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Articles 48271 - 48300 of 1791766
Full-Text Articles in Entire DC Network
Graft: Graph-Augmented Framework With Vision Transformers For Multi-Label Classification, Ghazaleh Mirzaee
Graft: Graph-Augmented Framework With Vision Transformers For Multi-Label Classification, Ghazaleh Mirzaee
Graduate Theses, Dissertations, and Problem Reports (ETD)
Multi-label classification of thoracic diseases from chest X-ray images poses a distinctive challenge: patients rarely present with a single isolated pathology, and automated systems must identify multiple co-occurring conditions simultaneously from a single radiograph. Standard classification architectures treat each disease label as an independent binary decision, failing to capture the statistical co-occurrence patterns, spatial anatomical relationships, and visual feature similarities that characterize multi-disease presentations in clinical data. Class imbalance and incomplete labels compound these problems. In NIH ChestX-ray14, the rarest pathological class has only 227 training instances, and many co-occurring conditions go unlabeled because radiologists focus their reports on the …
Revival Through Resilience In The Post-Mined Landscape: Demonstrating The Socio-Economic Context Of Appalachia And Exploring How Community Infrastructure And Cultural Tourism Can Be Catalysts For Economic Regeneration In Appalachian Communities, Azita Tasnim Ritu
Graduate Theses, Dissertations, and Problem Reports (ETD)
Post-industrial communities across Appalachia continue to experience economic and environmental challenges following the decline of coal mining and related industries. Towns such as Smithers and Montgomery, West Virginia, reflect these conditions through economic stagnation, population loss, aging infrastructure, and degraded landscapes, creating an urgent need for sustainable redevelopment strategies.
The Appalachian Regional Commission emphasizes economic diversification, infrastructure investment, and community revitalization as critical components for improving regional quality of life. However, many former mining communities continue to struggle with underutilized heritage assets, degraded landscapes, and limited economic alternatives. Cultural landscapes and local identity remain significant but often overlooked resources that …
Process Optimization And Quality Control In Manufacturing Of Frp Composites By Vartm, Mohamed Emadeldin Omar Abdelhadi
Process Optimization And Quality Control In Manufacturing Of Frp Composites By Vartm, Mohamed Emadeldin Omar Abdelhadi
Graduate Theses, Dissertations, and Problem Reports (ETD)
Railroad tank cars, being one of the most used means of transportation of hazardous material across the country, have not been structurally upgraded for a long time. Thus, the Pipeline and Hazardous Materials Safety Administration (PHMSA), a United States Department of Transportation (USDOT) agency, released a rule for safer transportation of highly hazardous and flammable liquids by railroad to enhance the design specifications of both the new and existing tank cars in May 2015. A multifunctional composite jacket is proposed as a new material to structurally enhance the railroad tank cars to withstand any accidents that could happen en route. …
Prediction Of Psychological Alienation From Psychological Capital Among Mothers Of Children With Autism Spectrum Disorder In The Sultanate Of Oman, Azhaar Saif Saud Al Basami, Muna Abdullah Al-Bahrani, Ali Mahdi Kazem
Prediction Of Psychological Alienation From Psychological Capital Among Mothers Of Children With Autism Spectrum Disorder In The Sultanate Of Oman, Azhaar Saif Saud Al Basami, Muna Abdullah Al-Bahrani, Ali Mahdi Kazem
Journal of Educational and Psychological Studies
The aim of the current study is to examine the prediction of psychological alienation through psychological capital, while also measuring the levels of psychological capital and psychological alienation among mothers of children with autism spectrum disorder.”. The study applied a descriptive predictive methodology and the sample consisted of 432 mothers of children with autism spectrum disorder, who were accessed using the convenience sampling method. The Psychological Capital Scale developed by Luthans et al. (2007) and the Psychological Alienation Scale developed by Dean (1961) were used in this study.The study found several results, including the low level of psychological capital among …
Academic Hardiness And Its Relationship With Academic Self-Efficacy Among Secondary Students At Ajloun Governorate From The Hashemite Kingdom Of Jordan, Tahani Abdullah Abuwardeh
Academic Hardiness And Its Relationship With Academic Self-Efficacy Among Secondary Students At Ajloun Governorate From The Hashemite Kingdom Of Jordan, Tahani Abdullah Abuwardeh
Journal of Educational and Psychological Studies
The current study aimed to identify the levels of academic hardiness and academic self-efficacy among secondary school students in Ajloun Governorate in the Hashemite Kingdom of Jordan, and to examine the predictive ability of academic hardiness for academic self-efficacy. The descriptive and predictive approach was used. To achieve the objectives, the academic hardiness scale was developed, and the academic self-efficacy scale, which was used by Abo-Allymoun & AlRabee (2022), was applied. After confirming the validity and reliability of the two scales, they were administered to a sample of (367) students, (177) males and (190) females were selected using the cluster …
From Passive To Powerful: Creating Engaging Resident-As-Teacher Modules, Anna E Rueda, Stephanie V Sherman, Sherita J Love, Glenn C Bridges, Wesley A Mayer, Mark J Harbott, Teri L Turner, Bani M Ratan
From Passive To Powerful: Creating Engaging Resident-As-Teacher Modules, Anna E Rueda, Stephanie V Sherman, Sherita J Love, Glenn C Bridges, Wesley A Mayer, Mark J Harbott, Teri L Turner, Bani M Ratan
Faculty and Staff Publications
Background: We aimed to design, implement, and evaluate three novel institutional resident-as-teacher (RAT) e-modules for postgraduate year (PGY) 1, 2, and 3 and compare them to previously utilized online trainings.
Methods: We utilized PICRAT, a model examining both students' relationship with technology (passive, interactive, creative) and instructors' use of technology (replaces, amplifies, or transforms) to create interactive experiences that amplified teaching methodologies. We compared evaluations of the previous and new trainings with an unpaired t test. New modules were assessed with one-way analysis of variance for specialty-based acceptability and content analysis of two open-ended questions.
Results: Response rates averaged 93.2% …
Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi
Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi
Children’s Nutrition Research Center Staff Publications
Objectives: Bariatric surgery is an effective treatment for severe obesity and associated metabolic comorbidities. Exposure to polyfluoroalkyl substance (PFAS) before bariatric surgery may attenuate improvements in glucose metabolism and explain some of the heterogeneity in post-surgery outcomes.
Design: This is an observational cohort study.
Methods: Adolescents (n = 186) enrolled in the Teen-Longitudinal Assessment of Bariatric Surgery study were included. Eight-PFAS congeners were measured in plasma before surgery. Linear and logistic regressions were used to examine cross-sectional associations between log2-transformed PFAS (ng/mL) and fasting glucose, insulin, hemoglobin A1c (HbA1c), and homeostatic model assessment for insulin resistance (HOMA-IR). Linear mixed …
Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling In Pulmonary Hypertension: Implications For Rna-Based Diagnostics And Therapeutics, Janani Subramaniam, Venkata Jonnakuti, Scott D Collum, Sandra Martineau, Kai-Lieh Huang, Sandra Breuils-Bonnet, Andrea L Frump, Bindu H Akkanti, Jayeshkumar A Patel, Manish K Patel, Ismael Salas De Armas, Isabella N Lefebvre, Rajko Radovancevic, Elvin Blanco, Eric J Wagner, Igor Gregoric, Sriram Nathan, Biswajit Kar, Steeve Provencher, Sebastien Bonnet, François Potus, Hari Krishna Yalamanchili, Harry Karmouty-Quintana
Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling In Pulmonary Hypertension: Implications For Rna-Based Diagnostics And Therapeutics, Janani Subramaniam, Venkata Jonnakuti, Scott D Collum, Sandra Martineau, Kai-Lieh Huang, Sandra Breuils-Bonnet, Andrea L Frump, Bindu H Akkanti, Jayeshkumar A Patel, Manish K Patel, Ismael Salas De Armas, Isabella N Lefebvre, Rajko Radovancevic, Elvin Blanco, Eric J Wagner, Igor Gregoric, Sriram Nathan, Biswajit Kar, Steeve Provencher, Sebastien Bonnet, François Potus, Hari Krishna Yalamanchili, Harry Karmouty-Quintana
Faculty, Staff and Student Publications
Increased pulmonary vascular pressures due to vascular remodeling, elevated vascular resistance, and vasoconstriction characterize Pulmonary Arterial Hypertension (PAH). The narrowing of the pulmonary arteries and obstruction of blood flow increase the Right Ventricular (RV) afterload, forcing the RV to undergo structural and functional changes. While adaptive remodeling leads to RV compensation by maintaining function, maladaptive remodeling leads to RV decompensation, characterized by worsening function and eventual failure. At present, there is no effective treatment for these patients as therapies for left ventricular failure are ineffectual, and there are no therapies specifically targeting the RV. Therefore, there is a clear need …
Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu
Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu
Faculty, Staff and Students Publications
Introduction: Modeling safe sleep in the neonatal intensive care unit (NICU) increases the likelihood that parents will follow these practices after discharge. Many NICU infants are put to sleep unsafely, and unsafe sleep practices are the leading cause of nonnatural death among children locally. We created safe sleep standards for infants older than 32 weeks based on national guidelines: infants should be placed supine in a flat, empty crib and should never be swaddled loosely. We aimed to increase the weekly percentage compliance with safe sleep recommendations from a baseline of 58% (0.58 compliant) to 85% (0.85 compliant) by March …
A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell
A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell
Faculty, Staff and Students Publications
Background: Drug-resistant epilepsy (DRE) impacts at least 30% of pediatric epilepsy patients, adversely affecting neurodevelopment and quality of life, as well as risk of sudden unexplained death in epilepsy (SUDEP). While surgical intervention has proven to be an effective treatment for DRE, disparities in access to surgical care persist. Compared to adults, pediatric patients face unique challenges, including delayed recognition of surgical candidacy, limited access to specialized epilepsy centers, complex care coordination, and socioeconomic barriers.
Summary: This review explores the current state of pediatric epilepsy surgery, highlighting its effectiveness in achieving seizure freedom, improving neurocognitive outcomes, and reducing long-term healthcare …
Sodium Supplementation Algorithm To Promote Growth In Infants Who Are Preterm: Randomized Clinical Trial, Brianna M Liberio, Gregory M Sokol, Hannah Rakow, Kelly Mosesso, Valerie Hole, William W Wong, Shaji K Chacko, Jeffrey L Segar
Sodium Supplementation Algorithm To Promote Growth In Infants Who Are Preterm: Randomized Clinical Trial, Brianna M Liberio, Gregory M Sokol, Hannah Rakow, Kelly Mosesso, Valerie Hole, William W Wong, Shaji K Chacko, Jeffrey L Segar
Faculty, Staff and Students Publications
Objective: Evaluate the effectiveness of an algorithm using urine sodium (Na) concentration to guide dietary Na supplementation compared with standard care to promote growth in infants who are preterm.
Methods: A randomized trial was conducted in 4 neonatal units in Indianapolis, Indiana, involving infants between 250/7 to 296/7 weeks gestation with birthweight > 500 g. Study arms consisted of standard care or use of algorithm beginning at 14 to 17 days postnatal age. The primary outcomes were somatic growth (weight, length, and head circumference) measured by change in Z-score between aged 2 weeks and 36 weeks postmenstrual age (PMA). Secondary outcomes …
Use Of New Tobacco And Nicotine Products As A Harm Reduction Strategy: A Critical Review Of The Evidence, Carlos Andrés Jimenez-Ruiz, José Ignacio De Granda-Orive, Carlos Rábade Castedo, Harold J Farber, Angélica Ocampo, Susana Luhning, Beatriz Raboso-Moreno, Lola Del Puerto-Garcia, Daniel Buljubasich, Manuel Conrado Pacheco-Gallego, José Antonio Castillo-Vizueta, Rosa Mirambeaux-Villalona, Marcos García-Rueda, Juan Antonio Riesco-Miranda, Ángela Ramos-Pinedo, Jaime Signes-Costa, Ledys Blanquicett-Barrios, Eva De Higes-Martinez, Catalina Casillas-Suarez, Concepción Rodríguez-García, Cristina Villar-Laguna, Gloria Francisco-Corral, Esther Pastor-Esplá, Paz Vaquero-Lozano, Francisco Carrion-Valero, Lourdes Cañón-Barroso, Raúl Sandoval-Contreras, Inmaculada Gorordo-Unzueta, Ruth Pitti-Pérez, María Ángeles Muñoz-Vidal, Susana Calvo-Pascual, Eva Cabrera-Cesar, Germán Díaz-Santos, Maribel Cristóbal-Fernández
Use Of New Tobacco And Nicotine Products As A Harm Reduction Strategy: A Critical Review Of The Evidence, Carlos Andrés Jimenez-Ruiz, José Ignacio De Granda-Orive, Carlos Rábade Castedo, Harold J Farber, Angélica Ocampo, Susana Luhning, Beatriz Raboso-Moreno, Lola Del Puerto-Garcia, Daniel Buljubasich, Manuel Conrado Pacheco-Gallego, José Antonio Castillo-Vizueta, Rosa Mirambeaux-Villalona, Marcos García-Rueda, Juan Antonio Riesco-Miranda, Ángela Ramos-Pinedo, Jaime Signes-Costa, Ledys Blanquicett-Barrios, Eva De Higes-Martinez, Catalina Casillas-Suarez, Concepción Rodríguez-García, Cristina Villar-Laguna, Gloria Francisco-Corral, Esther Pastor-Esplá, Paz Vaquero-Lozano, Francisco Carrion-Valero, Lourdes Cañón-Barroso, Raúl Sandoval-Contreras, Inmaculada Gorordo-Unzueta, Ruth Pitti-Pérez, María Ángeles Muñoz-Vidal, Susana Calvo-Pascual, Eva Cabrera-Cesar, Germán Díaz-Santos, Maribel Cristóbal-Fernández
Faculty, Staff and Students Publications
The sale, distribution, and indiscriminate use of new tobacco and nicotine products have multiplied. The most relevant products are: electronic cigarettes (ECs), heated tobacco (HT), and nicotine pouches (NPs). From the tobacco industry and its related health sectors, and even from some health institutions with no clear influence from this industry, the use of all these devices is being promoted as an excellent harm reduction strategy for those conventional tobacco smokers who do not want to or cannot quit smoking. This paper reviewed the lack of scientific evidence of this strategy.
Gender-Specific Behavior Reductions In Spontaneous Locomotive And Rearing In A Rat Model Of Paclitaxel-Induced Peripheral Neuropathy: A Pilot Study, Serena Jiyeon Kim, Kevin Cao, Patrick M Dougherty, Kathleen E Mcdonough, Saba Javed
Gender-Specific Behavior Reductions In Spontaneous Locomotive And Rearing In A Rat Model Of Paclitaxel-Induced Peripheral Neuropathy: A Pilot Study, Serena Jiyeon Kim, Kevin Cao, Patrick M Dougherty, Kathleen E Mcdonough, Saba Javed
Faculty, Staff and Students Publications
Introduction: Chemotherapy-induced peripheral neuropathy (CIPN) from agents like paclitaxel causes sensory loss and functional impairment, with limited treatment options. To better model patient-relevant outcomes, we used open field video tracking in rodents to assess gait, anxiety, and exploratory behavior. This approach provides a more comprehensive assessment of CIPN-related deficits beyond pain responses.
Methods and materials: Adult male and female Sprague Dawley rats were given paclitaxel (Taxol; 24 mg/kg cumulative dose) or a vehicle over 8 days. Their distance traveled, time spent in the center and outer zones of the OF test, and rearing behaviors were recorded using a PhenoTyper 4500 …
Beyond Drugs And Surgery: Superselective Adrenal Artery Embolization Redefines Primary Aldosteronism Management-A Systematic Review And Meta-Analysis, Kimia Darmiani, Mehrad Zare, Alisa Mohebbi, Mohammad Mirza-Aghazadeh-Attari, Mohammad Ghasemi Rad, Afshin Mohammadi
Beyond Drugs And Surgery: Superselective Adrenal Artery Embolization Redefines Primary Aldosteronism Management-A Systematic Review And Meta-Analysis, Kimia Darmiani, Mehrad Zare, Alisa Mohebbi, Mohammad Mirza-Aghazadeh-Attari, Mohammad Ghasemi Rad, Afshin Mohammadi
Faculty, Staff and Students Publications
Background: Primary aldosteronism (PA) is a leading cause of secondary hypertension associated with increased cardiovascular and cerebrovascular risk. Superselective adrenal artery embolization (SAAE) has emerged as a minimally invasive alternative to adrenalectomy and mineralocorticoid receptor antagonists (MRAs). This systematic review and meta-analysis evaluates the efficacy and safety of SAAE in PA management.
Methods: We searched PubMed, Web of Science, Embase, and Cochrane Library through June 2026 for studies enrolling patients with PA treated by SAAE. Outcomes of interest were changes in blood pressure (BP), biochemical markers (serum potassium, aldosterone, renin activity, and aldosterone-to-renin ratio), clinical and biochemical response rates, daily …
Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou
Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou
Duncan NRI Faculty and Staff Publications
Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.
Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Duncan NRI Faculty and Staff Publications
Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Duncan NRI Faculty and Staff Publications
Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.
Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.
Results: Between …
Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske
Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske
Center for Medical Ethics and Health Policy Staff Publications
Organ chips, also known as organ-on-a-chip devices, tissue chips, or microphysiological systems, have emerged over the last decade as a promising translational technology amidst growing concern about the translational crisis between laboratory research and patient bedside. Pointing to high rates of failure between nonhuman animal models and safety and efficacy in humans, organ chips and similar new approach methods have attracted substantial public and private investment. As human-cell-based alternatives to animal models, organ chips promise more predictive, efficient, and ethical platforms for pharmaceutical and toxicity testing. Engineered cultivation systems that enable cells to assemble into tissue-like structures (e.g. kidney, brain, …
Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh
Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh
Center for Medical Ethics and Health Policy Staff Publications
Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream reuse.
Methods: We describe a document analysis study using both qualitative and comparative law analytical approaches to identify the most common categories of clauses from 29 different data access agreements used by human biomedical research consortia globally. We furthermore characterized the legal positions and standard practices for each common element of the agreement and synthesized across them to develop model clauses. A total of 3 discussion sessions were organized virtually to refine the clauses among members …
Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady
Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady
Center for Medical Ethics and Health Policy Staff Publications
Background: Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.
Methods: As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.
Results: Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This might explain recent trends toward the use of government and consortium databases away from private ones. Respondents …
Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski
Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski
Center for Medical Ethics and Health Policy Staff Publications
For patients who are suffering, the bedside presence of a family member can provide comfort, and many people hold that there is moral value in being present with a conscious, suffering patient. Yet what is the moral significance of the absence of family members when a patient is minimally conscious or unconscious and not aware of their absence? Clinicians are often troubled when family members and surrogate decision-makers who are able to spend a significant amount of time at an unconscious, seriously ill patient's bedside do not do so. Clinicians feel frustrated that they must bear the burden of witnessing …
Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin
Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin
Center for Medical Ethics and Health Policy Staff Publications
No abstract provided.
Tau In Alzheimer’S Disease: Shaping The Future Patient Journey, Catherine J Mummery, Christopher Chen Li-Hsian, Cristian A Lasagna-Reeves, Rik Ossenkoppele, Christopher C Rowe, Douglas W Scharre, Huali Wang, Simon Kyaga, Jeffrey L Cummings
Tau In Alzheimer’S Disease: Shaping The Future Patient Journey, Catherine J Mummery, Christopher Chen Li-Hsian, Cristian A Lasagna-Reeves, Rik Ossenkoppele, Christopher C Rowe, Douglas W Scharre, Huali Wang, Simon Kyaga, Jeffrey L Cummings
Faculty, Staff and Students Publications
Alzheimer's disease is a complex and multifactorial disease characterized by two key pathological hallmarks: amyloid-beta plaques and tau neurofibrillary tangles. Recent progress has led to the development and approval of disease-targeted therapies for Alzheimer's disease in the form of anti-amyloid-beta monoclonal antibodies. However, findings suggest that amelioration of multiple pathological drivers may be required to maximize clinical effect. An increasing body of evidence suggests that tau is a critical player in Alzheimer's disease pathophysiology, contributing significantly to neurodegeneration and cognitive decline. There are now several tau-targeting drugs in clinical development. In this review, we build on research and advancements in …
Mir-302 Regulates Pancreatic Progenitor Pool And Pancreatic Size, Ziyue Z Yang, Caroline G Snider, Ronald J Parchem
Mir-302 Regulates Pancreatic Progenitor Pool And Pancreatic Size, Ziyue Z Yang, Caroline G Snider, Ronald J Parchem
Faculty, Staff and Students Publications
Disruptions in pancreatic development can lead to health issues such as pancreatic agenesis and congenital diabetes mellitus. Understanding pancreatic organogenesis is critical for elucidating disease mechanisms and developing regenerative therapies. The pancreas consists of endocrine and exocrine cells, both of which are derived from multipotent progenitor cells (MPCs). MPC proliferation and differentiation are tightly controlled by multiple mechanisms, including post-transcriptional regulation by miRNAs. However, these regulatory factors are not fully understood. Here, we profiled miRNA expression in MPCs and identified that mir-302 was highly enriched during the earliest stages of pancreatic development. Loss of mir-302 resulted in reduced pancreatic size …
Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe
Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe
Faculty, Staff and Students Publications
Deep brain stimulation (DBS) improves motor function in a growing list of movement diseases including Parkinson's disease, dystonia, and tremor. There is evidence that DBS may also be effective in ataxia. It is not known why DBS is effective, but modulating cell activity and conferring neuroprotection are hypothesized to underlie its benefits. Understanding the effects of DBS on neurons is paramount to extending its clinical use in the treatment of various motor and non-motor diseases. Here, we stimulated the cerebellum of Car8 waddles (Car8wdl) mice, given the cerebellum's important role in ataxia pathophysiology. Using transmission electron microscopy, we tested the …
Multi-Omics To Study Chronic Respiratory Diseases And Viral Infections, Sobia Idrees, Hao Chen, Tayyaba Sadaf, Saima Firdous Rehman, Matt D Johansen, Keshav Raj Paudel, Gang Liu, Yuting Wang, Malte D Luecken, Elinor Hortle, Ashleigh S Philp, Kurtis F Budden, Matthew O'Rourke, Gerard E Kaiko, Sionne E M Lucas, Joanne L Dickinson, Peter C Allen, Joseph E Powell, Lai-Ying Zhang, Daniel C Chambers, Tamera Corte, Gaetano Caramori, Maor Sauler, Peter A Wark, Janine Gote-Schniering, Mareike Lehmann, Thomas M Conlon, Theodore S Kapellos, Ali Önder Yildirim, Rosa Faner, Shyamali C Dharmage, Craig E Wheelock, Maarten Van Den Berge, Martijn C Nawijn, Francesca Polverino, Gabrielle T Belz, Sanjay H Chotirmall, Leopoldo N Segal, Alen Faiz, Philip M Hansbro
Multi-Omics To Study Chronic Respiratory Diseases And Viral Infections, Sobia Idrees, Hao Chen, Tayyaba Sadaf, Saima Firdous Rehman, Matt D Johansen, Keshav Raj Paudel, Gang Liu, Yuting Wang, Malte D Luecken, Elinor Hortle, Ashleigh S Philp, Kurtis F Budden, Matthew O'Rourke, Gerard E Kaiko, Sionne E M Lucas, Joanne L Dickinson, Peter C Allen, Joseph E Powell, Lai-Ying Zhang, Daniel C Chambers, Tamera Corte, Gaetano Caramori, Maor Sauler, Peter A Wark, Janine Gote-Schniering, Mareike Lehmann, Thomas M Conlon, Theodore S Kapellos, Ali Önder Yildirim, Rosa Faner, Shyamali C Dharmage, Craig E Wheelock, Maarten Van Den Berge, Martijn C Nawijn, Francesca Polverino, Gabrielle T Belz, Sanjay H Chotirmall, Leopoldo N Segal, Alen Faiz, Philip M Hansbro
Faculty, Staff and Students Publications
Integrating omics layers reveals complex biological systems, unveiling vital insights into chronic respiratory diseases and COVID-19. This holistic approach is crucial for developing more effective treatments and understanding intricate relationships. https://bit.ly/3VKFzJH
Surface Marker Identification To Capture Live Circulating Tumor Cells In Metastatic Triple-Negative Breast Cancer, Bree M Lege, Khushali J Patel, Brendan Panici, Ping Gong, Michael T Lewis, Matthew J Ellis, Chonghui Cheng
Surface Marker Identification To Capture Live Circulating Tumor Cells In Metastatic Triple-Negative Breast Cancer, Bree M Lege, Khushali J Patel, Brendan Panici, Ping Gong, Michael T Lewis, Matthew J Ellis, Chonghui Cheng
Faculty, Staff and Students Publications
Metastatic triple-negative breast cancer (TNBC) is highly aggressive and lacks targeted therapies. Circulating tumor cells (CTC) are invaluable for monitoring metastatic tumor progression and treatment response but are difficult to capture because of their rarity and heterogeneity. Surface-based staining for live CTCs is essential to preserve RNA quality in single cells, but current markers tend to perform poorly on more mesenchymal tumor cells such as TNBCs. To enhance live TNBC CTC detection, we developed a workflow for live CTC capture and single-cell RNA sequencing (scRNA-seq). Using a mouse model of metastatic TNBC, we identified four new CTC surface markers, AHNAK2, …
Lysine Demethylase 4a Is A Centrosome-Associated Protein Required For Centrosome Integrity And Genomic Stability, Pratim Chowdhury, Xiaoli Wang, Richard I Han, Manga Motrapu, Ashley G Boice, Yuya Nakatani, Sofia Vargas-Hernandez, Julia F Love, Claude Chew, Sandra L Grimm, Dereck Mezquita, Frank M Mason, Elisabeth D Martinez, Cristian Coarfa, Cheryl L Walker, Anna-Karin Gustavsson, Ruhee Dere
Lysine Demethylase 4a Is A Centrosome-Associated Protein Required For Centrosome Integrity And Genomic Stability, Pratim Chowdhury, Xiaoli Wang, Richard I Han, Manga Motrapu, Ashley G Boice, Yuya Nakatani, Sofia Vargas-Hernandez, Julia F Love, Claude Chew, Sandra L Grimm, Dereck Mezquita, Frank M Mason, Elisabeth D Martinez, Cristian Coarfa, Cheryl L Walker, Anna-Karin Gustavsson, Ruhee Dere
Faculty, Staff and Students Publications
Centrosomes play a fundamental role in nucleating and organizing microtubules in the cell and are vital for faithful chromosome segregation and maintenance of genomic stability. Loss of structural or functional integrity of centrosomes causes genomic instability and is a driver of oncogenesis. Here we identify lysine demethylase 4A (KDM4A), an epigenetic 'eraser' of chromatin methyl marks, as a centrosome-localized protein, visualized at the nanometer-scale resolution. We additionally uncovered that KDM4A demethylase enzymatic activity is required to maintain centrosome homeostasis and integrity; a previously unknown functionality unlinked to altered expression of genes regulating centrosome number. We find that KDM4A interacts with …
Priced Out Of Treatment: The Exorbitant Cost Of Antiparasitic Drugs In The United States, Cora Alperin, Nhi Nguyen, Megan Duffey, Eva H Clark
Priced Out Of Treatment: The Exorbitant Cost Of Antiparasitic Drugs In The United States, Cora Alperin, Nhi Nguyen, Megan Duffey, Eva H Clark
Faculty, Staff and Students Publications
Parasitic infections are often perceived as diseases of low-resource countries, yet they impose a significant and overlooked burden in the United States—especially among immigrants, low-income individuals, and other marginalized populations. This perspectives article examines the case of Mr. X, a landscaper in Houston diagnosed with neurocysticercosis, who faced unaffordable drug costs despite the availability of effective, off-patent treatments. Through his story, we explore the broader issue of pricing for commonly and not-so-commonly prescribed antiparasitic medications, highlighting the role of systemic market failures, regulatory hurdles, and restrictive assistance programs in limiting access to care. The consequences of incomplete treatment include long-term …
Clinical Factors And Diagnoses Associated With Inappropriate Urine Culture Ordering In Primary Care, Marissa Valentine-King, Barbara W Trautner, Michael A Hansen, Roger Zoorob, Lisa C K Danek, Kenneth Muldrew, Forrest Hudson, Robert L Atmar, Larissa Grigoryan
Clinical Factors And Diagnoses Associated With Inappropriate Urine Culture Ordering In Primary Care, Marissa Valentine-King, Barbara W Trautner, Michael A Hansen, Roger Zoorob, Lisa C K Danek, Kenneth Muldrew, Forrest Hudson, Robert L Atmar, Larissa Grigoryan
Faculty, Staff and Students Publications
Objective: Evaluate the prevalence and risk factors for inappropriately ordered urine cultures in primary care.
Design: Cross-sectional study using chart reviews.
Setting: Two primary care, safety-net clinics in Houston, Texas.
Patients: Non-pregnant adults without a urinary catheter who had a urine culture and a primary care visit between 11/2018 and 3/2020.
Methods: We classified patients lacking physician documentation of the following symptoms as having an inappropriately ordered urine culture: dysuria, frequency, urgency, hematuria, fever, chills, costovertebral angle tenderness, nephrolithiasis, and pain (suprapubic, pelvic, or flank). We extracted patient demographics, visit-related diagnostic codes, past medical history, and urine culture results. Diagnostic …