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Articles 7621 - 7650 of 24599
Full-Text Articles in Medicine and Health Sciences
The Synaptic Architecture Of Layer 5 Thick Tufted Excitatory Neurons In Mouse Visual Cortex, Agnes L Bodor, Casey M Schneider-Mizell, Chi Zhang, Leila Elabbady, Alex Mallen, Andi Bergeson, Derrick Brittain, Joann Buchanan, Daniel J Bumbarger, Rachel Dalley, Clare Gamlin, Emily Joyce, Daniel Kapner, Sam Kinn, Gayathri Mahalingam, Sharmishtaa Seshamani, Shelby Suckow, Marc Takeno, Russel Torres, Wenjing Yin, J Alexander Bae, Manuel A Castro, Sven Dorkenwald, Akhilesh Halageri, Zhen Jia, Chris Jordan, Nico Kemnitz, Kisuk Lee, Kai Li, Ran Lu, Thomas Macrina, Eric Mitchell, Shanka Subhra Mondal, Shang Mu, Barak Nehoran, Sergiy Popovych, William Silversmith, Nicholas L Turner, Szi-Chieh Yu, William Wong, Jingpeng Wu, Brendan Celii, Luke Campagnola, Stephanie C Seeman, Tim Jarsky, Naixin Ren, Anton Arkhipov, Jacob Reimer, H Sebastian Seung, R Clay Reid, Forrest Collman, Nuno Maçarico Da Costa
The Synaptic Architecture Of Layer 5 Thick Tufted Excitatory Neurons In Mouse Visual Cortex, Agnes L Bodor, Casey M Schneider-Mizell, Chi Zhang, Leila Elabbady, Alex Mallen, Andi Bergeson, Derrick Brittain, Joann Buchanan, Daniel J Bumbarger, Rachel Dalley, Clare Gamlin, Emily Joyce, Daniel Kapner, Sam Kinn, Gayathri Mahalingam, Sharmishtaa Seshamani, Shelby Suckow, Marc Takeno, Russel Torres, Wenjing Yin, J Alexander Bae, Manuel A Castro, Sven Dorkenwald, Akhilesh Halageri, Zhen Jia, Chris Jordan, Nico Kemnitz, Kisuk Lee, Kai Li, Ran Lu, Thomas Macrina, Eric Mitchell, Shanka Subhra Mondal, Shang Mu, Barak Nehoran, Sergiy Popovych, William Silversmith, Nicholas L Turner, Szi-Chieh Yu, William Wong, Jingpeng Wu, Brendan Celii, Luke Campagnola, Stephanie C Seeman, Tim Jarsky, Naixin Ren, Anton Arkhipov, Jacob Reimer, H Sebastian Seung, R Clay Reid, Forrest Collman, Nuno Maçarico Da Costa
Faculty, Staff and Students Publications
Despite significant progress in characterizing neocortical cell types, a complete understanding of the synaptic connections of individual excitatory cells remains elusive. This study investigates the connectivity of mouse visual cortex thick tufted layer 5 pyramidal cells, also known as extratelencephalic neurons (L5-ETns), using a 1 mm3 publicly available electron microscopy dataset. The analysis reveals that, in their immediate vicinity, L5-ETns primarily establish connections with a group of inhibitory cell types, which, in turn, specifically target the L5-ETns back. The most common excitatory targets of L5-ETns are layer 5 intertelencephalic neurons (L5-ITns) and layer 6 (L6) pyramidal cells, whereas synapses with …
Ruptured Arteriovenous Malformation Mortality: Incidence, Risk Factors, And Inpatient Outcome Score, Eric Feldstein, Allison Zhong, Kevin Clare, Bridget Nolan, Smit Patel, Nir Lavi-Romer, Zehavya Stadlan, Alis Dicpinigaitis, Jose Dominguez, Haris Kamal, Steven D Shapiro, Arundhati Biswas, Omar Tanweer, Ketan Bulsara, Carrie Muh, Jared Pisapia, Simon Hanft, Stephan Mayer, Chirag D Gandhi, Fawaz Al-Mufti
Ruptured Arteriovenous Malformation Mortality: Incidence, Risk Factors, And Inpatient Outcome Score, Eric Feldstein, Allison Zhong, Kevin Clare, Bridget Nolan, Smit Patel, Nir Lavi-Romer, Zehavya Stadlan, Alis Dicpinigaitis, Jose Dominguez, Haris Kamal, Steven D Shapiro, Arundhati Biswas, Omar Tanweer, Ketan Bulsara, Carrie Muh, Jared Pisapia, Simon Hanft, Stephan Mayer, Chirag D Gandhi, Fawaz Al-Mufti
Faculty, Staff and Students Publications
Background
Limited literature exists on the morbidity and mortality of AVM associated intracerebral hemorrhage (ICH) compared with non-AVM ICH.
Objective
We examine morbidity and mortality in cAVM in a large nationwide inpatient sample to create a prognostic inpatient ruptured AVM mortality score.
Methods
This retrospective cohort study from 2008 to 2014 compares outcomes in cAVM related hemorrhages and ICH utilizing the National Inpatient Sample database. Diagnostic codes for ICH and AVM underlying ICH were identified. We compared case fatality according to medical complications. Multivariate analysis was used to derive hazard ratios and 95% confidence intervals to assess odds of mortality. …
Effect Of Social Drivers Of Health On Screening For Type 2 Diabetes In Individuals With Gestational Diabetes During Delivery Hospitalization And 4-12 Weeks Postpartum, Ingmar N Bastian, Manisha Gandhi, Mark A Turrentine
Effect Of Social Drivers Of Health On Screening For Type 2 Diabetes In Individuals With Gestational Diabetes During Delivery Hospitalization And 4-12 Weeks Postpartum, Ingmar N Bastian, Manisha Gandhi, Mark A Turrentine
Faculty, Staff and Students Publications
Objective: To prospectively evaluate postpartum diabetes screening rates among individuals with gestational diabetes mellitus (GDM) offered testing during the delivery hospitalization or at 4-12 weeks postpartum compared with historic outpatient-only screening and to assess the role of social and structural drivers of health.
Methods: This retrospective study compared patients with GDM who delivered between January 1 and December 31, 2023 (retrospective cohort), and underwent outpatient screening at 4-12 weeks postpartum with a 75-g 2-hour oral glucose tolerance test (OGTT) with a prospective cohort (June 24-November 5, 2024) of the first 100 patients who underwent screening in the immediate postpartum delivery …
Racial And Ethnic Disparity For Cancer Mortality In General And Single-Payer Healthcare Systems In The United States, Rock Bum Kim, Emily Zhou, Kaitlin N Swinnerton, Jennifer La, Shengling Ma, Mrinal Ranjan, Nhan V Do, Mary T Brophy, Nathanael R Fillmore, Ang Li
Racial And Ethnic Disparity For Cancer Mortality In General And Single-Payer Healthcare Systems In The United States, Rock Bum Kim, Emily Zhou, Kaitlin N Swinnerton, Jennifer La, Shengling Ma, Mrinal Ranjan, Nhan V Do, Mary T Brophy, Nathanael R Fillmore, Ang Li
Faculty, Staff and Students Publications
Background: It remains unclear what factors significantly drive racial disparity in cancer survival in the United States (US). We compared adjusted mortality outcomes in cancer patients from different racial and ethnic groups on a population level in the US and a single-payer healthcare system.
Patients and methods: We selected adult patients with incident solid and hematologic malignancies from the Surveillance, Epidemiology, and End Results (SEER) 2011-2020 and Veteran Affairs national healthcare system (VA) 2011-2021. We classified the self-reported NIH race and ethnicity into non-Hispanic White (NHW), non-Hispanic Black (NHB), non-Hispanic Asian Pacific Islander (API), and Hispanic. Cox regression models for …
Incidence Of And Risk Factors For Hospital-Acquired Bleeding In People With Cancer: A Systematic Review, Mansour Gergi, Jinah Kim, Amalia Dolan, Laura Haines, Ang Li, Neil A Zakai
Incidence Of And Risk Factors For Hospital-Acquired Bleeding In People With Cancer: A Systematic Review, Mansour Gergi, Jinah Kim, Amalia Dolan, Laura Haines, Ang Li, Neil A Zakai
Faculty, Staff and Students Publications
Background: Hospital-acquired (HA) bleeding (bleeding occurring during hospitalization) in cancer patients is poorly characterized, potentially increasing morbidity and mortality due to under- or overprescription of low-dose anticoagulation for venous thromboembolism prevention.
Objectives: To perform a systematic review and meta-analysis (as appropriate) to identify the incidence of and risk factors for HA bleeding in people with cancer.
Methods: A systematic English-language search was conducted using Ovid MEDLINE, Ovid EMBASE, Google Scholar, and Cochrane Library. Keywords and controlled vocabulary related to bleeding risk in hospitalized cancer patients were iteratively refined. Studies assessing HA bleeding as a primary or coprimary endpoint were included, …
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. …
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 …
Honoring Childhood Agency In Developmental Research: Best Practices, Applications, And Insights, Amanda N. Howery, Olivia J. Lashley, Hanna R. Wright, Julia L. Williams, Olivia K. Nomura, Eline Lenne, Elizabeth K. Wood, Hanna C. Gustafsson, Elinor L. Sullivan
Honoring Childhood Agency In Developmental Research: Best Practices, Applications, And Insights, Amanda N. Howery, Olivia J. Lashley, Hanna R. Wright, Julia L. Williams, Olivia K. Nomura, Eline Lenne, Elizabeth K. Wood, Hanna C. Gustafsson, Elinor L. Sullivan
School of Social Work Faculty Publications and Presentations
Pediatric research requires caregivers to provide informed consent on behalf of their children. While not a formal requirement for children under the age of seven, it is important to involve child participants in the assent and decision-making processes in developmentally appropriate ways. This is especially important in longitudinal research, where the extent to which a developing child understands study tasks evolves over time. Although there is consensus that assent procedures are important and necessary, limited resources synthesizing strategies for pediatric researchers to encourage positive and respectful research experiences for young children exist. We describe methods used in an ongoing longitudinal …
Collaborative Healthcare: Advancing Interprofessional Practice & Education, Volume 15, Number 2, Spring/Summer 2025
Collaborative Healthcare: Interprofessional Practice, Education and Evaluation (JCIPE)
In this Issue:
- From the Editors
- Bridging the Gaps : Reflecting on a Summer of Immigrant and Refugee Health in Philadelphia
- Meet an IPE/CP Faculty Champion
- Meet an IPE/CP Alumna Champion
- Spotlight on Interprofessional Clinical Team
- Interprofessional Training on Inclusivity for Sexual and Gender Minority Populations
Is “Pre-Sepsis” The New Sepsis? A Narrative Review, Rémy Gerard, Antoine Dewitte, Fridolin Gross, Thomas Pradeu, Maël Lemoine, Julien Goret, Maria Mamani-Matsuda
Is “Pre-Sepsis” The New Sepsis? A Narrative Review, Rémy Gerard, Antoine Dewitte, Fridolin Gross, Thomas Pradeu, Maël Lemoine, Julien Goret, Maria Mamani-Matsuda
Presidential Fellows Articles and Research
Sepsis is a life-threatening condition caused by a dysregulated immune response to infection, leading to organ dysfunction and high mortality. Despite advances in treatment, sepsis remains difficult to manage. Historically, the concept of sepsis evolved from ancient observations of infection-related decay to the germ theory of the 19th century. The latest Sepsis-3 definition describes sepsis as life-threatening organ dysfunction due to a dysregulated host response. However, this clinical characterization may be too late for effective intervention. The concept of endotypes and the ontological data applied to sepsis highlight the substantial heterogeneity in pathophysiological pathways leading to this endpoint. We propose …
Burnout Of Physical Therapist: Impact Of Agitated Behaviors In The Traumatic Brain Injury Population, Francine Sage-King
Burnout Of Physical Therapist: Impact Of Agitated Behaviors In The Traumatic Brain Injury Population, Francine Sage-King
Seton Hall University Dissertations and Theses (ETDs)
The purpose of this study was to investigate the impact patient agitation post traumatic brain injury (TBI) has on physical therapist burnout and the factors that contribute to its presence. Therefore, the following research questions were posed: 1) What is the prevalence of burnout among physical therapists (PTs) providing direct patient care for patients with post-TBI agitation? 2) Is there a relationship between clinical setting and 3) percentage of direct patient care and PT burnout? 4) How do scores of resilience differ between those that do and do not have burnout? And 5) What work system factors do PTs working …
Analyzing High-Risk Fertility Behavior For Sustainable Maternal-Child Health: A 2017 Sociodemographic Study In Urban And Rural Indonesia, Asti Annisa Utami, Fadhaa Aditya Kautsar Murti, Popy Yuniar, Milla Herdayati
Analyzing High-Risk Fertility Behavior For Sustainable Maternal-Child Health: A 2017 Sociodemographic Study In Urban And Rural Indonesia, Asti Annisa Utami, Fadhaa Aditya Kautsar Murti, Popy Yuniar, Milla Herdayati
Kesmas
Indonesia's goal of achieving Indonesia Emas 2045 hinges on improving Maternal-Child Health (MCH), essential for building a healthy and competitive population. Despite some advancements, the Maternal Mortality Rate (MMR) and Under-five Mortality Rate (U5MR) remain high, particularly because of High-Risk Fertility Behavior (HRFB). The HRFB poses significant risks to MCH, affecting both urban and rural women. This study aimed to identify the factors associated with HRFB in these areas to enhance MCH outcomes and support Indonesia's sustainable health goals. This cross-sectional study used a secondary dataset from the 2017 Indonesian Demographic Health Survey. A total of 20,530 women of reproductive …
Associated Factors In Willingness To Shift Tobacco Expenditure Into National Health Insurance Premium Among Subsidized Members, Mugi Wahidin, Muhammad Agus Mikrajab, Rozana Ika Agustiya, Veza Azteria
Associated Factors In Willingness To Shift Tobacco Expenditure Into National Health Insurance Premium Among Subsidized Members, Mugi Wahidin, Muhammad Agus Mikrajab, Rozana Ika Agustiya, Veza Azteria
Kesmas
In Indonesia, subsidized members are the largest group in the National Health Insurance program. Hence, it is essential to understand their ability to pay (ATP) based on tobacco expenditure. This study aimed to determine the ATP of subsidized members based on tobacco expenditure and factors associated with their willingness to pay (WTP). This cross-sectional study used secondary data from the National Institute of Health Research and Development. The population included all subsidized members; 19,918 were sampled for ATP, and 14,560 were WTP. The independent t-test, ANOVA, and logistic regression were performed. Results showed that ATP from tobacco expenditure ranged from …
Determinants Of School Health Unit Program Implementation In Junior High Schools Of Boyolali District, Indonesia, Ayu Khoirotul Umaroh, Noor Alis Setiyadi, Kusuma Estu Werdani, Tanjung Anitasari Indah Kusumaningrum, Purwo Setiyo Nugroho
Determinants Of School Health Unit Program Implementation In Junior High Schools Of Boyolali District, Indonesia, Ayu Khoirotul Umaroh, Noor Alis Setiyadi, Kusuma Estu Werdani, Tanjung Anitasari Indah Kusumaningrum, Purwo Setiyo Nugroho
Kesmas
Adolescent health problems such as stunting, attempted suicide, and tobacco use in Indonesia require attention. To address these challenges, the School Health Unit Program, a school-based health initiative, aims to improve student health and academic achievement. This study examined the relationship between human resources, teachers’ knowledge, facilities and infrastructure, financial resources, and the planning process for implementing the School Health Unit Program in junior high schools in Boyolali District, Indonesia. A cross-sectional design was utilized, involving 50 junior high school teachers responsible for the School Health Unit as respondents, with data collected through structured questionnaires. Multivariate logistic regression analysis revealed …
Google Review Analysis Of “Duta We Care” Excellent Service As A Featured Service At A Central General Hospital In Padang, Alfitri Alfitri, Ricvan Dana Nindrea, Adek Setiawan, Elsa Yuniarti
Google Review Analysis Of “Duta We Care” Excellent Service As A Featured Service At A Central General Hospital In Padang, Alfitri Alfitri, Ricvan Dana Nindrea, Adek Setiawan, Elsa Yuniarti
Kesmas
Improving healthcare service quality required both technical and interpersonal enhancements through a personalized approach, as demonstrated by the “Duta We Care” program at a Central General Hospital in Padang. This study aimed to evaluate the program’s effectiveness by analyzing patient feedback from Google Reviews. A descriptive quantitative design examined 2,035 patient reviews from March 2013 to June 2024. Using NVivo 12 software, the data analysis generated word clouds. The results showed that 68.20% of reviews received a 5-star rating, 9.48% a 4-star rating, 4.35% a 3-star rating, 2.27% a 2-star rating, and 15.70% a 1-star rating. Words like “friendly,” “professional,” …
Socioeconomic Status, Environmental Health Knowledge, And Housewives’ Behavior In Maintaining Healthy Housing At Subsidized Flats In East Jakarta, Indonesia, Alfitra Firizkia Luthfiana Dewi, Laila Fitria
Socioeconomic Status, Environmental Health Knowledge, And Housewives’ Behavior In Maintaining Healthy Housing At Subsidized Flats In East Jakarta, Indonesia, Alfitra Firizkia Luthfiana Dewi, Laila Fitria
Kesmas
Healthy behavior among housewives is a crucial aspect of efforts to maintain healthy housing. This study aimed to analyze the relationship of socioeconomic status (e.g., household income, level of education of family head and housewives, and family head’s occupation) and environmental health knowledge with housewives’ behavior (e.g., vector control, waste management, home ventilation, cigarette smoking, and hand sanitation hygiene) in maintaining healthy housing in the subsidized flats in East Jakarta, Indonesia. This cross-sectional study employed the two-proportion hypothesis test formula and a simple random sampling method, recruiting 137 housewives for interviews. Data were analyzed via logistic regression to determine factors …
Providing An Evidence-Based Miscarriage Care Education Program For Nurses Caring For Women Experiencing An Early Pregnancy Loss, Kailee Draz
DNP Projects
Objective
Women often seek emergency care during an early pregnancy loss. Unfortunately, research shows that women are overwhelmingly dissatisfied with their miscarriage care due to lack of support and guidance, provider knowledge, communication and follow-up care. Mishandled miscarriage situations can cause women to suffer physical and psychological consequences. The purpose of this project was to discover if providing emergency room nursing staff with pregnancy loss bereavement education allows for enhanced support, knowledge, and confidence when caring for women experiencing pregnancy loss. The aim of the project is to measure if perceptions of ER registered nurses support, resources, knowledge, and confidence …
From Disappointment To Predominance: Medicare Advantage's Ascendancy And Transformation Of Medicare, Rick Mayes, Micah Johnson
From Disappointment To Predominance: Medicare Advantage's Ascendancy And Transformation Of Medicare, Rick Mayes, Micah Johnson
Health Studies Faculty Publications
From 2004 to 2024, Medicare Advantage (MA) went from being a “policy disappointment,” covering 12% of all Medicare beneficiaries, to predominance, covering more than one-half (52%), with more growth predicted in the future. Drawing on an extensive review and synthesis of the literature, Medicare Payment Advisory Commission (MedPAC) reports, congressional committee hearings, and Centers for Medicare and Medicaid Services (CMS) data, this paper analyzes the evolution of Medicare and managed care in three parts. First, it briefly traces the early efforts to build an integrated managed care option to the traditional, fragmented fee-for-service Medicare program and highlights four key changes …
“Medication Is Only 10% Of Recovery”: A Mixed-Method Analysis Of Facilitators And Barriers To The Equitable Implementation Of Medications For Opioid Use Disorder Treatment, Alexandra Hernandez-Vallant
“Medication Is Only 10% Of Recovery”: A Mixed-Method Analysis Of Facilitators And Barriers To The Equitable Implementation Of Medications For Opioid Use Disorder Treatment, Alexandra Hernandez-Vallant
Psychology ETDs
Medications for opioid use disorder (MOUD), the gold standard treatment for OUD, are underutilized. Yet, research on MOUD clinical encounters is limited. Attention to social determinants of health (SDOH) can help improve engagement and retention in MOUD treatment. This dissertation project describes development of a clinical vignette-based survey using a two phase exploratory sequential design to examine the extent to which SDOH influence clinical decision-making among MOUD providers. Study 1 included interviews with 23 providers to learn their perspectives on facilitators/barriers to MOUD treatment and the clinical and social determinants most influential to their clinical decision-making. Study 2 involved development …
Tackling Data Quality Challenges In Remote Sensing: Solutions For Reliable Urban Heat Island Analysis, Wei Xia, Aqil Tariq, Hesham El-Askary, Rana Waqar Aslam, Elgar Barboza, Dmitry E. Kucher, Youssef M. Youssef, Habib Kraiem
Tackling Data Quality Challenges In Remote Sensing: Solutions For Reliable Urban Heat Island Analysis, Wei Xia, Aqil Tariq, Hesham El-Askary, Rana Waqar Aslam, Elgar Barboza, Dmitry E. Kucher, Youssef M. Youssef, Habib Kraiem
Mathematics, Physics, and Computer Science Faculty Articles and Research
Urban heat islands (UHIs) pose critical challenges to public health, energy demand, and environmental sustainability, particularly in rapidly expanding urban regions. This study examines the complex relationship between building configurations and integrated green spaces, as well as their combined impact on thermal regulation. It focuses on addressing data quality issues commonly encountered in remote sensing applications. Using high-resolution multispectral and thermal imagery, we developed an integrated modeling approach that captures the collective influence of built form and green infrastructure on urban microclimates. A key finding is the significant linear inverse relationship between green space coverage and land surface temperature, underscoring …