Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons™

Open Access. Powered by Scholars. Published by Universities.®

Series

Discipline
Institution
Keyword
Publication Year
Publication
File Type

Articles 9661 - 9690 of 160417

Full-Text Articles in Medicine and Health Sciences

Neurofilament Light (Nfl) Chain Levels Predict Clinical Decline In Alzheimer’S Disease: A Systematic Review And Meta-Analysis, Kim Thomas, Paul Spin, Nikita Sir, Kevin Hou, Nicholas J. Ashton, Henrik Zetterberg, Sonya Miller, Carol Pringle, Richard G. Stefanacci, Claude M. Wischik, Serge Gauthier Sep 2025

Neurofilament Light (Nfl) Chain Levels Predict Clinical Decline In Alzheimer’S Disease: A Systematic Review And Meta-Analysis, Kim Thomas, Paul Spin, Nikita Sir, Kevin Hou, Nicholas J. Ashton, Henrik Zetterberg, Sonya Miller, Carol Pringle, Richard G. Stefanacci, Claude M. Wischik, Serge Gauthier

College of Population Health Faculty Papers

BACKGROUND: Regulatory approval of new investigational Alzheimer's disease (AD) therapies could be accelerated if reasonably likely surrogate endpoints could be used. Neurofilament light chain (NfL) has potential utility as a prognostic biomarker of neurodegeneration in AD.

OBJECTIVE: To synthesize available evidence on the relationship between baseline NfL levels and longitudinal clinical decline.

METHODS: A systematic literature review identified 19 eligible studies, contributing 37 longitudinal statistical models evaluating the association between baseline NfL (plasma or cerebrospinal fluid [CSF]) with subsequent clinical decline based on validated clinical scales including Mini-Mental State Examination (MMSE), Alzheimer's Disease Assessment Scale-Cognitive Subscale, and Clinical Dementia Rating. …


Cerebellar Dysfunction In A Mouse Model Of Childhood-Onset Manganese-Induced Dystonia Parkinsonism, Alexander N Rodichkin, Amanda M Brown, Pavani Devabathini, Jennifer L Mcglothan, Si Chen, Ajith Pattammattel, Yong S Chu, Tao Lin, Daniel D Pontow, Karam Abilmouna, Ritishka Kapoor, Sarah E Hardin, Yulia Pushkar, Roy V Sillitoe, Tomás R Guilarte Sep 2025

Cerebellar Dysfunction In A Mouse Model Of Childhood-Onset Manganese-Induced Dystonia Parkinsonism, Alexander N Rodichkin, Amanda M Brown, Pavani Devabathini, Jennifer L Mcglothan, Si Chen, Ajith Pattammattel, Yong S Chu, Tao Lin, Daniel D Pontow, Karam Abilmouna, Ritishka Kapoor, Sarah E Hardin, Yulia Pushkar, Roy V Sillitoe, Tomás R Guilarte

Duncan NRI Faculty and Staff Publications

Humans with pathogenic variants of the manganese (Mn) transporter gene SLC39A14 exhibit highly elevated brain Mn concentrations and childhood-onset dystonia-parkinsonism. Here we show that Slc39a14-knockout (KO) mice, a preclinical model of the disease with elevated Mn concentrations in the CB, express deficits in physiological tremor implicating cerebellar (CB) dysfunction. Imaging of intracellular Mn in Purkinje cells (PCs) using synchrotron-based X-ray fluorescence microscopy confirmed highly elevated Mn concentrations in the PCs of Slc39a14-KO mice. To determine biological pathways altered in the CB of Slc39a14-KO mice relative to wildtype (WT), we performed RNA sequencing and discovered significant upregulation of pathways and genes …


Retracted: Idea Density And Grammatical Complexity As Neurocognitive Markers, Diego Iacono, Gloria Feltis Sep 2025

Retracted: Idea Density And Grammatical Complexity As Neurocognitive Markers, Diego Iacono, Gloria Feltis

Department of Neurology Faculty Papers

Language, a uniquely human cognitive faculty, is fundamentally characterized by its capacity for complex thoughts and structured expressions. This review examines two critical measures of linguistic performance: idea density (ID) and grammatical complexity (GC). ID quantifies the richness of information conveyed per unit of language, reflecting semantic efficiency and conceptual processing. GC, conversely, measures the structural sophistication of syntax, indicative of hierarchical organization and rule-based operations. We explore the neurobiological underpinnings of these measures, identifying key brain regions and white matter pathways involved in their generation and comprehension. This includes linking ID to a distributed network of semantic hubs, like …


Global Variations In Surgical Techniques For Primary Anterior Cruciate Ligament Reconstruction At Minimum 2-Year Follow-Up: A Systematic Review Of Randomized Clinical Trials, Sina Tartibi, Derrick M Knapik, S Ryan Pierson, Christopher K Bozorgmehr, Daniel C Touhey, Matthew J Matava, Matthew V Smith, Robert H Brophy Sep 2025

Global Variations In Surgical Techniques For Primary Anterior Cruciate Ligament Reconstruction At Minimum 2-Year Follow-Up: A Systematic Review Of Randomized Clinical Trials, Sina Tartibi, Derrick M Knapik, S Ryan Pierson, Christopher K Bozorgmehr, Daniel C Touhey, Matthew J Matava, Matthew V Smith, Robert H Brophy

2020-Current year OA Pubs

BACKGROUND: Regional differences in primary anterior cruciate ligament (ACL) reconstruction (ACLR) remain largely unknown.

PURPOSE: To systematically review the literature examining Level 1 and Level 2 studies to identify global differences in surgical techniques associated with primary ACLR.

STUDY DESIGN: Scoping review; Level of evidence, 1.

METHODS: A literature search was conducted following the 2020 PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines using keywords and Boolean phrases in Embase, Cochrane, and PubMed on October 25, 2024. A total of 741 articles were identified. The inclusion criteria were as follows: Level 1 and Level 2 human studies reporting …


Bridging The Cost-Effectiveness Gap In Cardiovascular Disease Prevention For Statin-Intolerant Patients, Jerrin S Philip, Christie M Ballantyne Sep 2025

Bridging The Cost-Effectiveness Gap In Cardiovascular Disease Prevention For Statin-Intolerant Patients, Jerrin S Philip, Christie M Ballantyne

Faculty, Staff and Students Publications

No abstract provided.


Repeat Selective Dorsal Rhizotomy For Residual Spasticity: Illustrative Case, Elizabeth Ledbetter, Aloysia L Schwabe, Heather Sgro, Sarah Slocum, Nisha Gadgil Sep 2025

Repeat Selective Dorsal Rhizotomy For Residual Spasticity: Illustrative Case, Elizabeth Ledbetter, Aloysia L Schwabe, Heather Sgro, Sarah Slocum, Nisha Gadgil

Faculty, Staff and Students Publications

Background: Selective dorsal rhizotomy (SDR) is typically a one-time surgical procedure supported by intense rehabilitation to improve ambulatory capability in children with spastic cerebral palsy (CP).

Observations: The authors present the unique case of a teenager with spastic diplegic CP who had undergone L2-S1 SDR as a child and presented with residual focal spasticity in the right plantar flexors. He underwent revision SDR at the right L5 and S1 levels in addition to decompression of canal stenosis. Postoperatively, he had notable improvement in his gait with relief of preoperative right knee and foot pain, improved ease of ambulation, and improved …


Anticonvulsant Use In Older Age Bipolar Disorder In A Global Sample From The Global Aging And Geriatric Experiments In Bipolar Disorder Project: Utilisation D'Anticonvulsivants Pour Le Traitement Des Troubles Bipolaires Du Sujet Âgé Auprès D'Un Échantillon Mondial Provenant Du Projet Gage-Bd, Katie C Bodenstein, Myriam Lesage, Paola Lavin, Sigfried Schouws, Melis Orhan, Alexandra Beunders, Osvaldo P Almeida, Kursat Altinbas, Vicent Balanzá-Martínez, Izabela G Barbosa, Hilary P Blumberg, Farren B S Briggs, Cynthia V Calkin, Orestes V Forlenza, Brent Forester, Ariel G Gildengers, Benno C M Haarman, Tomas Hajek, Beny Lafer, Paula V Nunes, Benoit Mulsant, Andrew T Olagunju, Regan E Patrick, Joquim Radua, Kaylee Sarna, Christian Simhandl, Jair C Soares, Ashley N Sutherland, Nicole Fiorelli, Antonio L Teixeira, Shangying Tsai, Eduard Vieta, Joy Yala, Lisa Eyler, Annemiek Dols, Martha Sajatovic, Soham Rej Sep 2025

Anticonvulsant Use In Older Age Bipolar Disorder In A Global Sample From The Global Aging And Geriatric Experiments In Bipolar Disorder Project: Utilisation D'Anticonvulsivants Pour Le Traitement Des Troubles Bipolaires Du Sujet Âgé Auprès D'Un Échantillon Mondial Provenant Du Projet Gage-Bd, Katie C Bodenstein, Myriam Lesage, Paola Lavin, Sigfried Schouws, Melis Orhan, Alexandra Beunders, Osvaldo P Almeida, Kursat Altinbas, Vicent Balanzá-Martínez, Izabela G Barbosa, Hilary P Blumberg, Farren B S Briggs, Cynthia V Calkin, Orestes V Forlenza, Brent Forester, Ariel G Gildengers, Benno C M Haarman, Tomas Hajek, Beny Lafer, Paula V Nunes, Benoit Mulsant, Andrew T Olagunju, Regan E Patrick, Joquim Radua, Kaylee Sarna, Christian Simhandl, Jair C Soares, Ashley N Sutherland, Nicole Fiorelli, Antonio L Teixeira, Shangying Tsai, Eduard Vieta, Joy Yala, Lisa Eyler, Annemiek Dols, Martha Sajatovic, Soham Rej

Faculty, Staff and Student Publications

Background:

Anticonvulsants are an essential treatment for bipolar disorder; however, there is relatively little known about their use in older age bipolar disorder (OABD). In this paper, which leverages a large international dataset, we aim to 1) describe the use of anticonvulsants in OABD compared to younger age bipolar disorder (YABD; ages < 50 years old) and 2) explore any demographic/clinical correlates.

Methods:

A secondary analysis was conducted on the international data from the Global Aging and Geriatric Experiments in Bipolar Disorder project. The main objective was to report the prevalence of anticonvulsant use in OABD over 50 years old (mean age = 62.27) and the most prescribed anticonvulsant. Additional …


Impacts Of The Conductive Networks On Solid-State Battery Operation, Shimao Deng, Yixian Wang, Tianxiao Sun, Wenlong Li, Mingyuan Ge, Jian Wang, Peter Cloetens, Piero Pianetta, David Mitlin, Yijin Liu Sep 2025

Impacts Of The Conductive Networks On Solid-State Battery Operation, Shimao Deng, Yixian Wang, Tianxiao Sun, Wenlong Li, Mingyuan Ge, Jian Wang, Peter Cloetens, Piero Pianetta, David Mitlin, Yijin Liu

Faculty, Staff and Student Publications

The micromorphology of composite cathodes is known to play a vital role in determining all‐solid‐state battery (ASSB) performance. However, much of our current understanding is derived from empirical observations, lacking a deeper mechanistic foundation. The “rocking chair” concept of battery chemistry requires maintaining charge neutrality, emphasizing the necessity of examining electrode micromorphology from the perspective of conductive networks. This study systematically investigates the microscopic electrochemical impacts of conductive network micromorphology by varying the Li+‐to‐e− channel ratio in cathodes comprising LiNbO3‐coated LiNi0.8Co0.1Mn0.1O2, Li6PS5Cl, and carbon fibers. Utilizing multiscale synchrotron‐based spectro‐microscopy, we unravel that unbalanced Li+ and e− conducting channels intensify charge …


Use Of Amplified Lewy Body Dementia Fibrils And Autoradiography To Characterize Binding Of Radioligand Tg-1-90b To Alpha-Synuclein Fibrils In Postmortem Brain Tissue, Jennifer Y O'Shea, Dhruva D Dhavale, Helen Hwang, Zachary Smith, Thomas J A Graham, Robert H Mach, Paul T Kotzbauer Sep 2025

Use Of Amplified Lewy Body Dementia Fibrils And Autoradiography To Characterize Binding Of Radioligand Tg-1-90b To Alpha-Synuclein Fibrils In Postmortem Brain Tissue, Jennifer Y O'Shea, Dhruva D Dhavale, Helen Hwang, Zachary Smith, Thomas J A Graham, Robert H Mach, Paul T Kotzbauer

2020-Current year OA Pubs

Parkinson's disease (PD) and Lewy Body Dementia (LBD) are defined by accumulation of alpha-synuclein (Asyn) fibrils within Lewy bodies (LBs) and Lewy neurites (LNs). The development of a Positron Emission Tomography (PET) tracer for quantifying Asyn fibrils would improve diagnostic accuracy and provide a biomarker for disease progression. We previously described radioligand [


Artificial Intelligence In The Management Of Leukemia, Stephanie Koo, Austin P. Runde, Melvin Speisman Sep 2025

Artificial Intelligence In The Management Of Leukemia, Stephanie Koo, Austin P. Runde, Melvin Speisman

School of Medicine

BACKGROUND: Recently, given the demonstrated ability of AI to accurately characterize complex pathologies, AI has been proposed to be of use in the diagnosis, treatment, and monitoring of leukemias given their genetic complexity and subtype heterogeneity, array of treatments, and need for relapse detection. AI has several potential applications in the management of leukemia. First, it can be used to detect leukemia; using AI to detect nuances in lab values can ensure these deadly cancers are never missed. Second, AI can be used to risk-stratify patients and personalize treatments; leukemias are among the most genetically complex cancers with well-characterized risk …


Prevalence Of Helmet Use In Skateboarders: A Systematic Review And Narrative Synthesis, Katherine Hunzinger, Ricker Adkins, Stevie Chen, Thomas Li, Lujie Chen Sep 2025

Prevalence Of Helmet Use In Skateboarders: A Systematic Review And Narrative Synthesis, Katherine Hunzinger, Ricker Adkins, Stevie Chen, Thomas Li, Lujie Chen

Department of Exercise Science Faculty Papers

Introduction: Helmet adoption remains low among skateboarders, but the specific prevalence remains unclear. The purpose of this study was to summarize available evidence on helmet-use prevalence among skateboarders. Methods: A systematic search of PubMed and Web of Science was conducted using the search terms: skateboard, skateboarding, protective gear, protective equipment, pads, or helmet. Articles were included if they were in English with specific data on helmet use among skateboarders. Articles excluded were those representing reviews or conference abstracts/presentations; or if helmet use prevalence for skateboarders could not be ascertained. Data extraction and quality assessment were performed independently by two reviewers, …


Mesalamine As A Suspected Cause Of Drug-Induced Pancreatitis: A Case Report And Review Of Diagnostic Considerations, Elias Arellano Villanueva, Miguel Lopez, Alhasan Asaad, Jose E. Campo Maldonado Sep 2025

Mesalamine As A Suspected Cause Of Drug-Induced Pancreatitis: A Case Report And Review Of Diagnostic Considerations, Elias Arellano Villanueva, Miguel Lopez, Alhasan Asaad, Jose E. Campo Maldonado

School of Medicine Publications

Acute pancreatitis (AP) is a common cause of gastrointestinal-related hospitalizations in the United States. It is characterized by pancreatic inflammation and necrosis, with diagnosis based on elevated pancreatic enzymes, characteristic imaging, and epigastric pain radiating to the back. While gallstones and alcohol are the predominant etiologies, drug-induced pancreatitis (DIP) accounts for up to 5% of cases and remains a diagnostic challenge. Over 500 medications, including mesalamine, have been implicated. Proposed mechanisms of DIP include pancreatic duct obstruction, toxic metabolite accumulation, hypersensitivity reactions, and localized angioedema. Prompt recognition and withdrawal of the offending agent are critical to prevent complications.

We report …


An Open Trial For Transdiagnostic Behavior Therapy For Primary Care (Tbt-Pc) In Veterans With Symptoms Of Depression And Anxiety, Daniel F Gros, Stephanie Hart, Michelle Pompei, Ron Acierno Sep 2025

An Open Trial For Transdiagnostic Behavior Therapy For Primary Care (Tbt-Pc) In Veterans With Symptoms Of Depression And Anxiety, Daniel F Gros, Stephanie Hart, Michelle Pompei, Ron Acierno

Faculty, Staff and Student Publications

Transdiagnostic psychotherapies were developed to address multiple diagnostic presentations via a single, easier-to-implement protocol. However, despite advances, these protocols are largely limited to longer formats designed for mental health settings. The present study investigated a version of Transdiagnostic Behavior Therapy (TBT-PC) that was adapted for primary care settings. Forty-one participants with emotional disorders received 6 sessions of TBT-PC, with symptoms of depression and anxiety assessed at baseline, immediate post-treatment, and at 3-month follow-up. Medium treatment effects for symptoms of depression and anxiety were evidenced at post-treatment and sustained at follow-up. Treatment feasibility was supported by excellent attendance, treatment completion, and …


Intelligent Pharmacy: Leveraging Ai And Automation To Enhance Patient Care And Pharmacist Roles, Craig Kimble, Alberto Coustasse, Kasi Gorli, Thomas L. Pile Sep 2025

Intelligent Pharmacy: Leveraging Ai And Automation To Enhance Patient Care And Pharmacist Roles, Craig Kimble, Alberto Coustasse, Kasi Gorli, Thomas L. Pile

Management Faculty Research

AI and automation in pharmacies enhance clinical care, operational efficiency, and workforce optimization, with widespread adoption in hospitals and retail chains. Key benefits include reduced medication errors, improved patient satisfaction, and increased pharmacist productivity, allowing focus on higher-value clinical roles. Challenges include high initial costs, cybersecurity concerns, and resistance to change, necessitating thoughtful planning and stakeholder engagement. Preparing pharmacy students for technology-driven environments is essential for successful AI integration and ethical oversight in pharmacy practice.


Validation Of The Jefferson Health-Related Social Needs Screener, Sara Beachy, Kristin L. Rising, Richard W. Hass, Terry Hyslop, Isabella Muti, Mackenzie Kemp, Rhea E. Powell, Cara Martino, Baligh R. Yehia, Joseph G. Cacchione, Patricia C. Henwood Sep 2025

Validation Of The Jefferson Health-Related Social Needs Screener, Sara Beachy, Kristin L. Rising, Richard W. Hass, Terry Hyslop, Isabella Muti, Mackenzie Kemp, Rhea E. Powell, Cara Martino, Baligh R. Yehia, Joseph G. Cacchione, Patricia C. Henwood

Jefferson Hospital Staff Papers and Presentations

INTRODUCTION: Screening for health-related social needs (HRSN) is a growing national health priority. While multiple HRSN screening tools currently exist, none to our knowledge have been evaluated using robust statistical analyses. The goal of this work is to provide results from a validation study of the Jefferson HRSN screener conducted across inpatient and outpatient settings.

METHODS: This retrospective cross-sectional psychometric study included HRSN assessments conducted across inpatient and outpatient settings with adult patients from March 2023 to May 2024. The study was conducted across a 17-hospital academic health system serving a diverse community in a 9-county area crossing two states …


Music For Self-Care, A Nurse Well-Being Strategy, Kristen Gilmore Msn, Rn, Cen, Tcrn, Ne-Bc, Nc-Bc, Allison Mccrea Mmt, Mt-Bc, Stephen Didonato Phd, Lcp Sep 2025

Music For Self-Care, A Nurse Well-Being Strategy, Kristen Gilmore Msn, Rn, Cen, Tcrn, Ne-Bc, Nc-Bc, Allison Mccrea Mmt, Mt-Bc, Stephen Didonato Phd, Lcp

Jefferson Hospital Staff Papers and Presentations

Background

  • Evidence suggests that individuals with trauma exposure, such as the impact of crisis such as COVID-19, may benefit from music therapy.
  • In 2021, the Hospital and Healthsystem Association of Pennsylvania (HAP) recognized the importance of ensuring well-being of the nursing workforce identifying the vital role that nursing plays upholding the highest standards of patient care.
  • HAP, in partnership with the Pennsylvania Council on the Arts, created a three year, first of its kind program, to support the provision of music therapy program services for healthcare workers.
  • Through this grant-funded program, Jefferson Health- Pennsylvania hospitals, were awarded $162,000. This grant …


Combined Annual Modulation Dark Matter Search With Cosine-100 And Anais-112, N Carlin, J Y Cho, J J Choi, S Choi, A C Ezeribe, L E França, C Ha, I S Hahn, S J Hollick, S B Hong, E J Jeon, H W Joo, W G Kang, M Kauer, B H Kim, H J Kim, J Kim, K W Kim, S H Kim, S K Kim, W K Kim, Y D Kim, Y H Kim, Y J Ko, D H Lee, E K Lee, H Lee, H S Lee, H Y Lee, I S Lee, J Lee, J Y Lee, M H Lee, S H Lee, S M Lee, Y J Lee, D S Leonard, N T Luan, V H A Machado, B B Manzato, R H Maruyama, R J Neal, S L Olsen, H K Park, H S Park, J C Park, J S Park, K S Park, K Park, S D Park, R L C Pitta, H Prihtiadi, S J Ra, C Rott, K A Shin, D F F S Cavalcante, M K Son, N J C Spooner, L T Truc, L Yang, G H Yu, J Amaré, J Apilluelo, S Cebrián, D Cintas, I Coarasa, E García, M Martínez, Y Ortigoza, A Ortiz De Solórzano, T Pardo, J Puimedón, M L Sarsa, C Seoane Sep 2025

Combined Annual Modulation Dark Matter Search With Cosine-100 And Anais-112, N Carlin, J Y Cho, J J Choi, S Choi, A C Ezeribe, L E França, C Ha, I S Hahn, S J Hollick, S B Hong, E J Jeon, H W Joo, W G Kang, M Kauer, B H Kim, H J Kim, J Kim, K W Kim, S H Kim, S K Kim, W K Kim, Y D Kim, Y H Kim, Y J Ko, D H Lee, E K Lee, H Lee, H S Lee, H Y Lee, I S Lee, J Lee, J Y Lee, M H Lee, S H Lee, S M Lee, Y J Lee, D S Leonard, N T Luan, V H A Machado, B B Manzato, R H Maruyama, R J Neal, S L Olsen, H K Park, H S Park, J C Park, J S Park, K S Park, K Park, S D Park, R L C Pitta, H Prihtiadi, S J Ra, C Rott, K A Shin, D F F S Cavalcante, M K Son, N J C Spooner, L T Truc, L Yang, G H Yu, J Amaré, J Apilluelo, S Cebrián, D Cintas, I Coarasa, E García, M Martínez, Y Ortigoza, A Ortiz De Solórzano, T Pardo, J Puimedón, M L Sarsa, C Seoane

Faculty and Staff Publications

The annual modulation signal, claimed to be consistent with dark matter as observed by DAMA/LIBRA in a sodium-iodide based detector, has persisted for over two decades. COSINE-100 and ANAIS-112 were designed to test the claim directly using the same target material. COSINE-100, located at Yangyang Underground Laboratory in South Korea, and ANAIS-112, located at Canfranc Underground Laboratory in Spain, have been taking data since 2016 and 2017, respectively. Each experiment published its respective results independently. In this Letter, we present the results of an annual modulation search as a test of the signal observed by DAMA/LIBRA with the first three …


Trends And Disparities In Acute Coronary Syndrome-Related Mortality In The United States: Implications For Healthcare, Muhammad Khuzzaim Khan, Ibrahim Ahmed Khan, Abdul Moiz Javed, Arslan Wazir, Hira Saleem, Muhammad Zohaib, Faisal Rasheed, Priyanka Mohan Lal, Syeda Laiba Sherazi, Amiaz Karim, Nikhil Duseja, Hussam Al Hennawi Sep 2025

Trends And Disparities In Acute Coronary Syndrome-Related Mortality In The United States: Implications For Healthcare, Muhammad Khuzzaim Khan, Ibrahim Ahmed Khan, Abdul Moiz Javed, Arslan Wazir, Hira Saleem, Muhammad Zohaib, Faisal Rasheed, Priyanka Mohan Lal, Syeda Laiba Sherazi, Amiaz Karim, Nikhil Duseja, Hussam Al Hennawi

Abington Jefferson Health Papers

Acute coronary syndrome (ACS) is a major cause of morbidity and mortality in the United States (US). However, the trends and disparities in ACS mortality are not well understood. This study aimed to analyze the ACS mortality in the US from 1999 to 2020 using the Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research database. The age-adjusted mortality rates (AAMR) due to ACS were calculated for each year from 1999 to 2020, stratified by sex, race, urbanization, and state. The trends and disparities in AAMR were examined using descriptive statistics and graphical methods. The AAMR due …


Medical Guidelines For Fibrodysplasia Ossificans Progressiva, Frederick S. Kaplan, Mona Al Mukaddam, Genevieve Baujat, Alberto Hidalgo Bravo, Matthew Brown, Amanda Cali, Tae-Joon Cho, Corrie Crowe, Carmen L. De Cunto, Patricia L. R. Delai, Robert J. Diecidue, Elisabeth Marelise W Eekhoff, Lisa Friedlander, Clive S. Friedman, Zvi Grunwald, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Joseph A. Kitterman, Charles Levy, Vrisha Madhuri, Rolf Morhart, J. Coen Netelenbos, Christiaan Scott, Eileen M. Shore, Michael Zasloff, Keqin Zhang, Robert J. Pignolo Sep 2025

Medical Guidelines For Fibrodysplasia Ossificans Progressiva, Frederick S. Kaplan, Mona Al Mukaddam, Genevieve Baujat, Alberto Hidalgo Bravo, Matthew Brown, Amanda Cali, Tae-Joon Cho, Corrie Crowe, Carmen L. De Cunto, Patricia L. R. Delai, Robert J. Diecidue, Elisabeth Marelise W Eekhoff, Lisa Friedlander, Clive S. Friedman, Zvi Grunwald, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Joseph A. Kitterman, Charles Levy, Vrisha Madhuri, Rolf Morhart, J. Coen Netelenbos, Christiaan Scott, Eileen M. Shore, Michael Zasloff, Keqin Zhang, Robert J. Pignolo

Department of Oral and Maxillofacial Surgery Faculty Papers

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomic patterns. Present management summarized here is focused on early diagnosis, assiduous avoidance of injury and iatrogenic harm, symptomatic amelioration of painful flare-ups, and optimization of residual function. Twenty-one members of the International Clinical Council on FOP (ICC) and seven consultants from 15 countries, chosen for their clinical expertise in FOP, developed this summary statement. Further advances in therapeutics will be based on rigorous clinical trials to assess novel and emerging treatment and prevention strategies. A …


Editorial: Molecular Mechanisms Of Ion Channel Activation And Modulation, Meng Cui, Miao Zhang Sep 2025

Editorial: Molecular Mechanisms Of Ion Channel Activation And Modulation, Meng Cui, Miao Zhang

Pharmacy Faculty Articles and Research

"Ion channels are integral membrane proteins that regulate the passage of ions across cell membranes, thereby shaping processes as diverse as neuronal signaling, muscle contraction, and hormone secretion. Channel activation is typically initiated by a stimulus such as voltage, ligand binding, or mechanical stress that induces conformational changes and opens the channel pore. Beyond activation, channels are subject to fine-tuned modulation by a wide range of endogenous and exogenous agents, from lipids and neurotransmitters to pharmacological drugs. Modulators can stabilize the open, closed, or inactivated states, shift ligand affinities, or alter gating kinetics. Dissecting the structural and dynamic basis of …


Chronic Poppers Maculopathy: Case Report And Literature Comparison Of Chronic And Acute Use, Francesco Cappellani, Caterina Gagliano, Jose S. Pulido Sep 2025

Chronic Poppers Maculopathy: Case Report And Literature Comparison Of Chronic And Acute Use, Francesco Cappellani, Caterina Gagliano, Jose S. Pulido

Wills Eye Hospital Papers

RATIONALE: Alkyl nitrites ("poppers") are recreational substances known for their vasodilatory and euphoric effects. Increasing evidence links them to a vision-threatening condition termed poppers maculopathy, characterized by foveal yellow spots and outer retinal changes on optical coherence tomography. While most reports describe acute exposure, little is known about long-term consequences. This case describes one of the longest documented durations of chronic poppers use, combined with a literature review to contextualize the clinical spectrum.

PATIENT CONCERNS: A 68-year-old man with human immunodeficiency virus, type 2 diabetes, hypertension, and depression presented with progressive central vision loss in both eyes persisting for at …


Epac1 Deletion Attenuates Müller Glial Pathological Activation And Mitigates Retinal Neurodegeneration In Ischemia-Induced Retinopathy, Shuizhen Shi, Fan Xia, Zhongqiao Lu, Erick Palacios, Fang Mei, Massoud Motamedi, Xiaodong Cheng, Hua Liu, Wenbo Zhang Sep 2025

Epac1 Deletion Attenuates Müller Glial Pathological Activation And Mitigates Retinal Neurodegeneration In Ischemia-Induced Retinopathy, Shuizhen Shi, Fan Xia, Zhongqiao Lu, Erick Palacios, Fang Mei, Massoud Motamedi, Xiaodong Cheng, Hua Liu, Wenbo Zhang

The Brown Foundation: Institute of Molecular Medicine

Introduction: Ischemia-induced retinopathies, such as retinopathy of prematurity and proliferative diabetic retinopathy, are major causes of vision loss. Both pathological neovascularization and neuronal damage contribute to vision impairment in these conditions, yet current therapies primarily target neovascularization and may further compromise neuronal health.

Objectives: Cyclic AMP (cAMP) is a widely recognized second messenger regulating diverse physiological and pathological processes. Exchange protein directly activated by cAMP (Epac) is a recently identified effector of cAMP signaling. This study aimed to investigate the role of Epac1 in ischemia-induced retinopathy and elucidate its underlying mechanisms using a mouse model of oxygen-induced retinopathy (OIR).

Methods: …


Blue-Shifted Ancyromonad Channelrhodopsins For Multiplex Optogenetics, Elena G Govorunova, Oleg A Sineshchekov, Hai Li, Yueyang Gou, Hongmei Chen, Shuyuan Yang, Yumei Wang, Stephen Mitchell, Alyssa Palmateer, Leonid S Brown, François St-Pierre, Mingshan Xue, John L Spudich Sep 2025

Blue-Shifted Ancyromonad Channelrhodopsins For Multiplex Optogenetics, Elena G Govorunova, Oleg A Sineshchekov, Hai Li, Yueyang Gou, Hongmei Chen, Shuyuan Yang, Yumei Wang, Stephen Mitchell, Alyssa Palmateer, Leonid S Brown, François St-Pierre, Mingshan Xue, John L Spudich

Duncan NRI Faculty and Staff Publications

Light-gated ion channels from protists (channelrhodopsins or ChRs) are optogenetic tools widely used for controlling neurons and cardiomyocytes. Multiplex optogenetic applications require spectrally separated molecules, which are difficult to engineer without disrupting channel function. Scanning numerous sequence databases, we identified three naturally blue-shifted ChRs from ancyromonads. They form a separate branch on the phylogenetic tree and contain residue motifs characteristic of anion ChRs (ACRs). However, only two conduct chloride, whereas the closely related Nutomonas longa homolog generates inward cation currents in mammalian cells under physiological conditions, significantly exceeding those by previously known tools with similar spectral maxima (peak absorption at …


1,2,4-Triazole-Based First-In-Class Non-Nucleoside Inhibitors Of The Bacterial Enzyme Mray, Tomayo Berida, Tzu-Yu Huang, Stefanie C Weck, Marcel Lutz, Samuel R Mckee, Nathalie Kagerah, Destinee L Manning, Mohamed E Jahan, Sushil Mishra, Jennifer Herrmann, Rolf Müller, Robert J Doerksen, Christina L Stallings, Christian Ducho, Sudeshna Roy Sep 2025

1,2,4-Triazole-Based First-In-Class Non-Nucleoside Inhibitors Of The Bacterial Enzyme Mray, Tomayo Berida, Tzu-Yu Huang, Stefanie C Weck, Marcel Lutz, Samuel R Mckee, Nathalie Kagerah, Destinee L Manning, Mohamed E Jahan, Sushil Mishra, Jennifer Herrmann, Rolf Müller, Robert J Doerksen, Christina L Stallings, Christian Ducho, Sudeshna Roy

2020-Current year OA Pubs

MraY is an essential bacterial enzyme for peptidoglycan synthesis in cell walls and serves as a promising but unrealized target for developing effective antibacterial drugs. Nature has provided a remarkable array of nucleoside inhibitors of MraY, and researchers have skillfully refined these structures to develop inhibitors that effectively mimic natural products. Yet, both natural products and their synthetic variants often face challenges regarding inadequate


Prenatal Metabolomics Analysis And Fetal Congenital Anomalies And Genetic Conditions: A Review Of Current Literature, Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B Van Den Veyver Sep 2025

Prenatal Metabolomics Analysis And Fetal Congenital Anomalies And Genetic Conditions: A Review Of Current Literature, Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B Van Den Veyver

Library Staff Publications

Fetal congenital anomalies and genetic disorders complicate 3%-5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management. The identification of new biomarkers holds promise for enhancing prenatal screening, diagnosis, and prognostic counseling in affected pregnancies. Recently, metabolomics has emerged as a potential adjunct in the interpretation of genetic variants identified through genome-wide sequencing for rare genetic conditions. To assess the potential of metabolomic profiling as a functional assay capable of providing deeper insights into the pathological processes and genetic findings associated with prenatal congenital anomalies, we …


Protocol For Non-Invasive Pulsed-Doppler Evaluation Of Blood Flow In The Mouse Ophthalmic Artery, Radwa Awad, Emil Martin, Anilkumar K Reddy, Iraida Sharina Sep 2025

Protocol For Non-Invasive Pulsed-Doppler Evaluation Of Blood Flow In The Mouse Ophthalmic Artery, Radwa Awad, Emil Martin, Anilkumar K Reddy, Iraida Sharina

Faculty, Staff and Student Publications

The number of reliable and non-invasive techniques to characterize ocular blood flow is limited. Here, we present a protocol for identifying a soft tissue window in the orbital aperture using pulsed-Doppler ultrasonography to offer real-time, non-invasive blood flow velocity monitoring in the mouse ophthalmic artery. We describe steps for preparing a mouse, positioning the ultrasound probe, and acquiring and recording signals. We then detail procedures for analyzing results using a workstation equipped with Doppler flow velocity software. For complete details on the use and execution of this protocol, please refer to Sharina et al.


Can Predictive And Functional Methods Locate The Dysplastic Hip Joint Center?, Michael Harris, Emma C. Behrman, Keith R. Lohse, Molly C. Shepherd, Bruce A. Macwilliams, Erin M. Mannen Sep 2025

Can Predictive And Functional Methods Locate The Dysplastic Hip Joint Center?, Michael Harris, Emma C. Behrman, Keith R. Lohse, Molly C. Shepherd, Bruce A. Macwilliams, Erin M. Mannen

2020-Current year OA Pubs

BACKGROUND: Properly characterizing biomechanics in populations with known hip deformities, such as developmental dysplasia of the hip (DDH), requires accurately identifying the hip joint center (HJC). Many studies have assessed the accuracy or repeatability of predictive and functional methods to locate the HJC in normally shaped hips, but not for hips with DDH.

RESEARCH QUESTION: For patients with DDH, which of three common functional and four common predictive HJC methods is most accurate compared to a magnetic-resonance-imaging-based anatomic method?

METHODS: HJC method accuracy was calculated as the resultant vector distance from the anatomic HJCs. Bias was calculated as distance errors …


Human Single-Neuron Activity Is Modulated By Intracranial Theta Burst Stimulation Of The Basolateral Amygdala, Justin M Campbell, Shuo Wang, Lawrence N Eisenman, James Swift, Tao Xie, Peter Brunner, Jon Timothy Willie, Et Al. Sep 2025

Human Single-Neuron Activity Is Modulated By Intracranial Theta Burst Stimulation Of The Basolateral Amygdala, Justin M Campbell, Shuo Wang, Lawrence N Eisenman, James Swift, Tao Xie, Peter Brunner, Jon Timothy Willie, Et Al.

2020-Current year OA Pubs

Direct electrical stimulation of the human brain has been used for numerous clinical and scientific applications. At present, however, little is known about how intracranial stimulation affects activity at the microscale. In this study, we recorded intracranial EEG data from a cohort of patients with medically refractory epilepsy as they completed a visual recognition memory task. During the memory task, brief trains of intracranial theta burst stimulation (TBS) were delivered to the basolateral amygdala (BLA). Using simultaneous microelectrode recordings, we isolated neurons in the hippocampus, amygdala, orbitofrontal cortex, and anterior cingulate cortex and tested whether stimulation enhanced or suppressed firing …


Mitochondrial Methylcytosines As Blood-Based Biomarkers For Alzheimer's Disease Dementia Prognosis, Jordi Gascón-Bayarri, Jose Luis Mosquera, Marta Blanch, Pau Martí, Beatriz Fontal, Carla Trapero, Nuria Rojo, Inma Rico, Jaume Campdelacreu, Cristopher Fowler, Simon M. Laws, Adrià Tort-Merino, Raquel Sanchez-Valle, Joan Bello, Juan Fortea, Alberto Lleó, Courosh Mehanian, Russell H. Swerdlow, Ramón Reñé-Ramírez, Marta Barrachina Sep 2025

Mitochondrial Methylcytosines As Blood-Based Biomarkers For Alzheimer's Disease Dementia Prognosis, Jordi Gascón-Bayarri, Jose Luis Mosquera, Marta Blanch, Pau Martí, Beatriz Fontal, Carla Trapero, Nuria Rojo, Inma Rico, Jaume Campdelacreu, Cristopher Fowler, Simon M. Laws, Adrià Tort-Merino, Raquel Sanchez-Valle, Joan Bello, Juan Fortea, Alberto Lleó, Courosh Mehanian, Russell H. Swerdlow, Ramón Reñé-Ramírez, Marta Barrachina

Research outputs 2022 to 2026

Alzheimer's Disease Dementia (ADD) prognosis is an unmet medical need. Mitochondrial dysfunction is an early AD etiopathogenic factor. The present study analyzed mitochondrial DNA (mtDNA) methylation patterns in blood samples from patients with mild cognitive impairment (MCI) who progressed to ADD (P), MCI remained stable (NP), and Cognitively Normal (CN) individuals. Differentially methylated sites were identified in the D-loop region in both CN vs. NP and NP vs. P comparisons, even before β-amyloid positivity. A Random Forest model was developed using mtDNA methylation data combined with cognitive and risk factor features. Model's performance was assessed by cross-validation and tested on …


Gait Analysis In Rett Syndrome: Integrating Linear And Nonlinear Techniques, Dacia Martinez Diaz, Brock Futrell, Bernhard Suter, Charles S Layne Sep 2025

Gait Analysis In Rett Syndrome: Integrating Linear And Nonlinear Techniques, Dacia Martinez Diaz, Brock Futrell, Bernhard Suter, Charles S Layne

Faculty, Staff and Students Publications

Rett syndrome is a rare neurodevelopmental disorder that significantly impairs bipedal postural control and walking ability. This study quantifies the gait characteristics of 22 females with Rett syndrome (divided into 3 age groups) and compares them with age-matched neurotypical females. Bilateral sagittal plane joint angles of the hip, knee, and ankle were analyzed. Measures included joint range of motion, stride time, peak angular velocity, angle-angle diagrams, phase portrait areas, and asymmetries. Results revealed reduced joint range of motion and angular velocity in individuals with Rett syndrome, as well as greater asymmetries in gait parameters reflecting disruptions in bilateral coordination. Phase …