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Articles 3961 - 3990 of 27572
Full-Text Articles in Entire DC Network
Plasminogen Mutation-Associated Thrombotic Microangiopathy And Role Of Anticoagulation: A Single Institution Case Series, Shreya Agarwal, Nicola Pozzi, Senthil Sukumar, Camila Masias, Anuja Java, Spero Cataland
Plasminogen Mutation-Associated Thrombotic Microangiopathy And Role Of Anticoagulation: A Single Institution Case Series, Shreya Agarwal, Nicola Pozzi, Senthil Sukumar, Camila Masias, Anuja Java, Spero Cataland
Faculty, Staff and Students Publications
Background: Knowledge gaps exist regarding the role of coagulation pathway mutations such as those in the plasminogen (PLG) gene in the pathogenesis of thrombotic microangiopathy (TMA) and treatment outcomes.
Objectives: This study aims to describe the unique phenotypic features of patients with PLG mutations and perform structural mapping of the variants to enhance variant interpretation.
Methods: This was a single-center retrospective study of patients with TMA in whom genetic testing was performed between 2011 and 2023. Data were collected regarding demographics, clinical features at their first presentation, renal outcomes, genetic mutations, and recurrence for those who were found …
The Resilience Of The Human Lungs: Evolution, Smoke, And Disease, Joan B Soriano, Francesca Polverino
The Resilience Of The Human Lungs: Evolution, Smoke, And Disease, Joan B Soriano, Francesca Polverino
Faculty, Staff and Students Publications
No abstract provided.
Molecular Maestro In The Lung: The Sphingolipid Rheostat, Joselyn Rojas-Quintero, Francesca Polverino
Molecular Maestro In The Lung: The Sphingolipid Rheostat, Joselyn Rojas-Quintero, Francesca Polverino
Faculty, Staff and Students Publications
No abstract provided.
An Electronic Trigger To Detect Telemedicine-Related Diagnostic Errors, Daniel R Murphy, Himabindu Kadiyala, Li Wei, Hardeep Singh
An Electronic Trigger To Detect Telemedicine-Related Diagnostic Errors, Daniel R Murphy, Himabindu Kadiyala, Li Wei, Hardeep Singh
Faculty, Staff and Students Publications
Introduction
The COVID-19 pandemic advanced the use of telehealth-facilitated care. However, little is known about how to measure safety of clinical diagnosis made through telehealth-facilitated primary care.Methods
We used the seven-step Safer Dx Trigger Tool framework to develop an electronic trigger (e-trigger) tool to identify potential missed opportunities for more timely diagnosis during primary care telehealth visits at a large Department of Veterans Affairs facility. We then applied the e-trigger algorithm to electronic health record data related to primary care visits during a 1-year period (1 April 2020–31 March 2021). The algorithm identified patients with unexpected visits within 10 …Hemorrhagic Gastropathy From Paclitaxel-Carboplatin Combination Chemotherapy, Kristeen Onyirioha, Maya Balakrishnan
Hemorrhagic Gastropathy From Paclitaxel-Carboplatin Combination Chemotherapy, Kristeen Onyirioha, Maya Balakrishnan
Faculty, Staff and Students Publications
A 58-year-old woman with endometrial cancer started on paclitaxel in combination with carboplatin chemotherapy, presented to the hospital with severe anemia and melena. An esophagogastroduodenoscopy with biopsies revealed diffuse gastric antrum hemorrhagic gastropathy without inflammatory changes. She had recurrent admissions with similar presentations during her chemotherapy. Her management included frequent blood transfusions, endoscopic Argon plasma coagulation to hemorrhagic lesions, and a prolonged course of proton pump inhibition to facilitate post-Argon plasma coagulation mucosal healing. Weeks after completing chemotherapy, her hemoglobin improved and recurrent upper gastrointestinal bleeding resolved. In this case, we identify a rare paclitaxel, in combination with carboplatin, associated …
Use Of Granulocyte-Colony Stimulating Factor For Beta-Lactam Induced Neutropenia In Children With Bacterial Meningitis, Cheng Yu Yen, Sheldon L Kaplan, Debra L Palazzi, Grant Stimes
Use Of Granulocyte-Colony Stimulating Factor For Beta-Lactam Induced Neutropenia In Children With Bacterial Meningitis, Cheng Yu Yen, Sheldon L Kaplan, Debra L Palazzi, Grant Stimes
Faculty, Staff and Students Publications
Drug induced neutropenia is an uncommon but potentially serious side effect in children receiving prolonged β-lactam antibiotic therapy. Management of β-lactam induced neutropenia in children remains challenging and often requires antibiotic therapy interruption or modification. There are limited data in pediatric patients about use of granulocyte-colony stimulating factor (G-CSF) for the treatment of drug induced neutropenia. We report the use of G-CSF for β-lactam induced neutropenia in four pediatric patients between the ages of 3 months and 18 years with bacterial meningitis in this case series.
Data-Driven Approach To Dynamic Resting State Functional Connectivity In Post-Traumatic Stress Disorder: An Enigma-Pgc Ptsd Study, Carissa W Tomas, Jacklynn M Fitzgerald, C Lexi Baird, Courtney C Haswell, Chadi G Abdallah, Michael Angstadt, Justin T Baker, Hannah Berg, Jennifer U Blackford, Josh Cisler, Andrew S Cotton, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Terri A Deroon-Cassini, Seth G Disner, Wissam El Hage, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Xiaofu He, Ryan Herringa, David Hofmann, Ashley A Huggins, Ahmed Hussain, Jonathan Ipser, Neda Jahanshad, Tanja Jovanovic, Milissa L Kaufman, Yoojean Kim, Anthony King, Saskia B J Koch, Sheri Koopowitz, Amit Lazarov, Lauren A M Lebois, Isreal Liberzon, Shmuel Lissek, Antje Manthey, Geoffrey May, Katie A Mclaughlin, Laura Nawijn, Steven M Nelson, Yuval Neria, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Yann Quidé, Orren Ravid, Kerry Ressler, Marisa Ross, Lauren E Salminen, Kelly Sambrook, Chiahao Shih, Anika Sierk, Scott R Sponheim, Dan J Stein, Jennifer Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Paul M Thompson, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Xin Wang, Hong Xie, Xi Zhu, Sigal Zilcha-Mano, Christine L Larson, Rajendra Morey
Data-Driven Approach To Dynamic Resting State Functional Connectivity In Post-Traumatic Stress Disorder: An Enigma-Pgc Ptsd Study, Carissa W Tomas, Jacklynn M Fitzgerald, C Lexi Baird, Courtney C Haswell, Chadi G Abdallah, Michael Angstadt, Justin T Baker, Hannah Berg, Jennifer U Blackford, Josh Cisler, Andrew S Cotton, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Terri A Deroon-Cassini, Seth G Disner, Wissam El Hage, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Xiaofu He, Ryan Herringa, David Hofmann, Ashley A Huggins, Ahmed Hussain, Jonathan Ipser, Neda Jahanshad, Tanja Jovanovic, Milissa L Kaufman, Yoojean Kim, Anthony King, Saskia B J Koch, Sheri Koopowitz, Amit Lazarov, Lauren A M Lebois, Isreal Liberzon, Shmuel Lissek, Antje Manthey, Geoffrey May, Katie A Mclaughlin, Laura Nawijn, Steven M Nelson, Yuval Neria, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Yann Quidé, Orren Ravid, Kerry Ressler, Marisa Ross, Lauren E Salminen, Kelly Sambrook, Chiahao Shih, Anika Sierk, Scott R Sponheim, Dan J Stein, Jennifer Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Paul M Thompson, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Xin Wang, Hong Xie, Xi Zhu, Sigal Zilcha-Mano, Christine L Larson, Rajendra Morey
Faculty, Staff and Students Publications
Using functional magnetic resonance imaging (fMRI), symptoms of posttraumatic stress disorder (PTSD) have been associated with aberrations in brain networks in the absence of a given cognitive demand or task, called resting-state networks. Prior work has focused on disruption in the static functional connectivity (FC) among specific regions constrained by a priori hypotheses. However, dynamic FC, an approach that examines brain network characteristics over time, may provide a more sensitive measure to understand the network properties underlying dysfunction in PTSD. Further, using a data-driven analytic approach may reveal the contribution of other larger network disturbances beyond those revealed by hypothesis-driven …
Sirt5 Inhibition Impairs Mitochondrial Metabolism And Enhances Venetoclax-Induced Elimination Of Acute Myeloid Leukemia Cells, Moran Wang, Ruiqi Zhu, Donald Small, Lan Lin, Li Li, Shengling Ma, Linghui Xia, Shanshan Luo, Wenjuan He, Jianming Yu, Junying Li, Ruowen Wei, Ao Zhang, Wei Shi, Yu Hu
Sirt5 Inhibition Impairs Mitochondrial Metabolism And Enhances Venetoclax-Induced Elimination Of Acute Myeloid Leukemia Cells, Moran Wang, Ruiqi Zhu, Donald Small, Lan Lin, Li Li, Shengling Ma, Linghui Xia, Shanshan Luo, Wenjuan He, Jianming Yu, Junying Li, Ruowen Wei, Ao Zhang, Wei Shi, Yu Hu
Faculty, Staff and Students Publications
Metabolic reprogramming is a key focus of targeted therapies in acute myeloid leukemia (AML). The mitochondrial sirtuin SIRT5 removes succinyl groups from specific lysines and impacts cell metabolism, but its role in AML tumorigenesis has not been extensively explored. A recent study highlighted that SIRT5 regulates AML cell activity by modulating glutamine metabolism, but its molecular targets in AML remain unclear. This study aims to identify the substrates of SIRT5 in AML. It was found that a total of 83 proteins with 121 lysine (K) residues showed increased succinylation after SIRT5 knockdown, as determined by succinylome analysis of MOLM-13 cells. …
Novel Parent Survey Measures Sensory Behaviors Incorporating Sensory Modality And Stimulus Intensity, Connor Yee, Ellie Rather, Sakib Hoque, Joon Lee, Stephanie Marton, Jill Roth, Frederick L Oswald, Kenneth J Nobleza, Ankona Banerjee, Holly Harris, Ariel M Lyons-Warren
Novel Parent Survey Measures Sensory Behaviors Incorporating Sensory Modality And Stimulus Intensity, Connor Yee, Ellie Rather, Sakib Hoque, Joon Lee, Stephanie Marton, Jill Roth, Frederick L Oswald, Kenneth J Nobleza, Ankona Banerjee, Holly Harris, Ariel M Lyons-Warren
Faculty, Staff and Students Publications
Objective: Sensory behaviors are common, clinically relevant features of many neurodevelopmental disorders, including autism. However, existing assessments lack granularity in evaluating hypersensitivity and hyposensitivity, particularly in relation to stimulus intensity. We address this gap with our Sensory Response Questionnaire Phenotyper (SRQP), a parent-questionnaire that comprehensively assesses sensory behaviors across five sensory modalities. The purpose of this study was to validate the SRQP against established tools and assess its efficacy in identifying nuanced sensory processing patterns in children with autism.
Methods: A convenience sample of 317 participants (57 with autism, 260 typically developing) aged 3-17 years were enrolled in a cross-sectional …
Addressing Anxiety And Depression In The Allergy Clinic Through Motivational Interviewing, Brief Cognitive Behavioral Therapy, And Curious Questions, Marylee Verdi, Dominic Candido, Juliette Madan, Jonathan A Bernstein, Don Bukstein, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Julie Wang, Anna Nowak-Wegrzyn, Elissa M Abrams, John Oppenheimer, Alexandra E Conway, Andrew A White, Taylor A Doherty, Richard P Morse, Marcus Shaker
Addressing Anxiety And Depression In The Allergy Clinic Through Motivational Interviewing, Brief Cognitive Behavioral Therapy, And Curious Questions, Marylee Verdi, Dominic Candido, Juliette Madan, Jonathan A Bernstein, Don Bukstein, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Julie Wang, Anna Nowak-Wegrzyn, Elissa M Abrams, John Oppenheimer, Alexandra E Conway, Andrew A White, Taylor A Doherty, Richard P Morse, Marcus Shaker
Faculty, Staff and Students Publications
Allergic diseases, particularly food allergy, can be associated with significant psychosocial impairment. Allergist-immunologists can provide evidence-based information to correct misperceptions and misunderstandings regarding food allergy that may perpetuate cycles of fear and anxiety. Whereas motivational interviewing can be an empathetic approach to empower patients to actualize health goals, cognitive behavioral therapy (CBT) aims to provide disease-state insight to facilitate an understanding of risk that can transform health beliefs and behaviors. Brief CBT is a clinical approach that can help address ineffective management paradigms through conversations that begin with curious questions. In this review, we discuss evidence supporting implementation of an …
Mood And Sleep In Young Adults With Type 1 Diabetes, Samantha A Carreon, Marissa N Baudino, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Siripoom V Mckay, Tricia S Tang, Sara Nowakowski, Ashley M Butler, Sridevi Devaraj, Marisa E Hilliard
Mood And Sleep In Young Adults With Type 1 Diabetes, Samantha A Carreon, Marissa N Baudino, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Siripoom V Mckay, Tricia S Tang, Sara Nowakowski, Ashley M Butler, Sridevi Devaraj, Marisa E Hilliard
Faculty, Staff and Students Publications
Objective: Depression is associated with sleep problems, and both are associated with higher HbA1c in people with type 1 diabetes (T1D). However, little is known about depressed mood and sleep in young adults with T1D. The aims of this secondary analysis were to provide descriptive statistics of multiple aspects of mood and sleep in young adults with T1D and evaluate associations of depressed mood, diabetes distress, and sleep quality and duration.
Methods: At baseline of a behavioral intervention trial, young adults with T1D completed self-report measures of sleep, diabetes distress, and depressive symptoms. We described sleep metrics across racial/ethnic groups …
Privacy In Perspective: Research Participants’ Priorities And Concerns Related To Sharing Data Generated In Human Neuroscience Studies, Christi J Guerrini, Jill O Robinson, Norah L Crossnohere, Mary A Majumder, Kathryn Maxson Jones, Whitney Bash Brooks, Sameer A Sheth, Amy L Mcguire
Privacy In Perspective: Research Participants’ Priorities And Concerns Related To Sharing Data Generated In Human Neuroscience Studies, Christi J Guerrini, Jill O Robinson, Norah L Crossnohere, Mary A Majumder, Kathryn Maxson Jones, Whitney Bash Brooks, Sameer A Sheth, Amy L Mcguire
Faculty, Staff and Students Publications
The societal benefits from sharing and reusing data collected in human neuroscience studies are widely appreciated. However, there are persistent barriers to data sharing as well as privacy concerns related to unauthorized access, misuse, and reidentification of deidentified data. Thus far, few studies have been conducted with neuroscience research participants to understand their data sharing priorities and concerns. We conducted a survey utilizing an experimental design with N=52 participants in neuroscience studies funded by the U.S. National Institutes of Health representing diverse neurotechnologies and health conditions. Respondents prioritized sharing practices that maximize reuse of data to benefit patients and reduce …
Characterization Of Visual Field Loss Over 4 Years In The Rate Of Progression In Ush2a-Related Retinal Degeneration (Rush2a) Study, Jacque L Duncan, Maureen G Maguire, Lee S Mcdaniel, Nicole R Doucet, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Peiyao Cheng, Todd A Durham, Rachel M Huckfeldt, Robert B Hufnagel, K Thiran Jayasundera, Naheed Khan, Brett Malbin, Ramiro S Maldonado, Michel Michaelides, Mark E Pennesi, Christina Y Weng, Alex Zmejkoski, Shobana Aravind, Hiroshi Ishikawa, David G Birch
Characterization Of Visual Field Loss Over 4 Years In The Rate Of Progression In Ush2a-Related Retinal Degeneration (Rush2a) Study, Jacque L Duncan, Maureen G Maguire, Lee S Mcdaniel, Nicole R Doucet, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Peiyao Cheng, Todd A Durham, Rachel M Huckfeldt, Robert B Hufnagel, K Thiran Jayasundera, Naheed Khan, Brett Malbin, Ramiro S Maldonado, Michel Michaelides, Mark E Pennesi, Christina Y Weng, Alex Zmejkoski, Shobana Aravind, Hiroshi Ishikawa, David G Birch
Faculty, Staff and Students Publications
Purpose: To report visual field loss using static perimetry (SP) and kinetic perimetry (KP) over 4 years in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study.
Design: Prospective, observational cohort study.
Subjects, participants, and/or controls: Participants had USH2A-related rod-cone degeneration, visual acuity ≥20/80, and KP III4e ≥10° at baseline in the study eye. Preserved cohorts with baseline visual fields sufficient to detect progression were identified.
Methods: Participants were examined annually through 4 years. Mixed-effects models were used to estimate the annual, standardized rate, and percentage rates of change.
Main outcome measures: SP measures included hill of vision (total: …
Gastrointestinal Infection Before Immune Checkpoint Inhibition Hinders Treatment Efficacy And Increases The Risk Of Colitis, Malek Shatila, Kian Abdul-Baki, Andres Urias Rivera, Kei Takigawa, Irene Jeong-Ah Lee, Andrew Sullivan, Tanvi Gupta, Linfeng Lu, Raakhi Menon, Ayesha Khan, Hamza Salim, Elliot Baerman, Carolina Colli Cruz, Cristina Natha, Varun Vemulapalli, Garrett Coleman, Krishnavathana Varatharajalu, Christopher Fan, Pablo Okhuysen, Anthony J Olszanski, Yan Zhou, Hao Chi Zhang, Mehnaz Shafi, Yinghong Wang
Gastrointestinal Infection Before Immune Checkpoint Inhibition Hinders Treatment Efficacy And Increases The Risk Of Colitis, Malek Shatila, Kian Abdul-Baki, Andres Urias Rivera, Kei Takigawa, Irene Jeong-Ah Lee, Andrew Sullivan, Tanvi Gupta, Linfeng Lu, Raakhi Menon, Ayesha Khan, Hamza Salim, Elliot Baerman, Carolina Colli Cruz, Cristina Natha, Varun Vemulapalli, Garrett Coleman, Krishnavathana Varatharajalu, Christopher Fan, Pablo Okhuysen, Anthony J Olszanski, Yan Zhou, Hao Chi Zhang, Mehnaz Shafi, Yinghong Wang
Faculty, Staff and Students Publications
Background: Gastrointestinal (GI) infections, which often result in or stem from intestinal dysbiosis, can affect the efficacy of immune checkpoint inhibitors (ICIs) and increase the risk of adverse effects, such as colitis. In this study, we explored the impact of GI infections before initiation of ICI therapy on the incidence and severity of immune-mediated colitis (IMC) and survival.
Methods: A single-center, retrospective review including all patients who received ICIs from January 2010 to February 2024 and subsequently developed IMC. Patients were screened for IMC and prior GI infections based on symptoms and stool tests. Patients' demographic, IMC, and GI infection-related …
The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium
The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium
Faculty, Staff and Students Publications
The Psychiatric Genomics Consortium (PGC) has fueled discoveries of common and rare genetic variation contributing to liability to many psychiatric and neurodevelopmental conditions. This narrative review reflects on major findings from the past half decade of research by this international group of investigators in five priority areas: discovery of common variants using GWAS; rare variation and its interplay with polygenic risk; leveraging genetics to go beyond diagnostic boundaries; ascribing functional attributes to genomic discoveries; and developing and implementing processes for data sharing, outreach to various communities, and training. The insights gained in these domains frame the agenda for the next …
Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage
Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage
Faculty, Staff and Students Publications
Background: Various forms of liver disease have been increasingly reported in individuals with urea cycle disorders (UCDs). In this study, we performed the first systematic and standardized histopathological assessment of the prevalence of fibrosis and steatosis in a large sample of hepatic explants and biopsies from individuals with UCDs at two liver transplantation centers.
Methods: Sixty-seven hepatic tissue samples from 66 individuals with UCDs were staged by two pathologists for hepatic fibrosis and steatosis using standard scoring systems at two large liver transplantation centers in the United States. Histopathological findings were correlated with clinical parameters, including UCD type, laboratory parameters, …
Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton
Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton
Faculty, Staff and Students Publications
False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood …
Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann
Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann
Faculty, Staff and Students Publications
Objective: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.
Methods: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.
Results: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …
Author Correction: The Long-Term Effects Of Chemotherapy On Normal Blood Cells, Emily Mitchell, My H Pham, Anna Clay, Rashesh Sanghvi, Nicholas Williams, Sandra Pietsch, Joanne I Hsu, Nina Friesgaard Øbro, Hyunchul Jung, Aditi Vedi, Sarah Moody, Jingwei Wang, Daniel Leonganmornlert, Michael Spencer Chapman, Ellie Dunstone, Anna Santarsieri, Alex Cagan, Heather E Machado, E Joanna Baxter, George Follows, Daniel J Hodson, Ultan Mcdermott, Gary J Doherty, Inigo Martincorena, Laura Humphreys, Krishnaa Mahbubani, Kourosh Saeb Parsy, Koichi Takahashi, Margaret A Goodell, David Kent, Elisa Laurenti, Peter J Campbell, Raheleh Rahbari, Jyoti Nangalia, Michael R Stratton
Author Correction: The Long-Term Effects Of Chemotherapy On Normal Blood Cells, Emily Mitchell, My H Pham, Anna Clay, Rashesh Sanghvi, Nicholas Williams, Sandra Pietsch, Joanne I Hsu, Nina Friesgaard Øbro, Hyunchul Jung, Aditi Vedi, Sarah Moody, Jingwei Wang, Daniel Leonganmornlert, Michael Spencer Chapman, Ellie Dunstone, Anna Santarsieri, Alex Cagan, Heather E Machado, E Joanna Baxter, George Follows, Daniel J Hodson, Ultan Mcdermott, Gary J Doherty, Inigo Martincorena, Laura Humphreys, Krishnaa Mahbubani, Kourosh Saeb Parsy, Koichi Takahashi, Margaret A Goodell, David Kent, Elisa Laurenti, Peter J Campbell, Raheleh Rahbari, Jyoti Nangalia, Michael R Stratton
Faculty, Staff and Student Publications
No abstract provided.
Acquired Resistance In Cancer: Towards Targeted Therapeutic Strategies, Alice Soragni, Erik S Knudsen, Thomas N O'Connor, Cristina E Tognon, Jeffrey W Tyner, Beatrice Gini, Donghwa Kim, Trever G Bivona, Xingxing Zang, Agnieszka K Witkiewicz, David W Goodrich, Dadi Jiang, Seth T Gammon, Christopher D Willey, Paul C Boutros, Vlad C Sandulache, Abdullah A Osman, Jeffrey N Myers, Kamiya Mehla, Pankaj K Singh, Keith S Chan, Hongbo Gao, Himangi Marathe
Acquired Resistance In Cancer: Towards Targeted Therapeutic Strategies, Alice Soragni, Erik S Knudsen, Thomas N O'Connor, Cristina E Tognon, Jeffrey W Tyner, Beatrice Gini, Donghwa Kim, Trever G Bivona, Xingxing Zang, Agnieszka K Witkiewicz, David W Goodrich, Dadi Jiang, Seth T Gammon, Christopher D Willey, Paul C Boutros, Vlad C Sandulache, Abdullah A Osman, Jeffrey N Myers, Kamiya Mehla, Pankaj K Singh, Keith S Chan, Hongbo Gao, Himangi Marathe
Faculty, Staff and Student Publications
Development of acquired therapeutic resistance limits the efficacy of cancer treatments and accounts for therapeutic failure in most patients. How resistance arises, varies across cancer types and differs depending on therapeutic modalities is incompletely understood. Novel strategies that address and overcome the various and complex resistance mechanisms necessitate a deep understanding of the underlying dynamics. We are at a crucial time when innovative technologies applied to patient-relevant tumour models have the potential to bridge the gap between fundamental research into mechanisms and timing of acquired resistance and clinical applications that translate these findings into actionable strategies to extend therapy efficacy. …
Rapid Dissection And Dissociation Of The Mouse Olfactory Epithelium For Single-Nucleus Suspensions, Benjamin D W Belfort, Anthony M Insalaco, Claude C Chew, Johnathan D Jia, Julia Younis, Benjamin R Arenkiel
Rapid Dissection And Dissociation Of The Mouse Olfactory Epithelium For Single-Nucleus Suspensions, Benjamin D W Belfort, Anthony M Insalaco, Claude C Chew, Johnathan D Jia, Julia Younis, Benjamin R Arenkiel
Duncan NRI Faculty and Staff Publications
The murine olfactory epithelium is the initial entry point of the olfactory system, housing various cell types that include olfactory sensory neurons, their regenerating progenitors, and support cells. Olfactory sensory neurons transduce chemical odorants into neural signals, yet the mechanisms underlying how these cells develop and turnover, create synapses with the olfactory bulb, and regulate their odorant receptors remain areas of intense study. Located on the dorsal aspect of the nasal cavity, the olfactory epithelium adheres to intricate bony structures known as turbinates. This anatomy poses unique challenges for its extraction and dissociation, especially in the context of preparing viable …
Community-Engaged Medical Student Elective To Improve Knowledge And Attitudes Toward Individuals With Intellectual And Developmental Disabilities, Kathryn J Kemere, Nital Appelbaum, Priya Chandan, Elisha Acosta
Community-Engaged Medical Student Elective To Improve Knowledge And Attitudes Toward Individuals With Intellectual And Developmental Disabilities, Kathryn J Kemere, Nital Appelbaum, Priya Chandan, Elisha Acosta
Faculty, Staff and Students Publications
Individuals with intellectual and developmental disabilities (IDD) face multiple barriers to inclusion throughout life. One barrier is the medical knowledge and biases of adult healthcare providers with diagnoses traditionally associated with childhood. Medical school curricula have limited content related to IDD, and students have limited opportunities to engage with community organizations during their clinical years. Methods: We created a one-month clinical elective to address medical students' attitudes and knowledge regarding individuals with IDD using experiential learning. Students saw adult patients in our primary care clinic with a variety of IDD diagnoses and spent 30% of their time at community sites …
Congestion And Sinonasal Illness In Outer Space: A Study On The International Space Station, Faizaan Khan, Koyal Ansingkar, Roshan Dongre, Zain Mehdi, Aatin K Dhanda, Kayla Powell, Tariq Syed, Samuel E Razmi, Isuru Somawardana, Jeffrey T Vrabec, David Hilmers, Omar G Ahmed, Masayoshi Takashima
Congestion And Sinonasal Illness In Outer Space: A Study On The International Space Station, Faizaan Khan, Koyal Ansingkar, Roshan Dongre, Zain Mehdi, Aatin K Dhanda, Kayla Powell, Tariq Syed, Samuel E Razmi, Isuru Somawardana, Jeffrey T Vrabec, David Hilmers, Omar G Ahmed, Masayoshi Takashima
Faculty, Staff and Students Publications
Objectives: This study aims to characterize quantitative data pertaining to sinonasal symptoms and their related medication use aboard the International Space Station (ISS). A secondary focus involves correlating these findings with mission parameters such as extravehicular activity (EVA) participation and mission duration.
Methods: This retrospective cohort study was conducted utilizing data requested from the National Aeronautics and Space Administration (NASA) Lifetime Surveillance of Astronaut Health (LSAH) program.
Results: Of 71 de-identified ISS astronauts beginning with Expedition 1 in the year 2000 through 62 in 2019, there were 754 logged medical events; 60 astronauts reported any type of sinonasal medical event …
Notice-Ed: Nurse Or Technician Insights Into Cognitive Evaluations In The Emergency Department, Sarah J Nessen, Anita N Chary, Annika R Bhananker, K Jane Muir, Lauren T Southerland, Kyra O'Brien, Ari B Friedman
Notice-Ed: Nurse Or Technician Insights Into Cognitive Evaluations In The Emergency Department, Sarah J Nessen, Anita N Chary, Annika R Bhananker, K Jane Muir, Lauren T Southerland, Kyra O'Brien, Ari B Friedman
Faculty, Staff and Students Publications
Background: Several strategies have been proposed to increase chronic cognitive impairment (CI) screening in the emergency department (ED). Our goal was to assess the feasibility and acceptability of implementing specific CI screening tools and strategies in the ED from an ED registered nurse and technician perspective.
Methods: We performed a qualitative study using semi-structured interviews with a purposive sample of ED nurses and ED technicians (EDTs). Participants worked at an urban academic hospital and were interviewed between November 2023 and March 2024. Interviews assessed participants' opinions on the feasibility and acceptability of CI screening and the use of machine learning …
N-Acetylaspartate From Fat Cells Regulates Postprandial Body Temperature, Jessica B Felix, Pradip K Saha, Evelyn L De Groot, Lin Tan, Robert Sharp, Elizabeth S Anaya, Yafang Li, Holly Quang, Nooshin Saidi, Layla Abushamat, Christie M Ballantyne, Christopher I Amos, Philip L Lorenzi, Samuel Klein, Xia Gao, Sean M Hartig
N-Acetylaspartate From Fat Cells Regulates Postprandial Body Temperature, Jessica B Felix, Pradip K Saha, Evelyn L De Groot, Lin Tan, Robert Sharp, Elizabeth S Anaya, Yafang Li, Holly Quang, Nooshin Saidi, Layla Abushamat, Christie M Ballantyne, Christopher I Amos, Philip L Lorenzi, Samuel Klein, Xia Gao, Sean M Hartig
Faculty, Staff and Students Publications
N-acetylaspartate (NAA), the brain’s second most abundant metabolite, provides essential substrates for myelination through its hydrolysis1. However, the physiological roles of NAA in other tissues remain unknown. Here, we show that aspartoacylase (ASPA) expression in white adipose tissue (WAT) governs blood NAA levels for postprandial body temperature regulation. Genetic ablation of Aspa in mice resulted in systemically elevated NAA levels, and the ensuing accumulation in WAT stimulated pyrimidine production. Stable isotope tracing confirmed higher incorporation of glucose-derived carbon into pyrimidine metabolites in Aspa knockout cells. Additionally, serum NAA levels positively correlated with the abundance of the pyrimidine …
Developing Culturally Centered Outreach Materials For Rural Native Veterans, Alexandra B Caloudas, Kelley Arredondo, Gail Beauchamp, Sharon Anastas, Kathy Marchant-Miros, Kristen Frosio, Giselle Day, Katherine Bay, Stephanie Day, Jan Lindsay, Jay Shore
Developing Culturally Centered Outreach Materials For Rural Native Veterans, Alexandra B Caloudas, Kelley Arredondo, Gail Beauchamp, Sharon Anastas, Kathy Marchant-Miros, Kristen Frosio, Giselle Day, Katherine Bay, Stephanie Day, Jan Lindsay, Jay Shore
Faculty, Staff and Students Publications
Native Americans serve in the U.S. military at the highest rate per capita of any ethnoracial group and have elevated rates of mental health (MH) difficulties compared to other ethnoracial groups, including posttraumatic stress disorder, alcohol use disorders, and suicide. Almost half of Native Veterans live in rural areas; rurality is associated with significant barriers to MH services. Engaging in outreach with Native Veterans is an important pathway for connecting them with MH care, but the outreach process and educational materials must be culturally aligned to be more effective. We collaborated with partners at a rural Department of Veterans Affairs …
Incidence, Predictors, And Indications Of Permanent Pacemaker Implantation Following Orthotopic Heart Transplantation: A Single-Center Experience, Iriagbonse Rotimi Asemota, Siddharth Das, Michelle Nsahlai, Edward Graviss, Duc T Nguyen, Paul A Schurmann, Rayan Yousefzai
Incidence, Predictors, And Indications Of Permanent Pacemaker Implantation Following Orthotopic Heart Transplantation: A Single-Center Experience, Iriagbonse Rotimi Asemota, Siddharth Das, Michelle Nsahlai, Edward Graviss, Duc T Nguyen, Paul A Schurmann, Rayan Yousefzai
Faculty, Staff and Students Publications
In the modern era of orthotopic heart transplantation (OHT) with bicaval anastomosis, there is a paucity of data on permanent pacemaker implantation (PPI) in this population. This is a retrospective study describing the incidence, indication, and predictors in patients who underwent PPI after OHT. Using the transplant database from our institution between January 2016 and December 2022, 370 patients who had de-novo OHT were identified. The incidence of PPI post-OHT was 8.1% (n = 30 patients). The average time from OHT to PPI was 30.5 days. The most common indication for PPI was sinus node dysfunction, accounting for 83% …
Comparative Efficacy Of Current Topical Treatments For Dry Eye Disease: A Review Of Pivotal Clinical Trials Evaluating Corneal Staining Outcomes, Ahmad Fahmy, Masih Ahmed, Stephen Pflugfelder, Anara Serikbaeva, Fang-Wei Tsao
Comparative Efficacy Of Current Topical Treatments For Dry Eye Disease: A Review Of Pivotal Clinical Trials Evaluating Corneal Staining Outcomes, Ahmad Fahmy, Masih Ahmed, Stephen Pflugfelder, Anara Serikbaeva, Fang-Wei Tsao
Faculty, Staff and Students Publications
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Nerve-To-Cancer Transfer Of Mitochondria During Cancer Metastasis, Gregory Hoover, Shila Gilbert, Olivia Curley, Clémence Obellianne, Mike T Lin, William Hixson, Terry W Pierce, Joel F Andrews, Mikhail F Alexeyev, Yi Ding, Ping Bu, Fariba Behbod, Daniel Medina, Jeffrey T Chang, Gustavo Ayala, Simon Grelet
Nerve-To-Cancer Transfer Of Mitochondria During Cancer Metastasis, Gregory Hoover, Shila Gilbert, Olivia Curley, Clémence Obellianne, Mike T Lin, William Hixson, Terry W Pierce, Joel F Andrews, Mikhail F Alexeyev, Yi Ding, Ping Bu, Fariba Behbod, Daniel Medina, Jeffrey T Chang, Gustavo Ayala, Simon Grelet
Faculty, Staff and Students Publications
The nervous system has a pivotal role in cancer biology, and pathological investigations have linked intratumoural nerve density to metastasis1. However, the precise impact of cancer-associated neurons and the communication channels at the nerve–cancer interface remain poorly understood. Previous cancer denervation models in rodents and humans have highlighted robust cancer dependency on nerves, but the underlying mechanisms that drive nerve-mediated cancer aggressivity remain unknown2,3. Here we show that cancer-associated neurons enhance cancer metabolic plasticity by transferring mitochondria to cancer cells. Breast cancer denervation and nerve–cancer coculture models confirmed that neurons significantly improve tumour energetics. …
Mx1-Labeled Pulp Progenitor Cells Are The Main Contributors Of Odontoblast And Dentin Regeneration In Murine Molars, Dongwook Yang, Youngjae Jeong, Laura Ortinau, Jea Giezl Solidum, Dongsu Park
Mx1-Labeled Pulp Progenitor Cells Are The Main Contributors Of Odontoblast And Dentin Regeneration In Murine Molars, Dongwook Yang, Youngjae Jeong, Laura Ortinau, Jea Giezl Solidum, Dongsu Park
Faculty, Staff and Students Publications
Regeneration of dentin and odontoblasts from dental pulp progenitor cells is essential for the maintenance of permanent tooth. However, the in vivo identity of endogenous pulp progenitor cells and how they contribute to reparative dentinogenesis remain elusive. Here we show that comparative single-cell analysis of pulp cells before and after molar eruption reveal that endogenous pulp progenitor cells are enriched in coronal papilla-like cells with Mx1-Cre and Cxcl12–GFP expression. Further, lineage tracing and fluorescence-activated cell sorting analysis indicated that Mx1-labeled (Mx1+) pulp cells include long-term repopulating progenitor cells with higher expression of stem cell markers. Notably, …