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Articles 3901 - 3930 of 14919
Full-Text Articles in Medicine and Health Sciences
Bap1 Maintains Hif-Dependent Interferon Beta Induction To Suppress Tumor Growth In Clear Cell Renal Cell Carcinoma., Lauren Langbein, Rayan El Hajjar, Shen He, Eleonora Sementino, Zhijiu Zhong, Wei Jiang, Benjamin E Leiby, Li Li, Robert G Uzzo, Joseph R Testa, Haifeng Yang
Bap1 Maintains Hif-Dependent Interferon Beta Induction To Suppress Tumor Growth In Clear Cell Renal Cell Carcinoma., Lauren Langbein, Rayan El Hajjar, Shen He, Eleonora Sementino, Zhijiu Zhong, Wei Jiang, Benjamin E Leiby, Li Li, Robert G Uzzo, Joseph R Testa, Haifeng Yang
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
BRCA1-associated protein 1 (BAP1) is a deubiquitinase that is mutated in 10-15% of clear cell renal cell carcinomas (ccRCC). Despite the association between BAP1 loss and poor clinical outcome, the critical tumor suppressor function(s) of BAP1 in ccRCC remains unclear. Previously, we found that hypoxia-inducible factor 2α (HIF2α) and BAP1 activate interferon-stimulated gene factor 3 (ISGF3), a transcription factor activated by type I interferons and a tumor suppressor in ccRCC xenograft models. Here, we aimed to determine the mechanism(s) through which HIF and BAP1 regulate ISGF3. We found that in ccRCC cells, loss of the von Hippel-Lindau tumor suppressor (VHL) …
Intracellular Monitoring By Dendritic Cells - A New Way To Stay Informed - From A Simple Scavenger To An Active Gatherer, Christopher Herbst, Larry A Harshyne, Botond Z Igyártó
Intracellular Monitoring By Dendritic Cells - A New Way To Stay Informed - From A Simple Scavenger To An Active Gatherer, Christopher Herbst, Larry A Harshyne, Botond Z Igyártó
Department of Microbiology and Immunology Faculty Papers
Dendritic cells (DCs) are required for the initiation of the adaptive immune response. Their ability to acquire antigens in the periphery is a critical step in this process. DCs express a wide variety of adhesion molecules and possess an extremely fluid plasma membrane that facilitates scavenging the extracellular environment and capturing material like exosomes, apoptotic bodies, and pathogens. Besides these standard routes, the acquisition of antigens by DCs can be further facilitated by tunneling nanotubes, trogocytosis, and gap junctions. However, in this article, we will argue that this is an incomplete picture, as certain observations in the literature cannot be …
Accuracy Of Noninvasive Diagnostic Tests For The Detection Of Significant And Advanced Fibrosis Stages In Nonalcoholic Fatty Liver Disease: A Systematic Literature Review Of The Us Studies, Dhaval Gosalia, Vlad Ratziu, Filip Stanicic, Djurdja Vukicevic, Vladimir Zah, Nadege Gunn, Dina Halegoua-De Marzio, Tram Tran
Accuracy Of Noninvasive Diagnostic Tests For The Detection Of Significant And Advanced Fibrosis Stages In Nonalcoholic Fatty Liver Disease: A Systematic Literature Review Of The Us Studies, Dhaval Gosalia, Vlad Ratziu, Filip Stanicic, Djurdja Vukicevic, Vladimir Zah, Nadege Gunn, Dina Halegoua-De Marzio, Tram Tran
Department of Medicine Faculty Papers
Background: The purpose of this systematic literature review (SLR) was to evaluate the accuracy of noninvasive diagnostic tools in detecting significant or advanced (F2/F3) fibrosis among patients with nonalcoholic fatty liver (NAFL) in the US healthcare context.
Methods: The SLR was conducted in PubMed and Web of Science, with an additional hand search of public domains and citations, in line with the PRISMA statement. The study included US-based original research on diagnostic test sensitivity, specificity and accuracy.
Results: Twenty studies were included in qualitative evidence synthesis. Imaging techniques with the highest diagnostic accuracy in F2/F3 detection and differentiation were magnetic …
Transcriptional Profiles In Olfactory Pathway-Associated Brain Regions Of African Green Monkeys: Associations With Age And Alzheimer’S Disease Neuropathology, Jacob D Negrey, Dorothy L Dobbins, Timothy D Howard, Karin E Borgmann-Winter, C G Hahn, Sergey Kalinin, Douglas L Feinstein, Suzanne Craft, Carol A Shively, Thomas C Register
Transcriptional Profiles In Olfactory Pathway-Associated Brain Regions Of African Green Monkeys: Associations With Age And Alzheimer’S Disease Neuropathology, Jacob D Negrey, Dorothy L Dobbins, Timothy D Howard, Karin E Borgmann-Winter, C G Hahn, Sergey Kalinin, Douglas L Feinstein, Suzanne Craft, Carol A Shively, Thomas C Register
Department of Neuroscience Faculty Papers
Introduction: Olfactory impairment in older individuals is associated with an increased risk of Alzheimer's disease (AD). Characterization of age versus neuropathology-associated changes in the brain olfactory pathway may elucidate processes underlying early AD pathogenesis. Here, we report age versus AD neuropathology-associated differential transcription in four brain regions in the olfactory pathway of 10 female African green monkeys (vervet, Chlorocebus aethiops sabaeus), a well-described model of early AD-like neuropathology.
Methods: Transcriptional profiles were determined by microarray in the olfactory bulb (OB), piriform cortex (PC), temporal lobe white matter (WM), and inferior temporal cortex (ITC). Amyloid beta (Aβ) plaque load in …
Guanylyl Cyclase C As A Diagnostic And Therapeutic Target In Colorectal Cancer, Adi Caspi, Ariana A. Entezari, Madison Crutcher, Adam E. Snook, Scott A. Waldman
Guanylyl Cyclase C As A Diagnostic And Therapeutic Target In Colorectal Cancer, Adi Caspi, Ariana A. Entezari, Madison Crutcher, Adam E. Snook, Scott A. Waldman
Department of Pharmacology and Experimental Therapeutics Faculty Papers
Colorectal cancer remains a major cause of mortality in the USA, despite advances in prevention and screening. Existing therapies focus primarily on generic treatment such as surgical intervention and chemotherapy, depending on disease severity. As personalized medicine and targeted molecular oncology continue to develop as promising treatment avenues, there has emerged a need for effective targets and biomarkers of colorectal cancer. The transmembrane receptor guanylyl cyclase C (GUCY2C) regulates intestinal homeostasis and has emerged as a tumor suppressor. Further, it is universally expressed in advanced metastatic colorectal tumors, as well as other cancer types that arise through intestinal metaplasia. In …
Sensory Adaptive Environment To Enhance Participation In Healthcare For Children With Autism Spectrum Disorder: An Interdisciplinary Design Thinking Approach, Lady Rios-Vega, Otd, Otr/L, Amy Carroll, Otd, Otr/L, Rachel L. Dumont, Otr/L, Dianne Treadwell-Deering, Md, Matthew Fields, Md, Roseann C. Schaaf, Phd, Otr/L, Faota
Sensory Adaptive Environment To Enhance Participation In Healthcare For Children With Autism Spectrum Disorder: An Interdisciplinary Design Thinking Approach, Lady Rios-Vega, Otd, Otr/L, Amy Carroll, Otd, Otr/L, Rachel L. Dumont, Otr/L, Dianne Treadwell-Deering, Md, Matthew Fields, Md, Roseann C. Schaaf, Phd, Otr/L, Faota
Department of Occupational Therapy Posters and Presentations
Introduction/Background
- Participation in healthcare for children diagnosed with Autism Spectrum Disorder (ASD) can be overwhelming resulting in stressful responses safety concerns.¹
- Sensory features impact healthcare participation.
- Up to 84% of individuals with ASD experience atypical sensory features of : - Hyper or hypo reactivity to sensation.²
- Unusual sensory interests in the environment.²
- Poor sensory integration.² - Families may refrain from participation in medical care to prevent negative experiences, contributing to occupational deprivation.¹
- Sensory Adaptive Environments (SAE) may improve participation for autistic persons.1,3,4
The Simulated Café: A Virtually Delivered Pre-Employment Transition Program For Students With Autism, Leah Haller, Otd, Otr/L, Amy Carroll, Otd, Otr/L
The Simulated Café: A Virtually Delivered Pre-Employment Transition Program For Students With Autism, Leah Haller, Otd, Otr/L, Amy Carroll, Otd, Otr/L
Department of Occupational Therapy Posters and Presentations
Introduction
- Fewer than half the young adults diagnosed with autism are employed (Gotham et al., 2015; Chiang, et al, 2013).
- Individuals diagnosed with autism have a higher rate of unemployment compared to those with other disabilities (Buescher et al., 2014).
- Educators of individuals diagnosed with autism stress employment as a desired and measured outcome (Schall et al. 2012).
- Parents of individuals diagnosed with autism rated employment support as the greatest service priority (Neary et al.,2015).
- Individuals diagnosed with autism are 7.36 times more likely to be in paid employment if they receive vocational services (Park & Bouk, 2018).
- In the …
Cannabidiol, ∆9 -Tetrahydrocannabinol, And Metabolites In Human Blood By Volumetric Absorptive Microsampling And Lc-Ms/Ms Following Controlled Administration In Epilepsy Patients, Federica Pigliasco, Sara Malaca, Alfredo Fabrizio Lo Faro, Anastasio Tini, Giuliana Cangemi, Alessia Cafaro, Sebastiano Barco, Antonella Riva, Angelica Pisati, Elisabetta Amadori, Pasquale Striano, Adriano Tagliabracci, Marilyn A. Huestis, Francesco Paolo Busardò
Cannabidiol, ∆9 -Tetrahydrocannabinol, And Metabolites In Human Blood By Volumetric Absorptive Microsampling And Lc-Ms/Ms Following Controlled Administration In Epilepsy Patients, Federica Pigliasco, Sara Malaca, Alfredo Fabrizio Lo Faro, Anastasio Tini, Giuliana Cangemi, Alessia Cafaro, Sebastiano Barco, Antonella Riva, Angelica Pisati, Elisabetta Amadori, Pasquale Striano, Adriano Tagliabracci, Marilyn A. Huestis, Francesco Paolo Busardò
Institute of Emerging Health Professions Faculty Papers
Cannabidiol (CBD) exhibits anti-inflammatory, anxiolytic, antiseizure, and neuroprotective proprieties without addictive or psychotropic side effects, as opposed to Δ9-tetrahydrocannabinol (THC). While recreational cannabis contains higher THC and lower CBD concentrations, medical cannabis contains THC and CBD in different ratios, along with minor phytocannabinoids, terpenes, flavonoids and other chemicals. A volumetric absorptive microsampling (VAMS) method combined with ultra-high-performance liquid chromatography coupled with mass spectrometry in tandem for quantification of CBD, THC and their respective metabolites: cannabidiol-7-oic acid (7-COOH-CBD); 7-hydroxy-cannabidiol (7-OH-CBD); 6-alpha-hydroxy-cannabidiol (6-α-OH-CBD); and 6-beta-hydroxycannabidiol (6-β-OH-CBD); 11- Hydroxy-Δ9-tetrahydrocannabinol (11-OH-THC) and 11-Nor-9-carboxy-Δ9-tetrahydrocannabinol (THCCOOH). After overnight enzymatic glucuronide hydrolysis at 37°C, samples underwent acidic …
Germline Polymorphisms In Mgmt Associated With Temozolomide-Related Myelotoxicity Risk In Patients With Glioblastoma Treated On Nrg Oncology/Rtog 0825, Michael E Scheurer, Renke Zhou, Mark R Gilbert, Melissa L Bondy, Erik P Sulman, Ying Yuan, Yanhong Liu, Elizabeth Vera, Merideth M Wendland, Emad F Youssef, Volker W Stieber, Ritsuko R Komaki, John C Flickinger, Lawrence C. Kenyon, H Ian Robins, Grant K Hunter, Ian R Crocker, Samuel T Chao, Stephanie L Pugh, Terri S Armstrong
Germline Polymorphisms In Mgmt Associated With Temozolomide-Related Myelotoxicity Risk In Patients With Glioblastoma Treated On Nrg Oncology/Rtog 0825, Michael E Scheurer, Renke Zhou, Mark R Gilbert, Melissa L Bondy, Erik P Sulman, Ying Yuan, Yanhong Liu, Elizabeth Vera, Merideth M Wendland, Emad F Youssef, Volker W Stieber, Ritsuko R Komaki, John C Flickinger, Lawrence C. Kenyon, H Ian Robins, Grant K Hunter, Ian R Crocker, Samuel T Chao, Stephanie L Pugh, Terri S Armstrong
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
Background: We sought to identify clinical and genetic predictors of temozolomide-related myelotoxicity among patients receiving therapy for glioblastoma.
Methods: Patients (n = 591) receiving therapy on NRG Oncology/RTOG 0825 were included in the analysis. Cases were patients with severe myelotoxicity (grade 3 and higher leukopenia, neutropenia, and/or thrombocytopenia); controls were patients without such toxicity. A risk-prediction model was built and cross-validated by logistic regression using only clinical variables and extended using polymorphisms associated with myelotoxicity.
Results: 23% of patients developed myelotoxicity (n = 134). This toxicity was first reported during the concurrent phase of therapy for 56 patients; …
Using Knowledge Translation Strategies To Promote Integration Of Evidence Into Practice: Faculty, Fieldwork Educator And Fieldwork Student Partnerships, Amy Carroll, Otd, Otr/L, E. Adel Herge, Otd, Otr/L, Faota
Using Knowledge Translation Strategies To Promote Integration Of Evidence Into Practice: Faculty, Fieldwork Educator And Fieldwork Student Partnerships, Amy Carroll, Otd, Otr/L, E. Adel Herge, Otd, Otr/L, Faota
Department of Occupational Therapy Posters and Presentations
The Research to Practice Gap
The gap between what is known from research and what happens at the point of care continues to be a concern across health care.1,2 Occupational therapists have a positive attitude toward evidence based practice yet actual use of evidence to guide occupational therapy practice is low.3,4
Neurodiversity Inclusive Practices In Higher Education: Using A Needs Assessment To Spur Change Throughout University Systems, Caitlin Rosica, Otd, Amy Carroll, Otd, Otr/L, Lady Rios-Vega, Otd, Roseann C. Schaaf, Phd
Neurodiversity Inclusive Practices In Higher Education: Using A Needs Assessment To Spur Change Throughout University Systems, Caitlin Rosica, Otd, Amy Carroll, Otd, Otr/L, Lady Rios-Vega, Otd, Roseann C. Schaaf, Phd
Department of Occupational Therapy Posters and Presentations
Introduction
- Approximately 50% of autistic people have average or above average intelligence, and growing numbers of autistic young adults attend college.1
- Autistic students experience poor outcomes in college despite being academically well qualified. 34.9% of autistic young adults attempt college within 6 years of high school.2 Of those, approximately 39% will graduate.3
- In higher education, there may be a mismatch in supports needed by autistic students versus supports provided.
- Autistic students report difficulty with sensory overload, mental health concerns, and daily living tasks.4
- The majority of supports for autistic students focus on academics, which is a …
An Interprofessional And International Collaboration To Establish The Content Validity Of The Checklist Of Nicu Caregiver Behaviors, Amy Carroll, Otd, Otr/L, Cecilia Roan, Otd, Otr/L, Michele K. Savin, Dnp, Aprn, Nnp-Bc, Amitava Sengupta, Md, Fnnf, Dch, Micp, Mbbs, Catherine V. Piersol, Phd, Otr/L, Faota
An Interprofessional And International Collaboration To Establish The Content Validity Of The Checklist Of Nicu Caregiver Behaviors, Amy Carroll, Otd, Otr/L, Cecilia Roan, Otd, Otr/L, Michele K. Savin, Dnp, Aprn, Nnp-Bc, Amitava Sengupta, Md, Fnnf, Dch, Micp, Mbbs, Catherine V. Piersol, Phd, Otr/L, Faota
Department of Occupational Therapy Posters and Presentations
Introduction
The World Health Organization estimates that 15 million babies are born pre term every year.1 “Preterm infants have a high risk of cognitive, neuromotor, and neurosensory problems after discharge from the Neonatal Intensive Care Unit (NICU).2 The outcomes associated with pre term birth are influenced by early adverse experiences during critical care in a stressful NICU environment.3
Developmental care (DC) encompasses a broad array of interventions for developing infants which focus on minimizing the stress of the NICU.4 There are a number of approaches associated with DC The Universe of Developmental Care model describes five …
Ipads For Autism A Web Based Professional Learning Community For Teachers To Support Tablet Usage In Autism Classrooms, Emily E. Smith, Otd, Otr/L, Amy Carroll, Otd, Otr/L
Ipads For Autism A Web Based Professional Learning Community For Teachers To Support Tablet Usage In Autism Classrooms, Emily E. Smith, Otd, Otr/L, Amy Carroll, Otd, Otr/L
Department of Occupational Therapy Posters and Presentations
Background and Significance
Since its emergence in 2010 the mobile technology of the iPad has excited both parents and teachers for its potential in the classroom. The portability of networked mobile technologies has helped students of all abilities to discover, influence, and examine knowledge as well as interact with educators and other students across the world.1 While many school students have access to iPads, simply having technology in the school environment does not ensure teachers are ready to use it to their full potential.2 Teachers need sufficient professional development to align knowledge of technology, pedagogy, and learning content. …
Efficacy Of Early Inpatient Rehabilitation Of Post-Covid-19 Survivors: Single-Center Retrospective Analysis, Ning Cao, Jaclyn Barcikowski, Franklin Womble, Bianca Martinez, Yevgeniya Sergeyenko, Jacob H. Koffer, Michael Kwasniewski, Thomas Watanabe, Rui Xiao, Alberto Esquenazi
Efficacy Of Early Inpatient Rehabilitation Of Post-Covid-19 Survivors: Single-Center Retrospective Analysis, Ning Cao, Jaclyn Barcikowski, Franklin Womble, Bianca Martinez, Yevgeniya Sergeyenko, Jacob H. Koffer, Michael Kwasniewski, Thomas Watanabe, Rui Xiao, Alberto Esquenazi
Moss-Magee Rehabilitation Papers
OBJECTIVE: The aim of this study was to understand the demographic, clinical characteristics, and effectiveness of early inpatient rehabilitation of post-COVID survivors.
DESIGN: A single-center retrospective chart review analysis of 100 patients admitted to a newly created acute COVID rehabilitation unit (CORE+) from April to December 2020 was conducted.
RESULTS: The demographic and clinical characteristics and complications of 100 post-COVID patients were reviewed. Functional outcomes of GG Self-care and Mobility Activities Items (Section GG0130 and GG0170) of the Centers for Medicare & Medicaid Services of the Inpatient Rehabilitation Facility Patient Assessment Instrument (Version 3.0) at admission and discharge, prevalence of …
Exploring Community Recreation And Leisure Of Young Adults With Autism, Alexandria Taylor, Otd, Otr/L, Eis, Amy Carroll, Otd, Otr/L
Exploring Community Recreation And Leisure Of Young Adults With Autism, Alexandria Taylor, Otd, Otr/L, Eis, Amy Carroll, Otd, Otr/L
Department of Occupational Therapy Posters and Presentations
Introduction
- Adults with autism participate less in the community compared to adults with other diagnoses (e.g., intellectual disability, emo tional disturbance, and learning disabilities) (Myers et al., 2015; Orsmond et al., 2013).
- Quantitative studies have shown the benefits of participating in recreation and leisure activities for young adults with auti sm (Bishop Fitzpatrick et al., 2017; Garcia Villamisar & Dattilo, 2010; Stacey et al., 2019).
- The use of qualitative research has been recommended to offer a deeper understanding (Stacey et al., 2019).
- The lack of opportunity for young adults with autism to share their experiences and opinions can lead to …
The Socioeconomic Impact On Presentation And Clinical Course Of Celiac Disease, Christopher Cao, Md, Peter Block, Md, Madeline Russell, Md, Justin Robbins, Md, Anthony J. Dimarino, Md, Stephanie Moleski
The Socioeconomic Impact On Presentation And Clinical Course Of Celiac Disease, Christopher Cao, Md, Peter Block, Md, Madeline Russell, Md, Justin Robbins, Md, Anthony J. Dimarino, Md, Stephanie Moleski
Division of Gastroenterology and Hepatology Posters
Introduction
- Celiac Disease (CD) is a chronic autoimmune condition primarily affecting the small intestine.
- CD is triggered by ingestion of gluten and the only effective treatment for CD involves strict and lifelong elimination of dietary gluten.
- Compliance with the gluten free diet (GFD) relies on purchasing gluten-free foods. Studies have shown the cost of a GFD to be from 76% to 518% more expensive than gluten containing counterparts. Because of this, the economic burden that CD patients face may be substantial, placing these patients at high risk for dietary neglect.
- Financial limitation aside, GFD availability also varies by differing neighborhoods, …
Structure Of The Pre-Mrna Leakage 39-Kda Protein Reveals A Single Domain Of Integrated Zf-C3hc And Rsm1 Modules, Hideharu Hashimoto, Daniel H. Ramirez, Ophélie Lautier, Natalie Pawlak, Günter Blobel, Benoît Palancade, Erik W. Debler
Structure Of The Pre-Mrna Leakage 39-Kda Protein Reveals A Single Domain Of Integrated Zf-C3hc And Rsm1 Modules, Hideharu Hashimoto, Daniel H. Ramirez, Ophélie Lautier, Natalie Pawlak, Günter Blobel, Benoît Palancade, Erik W. Debler
Department of Biochemistry and Molecular Biology Faculty Papers
In Saccharomyces cerevisiae, the pre-mRNA leakage 39-kDa protein (ScPml39) was reported to retain unspliced pre-mRNA prior to export through nuclear pore complexes (NPCs). Pml39 homologs outside the Saccharomycetaceae family are currently unknown, and mechanistic insight into Pml39 function is lacking. Here we determined the crystal structure of ScPml39 at 2.5 Å resolution to facilitate the discovery of orthologs beyond Saccharomycetaceae, e.g. in Schizosaccharomyces pombe or human. The crystal structure revealed integrated zf-C3HC and Rsm1 modules, which are tightly associated through a hydrophobic interface to form a single domain. Both zf-C3HC and Rsm1 modules belong to the Zn-containing BIR (Baculovirus IAP …
A Machine Learning Model Of Response To Hypomethylating Agents In Myelodysplastic Syndromes, Nathan Radakovich, David A. Sallman, Rena Buckstein, Andrew Brunner, Amy Dezern, Sudipto Mukerjee, Rami Komrokji, Najla Al-Ali, Jacob Shreve, Yazan Rouphail, Anne Parmentier, Alexandre Mamedov, Mohammed Siddiqui, Yihong Guan, Teodora Kuzmanovic, Metis Hasipek, Babal Jha, Jaroslaw P. Maciejewski, Mikkael A. Sekeres, Aziz Nazha
A Machine Learning Model Of Response To Hypomethylating Agents In Myelodysplastic Syndromes, Nathan Radakovich, David A. Sallman, Rena Buckstein, Andrew Brunner, Amy Dezern, Sudipto Mukerjee, Rami Komrokji, Najla Al-Ali, Jacob Shreve, Yazan Rouphail, Anne Parmentier, Alexandre Mamedov, Mohammed Siddiqui, Yihong Guan, Teodora Kuzmanovic, Metis Hasipek, Babal Jha, Jaroslaw P. Maciejewski, Mikkael A. Sekeres, Aziz Nazha
Department of Medical Oncology Faculty Papers
Hypomethylating agents (HMA) prolong survival and improve cytopenias in individuals with higher-risk myelodysplastic syndrome (MDS). Only 30-40% of patients, however, respond to HMAs, and responses may not occur for more than 6 months after HMA initiation. We developed a model to more rapidly assess HMA response by analyzing early changes in patients’ blood counts. Three institutions’ data were used to develop a model that assessed patients’ response to therapy 90 days after the initiation using serial blood counts. The model was developed with a training cohort of 424 patients from2 institutions and validated on an independent cohort of 90 patients. …
Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott
Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott
Department of Pediatrics Faculty Papers
Motor neuron diseases (MNDs) are neuromuscular disorders where the spinal motor neurons–either the cell bodies themselves or their axons–are the primary cells affected. To date, there are 120 different genes that are lost or mutated in pediatric-onset MNDs. Most of these childhood-onset disorders, aside from spinal muscular atrophy (SMA), lack viable therapeutic options. Previous research on MNDs has focused on understanding the pathobiology of a single, specific gene mutation and targeting therapies to that pathobiology. This reductionist approach has yielded therapeutic options for a specific disorder, in this case SMA. Unfortunately, therapies specific for SMA have not been effective against …
Genetic Conditions Of Short Stature: A Review Of Three Classic Examples, Merlin G Butler, Bradley S Miller, Alicia Romano, Judith L. Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner
Genetic Conditions Of Short Stature: A Review Of Three Classic Examples, Merlin G Butler, Bradley S Miller, Alicia Romano, Judith L. Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner
Department of Pediatrics Faculty Papers
Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. …
Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu
Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu
Student Papers, Posters & Projects
Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with different AAV vectors expressing human N-acetylgalactosamine 6-sulfate sulfatase (GALNS), demonstrated a more robust antibody response in female mice resulting …
Increased Incidence Of Suspected Smoke Inhalation During The Coronavirus Disease 2019 Pandemic: A National Database Study, Theodore E Habarth-Morales, Arturo J. Rios Diaz, Emily Isch, Shreyas Chandragiri, Lucy Qi, Rose Ni, Edward J. Caterson
Increased Incidence Of Suspected Smoke Inhalation During The Coronavirus Disease 2019 Pandemic: A National Database Study, Theodore E Habarth-Morales, Arturo J. Rios Diaz, Emily Isch, Shreyas Chandragiri, Lucy Qi, Rose Ni, Edward J. Caterson
Student Papers, Posters & Projects
The COVID-19 pandemic has forced many Americans to adapt their daily routines. In 2020, there was a significant increase in house fires according to the National Fire Prevention Association (NFPA). The objective of this study was to characterize the changes in suspected smoke inhalations (SSIs) during the first year of the pandemic in the National Emergency Medical Services Information System (NEMSIS). The NEMSIS database was queried for all EMS transports captured between 2017 and 2020. Differences in the incidences of SSIs and fire dispatches in 2020 were estimated using Poisson regression models. There was a 13.4% increase in the incidence …
Gastric Perforation From A Migrating Ventriculoperitoneal Shunt: A Case Report And Review Of Literature, Alessio Scarascia, Elias Atallah, Maria De Abreu Pineda, Robert H. Rosenwasswer, Kevin Judy
Gastric Perforation From A Migrating Ventriculoperitoneal Shunt: A Case Report And Review Of Literature, Alessio Scarascia, Elias Atallah, Maria De Abreu Pineda, Robert H. Rosenwasswer, Kevin Judy
Department of Neurosurgery Faculty Papers
Ventriculoperitoneal (VP) shunts represent a surgical option for patients affected by increased intracranial hypertension when medical management fails or is contraindicated. Complications following implantation include shunt obstruction, infection, over and under drainage, migration or disconnection of the tube, formation of a pseudocyst, and allergy to the silicone tube. We report the case of a 31-year-old woman who presented to the emergency room with nausea and generalized malaise, found to have the distal segment of the VP catheter perforating her gastric wall into the stomach lumen which required surgical intervention. In this report, we describe a rare complication associated with the …
Serum High Mobility Group Box-1 Levels Associated With Cardiovascular Events After Lower Extremity Revascularization: A Prospective Study Of A Diabetic Population, Maria Margherita Rando, Federico Biscetti, Andrea Leonardo Cecchini, Elisabetta Nardella, Maria Anna Nicolazzi, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J Dimuzio, Dario Pitocco, Antonio Gasbarrini, Massimo Massetti, Andrea Flex
Serum High Mobility Group Box-1 Levels Associated With Cardiovascular Events After Lower Extremity Revascularization: A Prospective Study Of A Diabetic Population, Maria Margherita Rando, Federico Biscetti, Andrea Leonardo Cecchini, Elisabetta Nardella, Maria Anna Nicolazzi, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J Dimuzio, Dario Pitocco, Antonio Gasbarrini, Massimo Massetti, Andrea Flex
Department of Surgery Faculty Papers
Background: Peripheral arterial disease (PAD) is one of the most disabling cardiovascular complications of type 2 diabetes mellitus and is indeed associated with a high risk of cardiovascular and limb adverse events. High mobility group box-1 (HMGB-1) is a nuclear protein involved in the inflammatory response that acts as a pro-inflammatory cytokine when released into the extracellular space. HMBG-1 is associated with PAD in diabetic patients. The aim of this study was to evaluate the association between serum HMGB-1 levels and major adverse cardiovascular events (MACE) and major adverse limb events (MALE) after lower-extremity endovascular revascularization (LER) in a group …
Cost-Benefit Analysis Of The Cope Program For Persons Living With Dementia: Toward A Payment Model, Laura T Pizzi, Eric Jutkowitz, Katherine M Prioli, Ember Yiwei Lu, Zachary Babcock, Heather Mcabee-Sevick, Dorothy B Wakefield, Julie Robison, Sheila Molony, Catherine V. Piersol, Laura N Gitlin, Richard H Fortinsky
Cost-Benefit Analysis Of The Cope Program For Persons Living With Dementia: Toward A Payment Model, Laura T Pizzi, Eric Jutkowitz, Katherine M Prioli, Ember Yiwei Lu, Zachary Babcock, Heather Mcabee-Sevick, Dorothy B Wakefield, Julie Robison, Sheila Molony, Catherine V. Piersol, Laura N Gitlin, Richard H Fortinsky
Department of Occupational Therapy Faculty Papers
Background and objectives: There is a critical need for effective interventions to support quality of life for persons living with dementia and their caregivers. Growing evidence supports nonpharmacologic programs that provide care management, disease education, skills training, and support. This cost-benefit analysis examined whether the Care of Persons with Dementia in their Environments (COPE) program achieves cost savings when incorporated into Connecticut's home- and community-based services (HCBS), which are state- and Medicaid-funded.
Research design and methods: Findings are based on a pragmatic trial where persons living with dementia and their caregiver dyads were randomly assigned to COPE with HCBS, or …
External Cephalic Version For A Malpresenting First Twin Before Labor: A Prospective Case Series, Laura Felder, Rebekah Jo Mccurdy, Vincenzo Berghella
External Cephalic Version For A Malpresenting First Twin Before Labor: A Prospective Case Series, Laura Felder, Rebekah Jo Mccurdy, Vincenzo Berghella
Department of Obstetrics and Gynecology Faculty Papers
Background: In twin pregnancies where the presenting twin is not cephalic, cesarean delivery is the standard of care. External cephalic version (ECV) has been used for malpresenting singleton pregnancies with low risk of complications. ECV in twin pregnancies is poorly studied.
Objective: To assess feasibility and report any complications of ECV of a malpresenting twin before labor.
Study design: This is a prospective cohort of twin pregnancies with malpresenting first twin. Inclusion criteria included English or Spanish speaking women. Exclusions included cases where there was a contraindication to vaginal delivery. ECV was performed according to the institutional singleton protocol. Fetal …
Student Satisfaction And Quality Improvement For An Alzheimer’S Virtual Interprofessional Training (Avit) Program, Susan Toth-Cohen, Phd, Otr/L, Jeannette Kates, Phd, Aprn, Agpcnp-Bc, Gnp-Bc, Richard W. Hass, Phd
Student Satisfaction And Quality Improvement For An Alzheimer’S Virtual Interprofessional Training (Avit) Program, Susan Toth-Cohen, Phd, Otr/L, Jeannette Kates, Phd, Aprn, Agpcnp-Bc, Gnp-Bc, Richard W. Hass, Phd
Department of Occupational Therapy Posters and Presentations
Learning Objectives
- Identify key areas of focus for addressing student satisfaction in 3-DVW IPE simulations
- Discuss specific quality improvement strategies targeting student satisfaction and engagement based on the Flexible Learning Model
- Apply findings of the continuous quality improvement (CQI) strategies used in the AVIT 3-D virtual world simulation to their own approaches to CQI for virtual simulations
Presentation And Predictors Of Metastatic Testicular Cancer: A Contemporary Population-Based Analysis, Yash Shah, Hanan Goldberg, Thenappan Chandrasekar
Presentation And Predictors Of Metastatic Testicular Cancer: A Contemporary Population-Based Analysis, Yash Shah, Hanan Goldberg, Thenappan Chandrasekar
Student Papers, Posters & Projects
Introduction
- Testicular cancer (TC) is the most common solid malignancy in males aged 14-44, with incidence rising globally, although there are few established risk factors besides cryptorchidism.
- While 70% of men present with localized TC, 18% have regional spread and 12% have metastases. Moreover, one-third of patients diagnosed with Stage I TC actually have occult metastases.
A Call For Consistent Measurement Across The Social Determinants Of Health Industry Landscape., Ellen T Rudy, Kelsey C Mcnamara, Zachary N Goldberg, Andrew Parker, David B Nash
A Call For Consistent Measurement Across The Social Determinants Of Health Industry Landscape., Ellen T Rudy, Kelsey C Mcnamara, Zachary N Goldberg, Andrew Parker, David B Nash
College of Population Health Faculty Papers
No abstract provided.
Advances In Retinopathy Of Prematurity Imaging, Taku Wakabayashi, Samir N. Patel, J. P. Campbell, Emmanuel Y. Chang, Eric D. Nudleman, Yoshihiro Yonekawa
Advances In Retinopathy Of Prematurity Imaging, Taku Wakabayashi, Samir N. Patel, J. P. Campbell, Emmanuel Y. Chang, Eric D. Nudleman, Yoshihiro Yonekawa
Wills Eye Hospital Papers
Retinopathy of prematurity (ROP) remains the leading cause of childhood blindness worldwide. Recent advances in ROP imaging have significantly improved our understanding of the pathogenesis and pathophysiological course of ROP including the acute phase, regression, reactivation, and late complications, known as adult ROP. Recent progress includes various contact and noncontact wide-field imaging devices for fundus imaging, smartphone-based fundus photography, wide-field fluorescein angiography, handheld optical coherence tomography (OCT) devices for wide-field en face OCT images, and OCT angiography. Images taken by those devices were incorporated in the recently updated guidelines of ROP, the International Classification of Retinopathy of Prematurity, Third Edition …