murphy, Ying Lai, James D Nolin, Robier A Aguillon Prada, Arindam Chakrabarti, Michael V Novotny, Michael C Seeds, William A Altemeier, Michael H Gelb, Robert Duncan Hite, Teal S Hallstrand May 2021

Exercise-Induced Alterations In Phospholipid Hydrolysis, Airway Surfactant, And Eicosanoids And Their Role In Airway Hyperresponsiveness In Asthma, Ryan C Murphy, Ying Lai, James D Nolin, Robier A Aguillon Prada, Arindam Chakrabarti, Michael V Novotny, Michael C Seeds, William A Altemeier, Michael H Gelb, Robert Duncan Hite, Teal S Hallstrand

Faculty, Staff and Student Publications

The mechanisms responsible for driving endogenous airway hyperresponsiveness (AHR) in the form of exercise-induced bronchoconstriction (EIB) are not fully understood. We examined alterations in airway phospholipid hydrolysis, surfactant degradation, and lipid mediator release in relation to AHR severity and changes induced by exercise challenge. Paired induced sputum (


Genetic And Non-Genetic Factors Affecting The Expression Of Covid-19-Relevant Genes In The Large Airway Epithelium, Silva Kasela, Victor E Ortega, Molly Martorella, Suresh Garudadri, Jenna Nguyen, Elizabeth Ampleford, Anu Pasanen, Srilaxmi Nerella, Kristina L Buschur, Igor Z Barjaktarevic, R Graham Barr, Eugene R Bleecker, Russell P Bowler, Alejandro P Comellas, Christopher B Cooper, David J Couper, Gerard J Criner, Jeffrey L Curtis, Meilan K Han, Nadia N Hansel, Eric A Hoffman, Robert J Kaner, Jerry A Krishnan, Fernando J Martinez, Merry-Lynn N Mcdonald, Deborah A Meyers, Robert Paine, Stephen P Peters, Mario Castro, Loren C Denlinger, Serpil C Erzurum, John V Fahy, Elliot Israel, Nizar N Jarjour, Bruce D Levy, Xingnan Li, Wendy C Moore, Sally E Wenzel, Charles Langelier, Prescott G Woodruff, Tuuli Lappalainen, Stephanie A Christenson Apr 2021

Genetic And Non-Genetic Factors Affecting The Expression Of Covid-19-Relevant Genes In The Large Airway Epithelium, Silva Kasela, Victor E Ortega, Molly Martorella, Suresh Garudadri, Jenna Nguyen, Elizabeth Ampleford, Anu Pasanen, Srilaxmi Nerella, Kristina L Buschur, Igor Z Barjaktarevic, R Graham Barr, Eugene R Bleecker, Russell P Bowler, Alejandro P Comellas, Christopher B Cooper, David J Couper, Gerard J Criner, Jeffrey L Curtis, Meilan K Han, Nadia N Hansel, Eric A Hoffman, Robert J Kaner, Jerry A Krishnan, Fernando J Martinez, Merry-Lynn N Mcdonald, Deborah A Meyers, Robert Paine, Stephen P Peters, Mario Castro, Loren C Denlinger, Serpil C Erzurum, John V Fahy, Elliot Israel, Nizar N Jarjour, Bruce D Levy, Xingnan Li, Wendy C Moore, Sally E Wenzel, Charles Langelier, Prescott G Woodruff, Tuuli Lappalainen, Stephanie A Christenson

Faculty, Staff and Student Publications

BACKGROUND: The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual disease courses is hypothesized to be partially mediated by the differential regulation of the genes that interact with the SARS-CoV-2 virus or are involved in the subsequent host response. Here, we comprehensively investigated non-genetic and genetic factors influencing COVID-19-relevant bronchial epithelial gene expression.

METHODS: We analyzed RNA-sequencing data from bronchial epithelial brushings obtained from uninfected individuals. We related ACE2 gene expression to host and environmental factors in the SPIROMICS cohort of smokers with …


Distraction Osteogenesis With Temporal Bone Remodeling For Unicoronal Craniosynostosis, Phuong D Nguyen, Ahmed Belal, George N Washington, Matthew R Greives, David I Sandberg, Stephen A Fletcher, Manish N Shah Apr 2021

Distraction Osteogenesis With Temporal Bone Remodeling For Unicoronal Craniosynostosis, Phuong D Nguyen, Ahmed Belal, George N Washington, Matthew R Greives, David I Sandberg, Stephen A Fletcher, Manish N Shah

Faculty, Staff and Student Publications

Unicoronal craniosynostosis correction with fronto-orbital advancement and cranial vault remodeling has traditionally been the gold standard. Distraction osteogenesis has the advantage of increased size of movement without constriction of the scalp and decreased morbidity. Although fronto-orbital advancement and cranial vault remodeling are usually performed at 6 months of age or later, distraction osteogenesis is performed at a younger age, between 3 and 6 months, to take advantage of the infant bony physiology. Herein, the authors demonstrate a case of distraction osteogenesis for unicoronal craniosynostosis in a 3-month-old female with significant improvement of her orbital, nasal, and frontal symmetry.

The video …


A Machine Learning Compatible Method For Ordinal Propensity Score Stratification And Matching, Thomas J Greene, Stacia M Desantis, Derek W Brown, Anna V Wilkinson, Michael D Swartz Mar 2021

A Machine Learning Compatible Method For Ordinal Propensity Score Stratification And Matching, Thomas J Greene, Stacia M Desantis, Derek W Brown, Anna V Wilkinson, Michael D Swartz

Faculty, Staff and Student Publications

Although machine learning techniques that estimate propensity scores for observational studies with multivalued treatments have advanced rapidly in recent years, the development of propensity score adjustment techniques has not kept pace. While machine learning propensity models provide numerous benefits, they do not produce a single variable balancing score that can be used for propensity score stratification and matching. This issue motivates the development of a flexible ordinal propensity scoring methodology that does not require parametric assumptions for the propensity model. The proposed method fits a one-parameter power function to the cumulative distribution function (CDF) of the generalized propensity score (GPS) …


In Vivo Transplantation Of Human Intestinal Organoids Enhances Select Tight Junction Gene Expression, Mariaelena A Boyle, David J Sequeira, Eoin P Mcneill, Zachary K Criss, Noah F Shroyer, Allison L Speer Mar 2021

In Vivo Transplantation Of Human Intestinal Organoids Enhances Select Tight Junction Gene Expression, Mariaelena A Boyle, David J Sequeira, Eoin P Mcneill, Zachary K Criss, Noah F Shroyer, Allison L Speer

Faculty, Staff and Student Publications

BACKGROUND: Short bowel syndrome is a potentially fatal condition with inadequate management options. Tissue-engineered small intestine (TESI) is a promising solution, but confirmation of TESI function will be crucial before human application. We sought to define intestinal epithelial barrier function in human intestinal organoid (HIO)-derived TESI.

MATERIALS AND METHODS: HIOs were generated in vitro from human embryonic stem cells. After 1 mo, HIOs were collected for analysis or transplanted into the kidney capsule of immunocompromised mice. Transplanted HIOs (tHIOs) were harvested for analysis at 4 or 8 wk. Reverse transcription quantitative polymerase chain reaction and immunofluorescent staining were performed for …


Does Hand Involvement In Systemic Sclerosis Limit Completion Of Patient-Reported Outcome Measures?, Tracy M Frech, John M Vanburen, Emily Startup, Shervin Assassi, Elana J Bernstein, Flavia V Castelino, Lorinda Chung, Chase Correia, Jessica K Gordon, Faye N Hant, Laura Hummers, Dinesh Khanna, Nora Sandorfi, Ami A Shah, Victoria K Shanmugam, Virginia Steen, Luke Evnin Mar 2021

Does Hand Involvement In Systemic Sclerosis Limit Completion Of Patient-Reported Outcome Measures?, Tracy M Frech, John M Vanburen, Emily Startup, Shervin Assassi, Elana J Bernstein, Flavia V Castelino, Lorinda Chung, Chase Correia, Jessica K Gordon, Faye N Hant, Laura Hummers, Dinesh Khanna, Nora Sandorfi, Ami A Shah, Victoria K Shanmugam, Virginia Steen, Luke Evnin

Faculty, Staff and Student Publications

The objective of this analysis is to examine whether the severity of systemic sclerosis (SSc)-hand involvement influences patient-reported outcome measure (PROM) completion rate in a US cohort of early disease. Participants included SSc patients with less than 5 years disease duration consented and enrolled in the Collaborative, National, Quality, and Efficacy Registry (CONQUER) between June 2018 and December 2019. Participants' socio-demographics, hand clinical features (severe modified Rodnan skin score, presence of small joint contractures, acro-osteolysis, calcinosis, and digital ulcers), and completion rates of seven PROMs including a Resource Use Questionnaire were analyzed. Cohort characteristics and baseline PROM completion were evaluated. …


Bax 335 Hemophilia B Gene Therapy Clinical Trial Results: Potential Impact Of Cpg Sequences On Gene Expression, Barbara A Konkle, Christopher E Walsh, Miguel A Escobar, Neil C Josephson, Guy Young, Annette Von Drygalski, Scott W J Mcphee, R Jude Samulski, Ivan Bilic, Maurus De La Rosa, Birgit M Reipert, Hanspeter Rottensteiner, Friedrich Scheiflinger, John C Chapin, Bruce Ewenstein, Paul E Monahan Feb 2021

Bax 335 Hemophilia B Gene Therapy Clinical Trial Results: Potential Impact Of Cpg Sequences On Gene Expression, Barbara A Konkle, Christopher E Walsh, Miguel A Escobar, Neil C Josephson, Guy Young, Annette Von Drygalski, Scott W J Mcphee, R Jude Samulski, Ivan Bilic, Maurus De La Rosa, Birgit M Reipert, Hanspeter Rottensteiner, Friedrich Scheiflinger, John C Chapin, Bruce Ewenstein, Paul E Monahan

Faculty, Staff and Student Publications

Gene therapy has the potential to maintain therapeutic blood clotting factor IX (FIX) levels in patients with hemophilia B by delivering a functional human F9 gene into liver cells. This phase 1/2, open-label dose-escalation study investigated BAX 335 (AskBio009, AAV8.sc-TTR-FIXR338Lopt), an adeno-associated virus serotype 8 (AAV8)-based FIX Padua gene therapy, in patients with hemophilia B. This report focuses on 12-month interim analyses of safety, pharmacokinetic variables, effects on FIX activity, and immune responses for dosed participants. Eight adult male participants (aged 20-69 years; range FIX activity, 0.5% to 2.0%) received 1 of 3 BAX 335 IV doses: 2.0 × 1011; …


Absent B Cells, Agammaglobulinemia, And Hypertrophic Cardiomyopathy In Folliculin-Interacting Protein 1 Deficiency, Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C Orellana, Grazia Fazio, Fred H Rodriguez, Loreani P Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G M Kroes, Daniele Moratto, Monique M Van Oostaijen-Ten Dam, Frank Baas, Silvère Van Der Maarel, Rocco Piazza, Zeynep H Coban-Akdemir, James R Lupski, Bo Yuan, Ivan K Chinn, Lucia Daxinger, Andrea Biondi Jan 2021

Absent B Cells, Agammaglobulinemia, And Hypertrophic Cardiomyopathy In Folliculin-Interacting Protein 1 Deficiency, Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C Orellana, Grazia Fazio, Fred H Rodriguez, Loreani P Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G M Kroes, Daniele Moratto, Monique M Van Oostaijen-Ten Dam, Frank Baas, Silvère Van Der Maarel, Rocco Piazza, Zeynep H Coban-Akdemir, James R Lupski, Bo Yuan, Ivan K Chinn, Lucia Daxinger, Andrea Biondi

Faculty, Staff and Student Publications

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy …


The Effects Of Combined Transcranial Brain Stimulation And A 4-Week Visuomotor Stepping Training On Voluntary Step Initiation In Persons With Chronic Stroke-A Pilot Study, Ira H Gewolb, Babatunde T Sobowale, Frank L Vice, Abhijit Patwardhan, Nino Solomonia, Eric W Reynolds Jan 2021

The Effects Of Combined Transcranial Brain Stimulation And A 4-Week Visuomotor Stepping Training On Voluntary Step Initiation In Persons With Chronic Stroke-A Pilot Study, Ira H Gewolb, Babatunde T Sobowale, Frank L Vice, Abhijit Patwardhan, Nino Solomonia, Eric W Reynolds

Faculty, Staff and Student Publications

Background: Suck-swallow rhythmicity and the integration of breathing into infant feeding are developmentally regulated. Neurological injury and breathing abnormalities can both impact feeding in preterm infants.

Objective: To determine the effects of neurologic injury independent of effects of disordered breathing on feeding biorhythms in premature infants.

Methods: Low-risk preterm infants (LRP), infants with Grade 3–4 Intraventricular Hemorrhage (IVH), those with bronchopulmonary dysplasia (BPD), and those with both BPD and IVH (BPD+IVH) were identified. Forty-seven infants, 32–42 weeks Postmenstrual Age (PMA) were evaluated on one or more occasions (131 studies). Of these, 39 infants (81 studies) were performed at >35 weeks …


A Comparison Of Exhaustive And Non-Lattice-Based Methods For Auditing Hierarchical Relations In Gene Ontology, Rashmie Abeysinghe, Fengbo Zheng, Licong Cui Jan 2021

A Comparison Of Exhaustive And Non-Lattice-Based Methods For Auditing Hierarchical Relations In Gene Ontology, Rashmie Abeysinghe, Fengbo Zheng, Licong Cui

Faculty, Staff and Student Publications

Uncovering and fixing errors in biomedical terminologies is essential so that they provide accurate knowledge to downstream applications that rely on them. Non-lattice-based methods have been applied to identify various kinds of inconsistencies in different biomedical terminologies. In previous work, we have introduced two inference-based approaches that were applied in an exhaustive manner to audit hierarchical relations in the Gene Ontology: (1) Lexical-based inference framework, and (2) Subsumption-based sub-term inference framework. However, it is unclear how effective these exhaustive approaches perform compared with their corresponding non-lattice-based approaches. Therefore, in this paper, we implement the non-lattice versions of these two exhaustive …


Towards Digestible Digital Health Solutions: Application Of A Health Literacy Inclusive Development Framework For Peripartum Depression Management, Alexandra Zingg, Tavleen Singh, Sahiti Myneni Jan 2021

Towards Digestible Digital Health Solutions: Application Of A Health Literacy Inclusive Development Framework For Peripartum Depression Management, Alexandra Zingg, Tavleen Singh, Sahiti Myneni

Faculty, Staff and Student Publications

Women of low income and education have lower levels of peripartum depression (PPD) literacy, limiting their ability to recognize symptoms and make informed healthcare decisions. Existing digital solutions and underlying development frameworks for PPD lack an integrative approach addressing health literacy and related disparities. Therefore, we develop an integrative framework for digital content engineering in PPD self-management consisting of (a) user needs analysis, (b) inclusion of eHealth literacy principles (science and health literacy), and (c) mapping user needs to the Behavioral Intervention Technology model. Results revealed that perinatal women seeking mental health care prefer information in multisensory formats, and knowledge …


Examining Social Vulnerability And The Association With Covid-19 Incidence In Harris County, Texas, Guillermo A Tortolero, Marcia De Oliveira Otto, Ryan Ramphul, Jose-Miguel Yamal, Alison Rector, Michael Brown, Melissa F Peskin, Dania Mofleh, Eric Boerwinkle Jan 2021

Examining Social Vulnerability And The Association With Covid-19 Incidence In Harris County, Texas, Guillermo A Tortolero, Marcia De Oliveira Otto, Ryan Ramphul, Jose-Miguel Yamal, Alison Rector, Michael Brown, Melissa F Peskin, Dania Mofleh, Eric Boerwinkle

Faculty, Staff and Student Publications

Studies have investigated the association between social vulnerability and SARS-CoV-2 incidence. However, few studies have examined small geographic units such as census tracts, examined geographic regions with large numbers of Hispanic and Black populations, controlled for testing rates, and incorporated stay-at-home measures into their analyses. Understanding the relationship between social vulnerability and SARS-CoV-2 incidence is critical to understanding the interplay between social determinants and implementing risk mitigation guidelines to curtail the spread of infectious diseases. The objective of this study was to examine the relationship between CDC's Social Vulnerability Index (SVI) and SARS-CoV-2 incidence while controlling for testing rates and …


Developing And Evaluating A Quality Improvement Intervention To Facilitate Patient Navigation In The Accountable Health Communities Model, Jennifer L Holcomb, Gretchen H Walton, Itunu O Sokale, Gayla M Ferguson, Vanessa R Schick, Linda Highfield Jan 2021

Developing And Evaluating A Quality Improvement Intervention To Facilitate Patient Navigation In The Accountable Health Communities Model, Jennifer L Holcomb, Gretchen H Walton, Itunu O Sokale, Gayla M Ferguson, Vanessa R Schick, Linda Highfield

Faculty, Staff and Student Publications

Introduction: The Accountable Health Communities (AHC) Model was designed to address the health-related social needs of Centers for Medicare & Medicaid Services beneficiaries. Bridge organizations across the AHC Model have identified lack of technical assistance and peer planning as potential barriers to Model success, particularly around patient navigation. The technical assistance and peer planning literature lacks an organizing, conceptual framework, but implementation science frameworks could serve as useful guides. The Strengthening Peer AHC Navigation (SPAN) research protocol seeks to fill this gap and will apply three implementation science frameworks, Consolidated Framework for Implementation Research, Intervention Mapping, and the Expert Recommendations …


Determination Of Optimal Deployment Strategy For Reboa In Patients With Non-Compressible Hemorrhage Below The Diaphragm, Nicholas L Johnson, Charles E Wade, Erin E Fox, David E Meyer, Charles J Fox, Ernest E Moore, Jonathan Morrison, Thomas Scalea, Eileen M Bulger, Kenji Inaba, Bryan C Morse, Laura J Moore Jan 2021

Determination Of Optimal Deployment Strategy For Reboa In Patients With Non-Compressible Hemorrhage Below The Diaphragm, Nicholas L Johnson, Charles E Wade, Erin E Fox, David E Meyer, Charles J Fox, Ernest E Moore, Jonathan Morrison, Thomas Scalea, Eileen M Bulger, Kenji Inaba, Bryan C Morse, Laura J Moore

Faculty, Staff and Student Publications

BACKGROUND: Non-compressible truncal hemorrhage (NCTH) is the leading cause of preventable death after trauma. Resuscitative endovascular balloon occlusion of the aorta (REBOA) achieves temporary hemorrhage control, supporting cardiac and cerebral perfusion prior to definitive hemostasis. Aortic zone selection algorithms vary among institutions. We evaluated the efficacy of an algorithm for REBOA use.

METHODS: A multicenter prospective, observational study conducted at six level 1 trauma centers over 12 months. Inclusion criteria were age >15 years with evidence of infradiaphragmatic NCTH needing emergent hemorrhage control within 60 min of ED arrival. An algorithm characterized by the results of focused assessment with sonography …


Determining Risk Factors That Affect Progression In Patients With Nonproliferative Diabetic Retinopathy, Dalbert J Chen, Jacky C Kuo, Alex J Wright, Alice Z Chuang, Wenyaw Chan, Robert M Feldman, Eric L Crowell Jan 2021

Determining Risk Factors That Affect Progression In Patients With Nonproliferative Diabetic Retinopathy, Dalbert J Chen, Jacky C Kuo, Alex J Wright, Alice Z Chuang, Wenyaw Chan, Robert M Feldman, Eric L Crowell

Faculty, Staff and Student Publications

PURPOSE: to determine risk factors that affect nonproliferative diabetic retinopathy (NPDR) progression and establish a predictive model to estimate the probability of and time to progression in NPDR.

RESULTS: Two hundred thirty patients were included. Initially, 65 eyes (28.3%) had no retinopathy; 73 (31.7%) mild NPDR; 60 (26.1%) moderate NPDR; and 32 (13.9%) severe NPDR. Patients were followed for a mean of 5.8 years (±2.0 years; range 2.1-9.4 years). 164 (71.3%) eyes progressed during the follow-up. Time-independent risk factors affecting progression rate were age (hazard ratio (HR) = 0.99,

CONCLUSION: HbA1c level is a significant modifiable risk factor in controlling …


Subgingival Microbiome And Specialized Pro-Resolving Lipid Mediator Pathway Profiles Are Correlated In Periodontal Inflammation, Chun-Teh Lee, Ruoxing Li, Lisha Zhu, Gena D Tribble, W Jim Zheng, Brittney Ferguson, Krishna Rao Maddipati, Nikola Angelov, Thomas E Van Dyke Jan 2021

Subgingival Microbiome And Specialized Pro-Resolving Lipid Mediator Pathway Profiles Are Correlated In Periodontal Inflammation, Chun-Teh Lee, Ruoxing Li, Lisha Zhu, Gena D Tribble, W Jim Zheng, Brittney Ferguson, Krishna Rao Maddipati, Nikola Angelov, Thomas E Van Dyke

Faculty, Staff and Student Publications

Failure of resolution pathways in periodontitis is reflected in levels of specialized pro-resolving lipid mediators (SPMs) and SPM pathway markers but their relationship with the subgingival microbiome is unclear. This study aimed to analyze and integrate lipid mediator level, SPM receptor gene expression and subgingival microbiome data in subjects with periodontitis vs. healthy controls. The study included 13 periodontally healthy and 15 periodontitis subjects that were evaluated prior to or after non-surgical periodontal therapy. Samples of gingival tissue and subgingival plaque were collected prior to and 8 weeks after non-surgical treatment; only once in the healthy group. Metabololipidomic analysis was …


Structural Racism And Immigrant Health: Exploring The Association Between Wage Theft, Mental Health, And Injury Among Latino Day Laborers, Maria Eugenia Fernández-Esquer, Lynn N Ibekwe, Rosalia Guerrero-Luera, Yesmel A King, Casey P Durand, John S Atkinson Jan 2021

Structural Racism And Immigrant Health: Exploring The Association Between Wage Theft, Mental Health, And Injury Among Latino Day Laborers, Maria Eugenia Fernández-Esquer, Lynn N Ibekwe, Rosalia Guerrero-Luera, Yesmel A King, Casey P Durand, John S Atkinson

Faculty, Staff and Student Publications

BACKGROUND: Although wage theft has been discussed primarily as a labor and human rights issue, it can be conceptualized as an issue of structural racism with important consequences for immigrant health.

OBJECTIVES: The objectives of this study were to: 1) identify sociodemographic, employment, and stress-related characteristics that increase Latino day laborers' odds of experiencing wage theft; 2) assess the association between wage theft and serious work-related injury; 3) assess the association between wage theft and three indicators of mental health-depression, social isolation, and alcohol use-as a function of wage theft; and 4) assess serious work-related injury as a function of …


Applying Machine Learning Approaches To Suicide Prediction Using Healthcare Data: Overview And Future Directions, Edwin D Boudreaux, Elke Rundensteiner, Feifan Liu, Bo Wang, Celine Larkin, Emmanuel Agu, Samiran Ghosh, Joshua Semeter, Gregory Simon, Rachel E Davis-Martin Jan 2021

Applying Machine Learning Approaches To Suicide Prediction Using Healthcare Data: Overview And Future Directions, Edwin D Boudreaux, Elke Rundensteiner, Feifan Liu, Bo Wang, Celine Larkin, Emmanuel Agu, Samiran Ghosh, Joshua Semeter, Gregory Simon, Rachel E Davis-Martin

Faculty, Staff and Student Publications

Objective: Early identification of individuals who are at risk for suicide is crucial in supporting suicide prevention. Machine learning is emerging as a promising approach to support this objective. Machine learning is broadly defined as a set of mathematical models and computational algorithms designed to automatically learn complex patterns between predictors and outcomes from example data, without being explicitly programmed to do so. The model's performance continuously improves over time by learning from newly available data.

Method: This concept paper explores how machine learning approaches applied to healthcare data obtained from electronic health records, including billing and claims data, can …


Deep Learning For Automated Analysis Of Cellular And Extracellular Components Of The Foreign Body Response In Multiphoton Microscopy Images, Mattia Sarti, Maria Parlani, Luis Diaz-Gomez, Antonios G Mikos, Pietro Cerveri, Stefano Casarin, Eleonora Dondossola Jan 2021

Deep Learning For Automated Analysis Of Cellular And Extracellular Components Of The Foreign Body Response In Multiphoton Microscopy Images, Mattia Sarti, Maria Parlani, Luis Diaz-Gomez, Antonios G Mikos, Pietro Cerveri, Stefano Casarin, Eleonora Dondossola

Faculty, Staff and Student Publications

The Foreign body response (FBR) is a major unresolved challenge that compromises medical implant integration and function by inflammation and fibrotic encapsulation. Mice implanted with polymeric scaffolds coupled to intravital non-linear multiphoton microscopy acquisition enable multiparametric, longitudinal investigation of the FBR evolution and interference strategies. However, follow-up analyses based on visual localization and manual segmentation are extremely time-consuming, subject to human error, and do not allow for automated parameter extraction. We developed an integrated computational pipeline based on an innovative and versatile variant of the U-Net neural network to segment and quantify cellular and extracellular structures of interest, which is …


Prevalence And Correlates Of Sex Selling And Sex Purchasing Among Adults Seeking Treatment For Cocaine Use Disorder, Emma C Lathan, Judy H Hong, Angela M Heads, Nicholas C Borgogna, Joy M Schmitz Jan 2021

Prevalence And Correlates Of Sex Selling And Sex Purchasing Among Adults Seeking Treatment For Cocaine Use Disorder, Emma C Lathan, Judy H Hong, Angela M Heads, Nicholas C Borgogna, Joy M Schmitz

Faculty, Staff and Student Publications

Exchange sex places individuals with cocaine use disorder (CUD) at particularly high risk for deleterious safety and health outcomes. A substance use treatment provider who is aware of a patient's exchange sex behavior is better able to provide appropriate screening, care, and/or referral to risk reduction services. However, little is known about exchange sex, especially purchasing, among treatment-seeking adults with CUD. The current study examined the prevalence and correlates of sex selling and sex purchasing among treatment-seeking men and women with CUD (


A Preliminary Dti Tractography Study Of Developmental Neuroplasticity 5–15 Years After Early Childhood Traumatic Brain Injury, Elisabeth A Wilde, Ilirjana Hyseni, Hannah M Lindsey, Jessica Faber, James M Mchenry, Erin D Bigler, Brian D Biekman, Laura L Hollowell, Stephen R Mccauley, Jill V Hunter, Linda Ewing-Cobbs, Mary E Aitken, Marianne Macleod, Zili D Chu, Linda J Noble-Haeusslein, Harvey S Levin Jan 2021

A Preliminary Dti Tractography Study Of Developmental Neuroplasticity 5–15 Years After Early Childhood Traumatic Brain Injury, Elisabeth A Wilde, Ilirjana Hyseni, Hannah M Lindsey, Jessica Faber, James M Mchenry, Erin D Bigler, Brian D Biekman, Laura L Hollowell, Stephen R Mccauley, Jill V Hunter, Linda Ewing-Cobbs, Mary E Aitken, Marianne Macleod, Zili D Chu, Linda J Noble-Haeusslein, Harvey S Levin

Faculty, Staff and Student Publications

Plasticity is often implicated as a reparative mechanism when addressing structural and functional brain development in young children following traumatic brain injury (TBI); however, conventional imaging methods may not capture the complexities of post-trauma development. The present study examined the cingulum bundles and perforant pathways using diffusion tensor imaging (DTI) in 21 children and adolescents (ages 10-18 years) 5-15 years after sustaining early childhood TBI in comparison with 19 demographically-matched typically-developing children. Verbal memory and executive functioning were also evaluated and analyzed in relation to DTI metrics. Beyond the expected direction of quantitative DTI metrics in the TBI group, we …


Can Erythropoietin Reduce Hypoxemic Neurological Damages In Neonates With Congenital Heart Defects?, Sara Ottolenghi, Giuseppina Milano, Michele Dei Cas, Tina O Findley, Rita Paroni, Antonio F Corno Jan 2021

Can Erythropoietin Reduce Hypoxemic Neurological Damages In Neonates With Congenital Heart Defects?, Sara Ottolenghi, Giuseppina Milano, Michele Dei Cas, Tina O Findley, Rita Paroni, Antonio F Corno

Faculty, Staff and Student Publications

Congenital heart defects (CHD), the most common cause of birth defects with increasing birth prevalence, affect nearly 1% of live births worldwide. Cyanotic CHD are characterized by hypoxemia, with subsequent reduced oxygen delivery to the brain, especially critical during brain development, beginning in the fetus and continuing through the neonatal period. Therefore, neonates with CHD carry a high risk for neurological comorbidities, even more frequently when there are associated underlying genetic disorders. We review the currently available knowledge on potential prevention strategies to reduce brain damage induced by hypoxemia during fetal development and immediately after birth, and the role of …